HP_MULTICYSTIC_KIDNEY_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTICYSTIC_KIDNEY_DYSPLASIA TMEM107 LZTFL1 PEX6 GPC4 TFAP2A SIX1 HDAC8 BUB3 BUB1B BUB1 TMEM231 ARL3 PEX11B HNF1B BBS1 ARL6 PEX1 NPHP3 OFD1 HOXD13 LAMB3 BBS12 TCTN3 RSPO2 MCTP2 PEX26 MYH11 RPGRIP1 SH2B1 IFT27 MKS1 NPHP1 INPP5E TBX18 TCTN1 PEX3 RPGRIP1L B9D2 WDPCP B9D1 GREB1L ZEB2 PEX10 PEX12 CSPP1 FREM2 CHRM3 BBS5 BRD4 BBS7 WNT3 NXN TMEM67 NIPBL MBTPS2 IFT74 EYA1 FRAS1 ARL6IP6 CC2D2A TMEM216 GRIP1 ACTG2 PIGN BBS9 SALL1 HDAC4 PEX16 PAX2 PEX5 SDCCAG8 PORCN KAT6B CEP57 AMER1 FIBP SCAPER SMC3 PEX2 LHX1 CEP290 ROR2 DHCR7 GPC3 PEX13 SMC1A FLI1 LAMC2 CFAP418 SPOP TTC8 LMOD1 SIX5 PEX14 MKKS PIEZO2 B3GLCT TRIP13 LAMA3 PEX19 IFT172 TCTN2 CD96 BBS4 BBS2 TRIM32 BBIP1 SNRPB CEP19 TXNDC15 MYLK BBS10 RAD21 TMEM237 HP_RECURRENT_URINARY_TRACT_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_URINARY_TRACT_INFECTIONS SLC3A1 ATP7A GTF2I HOXA13 SATB1 SLC7A9 SLC35C1 GTF2IRD1 ARL3 KNSTRN BRCA2 CLIP2 THOC6 MYL9 FANCE ABHD11 PKD1 KANSL1 LAMB3 CLDN16 PKHD1 ELN TRAF3IP2 IL17RC FANCI EIF4H TXNRD2 KAT5 LAT2 HSPA9 STX1A MAN2B1 SLX4 SLC46A1 CREBBP FANCA FLVCR1 CHRNA3 SAMD9 FBLN5 WASF1 FOXC2 LMNB1 MLXIPL FANCL CHRM3 KCTD1 CFI BUD23 DNAJB11 WFS1 RFX5 BTK MAPK1 EFEMP2 METTL27 GANAB TBL2 CISD2 SHANK3 TNXB PEPD BNC2 PIK3CD RFWD3 CLDN19 RFXANK LIMK1 EP300 CIITA CLDN3 ERCC4 CR2 CLEC7A BAZ1B FARSB LRIG2 TRAIP XRCC2 FANCB POLR3A TP63 PKD2 BICC1 IL2RB NBN DZIP1L POLR3GL PNP MC2R ALMS1 ZNF699 STAR MNX1 ADNP GTF2IRD2 LAMC2 EN1 ALG9 SMARCA2 APRT EXT1 FANCF DYRK1A NCF1 GRHPR ATRX MRAP TRPS1 FANCC RFC2 AGXT FKBP6 IL17RA ISL1 MSN HPSE2 CLDN4 DNAJC30 BLM UBE2T VPS37D FANCG LAMA3 IL17F CRKL RAD51 BCR BRCA1 TMEM270 SLC5A2 BCL7B BRIP1 FANCD2 PRKCD NNT FANCM PALB2 RFXAP MAD2L2 RAD51C HP_NEUROGENIC_BLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUROGENIC_BLADDER GBE1 GJA1 WFS1 ATP13A2 ACER3 ERCC6 PEX3 CHRNA3 TBCD PPOX ATXN3 SNCA MTFMT FUZ TBCK FBXO7 ELOVL1 EPHB4 VPS11 COG5 MNX1 RASA1 VANGL1 PLP1 MAP3K7 TRAPPC12 FARS2 ERCC8 ARNT2 EN1 CLCN6 COG7 CISD2 HP_URINARY_URGENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URINARY_URGENCY FA2H MAPT MARS2 LRIG2 SNCA CACNA1G HPDL WASHC5 B4GALNT1 NR4A2 MED27 TRPV4 RTN2 KIF5A ALDH18A1 SPAST SNCAIP ATXN2 ABCD1 ATXN8OS UBAP1 ALMS1 FAR1 SACS KCNC3 ADH1C HSPD1 GLUD2 ATL1 TBP ATXN10 ZFYVE26 ATP13A2 SPG11 COQ2 LMNB1 CPT1C SPG7 NIPA1 GBA PINK1 REEP1 HP_HYPOPLASIA_OF_THE_UTERUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_UTERUS GNRH1 FIGLA DHH NR5A1 FOXL2 CHD7 LARS2 BMP15 STRA6 TACR3 HS6ST1 ERAL1 WNT4 KISS1 CYB5A HNF1B NDUFB11 GNRHR DUSP6 DCAF17 PROKR2 BMPR1B PROK2 SPRY4 MRPS22 IRF6 NIN FGF17 SOHLH1 HCCS CLPP NUP107 B3GLCT FGF8 CYP11B1 COX7B C14orf39 ESR1 KISS1R WDR11 FGFR1 ADH5 TAC3 CYP17A1 NSMF HP_ABNORMALITY_OF_THE_BLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_BLADDER WNT4 ATP7A HOXA13 COL1A1 GBE1 MKKS GTF2I HDAC8 PIGA WASHC5 RTN2 KIF5A MYCN TTR ATXN3 KANSL1 TAF13 WWOX HOGA1 SPOP LAMB3 ANKLE2 MBTPS2 GPR101 ITGA6 RERE FAR1 ERCC8 AVPR2 HLA-DQB1 SLC9A7 TNXB PHC1 HMBS CENPJ CISD2 AQP2 KAT5 METTL5 PYCR2 MYRF ATXN10 FRMPD4 SMAD3 ZFYVE26 TP63 GREB1L ZEB2 NEXMIF PSAP CHRNA3 PTCHD1 ALDH18A1 PIK3CA ARX AIP POLG2 EYA1 GBA FREM2 TBL2 MCPH1 SHANK3 SPG11 TRAPPC12 VCP ATL1 EP300 GIGYF2 PDGFRB KRAS DYSF PINK1 STRA6 NKX2-1 GABRA3 PDGFB DBH OTUD5 LRIG2 SCN9A TBP PIGN MKS1 BAP1 SNCA SYP STAT6 TRAPPC14 SALL4 GABRG2 DLG3 FMR1 AP5Z1 CACNA1H ALMS1 HNRNPU ADNP RARB DVL3 EHMT1 FARS2 CABP4 HSPD1 LAMC2 MPZ CHMP2B APRT EXT1 ITGB4 PAX2 COL18A1 MNX1 GLUD2 VANGL2 LMOD1 PDCD1 COL1A2 NCF1 ASXL1 VANGL1 COL3A1 HPSE2 SYNE1 DNAJC30 PPOX HNRNPK CHST14 DPH1 SALL1 ERLIN2 RRM2B PAX6 CAPN1 COL5A2 REEP2 COG5 EIF2AK2 FKBP14 NRIP1 SMARCA2 CHD7 UBE2A BCL7B DMD KIF14 MTMR14 ACTG2 WDR62 ARNT2 MYLK CLCN6 RNF168 ACSL4 ZNF711 RAD21 CNKSR2 RECQL4 ATXN1 CCNQ MYH11 SEC24C MID2 SIX1 GATA3 FANCI ACER3 COMT GBA2 ATRX JMJD1C SLC9A6 MYO1H MYL9 NAB2 POR RAB39B CDC45 FBXO7 ATXN8OS SDHAF1 CRH GDI1 ELN SACS CFAP43 RPS6KA3 NIPBL ALG13 EIF4H MECP2 NEFL BNC2 USP27X GJA1 WFS1 PBX1 KIF1A PLP1 JAG1 CDKN1C AFF4 BICC1 FUZ FBLN5 SETD2 TBCD BPTF BRD4 BUD23 ALS2 PLOD1 TGFB1 FGFR2 HIRA CEP63 CDK5RAP2 SPG7 DACT1 MED12 CLDN3 SMO CREBBP FGF10 TBX1 HNRNPA1 IQSEC2 GJC2 HPDL TIMM50 GALC MED27 KCNQ1 PRDM8 PRNP CCND1 PEX11B TBCK SLC25A13 NPHP3 HPRT1 UPF3B PIGO SDHB RASA1 PUF60 ZC4H2 USP9X VPS35 STK11 PIK3R5 JRK CLCN4 SIX5 ATP13A2 ARVCF PMP22 ISL1 SDHA UNC45A LRRK2 SPAST MYOCD CCL2 NCAPD3 COPB1 RREB1 VPS11 TMEM270 SLC20A2 NFIA HAAO TBXT KMT2C CHRNB2 SDHD EXT2 MAPT ZMIZ1 CHRNA4 CDH11 GTF2IRD1 TRPV4 DSTYK DKK1 KCNJ18 UBAP1 SIGMAR1 KCNT1 ZNF41 FOXF1 ADH1C KCNQ1OT1 HEXB ARSA AKT1 ZNF81 FITM2 EIF4G1 FLVCR1 AGTR2 RAC2 MARS2 APC2 LMNB1 FGFR3 KCNJ10 FTSJ1 PAK3 EFEMP2 METTL27 MYF6 SEMA3E CPT1C NOTCH3 AUH MAP3K7 REEP1 CDK6 SH3TC2 CHRNA2 CACNA1G MORC2 CEP152 NIPA1 SASS6 GABRB3 IGHMBP2 SLC12A3 CARMIL2 ASPM SLC2A1 KCNC3 PPP3CA EN1 DSE TRAF7 CACNA1S MMP1 KCND3 DNAJC13 FXN TRPS1 RFC2 AGXT UPB1 ATXN2 IGF2 IKZF1 HS6ST2 PIGQ PAH LAMA3 SUFU EPHB4 NOTCH2NLC SLC25A4 PRMT7 PSMD12 SQSTM1 SP110 DDX6 COG7 PLEC SLC44A1 HLA-DRB1 PANK2 FA2H ABCD1 STIL TYROBP CLCNKB ARHGEF6 HLA-B CLIP2 POLG SNCAIP BIN1 ABHD11 RETREG1 SH2B1 FANCF COPB2 SMARCB1 NSD1 DARS2 ROBO2 FAM20A MFSD2A CCBE1 NCAPG2 DDHD2 CEP135 HTRA1 LAT2 NBN HSPA9 STX1A SETX RPL11 KY PEX3 COQ2 SLC35A2 NF2 SMARCE1 COL5A1 MLXIPL CHRM3 DEPDC5 TSPAN7 STAT1 HNRNPA2B1 FOXP1 LIMK1 STUB1 TRRAP SOX17 BAZ1B C19orf12 SBF1 STEEP1 TERT FLNA B4GALNT1 POLR3A NR4A2 ERCC6 RYR1 KNL1 ALG9 DNM2 UFD1 TRIO EBF3 IL1RAPL1 SPART ELOVL1 STAMBP CYP7B1 SMC3 GALNT2 IFT57 LTBP4 RALGAPA1 HACE1 SMC1A GTF2IRD2 SLC5A2 GP1BB SLC1A4 DNMT1 TWNK FKBP6 CIT CHD4 CLDN4 COL7A1 VPS37D GRIP1 MTFMT GABRA1 HCFC1 FUS HP_BLADDER_DIVERTICULUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLADDER_DIVERTICULUM ATP7A BAZ1B LAT2 COL1A1 COL1A2 STX1A NCF1 GTF2I RFC2 TP63 FKBP6 GTF2IRD1 COL3A1 CLDN4 DNAJC30 VPS37D FBLN5 CLIP2 ELN MLXIPL ABHD11 COL5A1 SALL4 BUD23 COL5A2 FKBP14 TMEM270 SMARCA2 EFEMP2 METTL27 PLOD1 BCL7B LTBP4 TBL2 GTF2IRD2 LIMK1 CLDN3 EIF4H HP_URINARY_RETENTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URINARY_RETENTION ALDH18A1 GABRA3 CACNA1S ASXL1 ERCC6 HMBS LAMA3 NAB2 PRNP STAT6 KCNJ18 ABCD1 EXT1 LMNB1 LAMB3 RASA1 ALMS1 VANGL1 TGFB1 BNC2 ERCC8 ACTG2 LAMC2 SP110 APRT EXT2 SH3TC2 HP_NOCTURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NOCTURIA POLG2 RRM2B SLC12A3 DBH TWNK POLG SLC25A4 CLCNKB HP_URINARY_INCONTINENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URINARY_INCONTINENCE GBE1 PSAP CHRNA4 WASHC5 TRPV4 RTN2 TTR DKK1 SIGMAR1 KCNT1 FAR1 ZNF41 HEXB HLA-DQB1 AP5Z1 SLC9A7 HMBS ARSA AKT1 ZNF81 BAP1 FITM2 FRMPD4 ZFYVE26 ZEB2 NEXMIF FLVCR1 KIF5A AGTR2 PTCHD1 ALDH18A1 UBAP1 PIK3CA ARX ALS2 FTSJ1 PAK3 MYF6 SPG11 CPT1C VCP ATL1 NOTCH3 AUH PDGFRB CHRNA2 PDGFB SCN9A TBP CACNA1G MORC2 NIPA1 GABRB3 SYP IGHMBP2 GABRG2 DLG3 FMR1 CACNA1H SLC2A1 ALMS1 ADNP KCNC3 LRIG2 FARS2 CABP4 HSPD1 CHMP2B TRAF7 VANGL2 PDCD1 KCND3 VANGL1 HPSE2 SYNE1 HS6ST2 SUFU CAPN1 COG5 NOTCH2NLC EIF2AK2 DMD SLC12A3 ATP13A2 SQSTM1 MTMR14 ACSL4 ZNF711 SLC44A1 CNKSR2 HLA-DRB1 PANK2 FA2H ABCD1 MID2 TYROBP CLCNKB GBA2 ARHGEF6 SLC9A6 MYO1H BIN1 RAB39B RETREG1 SMARCB1 CRH GDI1 CFAP43 RPS6KA3 ALG13 DDHD2 HTRA1 MECP2 SACS NEFL BNC2 USP27X KY COQ2 NF2 TBCD SMARCE1 FUZ DEPDC5 TSPAN7 ATXN10 ATXN8OS SPG7 STUB1 MED12 SMO C19orf12 IQSEC2 SBF1 STEEP1 TERT TIMM50 GALC RYR1 PRDM8 DNM2 TRIO IL1RAPL1 PEX11B CYP7B1 GALNT2 IFT57 MNX1 UPF3B HACE1 ZC4H2 USP9X SLC1A4 DNMT1 GJC2 JRK CLCN4 SPAST CCL2 GABRA1 HCFC1 COPB1 SLC20A2 TBXT FUS CHRNB2 HP_MEGACYSTIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEGACYSTIS MYH11 NKX2-1 LMOD1 ACTG2 TP63 MYLK AQP2 AVPR2 MYL9 HP_ABNORMALITY_OF_MALE_INTERNAL_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_MALE_INTERNAL_GENITALIA NR5A1 DHH RAD51D GREM1 RNF43 TP53 PALB2 PRTN3 ADGRG2 HLA-DPA1 VHL HNF1B CHEK2 MAD1L1 CREBBP NAB2 AR STAT6 NBN BTK BARD1 SRCAP CCND1 SRY AAGAB AMH CDH1 PTEN APC BMPR1A PHF6 COL14A1 KLF6 RAD50 SOX9 PTPN22 RAD51 UNG DHX37 NKX3-2 HLA-DPB1 RAD51C BRCA1 ZFHX3 RNASEL EPHB2 CDKN2A HGD EP300 MDM2 MXI1 CFTR BRCA2 CTLA4 AMHR2 MRE11 PSMB8 BRIP1 CLDN2 HP_INGUINAL_HERNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INGUINAL_HERNIA ATP7A TENT5A RPL10 C1R COL1A1 GPC4 RTL1 GTF2I SATB2 DIS3L2 STRA6 LFNG SH3PXD2B FBN1 FBLN5 GTF2IRD1 RIPPLY2 KIF7 BMPER FOXE3 GLI3 ROR2 NPHP3 CLDN19 TBX3 TNRC6B H19 CHRNG ESS2 SERPINH1 FBXW11 SLC2A10 MBTPS2 SMAD4 COL1A2 GLRA1 RPS6KA3 SMCHD1 IDS POLR2A PPP2CA TGFB2 MESP2 TGFB3 NAA10 FGD1 GALNS ATP6V0A2 SMAD3 RPGRIP1L CHST3 GLB1 TBX1 CDKN1C WNT5A LDHD SIN3A APC2 ELN ADAMTSL2 GATA6 EZH2 ARX NXN EFEMP2 METTL27 TBL2 CBS AMHR2 ARID1B NOTCH1 ALDH18A1 DGCR8 HEY2 SLC26A2 PYCR1 CUL4B MYLK CWC27 TMEM70 FGFR1 FARSB CDC42 IRX5 TUBB DLL3 RNF13 GUSB NOTCH3 PLAG1 TMCO1 HSPG2 LOX PORCN SLC10A7 DVL1 WDR19 PLOD1 NDUFA8 AMH PIGS GPHN CTCF GPC3 ADNP PLD1 MED12 ARSB EHMT1 CTNND2 DSE TGDS GNE NCF1 CREBBP RFC2 MFAP5 COL3A1 DNAJC30 TTC37 B3GLCT TMEM67 PIGQ CHST14 DPH1 CRKL SETBP1 ELOVL4 AEBP1 YWHAE BCR ATP6V1A COL5A2 FKBP14 NOTCH2 NEU1 BCL7B OCRL SEMA5A TASP1 MED25 C1S DDX6 POGZ AR SEC24C IGF2 KDELR2 TGFBR2 SPECC1L GNPTAB FLNA B3GAT3 GDF1 COMT COL5A1 JMJD1C CLIP2 MYH11 ABHD11 GDF11 WDR35 SRCAP MYH3 SHOC2 DGCR2 NSD1 ADAMTS2 NIPBL EIF4H INPP5E MAN2B1 LAT2 HMGA2 STX1A SEC31A ATAD1 SHPK AP1S2 TOR1A PPP2R1A ACTA2 SETD2 HES7 MLXIPL TGFBR1 BUD23 DGCR6 CCDC22 UBA1 MAPK1 HIRA DLK1 PIEZO2 LIMK1 CLDN3 TRRAP PIGY PIK3R1 TMEM107 BAZ1B PTDSS1 CC2D2A ABCD4 SKIV2L SMAD2 ODC1 NAT8L SUZ12 NALCN CLCN4 TP63 PRKG1 PACS1 DVL3 UFD1 KDM3B MAF XRCC4 FIBP RIPK4 KDM5B AUTS2 MAT2A ZEB1 PUF60 LTBP4 FLI1 GTF2IRD2 GP1BB MEIS2 PAFAH1B1 OFD1 SKI ATP6V1E1 P3H1 MEG3 DYRK1A BRAT1 FKBP6 ARVCF PLOD2 ISL1 CLDN4 FLNB AGA IDUA VPS37D BRF1 COL2A1 PRDM5 PHGDH RREB1 MAPRE2 FZD2 WASHC5 TMEM270 EED NFIA KCNQ1OT1 FANCB RIC1 KMT2C HP_PROSTATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROSTATITIS HLA-DPA1 CTLA4 HGD BTK PRTN3 HLA-DPB1 PTPN22 HP_FUNCTIONAL_ABNORMALITY_OF_MALE_INTERNAL_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FUNCTIONAL_ABNORMALITY_OF_MALE_INTERNAL_GENITALIA GNRH1 CATSPER2 GATA4 ARMC2 GTF2I CFAP58 CFAP221 CFAP69 ODAD2 GTF2IRD1 ERCC8 EIF2S3 HS6ST1 XRCC2 DHH STK11 CFTR NR5A1 SPINK2 KISS1 DNAH9 HNF1B C14orf39 SOX3 STEAP3 DAZ2 PROKR2 DAZ3 SOHLH1 CATSPER1 DNAJB13 CTNS TEX14 SLX4 ERCC6 ZMYND15 FSHB POLA1 DAZ1 PRY2 CCNO STRC RSPH9 DRC1 AIP WDR11 CCDC40 MECP2 DNAJB11 DCAF17 WT1 KISS1R ODAD1 METTL27 GANAB SRY TBL2 VAMP7 DMRT3 RFWD3 BLM RSPH3 ERCC4 HSFY1 DNAH10 BCL10 SPEF2 PMFBP1 DNAH8 CHD7 FANCM CCDC39 ADGRG2 NANOS1 MEIOB MEN1 TACR3 KDM5D TSPY1 TAF4B CDH23 SEMA3A MC2R CFAP298 ALMS1 STAR DNAH11 DNAH17 USP9Y NR0B1 WWOX PROK2 DNAAF11 GAS8 RSPH4A NCF1 AR FGF17 MRAP FANCC RFC2 SUN5 RSPH1 AIRE ANK1 DNAJC30 UBE2T HSD3B2 RAD51 KLHL10 DZIP1 NME8 CFAP410 SYCP3 ANTXR1 BCL7B ANOS1 DNAH5 ODAD4 RPGR OCRL WFS1 NNT HYDIN ATM TTC29 POC1A CDY1 MAD2L2 BRCC3 BPY2 SPAG17 DNAH1 ANAPC1 DDX3Y DNAAF2 BRCA2 RPS4Y2 CLIP2 CFAP70 CNBP ERCC1 FANCE ABHD11 PKD1 DMPK MCM8 TEX15 MCIDAS VCY GBA GNRHR ELN SLC29A3 SOX9 ZFPM2 DNAAF4 FANCI LHCGR EIF4H TXNRD2 TTC12 SYCE1 SPRY4 HFE SYCP2 LAT2 DNAAF1 STX1A BMP2 CDY2A CFAP300 FANCA RBMY1A1 CCDC65 FOXJ1 FGF8 SPAG1 FANCL FGFR1 TDRD9 ZMYND10 BUD23 DNAI1 NEK10 CEP19 CISD2 SCP2 LIMK1 CLDN3 DNAL1 NSMF CLDN2 TEX11 GAS2L2 BAZ1B DNAI2 FANCB LHB PKD2 BICC1 DNAAF6 FGFR3 DNAH2 ODAD3 NR3C1 DNAAF3 KIT CFAP65 CATIP CCDC103 GTF2IRD2 ABCD1 DUSP6 ALG9 CFAP47 CYP17A1 FANCF M1AP HJV FKBP6 POR MAP3K1 DNAAF5 CLDN4 STK36 VPS37D DHX37 FANCG MLXIPL GBA2 OFD1 DAZ4 AURKC CFAP91 BRCA1 TMEM270 BRIP1 FANCD2 TAC3 LRRC56 PRY CEP112 PALB2 BRDT RAD51C HP_MALE_HYPOGONADISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALE_HYPOGONADISM GNRH1 CYP17A1 CHD7 FGF17 CTNS ERCC6 MEN1 AIRE ANAPC1 FSHB TACR3 ERCC8 POLA1 EIF2S3 AIP HS6ST1 FGF8 ERCC1 DHH KISS1R WDR11 MECP2 FGFR1 DMPK KISS1 CDH23 WFS1 ERCC4 GNRHR SOX3 CISD2 TAC3 SRY SOX9 NR5A1 ABCD1 NR0B1 DUSP6 NSMF PROKR2 PROK2 SPRY4 HP_AZOOSPERMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AZOOSPERMIA BRCC3 GNRH1 GATA4 BPY2 DDX3Y HS6ST1 BRCA2 RPS4Y2 XRCC2 STK11 FANCE CFTR USP9Y NR5A1 SPINK2 MCM8 KISS1 DNAH9 C14orf39 TEX15 VCY GBA GNRHR SLC29A3 STEAP3 ZFPM2 FANCI DAZ2 PROKR2 TXNRD2 SYCE1 SPRY4 HFE DAZ3 SOHLH1 TEX14 BMP2 SLX4 CDY2A DAZ1 FANCA ZMYND15 FSHB RBMY1A1 PRY2 CATSPER2 FGF8 KISS1R WDR11 FANCL FGFR1 TDRD9 WT1 CEP19 SRY VAMP7 SCP2 DMRT3 RFWD3 BLM NSMF ERCC4 HSFY1 CLDN2 TEX11 BCL10 CHD7 FANCM ADGRG2 FANCB NANOS1 AR MEIOB TACR3 KDM5D TSPY1 TAF4B FGFR3 NR0B1 SEMA3A SYCP3 SOX9 MC2R STAR KIT WWOX DUSP6 PROK2 FANCF M1AP HJV FGF17 MRAP FANCC MAP3K1 ANK1 UBE2T DHX37 FANCG STRC HSD3B2 DAZ4 CFAP47 RAD51 KLHL10 BRCA1 ANOS1 BRIP1 FANCD2 OCRL TAC3 NNT PRY PALB2 CDY1 MAD2L2 RAD51C HP_CRYPTORCHIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRYPTORCHIDISM ATR A2ML1 CCDC32 MKKS DUSP6 COLEC10 DIS3L2 HERC2 SEMA3A ERCC8 KMT2D BBS1 MAP2K2 GJB6 HNRNPK MAMLD1 RAB23 KANSL1 KISS1 NDP ANOS1 TCTN3 TNRC6B H19 ASH1L RERE WDFY3 MBTPS2 SMAD4 MRPS28 PAX7 KAT5 IER3IP1 FXR1 MYRF NAA10 DAG1 GATA5 ANKRD11 CBL SPEN PEX3 MAP2K1 ZEB2 FLNB GJB2 SIN3A PEX12 SOS2 EXT2 FGF8 NKX2-5 EZH2 NXN JAM3 KCNMA1 SOS1 ALDH18A1 DYNC2H1 ERCC4 CHST14 NR5A1 TMEM70 CCDC141 RAC3 GRIP1 PROKR2 HUWE1 PIGN FIG4 NRAS BBS9 CTBP1 NOTCH3 MKS1 USP7 PRKCZ ACTB TACR3 PLAG1 GLI3 OTUD6B DYNC2I2 NDN FAT4 CCDC174 SHH NALCN EMG1 PEX5 SCAPER STXBP1 HESX1 VAC14 ZNF699 STAR CEP290 LIG4 CTCF ROR2 ZSWIM6 MEG3 GPC3 PROK2 ATPAF2 PHIP CDT1 RARB LRIG2 MED12 ERCC2 MTOR FKRP LMOD1 PTCH1 NCF1 FGF17 MEGF8 MRAP CREBBP HYMAI B9D1 FDFT1 POLE ATRX SUFU LHX4 HPSE2 MYOD1 PIK3C2A PEX19 RRAS2 CLP1 SOX3 AEBP1 SNRPN COG5 DNAJC19 MTM1 SMARCA2 CD96 UBE2A FLNA BCL7B MYLK B4GAT1 JARID2 TBL1XR1 RECQL4 BICRA ARID2 ALKBH8 CYP11A1 SCYL2 COMT RAB3GAP2 PDE4D MAPRE2 ZMIZ1 DVL1 BRCA2 GDF1 CEP152 COG1 SRA1 POR MPLKIP KDM5C CDC45 PTCH2 WDR35 SRCAP ORC4 SRY GSC SHOC2 ELN ARID1B MAGEL2 TBCE SOX10 GLI1 EIF4H COL4A1 LMX1B SPRY4 RAB18 PACS1 HMGA2 OTX2 FLRT3 CITED2 PACS2 NONO B9D2 CRPPA SVBP AP1S2 RRAS CDH11 TMEM94 FUZ TANC2 FGFR1 MED27 GMPPB POLR1B AKR1C2 BRD4 TARS1 BUD23 HRAS VANGL1 HIRA SNORD116-1 AFF4 GLI2 DACT1 PPP1CB CLDN3 ATN1 TBX1 PTDSS1 ATP6V1A TMEM216 ACTG2 ODC1 FANCB AR LMBR1 HSPG2 LARGE1 TCF4 EHMT1 SDCCAG8 KAT6B CC2D2A SOX9 PWRN1 KDM5B AUTS2 FKTN DPYSL5 DISP1 FANCE PHF6 POMGNT1 SETD5 STAG1 CFAP418 MKRN3 DOCK3 PWAR1 ADAT3 CYP17A1 RAPSN GLE1 POLR1C PHGDH MAP3K1 SOX2 KLHL15 IGF2 VPS13B JAG1 RTL1 EIF5A BRCA1 TMEM270 RXYLT1 TRIM32 WT1 SATB1 AMHR2 CEP19 G6PC3 PDPN RAF1 GATA1 CHRM3 RAD51C SIM1 GATA4 RPL10 GPC4 STRA6 HIBCH RIT1 HS6ST1 POMT2 POLR3A RIPPLY2 PEX1 HYLS1 DYNC2LI1 SLC25A24 ESCO2 BBS12 CHRNG ESS2 PEX26 EIF2S3 NFIX KCNQ1OT1 RTTN FANCA NPHP1 KDM1A MESP2 ZIC2 SMC3 TCOF1 LSS FGD1 SLX4 ABL1 ATP6V0A2 NELFA IFT80 GPR161 MID1 BMP4 PRKAR1A FGFR3 WDR11 BBS5 RNF135 TRIP4 MBD5 B4GALT7 BBS7 FTO KISS1R EED RNF113A METTL27 MYF6 MAPK1 SIX3 VAMP7 CDC6 BLM MADD CKAP2L KIF7 PSMD12 MUSK LMNB2 PPP1R12A HS2ST1 PPP1R15B PHACTR1 TSPY1 ZBTB20 SEC23A PUS7 COLEC11 CYB5A SYNE1 PIGS ERCC3 PDE6D XPA SPECC1L DPAGT1 SUZ12 TFAP2A LUZP1 RLIM OCA2 ACTL6A RFC2 MAPK8IP3 WNT5A XPC ANK1 UBE2T B3GLCT GALT DDB2 IFT172 RAD51 FEZF1 FMR1 OGT ALG12 NOTCH2 ORC6 DDX6 PIGG ARID1A TMEM237 TMEM107 SLC18A3 SEMA3E KMT2E CLIP2 EVC EBP ABHD11 OPHN1 DOK7 MYH3 DGCR2 NSD1 LETM1 SMARCE1 BDNF DCC POLD1 NNT FANCI CCBE1 PAX6 NUP88 KDM6A COL3A1 ATP6V1E1 STX1A CCDC22 TRIP12 TPM2 WDPCP SAMD9 FANCD2 UQCC2 HES7 DNMT3A SMARCA4 FANCL LAS1L NKAP KAT6A ERCC6 SIX6 YY1 NDNF ATAD3A RIN2 ARX DNM2 UFD1 MED13 RNU4ATAC MRAS MAF RIPK4 LZTR1 POMT1 INSL3 SMC1A GTF2IRD2 GP1BB STAC3 SKI FGFR2 TTC8 DYRK1A CHD4 ANAPC1 VPS37D BRF1 MECP2 CDON TWIST1 RAB3GAP1 GPC6 WNT7A CUL4B GNRH1 ANKLE2 PEX6 GTF2I SLC35D1 HDAC8 BUB1B LFNG ARNT2 POU3F3 KRAS FBN1 ARL6 HOXD13 MMP23B DNAJC21 RSPO2 MCTP2 C2CD3 UBR7 ROBO1 SMCHD1 TCTN1 FZD2 SGPL1 PEX10 CDKN1C WDR37 FREM2 OCRL GRIA4 PLAGL1 ACTL6B TBL2 DMRT3 RFWD3 EP300 NEDD4L PYCR1 NKX2-6 CWC27 OTUD5 TUBB RYR1 STT3A SATB2 BPTF PEX16 PTPN23 SMS BRAF IGBP1 BBS4 AMH ADNP DVL3 FARS2 USP9Y RPGRIP1L POMGNT2 FGFRL1 WWOX CPLX1 TMEM67 IRF6 HPDL SMARCC2 DNAJC30 GMNN MYLPF SALL1 BCORL1 CDH2 KDM4B SLC26A2 CHD7 BBIP1 MCM5 GTF2H5 AGO2 PTPN11 MTMR14 TXNDC15 TASP1 EVC2 RAD21 SEC24C LZTFL1 POLR1D DHDDS JMJD1C ORC1 ERCC1 ERCC5 WASF1 UBR1 EFNB1 GRIA2 DLK1 ZFPM2 NIPBL ZBTB16 PBX1 NSUN2 DHCR7 SETD2 UBE4B PORCN STIL CDCA7 RBMY1A1 UBA1 CNOT3 CPE PIEZO2 TCF20 NSMF FGF10 ABCD4 KAT8 B3GALNT2 TSPYL1 PHF8 KCNQ1 TBX3 GTF2E2 TBCK CPLANE1 XRCC4 PEX2 NF1 SIAH1 CEP120 RBM10 GFM2 ALG8 ALX4 HSD17B3 MED13L FANCF TBC1D20 PEX14 ARVCF GJA5 NR0B1 TAF6 KIAA0753 ACTA2 RREB1 TRMT1 TRAPPC4 BBS2 CDK8 TAC3 FBXW11 SOX11 STS CILK1 NSD2 RORA MYT1L LONP1 DLX4 BRWD3 BCOR TMEM231 GTF2IRD1 INPPL1 NTNG1 IFT27 DAZ2 POMK DAZ3 DYNC2I1 DHODH FANCC SLC12A2 POLA1 ADARB1 CSPP1 RAC1 APC2 POLR3K DPF2 FLT4 XYLT2 WNT3 AXL DGCR8 IFT74 SMARCB1 CDC42 IRX5 XRCC2 DLL3 GRIA3 MYMK TOE1 NFIB MC2R TOGARAM1 SRD5A2 DSE TGDS TP63 HBA2 FAM149B1 STT3B HSD3B2 GK SMARCD1 GNRHR PRMT7 TINF2 PLVAP MAD2L2 PALS1 SOX4 SMOC1 PEX11B DDX3Y BIN1 IL17RD MYH11 RPGRIP1 KMT5B TBX22 THOC2 TXNRD2 LAT2 KCNAB2 MINPP1 DAZ1 PNPLA6 ASXL3 MASP1 DGCR6 CYP19A1 LIMK1 SLC19A2 FRAS1 TRRAP KDM6B BAZ1B CLCN4 SLC16A2 HNF1B OFD1 EBF3 KDM3B GATA6 CASZ1 PRDM16 NTNG2 HBA1 LHX1 PEX13 FLI1 VPS35L DKC1 FKBP6 AKR1C4 CLDN4 RASA2 NPAP1 HTT DHX37 FANCG MLXIPL FBLN1 DAZ4 TCTN2 BRIP1 MAP3K7 GABRD SNORD115-1 FANCM PALB2 BBS10 HP_TESTICULAR_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TESTICULAR_ATROPHY HFE DMPK POLG HPRT1 FGD1 BMP2 WFS1 AR ANOS1 FSHB NHP2 SMS TP53 TEX11 HP_AMBIGUOUS_GENITALIA_MALE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMBIGUOUS_GENITALIA_MALE CYP11A1 HSD3B2 SRD5A2 CYP17A1 SC5D CYB5A WT1 MKS1 TBX15 SRY DHCR24 TSPYL1 HP_HYDROCELE_TESTIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYDROCELE_TESTIS ZEB2 ATAD3A SLC25A10 PIK3CA VEGFC SETD2 PTEN APC2 PEX11B SOX18 FLT4 PIEZO1 GJC2 PIGN EDEM3 SETD1A EZH2 NSD1 ANGPT2 AKT1 MECOM EP300 MOGS CREBBP ADAMTS3 HP_ABNORMAL_TESTIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TESTIS_MORPHOLOGY ATR A2ML1 CCDC32 MKKS DUSP6 COLEC10 DIS3L2 PCARE HERC2 SEMA3A ERCC8 KMT2D BBS1 NR5A1 MAP2K2 GJB6 HNRNPK MAMLD1 RAB23 KANSL1 KISS1 NDP ANOS1 TCTN3 TNRC6B H19 ASH1L RERE OFD1 WDFY3 MBTPS2 SMAD4 MRPS28 PAX7 DHH ADAMTS3 KAT5 IER3IP1 FXR1 MYRF NAA10 DAG1 DHX37 GATA5 ANKRD11 FAS CBL SPEN PEX3 MAP2K1 AGA ZEB2 FLNB GJB2 SIN3A PEX12 SOS2 EXT2 FAM111A TSHB FGF8 NKX2-5 EZH2 NXN JAM3 KCNMA1 SOS1 ALDH18A1 KIAA1549 NHP2 IDH3A DYNC2H1 ERCC4 SAG CHST14 TMEM70 CCDC141 RAC3 AKT1 GRIP1 PROKR2 HUWE1 PIGN FIG4 NRAS BBS9 CTBP1 NOTCH3 MKS1 USP7 PRKCZ ACTB TACR3 PLAG1 GLI3 IMPG2 FANCM CHEK2 TOPORS OTUD6B DYNC2I2 PARN GUCA1B NDN FAT4 CCDC174 SHH NALCN EMG1 PEX5 POLG SCAPER DMPK STXBP1 HESX1 VAC14 ZNF699 IFT88 STAR CEP290 LIG4 CTCF ROR2 ZSWIM6 MEG3 GPC3 PROK2 ATPAF2 PHIP CDT1 RARB LRIG2 MED12 ERCC2 MTOR FKRP PQBP1 LMOD1 SOX9 PTCH1 ZDHHC9 NCF1 FGF17 MEGF8 MRAP CREBBP HYMAI B9D1 FDFT1 POLE SPATA7 ATRX CLIC2 SUFU LHX4 HPSE2 SLC25A10 MYOD1 CDKN1B PIK3C2A PEX19 RRAS2 ERAP1 CLP1 SOX3 AEBP1 FLT4 SNRPN COG5 DNAJC19 MTM1 MDM2 SETD1A SMARCA2 CD96 UBE2A NF1 FLNA BCL7B MYLK B4GAT1 ROM1 JARID2 TBL1XR1 RECQL4 BICRA ARID2 ALKBH8 CYP11A1 SCYL2 COMT RAB3GAP2 PDE4D IL23R ARL3 MAPRE2 ZMIZ1 DVL1 BRCA2 GDF1 CEP152 COG1 SRA1 POR MPLKIP KDM5C CDC45 PTCH2 WDR35 SRCAP ORC4 SRY GSC SHOC2 USH2A ELN ARID1B MAGEL2 TBCE PDE6G RSPO1 SOX10 GLI1 EIF4H COL4A1 LMX1B SPRY4 RAB18 PACS1 HPRT1 HMGA2 OTX2 FLRT3 TULP1 WFS1 CITED2 PACS2 NONO B9D2 CRPPA SVBP AP1S2 RRAS CDH11 TMEM94 FUZ TANC2 FGFR1 MED27 GMPPB CNGA1 POLR1B FSCN2 AKR1C2 BRD4 TARS1 BUD23 DHX38 HRAS GJC2 VANGL1 FBN1 SOHLH1 HIRA SNORD116-1 AFF4 GLI2 DACT1 PPP1CB CLDN3 ATN1 TEX11 PMM2 TBX1 PTDSS1 ATP6V1A TMEM216 ACTG2 ODC1 FANCB AR IL10 LMBR1 HSPG2 KIZ LARGE1 TAF4B RLBP1 TCF4 EHMT1 SDCCAG8 PEX11B KAT6B CDC73 CC2D2A PWRN1 KDM5B AUTS2 FKTN NANOS1 DPYSL5 DISP1 FANCE PHF6 POMGNT1 SETD5 STAG1 CFAP418 MKRN3 DOCK3 DCAF17 PWAR1 ADAT3 CYP17A1 RAPSN GLE1 SYCE1 POLR1C TUB PHGDH MAP3K1 SOX2 KLHL15 GBA2 IGF2 VPS13B JAG1 RTL1 RBP3 EIF5A EDEM3 BRCA1 TMEM270 RXYLT1 TRIM32 WT1 SATB1 AMHR2 CEP19 G6PC3 PDPN RAF1 GATA1 CHRM3 RAD51C SIM1 GATA4 RPL10 KEAP1 GPC4 STRA6 HIBCH RIT1 HS6ST1 UBAC2 POMT2 CA4 POLR3A ARL2BP RIPPLY2 VEGFC PEX1 HYLS1 DYNC2LI1 SLC25A24 ESCO2 BBS12 CHRNG SOX18 ESS2 PEX26 EIF2S3 NFIX CYP11B1 KCNQ1OT1 RTTN C4A FANCA NPHP1 KDM1A MESP2 EYS ZIC2 SMC3 TEX14 TCOF1 LSS FGD1 MECP2 SLX4 ABL1 ATP6V0A2 NELFA IFT80 FSHB GPR161 MID1 BMP4 PRKAR1A PRCD FGFR3 WDR11 BBS5 RNF135 TRIP4 MBD5 B4GALT7 BBS7 RPGR PIEZO1 FTO KISS1R EED RNF113A ARX METTL27 MYF6 MAPK1 SIX3 VAMP7 TLR4 CDC6 BLM MADD MAP3K7 CKAP2L KIF7 PSMD12 CUL4B GJB3 MUSK LMNB2 PPP1R12A HS2ST1 PPP1R15B SLC34A2 PHACTR1 TSPY1 ZBTB20 SEC23A PUS7 COLEC11 PTEN CYB5A SYNE1 PIGS ERCC3 PDE6D XPA SPECC1L DPAGT1 SUZ12 TFAP2A NR0B1 RP9 LUZP1 RLIM OCA2 ACTL6A RFC2 MAPK8IP3 WNT5A XPC ANK1 UBE2T B3GLCT GALT DDB2 IFT172 RAD51 FEZF1 FMR1 OGT ALG12 NOTCH2 ORC6 DDX6 PIGG PROP1 ARID1A TMEM237 TMEM107 ZPR1 SLC18A3 SEMA3E KMT2E HCCS CLIP2 EVC EBP ABHD11 LRAT OPHN1 DOK7 MYH3 DGCR2 NSD1 LETM1 SMARCE1 BDNF DCC POLD1 NNT LEP FANCI CCBE1 PAX6 NUP88 KDM6A COL3A1 CTDP1 GJA1 ATP6V1E1 STX1A CCDC22 BMP2 PRPF8 TRIP12 HGSNAT TPM2 WDPCP TP53 HLA-B SAMD9 IFT140 FANCD2 UQCC2 AHI1 HES7 DNMT3A SMARCA4 FANCL LAS1L NKAP KAT6A BEST1 ERCC6 SIX6 YY1 NDNF ATAD3A RIN2 IL12A DNM2 XRCC2 UFD1 MED13 SNRNP200 RNU4ATAC MRAS MAF NEK2 RIPK4 AHR LZTR1 DICER1 POMT1 WRAP53 ANGPT2 INSL3 SMC1A GTF2IRD2 GP1BB STAC3 RP1L1 SKI FGFR2 TTC8 DYRK1A CHD4 ANAPC1 VPS37D BRF1 CDON TWIST1 CFAP47 RAB3GAP1 GPC6 KDSR WNT7A GNRH1 ANKLE2 PROM1 PEX6 GTF2I SLC35D1 HDAC8 BUB1B LFNG ARNT2 POU3F3 KRAS LMNA ARL6 TERT HOXD13 MMP23B DNAJC21 C14orf39 RSPO2 CCR1 MCTP2 MEFV C2CD3 UBR7 ROBO1 SMCHD1 IDH3B HFE TCTN1 FZD2 EWSR1 SGPL1 PEX10 CDKN1C WDR37 FREM2 OCRL GRIA4 PLAGL1 ACTL6B TBL2 DMRT3 RFWD3 EP300 NEDD4L PYCR1 NKX2-6 RGR CWC27 PRPF31 OTUD5 CRX TUBB RYR1 STT3A SATB2 BPTF PRPH2 PEX16 PTPN23 SMS BRAF DKC1 IGBP1 BBS4 AMH ALMS1 ADNP STAT4 DVL3 FARS2 USP9Y RPGRIP1L POMGNT2 FGFRL1 LHCGR WWOX CPLX1 TMEM67 IRF6 REEP6 TINF2 FOXA2 HPDL CNGB1 SMARCC2 ARHGEF18 DNAJC30 IL1RAPL1 GMNN MYLPF GDF6 SEMA4A SALL1 BCORL1 CDH2 CDKN2A KDM4B KLHL10 SLC26A2 SYCP3 CHD7 BBIP1 MCM5 NSMF GTF2H5 AGO2 PTPN11 MTMR14 TXNDC15 TASP1 EVC2 RAD21 BRCC3 SLC39A4 SEC24C LZTFL1 POLR1D DHDDS JMJD1C GJB4 ORC1 ERCC1 ERCC5 WASF1 MCM8 UBR1 EFNB1 GRIA2 SLC29A3 DLK1 MECOM ZFPM2 NIPBL CUL7 ZBTB16 CRB1 MAK PBX1 NSUN2 PIK3CA DHCR7 SETD2 UBE4B TBCD PORCN STIL TDRD9 CDCA7 RBMY1A1 UBA1 CNOT3 KLHL7 CPE PIEZO2 TCF20 FGF10 ABCD4 KAT8 B3GALNT2 TSPYL1 LHB PHF8 KCNQ1 TBX3 RPE65 GTF2E2 TBCK CPLANE1 XRCC4 PEX2 SIAH1 POU1F1 CEP120 RBM10 GFM2 ALG8 KCNJ6 ALX4 PRPF6 STK11 HSD17B3 MED13L FANCF RDH12 PRPF4 TBC1D20 PEX14 ARVCF GJA5 CTC1 TAF6 KIAA0753 RP2 COX7B ACTA2 FAM161A RREB1 TRMT1 TRAPPC4 BBS2 CDK8 TAC3 FBXW11 RBMX SOX11 STS CILK1 NSD2 RORA MYT1L DMXL2 THOC2 LONP1 DLX4 BRWD3 BCOR TMEM231 GTF2IRD1 INPPL1 CFTR NTNG1 PDE6A KLRC4 TERC IFT27 LEPR DAZ2 POMK DAZ3 DYNC2I1 DHODH FANCC PRPF3 SLC12A2 NDUFB11 POLA1 CCDC28B ADARB1 CSPP1 RAC1 APC2 IMPDH1 POLR3K DPF2 XYLT2 WNT3 AXL NR2E3 DGCR8 PDE6B IFT74 RHO SMARCB1 CDC42 IRX5 DLL3 MEIOB ATM GRIA3 ZMYND15 MYMK TOE1 NFIB NOP10 MC2R GNAS TOGARAM1 IL12A-AS1 SRD5A2 DSE TGDS ZNF408 TP63 HBA2 RP1 FAM149B1 STT3B DMRT1 NPM1 CERKL HSD3B2 GK AGBL5 SMARCD1 GNRHR PRMT7 PLVAP SLC7A14 MAD2L2 PALS1 ABCA4 SOX4 SMOC1 WRN DDX3Y UPF3B BIN1 IL17RD TEX15 MYH11 RPGRIP1 KMT5B TBX22 TXNRD2 LAT2 KCNAB2 MINPP1 DAZ1 PNPLA6 ASXL3 NRL CBX2 MASP1 DGCR6 CYP19A1 CDHR1 ZNF513 LIMK1 SLC19A2 FRAS1 TRRAP KDM6B BAZ1B CLCN4 SLC16A2 HNF1B MERTK CLRN1 EBF3 KDM3B GATA6 RTEL1 CASZ1 PRDM16 NTNG2 HBA1 LHX1 PEX13 USB1 FLI1 MOGS VPS35L FKBP6 AKR1C4 CLDN4 RASA2 NPAP1 HTT FANCG MLXIPL FBLN1 DAZ4 TCTN2 BRIP1 GABRD SNORD115-1 PALB2 BBS10 TNFRSF1A HP_ABNORMAL_PENIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PENIS_MORPHOLOGY WNT4 ATR KIAA0586 PIGA DUSP6 COLEC10 DIS3L2 PCARE HERC2 SEMA3A EIF2S3 KMT2D BBS1 INPP5E MAMLD1 KISS1 ANOS1 RERE OFD1 OBSL1 SMAD4 GLI2 KAT5 MYRF GATA1 DAG1 DHX37 SPEN PEX3 MAP2K1 ZEB2 CHRNA3 SIN3A PEX12 IFIH1 SAMHD1 LMOD3 FGF8 EZH2 KCNA1 NXN RPS27 KIAA1549 IDH3A DYNC2H1 ERCC4 SAG NR5A1 TMEM70 CCDC141 SDHC AKT1 GRIP1 PROKR2 PIGN FIG4 BBS9 ZIC2 CTBP1 CDON USP7 PRKCZ ACTB CDKL5 TACR3 PLAG1 GLI3 IMPG2 TOPORS CEP41 PARN GUCA1B SUCLG1 NDN FAT4 SHH ARCN1 SCAPER NDUFA8 STXBP1 HESX1 VAC14 ZNF699 IFT88 CEP290 LIG4 MAP3K1 CTCF ROR2 GPC3 PROK2 ATPAF2 CDT1 MED12 PQBP1 SIK1 RPS29 RPS10 NCF1 FGF17 ERCC2 FDFT1 POLE INSR SPATA7 ATRX LHX4 SLC25A10 PEX19 SETBP1 SOX3 YWHAE SNRPN COG5 DNAJC19 PSENEN UBE2A FLNA PRRX1 BCL7B RPS24 B4GAT1 ROM1 KLHL41 DMXL2 BICRA ARID2 ALKBH8 CYP11A1 COMT RAB3GAP2 PDE4D ARL3 MAPRE2 DVL1 DCHS1 BRCA2 COG1 SRA1 POR FBXL4 CDC45 WDR35 SRCAP ORC4 KIAA1109 SRY USH2A ELN ARID1B TBCE PDE6G RSPO1 GLI1 EIF4H COL4A1 LMX1B SPRY4 RAB18 KIFBP MKKS HMGA2 OTX2 FLRT3 TULP1 CRPPA NEK1 CDH11 TMEM94 AFF4 FGFR1 GMPPB CNGA1 POLR1B FSCN2 BRD4 BUD23 DHX38 HOXA13 SDHD HIRA SNORD116-1 DACT1 CLDN3 TBX1 PTDSS1 SETD5 ATP6V1A PNPLA6 FANCB SYNGAP1 AR HSPG2 KIZ LARGE1 RLBP1 TCF4 EHMT1 SDCCAG8 KAT6B FERMT1 SOX9 ZMPSTE24 PWRN1 KDM5B NAA10 DPYSL5 DISP1 ERMARD PHF6 POMGNT1 CFAP418 MKRN3 DCAF17 PWAR1 ADAT3 CYP17A1 POLR1C TUB FGF10 ISL1 TOE1 SOX2 KLHL15 KLHL40 IGF2 POFUT1 RBP3 TWIST2 LMNA BRCA1 TMEM270 RXYLT1 TRIM32 GHR WT1 CEP19 PDPN RAD51C UBR1 NDUFS4 RPS28 SIM1 GATA4 RPL10 ZMIZ1 GPC4 HS6ST1 POMT2 CA4 POLR3A ARL2BP PTEN RIPPLY2 RPL18 PEX1 DYNC2LI1 PHF21A SLC25A24 ESCO2 SC5D BBS12 CHRNG PEX26 PIGQ CYP11B1 RTTN NPHP1 KDM1A MESP2 EYS TCOF1 LSS SLX4 ABL1 NELFA IFT80 GPR161 RAC1 MID1 BMP4 PRCD WDR11 BBS5 MBD5 BBS7 TGIF1 RPGR SMO ERCC8 KISS1R METTL27 SIX3 VAMP7 SOX10 CDC6 MADD PSMD12 CUL4B LMNB2 CYB5A PPP1R12A PEX5 EPG5 HSD3B2 NDUFB11 TFAP2A CDC42 TBX22 RP9 FGFR2 LUZP1 RPS26 FKRP RFC2 WNT5A ANK1 UBE2T B3GLCT IFT172 RAD51 FEZF1 OGT ALG12 NOTCH2 USF3 ORC6 DDX6 SLC25A22 PIGG ARID1A ZPR1 RNASEH2C SEMA3E HCCS CLIP2 EVC SCN2A FANCE ABHD11 LRAT SCUBE3 OPHN1 CLMP RNASEH2A MEGF8 NSD1 LETM1 NEUROD2 SMARCE1 BDNF DCC LEP FANCI PAX6 CENPT KDM6A STX1A PRPF8 HGSNAT CREBBP CCDC8 WDPCP SAMD9 IFT140 FANCD2 RPS19 AHI1 HES7 SMARCA4 FANCL ACTA1 RBBP8 BEST1 HYLS1 SIX6 RPL11 MTOR SDHB NDNF SUZ12 TP63 ARX UFD1 SNRNP200 RNU4ATAC NEK2 POGLUT1 RIPK4 AHR SMC3 WRAP53 PTCH1 CSPP1 TAPT1 SMC1A GTF2IRD2 GP1BB RP1L1 POMT1 TTC8 DYRK1A LZTFL1 CHD4 PIEZO2 VPS37D PRKDC MECP2 EED FAM111A RNF113A WNT7A GNRH1 EXT2 PROM1 PEX6 GTF2I HDAC8 BUB1B LFNG ARNT2 ADA2 HNF1B ARL6 RAB3GAP1 TERT HOXD13 GPR101 MMP23B RAF1 MCTP2 C2CD3 MED25 UBR7 ROBO1 SMCHD1 IDH3B SPTBN1 NHP2 FZD2 SGPL1 PEX10 CDKN1C KIAA0753 FREM2 EFNB1 AIP COX7B B9D2 PIGP TBL2 DMRT3 RFWD3 EP300 KRAS KLLN RGR NKX2-1 PRPF31 KATNIP OTUD5 CRX TUBB RYR1 STT3A SATB2 CARS1 PRPH2 PEX16 SMS CASK BRAF RPS20 SSR4 DKC1 FOXH1 ALMS1 DVL3 POMGNT2 FGFRL1 WWOX CPLX1 MED12L MNX1 REEP6 HUWE1 TINF2 RPL26 CNGB1 NODAL SMARCC2 PUF60 ARHGEF18 COL3A1 DNAJC30 GMNN SEMA4A MAB21L2 KIF7 SALL1 CDH2 CHD7 BBIP1 ADAR NSMF PTPN11 EVC2 RAD21 USP9X SEC24C SPECC1L NEB RPL27 POLR1D DHDDS TRIM8 INTU JMJD1C ORC1 SLC29A3 TREX1 KDM5C ZFPM2 NIPBL CUL7 ZBTB16 PNKP CRB1 MAK PBX1 NSUN2 FANCA HERC1 RPL15 DHCR7 SETD2 UBE4B MYH3 STIL CDCA7 CCDC22 UBA1 TBL1XR1 KANSL1 KLHL7 MAGEL2 CPE PRKAR1A ARL6IP6 B3GALNT2 TSPYL1 LHB MYMK KRT5 TBX3 RPE65 XRCC4 RPL31 PEX2 SIAH1 TONSL PRPF6 FANCF RDH12 PRPF4 TBC1D20 PEX14 ARVCF TDGF1 CTC1 NR0B1 RP2 DLL1 FAM161A RREB1 ERCC6 WASHC5 BBS4 BBS2 RPS17 TAC3 ALX4 SOX11 SUFU CILK1 NSD2 THOC2 PSPH RPS15A BCOR GTF2IRD1 PDE6A RSPO2 RPL35 TERC FOXF1 RPL35A IFT27 MKS1 POMK DYNC2I1 DHODH PRPF3 SCN1B ATAD3A CCDC28B TSR2 PITX2 APC2 IMPDH1 DYNC2I2 DPF2 GATAD2B AXL NR2E3 PDE6B IFT74 RHO PIK3CA DCX SMARCB1 KARS1 GNAO1 XRCC2 DLL3 TMEM63A GRIA3 RPL5 PCNT NOP10 RNASEH2B ECE1 TOGARAM1 SRD5A2 SMARCA2 CYP21A2 FANCC ZNF408 HBA2 RP1 STT3B NPM1 CERKL AGBL5 SMARCD1 GNRHR GAS1 SLC7A14 MAD2L2 ABCA4 SOX4 STAR PEX11B COLEC11 TTC37 FOXC1 MTM1 IL17RD KCNH1 LHCGR LAT2 KCNAB2 MINPP1 FKTN RLIM NRL MLXIPL RPS7 CDHR1 ZNF513 LIMK1 SKI FRAS1 TRRAP BAZ1B MERTK CLRN1 EBF3 SEC23B KDM3B RTEL1 CASZ1 PRDM16 HBA1 PEX13 USB1 FGFR3 PAFAH1B1 ATP6AP2 THOC6 FKBP6 CLDN4 NPAP1 FANCG CTU2 BRIP1 SMG8 GABRD SNORD115-1 FANCM PALB2 BBS10 HP_MALE_PSEUDOHERMAPHRODITISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALE_PSEUDOHERMAPHRODITISM TMEM107 TMEM216 CYP11A1 CYB5A WT1 TMEM231 HCCS NR5A1 MAP3K1 HHAT CYP17A1 CC2D2A TCTN3 HSD3B2 AMH RPGRIP1 RPGRIP1L DHH HSD17B3 SOX9 TMEM67 MNX1 DHX37 AR TCTN1 ATRX B9D1 B9D2 AKR1C4 NDUFB11 CBX2 CSPP1 DMRT1 NR0B1 AKR1C2 COX7B TCTN2 MKS1 AMHR2 TXNDC15 SRY TMEM237 CEP290 HP_EPISPADIAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISPADIAS PTDSS1 TP63 ISL1 ORC1 CDC6 NDUFB11 PIEZO2 DVL1 WNT5A GMNN HCCS EVC2 DVL3 SRY DYNC2LI1 EVC COX7B ORC4 FZD2 ORC6 C2CD3 CDT1 SMAD4 GLI1 KRAS CDC45 HP_LONG_PENIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_PENIS PTEN FGFR1 AKT1 GPR101 INSR POLR3A KCNH1 CYP11B1 ESCO2 LHCGR AIP HP_CHORDEE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHORDEE HOXA13 DYRK1A FGFR1 PPP1R12A NDUFB11 ZNF699 MAP3K1 HCCS CARS1 ZEB2 KDM1A PTDSS1 SRY POR COX7B HP_HYPOGONADOTROPIC_HYPOGONADISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOGONADOTROPIC_HYPOGONADISM GNRH1 RNU4ATAC SIM1 DMXL2 A2ML1 RAD51 GTF2I DUSP6 MT-TS1 RIT1 HS6ST1 HERC2 SEMA3A GTF2IRD1 MT-ND6 NR5A1 KRAS NTN1 RAF1 KISS1 SOX3 GPR101 ANOS1 PROKR2 DHH AKT1 HFE CBL BAP1 MT-TS2 LHX4 SNRPN FSHB SOS2 AIP PIK3CA WDR11 POLR3K TFR2 FGF8 POU1F1 RBM28 CHD7 NDN PLXND1 KISS1R METTL27 TBL2 AXL SOS1 SOX10 SEMA3E MT-TH BRAF RAB3GAP2 CCDC141 PDGFB TACR3 RNF216 MAGEL2 NRAS PROP1 MEN1 FGF17 MT-CO1 CDH23 LHX3 HESX1 POLR3A PROK2 TRAF7 SOX9 PTCH1 OCA2 NCF1 RFC2 TP63 FOXA2 SUFU ANK1 DNAJC30 DMRT1 RRAS2 MT-TW FEZF1 TYMP GNRHR BCL7B NSMF HDAC8 MT-ND4 RRM2B FGFR1 PTPN11 MT-TL1 DCC CLIP2 SRA1 ABHD11 PTCH2 SMARCB1 IL17RD ELN POLG EIF4H MT-CO2 SPRY4 LAT2 DNAL4 CTDP1 STX1A FLRT3 GJB2 BMP2 CTNNB1 PNPLA6 SMCHD1 RRAS CBX2 NF2 SMARCE1 MT-ND1 LAS1L BUD23 POLR3B MT-ND5 SNORD116-1 CPE SRY WT1 LIMK1 CLDN3 SMO SIX6 PMM2 BAZ1B TERT LHB NDNF MT-CO3 GLI2 MAP3K1 MRAS OTX2 NR0B1 PWRN1 LZTR1 GTF2IRD2 MKRN3 MT-TF DCAF17 PWAR1 HSD17B3 DHX37 HJV MT-TQ FKBP6 CLDN4 RASA2 NPAP1 SOX2 VPS37D MLXIPL PCSK1 RAB3GAP1 REV3L TMEM270 TAC3 SNORD115-1 HP_ABNORMALITY_OF_THE_SCROTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SCROTUM MYT1L SIM1 GATA4 KMT2E HOXA13 CCDC32 BUB1B COLEC10 HERC2 FLI1 SLC25A24 MAMLD1 NTNG1 HOXD13 TBX3 CHRNG WDFY3 NR5A1 ACTB SOX9 SPTBN1 IER3IP1 MYRF TCOF1 FGD1 RAB18 FZD2 SLC12A2 SNRPN ZEB2 CDKN1C BMP4 FREM2 EFNB1 GRIA4 WT1 ACTL6B SRY KCNMA1 VAMP7 SEMA3E DMRT3 IRF6 PSMD12 FARSB GRIP1 HUWE1 CYB5A MAGEL2 TUBB HS2ST1 RYR1 STT3A SALL1 BPTF PLAG1 PUS7 PTPN23 PTEN TMCO1 UBR7 NDN FAT4 TOE1 ARCN1 STXBP1 HSD3B2 SPECC1L KAT6B TWIST2 WWOX SRD5A2 RLIM MNX1 OCA2 AR ACTL6A ERCC2 MAPK8IP3 UPB1 HPDL MED12 PHF6 ATRX STT3B BCORL1 KDM4B SRCAP ALG12 PSENEN SMARCA2 CHD7 FGFR2 ORC6 AGO2 PALS1 JARID2 POLR1D MAPRE2 ZMIZ1 ORC1 POR WASF1 MTM1 KIAA1109 OPHN1 MEGF8 IGF2 ZFPM2 LMX1B KIFBP HMGA2 GLI3 MINPP1 TRIP12 SVBP CDH11 SAMD9 TANC2 DHCR7 MED27 MYH3 POLR1B NEXMIF CNOT3 SETBP1 SNORD116-1 DACT1 TCF20 FRAS1 TRRAP KAT8 PNPLA6 TSPYL1 DPYSL5 KRT5 TBX4 HNF1B DDX6 CREBBP MED13 POGLUT1 PWRN1 NTNG2 LHX1 PTRH2 RAB3GAP2 AKT1 MAB21L1 MKRN3 ALX4 DOCK3 PWAR1 CYP17A1 DYRK1A POLR1C TBC1D20 MAP3K1 NR0B1 NPAP1 HTT DHX37 POFUT1 TNRC6B NECTIN1 TRMT1 EP300 TRAPPC4 SATB1 FBXW11 SNORD115-1 CILK1 WNT7A MADD HP_SCROTAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCROTAL_HYPOPLASIA NR5A1 SIM1 GRIP1 PNPLA6 TSPYL1 MAGEL2 POLR1D TUBB RYR1 STT3A HERC2 MAPRE2 ATRX SLC25A24 POR NDN KAT6B STT3B ARCN1 PWRN1 STXBP1 KIAA1109 CHRNG OPHN1 SRY RAB3GAP2 MKRN3 ALX4 PWAR1 LMX1B SOX9 SRD5A2 IER3IP1 IRF6 POLR1C OCA2 GLI3 ERCC2 TBC1D20 TCOF1 RAB18 MED12 PHF6 SNRPN NPAP1 DHCR7 FREM2 MYH3 POLR1B NECTIN1 ALG12 SMARCA2 SETBP1 ORC6 SNORD116-1 SNORD115-1 CILK1 WNT7A FRAS1 TRRAP HP_BIFID_SCROTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIFID_SCROTUM SRD5A2 CYP17A1 NR5A1 FGFR2 KIFBP MNX1 IRF6 HOXA13 MYRF HMGA2 SPECC1L AR CYB5A BUB1B COLEC10 FZD2 UPB1 SALL1 ZEB2 CDH11 CDKN1C PLAG1 DHCR7 BMP4 SRY POR FAT4 MTM1 MAMLD1 HOXD13 HSD3B2 CHD7 SEMA3E IGF2 DACT1 SOX9 SPTBN1 HP_SHAWL_SCROTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHAWL_SCROTUM SPECC1L NEXMIF DYRK1A TBX3 FGD1 LHX1 EP300 EFNB1 PTRH2 ATRX MEGF8 TBX4 HNF1B SAMD9 TWIST2 CREBBP TMCO1 ORC1 PSMD12 HP_MACROORCHIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROORCHIDISM PTEN MECP2 AKT1 ZDHHC9 FMR1 CYP19A1 ARX CLIC2 MED12 GNAS NF1 AGA IL1RAPL1 RBMX UPF3B LHCGR TSHB HP_MICROPENIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROPENIS GNRH1 EXT2 SIM1 GATA4 THOC2 HOXA13 KIAA0586 PIGA DUSP6 CDH11 BUB1B COLEC10 HS6ST1 HERC2 SEMA3A EIF2S3 KIF7 KMT2D ARL6 PHF21A SLC25A24 INPP5E ROR2 MAMLD1 FANCB KISS1 TBX3 ANOS1 RSPO2 MCTP2 PIGQ NR5A1 C2CD3 UBR7 PROKR2 SPTBN1 DHODH GLI3 MYRF LSS RAB18 SCN1B SGPL1 ZEB2 ATAD3A CCDC28B SIN3A BMP4 KIAA0753 IFIH1 UBE2A GLI2 SAMHD1 COX7B WDR11 LMOD3 FGF8 B9D2 CHD7 DCAF17 WT1 SMO ERCC8 KISS1R KCNA1 SRY PIGP AXL VAMP7 SOX10 SEMA3E DMRT3 CDC6 MADD PSMD12 DCX CCDC141 KATNIP OTUD5 TACR3 LMNB2 GNAO1 CYB5A PPP1R12A FIG4 RYR1 STT3A SATB2 GRIA3 USP7 ACTB CDKL5 FGF17 CASK CEP41 NDN FAT4 BBS1 TOE1 DVL1 ARCN1 MAGEL2 STXBP1 HSD3B2 NDUFB11 RNASEH2B VAC14 ALMS1 LIG4 PROK2 ECE1 TOGARAM1 DVL3 WWOX SRD5A2 SIK1 INTU FANCL HDAC8 NEB FKRP AR HUWE1 ERCC2 WNT5A TP63 POLE ATRX HCCS STT3B CDH2 SETBP1 FEZF1 SNRPN HESX1 COG5 GNRHR ALG12 FGFR1 ADAR ORC6 NSMF PTPN11 ARX DDX6 SLC25A22 KLHL41 DMXL2 ZPR1 ALKBH8 POMT2 RNASEH2C DHDDS TRIM8 RAB3GAP2 SRA1 ORC1 POR SCN2A DYRK1A FZD2 CDC45 MTM1 B4GAT1 EHMT1 UBR1 KIAA1109 OPHN1 RNASEH2A IL17RD MEGF8 SLC29A3 TREX1 TBCE KDM5C NEUROD2 DCC ZFPM2 LEP LMX1B SPRY4 ZBTB16 PNKP CENPT KDM6A OTX2 FLRT3 PBX1 MINPP1 SMCHD1 NEK1 RLIM HERC1 FANCD2 DHCR7 GMPPB MLXIPL ACTA1 UBA1 TBL1XR1 SNORD116-1 CYP17A1 CPE PIEZO2 SIX6 FRAS1 ATP6V1A TCF4 PNPLA6 LHB NDNF LARGE1 ELN RNU4ATAC EBF3 KAT6B XRCC4 RIPK4 SOX9 PWRN1 DPYSL5 TAPT1 PHF6 MKRN3 OFD1 PWAR1 ADAT3 POMT1 THOC6 TBC1D20 LZTFL1 DYNC2H1 MAP3K1 CHD4 NR0B1 NPAP1 SOX2 KLHL15 DHX37 PRKDC KLHL40 CTU2 BBS5 ERCC6 FAM111A CDKN1C RNF113A TAC3 ALX4 SNORD115-1 CILK1 CUL4B HP_ABNORMALITY_OF_FEMALE_EXTERNAL_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FEMALE_EXTERNAL_GENITALIA ATR GAD1 SIM1 GATA4 PEX6 HDAC8 HERC2 CCNQ RAB3GAP1 PEX1 SLC25A24 ESCO2 DHH ROR2 FOS RAB3GAP2 MMP23B CHRNG PEX26 NR5A1 LIPE ACTB CYP11B1 TNXB DHCR24 INSR CAVIN1 CXCR4 AGPAT2 SPEN RAB18 PEX3 SNRPN NDUFB11 PEX10 ATIC WNT5A TBC1D20 PEX12 FREM2 PRKAR1A COX7B ZFPM2 PLAGL1 WT1 TP63 NXN SRY NIPBL VAMP7 SEMA3E DMRT3 ARID1B IRF6 CHD7 RAC3 GRIP1 CYP19A1 TRAIP PPP1R12A FIG4 MAGEL2 MKS1 TBX15 CDC6 RERE PRKCZ PEX16 LMNA UBE3B PEX5 NDN TOE1 DVL1 VAC14 SPECC1L MAP3K1 CTCF CDT1 DVL3 KAT6B WWOX LUZP1 SMARCA2 OCA2 HYMAI HCCS ORC1 GMNN B3GLCT PEX19 HSD3B2 POR CD96 FGFR2 ORC6 PPARG AR POC1A RAD21 TALDO1 CYP11A1 PEX11B CEP152 CDC45 ORC4 UBR1 RSPO1 KCNAB2 MINPP1 NSUN2 SMCHD1 UBE4B MYH3 PORCN ECEL1 BRD4 SETBP1 BSCL2 TWIST2 SNORD116-1 SKI PEX2 FRAS1 PMM2 FDXR HSPG2 LIG4 PDE4D CASZ1 RIPK4 SOX9 PRDM16 PWRN1 SMC3 NR3C1 DHCR7 PEX13 SMC1A CAV1 ESR2 MKRN3 PWAR1 PEX14 ISL1 NR0B1 NPAP1 DHX37 PCNT FZD2 GABRD PDPN SNORD115-1 HP_ABNORMALITY_OF_THE_CLITORIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CLITORIS CCNQ ATR GAD1 SIM1 GATA4 NR5A1 PEX6 UBE3B CYP11A1 FGFR2 HERC2 PEX11B DVL1 HCCS RAB3GAP1 CEP152 PEX1 ORC1 ESCO2 POR TALDO1 ROR2 CDC45 FOS RAB3GAP2 ORC4 UBR1 PEX26 MAGEL2 CYP11B1 RSPO1 ZFPM2 INSR CAVIN1 RAB18 AGPAT2 PEX3 MINPP1 SNRPN NDUFB11 PEX10 ATIC WNT5A TBC1D20 PEX12 COX7B PORCN WT1 SRY BSCL2 VAMP7 SNORD116-1 DMRT3 ARID1B PEX2 FRAS1 FDXR TRAIP PPP1R12A FIG4 AR TP63 CDC6 PEX16 PEX5 DVL3 NDN KAT6B TOE1 SOX9 PWRN1 VAC14 MAP3K1 DHCR7 CDT1 PEX13 CAV1 WWOX MKRN3 PWAR1 OCA2 CD96 PEX14 ISL1 NR0B1 NPAP1 GMNN B3GLCT DHX37 PEX19 HSD3B2 FZD2 ORC6 PPARG SNORD115-1 POC1A HP_ABNORMAL_LABIA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LABIA_MORPHOLOGY CCNQ GAD1 SIM1 GATA4 HDAC8 GMNN HERC2 SEMA3E DVL1 RAB3GAP1 ORC1 SLC25A24 ESCO2 POR ROR2 RAB3GAP2 ORC4 CHRNG MAGEL2 NR5A1 LIPE ACTB ZFPM2 NIPBL RAB18 SMCHD1 SNRPN INSR ATIC WNT5A TBC1D20 MYH3 PORCN ECEL1 BRD4 PLAGL1 WT1 TP63 SETBP1 SRY BSCL2 VAMP7 SNORD116-1 DMRT3 IRF6 CDC45 CHD7 PMM2 FIG4 AR CDC6 LMNA UBE3B DVL3 NDN KAT6B RIPK4 SOX9 PWRN1 SMC3 VAC14 CTCF CDT1 FGFR2 SMC1A ESR2 WWOX MKRN3 PWAR1 SMARCA2 OCA2 HYMAI AGPAT2 MAP3K1 NR0B1 NPAP1 B3GLCT DHX37 HSD3B2 FZD2 ORC6 SNORD115-1 RAD21 HP_HYPOPLASTIC_LABIA_MAJORA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_LABIA_MAJORA GAD1 IRF6 HDAC8 FIG4 WNT5A SMCHD1 GMNN ORC1 CDC6 DVL1 UBE3B B3GLCT DVL3 SLC25A24 ROR2 ECEL1 BRD4 RIPK4 ORC4 SMC3 FZD2 VAC14 TP63 ORC6 POR CTCF SETBP1 FGFR2 CDT1 NIPBL RAB3GAP2 SMC1A ESR2 RAD21 CDC45 HP_CLITORAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLITORAL_HYPOPLASIA SIM1 MAGEL2 CDC6 HERC2 DVL1 DVL3 RAB3GAP1 NDN ROR2 RAB3GAP2 ORC4 PWRN1 CDT1 MKRN3 PWAR1 RAB18 OCA2 WNT5A SNRPN ORC1 NPAP1 GMNN TBC1D20 B3GLCT PORCN FZD2 ORC6 SNORD116-1 SNORD115-1 POC1A CDC45 HP_AMBIGUOUS_GENITALIA_FEMALE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMBIGUOUS_GENITALIA_FEMALE HSD3B2 CYP11B1 CYP19A1 SRY TNXB DHCR24 WT1 MKS1 TBX15 HP_AMBIGUOUS_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMBIGUOUS_GENITALIA GATA4 TMEM107 CYP11A1 BUB3 BUB1B TWIST2 BUB1 WT1 TMEM231 HCCS POR WNT4 SIX3 WDR35 FGFR1 HOXD13 TCTN3 SRY SOX3 NR5A1 SOX9 CYP11B1 RPGRIP1 GLI2 BDNF RSPO1 ZFPM2 TNXB DHCR24 PAX6 DYNC2I1 MYRF DHX37 GLI3 TCTN1 PBX1 FZD2 MINPP1 B9D2 NEK1 IFT80 B9D1 NDUFB11 FUZ DHCR7 CSPP1 FREM2 COX7B AKR1C2 SC5D DYNC2I2 PSAT1 TGIF1 CYP19A1 RIPK4 VANGL1 MKS1 VAMP7 DMRT3 CYP17A1 DYNC2H1 FGF8 CKAP2L ATP6V1B2 IRF6 FRAS1 TBC1D24 TMEM216 GRIP1 FDXR TRAIP CYB5A TSPYL1 ZIC2 AR TBX15 CDON PHGDH CEP41 CEP57 TOE1 ARX CC2D2A HSD3B2 FOXH1 NR3C1 ZNF699 PTCH1 CEP120 RPGRIP1L NR0B1 WWOX SRD5A2 HSD17B3 SHH TMEM67 ATRX AKR1C4 NODAL MAP3K1 TDGF1 CHD4 TRIP13 IGF2 CTU2 DLL1 TCTN2 DISP1 TXNDC15 IFT81 GAS1 SUFU CILK1 NR2F2 TMEM237 CEP290 HP_HYPOPLASTIC_LABIA_MINORA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_LABIA_MINORA GAD1 SIM1 MAGEL2 OCA2 RAB18 SNRPN ORC1 CDC6 HERC2 NPAP1 DVL1 WNT5A GMNN TBC1D20 DVL3 RAB3GAP1 NDN RAB3GAP2 ORC4 PWRN1 FZD2 ORC6 SETBP1 CDT1 SNORD116-1 ACTB SNORD115-1 MKRN3 PWAR1 CDC45 HP_LABIAL_HYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LABIAL_HYPERTROPHY INSR BSCL2 LMNA PLAGL1 HYMAI ESCO2 AGPAT2 KAT6B HP_URETHRAL_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETHRAL_ATRESIA TMEM107 TMEM67 TMEM216 CC2D2A GRIP1 TCTN2 TCTN1 TCTN3 B9D1 B9D2 MKS1 TMEM231 TP63 WNT3 TXNDC15 RPGRIP1 ZIC3 RPGRIP1L CSPP1 FANCB FREM2 FRAS1 TMEM237 CEP290 HP_ABNORMALITY_OF_THE_URETER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_URETER HOXA13 MKKS GTF2I HDAC8 PIGA LFNG HLA-DPA1 KMT2D MYCN RAB23 KANSL1 TAF13 SPOP LAMB3 ANKLE2 MBTPS2 ITGA6 DDB1 RERE ERCC8 AVPR2 TNXB PHC1 CENPJ AQP2 KAT5 METTL5 PYCR2 FAM20C TCTN1 TP63 GREB1L ZEB2 CHRNA3 EYA1 KCNA1 PIGP TBL2 MCPH1 SHANK3 RFWD3 EP300 ERCC4 KRAS STRA6 NKX2-1 OTUD5 LRIG2 PIGN MKS1 CDKL5 CASK HSPG2 TRAPPC14 SALL4 HNRNPU RARB PLD1 DVL3 EHMT1 RPGRIP1L LAMC2 SIK1 EXT1 ITGB4 PAX2 COL18A1 TMEM67 SPINT2 MNX1 LMOD1 NCF1 ATP7A B9D1 SLC26A1 HPSE2 DNAJC30 HNRNPK SALL1 CEP55 RIPK4 SETBP1 PAX6 NRIP1 CHD7 UBE2A BCL7B KIF14 TXNDC15 ACTG2 WDR62 ARNT2 MYLK RAD21 RECQL4 CCNQ SEC24C SIX1 DMXL2 GATA3 SPECC1L FANCI COMT TRIM8 ATRX JMJD1C BRCA2 CDC45 SDHAF1 ELN NADSYN1 NIPBL GLI1 EIF4H PNKP SOS1 BNC2 WFS1 PBX1 B9D2 JAG1 CDKN1C FANCA STK11 AFF4 BICC1 FUZ DHCR7 FBLN5 SETD2 BPTF PORCN KCTD1 BRD4 BUD23 EDNRA VANGL1 FGFR2 HIRA CEP63 CDK5RAP2 DACT1 CLDN3 CREBBP FLNA MYOD1 FGF10 TBX1 NPHP3 TMEM216 FANCB SOS2 KCNQ1 EVC2 CC2D2A ZMPSTE24 NAA10 PIGO SDHB PUF60 FANCF CPT2 KDM6A SIX5 ARVCF ISL1 SDHA UNC45A B3GLCT NCAPD3 NECTIN1 RREB1 LMNA BRCA1 TMEM270 NFIA CTLA4 HAAO STXBP1 HS2ST1 KMT2C CHRM3 SDHD CEP290 RAD51C FIBP ZMIZ1 GPC4 CDH11 BCOR TMEM231 GTF2IRD1 RIPPLY2 RAI1 DEAF1 DSTYK DYNC2LI1 SLC6A17 FLII HNF1B TCTN3 FOXF1 PIGQ KCNQ1OT1 LONP1 MESP2 GLI3 SMC3 ACTB SLX4 SCN1B CSPP1 ACTG1 APC2 FGFR3 GATA6 EFEMP2 METTL27 SEMA3E ARID1B MAP3K7 PSMD12 CDK6 GNAO1 XRCC2 DLL3 CEP152 SASS6 UMPS ASPM GPC3 PPP3CA YY1 TRPS1 HLA-DPB1 FANCC RFC2 IGF2 UBE2T PIGL LAMA3 RAD51 PRMT7 DDX6 SLC25A22 TMEM237 MAD2L2 PLEC STIL TMEM107 PRTN3 NODAL CLIP2 EVC SCN2A FANCE ABHD11 SH2B1 COPB2 PIGT NSD1 ROBO2 MYH11 MFSD2A NEUROD2 RPGRIP1 CCBE1 NCAPG2 TBX18 CEP135 LAT2 HSPA9 STX1A RPL11 SLC35A2 HES7 MLXIPL FANCL ASXL1 LIMK1 IQSEC2 TRRAP SOX17 BAZ1B POLR3A ERCC6 PEX6 KNL1 ALG9 UFD1 ARX EBF3 STAMBP LHX1 RALGAPA1 SMC1A GTF2IRD2 RNU4ATAC GP1BB PTPN22 GRHPR FKBP6 POR CIT CHD4 AXIN1 CLDN4 PIEZO2 VPS37D BRF1 FANCG TCTN2 NDUFAF3 BRIP1 FANCD2 FANCM PALB2 EPG5 HP_URETEROCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETEROCELE PNKP ITGB4 DMXL2 GNAO1 TP63 SCN1B TRIM8 PEX6 CDKL5 HNF1B CASK LAMA3 ARX SCN2A LAMB3 ITGA6 LHX1 KCNA1 PIGQ PIGP NEUROD2 LAMC2 STXBP1 SLC25A22 SIK1 PLEC HP_URETERAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETERAL_STENOSIS TBX18 YY1 KDM6A HOXA13 SIX5 SIX1 PRTN3 CDH11 HLA-DPB1 SLC26A1 NODAL HLA-DPA1 KMT2D PIGT DSTYK DHCR7 BRF1 SLC35A2 SETD2 PIGL APC2 HNF1B NSD1 SETBP1 CTLA4 EYA1 FLNA MYOD1 PTPN22 HP_HYDROURETER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYDROURETER SOX17 LMOD1 GPC4 MKKS ACTG2 XRCC2 FANCB BCOR SOS2 ERCC6 EVC2 BRCA2 DYNC2LI1 EVC FLNA FANCE RAB23 LAMB3 DDB1 PIGN NAA10 PIGT GPC3 MBTPS2 FOXF1 PLD1 MYH11 RNU4ATAC ERCC8 LAMC2 AVPR2 GLI1 LONP1 FANCI AQP2 TBX18 FANCF GLI3 FAM20C SMC3 ACTB FANCC WFS1 SLX4 TP63 FANCA MYLK PIEZO2 UBE2T ACTG1 FANCG LAMA3 FANCL CHRM3 RIPK4 RAD51 HPSE2 NDUFAF3 EDNRA BRCA1 SETBP1 BRIP1 FANCD2 RFWD3 ARID1B FANCM ERCC4 PALB2 HS2ST1 MAD2L2 RAD51C HP_URETERAL_DUPLICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETERAL_DUPLICATION FIBP TMEM107 COL18A1 CPT2 TMEM67 SPINT2 TMEM216 GPC4 TCTN1 SOS1 PBX1 B9D1 B9D2 NODAL TMEM231 AXIN1 LMNA GATA6 FUZ B3GLCT CSPP1 SETD2 APC2 PORCN SLC6A17 KCTD1 CC2D2A ZMPSTE24 TCTN2 TCTN3 VANGL1 NSD1 GPC3 MKS1 TXNDC15 RPGRIP1 RPGRIP1L PIGN TMEM237 PSMD12 CEP290 HP_URETEROPELVIC_JUNCTION_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETEROPELVIC_JUNCTION_OBSTRUCTION TBX18 YY1 KDM6A HOXA13 SIX5 SIX1 HNF1B SLC26A1 NSD1 DHCR7 KMT2D DSTYK BRF1 SLC35A2 SETD2 PIGL EYA1 APC2 MYOD1 HP_RENAL_DUPLICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_DUPLICATION ITGB4 BAZ1B LAT2 STX1A NCF1 GTF2I GP1BB RFC2 WNT5A FKBP6 KANSL1 ZEB2 GTF2IRD1 CLDN4 DNAJC30 FANCD2 B3GLCT VPS37D CLIP2 MLXIPL ABHD11 FOXC2 SLC6A17 ROR2 KCTD1 DVL1 BUD23 GP1BA ITGA6 TMEM270 ELN GPC3 METTL27 BCL7B TBL2 GPC4 GTF2IRD2 GP9 LIMK1 CLDN3 EIF4H PLEC HP_ABNORMALITY_OF_THE_KIDNEY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_KIDNEY SDHD NF1 NRAS PIGA LEMD3 COLEC10 BUB1B CEP290 SLC7A9 NUP107 SEMA3A KMT2D PTPN22 FANCB CLCN5 AGXT KANSL1 LAMB3 DCDC2 MT-TK CYP11B2 TCTN3 H19 NTRK1 FH MBTPS2 ERCC8 PHC1 CENPJ AQP2 KAT5 METTL5 PIK3CA PYCR2 SPEN MT-TS2 PUS3 B9D1 ZEB2 NEXMIF LMAN1 CHRNA3 MT-ND1 PC PEX12 EMP2 FGF8 TREX1 SLITRK6 MT-ND4 EYA1 BCOR KCNA1 NXN BCS1L ACVRL1 MAP2K2 CHST14 MT-ND2 LRIG2 PIGN FIG4 APRT KCNJ2 DIS3L2 CDON PRKCZ CHEK2 CEP41 DYNC2I2 SUCLG1 PDX1 TRAPPC14 PEX5 SALL4 VAC14 HNRNPU RFWD3 PLD1 MME EHMT1 CFAP418 PQBP1 GLIS3 DYNC2I1 TRPC6 RPS29 PAX2 RPS10 LMOD1 HNF1B NCF1 KIF14 ATP7A CRB2 INSR ATRX MT-TE PPOX HNRNPK DPH1 ITGA8 ERAP1 PROK2 ANLN SETBP1 INF2 OGG1 CLCNKA MDM2 PKD2 RPS24 CHN1 HNF4A DMXL2 BICRA ARID2 RERE SNAP29 PREPL FLT1 DCHS1 COG1 NPHS1 FAT4 POR TP53 FBXL4 PLG FAH WDR35 LDHA PGAP2 CDKN1B SRCAP GP1BA MAX SHOC2 ELN ARID1B IL17RC GLI1 EIF4H NUP133 CEL HPRT1 PCK1 WFS1 B9D2 TOR1A SLC34A3 LDLRAP1 FOXE1 CA2 MEFV BRD4 APOE FN1 RAI1 MKS1 CISD2 DHX16 HIRA AFF4 DLK1 CDK5RAP2 DACT1 CLDN3 ATN1 TBX1 NPHP3 NUP205 TMEM216 IL10 HSPG2 TBC1D8B SLC30A9 DZIP1L SDCCAG8 GCM2 KAT6B CDC73 REST CC2D2A SOX9 FKTN NAA10 GP1BB HNF1A PLCE1 STAG1 MET PDSS2 PRKAR1A RPL26 ADAT3 XYLT1 ACE CCND2 FGF10 MAP3K1 ATP1A1 CDKN1A FGF13 CFI ABCC8 CAV1 ADCY10 SOX10 PDE6D G6PC1 CDH23 FAS TMEM270 IL6 NFIA SLC5A2 WT1 NPHP1 RAD51C UBR1 CFHR1 RPS28 ITGA2B C3 BUB3 MYD88 HS6ST1 MEOX1 PTEN RPL18 DSTYK BAP1 STX3 IGF2 COA8 RAB3GAP2 RYR1 IFT80 BBS12 VHL APOL1 PRKCSH KCNQ1OT1 C4A FANCA STAT4 NDUFS1 GLA GLI3 SLX4 TBCK TMEM127 MCFD2 BMP4 RARA BBS5 NUP85 MASP1 TMEM67 METTL27 TNXB VAMP7 PIGL CLDN19 WDR73 KYNU PPP1R15B MAP3K7 CWC27 ACTG2 SASS6 MT-CO1 NADK2 ABCC6 SPECC1L SLC37A4 PPP3CA TFAP2A EN1 MVK MMP1 FLNB ZNF592 PYGL RFC2 TRIM37 PIGW MAGI2 LAGE3 AIRE DNASE1 UBE2T TTC37 B3GLCT USP8 SLC3A1 ITGB4 IL17F FOXP1 DICER1 IFT172 FBN1 NEU1 CPLANE1 SCARB2 SNRPB NUMA1 RBM8A MYO5B FGA IFT140 CACNA1D DDX6 PIGG COG7 FGFR1 CFHR2 ENPP1 MYO1E PRTN3 CLCNKB NODAL SI HLA-B SCNN1A RASGRP1 CLIP2 EVC HOGA1 CSPP1 COQ2 KCNE5 PKD1 BSND PIGT CASP10 CAD MFSD2A FLCN SMARCE1 KRT17 TBX18 MAPKBP1 RRM2B TTC21B HMGA2 WDPCP MOCS2 DLL4 RPS19 SCO2 SLC34A1 BUB1 SMARCA4 FANCL STAT3 KAT6A RBBP8 OFD1 ERCC6 SPP1 BRAF COQ6 MGME1 PIGY RPL11 FXYD2 NDNF HLA-DRB1 BICC1 PEX7 ARX MT-ND3 PLAGL1 WIPF1 KNL1 DYNC2H1 ALG9 NDUFS6 RNU4ATAC DDX59 COL4A1 GDF3 SMC3 SHH INSL3 AP2S1 TAPT1 SMC1A MT-ND6 ESCO2 PEX19 SMAD4 B2M TTC8 GRHPR POU3F4 LZTFL1 CIT COL7A1 BLM PCK2 NDUFB8 SERPINA1 ALG8 PPP2R3C RMRP KCNJ10 SLC25A20 FANCD2 LARGE1 TCTN2 LMNB1 RTL1 GTF2I CFH KRAS HLA-DPA1 ATP7B LMNA PEX1 INTS1 FOXI1 ARL6 MYCN AMMECR1 CD151 COL4A3 DDB1 RAF1 CCR1 MCTP2 NR5A1 CLPB MED25 SPTBN1 DCLRE1C TXNL4A P4HA2 SGPL1 DMP1 GDF6 TSC2 FREM2 TMEM237 MSH6 ITGB3 COL4A4 GPC4 CPT1A FREM1 COPA RNF139 PLCD1 AXIN2 ZNF423 LRP4 STRA6 BBS10 OTUD5 IL7R TACR3 CCDC141 MIA3 AIP PEX16 PRCC SMS MT-TL1 RPS20 TSC1 TMEM231 MAFB SAA1 WDR4 BBS4 FOXF1 PAX6 CEP83 RET RPGRIP1L FOXRED1 FCGR2A KIAA0586 SLC26A1 SMARCC2 COL4A5 COL3A1 DNAJC30 PROKR2 SALL1 CDKN2A CEP55 NARS2 TP53RK CHD7 ANTXR1 ITGA2 MCM5 PTPN11 NEK8 TXNDC15 MRPL3 ARHGDIA TYR AVPR2 RECQL4 USP9X SEC24C GATA3 RPL27 DHDDS EIF2AK3 ARL3 INTU LMNB2 MYL9 ACTN4 DYRK1A PRPS1 IQCB1 SLC4A1 SCNN1B AKT3 SEC61A1 ZFPM2 INPP5E PNKP DAAM2 SOS1 FOXP3 BRCA2 NPHS2 CDKN1C SHPK SLC22A12 STK11 ZAP70 DHCR7 UBE4B APOA1 CEP63 PIEZO2 CREBBP COQ7 MYOD1 CD2AP ETFDH MTRR ARL6IP6 NDUFS2 MSH2 GCDH LRP2 HSD11B2 INVS SCNN1G APC EHHADH GPKOW PEX2 CEP120 WNT3 WDR19 NFS1 EPAS1 FANCF MEG3 SIX5 PIK3R2 TBC1D24 ARVCF PKHD1 SARS2 KNSTRN FEZF1 KIAA0753 NCAPD3 LIG4 ANKFY1 PRDX1 DLL1 SDHAF2 BBS2 CTLA4 SPRY4 STXBP1 HMOX1 FIBP CTH RORA CFHR3 MT-TS1 CCNQ GTF2IRD1 NUP37 SPINK5 SLC6A17 SIX3 NDUFS7 FLII C1QBP LRP5 RPL35 APOB SNAI2 RPL35A NUP160 LAMB2 LYZ LMX1B PCSK9 PGM3 HELLPAR CCDC28B ACTG1 CD109 TPRKB ETFA ACSL4 SRY MT-TH POU6F2 AGT KARS1 DUSP6 XRCC2 TCF4 FGF17 TMCO1 CTNNB1 AMER1 TBL1XR1 DLST ADAMTS3 IL12A-AS1 TTR CLDN10 DSE YY1 RAD54B HLA-DPB1 FANCC TP63 IL17RA NDUFA6 SEMA4D NDUFB10 BBIP1 GATM PAH LAMA3 SLC2A2 GDF2 EDNRB SMARCD1 GANAB HPSE2 CHUK MKKS IFT43 POGZ PLVAP MAD2L2 FCGR2B SOX4 HBB UMPS SMOC1 FGFR2 COLEC11 SEMA3E WRN GBA PIK3CD COPB2 CLDN16 TRIM32 AAGAB NIPAL4 GNB1 DYNC2LI1 KCNH1 TBX22 SDHB TLR2 LAT2 PHYH HSPA9 NEUROD1 JAK1 STS FGFR3 STOX1 MCC CHRM3 RPS7 MSH3 POMT2 NPM1 BSCL2 IL2RG LIMK1 FRAS1 CEP164 CCBE1 DGKE PUF60 TMEM126B ADAMTS13 PNPLA2 CDK4 IFT27 SNRPN INS MST1 FAM20A LHX1 CCND1 BBS9 ACP5 LTBP4 MLH3 FLI1 SURF1 PRKCD FLNA MYH9 AGPAT2 MEN1 FANCG MT-TV MT-CYB CTU2 CFB MMUT ITPR3 DISP1 GPC3 NDUFB3 BRIP1 PEX6 DNAJB11 GABRD FANCM PALB2 CD46 WNT4 ENG PRODH BBS1 TRIP11 BMPER MUC1 PEX13 CDKN2B RAB23 TAF13 KCNJ11 ITGA6 ANOS1 PBRM1 PAX7 GLI2 STRADA SERPINF2 HPS1 GATA1 GALNT3 CENPF PEX3 SEC63 TGM1 EXT2 HGD SC5D SLC2A9 KANK2 JAM3 RPS27 ERCC4 CRTAP LIPT2 PTPRO SDHC AKT1 GRIP1 PHKG2 ZIC2 CTBP1 CDKL5 NDUFAF3 ATP6V0A4 SCAPER CPOX ZNF699 ROR2 RARB WAS FKRP LAMC2 PHEX SIK1 DCC SLC7A7 OSGEP CYB561 THBD PDGFRB PIK3C2A TFE3 MT-TW CD96 NDUFS8 BCL7B ZFP57 GREB1L PML MYLK SLC5A1 MDH2 MLH1 COMT SOCS1 MT-ND5 CPT2 IL23R OCRL PTCH1 NSD1 NADSYN1 GCK IARS1 ALDH18A1 RAB18 LPIN1 HRAS FLRT3 TRIP13 NEK1 JAG1 CASR FUZ PPP2R1A KIF1B BUD23 NLRP3 VANGL1 OSTM1 LPIN2 RPS26 PMM2 SIX1 MITF XYLT2 NUP93 DHCR24 CCN2 MAP2K1 FAN1 HYMAI NDUFS4 UMOD VDR ETFB SLC4A4 FANCE MT-TF EXTL3 NDUFS3 CDKN2C PHGDH PEX10 BRCA1 CEP19 G6PC3 PDPN KMT2C GATA4 ZMIZ1 KEAP1 UBAC2 KCNJ1 STAT2 DEAF1 PHF21A KMT2A ALOXE3 SBDS PEX26 SERPINH1 OPLAH OCLN GLIS2 PIGQ RTTN ADA2 NOTCH2 YAP1 PGK1 ZIC3 ACTB TELO2 MT-TT NELFA CFHR5 FOXC2 BBS7 TGIF1 SMO EFEMP2 MAPK1 TLR4 MAGED2 DNASE1L3 PAX1 ADGRG2 RAG1 SLC34A2 CEP152 SON AHI1 NOTCH3 GSN ASPM IFNG RAG2 CDC42 LUZP1 SPRY2 C1QB WNT5A NOD2 ELP1 KCNJ5 IKZF1 ZNF687 EBP NDUFV1 RAD51 GBE1 USF3 NDUFAF1 SLC6A20 SLC25A22 ALDOB ARID1A PLEC SRC TMEM107 AURKA ZPR1 VPS33B TCN2 ITGA3 SMARCAL1 THOC6 SCN2A ABHD11 MMACHC KLLN KDM6A NEUROD2 WAC ALOX12B COL14A1 FANCI MT-CO2 CAMKMT MT-TN CEP135 F8 STX1A CORIN BTNL2 PAFAH1B1 F2 UQCC2 TMEM260 CCR6 RIPK4 ANKRD17 FGF23 IQSEC2 HYLS1 GNA11 SOX17 SKIV2L KLF11 NDUFAF8 MT-CO3 CTNS ALMS1 APPL1 IL12A PACS1 VPS33A UFD1 WDR11 LDLR XPNPEP3 PTPN12 POMT1 PTH1R GTF2IRD2 ALDOA SDHA ARMC5 ADA CHD4 VPS37D BRF1 FASLG ARHGAP24 TMEM138 PLA2G2A HABP2 KCTD1 RMND1 ABCA12 GLMN SF3B4 ALPL HOXA13 HDAC8 B3GALT6 SLC12A1 PDHA1 RAB3GAP1 NDUFAF6 HOXD13 KIRREL1 ANKLE2 MMP23B RSPO2 GEMIN4 NPHP4 SH2B1 FIP1L1 HMBS FAM20C TCTN1 PTPRJ ALG1 TRIM28 ABCG5 DLC1 POLE SOX18 CFTR PIGP TBL2 MCPH1 SHANK3 DMRT3 EP300 CLEC7A ERBB3 TBX15 SLC26A4 SLC35A2 CASK MOCOS PORCN DVL1 FOXH1 TRAF3IP1 CACNA1S WWOX YY1AP1 IFIH1 AGTR1 ASXL1 DNMT3A SLC36A2 NDUFB9 LCAT SLC9A3R1 HESX1 REN NRIP1 HIC1 TASP1 WDR62 ARNT2 RAD21 TMEM70 TRIM8 F5 SREBF1 NDUFAF4 JMJD1C PHKA2 B4GAT1 CPLX1 NDUFAF2 NDUFV2 SLC29A3 TRAF3IP2 WBP11 DNA2 NIPBL NSDHL IRF5 PRF1 MYH11 PBX1 ZBTB16 NSUN2 COQ8B RPL15 FBLN5 IRAK1 SETD2 SULT2B1 PYGM NDUFAF5 CCDC22 MINPP1 BNC2 PDGFRL DNAJC21 CLDN2 ADAMTSL1 KIF7 MYMK KCNQ1 TBX3 EVC2 NBN XRCC4 SLC6A19 RPL31 NDUFA1 LIPN STAT5B RBM10 GP9 NUBPL PEX14 MT-TQ LETM1 CAPN15 CYP4F22 TDGF1 NR0B1 SLC25A11 MYOCD RREB1 WASHC5 RPS17 HAAO ALX4 F10 SOX11 SUFU CILK1 HS2ST1 NSD2 TENT5A AVIL RPS15A NOS1AP VIPAS39 ATP6V1B1 SDR9C7 COX14 MARS1 KLRC4 FBXW11 PIGV DHODH STXBP2 SCN1B NABP1 TRNT1 TBC1D20 GPR35 TSR2 UBE2A APC2 C1QC DPF2 RASA1 IFT74 PGAM2 ATP6V1B2 SSR4 CDK6 SMARCB1 ZNF148 GNAO1 HDAC4 GRIA3 CYBC1 BLK STX11 C1QA FGF20 GAPVD1 RPL5 MRPS22 PKDCC SLC12A3 PAX4 YWHAE GNAS TOGARAM1 COL4A6 ALDH4A1 ANKS6 SPOP LMBRD1 TKT IFT122 AFF3 COG6 LONP1 FAM149B1 MOCS1 PRMT7 IRF2BP2 GAS1 PGAP3 STIL KDELR2 SRP54 PEX11B TALDO1 UNC13D SLC17A5 MT-ATP6 IL17RD ROBO2 RPGRIP1 CYP24A1 FUT8 NCAPG2 NDUFB11 KCNAB2 NDUFA11 AGGF1 MLXIPL KITLG CD81 SLC1A1 STAT1 SKI TRRAP MTX2 BAZ1B HSD17B4 POLR3A PIGO BAX PPM1B SEC23B XDH CEP57 SPART CASZ1 PRDM16 MNX1 TIMMDC1 DKC1 FKBP6 CLDN4 DHX37 PNPLA6 ABCG8 EPG5 HP_ABNORMALITY_OF_REPRODUCTIVE_SYSTEM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_REPRODUCTIVE_SYSTEM_PHYSIOLOGY ERCC2 PPARG RNU4ATAC ERCC3 A2ML1 DUSP6 DNAH1 PCARE F7 HERC2 FLI1 SEMA3A FMR1 ERCC8 EIF2S3 BBS1 MT-ND6 NR5A1 DNAAF1 TRMT10A CDKN2B KISS1 FOS GNAS NDP PLCZ1 TP53 ANOS1 OFD1 OBSL1 SMAD4 LIPE STEAP3 DHH F11 IER3IP1 CCNO DHX37 AGPAT2 CBL MSTO1 SPEN MT-TS2 MAP2K1 LMAN1 PPP2R3C PRY2 STRC SOS2 AIP PIK3CA NIN FGF8 POU1F1 RBM28 DNAJB11 PLXND1 BCOR LMNA PSMC3IP SOS1 KIAA1549 POLR3B IDH3A ERCC4 SAG DNAH10 CCDC141 DBH PHKG2 CCDC39 TP63 NRAS BBS9 USP7 PRKCZ TACR3 PLAG1 IMPG2 ZP2 FANCM TOPORS GUCA1B NDN POLG CDH23 CFAP43 SCAPER DMPK GHR HESX1 IFT88 STAR CEP290 LIG4 TWNK PROK2 DNAH17 CFAP300 DNAAF11 SOX9 PTCH1 GAS8 NCF1 FGF17 MRAP FOXL2 SPATA7 TGFB1 SUFU LHX4 CLPP AKT2 FSIP2 ITGA8 RRAS2 MT-TW CDC14A SNRPN CFAP410 BCL7B DNAH5 PML PIGA ATM LMNB1 TTC29 ROM1 RRM2B SNAP29 BMP15 CYP11A1 SPAG17 NR3C1 RAB3GAP2 RSPH4A ARL3 POLG2 SPEF2 ATRX DCC BRCA2 SRA1 RECQL4 USP9Y PTCH2 HSD17B4 DNAH9 CDKN1B SIL1 GP1BA SRY USH2A GBA ELN MAGEL2 VWF PDE6G IL17RC SOX10 EIF4H TTC12 SPRY4 SEPTIN12 SACS HMGA2 FLRT3 TULP1 ITGB3 RRAS DNAJB13 CCDC65 DNAAF6 DNM1L CNGA1 BPTF FSCN2 MCM9 FGFR1 BRD4 BUD23 DHX38 PDE8B OPA1 CISD2 SOHLH1 SNORD116-1 PSMB8 B4GALNT1 CLDN3 LRRK2 TEX11 UCHL1 GDF9 PMM2 PTDSS1 IQCB1 FANCB C11orf80 AR HSPG2 PHGDH KIZ CFTR TAF4B FGFR3 CCN2 KLHL10 RLBP1 SDCCAG8 HBB ODAD3 PDE4D SYCP3 PWRN1 WT1 NANOS1 DNAAF3 FANCE F10 SPIDR CFAP418 MKRN3 MT-TF DCAF17 PWAR1 PRKAR1A CYP17A1 SYCE1 PNPLA6 TUB CDKN2C MAP3K1 CDKN1A STK36 SOX2 GBA2 RBP3 CAV1 DDX3Y DNAI1 FAS BRCA1 TMEM270 TRIM32 AMHR2 CEP19 PDPN SYNJ1 RAD51C SIM1 GATA4 ITGA2B CFAP58 GP1BB RIT1 HS6ST1 CA4 ODAD2 ARL2BP RTN2 BTG4 RAF1 RSPH1 BBS12 CHRNG CYP11B1 HEXB FANCA NPHP1 PROKR2 AKT1 EYS TEX14 BAP1 SLX4 FSHB GPR161 TLE6 DRC1 MCFD2 BMP4 BLOC1S3 POF1B PRCD WDR11 RARA HSD17B3 BBS5 BBS7 H6PD RPGR KISS1R METTL27 VAMP7 BLM COQ2 BRAF BCL10 CUL4B ADGRG2 CACNA1G SLC34A2 VPS4A TSPY1 ZBTB20 MT-CO1 CYB5A ERCC6 XPA PRLR SLC37A4 NR0B1 POLR3A RP9 LUZP1 TRAF7 ATP7B OCA2 DIAPH2 RFC2 FGG ALG1 XPC AIRE ANK1 IKZF1 UBE2T USP8 IL17F GALT DDB2 IFT172 RAD51 FEZF1 DZIP1 NME8 GTF2H5 PSMD12 NUMA1 ODAD4 PROP1 CDY1 AARS2 PAPSS2 STUB1 PLIN1 MEN1 MEI1 MT-TL1 SEMA3E HLA-B RASGRP1 CLIP2 CFAP70 THOC6 WAS ERAL1 ABHD11 PKD1 ABCD1 LRAT MRPS7 ARSL VCY NSD1 CASP10 IGF2 POLD1 DNAI2 LEP FANCI MT-CO2 CAMKMT GCM2 DNAL4 CTDP1 F8 STX1A BMP2 CDY2A PRPF8 EIF2B1 HGSNAT CCDC8 WDPCP F2 PRKN AMACR SAMD9 IFT140 FANCD2 AHI1 SPAG1 ESR1 FANCL LAS1L CCR6 TRIP13 ZMYND10 AK7 SNCA ATXN8OS SETD2 BEST1 DNAL1 SIX6 MGME1 GAS2L2 NOBOX NDNF MT-CO3 HLA-DRB1 RIN2 ALMS1 PKD2 FGA BICC1 GLI2 WIPF1 XRCC2 SNRNP200 MRAS DNAJC6 NEK2 AHR PATL2 SERPINE1 SMC3 LZTR1 HPS5 IGF1 FGB CATIP CCDC40 SMC1A GTF2IRD2 ESR2 RP1L1 F5 TTC8 HJV LZTFL1 ARMC5 POR ANAPC1 VPS37D FASLG ZP3 PCSK1 F13B CDON CFAP47 PRKACA RAB3GAP1 TAC3 EIF2B3 STAT3 TBL1X GP9 BRDT GNRH1 ARMC2 PROM1 MRE11 GTF2I HDAC8 GALK1 CFAP221 ITGB6 WRN ARL6 TTR SPINK2 SOX3 GPR101 MMP23B C14orf39 F13A1 ROBO1 SMCHD1 FIP1L1 IDH3B PRKACG CAVIN1 MRPS22 HFE CATSPER1 CTNS SGPL1 ZMYND15 CDKN1C DAZ1 MSH5 TSGA10 MECP2 POLE ERCC1 ODAD1 TBL2 BCS1L DMRT3 RFWD3 RSPH3 SLFN14 NPHP4 RGR CLEC7A FIGLA BBS10 GUCY1A1 PDGFB PRPF31 DNAH8 PADI6 TUBB8 RNF216 CRX BNC1 RERE PRPH2 WEE2 WNT4 LHX3 BBS4 DMXL2 ZP1 VPS13C TRAF3IP1 DNAH11 AHSG FCGR2A HFM1 WWOX GATA3 REEP6 FOXA2 SUN5 PHF6 FSHR CNGB1 ARHGEF18 DAZ3 DNAJC30 POLR1C SEMA4A TYMP CHD7 BBIP1 ANTXR1 NSMF OCRL PTPN11 WFS1 QRICH2 POC1A RAD21 BRCC3 SLC39A4 CFAP44 HLA-DQB1 DNAAF2 SLC26A8 ERCC5 MCM8 PHKA2 SLC29A3 TRAF3IP2 ZFPM2 DNAAF4 IRF5 SYCP2 CRB1 MAK ZBTB16 CTNNB1 PINK1 RBMY1A1 CATSPER2 UBE4B MYH3 BBS2 TDRD9 NEK10 KLHL7 CPE CLDN2 BSCL2 SMO LHB INVS GALC TBX3 NBN MNS1 RPE65 NBEAL2 SLC25A13 CFAP251 STAT5B KIT SLC2A3 HSF2BP ALX4 ALG9 PRPF6 BMPR1B LSS WDR19 FANCF M1AP RDH12 PRPF4 MT-TQ ACTL9 SLC40A1 RP2 CUL7 NECTIN1 FAM161A PANX1 INPP5K REV3L BLOC1S5 POMGNT1 REC114 LRRC56 LEPR MYH9 MT-TS1 CFAP69 GTF2IRD1 KRAS NTN1 STK11 NUP107 HNF1B PDE6A SLC3A1 IFT27 DAZ2 MKS1 FANCC PRPF3 DHDDS NABP1 POLA1 CCDC28B RSPH9 UBAP1 APC2 PODXL IMPDH1 POLR3K TFR2 PSAT1 HPS4 PLAU EIF2B5 MCM3AP GANAB NIPBL AXL NR2E3 MDM2 MT-TH PDE6B IFT74 HSFY1 RHO PMFBP1 CYP19A1 LARS2 MEIOB TTI2 KDM5D MC2R TBL1XR1 CFAP298 ZMPSTE24 HTRA2 SRD5A2 TKT EIF2B2 PEX6 ZNF408 RCBTB1 IL17RA RP1 DMRT1 CERKL HSD3B2 AGBL5 PARK7 HARS2 GNRHR MKKS IRF2BP2 NPHP3 NNT STAG3 MT-ND4 HYDIN SLC7A14 MAD2L2 ABCA4 BPY2 RPS4Y2 CNBP SMARCB1 POLR3H IL17RD TEX15 MCIDAS WNT7A LHCGR TXNRD2 LAT2 KCNAB2 GJB2 STS PREPL NRL CBX2 SPATA16 FOXJ1 NF2 SMARCE1 MT-ND1 AGGF1 CHRM3 MT-ND5 CDHR1 NPM1 ZNF513 SCP2 LIMK1 SKI PEX1 MPLKIP BAZ1B CEP164 TERT PDE11A MERTK PPM1B HAMP CLRN1 DNAH2 OTX2 CASZ1 PGR GP6 PRDM16 AMH CFAP65 CCDC103 YARS1 EIF2B4 PRKCD HLA-DQA1 FKBP6 DNAAF5 CLDN4 RASA2 NPAP1 HTT FANCG MLXIPL DAZ4 AURKC CFAP91 CIDEC BRIP1 GABRD SNORD115-1 PRY CEP112 PALB2 HP_DUPLICATED_COLLECTING_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUPLICATED_COLLECTING_SYSTEM IARS1 OTUD5 KDM6A LAMB3 PIGA FANCC TELO2 TP63 SHOC2 JAG1 FANCE MAPK1 TNXB FANCD2 LAMC2 POGZ KMT2D PIGL FANCA LAMA3 HP_RENAL_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_INSUFFICIENCY DYNC2LI1 HOXA13 CEP290 GTF2I HDAC8 LEMD3 CFH MYO1E SLC7A9 NUP107 HLA-DPA1 HNF1B CLCN5 PTPN22 MYCN NDUFAF6 MUC1 AGXT WDR19 CD151 DCDC2 COL4A3 MT-TK NTRK1 PKHD1 CCR1 MEFV CLPB CRB2 NPHP4 ERCC8 AVPR2 FAS HMBS AQP2 HPS1 CTNS ALG1 P4HA2 RPGRIP1L PUS3 SGPL1 MMUT CHRNA3 TGM1 OCRL CFI TMEM237 DNAJB11 SOX18 TMEM67 COL4A4 SDCCAG8 SLC2A9 TBL2 RFWD3 ZNF423 ERCC4 SLC34A1 PTPRO BBS10 LRIG2 APRT NPHP1 MAGI2 MT-TL1 TSC1 MOCOS LMX1B SAA1 TSC2 TBC1D8B PAX6 CLCNKB CEP83 TRAF3IP1 ALMS1 ZNF699 CACNA1S STAT4 MME DYNC2I1 HLA-DRB1 TRPC6 GATA3 PAX2 SLC7A7 OSGEP NCF1 KIAA0586 SLC26A1 THBD MT-TE INF2 COL4A5 HPSE2 DNAJC30 PPOX GSN TP53RK SALL1 ERAP1 SRCAP AMMECR1 ANLN LCAT PRPS1 CLCNKA PKD2 BCL7B PRKCD ARHGDIA PIGA SLC5A1 RAD21 CCNQ SLC3A1 SIX1 DHDDS TMEM138 CPT2 EIF2AK3 IL23R FLT1 BRCA2 COG1 ACTN4 NPHS1 FAH IQCB1 LDHA ELN SCNN1B SEC61A1 BSND EIF4H IRF5 INPP5E NUP133 LPIN1 HRAS NPHS2 DAAM2 CD2AP PBX1 JAG1 COQ8B FANCA SHPK SLC22A12 FN1 BICC1 FUZ IRAK1 NOD2 SETD2 SULT2B1 SIX5 SCARB2 PYGM BRD4 BUD23 VANGL1 CFHR3 BNC2 DACT1 CLDN3 CC2D2A NPHP3 NUP205 FANCB GCDH HSD11B2 INVS IL10 TTC21B SCNN1G GATM NUP93 SLC30A9 COL4A1 EHHADH CCN2 DZIP1L EHMT1 CCND1 GCM2 CDC73 FAN1 HPRT1 WT1 UMOD LIPN PLCE1 NFS1 ALG9 FANCF REN CYP4F22 SARS2 MYOCD ANKFY1 PRDX1 PGK1 CAV1 ERCC6 BRCA1 TMEM270 CTLA4 KYNU RAD51C CFHR1 CEP120 AVIL WDR73 C3 MYD88 UBAC2 NOS1AP GTF2IRD1 NUP37 SDR9C7 STAT2 DSTYK SLC37A4 OFD1 RYR1 IFT80 ALOXE3 KLRC4 OCLN GLIS2 APOL1 NUP160 LAMB2 APOE C4A NOTCH2 GLA IFT43 TMEM216 SLX4 MT-TT TPRKB HELLPAR DNASE1L3 GPR35 NLRP3 APC2 CFHR5 NUP85 ACSL4 METTL27 GANAB NIPBL MAFB TLR4 CLDN19 MDM2 PGAM2 KARS1 MEN1 XRCC2 ACP5 TCF4 AHI1 GAPVD1 PKDCC COL4A6 ALDH4A1 ANKS6 IL12A-AS1 CLDN10 B2M SPRY2 MMP1 DYNC2I2 IFT122 ZNF592 CD46 ALDOB HLA-DPB1 FANCC RFC2 ELP1 SEMA4D BBIP1 IKZF1 UBE2T RAD51 EMP2 IFT140 MAD2L2 HBB CFHR2 PRTN3 TCN2 HLA-B SCNN1A ITGA3 RASGRP1 CLIP2 SMARCAL1 MMACHC FANCE KCNE5 ABHD11 PKD1 SH2B1 WDR35 CLDN16 NSD1 NIPAL4 CASP10 FAM20A TMEM231 ALOX12B FANCI TBX18 LAT2 MAPKBP1 PHYH STX1A IFT172 CORIN STS BTNL2 TMEM260 STOX1 MLXIPL FANCL CHRM3 CCR6 CD81 SPP1 LIMK1 EYA1 BAZ1B CEP164 FXYD2 PEX7 IL12A DYNC2H1 DGKE TMEM126B IFT27 MST1 XPNPEP3 SMC3 LHX1 BBS9 CSPP1 AP2S1 SMC1A GTF2IRD2 ALDOA NEK8 GRHPR LZTFL1 FKBP6 MYH9 CHD4 CLDN4 COL7A1 VPS37D FASLG ARHGAP24 FANCG PNPLA6 CFB KCTD1 BRIP1 FANCD2 RMND1 ABCA12 LAGE3 FANCM PALB2 HP_HORSESHOE_KIDNEY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HORSESHOE_KIDNEY CCNQ RPS28 SOX4 BICRA ARID2 HMGA2 RPS15A NRAS COLEC10 RPL27 STRA6 FANCI ADA2 SMOC1 HNF1B COLEC11 SEMA3E RPL18 MYCN THOC6 FAT4 ESCO2 POR SLX4 TCTN3 SC5D DSTYK DDB1 RPL35 KDM6A DYNC2LI1 ARID1B SMARCE1 RPL35A FANCA CCBE1 KAT5 ZIC3 GATA1 FANCC PBX1 RPL11 SON GREB1L RBM8A AFF4 RPL15 FANCD2 SNRPB TSR2 RPS19 UBE2A PORCN SMARCA4 RPS7 DPF2 FGFR2 RPS27 MAP3K7 SSR4 KRAS CHD7 SMARCB1 CWC27 WT1 PAX2 RPS20 DDX59 RPL5 SALL4 RPL31 MNX1 HNRNPU FANCE RBM10 RARB ADAMTS3 CFAP418 STAG1 LEMD3 DSE EXTL3 RPS29 RPS10 RPS26 AFF3 DKC1 RPL26 CAPN15 SMARCC2 PUF60 SRY CHST14 SMARCD1 HRAS CHUK CD96 RPS17 RPS24 SOX11 ARID1A HP_ECTOPIC_KIDNEY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTOPIC_KIDNEY CCNQ USP9X BAZ1B HMGA2 GTF2I STRA6 MAFB CCBE1 GTF2IRD1 KMT2D CLIP2 SMS ELN SPINK5 DDX59 FAT4 DYRK1A ABHD11 SLX4 PIK3CD XRCC4 SALL4 FANCF RIPK4 HOXD13 SPECC1L PUF60 FANCE DNA2 ADAMTS3 WAC GTF2IRD2 RTTN NIPBL FANCA LEMD3 EIF4H LAT2 KDM6A GLI3 STX1A NCF1 FANCC PBX1 RFC2 FKBP6 ZEB2 CLDN4 APC DNAJC30 FUZ FANCD2 VPS37D SNRPB KNSTRN MLXIPL SALL1 BUD23 DACT1 NRIP1 TMEM270 FGFR1 VANGL1 METTL27 WT1 RBBP8 BCL7B JAM3 TBL2 ARID1B LRP4 LIMK1 CLDN3 DDX6 CHN1 RPS26 HP_RENAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_HYPOPLASIA SEC24C ZPR1 HMGA2 GTF2I STRA6 FANCI COMT NODAL GTF2IRD1 INTU SEMA3E ATRX JMJD1C DCHS1 CLIP2 MUC1 COX14 BCOR ABHD11 FANCF WDR35 MBTPS2 HNF1B WDR19 ELN FBXW11 ROBO2 GEMIN4 ERCC8 NIPBL EIF4H NOTCH2 NCAPG2 PAX2 DYNC2I1 TBX18 LAT2 GLI3 HSPA9 CENPF STX1A TXNL4A PBX1 IFT80 JAG1 DLL4 DHCR7 BMP4 FREM2 RAD21 FGFR3 MLXIPL DYNC2I2 BUD23 METTL27 TBL2 HIRA ARID1B PIEZO2 MDM2 DACT1 LIMK1 DYNC2H1 KIF14 CLDN3 ATN1 LRP4 FRAS1 TRRAP CHD7 MYOD1 FGF10 TBX1 BAZ1B SKIV2L GRIP1 KCNJ2 PPP1R15B SALL1 ERCC6 TBX3 PUF60 UFD1 RNU4ATAC FAT4 XRCC4 ZNF699 FGFR2 RFWD3 CEP120 RARB GTF2IRD2 PQBP1 GP1BB ARL6 LEMD3 FANCL RPS19 AFF3 NCF1 RFC2 REN FKBP6 ARVCF KCNJ5 CLDN4 DNAJC30 TTC37 VPS37D B3GLCT CEP55 RREB1 NAA10 PDE6D SALL4 PRMT7 TMEM270 KCTD1 NFIA BCL7B MCM5 HAAO RMND1 KYNU HP_NEPHRONOPHTHISIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEPHRONOPHTHISIS CEP120 DYNC2LI1 IQCB1 CEP164 RPGRIP1L NPHP1 INVS CEP290 IFT172 ZNF423 TRIP11 SDCCAG8 DYNC2H1 CEP41 AHI1 TMEM67 WDR19 FAN1 DCDC2 NPHP3 IFT80 XPNPEP3 CEP83 TRAF3IP1 GLIS2 NPHP4 ANKS6 DYNC2I1 NEK8 MAPKBP1 DYNC2I2 IFT43 TMEM216 TTC21B TMEM138 IFT140 HP_ABNORMAL_RENAL_TUBULE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_TUBULE_MORPHOLOGY GTF2I NPHP1 MYO1E CLCNKB NUP107 MT-ND5 GTF2IRD1 ITGA3 CLIP2 CLCN5 MUC1 COQ2 ABHD11 LAMB3 BSND MT-ATP6 CPT2 ANTXR1 CA2 ELN GLIS2 FOXP3 NPHP4 TRAF3IP1 NDUFAF6 EIF4H MT-ND3 LAT2 CTNS STX1A PUS3 BTNL2 SHPK SLC22A12 MT-ND1 NPHS1 MT-TK SCO2 FOXC2 MT-ND4 BUD23 SLC2A9 METTL27 TBL2 BCS1L LIMK1 CLDN3 PDSS2 AGT PMM2 BAZ1B GLA MT-ND2 RPGRIP1L MT-TL1 ALMS1 SLC30A9 NUP133 PTPRO VPS33A MRPS22 WDR19 FAN1 NPHP3 XPNPEP3 NDUFS2 MT-TW CEP83 UMOD ACP5 SLC37A4 GTF2IRD2 MT-ND6 LAMC2 NDUFAF3 HLA-DRB1 ACE IFT122 NCF1 AGTR1 RFC2 REN FKBP6 PKHD1 CLDN4 SLC7A7 DNAJC30 VPS37D NDUFB8 MLXIPL LAMA3 DPH1 SURF1 MT-TV GBE1 MMUT TMEM270 INVS BCL7B SLC12A3 OCRL MRPL3 TMEM67 HP_RENAL_TUBULAR_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_TUBULAR_ATROPHY NUP107 RPGRIP1L NPHP1 NPHP3 MYO1E XPNPEP3 REN CEP83 UMOD GLIS2 NPHP4 NPHS1 NUP133 TMEM67 CLCN5 ITGA3 MUC1 VPS33A HP_GLOMERULAR_SCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLOMERULAR_SCLEROSIS WT1 COQ2 PLCE1 SDHD NUP133 WDR73 MYO1E MT-TS1 NOS1AP CLCNKB MT-TL1 NUP107 NUP37 SLC37A4 MT-ND6 ITGA3 CLCN5 SMARCAL1 MUC1 ACTN4 NPHS1 NUP93 VHL FAH BSND KIRREL1 ELP1 APOL1 SEC61A1 NUP160 MT-CO2 PAX2 NPHS2 DAAM2 CD2AP CRB2 MT-TS2 SGPL1 ANLN NUP205 TPRKB JAG1 COQ8B TMEM127 SDHB MT-ND1 SCARB2 KIF1B COL4A3 INF2 NUP85 RET TRPC6 MT-ND5 MT-TH COQ6 MTX2 PTPRO SDHC MT-CO3 TBC1D8B MAGI2 VPS33A GAPVD1 MT-CO1 LMX1B DLST MT-TF EPAS1 SDHA MAX FH OSGEP MT-TQ REN TP53RK ARHGAP24 DNMT3A SLC25A11 ITGB4 ANKFY1 MT-TW TREX1 SDHAF2 G6PC1 NARS2 EMP2 SLC12A3 LAGE3 ARHGDIA MT-ND4 NF1 PLEC MDH2 HP_FOCAL_SEGMENTAL_GLOMERULOSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_SEGMENTAL_GLOMERULOSCLEROSIS CD2AP WT1 PLCE1 NUP133 NUP205 WDR73 MYO1E MT-TS1 MT-CO3 CLCNKB MT-TL1 NUP107 NUP37 NUP93 TBC1D8B SLC37A4 MT-ND6 ITGA3 MAGI2 SMARCAL1 PTPRO ACTN4 NPHS1 VPS33A GAPVD1 MT-CO1 LMX1B KIRREL1 APOL1 SEC61A1 NUP160 MT-TF MT-CO2 TRPC6 PAX2 NPHS2 DAAM2 CRB2 MT-TS2 MT-TQ REN SGPL1 ANLN JAG1 INF2 COQ8B CLCN5 ARHGAP24 MT-ND1 SCARB2 ANKFY1 MT-TW COL4A3 NUP85 G6PC1 NARS2 MT-ND5 EMP2 SLC12A3 ARHGDIA MT-TH MT-ND4 COQ6 MTX2 HP_TALL_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TALL_STATURE NSD2 FIBP MYT1L C1R KMT2E CCDC32 NF1 GPC4 NRAS PIGA DIS3L2 PIK3CA HPGD TGFB1 TUBB4A FBN1 RTL1 FOXE3 CDKN2B NTNG1 FOS GPR101 WDFY3 ZNF469 KCNQ1OT1 STRADA TGFB2 CAVIN1 TGFB3 AGPAT2 NSDHL MAN2B1 SMAD3 NELFA SLC12A2 KANSL1 FGFR3 AIP POF1B APC2 GRIA4 RNF135 EZH2 EED ACTL6B TGFBR1 KCNMA1 CBS TCF20 PIGL HEY2 MFAP5 MYLK FARSB AKT1 HUWE1 LARS2 HS2ST1 CTBP1 BPTF GRIA3 ABAT PYROXD1 PUS7 PTPN23 SMS SHANK3 UBR7 LOX PTEN KBTBD13 NFIX COL1A2 PLOD1 MC2R STAR MEG3 GPC3 POLG SUZ12 LRP4 EHMT1 ELN COL2A1 COL6A3 DSE SLC6A8 NONO TYMP RLIM ZDHHC9 ACTL6A MRAP SUFU MAPK8IP3 NEB HPDL PDGFRB IGF2 HNRNPK CHST14 KIF7 BCORL1 KDM4B DICER1 YWHAE PSMD12 FKBP14 HRAS MTM1 KLHL41 AGO2 PPARG NNT PIGG FBLN5 SMAD4 PALS1 JARID2 TPM2 TGFBR2 RERE MC4R MEN1 ZMIZ1 DNA2 WRN FGF3 UPF3B MYH11 WASF1 PTCH1 CDKN1B CPLX1 NSD1 FAM20A LHCGR TXNRD2 ATP6V1E1 COL6A2 TRIP12 SVBP CDKN1C DNMT3A ASXL3 ACTA1 HERC1 TRIM32 TANC2 DLK1 ACTA2 SETD2 MED27 ESR1 AGGF1 SARS1 MED12 PDE8B CYP19A1 NKAP CNOT3 BSCL2 TPM3 KRAS COL6A1 ATP6V1A SMAD2 KAT8 DPYSL5 NPR2 PDE11A SRY TIMM50 POLR3A PRKG1 FBN2 KCNQ1 DDX6 MYPN MED13 HSPG2 CCND1 NTNG2 MAT2A CAV1 DOCK3 PAFAH1B1 SOST GLI3 CDKN2C LETM1 POR PRKAR1A CHD8 CDKN1A HTT PRKACA TNRC6B DLG4 TRMT1 RET EFEMP2 TRAPPC4 SATB1 FBXW11 AR KMT2C MADD CNOT1 HP_GLOMERULONEPHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLOMERULONEPHRITIS WT1 PLCE1 NUP133 FCGR2B NUP205 LMX1B CFHR2 C3 CFHR3 MYO1E NUP107 SOCS1 C1QA NUP37 RASGRP1 MAGI2 DGKE TREX1 ACTN4 NPHS1 GAPVD1 NUP93 C4A PTPN22 WDR19 KIRREL1 COL4A3 TBC1D8B ALMS1 APOL1 CASP10 FOXP3 MME NUP160 FAS FCGR2A PRKCD LMNB2 MMP1 PGM3 C1QB DAAM2 CD2AP CRB2 NPHS2 ANLN JAK1 COL7A1 ZAP70 SLC7A7 DNASE1 EMP2 CTLA4 FASLG SMARCAL1 ARHGAP24 CFHR5 ANKFY1 C1QC CFI INF2 NUP85 SOX18 TRPC6 CD81 COQ8B LAGE3 COPA ARHGDIA PAX2 PTPRO HP_NEPHROTIC_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEPHROTIC_SYNDROME CASP10 COQ2 GATA4 LMX1B LZTFL1 AVIL CFHR2 SNAP29 ARHGDIA WDR73 MYO1E C3 NLRP3 CFHR3 NOS1AP NUP107 BBS1 ARL6 ITGA3 SMARCAL1 MARS1 C1QBP SLC17A5 KIRREL1 COL4A3 BBS12 ZAP70 MEFV FOXP3 NR5A1 WT1 ZFPM2 IFT27 LAMB2 LYZ MKS1 NPHP1 PAX2 NUP133 DCLRE1C TBX18 LMNB2 STAT4 NPHS2 ALG1 PUS3 SGPL1 NUP205 TPRKB JAK1 WDPCP COQ8B NEXMIF NPHS1 FN1 EMP2 IRAK1 SCARB2 BBS5 BBS7 RASA1 NUP85 COL4A4 APOA1 KANK2 SRY VAMP7 DMRT3 IL2RG SPP1 IFT74 PDSS2 COQ6 CHST14 PMM2 GLA WDR4 IL7R BBS9 RAG1 CYBC1 NUP93 TBC1D8B SLC35A2 VPS33A DGKE PTPRO SDCCAG8 CCND1 COL4A5 SAA1 SOX9 GSN SCAPER CEP290 CHD7 PLCE1 MME RAG2 WWOX CFAP418 TRPC6 B2M GATA3 TTC8 OSGEP IFIH1 ZNF592 CRB2 ADA MAGI2 MAP3K1 LAGE3 NR0B1 TP53RK DHX37 LIG4 ANLN IFT172 SERPINA1 RMRP BBS4 BBS2 TRIM32 BBIP1 MKKS PRKCD FGA CEP19 DAAM2 BBS10 NUP160 HP_POLYURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYURIA CLCNKB NPHP1 CTNS LZTFL1 CASR KCNJ1 SON ATP1A1 SLC12A1 NPHP4 SARS2 SLC34A1 SLC12A3 BSND NPHP3 CLDN16 HNF1A ITPR3 IL6 KCNJ10 PTPN22 KCNJ5 FAM20A MAGED2 SLC5A2 TMEM67 CYP24A1 CLCNKA PLVAP CLDN10 AQP2 AVPR2 HP_RENAL_AGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_AGENESIS WNT4 RPS28 TFAP2A RPS15A HS6ST1 ADA2 SEMA3A KNSTRN HNF1B RPL18 SIX3 FANCB TAF13 HOXD13 ANKLE2 ANOS1 TCTN3 SF3B4 RPL35 RPL35A GLI2 ERCC8 RTTN FANCA TNXB PHC1 PROKR2 CENPJ METTL5 ZIC3 PYCR2 GATA1 FANCC PRKAR1A GREB1L GDF6 TSR2 APC2 FGF8 EYA1 CHD7 TGIF1 SDCCAG8 FREM2 CIT MBTPS2 MCPH1 SOX10 RPS27 FREM1 KIF14 LRP4 CDK6 CDC42 DUSP6 TACR3 CCDC141 ZIC2 MKS1 CDON CEP152 FGF17 FGF20 SON SASS6 RPS20 RPL5 TRAPPC14 TMEM67 ASPM FOXH1 RET PDE6D NDUFAF3 FGFR2 SHH RPS29 LMBRD1 RPS10 RPS26 COG6 TP63 ATRX RPL26 NODAL PUF60 FAM149B1 PIK3C2A ITGA8 SRCAP PROK2 HESX1 SALL4 CPLANE1 PTPN11 WDR62 RPS24 GAS1 CCNQ FGFR1 STIL GATA3 RPL27 SEMA3E THOC6 DYRK1A SH2B1 COPB2 IL17RD NSD1 NADSYN1 WBP11 MFSD2A DCC NSDHL ALDH18A1 CEP135 GLI3 FLRT3 PBX1 TMEM216 STS FUZ RPL15 FANCD2 PPP2R1A DHCR7 RPS19 SETD2 SCO2 RPS7 VANGL1 ANKRD17 CEP63 PIK3CD CDK5RAP2 ATN1 RPL11 SIX1 KIF7 NDNF ERCC6 KNL1 DHCR24 OFD1 WDR11 XRCC4 RPL31 NDUFS2 PTCH1 FANCE INSL3 WNT3 FGFR3 TBC1D24 FGF10 PHGDH POR TDGF1 PIEZO2 NDUFB8 FEZF1 KIAA0753 SURF1 NCAPD3 CTU2 DLL1 PPP2R3C DISP1 KCTD1 TBX1 RPS17 SPRY4 SUFU HS2ST1 HP_ENLARGED_KIDNEY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_KIDNEY CPT2 NPHP3 DYNC2H1 WT1 PKD2 CDKN1C BICC1 INSR PKHD1 PIK3CA IGF2 KCNQ1 ZIC3 VPS33A ALG9 FANCB BMPER DZIP1L PKD1 SLC37A4 SAA1 FAH FIBP DNAJB11 G6PC1 CD81 INVS GPC3 GANAB SLC29A3 GPC4 NEK8 KCNQ1OT1 ANKS6 CILK1 HP_RENAL_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_CYST FIBP PEX6 GPC4 MKKS TFAP2A GTF2I NPHP1 HDAC8 BUB3 BUB1B CEP290 TMEM231 VHL GTF2IRD1 HNF1B ZNF423 PEX1 BBS1 ARL6 TRIP11 BMPER MUC1 ESCO2 PEX13 NPHP3 OFD1 HOXD13 LAMB3 BBS12 KCNJ11 TCTN3 ALG9 MMP23B TMEM107 LRP5 RSPO2 PKHD1 MCTP2 PEX26 TMEM216 CLPB CRB2 NPHP4 PRKCSH KCNQ1OT1 SH2B1 IFT27 MKS1 NOTCH2 DYNC2I1 GLI3 TCTN1 SPEN PEX3 RPGRIP1L IFT80 B9D1 GREB1L ZEB2 PEX10 SEC63 TSC2 PEX12 CSPP1 FREM2 DYNC2I2 BBS5 EYA1 DNAJB11 B9D2 BBS7 ETFA WNT3 INS NXN SDCCAG8 TMEM67 METTL27 GANAB JAM3 NIPBL TBL2 MBTPS2 DYNC2H1 IFT74 PDSS2 LIPT2 CWC27 BBS10 ZNF148 TSC1 PAX1 AKT1 GRIP1 PIGN INPP5E BBS9 CDC73 SALL1 HDAC4 BLK RERE PRKCZ PEX16 PEX5 SHANK3 PDX1 PORCN PTEN AMER1 PAX4 BBS4 SCAPER ABCC8 ROR2 GPC3 CC2D2A IFNG ANKS6 LAMC2 KAT6B GLIS3 LUZP1 SPOP PAX2 TKT LMOD1 WDR35 FLNB NCF1 KIAA0586 RFC2 DNAJC30 IGF2 TTC37 B3GLCT PIGQ LAMA3 PEX19 SRCAP CEP55 IFT172 SETBP1 NRIP1 INVS CD96 PKD2 BBIP1 SNRPB BCL7B OCRL NEK8 TXNDC15 IFT43 MYLK RAD21 TMEM237 SEC24C LZTFL1 GATA3 SIX1 BUB1 COMT ARL3 PEX11B JMJD1C CLIP2 DYRK1A COQ2 ABHD11 PKD1 B4GAT1 CPT2 PIGT ELN MYH11 RPGRIP1 SEC61A1 EIF4H TBX18 LAT2 MAPKBP1 CEL STX1A KCNAB2 NEUROD1 NEK1 WDPCP JAG1 CDKN1C HNF4A STK11 BICC1 DHCR7 TMEM260 UBE4B CHRM3 IFT140 BRD4 MSH3 BUD23 DHX16 HIRA DACT1 LIMK1 CLDN3 SKI PEX2 FRAS1 TRRAP ETFDH PMM2 TBX1 BAZ1B ARL6IP6 SKIV2L HSD17B4 ACTG2 KLF11 APPL1 HSPG2 KCNQ1 COL4A1 PUF60 UFD1 RNU4ATAC DZIP1L CEP57 CASZ1 PRDM16 XPNPEP3 SMC3 LHX1 CCND1 HNF1A ETFB CEP120 AP2S1 SMC1A FLI1 GTF2IRD2 GP1BB CFAP418 TTC8 SIX5 TBC1D24 PEX14 FKBP6 ARVCF CLDN4 PIEZO2 VPS37D TRIP13 GCK TMEM138 MLXIPL RAD51C FLCN MT-CYB TCTN2 RREB1 ALG8 TMEM270 BBS2 TRIM32 RMND1 CEP19 GABRD PDPN HP_RENAL_CORTICOMEDULLARY_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_CORTICOMEDULLARY_CYSTS CRB2 NPHP4 TMEM67 NPHP1 NPHP3 XPNPEP3 MUC1 HP_RENAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_DYSPLASIA FIBP ZNF148 SIX1 NPHP3 DMXL2 GATA3 GNAO1 TRIM8 SALL1 ARX CDKL5 USP9X INTS1 CASK MYCN SON AMMECR1 SCN2A B4GAT1 MBTPS2 ITGA6 NDUFS2 FKTN PIGN ZNF699 POMT1 PIGT PIGQ NEUROD2 CSPP1 FKRP NDUFAF3 SIK1 PNKP TBX18 ITGB4 TTC8 PAX2 GLI3 PBX1 KIAA0586 TP63 DYNC2H1 SCN1B JAG1 GREB1L PIEZO2 BICC1 NDUFB8 SCO2 SIX5 SURF1 ITGA8 CEP55 IFT140 EYA1 POMT2 SMO KCNA1 CPLANE1 SDCCAG8 TBX1 PIGP SHANK3 BNC2 RMND1 LARGE1 STXBP1 SLC25A22 PLVAP COQ7 PLEC HP_NEPHROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEPHROPATHY CEP120 DYNC2LI1 VPS33B NLRP3 SLC2A2 MT-TS1 VIPAS39 PRODH MT-TL1 TMEM138 SCNN1A MT-ND6 FOXI1 MMACHC TMEM237 WAS WDR19 CLDN19 IFT80 KCNJ11 KCNJ10 WT1 SEC61A1 LYZ ADA2 MT-CO2 INPP5E SCNN1B CEL NUP107 NEUROD1 MT-TS2 TMEM216 TTC21B RPGRIP1L PAFAH1B1 HNF4A NOD2 SMARCAL1 MT-ND1 SCARB2 IFT140 TPRKB WFS1 CEP290 MT-ND5 APOA1 INS MEFV CISD2 MAFB MT-TH ZNF423 GLA CC2D2A WDR73 WDR4 KLF11 MT-CO3 BLK SCNN1G APPL1 IFT172 SLC26A4 WIPF1 DYNC2H1 CCND1 PDX1 MT-CO1 COL4A1 SAA1 PAX4 CPOX NUP133 PAX6 YWHAE FAM20A HPRT1 ABCC8 UMOD HNF1A COL4A6 DYNC2I1 TTR MT-TF B2M DYNC2I2 MT-TQ MYH9 LAGE3 COL4A5 TMEM231 TMEM67 OSGEP GCK MT-TW TREX1 PRDX1 TP53RK NPHP1 SLC5A2 FGA HIC1 MT-ND4 HP_POLYCYSTIC_KIDNEY_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYCYSTIC_KIDNEY_DYSPLASIA ETFDH TBX1 SEC24C SKIV2L SIX1 NPHP3 GATA3 MKKS COMT MKS1 CDC73 ZNF423 TRIP11 JMJD1C SHANK3 UFD1 DZIP1L TSC1 ESCO2 TMEM231 PEX5 TSC2 ALG9 TMEM107 CPT2 PKHD1 ETFB ANKS6 GP1BB GLIS3 PEX12 WDR35 DYNC2H1 ARVCF NEK1 TTC37 SRCAP GANAB EYA1 RREB1 ETFA PKD2 HIRA OFD1 IFT43 PKD1 HP_PROXIMAL_TUBULOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_TUBULOPATHY ETFDH SLC34A1 NDUFS2 NDUFAF8 MT-TS1 LRP2 MT-CO3 CTNS MT-TL1 MT-ND3 NDUFAF3 NDUFAF4 CLCN5 MT-ND6 NDUFS6 MT-CO1 OCRL HBB NDUFS7 NDUFA1 NDUFS4 NDUFAF2 NDUFV2 ETFB TIMMDC1 MT-TF FOXRED1 MT-CO2 NUBPL NDUFS3 NDUFS1 RRM2B NDUFB11 PMM2 COG6 MT-TS2 MT-TQ NDUFA6 NDUFA11 NDUFB10 NDUFV1 MT-ND1 MT-ND2 NDUFB9 MT-TW NDUFAF5 ETFA MT-ND5 NDUFS8 NDUFAF1 NDUFB3 TMEM126B MT-TH MT-ND4 ALDOB HP_RENAL_PHOSPHATE_WASTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_PHOSPHATE_WASTING SLC9A3R1 CLCN5 CTNS FGF23 SLC34A1 DMP1 GNAS GATM SLC34A3 INPPL1 PHEX NDUFAF6 EHHADH ENPP1 HP_NEPHROCALCINOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEPHROCALCINOSIS CDC73 ENPP1 GTF2I VPS33B SLC2A2 SRP54 KCNJ1 VIPAS39 SLC12A1 GTF2IRD1 GNA11 CLCN5 CLIP2 AMMECR1 STX3 ABHD11 OCRL AGXT FAH HOGA1 SLC4A1 COL4A3 SRCAP CLDN16 PIGT SBDS ELN FAM20A CLPB CYP24A1 KCNQ1OT1 STRADA BSND FUT8 EIF4H LAT2 GALNT3 STX1A BTNL2 CDKN1C INSR TRNT1 PEX3 TOR1A CASR HNF4A SLC34A1 MLXIPL BUD23 SLC34A3 METTL27 MEFV TBL2 FGF23 MAGED2 CLDN19 LIMK1 CLDN3 DNAJC21 ATP6V1B2 TBC1D24 BAZ1B MEN1 ABCC6 HSD11B2 KCNQ1 DYNC2I2 GCM2 PIK3C2A ATP6V0A4 CLCNKB SLC37A4 PTH1R GTF2IRD2 HLA-DRB1 ADAT3 GATA3 NCF1 GRHPR RFC2 FKBP6 AIRE CLDN4 DNAJC30 IGF2 ZNF687 VPS37D CLCNKA TMEM270 BCL7B MYO5B ALPL HP_UNILATERAL_RENAL_AGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNILATERAL_RENAL_AGENESIS SF3B4 STIL GATA3 CDC42 ERCC6 CEP152 KNSTRN KNL1 SON SASS6 DYRK1A TRAPPC14 XRCC4 TMEM67 TAF13 COPB2 ANKLE2 HNF1B ASPM PUF60 NADSYN1 WBP11 MFSD2A ERCC8 RTTN TNXB PHC1 ALDH18A1 CENPJ METTL5 LMBRD1 WNT4 CEP135 PYCR2 THOC6 GLI3 COG6 PBX1 POR STS PRKAR1A CIT GDF6 PPP2R1A DHCR7 PROKR2 NCAPD3 CTU2 PPP2R3C TBX1 ANKRD17 ANOS1 KIF14 MBTPS2 MCPH1 CEP63 PTPN11 PIK3CD CDK5RAP2 WDR62 HS2ST1 CDK6 HP_NEPHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEPHRITIS CASP10 WT1 PLCE1 NUP133 FCGR2B HOXA13 LMX1B CFHR2 C3 CFHR3 MYO1E NUP107 SOCS1 NUP37 RASGRP1 MYCN TREX1 ACTN4 NPHS1 PKD1 NUP93 PLG C4A CD151 KIRREL1 COL4A3 APOL1 FOXP3 NUP160 FAS LMNB2 STAT4 PGM3 DAAM2 MYH11 CD2AP CRB2 NPHS2 ANLN JAK1 ZAP70 EMP2 FBLN5 IRAK1 SMARCAL1 CFHR5 C1QC KCTD1 CFI NUP85 DNAJB11 SOX18 TRPC6 CD81 COL4A4 EFEMP2 GANAB SHANK3 BNC2 SPP1 COPA DNASE1L3 PAX2 PTPRO NUP205 ALMS1 PKD2 BICC1 C1QA MAGI2 DGKE XDH VPS33A GAPVD1 COL4A5 PTPN22 WDR19 TBC1D8B UMOD MME ALG9 FCGR2A PRKCD MMP1 C1QB MYH9 COL7A1 SLC7A7 DNASE1 CTLA4 FASLG ARHGAP24 ANKFY1 INF2 COQ8B LAGE3 ARHGDIA HP_RENAL_TUBULAR_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_TUBULAR_DYSFUNCTION HNF4A SLC34A1 VPS33B SLC2A2 MT-TS1 CLCNKB VIPAS39 MT-TL1 ATP7B ATP6V1B1 HNF1B NDUFAF4 CLCN5 MT-ND6 NDUFAF6 COQ2 OCRL FBXL4 FAH COA8 NDUFS7 PHKA2 SLC4A1 CLDN16 CYP11B2 NDUFAF2 NDUFV2 CAD GCK NOTCH2 MT-CO2 MT-TN NDUFS1 RRM2B NDUFB11 CTNS MT-TS2 NDUFA11 JAG1 MMUT SLC34A3 PC UQCC2 SCO2 CA2 KCNJ11 MT-ND1 MT-ND2 PDX1 NDUFAF5 STAT3 ETFA MT-ND5 FN1 CPT1A MT-TH PDSS2 KYNU ETFDH PHKG2 NDUFS2 NDUFAF8 LRP2 MT-CO3 KCNJ2 GATM MT-ND3 NDUFAF3 NDUFS6 EHHADH MT-CO1 HBB NADK2 ATP6V0A4 NDUFA1 INS NDUFS4 ETFB SLC4A4 GNAS TIMMDC1 PHEX PEX19 MT-TF FOXRED1 SURF1 NUBPL NDUFS3 GATA3 PMM2 COG6 MT-TQ NDUFA6 NDUFB10 KCNJ5 NDUFB8 NDUFV1 ABCC8 NDUFB9 MT-TW BCS1L NDUFS8 SLC5A2 SLC12A3 NDUFAF1 NDUFB3 RMND1 TMEM126B MT-ND4 PIGA EPG5 ALDOB HP_PELVIC_KIDNEY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PELVIC_KIDNEY BAZ1B LAT2 STX1A NCF1 GTF2I RFC2 STRA6 FKBP6 PUF60 ZEB2 CCNQ GTF2IRD1 CLDN4 DNAJC30 FANCD2 VPS37D CLIP2 ELN MLXIPL DYRK1A ABHD11 SLX4 FANCF BUD23 TMEM270 FGFR1 METTL27 BCL7B TBL2 WAC GTF2IRD2 LIMK1 RTTN CLDN3 DDX6 EIF4H HP_RENAL_SALT_WASTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_SALT_WASTING CYP11B2 CLCNKB CYP11A1 MRAP STAR KCNJ1 SLC12A1 SARS2 MUC1 HSD3B2 SCNN1B KCNJ10 SCNN1A NR0B1 BSND MC2R CLCNKA CYP11B1 NNT KCNJ16 SCNN1G CYP21A2 TXNRD2 HP_RENAL_POTASSIUM_WASTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_POTASSIUM_WASTING ATP1A1 SLC12A1 SLC12A3 CLCNKB KCNJ1 KCNJ10 HP_ABNORMALITY_OF_THE_UTERUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_UTERUS GNRH1 HOXA13 FOXL2 COL1A1 HDAC8 BMPR1A STRA6 FLI1 CCNQ PTEN HNF1B HS6ST1 ESCO2 DHH SLC6A17 KISS1 NUP107 NDP ALG9 FH FOXF1 NSD2 AKT1 FGFR3 RPS6KA3 TNXB PROKR2 SOX9 DYNC2I1 MRPS22 PIK3CA MYRF PTPRJ RARB SLX4 SMAD3 IFT80 GREB1L RBM8A CCND1 CDH1 FREM2 DLC1 COX7B WDR11 DYNC2I2 MSH6 DCAF17 NRAS KISS1R TGFBR1 NIPBL EP300 RFWD3 ARID1B PMS2 DYNC2H1 AXIN2 ERCC4 KLLN FIGLA NR5A1 GREM1 SDHC CHD7 GRIP1 LARS2 PIGN XRCC2 PPP1R12A TP63 APC MKS1 SALL1 MSH3 TACR3 FLCN SEMA4A STAT6 WNT4 RPS20 TOE1 CYB5A PAX6 NDUFB11 FGFR2 COL4A6 FGFRL1 INTU PROK2 DCC CPLX1 GATA3 IRF6 FGF17 RAD54B PRKAR1A FANCC DHX37 SOHLH1 HCCS COL4A5 COL3A1 CLPP UBE2T B3GLCT CDKN1B ITGA8 RAD51 ADH5 COL5A2 DACT1 USF3 PSMC3IP RAD21 MAD2L2 MLH1 SEC24C SRC AURKA FSHR CTBP1 BMP15 CYP11A1 COMT JMJD1C BRCA2 THOC6 NAB2 FANCE TP53 ERAL1 WDR35 DMPK POLD1 POLR3H SRY LETM1 GNRHR WT1 FANCI TLR2 SPRY4 NIN GLI3 MINPP1 NTHL1 PLG FANCA BNC1 STK11 PPP2R1A DHCR7 FGF8 CYP11B1 C14orf39 BUB1 ESR1 COL5A1 MCC FANCL CHRM3 FGFR1 BRD4 SDHD CTNNB1 SETBP1 HIRA CYP17A1 PDGFRL NSMF BRAF HYLS1 FRAS1 FGF10 SF3B4 TBX1 MSH2 SDHB FANCB LRP2 AR BUB1B CHEK2 BAX TBX3 CREBBP UFD1 SEC23B CDC73 SPECC1L RIPK4 SMC3 TGFBR2 PTPN12 MNX1 WNT7A MLH3 SMC1A SPIDR GP1BB DUSP6 BMPR1B POLE FANCF PHGDH ARVCF AXIN1 FANCG RREB1 PLA2G2A BRCA1 BRIP1 FANCD2 TAC3 CXCR4 FANCM PALB2 RAD51C HP_MENORRHAGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MENORRHAGIA ITGA2B F2 GP1BB FLI1 GP1BA F7 F5 MCFD2 NBEAL2 GP6 SERPINE1 HPS5 PRLR SLC37A4 F13A1 VWF F10 GP9 PRKACG F11 ITGB3 F8 MYH9 LMAN1 USP8 BLOC1S3 F13B HPS4 PLAU CDH23 BLOC1S5 SLFN14 HP_GONADAL_DYSGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GONADAL_DYSGENESIS DHH GATA4 NR5A1 FSHR PPP1R12A MRPS22 DHX37 MINPP1 MAP3K1 BNC1 NR0B1 RXYLT1 MPLKIP GTF2E2 ZFPM2 HSD17B4 NUP107 TOE1 TARS1 SOX9 WT1 POLR3H ERCC3 RNF113A TWNK SRY VAMP7 GTF2H5 DMRT3 ERCC2 SPIDR WWOX BMP15 PSMC3IP HP_FEMALE_HYPOGONADISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEMALE_HYPOGONADISM GNRH1 CHD7 FGF17 MEN1 AIRE FSHB TACR3 AIP BMP4 HS6ST1 FGF8 KISS1R WDR11 FGFR1 KISS1 CDH23 GNRHR PRLR ZMPSTE24 TAC3 DUSP6 ATM NSMF LMNA PROKR2 PROK2 SPRY4 HP_HYPOGONADISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOGONADISM ERCC2 GNRH1 RNU4ATAC COQ2 PROM1 MRE11 A2ML1 RAD51 GTF2I GALK1 DUSP6 ITGB6 PCARE HERC2 WRN SEMA3A LMNA ERCC8 EIF2S3 BBS1 ARL6 MT-ND6 NR5A1 KISS1 SOX3 GNAS GPR101 ANOS1 MMP23B OFD1 SMAD4 STEAP3 SMCHD1 DHH IDH3B IER3IP1 HFE CTNS CBL SPEN MT-TS2 ERCC6 MAP2K1 SGPL1 PRKAR1A SOS2 PIK3CA AIP BBS12 WDR11 FGF8 MECP2 POU1F1 POLE RBM28 SOX10 DCAF17 NDN PLXND1 ERCC1 SDCCAG8 FGF17 TBL2 BCS1L SOS1 DMRT3 RFWD3 KIAA1549 POLR3B IDH3A ERCC4 SAG RGR BBS10 CCDC141 PDGFB PRPF31 TACR3 RNF216 CRX NRAS BBS9 USP7 RERE PRKCZ PRPH2 BAP1 IMPG2 TOPORS GUCA1B POLG CDH23 LHX3 BBS4 DMXL2 SCAPER DMPK ALMS1 IFT88 CEP290 TWNK PROK2 AHSG WWOX SOX9 PTCH1 NCF1 AR REEP6 FOXL2 FOXA2 SPATA7 PHF6 SUFU CNGB1 ARHGEF18 DNAJC30 CLPP POLR1C SEMA4A TP53 PROKR2 RRAS2 MT-TW TYMP SNRPN HESX1 CHD7 BBIP1 ANTXR1 BCL7B NSMF WFS1 ATM ROM1 BRCC3 SLC39A4 RRM2B LZTFL1 PTPN11 SNAP29 BMP15 SIL1 RAB3GAP2 ANAPC1 ARL3 ATRX DCC BRCA2 SRA1 RECQL4 ERCC5 PTCH2 USH2A ELN SLC29A3 MAGEL2 PDE6G ZFPM2 EIF4H SPRY4 RIN2 CRB1 FLRT3 TULP1 MAK PROP1 CTNNB1 ZBTB20 FANCA RRAS DNM1L UBE4B MYH3 BBS2 CNGA1 FSCN2 FGFR1 BUD23 DHX38 PDE8B OPA1 CISD2 TGFB1 KLHL7 SNORD116-1 CPE WT1 CLDN3 SMO PMM2 PTDSS1 LHX4 FSHB FANCB LHB HSPG2 PHGDH KIZ TTC8 RLBP1 RPE65 HBB PDE4D PWRN1 FANCE CFAP418 MKRN3 ALX4 MT-TF PRPF6 PWAR1 BMPR1B HSD17B3 LSS CYP17A1 FANCF RDH12 PNPLA6 TUB PRPF4 MT-TQ MAP3K1 NR0B1 SOX2 FEZF1 RP2 RBP3 BBS5 NECTIN1 FAM161A INPP5K REV3L BRCA1 TMEM270 TRIM32 POMGNT1 TAC3 CEP19 PDPN LEPR RAD51C SIM1 GATA4 MT-TS1 RIT1 HS6ST1 CA4 GTF2IRD1 ARL2BP KRAS NTN1 RAF1 BBS7 PDE6A CHRNG SLC3A1 LEP IFT27 MKS1 NPHP1 AKT1 EYS FANCC SLX4 PRPF3 DHDDS CDKN1C POLA1 CCDC28B BMP4 GLI2 PRCD IMPDH1 POLR3K TFR2 PSAT1 POLR3A RPGR KISS1R METTL27 SRY AXL NR2E3 VAMP7 SEMA3E MGME1 MDM2 MT-TH PDE6B IFT74 BRAF RHO CUL4B CYP19A1 XRCC2 MEN1 ERCC3 VPS4A MT-CO1 CYB5A XPA PRLR ZMPSTE24 RP9 LUZP1 TRAF7 HDAC8 GALT OCA2 PEX6 RFC2 ZNF408 ALG1 TP63 XPC AIRE ANK1 RP1 UBE2T DMRT1 CERKL DDB2 AGBL5 IFT172 FMR1 GNRHR MKKS MT-ND4 SLC7A14 MAD2L2 STUB1 ABCA4 ABCD1 MT-TL1 CLIP2 CNBP ABHD11 LRAT MRPS7 SMARCB1 ARSL IL17RD TRAF3IP1 POLD1 FANCI MT-CO2 CAMKMT LAT2 DNAL4 CTDP1 STX1A KCNAB2 GJB2 BMP2 PRPF8 HGSNAT WDPCP STS PREPL AMACR SAMD9 NRL IFT140 CBX2 FANCD2 HJV NF2 AHI1 SMARCE1 MT-ND1 FANCL LAS1L MT-ND5 CDHR1 BEST1 ZNF513 SCP2 LIMK1 SKI SIX6 PEX1 BAZ1B TERT NDNF MT-CO3 PDE11A MERTK PPM1B HAMP CLRN1 SNRNP200 MRAS OTX2 NEK2 CASZ1 AHR PRDM16 LZTR1 IGF1 GTF2IRD2 RP1L1 DHX37 FKBP6 CLDN4 RASA2 NPAP1 VPS37D FANCG MLXIPL PCSK1 RAB3GAP1 PRKACA BRIP1 LHCGR GABRD SNORD115-1 FANCM PALB2 HP_BIFID_UTERUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIFID_UTERUS CREBBP PHGDH EP300 DACT1 HYLS1 SALL1 HP_ABNORMALITY_OF_THE_OVARY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_OVARY GNRH1 PPARG GATA4 RAD51D FOXL2 RNF43 KEAP1 GTF2I GALK1 PALB2 MLH1 WNT10A SUFU F7 FLI1 GTF2IRD1 PTEN LMNA FMR1 BBS1 ARL6 NR5A1 HS6ST1 DHH SDCCAG8 KRAS KISS1 NUP107 FOS BBS12 AKT1 SOX3 LIPE LEP CYP11B1 FAS IFT27 LEPR ANTXR2 MKS1 NPHP1 PROKR2 SOX9 CAVIN1 RAD51 PIK3CA TGFBR2 AGPAT2 BRCA1 EWSR1 PMS2 INSR FSHB CCDC28B AIP BMP4 POF1B MLH3 WDR11 BBS5 BBS7 DCAF17 EIF2B5 MSH2 WT1 MCM3AP METTL27 SRY TBL2 VAMP7 DMRT3 MRE11 BRIP1 NPHP4 IFT74 KLLN OPCML FIGLA SDHC CHD7 PHKG2 CYP19A1 LARS2 PPP1R12A TP63 BBS9 TP53 ATM MEN1 BNC1 TACR3 TTI2 CHEK2 WNT4 POLG CDH23 CYB5A SCAPER PAX6 RELA TRAF3IP1 ALMS1 CEP290 MAP3K1 PRLR SLC37A4 ZMPSTE24 GNAS PALLD HFM1 NR0B1 WWOX PROK2 HNF1A GALT EIF2B2 NCF1 DIAPH2 FGF17 PRKAR1A RFC2 MRPS22 RCBTB1 RAD51C AIRE DNAJC30 AKT2 USP8 DMRT1 CDKN2A IFT172 SETBP1 HARS2 MDM2 USF3 BBIP1 BCL7B MKKS PTPN11 NPHP3 PTCH1 STAG3 AARS2 PSMC3IP ERBB2 PLIN1 FSHR LZTFL1 ZPR1 BMP15 CTNNB1 BRCA2 ANAPC1 FLT1 POLG2 WRN RASGRP1 CLIP2 FGFR2 POR ERAL1 ABHD11 DMPK MCM8 BARD1 PHKA2 POLR3H GNRHR ELN CASP10 RABL3 ZFPM2 MSH6 EIF4H SPRY4 LMNB2 RIN2 LAT2 STX1A IDH1 EIF2B1 CORIN NTHL1 WDPCP PLG STK11 CBX2 PRKN FGF8 STOX1 C14orf39 ESR1 KISS1R FGFR1 MSH3 BUD23 EPCAM SDHD TWNK SETD2 BSCL2 OFD1 CYP17A1 B4GALNT1 LIMK1 CLDN3 NSMF CDH1 MMP14 PTCH2 PMM2 BAZ1B IQCB1 CEP164 SDHB NOBOX LHB XRCC2 INVS AR ALG9 NBN PMS1 SEC23B DICER1 SMAD4 FAN1 GTF2IRD2 HSF2BP EIF2B4 SPIDR CAV1 CFAP418 DUSP6 ZFTA RAD50 PRKCD WDR19 TTC8 DHX37 THOC6 FKBP6 MYC CLDN4 BLM VPS37D FASLG MLXIPL MT-CYB MSX1 IDH2 CIDEC TMEM270 BBS4 BBS2 TRIM32 EIF2B3 TAC3 CEP19 MMP2 NDNF BBS10 HP_OVARIAN_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVARIAN_CYST PLIN1 PPARG GTF2I F7 GTF2IRD1 FLT1 PTEN NR5A1 CLIP2 POR ABHD11 FOS PHKA2 SRY ELN SOX3 LIPE SOX9 CYP11B1 ANTXR2 EIF4H DHH CAVIN1 LMNB2 LAT2 AGPAT2 STX1A CORIN NTHL1 STK11 PIK3CA CBX2 LMNA STOX1 ESR1 MSH3 BUD23 CYP19A1 SDHD METTL27 SETD2 TBL2 BSCL2 OFD1 CYP17A1 WT1 LIMK1 CLDN3 KLLN MMP14 BAZ1B SDHC AKT1 PHKG2 SDHB LHB ATM MAP3K1 SEC23B CYB5A ALMS1 PRLR SLC37A4 GNAS GTF2IRD2 CAV1 NR0B1 HNF1A DHX37 NCF1 PRKAR1A RFC2 FOXL2 FKBP6 INSR CLDN4 DNAJC30 AKT2 VPS37D DMRT1 MLXIPL MT-CYB MSX1 CIDEC TMEM270 USF3 BCL7B FSHR MMP2 HP_UTERINE_PROLAPSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UTERINE_PROLAPSE COL3A1 COL1A1 COL5A2 SMAD3 RPS6KA3 COL5A1 HP_ABNORMALITY_OF_THE_MENSTRUAL_CYCLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MENSTRUAL_CYCLE GNRH1 PPARG SIM1 GATA4 ITGA2B FOXL2 HDAC8 DUSP6 GP1BB HS6ST1 DNM1L F7 HERC2 FLI1 SEMA3A LMNA FMR1 NBEAL2 DHH TRMT10A CDKN2B KISS1 NUP107 FOS SOX3 GNAS GPR101 ANOS1 NR5A1 LIPE LEP F13A1 CYP11B1 ROBO1 LEPR PROKR2 FIP1L1 PRKACG CISD2 F11 CAVIN1 AKT1 MRPS22 HFE AGPAT2 BAP1 MSTO1 GP1BA SNRPN PRKAR1A NABP1 AIP FSHB CDKN1C LMAN1 GPR161 MCFD2 SYCE1 BLOC1S3 PIK3CA POF1B MSH5 NIN WDR11 TFR2 RARA FGF8 HPS4 PLAU CHD7 H6PD EIF2B5 WT1 ERCC8 KISS1R BCOR SRY NIPBL PSMC3IP AXL VAMP7 SOX10 DMRT3 SLFN14 PLIN1 FIGLA CCDC141 PDGFB CAV1 PHKG2 USP8 TACR3 CYP19A1 LARS2 RNF216 TP63 MAGEL2 MEN1 PLAG1 FGF17 NDN CYP17A1 ERCC6 WNT4 POLG CDH23 CYB5A GHR HESX1 TBL1XR1 ALMS1 LIG4 PRLR TWNK SLC37A4 ZMPSTE24 PROK2 HFM1 WWOX TRAF7 ATP7B GATA3 TKT EIF2B2 OCA2 DIAPH2 PEX6 FGG DHX37 RCBTB1 FOXA2 SOHLH1 FSHR LHX4 CLPP AKT2 GALT SUFU ITGA8 FEZF1 HARS2 GNRHR PSMD12 ANTXR1 NUMA1 PTPN11 PML IRF2BP2 STAG3 SERPINE1 AR PROP1 RAD21 PAPSS2 FGFR1 BMP15 NR3C1 SEMA3E F5 POLG2 WRN SRA1 WAS ERAL1 MCM8 HSD17B4 PHKA2 CDKN1B SMARCB1 POLR3H IL17RD SLC29A3 VWF IGF2 DCC ZFPM2 WNT7A SPRY4 HMGA2 CTDP1 ITGB3 F8 FLRT3 BMP2 ZBTB16 EIF2B1 SMCHD1 BNC1 F2 NF2 SMARCE1 BPTF C14orf39 ESR1 AGGF1 MCM9 BRD4 SETD2 NPM1 SNORD116-1 CPE PSMB8 NSMF BSCL2 SMO PEX1 GDF9 NOBOX TERT LHB NDNF FANCM FGA GLI2 WIPF1 HAMP PDE4D OTX2 SLC25A13 GP6 SOX9 PWRN1 SMC3 HPS5 BBS9 FGB STAT5B POU1F1 YARS1 SMC1A HSF2BP EIF2B4 F10 GP9 SPIDR STUB1 ESR2 MKRN3 PWAR1 BMPR1B HJV CDKN2C ARMC5 MYH9 POR MAP3K1 NR0B1 CDKN1A NPAP1 PCSK1 F13B CDON BLOC1S5 CIDEC TAC3 EIF2B3 STAT3 TBL1X SNORD115-1 HP_AMENORRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMENORRHEA GNRH1 PPARG SIM1 GATA4 FOXL2 HDAC8 DUSP6 HS6ST1 HERC2 SEMA3A LMNA DHH TRMT10A CDKN2B KISS1 NUP107 FOS SOX3 ANOS1 NR5A1 LEP ROBO1 LEPR PROKR2 CISD2 CAVIN1 AKT1 MRPS22 HFE AGPAT2 BAP1 MSTO1 SNRPN FSHB GPR161 SYCE1 AIP PIK3CA POF1B NIN WDR11 TFR2 FGF8 CHD7 EIF2B5 WT1 KISS1R SRY NIPBL PSMC3IP AXL VAMP7 SOX10 DMRT3 FIGLA CCDC141 PDGFB CAV1 TACR3 CYP19A1 LARS2 TP63 MAGEL2 MEN1 FGF17 NDN CYP17A1 ERCC6 WNT4 POLG CDH23 CYB5A HESX1 LIG4 PRLR TWNK PROK2 HFM1 WWOX TRAF7 GATA3 TKT EIF2B2 OCA2 DIAPH2 PEX6 DHX37 RCBTB1 FOXA2 SOHLH1 FSHR LHX4 CLPP GALT SUFU ITGA8 FEZF1 HARS2 GNRHR PSMD12 ANTXR1 STAG3 AR PROP1 RAD21 PAPSS2 FGFR1 BMP15 SEMA3E POLG2 WRN SRA1 ERAL1 MCM8 HSD17B4 CDKN1B SMARCB1 POLR3H IL17RD SLC29A3 DCC ZFPM2 WNT7A SPRY4 CTDP1 FLRT3 BMP2 EIF2B1 SMCHD1 BNC1 NF2 SMARCE1 BPTF C14orf39 ESR1 MCM9 BRD4 SNORD116-1 CPE NSMF BSCL2 SMO PEX1 GDF9 NOBOX TERT LHB NDNF GLI2 HAMP OTX2 SOX9 PWRN1 SMC3 POU1F1 YARS1 SMC1A HSF2BP EIF2B4 SPIDR ESR2 MKRN3 PWAR1 BMPR1B HJV CDKN2C POR MAP3K1 NR0B1 CDKN1A NPAP1 PCSK1 CDON TAC3 EIF2B3 TBL1X SNORD115-1 HP_ABNORMAL_VAGINA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VAGINA_MORPHOLOGY GATA4 HOXA13 SALL4 GATA3 MKKS LONP1 CYP11A1 BUB3 ARHGAP31 POLR1D BUB1B BUB1 CCNQ KIF7 ARL6 NAB2 POR DHH MTM1 WDR35 TBX3 DDB1 UBR1 SRY RSPO2 WT1 DYNC2LI1 TRAF3IP2 NR5A1 IL17RC ZFPM2 SOX9 DYNC2I1 BCOR WNT4 COL3A1 GLI3 TCOF1 SMAD3 IFT80 FREM1 ZEB2 COL7A1 CCDC28B PPP2R1A DHCR7 SLC35A2 FREM2 TP63 CYP11B1 FH POLR1B CHRM3 DYNC2I2 WNT3 VAMP7 DMRT3 RECQL4 CYP17A1 DACT1 DYNC2H1 KIF14 JAK3 HYLS1 FRAS1 CLEC7A GRIP1 PPP1R12A AR FGFR2 SALL1 STAT6 BBS1 CEP57 CYB5A PAX6 MNX1 COL4A6 WWOX INTU SRD5A2 SPINT2 IRF6 POLR1C DHX37 IL17RA CAPN15 MAP3K1 COL4A5 NR0B1 B3GLCT TRIP13 RELA IL17F ITGA8 RIPK4 IL10RB PAX3 TCTN3 MAMLD1 NR2F2 HP_DECREASED_FERTILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_FERTILITY RSPH3 CATSPER2 SIM1 GATA4 ARMC2 ERCC3 FOXL2 CFAP58 DUSP6 CFAP221 HS6ST1 DNAH1 ODAD2 HERC2 SEMA3A LMNA XRCC2 DNAAF1 DHH BTG4 RSPH1 NUP107 SOX3 DNAH9 PLCZ1 ANOS1 RAF1 OBSL1 NR5A1 FANCA PROKR2 DAZ2 SOX9 DAZ3 HFE CCNO SOHLH1 DHX37 CATSPER1 DNAJB13 CTNS SLX4 MAP2K1 GNRH1 SNRPN PTPN11 PPP2R3C STRC TLE6 DRC1 AIP APC2 TSGA10 CCDC40 FGF8 HSD17B3 DNAAF3 CHD7 H6PD WT1 ODAD1 CFTR SRY AXL VAMP7 SOX10 DMRT3 RFWD3 BLM ERCC4 DNAH10 SPEF2 FIGLA PMFBP1 CCDC141 DNAH8 PADI6 TACR3 TUBB8 CCDC39 RNF216 ADGRG2 MAGEL2 MEN1 SLC34A2 TSPY1 ZP2 WEE2 FGF17 BRAF NDN MEIOB CDH23 CYB5A CFAP43 ZP1 CFAP298 ALMS1 DNAH11 PRLR GNAS FCGR2A DNAH17 USP9Y WWOX CFAP300 TEX14 SRD5A2 DNAAF11 NANOS1 GAS8 OCA2 AR FANCC MRPS22 FOXA2 SUN5 TGFB1 UBE2T USP8 FSIP2 GALT HSD3B2 PROK2 RAD51 FEZF1 CDC14A HESX1 C14orf39 DZIP1 NME8 GTF2H5 GNRHR DNAH5 ODAD4 RPGR HYDIN QRICH2 TTC29 PROP1 PSMC3IP MAD2L2 PLIN1 FGFR1 FSHR CFAP44 HLA-DQB1 CYP11A1 MEI1 WDR11 SPAG17 NR3C1 SEMA3E RSPH4A WRN DDX3Y GBA2 DNAAF2 BRCA2 CFAP70 SLC26A8 SRA1 FANCE DMPK POLR3H IL17RD MCIDAS NSD1 DCC ZFPM2 DNAI2 DNAAF4 FANCI LHCGR TTC12 GCM2 SYCP2 SEPTIN12 FLRT3 DAZ1 CCDC8 BNC1 CCDC65 SPATA16 DNAAF6 FOXJ1 SETD2 SPAG1 FANCL CHRM3 TRIP13 ZMYND10 RBMY1A1 DNAI1 AK7 CYP19A1 NEK10 CEP19 BSCL2 SNORD116-1 CYP17A1 DNAL1 CLDN2 TEX11 GAS2L2 MPLKIP LHX4 FSHB SPRY4 FANCB C11orf80 NDNF GLI2 TBX3 MNS1 KLHL10 DNAH2 ODAD3 OTX2 CFAP251 PGR PATL2 RSPH9 PWRN1 AMH POU1F1 CFAP65 CATIP CCDC103 HSF2BP SPIDR STUB1 MKRN3 PWAR1 BMP15 CFAP47 FANCF M1AP HJV PNPLA6 HLA-DQA1 POR ACTL9 AGPAT2 MAP3K1 DNAAF5 NR0B1 NPAP1 ZP3 FANCG OFD1 DAZ4 CUL7 PANX1 AURKC BRCA1 BRIP1 FANCD2 AMHR2 REC114 LRRC56 SNORD115-1 FANCM CEP112 PALB2 STK36 BRDT RAD51C HP_VAGINAL_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VAGINAL_ATRESIA ITGA8 BBS1 FRAS1 GRIP1 GATA3 MKKS WNT3 RSPO2 POR FGFR2 DYNC2LI1 WT1 CCDC28B KIF14 ARL6 FREM2 HP_OVARIAN_GONADOBLASTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVARIAN_GONADOBLASTOMA GATA4 SOX9 WT1 MAP3K1 SRY NR5A1 NR0B1 VAMP7 DMRT3 ZFPM2 WWOX DHX37 HP_GONADOBLASTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GONADOBLASTOMA DHH GATA4 CDKN1C MAP3K1 NR0B1 IGF2 KCNQ1 SRY DHX37 SOX9 PAX6 WT1 NR5A1 VAMP7 DMRT3 KCNQ1OT1 ZFPM2 WWOX HP_APLASIA_OF_THE_UTERUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_UTERUS CYP11A1 CYP17A1 CPLX1 GATA3 WNT4 TOE1 MYRF CTBP1 TP63 DHX37 MINPP1 AR LETM1 RBM8A NSD2 WNT7A ARID1B PPP2R1A FGFRL1 HP_WIDE_MOUTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDE_MOUTH SMARCA2 PSPH ERLIN2 ZMIZ1 GPC4 GTF2I WDR73 KCNJ8 SH3PXD2B KCNH1 GTF2IRD1 GATAD2B AP4E1 SPEN PIK3CA DDB1 SF3B4 TRIP12 AP4S1 STRADA TRIO ADSL SNRPN KAT5 FAM20C CENPF ANKRD11 ACTB TCOF1 GALNS CHD2 AGA ATIC STAG1 ACTG1 UBE2A MGAT2 MBD5 PPM1D DPF2 TMCO1 NXN METTL27 SLC6A1 BRPF1 MAPK1 TBL2 ARID1B SEC23A NALCN SSR4 CUL4B SMARCB1 ZNF148 GLB1 CDC42 IRX5 HECW2 LARP7 PIGN MKS1 SLC12A2 KCNMA1 KCNK4 TMEM67 WDR4 ZNF699 ROR2 ZSWIM6 GPC3 IDUA MED12 AP4M1 MTOR TWIST2 MED13L NONO HDAC6 MED13 AFF3 NCF1 HUWE1 RAI1 RFC2 SYNGAP1 SMARCC2 DNAJC30 B3GLCT PIGL SALL1 NRXN1 SRCAP ALG9 SETBP1 SMARCD1 NEXMIF FLCN GNS BCL7B AUTS2 UBE3A TASP1 SETD1A SCN1A ARID1A ADNP TALDO1 ADAMTSL2 SOX4 ARID2 UBE3B TMEM70 POLR1D PIGB AP2M1 ATRX TTC37 CLIP2 SNIP1 ACTL6B PGAP1 ABHD11 AP1S2 SET ELN SMARCE1 WAC EIF4H OCA2 PACS1 LAT2 STX1A SOS1 PACS2 ATP6V1B2 NSUN2 ASXL3 POLR1B SMARCA4 SLC2A1 IFT140 MAP2K1 BUD23 KAT6A DPYD DACT1 LIMK1 CLDN3 HNRNPH2 TRRAP KDM6B PMM2 PIGY BAZ1B PTDSS1 AP4B1 TCF4 ABCC9 PIGU RNF2 LIG4 KDM3B DPYSL5 DHCR7 RALGAPA1 KATNB1 GTF2IRD2 KCNN3 OFD1 QRICH1 DDX11 ADAT3 POLR1C CD96 FKBP6 CDK19 INSR CLDN4 VPS37D ATP10A KLHL15 MLXIPL RPS6KA3 TMEM270 RNF113A ZMYND11 RAF1 SOX11 HS2ST1 NMNAT1 HP_ORAL_ULCER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORAL_ULCER SLC46A1 CAT STAT4 IL10RA FAS SRP54 DNAJC21 GFI1 UBAC2 NOD2 IL10 CYBC1 HLA-B IL23R RIPK1 IL12A IL7R ELANE EFL1 IRAK1 RELA SLC37A4 CD27 ERAP1 SBDS MEFV CCR1 SYK TCIRG1 KLRC4 TNFAIP3 CD40LG TLR4 DCLRE1C PTPRC SPP1 IL12A-AS1 C4A ADA2 MVK HP_ABNORMALITY_OF_THE_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_TONGUE LMNB1 FOXE1 PEX6 RTL1 GTF2I ALX3 CCDC47 GAA PTPN22 GJB6 DDX59 FOS GPR101 TCTN3 LMNB2 NTRK1 MCTP2 NOP56 C2CD3 CUBN SH3TC2 FAS ECM1 CAVIN1 SPTBN1 PLCB4 FXR1 FAM20C AGPAT2 TCTN1 MAN2B1 P4HA2 PEX3 AGA PEX10 GJB2 TBX22 PEX12 PIK3CA FREM2 TSHB AIP MGAT2 POU1F1 PLAGL1 PLXND1 GIPC1 MT-TE NXN CRPPA TBL2 GPC4 PTEN ATP6V1B2 DYNC2H1 PRKAG2 COL11A1 PQBP1 KLLN SNRPN CACNA1A PDGFB SDHC GRIP1 ENG FIG4 MKS1 TBX15 PEX16 BAP1 KCNMA1 NFIX SLC26A4 DVL1 LHX3 KIAA0753 VAC14 DNMT3B ZNF699 ROR2 MEG3 GPC3 ARSB DVL3 RPGRIP1L LMNA TMEM67 NCF1 POP1 BTK HYMAI SMN1 B9D1 INSR ATRX COL11A2 CLIC2 DNAJC30 GSN HNRNPK PIK3C2A NRXN1 PEX19 RIPK4 SETBP1 BCR PRRX1 BCL7B ZFP57 PPARG TXNDC15 ARID1A SLC39A4 VCP PAX8 RERE IYD POLR1D PIGB SLC5A5 TSHR WDR35 DMPK FUCA1 POMT2 FKRP ELN KDM5C RUNX2 EIF4H OCA2 COL2A1 HRAS GLI3 NEFL SRPX2 B9D2 NEK1 CDKN1C AFF4 UBE3A DHCR7 CSNK2B GMPPB MYH3 TBCD POLR1B IDUA ECEL1 EDN1 BUD23 MTX2 EDNRA UBA1 SGCG SDHD DLK1 PSMB8 CLDN3 BSCL2 SMO SCN9A MDM4 SOX9 KIF7 TMEM216 POMT1 KRT14 MYMK SYNGAP1 EXOSC3 KCNQ1 LARGE1 EHMT1 TBCK ALS2 ERLIN2 CPLANE1 LAMA2 ADPRS CC2D2A SMARCA4 PEX2 CEP120 RBM10 NKX2-1 KCNN3 IL36RN PANK2 MED13L SLC52A2 POLR1C KY PEX14 AMN KCNK9 TRMU KCNH1 NFASC SMN2 TPO VPS13B LIMS2 POMGNT1 REV3L FZD2 TMEM270 SLC6A19 PRRT2 SMARCB1 TUBB4A HS2ST1 CEP290 NDUFS4 FIBP TMEM231 GTF2IRD1 POU4F1 ASAH1 PEX1 SLC25A24 ABCC9 NKX2-5 HELLS OFD1 CHRNG RSPO2 PEX26 GNAI3 WDPCP KCNQ1OT1 HEXB GLB1 IDS AKT1 DYNC2I1 ACVRL1 TCOF1 TELO2 LHX4 SLC46A1 IFT80 WNT5A BMP4 SNX14 CSPP1 DYNC2I2 VPS13A ABCC8 FTO METTL27 LIFR RAB3GAP2 SCN1A FLNA INPP5E PROP1 MORC2 SLC25A21 CDCA7 FRG1 PEX5 HLA-DRB1 DUOX2 PIGS HESX1 PDE6D ZMPSTE24 TGDS INTU AGTPBP1 B2M TRAF7 LMBRD1 MMP1 AFF3 RFC2 TRIM37 KIF1A FAM149B1 IGF2 SUFU CRKL TAF1 ALG3 USF3 NEU1 CHUK ATP1A2 SNRPB ATP13A2 MED25 COG7 TMEM237 TMEM107 AMPD2 SLC35C1 PEX11B MTPAP RASGRP1 CLIP2 SNIP1 SERPING1 ABHD11 ACTB AIFM1 ALG8 MMACHC ELP1 ZBTB24 CASP10 RPGRIP1 FDX2 KRT5 THRA ADGRG1 LAT2 STX1A CCDC22 PIGW TG WNK1 NF2 SMARCE1 IFT140 SOX5 HLA-B MAPK1 RBBP8 IL6ST LIMK1 OPTN ALG6 FRAS1 BAZ1B TRAF3IP2 SDHB TERT OTX2 GNPTAB SLC52A3 GATA1 VPS33A SEC23B PERP PI4KA WNT10A POMK DUOXA2 VWA1 RALGAPA1 PEX13 GTF2IRD2 CHCHD10 CAV1 KCNJ11 CLTRN TSPYL1 PRKCD KRT6A RNF125 FKBP6 RETREG1 CLDN4 PTDSS1 COL7A1 VPS37D FASLG MLXIPL RAB3GAP1 TCTN2 MBTPS2 FAM111A FOXG1 RMND1 PTH1R PKP1 CUL4B TRPV3 KAT6B HP_MACROGLOSSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROGLOSSIA FIBP FOXE1 ERLIN2 GPC4 RTL1 GTF2I CCDC47 GTF2IRD1 GAA PTEN PEX1 DNMT3B ABCC9 NKX2-5 ROR2 HELLS FOS GPR101 PAX8 KCNQ1OT1 HEXB GLB1 IDS CAVIN1 AGPAT2 MAN2B1 LHX4 FKRP TBCK AGA SNX14 TSHB AIP POU1F1 ABCC8 PLAGL1 FTO MT-TE CRPPA METTL27 TBL2 ATP6V1B2 PRKAG2 PQBP1 KLLN PIK3CA SNRPN SDHC INPP5E PROP1 CDCA7 KCNMA1 SLC26A4 DVL1 LHX3 DUOX2 PIGS HESX1 MEG3 GPC3 ARSB POMT1 MED13L NCF1 POP1 RFC2 HYMAI WNT5A INSR ATRX DNAJC30 IGF2 HNRNPK PIK3C2A SETBP1 ALG3 USF3 BCL7B ZFP57 PPARG ARID1A AMPD2 IYD SLC5A5 CLIP2 SNIP1 ABHD11 TSHR ACTB FUCA1 POMT2 ALG8 EHMT1 ZBTB24 ELN FDX2 THRA EIF4H LAT2 HRAS STX1A PIGW CDKN1C TG AFF4 IDUA IFT140 BUD23 SGCG SDHD IL6ST DLK1 PSMB8 LIMK1 CLDN3 BSCL2 ALG6 BAZ1B TRAF3IP2 SDHB GNPTAB KCNQ1 GATA1 VPS33A UBE3A SEC23B LAMA2 POMK SMARCA4 DUOXA2 LARGE1 NKX2-1 GTF2IRD2 KCNN3 CAV1 KCNJ11 RNF125 GMPPB FKBP6 CLDN4 TRMU KCNH1 VPS37D MLXIPL TPO LIMS2 POMGNT1 TMEM270 AKT1 FOXG1 SMARCB1 HS2ST1 CUL4B HP_ABNORMAL_LIP_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LIP_MORPHOLOGY RNU4ATAC TRPS1 CCDC32 SATB1 COLEC10 NUP107 EIF2S3 DPM1 VPS51 KANSL1 ABHD5 NDP WDFY3 MBTPS2 SMAD4 MRPS28 TSPAN7 PHC1 CENPJ DCPS SMOC1 KAT5 METTL5 IER3IP1 ADAM22 PYCR2 ANKRD11 CBL SPEN XYLT2 MAP1B SIX3 KREMEN1 ZEB2 NEXMIF SIN3A SOS2 ZSWIM6 FLNB CSGALNACT1 NXN EDARADD FGF8 KCNMA1 SOS1 KDF1 MAP2K2 CHST14 MIR140 SREBF1 TMEM70 RAC3 ENG HUWE1 PIGN FIG4 COL11A1 NRAS KCNJ2 DIS3L2 CDON GLI2 PRKCZ MSX1 SYP TRAPPC14 DLG3 RSPRY1 VAC14 HNRNPU MEG3 CDT1 DOCK7 MED12 EHMT1 MAPK8IP3 EXT2 PQBP1 CTNNB1 GLIS3 LMNA EXT1 MED13 AP1S2 NCF1 ATP7A CREBBP CERT1 FOXL2 ATRX AP2M1 ZIC2 HNRNPK UGDH SETBP1 B3GALT6 GNS NF1 PTCH1 CHN1 NAA10 CHUK CNKSR2 JARID2 TBL1XR1 ARID2 RERE PDE4D ZMIZ1 SLC2A10 C12orf57 COG1 FAT4 FBXL4 WDR35 DMPK PGAP2 IRF6 FUCA1 GDF11 SRCAP ELN ARID1B RPS6KA3 NODAL SIX1 IL17RC GLI1 EIF4H ABCA12 PACS1 NEB SMARCA2 CDH11 TOR1A MED27 IDUA BRD4 RAI1 HIRA DLK1 CDK5RAP2 PPP1CB CLDN3 HNRNPH2 ATN1 DDRGK1 NECTIN1 TBX1 PTDSS1 LHX4 SETD5 FAR1 SHH HSPG2 SLC26A2 TCF4 SMG9 ERLIN2 FERMT1 FKTN DISP1 RALA CASK SATB2 USP9X NDN PWAR1 QRICH1 ADAT3 ATP6V1E1 ARHGEF2 POLR1C AP4M1 TOE1 VPS13B NEK9 RTL1 EIF5A TMEM270 EDA NFIA TGIF1 RAF1 SMPD4 KIF11 RIT1 SLC25A24 ABCC9 RAB3GAP2 BCOR NFIX IDS ZNF81 GLI3 PTEN TCOF1 FGD1 ATP6V0A2 TBCK PERP MID1 TP63 HPDL TRAF6 FGFR1 SNAI2 IFT43 PAK3 MBD5 MASP1 METTL27 PIGL SEC23A CYB5R3 TRAPPC9 CKAP2L NALCN KIF7 CUL4B GLA MUSK PPP1R12A HS2ST1 DEAF1 ZC4H2 CWC27 UBE3B PUS7 SASS6 P4HTM PIGS SLC39A4 SPECC1L TFAP2A WDR19 GJA1 ADAM17 RLIM KDM4B RFC2 AP3B1 ALG1 PIGW B3GLCT HS6ST2 CYB5A IL17F CRKL FOXP1 FMR1 IFT122 OCA2 CPLANE1 ORC6 INPPL1 DDX6 PIGG TGFB3 COG7 DHX37 SLC35C1 SHOC2 ARHGEF6 CLIP2 EVC AP3D1 KCNE5 EFTUD2 SCUBE3 OPHN1 PIGT LETM1 MFSD2A SMARCE1 BDNF COL3A1 IFIH1 PAX6 LARP7 PEX26 TRIP12 EP300 MOCS2 EGFR SLC35A2 DNMT3A SMARCA4 PREPL LAS1L EXOC2 SMC1A MAPK1 KAT6A OFD1 FAM20C DPYSL5 SUZ12 CLCF1 KNL1 BMP2 ALG9 IL1RAPL1 DDX59 KCNN3 SMC3 KIF1A LZTR1 GALNT2 NAGA TAPT1 GP1BB ESCO2 GNE KRT6A RPL10 BRAT1 DYNC2H1 CIT GRHL3 BLM PRKDC MECP2 HRAS MAPRE2 PLOD3 GPC6 PPP2R3C RET AP4S1 LARGE1 TCTN2 LMNB1 KMT2E EXOSC1 HMGA2 GTF2I BUB1B KCNJ8 KCNH1 KRAS ALX3 KRT6B INTS1 SLC45A1 AMMECR1 AP4E1 MEF2C EXOSC2 SPOP DDB1 BPTF MCTP2 MED25 PAX9 SPTBN1 TXNL4A FZD2 FRMPD4 CDH1 ATIC PTCHD1 FREM2 MGAT2 PPM1D CHAMP1 GPC4 FBXO11 EDAR TUBB ATP1A2 PTPN23 SMS SMARCC2 MADD UNC80 ADNP DVL3 RPGRIP1L FOXA2 ZBTB18 DNAJC30 DYRK1A GMNN PROKR2 CCDC8 BCORL1 SUMF1 FBN1 CDH2 ATP6V1A PSMD12 CHD7 ANTXR1 DMD MCM5 AGO2 CLCN6 SEC24C SLC9A7 FOXH1 POLR1D CAMK2G RPS23 INTU SOX11 PURA ORC1 ACTG1 WASF1 RAB39B SET DENND5A ALG13 STAG2 SLC35A1 PSMC3 BRAF HESX1 DHCR7 UBE4B CSNK2B CEP63 MAGEL2 SCARF2 PIEZO2 TCF20 MYOD1 PUS1 IQSEC2 KAT8 PHF8 PLAA GNA14 TPM3 RAPSN ORC4 MYH3 ZNF462 WNT3 KATNB1 ALX4 ERCC1 TBC1D20 WAC TBR1 TBC1D24 ZNF292 CLTC XRCC4 ARVCF TGM1 KCNK9 TAF6 KNSTRN NCAPD3 PRDX1 DLL1 TRAPPC4 DSC3 FIBP CNOT3 DLX4 MAFB CCNQ GTF2IRD1 MYCN ZNHIT3 SLC6A17 NTNG1 TRIO FLII GATA4 RSPO2 TWIST2 TENM3 TRMT10A RAB3GAP1 DYNC2I1 SLC12A2 WNT5A PITX2 COL11A2 MEOX1 DYNC2I2 PSAT1 PLG PIGY GAS1 FLT4 ACSL4 SHMT2 TMCO1 FLNA XYLT1 KARS1 DLL3 FRMD4A SETD1B AMER1 PCLO PPP1R15B ALDH6A1 CC2D2A ADAMTS3 HK1 DSE TGDS NONO HDAC6 YY1 HDAC8 IL17RA PDGFRB MSL3 APC PAH SMARCD1 SUMO1 FLCN LRP4 POGZ SOX4 NLRP1 FGFR2 COLEC11 SEMA3E FOXC1 PIK3CD COPB2 DPM2 NIPAL4 CRLF1 LAT2 NBN MINPP1 TNNI2 TUBGCP2 TSPEAR KLHL41 POMT2 ALG11 LIMK1 FRAS1 BCL11B TAB2 MESD DPF2 RNF2 CCBE1 ADAMTS2 AVP PUF60 TRIP11 SNRPN NOG KIT EXOC7 LTBP4 EXOC6B NEU1 ZFPM2 FLI1 ALG12 ALOXE3 JUP RPS19 CACNA1A VPS35L NSD1 CDK19 INSR RASA2 NPAP1 HCFC1 GABRD SNORD115-1 GBA ERCC2 A2ML1 SH3PXD2B SUFU HERC2 GATAD2B ANGPT1 METTL23 TAF13 TNRC6B WNT10A TDGF1 OBSL1 KMT2C RIPK4 PPP2R5D ABCC8 STRADA RHOBTB2 GATA5 AGA CDK13 SC5D NKX2-5 EZH2 PLXND1 SLC6A1 ATP6V1B2 CRTAP SLC25A46 EYA1 GRIP1 CTBP1 CAST NOTCH3 MKS1 ACTB OTUD6B STXBP1 NANS ZNF699 CTCF ROR2 GPC3 PHIP MTOR FKRP YARS2 ZDHHC9 KIF15 CLIC2 BRCA1 RRAS2 CLP1 DHODH CD96 UBE2A BCL7B GREB1L CNOT1 SCN1A FTSJ1 ARID1A ZNF711 CACNA1C EPB41L1 MID2 PPP1R21 B3GAT3 SCYL2 ACER3 COMT PIGB DVL1 GDF1 CDK10 TBCE LMX1B RAB18 GLUL MPC1 KIDINS220 USP27X CITED2 PACS2 NEK1 SVBP MSX2 RRAS LIG4 TMEM94 AFF4 TANC2 POLR1B BUD23 ATG7 SNORD116-1 PSMB8 CYFIP2 PMM2 IGF1R SYNGAP1 PHGDH POLR3GL MAP2K1 CAMTA1 PWRN1 KDM5B AUTS2 PIGO ERMARD MAB21L1 MKRN3 DOCK3 EXTL3 CLCN4 KIFBP AMN JAG1 PAX3 EDEM3 PGAP3 PDPN LTBP3 SIM1 IREB2 RIPPLY2 POR HYLS1 DYNC2LI1 PHF21A KMT2A CHRNG ZNF41 OCLN KNG1 EMC1 RTTN ITCH ADSL KDM1A PPP2CA YAP1 MESP2 HOXB1 SLC46A1 CHST3 NELFA CPLX1 CHD2 IFT80 PRKACA FOXC2 RNF135 EEF1A2 SMO CDC6 MAP3K7 HECW2 FOXG1 RAD21 CEP152 ZBTB20 EPG5 SON CDKL5 ERCC6 ASPM RPS7 CDC42 LUZP1 KCNJ6 DPYD ACTL6A DCHS1 KCNJ5 TAF1 PIGQ ATP1A3 IL1RN CCNK TET3 OGT NOTCH2 KRT17 RAB11B ZPR1 PRKACB ALOX12B RPL5 COX7B ABHD11 ABCD1 MMACHC KDM6A IL1B ACTA1 SYT1 LMBRD1 CEP135 WDR26 STX1A CTNND1 CCDC22 MRAS PAFAH1B1 FREM1 SNRPB HES7 SLC2A1 MYO18B MYH8 CHSY1 NKAP ASXL1 ANKRD17 SALL4 FGF3 STEEP1 RIN2 GNPTAB VPS33A UFD1 MAF POMT1 IFT57 VAX1 GTF2IRD2 TMEM237 VPS37D BRF1 EDA2R TCTN3 EED SNX14 PTH1R PKP1 IARS2 GNB2 LFNG MAN1B1 HOXD13 ANKLE2 GPR101 MMP23B SF3B4 CUBN UBR7 ECM1 DHX30 CYP26C1 AGL WDR37 KIAA0753 ARX AIP GRIA4 MGP SOX18 DDX3X ACTL6B TBL2 MCPH1 PYCR1 NKX2-6 MEIS2 KCNJ11 CLEC7A ERF RYR1 KCNK4 WNT4 WDR4 FGFRL1 HS3ST6 MED12L RUNX2 PDHA1 MYLPF PPP2R1A BCR KIF14 OCRL HIC1 TASP1 SETD1A WDR62 EVC2 TALDO1 BRCC3 PTPN11 TGFA JMJD1C LRRC32 CNTNAP1 EFNB1 GDI1 NOVA2 SLC29A3 TRAF3IP2 KDM5C NIPBL KMT2D CUL7 NSDHL ZBTB16 PROP1 PBX1 SEC31A FHL1 IFT52 SULT2B1 PORCN STIL CANT1 COL2A1 EDNRA ITGA8 TFAP2B MYOF AASS ADAMTSL1 PIGK PTCH2 MDH1 AP4B1 MYMK PIGU AXIN2 UPF3B LIPN POU1F1 ALG8 LEMD3 STK11 MED13L SLC1A3 WNT10B CYP4F22 GJA5 PAM16 AFF2 RREB1 REV3L TRMT1 CSNK2A1 FBXW11 RBMX CILK1 NSD2 GAD1 MYT1L LRP6 ARHGAP31 PIK3CA WT1 SDR9C7 PIGV PTPRF HGSNAT GLB1 ACVRL1 AGTR2 ADARB1 WARS2 CNOT2 PARS2 BRPF1 NUAK2 SSR4 CDK6 SMARCB1 ZNF148 IRX5 HDAC4 GRIA3 TWIST1 TTI2 FGF20 SHANK3 PKDCC NFIB YWHAE ZMPSTE24 MARS2 KAT6B AFF3 MOCS1 POMGNT1 PRMT7 LEMD2 PALS1 ADAMTSL2 AMPD2 MCOLN1 TTC37 PCGF2 CYP24A1 BMP1 NCAPG2 KCNAB2 ASXL3 MLXIPL BCL11A NBAS SKI NSUN2 CDC45 TRRAP KDM6B MTX2 BAZ1B ODC1 HSD17B4 COG6 POLR3A UGP2 ADGRG6 EBF3 KDM3B GATA6 OTX2 CASZ1 PRDM16 NTNG2 PTRH2 LBR ERCC5 THOC6 FKBP6 SRD5A3 CLDN4 HTT KRT16 SMG8 IFT81 RIC1 HP_NARROW_MOUTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_MOUTH MYT1L RPL10 KMT2E ZMIZ1 CCDC32 PIGA SATB2 GNB2 FAT4 PQBP1 POLR3A POR AMMECR1 RTL1 SLC25A24 MYBPC1 APC BBS7 NTNG1 MMP23B CAMTA1 BPTF RSPO2 WDFY3 SMAD4 GNAI3 TRMT10A NFIX RTTN DCPS RAB3GAP1 PLCB4 EDN1 FAM20C TXNL4A TCOF1 SPEN TNNT3 CHST3 SLC12A2 ATAD3A CDK13 SIN3A MYH3 GRIA4 B4GALT7 WNT3 TP63 ACTL6B BRPF1 FREM2 KCNMA1 SEMA3E RECQL4 ALDH18A1 MDM2 CHST14 FBXO11 MUSK FLNA KARS1 HUWE1 COL11A1 HS2ST1 PPP1R15B COG1 CDC6 TWIST1 PHACTR1 RERE PRKCZ UBE3B ZBTB20 PUS7 PTPN23 SMS MAF PTEN TUBB HSPG2 UBR7 MMP1 NALCN PIGF MADD STXBP1 PIGN PIK3CA CTCF MEG3 ZMPSTE24 CDT1 ADAMTS3 MAPK8IP3 PRRX1 LMNA LUZP1 DSE GJA1 SOX6 MED12L RLIM OSGEP ATP6V0A2 ACTL6A HPDL MED12 TTN ORC1 COL2A1 COL3A1 GMNN MYLPF BCORL1 CRKL KDM4B FBN1 YWHAE BCR PSMD12 CHD7 FGFR2 ORC6 MCM5 TNNI2 AGO2 AUTS2 SEPTIN9 POGZ COG7 LTBP3 LEMD2 PALS1 JARID2 SPEG SEC24C PIK3R2 SCN1A B3GAT3 POLR1D SCYL2 COMT DONSON MAPRE2 JMJD1C ITGA3 DCHS1 TTC37 TLK2 WASF1 PTCH1 SH2B1 CDC45 PCGF2 CHSY1 ORC4 GSC TRMT5 DLK1 AKT3 NOTCH2 POLD1 RYR1 TPM2 LMX1B CCBE1 ZBTB16 CRLF1 CENPT KCNAB2 SON TRIP12 NONO SVBP TANC2 MED27 UBE4B POLR1B CANT1 EIF4A3 BPNT2 KAT6A RIPK4 CNOT3 MAPK1 NEB HIRA PIEZO2 TCF20 SKI MTX2 BCL11B TBX1 KAT8 IGF1R DPYSL5 HIVEP2 RNF2 SYNGAP1 OTX2 TBX4 CLCF1 DHCR24 BMP2 DDX6 CREBBP UFD1 MED13 CASZ1 PRDM16 BIN1 NTNG2 MECP2 AKT1 SP7 GP1BB DOCK3 PAFAH1B1 EXTL3 BMPR1A POLR1C CCND2 TBC1D20 CHRNG ARVCF COL7A1 TAF6 HTT IARS2 COL11A2 TNRC6B RREB1 CEP57 TRMT1 EP300 TRAPPC4 NFIA SATB1 TRIP4 FBXW11 GABRD PDPN PAX3 GBA HP_MEDIAN_CLEFT_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEDIAN_CLEFT_LIP DLL1 SHH FOXH1 SIX3 TDGF1 STAG2 CDON SMC1A ALX3 INTU PTCH1 DVL1 FGFR1 ZIC2 DDX59 GLI2 OFD1 STIL GAS1 SLC2A10 FGF8 NODAL PROP1 DISP1 NEK1 HESX1 WNT5A SMO RIPK4 FAM20C GJA1 NUAK2 HYLS1 LHX4 PIGN DVL3 OTX2 ZSWIM6 POU1F1 TGIF1 FOXA2 FZD2 TCTN3 HP_GLOSSOPTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLOSSOPTOSIS PLCB4 EDN1 COL2A1 SOX9 FLNA POLR1C TCOF1 FIG4 POLR1D BTK MYMK GNAI3 COL11A2 AFF4 NFASC SNRPB POLR1B NFIX EDNRA RSPO2 VAC14 RBM10 PEX16 RUNX2 COL11A1 TGDS HP_ABNORMALITY_OF_THE_DENTITION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_DENTITION TRPS1 COL1A1 CCDC32 NRAS SATB1 PIGA LEMD3 TENT5A CCDC47 FAT4 CACNA1A SEMA3A TPM3 ERCC8 EIF2S3 KMT2D VPS51 ADGRV1 KANSL1 KISS1 LAMB3 H19 NTRK1 WDFY3 MBTPS2 TSPAN7 ANKH ANKRD11 AIMP2 MAP2K1 STX16 SIX3 KREMEN1 ZEB2 GJB2 CTSK SIN3A ZSWIM6 FLNB FAM111A FGF8 EYA1 LRP6 NXN EDARADD LMNA KCNMA1 GABRB2 KDF1 POLR3B NTRK2 PLEC SNRPN HACD1 TRAK1 HUWE1 SRP54 FIG4 TP63 ITGB4 KCNJ2 CDON GLI2 TACR3 C1R SLC13A5 CYP27B1 MSX1 PAX9 PARN SYP DLG3 RSPRY1 CDH3 VAC14 DOCK7 MED12 AHCY EHMT1 STAT3 CFAP418 MAPK8IP3 ERCC2 PQBP1 EXT1 PTCH1 NCF1 CREBBP CERT1 INSR ATRX SUFU ITGB6 DSP ALPL ATP6V1B2 UROD HNRNPK DPH1 PROK2 SETBP1 AEBP1 SMARCA2 NF1 UBA5 CNKSR2 JARID2 ENAM TBL1XR1 DNM1 ARID2 SNAP29 ALKBH8 ORAI1 SLC35C1 KRT14 PDE4D MAPRE2 ZMIZ1 DCHS1 COL17A1 CEP152 PGAP1 PLG IRF6 SH3BP2 SIN3B ARHGAP29 ELN ARID1B RPS6KA3 NODAL IL17RC TCIRG1 GLI1 EIF4H TTC7A SPRY4 PACS1 CDH11 CYFIP2 ATR LYST MED27 CA2 FLNA FGFR1 BRD4 AARS1 MTX2 SCN3A RAI1 HIRA PPP1CB ABCA5 CLDN3 NECTIN1 TBX1 PTDSS1 SETD5 FGFR2 TBX4 SHH TBCD POLR1C TCF4 WWOX KAT6B FERMT1 ZMPSTE24 NUP133 ADAMTS10 NAA10 DISP1 DSPP SATB2 KCNN3 USP9X STAG1 DCAF17 PWAR1 CNNM4 COG6 ADAT3 ATP6V1E1 FGF10 PPP3CA SEC24D CLDN1 FAM83H VPS13B CAV1 FGFR3 TMEM270 EDA SLC29A3 DPP6 TGIF1 NMNAT1 UBR1 HS6ST1 ALDH3A2 SLC25A24 ATRIP BCOR GNAI3 IDS MYL2 ZNF81 GLI3 ZIC2 NSDHL TCOF1 FGD1 ATP6V0A2 TBCE DSG4 TRAF6 PRKAR1A IFT43 PAK3 MBD5 MASP1 RNF113A METTL27 CBS SOX10 BLM PIGL CLDN19 SEC23A CLCN7 CKAP2L CUL4B HS2ST1 PPP1R15B HCN1 MAP3K7 UBE3B PUS7 CAT PTEN SLC10A7 PIGS XPA SPECC1L SLC37A4 TFAP2A POLR3A WDR19 GJA1 RLIM MMP1 IKBKG HOXD13 DNAJC21 RFC2 AP3B1 TRIM37 LAGE3 AIRE B3GLCT CTSC FGF13 IL17F KCNA2 DDB2 CTNND1 WNT10A IFT122 FN1 PIGG LAMC2 DHX37 DLX3 ZNF341 SHOC2 KCNB1 ARHGEF6 CLIP2 EVC KCNE5 SCUBE3 ELANE PIGT LETM1 SMARCE1 KRT86 COL3A1 IFIH1 VDR TRIP12 EP300 SLC35A2 NFIX CACNA1B DNMT3A SMARCA4 PEX1 SOX5 SMC1A RBBP8 OFD1 ERCC6 DHDDS DPYSL5 NDNF HLA-DRB1 DDX6 IL1RAPL1 SYNGAP1 SMC3 FGF12 SOX4 SP7 GP1BB SKI RPL10 COL11A1 GRHL3 COL7A1 NUS1 DLG1 TWIST1 MAP3K20 PCNT NARS1 SZT2 HBB PPP2R3C WDR35 KRT6A GNRH1 KMT2E HMGA2 GTF2I ALX3 KRT6B ARL6 AMMECR1 DDX59 TERT EBP SYNJ1 MCTP2 C2CD3 ZNF469 SGMS2 EDAR BANF1 FRMPD4 CDH1 DMP1 PTCHD1 FREM2 MGAT2 PRKD1 CLTC SFRP4 GPC4 MSX2 LTBP3 GNAS GABRA2 OTUD5 CCDC141 MIA3 GUSB BPTF PYROXD1 PTPN23 SMS HSPG2 WDR4 DKC1 BBS4 PDZD7 ADNP DVL3 LBR LOX HPDL SMARCC2 DNAJC30 GDF5 BCORL1 ATP6V1A PSMD12 ACTL6B TP53RK CHD7 ANTXR1 ROGDI DMD AGO2 C1S POC1A SEC24C FOXH1 POLR1D RPS23 ANAPC1 AXIN2 PURA ORC1 ERCC1 EVC2 WASF1 RAB39B LAMA3 SET TNFSF11 RUNX2 ALG13 MECP2 SOS1 FGF23 PEX6 DHCR7 RUSC2 FBN1 PLK4 SCARF2 TCF20 NSMF MYOD1 LGI4 IQSEC2 KRT5 MYSM1 KAT8 UBE3A GTF2E2 MYH3 CEP120 KATNB1 ALX4 ARVCF KCNK9 TAF6 KCNH1 GREM2 ACP4 FEZF1 COX7B DLL1 P4HB FZD2 TRAPPC4 TAC3 MADD LONP1 DLX4 GFI1 GTF2IRD1 KIF7 SPEN RBM28 NTNG1 TRIO FLII TBX3 ELMO2 TERC TRMT10A IFITM5 LMX1B EDN1 SLC12A2 NDUFB11 WNT5A CCDC28B GABRG2 MYO7A PITX2 TPRKB GAS1 PTH1R ACSL4 SNX10 XYLT1 DUSP6 STAG2 RNF13 FGF17 TMCO1 AMER1 GATA1 NOP10 ADAMTS3 HK1 SOBP MED13L GRHL2 NONO COL5A1 YY1 HDAC8 AGXT IL17RA APC EFL1 GJB6 SMARCD1 FLCN LRP4 WHRN C12orf57 AP3B2 AMELX LIFR SMOC1 RDH11 SMARCD2 FOXC1 ESPN GNRHR NIPAL4 DYNC2LI1 TMEM231 ITGA6 COX4I2 MAN2B1 LAT2 HSPA9 ROR2 TUBGCP2 KISS1R IFT140 TSPEAR LIMK1 FRAS1 BCL11B PRDM5 TAB2 CHD3 MESD DPF2 RNF2 CCBE1 MMP20 ADAMTS2 COL1A2 LIG4 FAM20A USB1 ODAPH SMAD3 CDK19 NPAP1 NPHS1 HCFC1 IL17RD KCNQ1OT1 ACD SNORD115-1 TONSL SH3PXD2B HERC2 TRIP11 TGFB1 RAB23 ANOS1 TDGF1 OBSL1 BRAF GALNT3 TNFRSF11B CHRNE TGM1 TECPR2 PLXND1 TNFRSF11A WDR72 AKT1 CREB3L1 GRIP1 CTBP1 NOTCH3 MKS1 SLC1A2 NDN NALCN KRT83 ITGB2 CTCF GPC3 PHEX ZDHHC9 POP1 ERCC4 KIF15 BRCA1 PIK3C2A PPIB BCL7B CEP85L ZNF711 CACNA1C MID2 RECQL4 B3GAT3 COMT RAB3GAP2 DVL1 SUOX MPLKIP PTCH2 KRT17 CHSY1 CDK10 NSD1 HEPHL1 RSPO1 KIDINS220 FLRT3 USP27X SVBP TANC2 NHS TINF2 MMP13 POLR1B SUMO1 TARS1 BUD23 HRAS KAT6A PLEKHM1 SNORD116-1 SLC39A13 EEF1A2 SIX1 STXBP1 CCN2 POLR3GL CAMTA1 TMEM165 PWRN1 GFPT1 MKRN3 DOCK3 CLCN4 GRIN2D LMNB1 LRP5 TWIST2 GHR SMARCB1 CXCR4 KMT2C HMGB3 BMP2 DEAF1 ALOXE3 SERPINH1 ZNF41 BMP4 PROKR2 KDM1A ABL1 CHST3 NELFA PRKACA POF1B GORAB NFKBIA SBDS FTSJ1 B4GALT7 MAPK1 PEPD CELF2 PAX1 ACP5 TRAIP NEK1 ERCC3 PAPPA2 CDC42 DPYD ACTL6A ARV1 XPC FUCA1 KCNJ5 FKBP10 NOTCH2 ARID1A IL11RA PLCB4 PRKACB HCCS SMARCAL1 THOC6 ABHD11 CDH23 KDM6A NHP2 PCDH15 ACOX1 ALOX12B DCC POLD1 CTDP1 WDR26 STX1A ACVR1 DDR2 GABRA5 CCDC8 NEPRO SNRPB PCYT1A CCR6 KIF1C IL6ST KRAS WDR73 WNT10B FGF3 STEEP1 RIN2 ALMS1 SCN8A UFD1 MED13 SLC24A4 WDR11 MAF YWHAG ENPP1 IFT57 IGF1 WRAP53 UROS SELENON GTF2IRD2 DYRK1A SOST IDUA VPS37D BRF1 CSTB RMRP RAB3GAP1 EDA2R KCTD1 AMBN USH1G ABCA12 PDGFRB SNX14 STIM1 PKP1 TRPV3 B3GALT6 GPR68 GNB2 GPR101 NGF SLC9A7 SMCHD1 ANTXR2 USH2A FAM20C GALNS KIAA0753 EFNB1 OCRL ARX AIP GRIA4 CENPE TBL2 SHANK3 CLEC7A NKX2-1 LARP7 UBR7 PORCN BBS1 SSR4 FARS2 FGFRL1 DPM2 CPLX1 TPM2 OSGEP KDM4B SRCAP RIPK4 HESX1 COL5A2 MMP2 GTF2H5 SETD1A IFT52 RAD21 ITGA7 CYP2R1 HLA-DQB1 TGFA JMJD1C ERCC5 GDI1 NECTIN4 TRAF3IP2 KDM5C NIPBL OCA2 IRF5 NUP107 NSUN2 SETD2 SULT2B1 PARS2 STIL EDNRA SMOC2 CNOT3 PLOD1 TFAP2B ADAMTSL1 PIGK TBC1D24 PIK3R1 KMT2A XRCC4 UPF3B LIPN PUF60 IGF2 CYP4F22 CTC1 AGA CUL7 RREB1 REV3L TRMT1 FBXW11 SOX11 CILK1 NSD2 MYT1L SDR9C7 PTHLH RELT POLR2A DHODH PTPN11 AGTR2 APC2 POLR3K EMC10 NECAP1 GATAD2B CNOT2 SEMA3E COL2A1 GLB1 IRX5 ACTA1 GRIA3 TTI2 USH1C PIGF RHOA INTU ASPH AFF3 NPM1 MAGEL2 GTPBP2 CYP27A1 LEMD2 PALS1 KDELR2 MCOLN1 SOX18 PCGF2 THRA CNOT1 SON ASXL3 DSE MLXIPL EIF4A3 KDM6B BAZ1B KRT81 PERP RTEL1 SPART TSC1 KLK4 NTNG2 JUP CENPJ MEIS2 CIB2 HLA-DQA1 FKBP6 CRLF1 CLDN4 HTT DALRD3 TNRC6B AMTN KRT16 SMG8 RIC1 HP_ABNORMALITY_OF_THE_GINGIVA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_GINGIVA NXN C1R LMNB1 ITGA2B GTF2I PIGA GP1BB MYD88 GFI1 SH3PXD2B F7 TBC1D2B GTF2IRD1 HYLS1 ABCC9 ZNHIT3 TERT CDKN2B ROR2 SC5D ELMO2 TERC NGF SMAD4 F13A1 EMC1 NTRK1 CTSC GLB1 ANTXR2 ECM1 FIP1L1 DHCR24 IDS SERPINF2 IER3IP1 HPS1 NHP2 FAM20C AIMP2 GP1BA MAP1B TBCK ZEB2 NABP1 LMAN1 WNT5A TSC2 MCFD2 BLOC1S3 GORAB MGAT2 SBDS RARA PRF1 FERMT1 B4GALT7 PLAGL1 JAK2 NCF2 LBR BCOR METTL27 NFIX TBL2 ATP6V1B2 CYBB KIF7 WDR26 SRP54 FIG4 MIA3 GUSB MPL KCNMA1 ABCA5 TMCO1 PARN KCNK4 CAT NOTCH3 DVL1 DKC1 IFNG NOP10 FGA TBL1XR1 ITGB2 PIGS PIGN VAC14 ALMS1 PLEKHM1 SLC37A4 DVL3 WAS ADAMTS3 REST AFF3 NCF1 CYBC1 TINF2 RFC2 FGG AP3B1 HYMAI INSR KIF23 F8 NCF4 COL3A1 DNAJC30 PDGFRB NPM1 SETBP1 AEBP1 MMP2 PRMT7 NEU1 CD96 SCARB2 TCIRG1 BCL7B NUMA1 CD40LG OCRL FCGR2C PML IRF2BP2 C1S SAMD9 GNPTAB SLC35C1 FGFR2 F5 GBA CLIP2 DSP FAT4 RMRP CNTNAP1 ABHD11 TET2 PLG FGB SLC17A5 CDKN1B KLLN ELANE ELN SLC29A3 FAM20A KCNH1 NOTCH2 EIF4H CCBE1 MAN2B1 RIN2 LAT2 STX1A ZBTB16 DDR2 ASXL3 ITGB3 LYST BUD23 OSTM1 ATG7 LIMK1 CLDN3 CYBA TBC1D24 BAZ1B MYSM1 MMP14 FGF3 STAT3 F2 ADAMTS2 WIPF1 PERP RTEL1 TSC1 KCNN3 KIF1A WRAP53 DHCR7 STAT5B RALGAPA1 USB1 USP9X KCNJ6 GTF2IRD2 F10 GP9 CLTRN EXTL3 PRKAR1A SOS1 KRT6A CDKN2C FKBP6 GNAQ MEN1 CTC1 CLDN4 CDKN1A AGA IDUA VPS37D MLXIPL F13B VPS13B MBTPS2 FZD2 IL18BP BLOC1S5 TMEM270 TCTN3 SLC6A19 IRF9 CXCR4 TRPV3 HP_GINGIVAL_FIBROMATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GINGIVAL_FIBROMATOSIS SOS1 ANTXR2 CDKN2C ATP6V1B2 MEN1 CDKN1A KCNH1 TSC2 PDGFRB ABCA5 CDKN2B NOTCH3 TSC1 CDKN1B REST ELMO2 IFNG KCNN3 FAM20C DHCR24 HP_MICROGLOSSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROGLOSSIA PLCB4 EDN1 GLI3 SMO LMNB2 TRIM37 GNAI3 OTX2 NEK1 TBX15 DHCR7 RBBP8 PRRX1 PTDSS1 BMP4 MYMK ECM1 HP_ABNORMAL_UVULA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_UVULA_MORPHOLOGY NXN DLL1 SMPD4 CDH11 POMT2 PIGL PTCH1 FKRP HYLS1 AMMECR1 ZIC2 DDX59 SELENOI ROR2 TDGF1 FGF8 KMT2C SMAD4 PIGV SMCHD1 POMK SPTBN1 PLCB4 BCOR EDN1 DAG1 TXNL4A SLX4 LARGE1 DISP1 SMAD3 SIX3 ZEB2 TBX22 KCNK9 BMP4 FGFR1 FGFR3 PSAT1 EYA1 PIGY GAS1 DDX3X FOXH1 FTO TP63 SHMT2 TGFBR1 RFWD3 RECQL4 XYLT1 KIF14 ERCC4 KIF7 GLI2 NODAL XRCC2 STAG2 FGFR2 MAP3K7 CDC6 CUL3 SEC23A SON AMER1 IGBP1 SHH PPP1CB CDT1 POMGNT2 COL2A1 HYAL1 WDR35 FANCC TTN PIGW TGIF1 COL11A2 ORC1 POMT1 GMNN UBE2T MYLPF HNRNPK POLA1 RAD51 AEBP1 ALG3 CDON COL11A1 SMARCD1 B4GAT1 PGAP3 TGFB3 MAD2L2 SPEG SPECC1L RPS23 SMC1A GRHL3 USP9X RPL5 BRCA2 TTC37 SERPING1 PGAP1 FANCE PGAP2 DLG3 ORC4 DLK1 TBCE TMEM231 FANCI COL4A1 STAC3 GLI3 ATP6V1B2 FKTN CRPPA FANCA FANCL IFT140 PGM1 EIF4A3 TGFB2 SLC39A13 CDC45 FGF10 PTDSS1 SIX1 B3GALNT2 FANCB GNAI3 UBB PIEZO2 PHGDH PIGO DHCR24 ALG9 RYR1 SNRPN KCNN3 BIN1 TGFBR2 IRF6 B4GALT7 SIAH1 SATB2 RNU4ATAC POMGNT1 SETD5 MEG3 FLNA FANCF KCNH1 FANCG RTL1 BRCA1 TCTN3 ORC6 TBX1 RXYLT1 BRIP1 FANCD2 HAAO SMS FANCM PALB2 BGN RAD51C KAT6B HP_ABNORMAL_PALATE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PALATE_MORPHOLOGY TRPS1 CCDC32 KIAA0586 PIGA COLEC10 BUB1B ALX3 CCDC47 SELENON NUP107 SEMA3A TPM3 EIF2S3 KMT2D HPGD DPM1 VPS51 KANSL1 KISS1 TCTN3 WDFY3 SMAD4 CEP41 SMOC1 KAT5 IER3IP1 ADAM22 ANKRD11 CBL MAP2K1 MAP1B SIX3 ZEB2 CTSK SIN3A PEX12 SOS2 FLNB FGF8 FOXE1 EYA1 GRHL3 MYH7 KCNA1 NXN KCNMA1 SOS1 DOK7 MAP2K2 CHST14 MYLK MIR140 CLCF1 HACD1 ENG PROKR2 HUWE1 PIGN FIG4 TP63 COL11A1 NRAS KCNJ2 CDON GLI2 TACR3 MYH3 PLAG1 PEX6 PEX5 KBTBD13 ARCN1 PDHX VAC14 HNRNPU ZSWIM6 EFTUD2 CDT1 MED12 PEX7 STAT3 ERCC2 PQBP1 CTNNB1 LMNA EXT1 RPS29 HYAL1 PTPN14 RPS10 AP1S2 ATP7A CREBBP HYMAI B9D1 INSR PUM1 RARS2 ZIC2 HNRNPK DPH1 PROK2 SETBP1 SOX3 AEBP1 B3GALT6 YWHAE GBA SMARCA2 PTCH1 RPS24 B4GAT1 CHN1 NAA10 CHUK JARID2 DMXL2 BICRA RERE DONSON MAPRE2 ZMIZ1 INPP5E SLC2A10 C12orf57 CEP152 COG1 PGAP1 KDM5C PGAP2 GDF11 KIAA1109 UBB ARHGAP29 GSC SHOC2 NODAL SIX1 COL4A1 SPRY4 KIFBP RRM2B OTX2 NEB B9D2 CRPPA CDH11 MYPN CHRNA1 MED27 ECEL1 FGFR1 FGFR2 BRD4 EDN1 MTX2 RAI1 MKS1 CHRND FBN1 HIRA PPP1CB HNRNPH2 ATN1 TBX1 PTDSS1 SPTBN4 LHX4 TMEM216 SHH H19 SMG9 ERLIN2 CC2D2A ZMPSTE24 ADAMTS10 FKTN DISP1 CASK SATB2 KCNN3 STAG1 CFL2 QRICH1 RPL26 ADAT3 ATP6V1E1 RAPSN ARHGEF2 POLR1C AP4M1 SEC24D COL2A1 VPS13B NEK9 RTL1 EIF5A FGFR3 RXYLT1 SATB1 MN1 TGIF1 CEP290 RAD51C RPS28 SMPD4 HERC2 BUB3 RIT1 HS6ST1 MEOX1 PTEN RPL18 EARS2 SLC25A24 RAB3GAP2 BCOR ESS2 GNAI3 NFIX MYL2 IBA57 GLI3 NSDHL TCOF1 FGD1 SLX4 ATP6V0A2 ALX1 MID1 BMP4 HPDL MASP1 FTO RNF113A TMEM67 CBS MBTPS2 SOX10 ARID1B PIGL SEC23A LMOD3 KIF7 MFAP5 CUL4B MUSK HS2ST1 ZC4H2 MAP3K7 UBE3B PUS7 SLC10A7 NEFL TPM2 PLOD1 ABCC6 PDE6D COL11A2 PPP3CA PRRX1 TFAP2A COL6A3 RLIM CHRNB1 TTN PIGW FOXP2 UBE2T B3GLCT CRKL AR FN1 ALG3 PEX3 CPLANE1 NECTIN1 SNRPB DDX6 PIGG TGFB3 TGFBR2 SLC35C1 PRUNE1 SLC18A3 ZNF341 EBP RMRP SCUBE3 ZBTB24 SNAP25 PIGT LETM1 PIEZO2 HESX1 DDHD2 DST PEX26 TRIP12 RPS19 SLC35A2 FANCL TGFBR1 SOX5 SMC1A BPNT2 MAPK1 KAT6A OFD1 FAM20C PYCR2 PIGY RPL11 TCF4 DPYSL5 NDNF PRKG1 ARX LTBP2 ALG9 DDX59 TNNT3 FBN2 GDF3 SMC3 KIF1A LZTR1 ACTA1 SP7 TAPT1 TBX6 GP1BB ESCO2 GNE STAC3 SKI GFPT1 SMAD3 BRAT1 DYNC2H1 POR TCF3 DLG1 TWIST1 MAP3K20 RYR1 NPHP1 RET FANCD2 AP4S1 TRIP4 LARGE1 BGN KAT6B GNRH1 TCTN2 KMT2E NF1 SLC35D1 KRAS INTS1 ARL6 AMMECR1 MCTP2 C2CD3 MED25 COL13A1 TGFB2 SPTBN1 EFL1 TXNL4A RAB18 CDH1 SPECC1L DLK1 GDF6 ZNF469 TBX22 FREM2 TMEM237 NUP188 PLAGL1 GNPAT MT-TE CHAMP1 GPC4 RFWD3 MSX2 COL9A1 LRP5 CCDC141 TUBB BPTF PEX16 PYROXD1 PTPN23 SMS RPS20 HSPG2 GMPPB WDR4 IGBP1 MADD DVL3 RPGRIP1L PEPD SOX6 IRF6 LOX FOXA2 CHRNE COL3A1 GMNN SYT2 BCORL1 CDH2 ATP6V1A PSMD12 SLC26A2 CHD7 ANTXR1 AGO2 PTPN11 TXNDC15 RECQL4 SEC24C GATA3 COLQ RPL27 FOXH1 POLR1D RPS23 INTU PURA ORC1 TLK2 WASF1 SET PIGH RUNX2 SHOX FLNA STAG2 PNKP FANCA BRAF HERC1 LRRC8A DHCR7 MSX1 RUSC2 TBL1XR1 TUBB6 FRMPD4 SCARF2 TCF20 NSMF MYOD1 PUS1 FGF10 LGI4 DPAGT1 SOX9 KAT8 PLAA GTF2E2 PEX2 MECP2 SIAH1 CEP120 WNT3 MEG3 FANCF SIX5 TBR1 TBC1D24 ZNF292 CLTC ARVCF KCNK9 FGF9 TAF6 KCNH1 NFASC FEZF1 KIAA0753 DLL1 FZD2 TRAPPC4 MAMLD1 SLC5A7 TAC3 STXBP1 THOC2 FOXL2 ENPP1 DLX4 MAFB MYCN ERCC5 SPEN MYBPC1 ZNHIT3 SLC6A17 NTNG1 TRIO FLII GATA4 NUP88 ELMO2 RPL35 RPL35A POMK PGM3 SLC12A2 AP4E1 WNT5A CCDC28B PSAT1 GAS1 DOCK3 SHMT2 TMCO1 EP300 XYLT1 DUSP6 LARS2 XRCC2 TBX2 DLL3 FGF17 MYMK AMER1 PCLO ALDH6A1 ELN CTNND2 MED13L DSE TGDS NONO COL5A1 YY1 HDAC8 FANCC APC POMT1 PAH SUMO1 FLCN LRP4 POGZ MAD2L2 AK9 COLEC11 SEMA3E SERPING1 ALG2 MTM1 DLG3 DPM2 GNRHR GNB1 FAM50A AGRN TMEM231 CRLF1 NBN HSPA9 POLR1B MINPP1 MSTO1 TNNI2 KISS1R IFT140 RPS7 KLHL41 DGCR6 POMT2 FRAS1 UBA1 PRDM5 MYH2 TAB2 CHD3 MESD SLC25A19 LIG4 SNRPN VAMP1 EXOC7 WNT7A EXOC6B FLI1 SCN4A MOGS PAFAH1B1 SURF1 DDX11 MT-TS1 CDK19 RASA2 COL12A1 FANCG MT-CYB CTU2 COL9A3 BRIP1 FANCM PALB2 ATR A2ML1 DIS3L2 SUFU TRPV4 BMPER RAB23 ANOS1 TDGF1 KMT2C PAX7 PPP2R5D RPS6KA3 DHCR24 TBX4 GATA1 DAG1 CENPF RBM8A MYO9A SC5D PLXND1 TUBB3 RPS27 ERCC4 SLC25A46 SDHC DBH GRIP1 CTBP1 NOTCH3 CDKL5 OTUD6B FAT4 LOXL3 SIK3 NDUFA8 PAK3 ZNF699 TWNK CTCF ROR2 GPC3 PHIP FKRP YARS2 SIK1 ZDHHC9 OSGEP BRCA1 PITX1 CNTN1 CD79A PEX19 RRAS2 CLP1 SELENOI DHODH COG5 SLC25A1 CD96 GREB1L CNOT1 SPEG PPP1R21 B3GAT3 BUB1 COMT PIGB HOXA2 DVL1 ATRX BRCA2 IGLL1 MPLKIP CDC45 HSD17B4 CDK10 ORC4 NSD1 CHAT TBCE HRAS HMGA2 FLRT3 POLR1A NEK1 SVBP RRAS AFF4 TANC2 COL9A2 TARS1 ALX4 SDHD ATG7 SLC39A13 RPS26 COL6A1 PMM2 SLC12A6 FANCB IGF1R SYNGAP1 PHGDH DDR2 PIGO ERMARD POMGNT1 SETD5 CPT2 GLE1 TRMU MRPL12 PAX3 LAMB2 EDEM3 PGAP3 G6PC3 RB1 NLRP3 BMP2 RIPPLY2 DEAF1 AHI1 PEX1 HYLS1 RAF1 KMT2A CHRNG OCLN PIGQ KDM1A PPP2CA YAP1 MESP2 TELO2 ABL1 CHST3 NELFA NCDN FOXC2 SMO ARID2 FARSB PEX14 HECW2 ACBD5 RAD21 CDC6 CUL3 ZBTB20 EPG5 SON ERCC3 SH3PXD2B WDR35 KCNJ6 DPYD ACTL6A DCHS1 MAPK8IP3 ANK1 KCNJ5 TAF1 IL1RN RAD51 TET3 NOTCH2 USF3 SLC25A22 PLCB4 TMEM107 ZPR1 PAX1 RPL5 SCN2A FANCE WNT4 NID1 MEGF8 DGCR2 KDM6A IL1B NEUROD2 IGF2 DCC LMBRD1 KLHL7 FANCI SEPTIN9 CCBE1 MT-TN CTNND1 HES7 MYO18B CHSY1 RIPK4 NALCN ASXL1 ANKRD17 SALL4 TWIST2 IQSEC2 SMAD2 SDHB RIN2 UFD1 MED13 MRAS WDR11 MAF STAMBP IGHM BIN1 MAT2A VAX1 AKT1 RNASEH1 DYRK1A RAB3GAP1 EFEMP2 ORC6 SNX14 MYL1 GNB2 LFNG ARNT2 ERF ADA2 HOXD13 PEX10 SF3B4 GEMIN4 SH2B1 SMCHD1 ECM1 DHX30 TCTN1 CYP26C1 CDKN1C EFNB1 GRIA4 DDX3X AIFM1 GIPC1 ACTL6B PIGP MEGF10 HEY2 NEDD4L KLLN MEIS2 KATNIP OBSL1 TBX15 CARS1 UBR7 BBS1 COL1A2 TECR POMGNT2 FGFRL1 CPLX1 MED12L MYLPF FH KDM4B BCR FKBP14 OCRL GTF2H5 TASP1 ITGA7 LMX1B TRIM8 JMJD1C LRRC32 MYH11 CNTNAP1 WBP11 MECOM EIF2AK3 NIPBL ACTN2 UPF3B PROP1 GJA1 SEC31A ATP6V1B2 ATAD1 NSUN2 SOX2 RPL15 ACTA2 PORCN STIL CCDC22 EDNRA ITGA8 CNOT3 AASS PTCH2 B3GALNT2 AP4B1 PIGU PHF8 TBCK RPL31 B4GALT7 POU1F1 RBM10 USP9X SRY COPB1 SH3BP2 RREB1 REV3L TRMT1 CSNK2A1 WASHC5 RPS17 HAAO FBXW11 CILK1 NSD2 GAD1 MYT1L RPS15A WDR73 ARHGAP31 EXOSC9 INPPL1 COX14 FOXE3 DLX5 FOXF1 PIGV COL6A2 POLR2A ACVRL1 FBXL3 SCN1B TBC1D20 ADARB1 CSPP1 TSR2 WARS2 LBR GATAD2B MCM3AP DGCR8 NUAK2 KIF14 PIK3CA PEX11B WDR26 IRX5 ACTB GNAO1 GRIA3 FGF20 SHANK3 TOE1 TOGARAM1 SPOP IFT122 ACTG2 HBA2 FAM149B1 POLA1 PIK3R1 DSP SEMA5A SMARCD1 PEX13 PALS1 ALG14 TTC37 COX6A2 PCGF2 SLC17A5 CD79B IL17RD DHPS RPGRIP1 PRMT7 FUT8 SIX2 GJB2 ASXL3 SPRED1 PGM1 EIF4A3 KPTN TRRAP ODC1 BLNK POLR3A SEC23B CEP57 HYOU1 NTNG2 HBA1 JUP YARS1 RNU4ATAC BMPR1A THOC6 MKKS HTT TRIP13 TNRC6B LAGE3 RIC1 LRP12 HP_ABNORMALITY_OF_UPPER_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_UPPER_LIP ATP7A RNU4ATAC TRPS1 CCDC32 SATB1 COLEC10 DIS3L2 SH3PXD2B NUP107 SUFU HERC2 PUS7 GATAD2B EIF2S3 TRIP11 DPM1 B3GALT6 VPS51 ALG13 CDH1 METTL23 APC KANSL1 TAF13 TNRC6B DLL1 TDGF1 OBSL1 WDFY3 SMAD4 TRAPPC4 MRPS28 TSPAN7 GLI2 PPP2R5D ABCC8 STRADA PHC1 CENPJ DCPS RHOBTB2 SMOC1 KAT5 METTL5 IER3IP1 BRAF PYCR2 NAA10 ANKRD11 SPEN XYLT2 MAP1B SIX3 ZEB2 NEXMIF CDK13 SIN3A EXT2 KCNK9 FLNB SC5D EZH2 FOXH1 CSGALNACT1 NXN EDARADD SLC6A1 FGF8 KCNMA1 ATP6V1B2 KDF1 DYNC2H1 MAP2K2 CRTAP CHST14 MIR140 TMEM70 SLC25A46 RAC3 GRIP1 HUWE1 PIGN FIG4 COL11A1 ZIC2 KCNJ2 CTBP1 NOTCH3 MKS1 CDON PRKCZ ACTB OTUD6B SYP NDN FAT4 TRAPPC14 SHH NALCN DLG3 WDR19 RSPRY1 STXBP1 GPC4 PAK3 VAC14 ZNF699 HNRNPU CTCF ROR2 ZSWIM6 MEG3 GPC3 PHIP DOCK7 MED12 MAPK8IP3 MTOR FKRP PQBP1 YARS2 CTNNB1 GLIS3 EXT1 MED13 AP1S2 ZDHHC9 NCF1 CREBBP CERT1 FOXL2 ATRX TGIF1 KIF15 CLIC2 AP2M1 BRCA1 HNRNPK MSX1 CLP1 UGDH SETBP1 FBN1 SNRPN DHODH CD96 UBE2A BCL7B GREB1L CNOT1 PTCH1 DISP1 SCN1A ACSL4 ZNF711 ADNP CHUK CNKSR2 CACNA1C EPB41L1 JARID2 TBL1XR1 MID2 ARID2 RERE UBE3B PPP1R21 B3GAT3 ACER3 COMT PIGB RAB3GAP2 PDE4D ZMIZ1 DVL1 SLC2A10 COG1 WDR35 DMPK CDK10 PGAP2 GDF11 SRCAP ELN ARID1B TBCE RPS6KA3 NODAL EIF4H LMX1B RAB18 PACS1 MPC1 NEB KIDINS220 USP27X PACS2 NONO NEK1 SVBP MSX2 SMARCA2 CDH11 TOR1A TMEM94 AFF4 TANC2 FGFR1 MED27 BPTF POLR1B IRF6 BRD4 BUD23 KAT6A RAI1 ATG7 HIRA SNORD116-1 DLK1 CDK5RAP2 STAG2 PPP1CB CLDN3 HNRNPH2 ATN1 CYFIP2 PMM2 TBX1 LHX4 SETD5 FAR1 IGF1R HSPG2 PHGDH TAB2 BCL11B SLC26A2 POLR3GL TCF4 ERLIN2 MAP2K1 CAMTA1 SMC1A PWRN1 AUTS2 FKTN DPYSL5 PIGO RALA CASK ERMARD MAB21L1 SATB2 USP9X MKRN3 DOCK3 PWAR1 EXTL3 QRICH1 ATP6V1E1 CLCN4 ARHGEF2 POLR1C KIFBP KCNH1 AP4M1 TOE1 POMT2 VPS13B NEK9 RTL1 PAX3 EIF5A EDEM3 TMEM270 PGAP3 NFIA PDPN LTBP3 ZBTB18 SIM1 RPL10 SMPD4 IREB2 KIF11 BMP2 PIGL RIPPLY2 POR DEAF1 HYLS1 PHF21A SLC25A24 ESCO2 KMT2A BCOR CHRNG ZNF41 TRIP12 OCLN NFIX EMC1 RTTN TRIO ITCH ADSL KDM1A PPP2CA YAP1 MESP2 ZNF81 GLI3 HOXB1 PTEN SMC3 TCOF1 FGD1 ATP6V0A2 CHST3 NELFA CPLX1 CHD2 TBCK IFT80 PRKACA MID1 TP63 HPDL FOXC2 SNAI2 RNF135 FTSJ1 MBD5 EEF1A2 MASP1 SMO METTL27 MAPK1 CDC6 SEC23A TRAPPC9 MAP3K7 CKAP2L KIF7 CUL4B MUSK PPP1R12A MAGEL2 FOXG1 HS2ST1 RAD21 EDA ZC4H2 CEP152 EPG5 SON SASS6 CDKL5 ASPM PIGS SPECC1L RPS7 TFAP2A CDC42 LUZP1 GJA1 RLIM KDM4B GNE KCNJ6 DPYD ACTL6A DCHS1 RFC2 AP3B1 WNT5A PIGW KCNJ5 TAF1 B3GLCT PIGQ ATP1A3 IL1RN CCNK CRKL ALG9 TET3 OGT ALG12 NOTCH2 PSMD12 OCA2 CPLANE1 NECTIN1 WAC INPPL1 DDX6 PIGG TGFB3 ARID1A COG7 RAB11B ZPR1 DHX37 PRKACB SLC35C1 SHOC2 ARHGEF6 RPL5 COX7B CLIP2 AP3D1 ABHD11 POGZ EFTUD2 MMACHC OPHN1 MYH3 PIGT LETM1 IL1B MFSD2A ACTA1 SMARCE1 COL3A1 IFIH1 SYT1 LMBRD1 CCBE1 CEP135 WDR26 STX1A CTNND1 LARP7 CCDC22 PEX26 CCDC8 PAFAH1B1 FREM1 EP300 MOCS2 SNRPB SLC35A2 HES7 DNMT3A SMARCA4 SLC2A1 PREPL LAS1L EXOC2 MYO18B MYH8 CHSY1 RIPK4 NKAP ASXL1 ANKRD17 OFD1 FAM20C IQSEC2 FGF3 ABCC9 STEEP1 SUZ12 GNPTAB CLCF1 KNL1 UFD1 IL1RAPL1 DDX59 MAF KIF1A GALNT2 POMT1 IFT57 VAX1 TAPT1 GTF2IRD2 GP1BB TMEM237 BRAT1 ERCC6 CIT GRHL3 VPS37D BRF1 PRKDC MECP2 HRAS RAB3GAP1 MAPRE2 EDA2R PLOD3 GPC6 PPP2R3C TCTN3 EED AP4S1 LARGE1 SNX14 PTH1R TCTN2 LMNB1 KMT2E EXOSC1 NF1 GTF2I HDAC8 BUB1B ZNHIT3 IARS2 GNB2 LFNG KCNJ8 KRAS ALX3 INTS1 SLC45A1 AMMECR1 AP4E1 MAN1B1 MEF2C EXOSC2 HOXD13 SPOP ANKLE2 DDB1 MMP23B SF3B4 MCTP2 MED25 UBR7 SLC9A7 SPTBN1 TXNL4A CYP26C1 FZD2 FRMPD4 AGL ATIC PTCHD1 WDR37 KIAA0753 FREM2 ARX GRIA4 MGP PPM1D DDX3X CHAMP1 ACTL6B TBL2 MCPH1 MEIS2 KCNJ11 FBXO11 EDAR TUBB RYR1 ATP1A2 PTPN23 SMS SMARCC2 KCNK4 WNT4 MADD RET WDR4 UNC80 DVL3 FGFRL1 DPM2 RPGRIP1L MED12L RUNX2 FOXA2 PUF60 PDHA1 DNAJC30 DYRK1A PROKR2 PPP2R1A BCORL1 SUMF1 CDH2 BCR ATP6V1A CHD7 ANTXR1 DMD KIF14 OCRL AGO2 HIC1 TASP1 SETD1A WDR62 EVC2 CLCN6 TALDO1 CCNQ BRCC3 SEC24C PURA POLR1D CAMK2G INTU SOX11 JMJD1C LRRC32 ACTG1 WASF1 RAB39B EFNB1 GDI1 NOVA2 SLC29A3 DENND5A KDM5C NIPBL CUL7 NSDHL RIN2 SLC35A1 PROP1 PBX1 PSMC3 HESX1 DHCR7 UBE4B CSNK2B PORCN STIL CANT1 COL2A1 ITGA8 CNOT3 EVC CEP63 PIEZO2 TCF20 TFAP2B AASS ADAMTSL1 PIGK MYOD1 PUS1 PTCH2 TBC1D24 KAT8 AP4B1 MYMK PIGU PHF8 FLNA NBN PLAA TPM3 RAPSN ORC4 UPF3B POU1F1 ALG8 ZNF462 WNT3 FGFR2 KATNB1 ALX4 SLC1A3 ERCC1 TBC1D20 TBR1 ZNF292 CLTC ARVCF PAM16 TAF6 AFF2 NCAPD3 CBL PRDX1 RREB1 TRMT1 CSNK2A1 FBXW11 CILK1 NSD2 GAD1 MYT1L DLX4 ARHGAP31 PIK3CA GTF2IRD1 SLC6A17 NTNG1 FLII RSPO2 TWIST2 TENM3 PIGV PTPRF TRMT10A GLB1 DYNC2I1 SLC12A2 AGTR2 ADARB1 PITX2 COL11A2 MEOX1 DYNC2I2 PSAT1 WARS2 PIGY GAS1 DPF2 CNOT2 SHMT2 TMCO1 PARS2 BRPF1 SEMA3E XYLT1 NUAK2 SSR4 CDK6 SMARCB1 ZNF148 KARS1 IRX5 DLL3 GRIA3 TWIST1 FGF20 SHANK3 AMER1 PKDCC NFIB YWHAE PCLO PPP1R15B ALDH6A1 CC2D2A MARS2 ADAMTS3 HK1 KAT6B DSE TGDS HDAC6 YY1 AFF3 SYNGAP1 PDGFRB MSL3 MOCS1 PAH SMARCD1 SUMO1 FLCN PRMT7 LRP4 IFT43 LEMD2 PALS1 C12orf57 ADAMTSL2 SOX4 AMPD2 NLRP1 COLEC11 TTC37 PCGF2 COPB2 EHMT1 BMP1 NCAPG2 CRLF1 LAT2 KCNAB2 MINPP1 ASXL3 TNNI2 TUBGCP2 MLXIPL KLHL41 BCL11A ALG11 LIMK1 NBAS SKI NSUN2 FRAS1 TRRAP MTX2 BAZ1B ODC1 HSD17B4 MESD RNF2 POLR3A UGP2 AVP ADGRG6 EBF3 KDM3B OTX2 CASZ1 NOG PRDM16 NRAS NTNG2 KIT EXOC7 PTRH2 LTBP4 EXOC6B FLI1 JUP RPS19 THOC6 CACNA1A VPS35L FKBP6 NSD1 CDK19 CLDN4 NPAP1 HTT HCFC1 SMG8 GABRD IFT81 SNORD115-1 RIC1 GBA HP_ABNORMALITY_OF_LOWER_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LOWER_LIP ERCC2 SMARCA2 RPL10 A2ML1 TFAP2A GTF2I KIF11 RIT1 MAFB WT1 BMP2 GTF2IRD1 PUS7 KNSTRN SDR9C7 MYCN KRAS SLC25A24 ABCC9 RAF1 KANSL1 GPR101 ALOXE3 CAMTA1 ZNF41 OBSL1 KMT2C MED25 HGSNAT STRADA SLC9A7 RPS6KA3 IDS ECM1 KAT5 ZNF81 DHX30 IFT43 CBL FGD1 FRMPD4 CHD2 AGA ZEB2 AGTR2 PTCHD1 SIN3A SOS2 TGM1 ZSWIM6 ARX AIP MGAT2 MBD5 PSAT1 RNF135 FTSJ1 PAK3 CDKL5 PTH1R EEF1A2 DPF2 PLXND1 ERCC1 EDARADD CHAMP1 METTL27 SLC6A1 TBL2 SOS1 ARID1B ATP6V1B2 CUL4B RAB3GAP2 SMARCB1 PITX2 GLA FBXO11 EDAR HECW2 NRAS EDA DEAF1 KCNMA1 ZBTB20 SMS FRMD4A SETD1B SMARCC2 HSPG2 SYP AMER1 DLG3 ERCC6 NANS PIGN SPECC1L IDUA ADNP DOCK7 MED12 EHMT1 WDR19 MED12L YY1 IRF6 IFT122 AFF3 NCF1 HUWE1 RFC2 SYNGAP1 ATRX KIF15 CLIC2 DNAJC30 DYRK1A POMGNT1 PIGL RRAS2 UGDH SMARCD1 FBN1 NEXMIF GNS ANTXR1 BCL7B ORC6 DMD OCRL TASP1 SCN1A ARID1A CHN1 ACSL4 ZNF711 LTBP3 CNKSR2 TBL1XR1 MID2 SOX4 PTPN11 ARID2 ALOX12B ACER3 RPS23 AP2M1 MCOLN1 SHOC2 ARHGEF6 SOX11 C12orf57 CLIP2 ORC1 FOXC1 ABHD11 FBXL4 PIK3CD RAB39B FUCA1 WDR35 GDI1 KDM6A NIPAL4 ELN KCNH1 SMARCE1 ABHD5 BDNF CYP24A1 GRHL3 ALG13 CUL7 EIF4H PAX6 LAT2 MECP2 HRAS STX1A CDT1 USP27X CCDC8 ASXL3 RRAS CDH11 FHL1 IFT52 NFIX SULT2B1 SMARCA4 MLXIPL ABCA12 SLC2A1 MYO18B BUD23 EDNRA TSPAN7 BCL11A SALL4 SCARF2 PSMB8 LIMK1 PPP1CB CLDN3 TFAP2B TBC1D24 BAZ1B IQSEC2 MDH1 STEEP1 RIN2 ADAMTS2 PHGDH EBF3 MRAS IL1RAPL1 SMG9 SNRPN KCNN3 LZTR1 UPF3B LIPN COL11A1 NAGA IGF1R NEU1 GTF2IRD2 USP9X QRICH1 MED13L ERCC5 CLCN4 THOC6 KIFBP FKBP6 SRD5A3 CYP4F22 INSR CLDN4 RASA2 VPS37D HCFC1 RAB3GAP1 MSX1 EDA2R REV3L RET TMEM270 FOXG1 RBMX GBA HS2ST1 HP_THICK_LOWER_LIP_VERMILION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICK_LOWER_LIP_VERMILION SMARCA2 MID2 A2ML1 SOX4 PTPN11 ARID2 GTF2I KIF11 RIT1 ACER3 RPS23 AP2M1 GTF2IRD1 SHOC2 ARHGEF6 ATRX C12orf57 CLIP2 KRAS ORC1 ABCC9 ABHD11 RAB39B RAF1 FUCA1 GPR101 CAMTA1 GDI1 ANTXR1 ELN ZNF41 ARID1B RPS6KA3 KCNH1 SMARCE1 CYP24A1 STRADA ALG13 SLC9A7 CUL7 IDS EIF4H ECM1 KAT5 ZNF81 LAT2 MECP2 HRAS STX1A CDT1 CBL USP27X FRMPD4 CHD2 AGA ZEB2 RRAS CDH11 AGTR2 PTCHD1 SIN3A SOS2 ARX AIP SMARCA4 MLXIPL SLC2A1 RNF135 FTSJ1 PAK3 CDKL5 PTH1R BUD23 DPF2 TSPAN7 FBN1 METTL27 SLC6A1 TBL2 SOS1 PSMB8 LIMK1 MED12 PPP1CB CLDN3 ATP6V1B2 CUL4B YY1 SMARCB1 TBC1D24 BAZ1B GLA IQSEC2 HECW2 STEEP1 NRAS RIN2 DEAF1 ZBTB20 SMS FRMD4A SETD1B SMARCC2 EBF3 SYP MRAS IL1RAPL1 SMG9 AMER1 DLG3 KCNN3 LZTR1 NANS UPF3B ADNP COL11A1 NAGA NEU1 EHMT1 GTF2IRD2 USP9X CLCN4 AFF3 NCF1 HUWE1 RFC2 PHGDH SYNGAP1 FKBP6 SRD5A3 KIF15 INSR CLDN4 RASA2 DNAJC30 DYRK1A VPS37D PIGL HCFC1 RRAS2 UGDH SMARCD1 NEXMIF GNS RET TMEM270 BCL7B ORC6 DMD TASP1 SCN1A RBMX ARID1A SOX11 ACSL4 ZNF711 KMT2C LTBP3 CNKSR2 HP_LOBULATED_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOBULATED_TONGUE CPLANE1 OFD1 KIF7 KIAA0753 TCTN3 TMEM216 PDE6D C2CD3 MKS1 CEP120 TMEM231 FAM149B1 DDX59 HP_MOVEMENT_ABNORMALITY_OF_THE_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOVEMENT_ABNORMALITY_OF_THE_TONGUE PLCB4 FRAS1 EDN1 ATP13A2 GAA MTPAP ALS2 TUBB4A GNAI3 GIPC1 SH3TC2 HP_DIFFICULTY_IN_TONGUE_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFICULTY_IN_TONGUE_MOVEMENTS PLCB4 FRAS1 EDN1 ATP13A2 GAA ALS2 GNAI3 GIPC1 SH3TC2 HP_CLEFT_SOFT_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLEFT_SOFT_PALATE RPS28 DLL1 SMPD4 RPS15A CDH11 ADA2 POMT2 PIGL PTCH1 RPL18 FKRP HYLS1 AMMECR1 ZIC2 DDX59 SELENOI COL2A1 RPL35 TDGF1 FGF8 KMT2C SMAD4 PIGV RPL35A SMCHD1 POMK PLCB4 BCOR EDN1 GATA1 DAG1 TXNL4A LARGE1 DISP1 SMAD3 SIX3 ZEB2 TBX22 KCNK9 BMP4 TSR2 TP63 FGFR1 FGFR3 PSAT1 EYA1 PIGY GAS1 GRHL3 DDX3X FOXH1 FTO TCOF1 SHMT2 TGFBR1 RPS27 RECQL4 XYLT1 KIF14 MSX2 KIF7 GLI2 NODAL STAG2 FGFR2 MAP3K7 CDC6 CUL3 SEC23A SON RPS20 RPL5 AMER1 IGBP1 SHH NEK1 PPP1CB CDT1 POMGNT2 RPS29 HYAL1 RPS10 RPS26 RPL26 TTN PIGW TGIF1 COL11A2 ORC1 POMT1 GMNN MYLPF HNRNPK POLA1 FKBP14 CDON COL11A1 SMARCD1 RPS24 B4GAT1 PGAP3 TGFB3 SPEG ZPR1 SPECC1L RPL27 RPS23 SMC1A DVL1 USP9X TTC37 PGAP1 PGAP2 DLG3 ORC4 UBB DLK1 TBCE TMEM231 COL4A1 ALG3 STAC3 GLI3 ATP6V1B2 FKTN NONO CRPPA RPL15 SNRPB RPS19 IFT140 PGM1 RPS7 EIF4A3 TGFB2 SLC39A13 CDC45 FGF10 PTDSS1 RPL11 SIX1 B3GALNT2 GNAI3 POLR3A PIEZO2 PHGDH PIGO DHCR24 SLC25A19 ALG9 RYR1 SNRPN RPL31 KCNN3 BIN1 TGFBR2 IRF6 B4GALT7 SIAH1 SATB2 RNU4ATAC POMGNT1 SETD5 MEG3 FLNA DYRK1A KCNH1 RTL1 TCTN3 ORC6 TBX1 RXYLT1 RPS17 HAAO SMS BGN KAT6B HP_BROAD_ALVEOLAR_RIDGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_ALVEOLAR_RIDGES TBC1D24 OFD1 SETBP1 RERE GJA1 FIG4 DIS3L2 VAC14 ASXL1 GPC3 ZC4H2 ARX GPC4 SH3PXD2B DHCR7 ATP6V1B2 HP_SHORT_UPPER_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_UPPER_LIP CPLX1 CTBP1 AMPD2 FIG4 TWIST2 VAC14 LETM1 GRIA3 NSD2 ATRX EMC1 FGFRL1 HP_NARROW_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_PALATE ATP7A TRPS1 HERC2 GPC4 DIS3L2 ERF FBN1 COL12A1 DPM1 ARL6 PEX1 SLC25A24 DDX59 FOXE3 SPEN SLC6A17 KANSL1 ELMO2 RPS6KA3 TGFB2 SPTBN1 TGFB3 RAB18 MAP2K1 PTPN11 FGFR2 WNT5A CCDC28B CTSK SIN3A GIPC1 RNF113A ARID2 MCM3AP RECQL4 EP300 HEY2 ATP6V1B2 MYLK SLC25A46 MUSK HECW2 TBX2 FIG4 GRIA3 CDC6 LOX BBS1 DVL1 PLOD1 MADD ERCC3 PCLO TECR VAC14 GPC3 CDT1 MED12 FGFR3 ELN ERCC2 NONO MED12L IFT122 KCNJ6 PEX5 BRAF ORC1 MFAP5 FOXP2 COL3A1 APC RARS2 BRCA1 GMNN TAF1 HNRNPK CNTN1 PTEN CRKL AEBP1 BCR COL11A1 OCRL GTF2H5 ABCC6 MED25 LRP4 NAA10 SMAD4 TGFBR2 UBE3B SLC35C1 PRUNE1 INTU MYH11 MPLKIP BCOR CDK10 ORC4 NSD1 CPT2 ANTXR1 MEGF8 PIGT ACTA1 RUNX2 NIPBL CCBE1 VPS13B NEB CREBBP SMARCA2 SPRED1 ACTA2 TGFBR1 TARS1 ASXL3 KLHL41 CCDC22 HRAS SOX5 ASXL1 MAPK1 TWIST2 SCARF2 PIEZO2 ATN1 CDC45 SETBP1 TBC1D24 PTDSS1 SMAD2 CHD3 MESD PRKG1 DVL3 SMG9 GTF2E2 TBCK TPM3 AMER1 ADAMTS10 MAT2A NOTCH3 DPYSL5 ERMARD WNT7A GNE BMPR1A SKI SMAD3 POR KCNK9 MAP3K7 COPB1 TWIST1 NEK9 SH3BP2 FZD2 WASHC5 RET TCTN3 ORC6 TBX1 SMS HP_ABNORMAL_ORAL_FRENULUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ORAL_FRENULUM_MORPHOLOGY TBC1D24 KIF7 SPECC1L PRKACB EVC2 POU4F1 OFD1 DYNC2LI1 EVC DDX59 CPLANE1 NEK1 TCTN3 RSPO2 PDE6D IFT57 C2CD3 ROR2 EFTUD2 ZMPSTE24 SETD5 GLI1 LMNA FLNA SPTBN1 MMP1 WDR35 AFF3 GLI3 CD96 TBR1 TELO2 TMEM216 FREM1 COL3A1 PRKACA COL7A1 FAM149B1 TBX22 B3GLCT KIAA0753 CRKL RIPK4 IFT140 BCR NXN MAPK1 FAM111A ATP6V1B2 CHUK HP_ACCESSORY_ORAL_FRENULUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACCESSORY_ORAL_FRENULUM OFD1 IFT140 GLI3 CD96 PRKACB IFT57 C2CD3 CPLANE1 EFTUD2 DYNC2LI1 TCTN3 PRKACA DDX59 CHUK HP_BIFID_UVULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIFID_UVULA DLL1 SMPD4 CDH11 POMT2 PIGL PTCH1 FKRP HYLS1 AMMECR1 ZIC2 DDX59 SELENOI TDGF1 FGF8 KMT2C SMAD4 PIGV SMCHD1 POMK PLCB4 BCOR EDN1 DAG1 TXNL4A LARGE1 DISP1 SMAD3 SIX3 ZEB2 TBX22 KCNK9 BMP4 FGFR1 FGFR3 PSAT1 EYA1 PIGY GAS1 DDX3X FOXH1 FTO TP63 SHMT2 TGFBR1 RECQL4 XYLT1 KIF14 KIF7 GLI2 NODAL STAG2 FGFR2 MAP3K7 CDC6 CUL3 SEC23A SON AMER1 IGBP1 SHH PPP1CB CDT1 POMGNT2 COL2A1 HYAL1 TTN PIGW TGIF1 COL11A2 ORC1 POMT1 GMNN MYLPF HNRNPK POLA1 CDON COL11A1 SMARCD1 B4GAT1 PGAP3 TGFB3 SPEG SPECC1L RPS23 SMC1A GRHL3 USP9X RPL5 TTC37 PGAP1 PGAP2 DLG3 ORC4 DLK1 TBCE TMEM231 COL4A1 ALG3 STAC3 GLI3 ATP6V1B2 FKTN CRPPA IFT140 PGM1 EIF4A3 TGFB2 SLC39A13 CDC45 FGF10 PTDSS1 SIX1 B3GALNT2 GNAI3 UBB PIEZO2 PHGDH PIGO DHCR24 ALG9 RYR1 SNRPN KCNN3 BIN1 TGFBR2 IRF6 B4GALT7 SIAH1 SATB2 RNU4ATAC POMGNT1 SETD5 MEG3 FLNA KCNH1 RTL1 TCTN3 ORC6 TBX1 RXYLT1 HAAO SMS BGN KAT6B HP_OPEN_MOUTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPEN_MOUTH ANKLE2 RTL1 ZNHIT3 DIS3L2 RPS23 PUS7 EIF2S3 KIF7 RAI1 ATRX DEAF1 SOX11 SLC9A6 MEF2C HNRNPK POGZ KANSL1 FLII UNC80 POMT2 SLC6A8 ESS2 DGCR2 DENND5A STRADA RPS6KA3 PURA ADAM22 BRAF DST VPS13B NONO TBX1 ZEB2 NEXMIF RAC1 PPP2R1A SIN3A SLC35A2 ZSWIM6 CSNK2B AKT1 PRKAR1A MGAT2 MBD5 MLXIPL ASXL3 MED12 DGCR6 AP1S2 AGO2 PLXND1 NKAP CHAMP1 PARS2 NFIX TCF20 MAGEL2 DLK1 DGCR8 FOXP1 IQSEC2 SOX5 ATP6V1B2 ATN1 TBC1D24 MTOR INPP5E PPP2R5D GRIA3 PIGT ELN AHI1 TCF4 CCDC174 PDE4D LAMA2 SNRPN PIGF NRAS KIF1A PAK3 GFM2 KCNJ6 TMEM237 MED13L EXTL3 MED12L MEG3 DPYD CLTC KCNH1 KCNK9 IL1RAPL1 HRAS FAM149B1 TET3 OGT REV3L OCRL CCDC88A TUBB4A GBA PIGN HP_ABNORMAL_PAROTID_GLAND_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PAROTID_GLAND_MORPHOLOGY CXCR4 PSMB8 FGFR3 FGF10 FGFR2 TP63 TCOF1 HLA-DRB1 BTNL2 ATP2A2 HP_TONGUE_NODULES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TONGUE_NODULES CPLANE1 OFD1 KIF7 NEK1 TCTN3 TMEM216 PDE6D RBM10 FAM149B1 ECM1 KIAA0753 HP_SHORT_LINGUAL_FRENULUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_LINGUAL_FRENULUM TBC1D24 FREM1 WDR35 SPECC1L B3GLCT KIAA0753 LMNA ATP6V1B2 ZMPSTE24 HP_PIERRE_ROBIN_SEQUENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PIERRE_ROBIN_SEQUENCE FLNA COL11A1 MYMK COG1 BMP2 SATB2 TBX1 COL2A1 AMER1 COL11A2 SLC10A7 SCUBE3 PGM1 EIF4A3 DGCR6 ESS2 DGCR2 ANKRD17 RBM10 MAP3K7 DGCR8 HP_ORAL_CLEFT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORAL_CLEFT WNT4 ATR KIAA0586 COLEC10 BUB1B ALX3 NUP107 SUFU SEMA3A EIF2S3 TRPV4 KMT2D B3GALT6 BMPER HNRNPK CDH1 MAMLD1 KANSL1 KISS1 ANOS1 TCTN3 DLL1 WNT10A TDGF1 KMT2C SMAD4 GLI2 PPP2R5D DHCR24 CEP41 SMOC1 KAT5 BRAF TBX4 GATA1 DAG1 CENPF MAP2K1 SMAD3 SIX3 ZEB2 RBM8A KCNK9 FLNB FGF8 FOXE1 EYA1 GRHL3 PLXND1 FOXH1 INPP5E KCNA1 NXN RPS27 DYNC2H1 ERCC4 MAP2K2 TP63 CHST14 MIR140 TCTN1 GRIP1 PROKR2 PIGN COL11A1 ZIC2 CTBP1 MKS1 CDON ACTB CDKL5 TACR3 MYH3 PLAG1 GLI3 SUCLG1 LOXL3 SHH EMG1 PEX5 ARCN1 CTCF ROR2 ZSWIM6 EFTUD2 GPC3 CDT1 MED12 PEX7 FKRP PQBP1 SIK1 PROK2 RPS29 HYAL1 RPS10 FGF17 TMEM237 CREBBP B9D1 TGIF1 PITX1 MYOD1 DPH1 MSX1 SOX3 SELENOI DHODH KCNJ2 SMARCA2 CD96 FLNA GREB1L PTCH1 RPS24 DISP1 B4GAT1 CHN1 CHUK SPEG RECQL4 DMXL2 BICRA RERE B3GAT3 BUB1 AHI1 COMT HOXA2 DONSON MAPRE2 DVL1 BRCA2 COG1 FGFR2 PGAP1 CDC45 WDR35 PGAP2 IRF6 GDF11 ORC4 UBB ARHGAP29 TBCE NODAL SIX1 COL4A1 SPRY4 KIFBP HMGA2 OTX2 FLRT3 POLR1A NONO B9D2 CRPPA NEK1 MSX2 CDH11 FUZ FGFR1 COL9A2 POLR1B ECEL1 BRD4 SUMO1 EDN1 ALX4 RUNX2 VANGL1 NEB RAI1 HIRA STAG2 SLC39A13 ATN1 RPS26 TBX1 PTDSS1 CC2D2A LHX4 TMEM216 FANCB STAT3 PHGDH SMG9 ZMPSTE24 AMER1 FKTN NAA10 PIGO SATB2 KCNN3 POMGNT1 SETD5 STAG1 DUSP6 RPL26 RAPSN POLR1C COL2A1 POMT2 RTL1 PAX3 EIF5A LMNA EDEM3 BRCA1 RXYLT1 EDA PGAP3 G6PC3 CEP290 RAD51C RB1 RPS28 SMPD4 GPC4 BUB3 HS6ST1 MEOX1 PIGL RIPPLY2 POR ARMC9 RPL18 DEAF1 EARS2 HYLS1 ESCO2 CCDC32 BCOR CHRNG ESS2 PIGQ GNAI3 NFIX BMP4 YAP1 MESP2 SMC3 TCOF1 FGD1 TELO2 SLX4 LARGE1 ALX1 CHST3 NELFA IFT80 GNB1 MID1 FOXC2 FGFR3 CEP104 MASP1 SMO FTO ARID2 TMEM67 CEP120 TGFBR1 MBTPS2 SOX10 ARID1B KIF7 MUSK ACBD5 RAD21 MAP3K7 CDC6 TRAPPC9 CUL3 SEC23A EPG5 SON COLEC11 SLC10A7 PDE6D SPECC1L COL11A2 PPP3CA PRRX1 TFAP2A TBX22 TGDS IKBKG WNT5A TTN PIGW FOXP2 UBE2T B3GLCT SLC26A2 IL1RN CRKL RAD51 AR CPLANE1 NECTIN1 SNRPB SLC25A22 PIGG TGFB3 PLCB4 TMEM107 ZPR1 SLC18A3 RPL5 EBP SCN2A FANCE NID1 SCUBE3 DOK7 DGCR2 KDM6A LETM1 IL1B NEUROD2 IGF2 DCC HESX1 FANCI SEPTIN9 CTNND1 RPS19 HES7 FANCL PSAT1 SMC1A BPNT2 CHSY1 KATNIP RIPK4 ASXL1 MAPK1 KAT6A ANKRD17 SALL4 OFD1 FAM20C IQSEC2 EPCAM RPL11 RPGRIP1L NDNF ALG9 UFD1 DDX59 WDR11 MAF STAMBP BIN1 GDF3 POMT1 IFT57 VAX1 TAPT1 TGFBR2 TBX6 GP1BB STAC3 DYRK1A PIEZO2 DLG1 TWIST1 NPHP1 ORC6 FANCD2 BGN KAT6B GNRH1 TCTN2 SLC35D1 HDAC8 LFNG ARNT2 ADA2 KRAS VANGL2 INTS1 AMMECR1 HOXD13 SF3B4 RSPO2 MCTP2 C2CD3 MED25 SH2B1 PAX9 SMCHD1 SOX9 TXNL4A CYP26C1 GDF6 ZNF469 CDKN1C FREM2 EFNB1 ARL13B NUP188 DDX3X PIGP MEGF10 RFWD3 NEDD4L CBY1 ARL3 MEIS2 COL9A1 CCDC141 TUBB TBX15 CARS1 IGBP1 SMS CASK RPS20 HSPG2 RET PPP1CB DVL3 POMGNT2 FGFRL1 SOX6 CPLX1 FOXA2 PHF6 GMNN MYLPF BCR FKBP14 CHD7 NSMF PTPN11 TXNDC15 EVC2 SEC24C LMX1B GATA3 RPL27 POLR1D TRIM8 RPS23 TGFA INTU JMJD1C LRRC32 ORC1 ACTG1 SLC29A3 WBP11 DLK1 MECOM NOTCH2 NIPBL NSDHL PNKP PROP1 GJA1 ATP6V1B2 NSUN2 FANCA SOX2 RPL15 DHCR7 PORCN STIL CCDC22 EDNRA ITGA8 PIBF1 EVC TGFB2 SCARF2 FGF10 PTCH2 TBC1D24 ARL6IP6 B3GALNT2 MYMK PHF8 AXIN2 NBN RYR1 RPL31 B4GALT7 SIAH1 POU1F1 PUF60 RBM10 USP9X WNT3 ZC4H2 MEG3 FANCF CHRNA1 CSPP1 SIX5 TBR1 ARVCF WNT10B FGF9 KCNH1 NFASC FEZF1 KIAA0753 RREB1 REV3L FZD2 WASHC5 RPS17 HAAO TAC3 STXBP1 CILK1 HS2ST1 NSD2 GAD1 LRP6 RPS15A DLX4 ARHGAP31 MAFB TMEM231 ERCC5 INPPL1 DLX5 FLII NUP88 RPL35 SLC2A10 FOXF1 PIGV RPL35A EDARADD POLR2A POMK DYNC2I1 SCN1B TSR2 DYNC2I2 PIGY GAS1 LBR SHMT2 TMCO1 SEMA3E DGCR8 XYLT1 NUAK2 KIF14 WDR26 KLHL41 LARS2 GNAO1 XRCC2 TBX2 DLL3 FGF20 CHRND DSE SPOP LMBRD1 FANCC ACTG2 MTHFR FAM149B1 POLA1 GMPPB DSP SMARCD1 MAD2L2 TTC37 DLG3 IL17RD GNRHR FAM50A RPGRIP1 ALG3 GJB2 IFT172 KISS1R IFT140 PGM1 RPS7 EIF4A3 DGCR6 ANKRD11 PEX2 FRAS1 TRRAP PRDM5 POLR3A SLC25A19 ARX LIG4 CEP57 SNRPN JUP WNT7A EXOC6B RNU4ATAC MKKS TRIP13 FANCG MT-CYB COL9A3 BRIP1 FANCM PALB2 RIC1 HP_CLEFT_UPPER_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLEFT_UPPER_LIP NSD2 DLL1 TCTN2 SMPD4 GPC4 TFAP2A DLX4 ARHGAP31 SIX3 COLEC10 SUFU ALX3 PTCH1 KIF7 RAI1 DEAF1 FGFR1 HYLS1 ZIC2 DDX59 ESCO2 CDH1 OFD1 KANSL1 STIL FLII HOXD13 IRF6 GLI2 SF3B4 RSPO2 TDGF1 SLC2A10 FGF8 SMAD4 PIGV SMOC1 YAP1 KAT5 DYNC2I1 DHODH GLI3 TP63 TXNL4A TCOF1 FGD1 CYP26C1 DISP1 NELFA SPECC1L IFT80 WNT5A MID1 NECTIN1 FLNB FREM2 FOXC2 MEOX1 DYNC2I2 GAS1 MASP1 DDX3X SMO FOXH1 TMCO1 SEMA3E GJA1 DYNC2H1 NUAK2 MEIS2 CHD7 NODAL GRIP1 ACTB PIGN STAG2 CTBP1 MKS1 TRAPPC9 FGF20 EPG5 SHH AMER1 NEK1 RET ZSWIM6 GPC3 MED12 CC2D2A FKRP FGFRL1 SPOP TGDS RPGRIP1L CPLX1 FOXA2 TGIF1 B3GLCT PROKR2 IL1RN MSX1 B3GALT6 SUMO1 CDON CPLANE1 GREB1L PIGG EVC2 CHUK LMX1B POLR1D SMC1A INTU COLEC11 DVL1 RPL5 BCOR WDR35 GDF11 EFNB1 LETM1 SLC29A3 IL1B GRHL3 NIPBL NSDHL NBN CTNND1 PROP1 MSX2 HESX1 PORCN POLR1B POMT2 ITGA8 RIPK4 ASXL1 EVC FAM20C IQSEC2 FRAS1 PTCH2 LHX4 PHF8 DVL3 KRAS OTX2 FKTN POMT1 POU1F1 VAX1 WNT3 TAPT1 JUP RPS19 POLR1C PHGDH PAX3 NAA10 FZD2 TCTN3 LARGE1 CILK1 HP_PURSED_LIPS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PURSED_LIPS MYLPF LIFR HSPG2 NALCN MYH3 HP_GLOSSITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLOSSITIS LMBRD1 MMACHC P4HA2 SLC39A4 HLA-B SLC46A1 AMN SLC6A19 CUBN PTPN22 CLTRN HLA-DRB1 HP_TRIANGULAR_MOUTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRIANGULAR_MOUTH NXN ERCC2 TFAP2B ROR2 SNRPN DVL1 LAMB2 COLQ PIGA BUB1B INPP5E WNT5A PPP1CB DVL3 KIF7 GTPBP2 NCAPG2 HP_TRISMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRISMUS SF3B4 PSAT1 EDNRA MYH8 TPM2 CRLF1 GBA PHGDH PNKD COL2A1 MYMK PRRT2 HSPG2 LIFR HP_GINGIVAL_OVERGROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GINGIVAL_OVERGROWTH NXN LMNB1 GTF2I GNPTAB PIGA SH3PXD2B FGFR2 SLC35C1 TBC1D2B GTF2IRD1 DVL1 CLIP2 ABCC9 FAT4 ZNHIT3 RMRP CNTNAP1 ABHD11 PLG ROR2 SC5D SLC17A5 ELN C1S SLC29A3 FAM20A KCNH1 EMC1 GLB1 ANTXR2 EIF4H FIP1L1 IDS CCBE1 MAN2B1 IER3IP1 RIN2 LAT2 FAM20C STX1A AIMP2 ZBTB16 DDR2 NEU1 MAP1B TBCK ASXL3 ZEB2 NABP1 WNT5A MGAT2 RARA BUD23 PLAGL1 LBR BCOR METTL27 OSTM1 ATG7 NFIX TBL2 NPM1 ATP6V1B2 LIMK1 ABCA5 CLDN3 TBC1D24 BAZ1B MYSM1 MMP14 FGF3 GUSB C1R ADAMTS2 KCNMA1 DVL3 TMCO1 KCNK4 KCNN3 KIF1A TBL1XR1 PIGS PIGN DHCR7 STAT5B RALGAPA1 USP9X ADAMTS3 KCNJ6 GTF2IRD2 EXTL3 PRKAR1A SOS1 AFF3 NCF1 RFC2 HYMAI FKBP6 INSR GNAQ COL3A1 CLDN4 DNAJC30 AGA IDUA VPS37D MLXIPL VPS13B REST MMP2 FZD2 PRMT7 TMEM270 CD96 BCL7B NUMA1 STAT3 PML IRF2BP2 HP_THICK_UPPER_LIP_VERMILION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICK_UPPER_LIP_VERMILION APC GPC4 SC5D KDM4B TOE1 NOG NAA10 WDR26 THOC6 MINPP1 COL11A1 PAK3 ABCC9 DENND5A TWIST2 BRCA1 RPS7 VPS51 STRADA EBF3 NSUN2 HP_XEROSTOMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_XEROSTOMIA SIM1 DCTN1 PON2 ANG PPARGC1A HLA-DRB1 PON1 TAF15 SLC12A2 SQSTM1 CCN2 SOD1 CHMP2B CFAP410 MAGEL2 GLE1 FGFR2 ATXN2 PON3 C9orf72 GLT8D1 OPTN ERBB4 FGF10 FGFR3 EPHA4 CLDN10 CHCHD10 IRF5 TREM2 UBQLN2 UNC13A DAO TARDBP FIG4 VAPB TP63 NOD2 EDARADD NEFH FUS PRPH HNRNPA1 GSN MATR3 TBK1 VCP CCR6 CAV1 LBR NEK1 ANXA11 CCNF SCN9A CHRM3 PFN1 HP_HIGH_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_PALATE ATR ATP7A A2ML1 CCDC32 PIGA DIS3L2 CCDC47 SELENON NUP107 SLC18A3 TPM3 PUS7 KMT2D HPGD DPM1 B3GALT6 VPS51 HNRNPK APC RAB23 KANSL1 TPM2 TCTN3 DLL1 TDGF1 WDFY3 PAX7 PPP2R5D RPS6KA3 SMOC1 IER3IP1 ADAM22 BRAF TBX4 NAA10 GATA1 ANKRD11 CBL MSTO1 PEX3 MAP2K1 MAP1B SIX3 CHRNE SIN3A PEX12 SOS2 KCNK9 MYO9A SC5D RAPSN EYA1 PLXND1 FOXH1 MYH7 CHRNA1 FGF8 KCNMA1 TUBB3 SOS1 RPS27 DOK7 ERCC4 MAP2K2 CHST14 MYLK MIR140 CLCF1 SDHC DBH HACD1 GRIP1 HUWE1 PIGN FIG4 NRAS KCNJ2 NOTCH3 GLI2 OTUD6B FAT4 SIK3 KBTBD13 ARCN1 FGFR2 PDHX NDUFA8 CHRND PAK3 VAC14 ZNF699 HNRNPU TWNK PHIP CDT1 STAT3 ERCC2 PQBP1 YARS2 CTNNB1 LMNA RPS29 PTPN14 RPS10 AP1S2 ZDHHC9 OSGEP CREBBP HYMAI INSR TGIF1 PUM1 ZIC2 CNTN1 CD79A PEX19 RRAS2 CLP1 SETBP1 AEBP1 YWHAE COG5 GBA SLC25A1 MTM1 CD96 PTEN CNOT1 PTCH1 RPS24 DISP1 SMAD4 JARID2 SPEG COL13A1 RECQL4 BICRA NEB RERE UBE3B PPP1R21 SHH PIGB RAB3GAP2 ZMIZ1 DVL1 ATRX SLC2A10 BRCA2 CEP152 COG1 IGLL1 MPLKIP KDM5C CDC45 HSD17B4 CDK10 PGAP2 ORC4 KIAA1109 NSD1 GSC CHAT ANTXR1 SHOC2 NODAL RAB18 HRAS RRM2B CTBP1 NONO SVBP RRAS SMARCA2 CDH11 AFF4 TANC2 MYPN FGFR3 MED27 POLR1B BRD4 TARS1 MTX2 RUNX2 SDHD ATG7 FBN1 SLC39A13 HNRNPH2 ATN1 COL6A1 PMM2 PTDSS1 SPTBN4 SLC12A6 SIX1 FANCB IGF1R SYNGAP1 H19 TAB2 SMG9 ERLIN2 AMER1 DDR2 SMC1A DPYSL5 CASK ERMARD GFPT1 SATB2 KCNN3 STAG1 DOCK3 CFL2 QRICH1 ADAT3 ATP6V1E1 CPT2 ARHGEF2 GLE1 POLR1C KCNH1 AP4M1 SEC24D TRMU MRPL12 VPS13B NEK9 RTL1 LAMB2 EDEM3 BRCA1 TBX1 SATB1 MN1 G6PC3 RAD51C RPS28 GPC4 RIT1 BMP2 PIGL RPL18 PEX1 SLC25A24 ESCO2 RAF1 KMT2A CHRNG PEX26 TRIP12 OCLN TRIO PPP2CA MYL2 IBA57 NSDHL SMC3 TCOF1 SLX4 ABL1 ATP6V0A2 NCDN MID1 BMP4 HPDL FGFR1 TRIP4 RNF113A ARID2 TGFBR1 MAPK1 CBS ARID1B SEC23A MADD LMOD3 MFAP5 CUL4B MUSK FARSB HECW2 HS2ST1 ZC4H2 CDC6 PEX5 LOX SLC10A7 NEFL PLOD1 NEK1 NFIX ERCC3 ABCC6 PDE6D GPC3 SH3PXD2B COL6A3 RLIM WDR35 RPS26 GNE KCNJ6 TMEM216 DPYD ACTL6A DCHS1 LRP4 CHRNB1 MAPK8IP3 FLNB WNT5A TTN PIGW FOXP2 ANK1 KCNJ5 UBE2T TAF1 CRKL RAD51 TET3 FN1 ALG3 NOTCH2 USF3 CPLANE1 COL11A1 DDX6 PGM3 TGFB3 TGFBR2 STAG2 ZNF341 PAX1 DMXL2 EBP FANCE POGZ ZBTB24 SNAP25 MEGF8 MYH3 PIGT KDM6A PIEZO2 ACTA1 LMBRD1 KLHL7 FANCI DDHD2 MT-TN NUP88 DST SNRPB RPS19 SLC35A2 FANCL PSAT1 MYO18B MED12 NALCN TWIST2 OFD1 PYCR2 PIGY RPL11 SMAD2 SDHB RIN2 PRKG1 ARX LTBP2 MED13 MRAS TNNT3 FBN2 IGHM BIN1 LZTR1 MAT2A AKT1 SP7 RNASEH1 STAC3 SKI SMAD3 BRAT1 POR TCF3 MAP3K20 RAB3GAP1 RYR1 RET EFEMP2 ORC6 FANCD2 AP4S1 SNX14 WNT7A SHOX KMT2E NF1 PEX6 HDAC8 MYL1 GNB2 ADA2 KRAS COL12A1 ARL6 DDX59 GEMIN4 ECM1 TGFB2 SPTBN1 EFL1 DHX30 FAM20C DLK1 SCN4A PEX10 FREM2 EFNB1 GRIA4 MECP2 NUP188 PLAGL1 AIFM1 GNPAT GIPC1 MT-TE CHAMP1 ACTL6B MEGF10 RFWD3 HEY2 EP300 KLLN OBSL1 BPTF IGBP1 PEX16 PYROXD1 PTPN23 SMS TUBB RPS20 HSPG2 UBR7 GMPPB BBS1 WDR4 COL1A2 PPP1CB DPM2 PEPD SOX6 MED12L RPL26 COL3A1 GMNN MYLPF PUS1 SYT2 BCORL1 FH CDH2 KDM4B BCR ATP6V1A PSMD12 KLHL41 GTF2H5 AGO2 TASP1 RAD21 ITGA7 PURA PTPN11 SPECC1L COLQ RPL27 POLR1D RPS23 INTU SLC26A2 ORC1 TLK2 MYH11 CNTNAP1 WASF1 SET PIGH EIF2AK3 NIPBL ACTN2 UPF3B CDON SEC31A ATP6V1B2 ATAD1 NSUN2 SMCHD1 FANCA HERC1 LRRC8A RPL15 ACTA2 RUSC2 CCDC22 CNOT3 FRMPD4 SCARF2 TCF20 AASS MYOD1 LGI4 TBC1D24 DPAGT1 MOGS KIF7 KAT8 AP4B1 MYMK PIGU PLAA GTF2E2 TBCK RPL31 PEX2 SIAH1 USP9X MEG3 FANCF PEX14 IGF2 ZNF292 CLTC TAF6 SRY MAP3K7 KIAA0753 COPB1 REV3L FZD2 TRMT1 CSNK2A1 WASHC5 TRAPPC4 AGRN RPS17 MAMLD1 SLC5A7 FBXW11 MYT1L THOC2 FOXL2 ENPP1 TFAP2A RPS15A WDR73 EXOSC9 MYCN COX14 FOXE3 SPEN MYBPC1 SLC6A17 NTNG1 GATA4 RPL35 PIGV RPL35A POLR2A FBXL3 SLC12A2 AP4E1 TBC1D20 CCDC28B ADARB1 TSR2 WARS2 GAS1 GATAD2B MCM3AP PIK3CA IRX5 XRCC2 TWIST1 SHANK3 TMCO1 RPL5 TOE1 PCLO ZMPSTE24 ALDH6A1 TOGARAM1 ELN CTNND2 RBM10 MED13L DSE SPOP TGDS COL5A1 YY1 IFT122 FANCC HBA2 COL2A1 FAM149B1 PAH PIK3R1 FLCN ANOS1 SEMA5A MED25 SMARCD1 ALG2 PGAP3 MAD2L2 PALS1 AK9 ALG14 PEX11B FLNA BCOR COX6A2 PCGF2 SLC17A5 DLG3 CD79B DHPS GNB1 PRMT7 FUT8 CRLF1 HSPA9 COL6A2 MINPP1 SON ASXL3 SPRED1 TNNI2 IFT140 RPS7 EIF4A3 TRPS1 KPTN FRAS1 UBA1 MYH2 ODC1 CHD3 BLNK MESD PIGO DVL3 LIG4 SEC23B SNRPN HYOU1 VAMP1 NTNG2 HBA1 EXOC7 PEX13 EXOC6B YARS1 PAFAH1B1 SURF1 BMPR1A DDX11 MT-TS1 MKKS CDK19 RASA2 CHST3 HTT FANCG CTU2 TNRC6B BRIP1 LAGE3 FANCM PALB2 EPG5 LRP12 HP_THIN_UPPER_LIP_VERMILION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIN_UPPER_LIP_VERMILION GAD1 RNU4ATAC SIM1 RPL10 SMPD4 TRPS1 KIF11 GNB2 BMP2 HERC2 CCNQ GATAD2B VPS51 AMMECR1 SLC25A24 MAN1B1 SPEN ROR2 KMT2A TAF13 EXOSC2 ANKLE2 DDB1 TNRC6B BPTF MCTP2 ZNF41 PIGG OTUD6B TRMT10A PIGV PPP2R5D SLC9A7 PHC1 CENPJ ADSL DCPS KDM1A RHOBTB2 SPTBN1 METTL5 ZNF81 PYCR2 NAA10 SMC3 FRMPD4 CPLX1 CHD2 AGL ATIC AGTR2 PTCHD1 MID1 CDK13 ADARB1 PITX2 ARX MBD5 SNRPN PPM1D RNF135 FTSJ1 PAK3 WARS2 DPF2 CNOT2 SHMT2 SLC6A1 MCPH1 TCF20 ARID1B PIEZO2 TRAPPC9 ATP6V1B2 NALCN SYT1 IRF6 CHST14 CDK6 SMARCB1 CDC42 MAGEL2 FOXG1 KCNJ2 RAD21 COG1 ACTB CEP152 KCNMA1 UBE3B SEC23A MAF SASS6 SMARCC2 SYP NDN TRAPPC14 DLG3 DVL1 WDR19 ASPM PPP1CB PPP1R15B PIGN CTCF UNC80 ADNP SH3PXD2B MAPK8IP3 MTOR HK1 PQBP1 CTNNB1 GLIS3 DPM2 DSE SMARCA2 NONO EXT1 MED12L MED13 GNE AFF3 HUWE1 CREBBP AP3B1 SYNGAP1 WNT5A PDGFRB KIF15 PUF60 TAF1 KCNJ5 FAR1 AP2M1 DYRK1A B3GLCT PIGQ SLC26A2 FBN1 CDH2 CRKL CLP1 SMARCD1 BCR NEXMIF OGT ALG12 PSMD12 OCA2 WAC DMD KIF14 OCRL HDAC8 TASP1 WDR62 IFT43 SCN1A POGZ CLCN6 ACSL4 ARID1A ZNF711 CNKSR2 CACNA1C TBL1XR1 MID2 STIL SOX4 ARID2 RAI1 SPECC1L SMAD4 PDE4D ARHGEF6 ATRX PURA ACTG1 RAB39B PCGF2 COPB2 CDK10 OPHN1 GDI1 MFSD2A KDM5C RPS6KA3 SMARCE1 LMBRD1 NIPBL ALG13 STAG2 PACS1 CEP135 MECP2 MPC1 USP27X PBX1 PACS2 EP300 ASXL3 CDH11 TMEM94 AFF4 TUBGCP2 SMARCA4 SLC2A1 LAS1L EXOC2 MYO18B MED12 AGO2 SMC1A KAT6A TSPAN7 MAPK1 ANKRD17 BCL11A CEP63 SNORD116-1 CDK5RAP2 ANKRD11 ATN1 PIGK TRRAP BCL11B SETBP1 PMM2 TBC1D24 SETD5 IQSEC2 ODC1 IGF1R STEEP1 PIGU POLR3A ADGRG6 KNL1 ALG9 EBF3 KDM3B IL1RAPL1 NOG PWRN1 PTRH2 UPF3B RALA USP9X KATNB1 SATB2 MKRN3 OFD1 PWAR1 QRICH1 CLCN4 ARHGEF2 VPS35L ZNF292 CLTC CIT TAF6 NPAP1 PRKDC NCAPD3 HCFC1 EIF5A CSNK2A1 EDEM3 PGAP3 NFIA SNORD115-1 SOX11 HS2ST1 ZBTB18 HP_VELOPHARYNGEAL_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VELOPHARYNGEAL_INSUFFICIENCY SF3B4 CDH1 MSX1 TP63 BICRA THOC6 IRF6 RLIM TBX1 DLG1 GRHL3 DGCR6 NEK1 UBB ARHGAP29 ESS2 DGCR2 TUBB6 RAI1 SIAH1 NECTIN1 DGCR8 DLX4 BMP4 HP_FURROWED_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FURROWED_TONGUE PIK3CA RAB3GAP2 TMEM107 KRT6A TMEM67 SDHC TMEM216 RERE TCTN1 SDHB B9D1 INSR B9D2 TMEM231 PTEN GJB2 CSPP1 HNRNPK GJB6 SEC23B ECEL1 RAB3GAP1 CC2D2A TCTN2 TCTN3 SOX5 SLC39A4 USF3 SDHD MKS1 AKT1 KDM5C TXNDC15 RPGRIP1 MED25 RPGRIP1L IL36RN KLLN ABCC9 TMEM237 CEP290 HP_ABNORMALITY_OF_TASTE_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_TASTE_SENSATION RETREG1 SLC39A4 KIF1A WNK1 ELP1 SCN9A HP_GINGIVAL_BLEEDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GINGIVAL_BLEEDING C1R ITGA2B F2 GP1BB MYD88 FGA GP1BA F7 MPL LYST F5 ADAMTS2 GBA WIPF1 CAT WAS TET2 FGB IFNG TBL1XR1 STAT5B F13A1 F10 GP9 ELMO2 FIP1L1 PRKAR1A SERPINF2 HPS1 FGG ZBTB16 KIF23 F8 NABP1 ITGB3 LMAN1 TERC MCFD2 BLOC1S3 TERT F13B SBDS RARA PRF1 JAK2 IL18BP BLOC1S5 BCOR SCARB2 NUMA1 NPM1 FCGR2C STAT3 PML IRF2BP2 C1S HP_GINGIVITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GINGIVITIS SAMD9 KRT6A CYBC1 SRP54 STAT3 GFI1 ALMS1 PLG NCF4 COL3A1 LYST ELANE NCF1 CAT CTSC FERMT1 B4GALT7 ITGB2 NCF2 PLEKHM1 SLC37A4 TCIRG1 SLC6A19 CD40LG OCRL IRF9 CYBA CYBB CLTRN HP_THIN_VERMILION_BORDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIN_VERMILION_BORDER RNU4ATAC KMT2E TRPS1 CCDC32 HMGA2 HDAC8 IARS2 GNB2 HERC2 GATAD2B LMNA SLC45A1 VPS51 AMMECR1 MAN1B1 METTL23 TAF13 EXOSC2 NDP ANKLE2 DDB1 TNRC6B BPTF MCTP2 WDFY3 SMAD4 OTUD6B PPP2R5D SLC9A7 PHC1 CENPJ DCPS RHOBTB2 SPTBN1 METTL5 PYCR2 NAA10 GATA5 TXNL4A FRMPD4 XYLT2 AGL NEXMIF ATIC PTCHD1 CDK13 SIN3A ARX GRIA4 MGAT2 SC5D NKX2-5 PPM1D ACTL6B SLC6A1 KCNMA1 MCPH1 PYCR1 SYT1 NKX2-6 CHST14 HUWE1 FIG4 KCNJ2 COG1 ACTB PTPN23 SMARCC2 UBR7 SYP NDN TRAPPC14 DLG3 DVL1 WDR19 STXBP1 PPP1CB PIGN PAK3 VAC14 HNRNPU CTCF UNC80 ADNP PHIP MAPK8IP3 MTOR PQBP1 CTNNB1 GLIS3 DPM2 EXT1 ADSL MED12L MED13 RUNX2 CREBBP HPDL KIF15 ZBTB18 PUF60 TAF1 FAR1 COL3A1 AP2M1 DYRK1A MYLPF BCORL1 FBN1 CDH2 KDM4B CLP1 BCR SNRPN PSMD12 CD96 UBE2A NF1 DMD KIF14 OCRL AGO2 TASP1 WDR62 SCN1A CLCN6 ACSL4 ZNF711 RAD21 TALDO1 CNKSR2 CACNA1C JARID2 CCNQ TBL1XR1 MID2 ARID2 SPECC1L UBE3B SCYL2 RPS23 PDE4D ZMIZ1 ATRX GDF1 PURA ACTG1 WASF1 RAB39B CDK10 SRCAP GDI1 ARID1B TBCE KDM5C RPS6KA3 NOTCH2 NIPBL GLI1 ALG13 LMX1B STAG2 ZBTB16 PACS1 GLUL MECP2 MPC1 USP27X CITED2 PBX1 PACS2 SVBP SMARCA2 CDH11 LIG4 TMEM94 AFF4 TANC2 MED27 BRD4 KAT6A CNOT3 CEP63 SNORD116-1 PIK3CD CDK5RAP2 MED12 TCF20 ATN1 DDRGK1 PIGK PMM2 TBC1D24 SETD5 IQSEC2 KAT8 IGF1R MYMK PIGU RPL10 SYNGAP1 EVC2 KMT2A SMC1A PWRN1 KDM5B UPF3B RALA KDM1A USP9X KATNB1 SATB2 MKRN3 DOCK3 LEMD3 PWAR1 QRICH1 CLCN4 ARHGEF2 ZNF292 CLTC XRCC4 GJA5 TAF6 B3GLCT KNSTRN NCAPD3 JAG1 EIF5A TRMT1 TWIST2 CSNK2A1 EDEM3 TRAPPC4 PGAP3 NFIA SATB1 FBXW11 SOX11 HS2ST1 MADD GAD1 MYT1L SIM1 SMPD4 TBX1 KIF11 BMP2 KIF7 DYNC2LI1 SLC25A24 SPEN ROR2 NTNG1 GATA4 ZNF41 PIGG TRMT10A PIGV RAB3GAP1 ZNF81 SMC3 CPLX1 CHD2 SLC12A2 AGTR2 MID1 ADARB1 PITX2 MBD5 RNF135 FTSJ1 WARS2 DPF2 FLT4 CNOT2 SHMT2 PIEZO2 SEC23A TRAPPC9 CKAP2L ATP6V1B2 NALCN IRF6 CDK6 SMARCB1 CDC42 MAGEL2 FOXG1 HDAC4 CEP152 TTI2 PUS7 MAF SON SASS6 ASPM PPP1R15B ZMPSTE24 SH3PXD2B HK1 DSE SPOP NONO GJA1 RLIM GNE AFF3 ACTL6A AP3B1 ALG1 WNT5A PDGFRB KCNJ5 HS6ST2 PIGQ SLC26A2 CRKL SMARCD1 FMR1 OGT ALG12 PRMT7 OCA2 WAC IFT43 POGZ ARID1A PALS1 STIL SOX4 RAI1 SMOC1 SHOC2 ARHGEF6 EVC KCNE5 PCGF2 COPB2 OPHN1 MFSD2A SMARCE1 LMBRD1 BMP1 CEP135 TRIP12 EP300 ASXL3 TUBGCP2 SMARCA4 SLC2A1 LAS1L EXOC2 MYO18B TSPAN7 MAPK1 ANKRD17 BCL11A ANKRD11 NBAS TRRAP BCL11B SETBP1 ODC1 DPYSL5 STEEP1 POLR3A ADGRG6 KNL1 DDX6 ALG9 EBF3 KDM3B IL1RAPL1 GATA6 NOG NTNG2 PTRH2 ZFPM2 OFD1 THOC6 BRAT1 VPS35L ERCC6 CIT NPAP1 HTT PRKDC HCFC1 PPP2R3C SNORD115-1 HP_ABNORMALITY_OF_THE_FONTANELLES_OR_CRANIAL_SUTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FONTANELLES_OR_CRANIAL_SUTURES ERCC2 ATR ATP7A FOXE1 PEX6 B3GALT6 PIGA LEMD3 TENT5A FGFR2 ERF FBN1 HPGD ALX4 BMPER RTL1 HNRNPK PEX13 RBBP8 RAB23 KANSL1 HOXD13 PEX10 DDB1 ALG9 MMP23B PEX3 PPP2R5D SH2B1 ABCC8 RPS6KA3 SPTBN1 P4HB FGFR1 NAA10 FAM20C BANF1 SPEN MAN2B1 SMAD3 MAP1B DMP1 ZEB2 CTSK PEX12 FAM111A EFNB1 TSHB COG4 CENPE LMOD3 POU1F1 NUP188 PLAGL1 AIFM1 GNPAT ERCC1 ALDH18A1 PYCR1 MSX2 CRTAP CHST14 KCNJ11 MIR140 CWC27 RAC3 OTUD5 AKT1 FIG4 COL11A1 NOTCH3 RERE PRKCZ PEX16 SLC35A2 CYP27B1 HSPG2 FAT4 PEX5 SMO COLEC10 SLC26A4 DVL1 LHX3 RSPRY1 STXBP1 PPP1CB VAC14 ZNF699 HNRNPU CTCF ZSWIM6 MEG3 CDT1 MED12 STAT3 FGFR3 MTOR GLIS3 TWIST1 ADSL COL1A2 ATP6V0A2 HUWE1 MEGF8 AGTR1 HYMAI ASXL1 GMNN KIF7 DPH1 PPP2R1A PEX19 SETBP1 ZIC1 ATP6V1A REN MMP2 PPIB POR FLNA GTF2H5 SETD1A CHUK ENPP1 TALDO1 RECQL4 KLHL41 SEC24C CYP2R1 PURA PAX8 BICRA SPECC1L PPP1R21 NEB IYD B3GAT3 COMT COX5A DONSON INTU SLC5A5 PSAT1 JMJD1C DCHS1 ORC1 TLK2 MPLKIP PTCH1 TSHR CDC45 ORC4 UBR1 ANTXR1 GCK SLC39A8 RUNX2 NOTCH2 LMX1B HRAS NSUN2 CDKN1C SHPK AFF4 HERC1 SLC34A3 IFT52 SETD2 UBE4B PDX1 TARS1 MTX2 CCDC22 FREM1 KAT6A PLK4 HIRA SCARF2 PIEZO2 AASS ADAMTSL1 ETFDH TBX1 TBC1D24 PTDSS1 GPX4 TCIRG1 KRT14 LRP2 H19 KCNQ1 BCL11B CREBBP SMG9 GTF2E2 TBCK ZMPSTE24 AMER1 KDM5B PEX2 TGFBR2 B4GALT7 DPYSL5 PIGO ETFB CEP120 RBM10 ERMARD ALG8 ZNF462 NKX2-1 WDR19 EXTL3 SKI GLI3 ATP6V1E1 P3H1 ACE LMNA PEX14 IGF2 ZNF292 PLOD2 ARVCF PAM16 SEC24D B3GLCT KLHL40 TPO COL1A1 COL11A2 NSMCE3 RREB1 LRP5 CEP57 EP300 WASHC5 EXOC8 CDK8 PDPN CDH11 AHDC1 CCNQ POLR3A MYCN PEX1 SLC25A24 ESCO2 NKX2-5 MVK ROR2 NPHP3 SC5D ATRIP INPPL1 PEX26 SLC2A10 KCNQ1OT1 RTTN IFITM5 IFT43 SMC3 ACTB MYH3 LHX4 TBCE CHST3 POLA1 SCN9A TNFSF11 ADARB1 BMP4 ACTG1 APC2 GORAB MASP1 ETFA SNX10 RNF113A ARID2 TGFBR1 NFIX MAPK1 CDC6 SEC23A CLCN7 ATP6V1B2 AGT PEX11B IRX5 PROP1 SMAD6 MAP3K7 TRAIP MAF PCNT SON TMCO1 COLEC11 PTEN CYP26B1 DUOX2 ERCC6 ERCC3 HESX1 TOGARAM1 SOX9 PPP3CA ADAMTS3 SH3PXD2B LUZP1 DSE GJA1 YY1 KDM4B IFT122 ALG1 WNT5A TANC2 USP7 FLNB PHEX PIGQ ARX SMARCD1 DDX6 IL11RA LEMD2 KDELR2 GNPTAB EBP SCUBE3 GPC6 WDR35 TCF12 PIGT NSD1 BMP1 KRT5 NLRP3 THRA SIX2 VARS1 CCBE1 MBTPS2 KCNAB2 VDR NEPRO ASXL3 TG CEP152 KIF1A IFT140 ACTA1 RETREG1 AGO2 BPNT2 KPTN ALPL IL6ST ANKRD11 MMP14 HSD17B4 MESD DPF2 HNF1B ASPA ADAMTS2 SLC12A6 UFD1 LIG4 RNU4ATAC CASZ1 PRDM16 DUOXA2 INS LHX1 CENPJ SP7 TAPT1 GP1BB ERCC5 RPS19 ATRX VPS35L RNF125 CTSD CHD4 FKBP10 NDE1 ORC6 FOXG1 PDGFRB GABRD DLK1 WNK1 KRAS HP_ABNORMALITY_OF_THE_ANTERIOR_FONTANELLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ANTERIOR_FONTANELLE ATR PEX1 FAM111A PEX6 PEX12 COX5A POLR3A PEX11B KIF7 ATP6V0A2 MYCN ORC1 RTL1 SLC25A24 EBP PEX13 ROR2 CDC45 ZIC1 PEX16 PEX10 UBR1 ALG9 ANTXR1 PEX26 PEX3 PPP2R5D RPS6KA3 NLRP3 SIX2 VARS1 PEX14 FLNA HRAS PEX2 SMC3 BANF1 TBCE PEX19 NSUN2 NEPRO COL1A1 CTSK FGFR3 PEX5 COG4 MASP1 ETFA PLAGL1 RUNX2 ANKRD11 PIEZO2 CRTAP ETFDH MIR140 COL11A1 LRP2 TWIST1 H19 ASPA ADAMTS2 COL1A2 SEC23A CREBBP LIG4 RNU4ATAC SMG9 FAT4 AMER1 DVL1 DPYSL5 MEG3 ETFB MED12 SOX9 FGFR2 SH3PXD2B MTOR GLIS3 INTU GLI3 ATP6V1E1 SKI P3H1 DCHS1 VPS35L ATP7A IGF2 HYMAI WNT5A POR TSHB B3GLCT PIGQ SETBP1 COL11A2 ATP6V1A NSMCE3 MMP2 EP300 ARX DLK1 CHUK TALDO1 HP_SMALL_ANTERIOR_FONTANELLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_ANTERIOR_FONTANELLE ATR MYCN PLAGL1 ORC1 HYMAI RNU4ATAC VARS1 HP_HYDROCEPHALUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYDROCEPHALUS LARGE1 NF1 NRAS KIAA0586 EML1 B3GALT6 BUB1B SIX3 CCDC88C CFAP221 ERF KRAS FBN1 SUFU TRPV4 PTCH1 FGFR1 RNASEH2A FANCB KIF7 MBTPS2 TNFRSF11A RSPO2 DLL1 TDGF1 FGF8 CRB2 FGFR3 DHCR24 CEP41 ZIC2 SPTBN1 BRAF P4HB ERCC2 DAG1 FAM20C CENPF DNAJB13 TCTN1 CYP26C1 MAN2B1 RPGRIP1L HBA1 PRKAR1A PIK3CA SUMF1 COX7B ARL13B TMEM237 FOXH1 ODAD1 INPP5E GPC4 TUBB3 PTEN RFWD3 RSPH3 PYCR1 ZNF423 CBY1 ARL3 ERCC4 MAP2K2 ERCC3 PDGFB RAC3 CCDC39 FIG4 GUSB MKS1 FGFR2 TBX15 USP7 GLI2 BAP1 SLC13A5 TSC1 SHH SIK3 TSC2 CEP83 PAK3 VAC14 DNMT3B DNAH11 HNRNPU GPC3 MED12 ARSB TRIM71 FKRP POMGNT2 FGFRL1 FANCL CPLX1 COL18A1 TMEM67 VANGL2 AP1S2 GAS8 B9D1 CEP120 CLIC2 HCCS TGIF1 VANGL1 GBA DPH1 PPP2R1A DISP1 MTM1 MPDZ POR ROGDI FLNA DNAH5 RPGR TXNDC15 B4GAT1 SEC24C SLC2A1 BICRA ERCC5 SOX2 L1CAM B3GAT3 AHI1 COMT TMEM138 RSPH4A JMJD1C DNAAF2 BRCA2 RAD51 POMT1 CDC40 PLG PTCH2 TCTN2 DNAH9 KIAA1109 POMK SLC29A3 DENND5A CFAP43 AKT3 NODAL NOTCH2 CSF1R KMT2D DNAAF4 COL4A1 B3GALNT2 TTC12 GALC WDR81 HRAS CDON CTNNB1 B9D2 NSUN2 CRPPA ZBTB20 FANCA HERC1 CCND2 DHCR7 CCDC65 PORCN IDUA STIL FUZ CCDC22 CEP290 DNAI1 NEK10 FOXJ1 OSTM1 KANSL1 HIRA PIBF1 PPP1CB SMO MTRR TBX1 PTDSS1 CC2D2A TMEM216 TCIRG1 B4GALT1 GCDH PIGU LMBR1 DLL4 ODAD3 MAP2K1 FKTN DNAAF3 RASA1 WNT3 POMGNT1 HSPG2 SKI FANCF NOTCH1 CSPP1 KDM6A PIK3R2 CTSK GMPPB ARVCF UNC45A SEC24D ALG13 B3GLCT CCL2 POMT2 PRDX1 RREB1 ERCC6 WASHC5 BRCA1 VSX1 RXYLT1 OGDH TBXT LRRC56 CILK1 RAD51C TENT5A RBPJ FLVCR2 LAMB1 TMEM231 EOGT ODAD2 POLR3A EBP ARMC9 HYLS1 SLC25A24 ESCO2 GLI3 ZNHIT3 TYROBP MFN2 HELLS TCTN3 MTHFR NSD2 PIGV IDS AKT1 SLX4 CHST3 TRNT1 NDUFB11 CCNO TNFSF11 DRC1 GAS1 CEP104 SNX10 ERCC8 FTO RECQL4 CLCN7 SPEF2 MUSK XRCC2 STAG2 GFAP PPP2R5D CDCA7 TREM2 AMER1 GPSM2 SOX9 SMARCB1 HDAC6 TRAF7 KDM4B COG6 FANCC RSPH1 UBE2T EPHB4 HBA2 NME8 NEU1 ODAD4 DNAAF11 CFAP298 IFT43 HYDIN MAD2L2 TMEM107 ZPR1 KDELR2 TAF2 CTBP1 DNAH1 SMOC1 SMC1A SHOC2 ZIC3 MMACHC FANCE NF2 SLC17A5 CPT2 ZBTB24 MCIDAS LETM1 DCC RPGRIP1 FANCI DNAAF1 IFT172 CFAP300 SAMD9 FANCD2 SMARCE1 SPAG1 CPLANE1 ZMYND10 TGFBR1 KATNIP OFD1 TP53 DNAL1 GAS2L2 SF3B4 FRAS1 ARHGAP31 DNAI2 TERT DNAAF6 VPS33A UFD1 LIG4 MAF RSPH9 KIF1A CCDC40 CCDC103 TGFBR2 GP1BB PEX19 RNF125 GNAQ DNAAF5 PIEZO2 DOCK6 FANCG MT-CYB NPHP1 FAM111A BRIP1 MC1R FANCM PALB2 STK36 HP_PARIETAL_BOSSING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARIETAL_BOSSING SUFU PTCH2 KRAS PTCH1 POLR3A PTPN11 FGFR3 RUNX2 HP_TRIGONOCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRIGONOCEPHALY RB1 FGFR1 LMNB1 MYSM1 GLI3 HUWE1 CD96 ACTB LMNB2 FGFR2 DPF2 ASXL1 USP7 ASXL3 CHD4 ZIC2 ARHGEF9 DPM1 ACTG1 FREM1 DPH1 PTCH1 EFTUD2 IFT140 NUP188 PLOD1 PDHX FLCN C2CD3 MEGF8 FRMPD4 ADNP PPP3CA FLI1 DPM2 MSX2 SLC6A9 IL11RA HP_BRACHYTURRICEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRACHYTURRICEPHALY SKI FAM20C FGFR2 FGFR1 RECQL4 SP7 FHL1 PEX1 MSX2 SYT1 HP_ABNORMAL_PARANASAL_SINUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PARANASAL_SINUS_MORPHOLOGY TNFRSF13B SH3KBP1 NF1 CD19 MGP ALX3 CFAP221 HLA-DPA1 ODAD2 NFKB2 DNMT3B TAP1 DNAAF1 TAPBP RSPH1 TAP2 IVNS1ABP IL2RG DNAAF2 NME8 RFXANK DNAL1 DNAJB13 MAN2B1 ALX1 RFXAP ADA AGA IRF2BP2 CCNO ICOS CTSK RSPH9 DRC1 CCDC40 SBDS DNAAF3 CFI CCDC65 NCF2 ODAD1 TNFRSF13C SFRP4 RSPH3 CYBB PIK3CD SPEF2 FLNA CCDC39 CCDC103 PNP CD79B CIITA AMER1 CFAP298 ALMS1 DNAH11 LRRC8A FCGR2A UNC119 WAS CFTR CFAP300 ADA2 ODAD4 DNAAF11 GAS8 RSPH4A CYBC1 DNAJC21 HLA-DPB1 BTK TRIM37 ATRX NEK10 TGFB1 CR2 NCF4 EFL1 PSMB4 PIK3R1 RFX5 CD79A MCIDAS PDE4D NOTCH2 KCNJ2 DNAH5 RPGR PRKCD PGM3 HYDIN ATM RNF168 NFKB1 PRTN3 DNAH1 COL5A1 MAGT1 IGLL1 DNAH9 FUCA1 COL5A2 ELANE RUNX2 DNAI2 DNAAF4 IGSF3 SIX2 TTC12 SPAG1 FMR1 SMCHD1 DOCK8 USB1 DNAAF6 FOXJ1 PSMB9 ZMYND10 SRP54 DNAI1 IKBKB IL21R STXBP2 PSMB8 PRKAR1A CYBA MDM4 GAS2L2 IGHM BLNK IL17RA RAC2 WIPF1 NBN NCF1 ODAD3 LRBA ACP5 COL11A1 PTPN22 TCF3 DNAAF5 STK36 FCGR3A OFD1 CTLA4 CXCR4 LRRC56 IRF8 HP_BRACHYCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRACHYCEPHALY EXT2 TENT5A HDAC8 CNOT3 SATB1 CDH11 BUB1B GNB2 CCDC47 ERF PIGL POR RAI1 DEAF1 TECPR2 TNFRSF13B PEX1 PHF21A SLC25A24 ESCO2 RAB23 ZIC1 FLII SPOP ICOS ALG9 MMP23B CD81 RAF1 FOXF1 OTUD6B FGFR3 PIGV POLR2A ADSL FGFR2 ACOX1 FAM20C SMC3 TCOF1 SPEN MAN2B1 RAB18 CHST3 PRKAR1A AGA ATIC FKTN ADARB1 BMP4 EFNB1 MGAT2 MBD5 TCF12 PIGY DDX3X TMCO1 NIPBL TCF20 RECQL4 ARID1B ALDH18A1 TRAPPC9 MSX2 ATP6V1B2 NALCN SYT1 CHST14 CD19 RAB3GAP2 MIR140 SNRPN RAC3 IRX5 TBX2 GRIA3 USP7 TWIST1 RERE PRKCZ FGFR1 UBE3B ZBTB20 SMS MAF BRAF TUBB CYP26B1 STXBP1 NANS PCLO SPECC1L ZSWIM6 ADNP EHMT1 SH3PXD2B PQBP1 MED13L LUZP1 SRD5A3 INTU GJA1 TTC8 PTCH1 ZDHHC9 HUWE1 TNFSF12 SUFU PIGW FUCA1 FKBP10 B3GLCT DPH1 HDAC4 TET3 MMP2 WAC RBM8A AUTS2 NFKB1 POGZ PGAP3 TGFB3 RAD21 IL11RA TBL1XR1 KDELR2 B3GAT3 NFKB2 POLR1D NGLY1 PDE4D USP9X HCFC1 UPF3B RNF216 RMRP PTCH2 PCGF2 CDK10 PGAP2 UNC80 NOVA2 MEGF8 PIGT GBA RUNX2 LMX1B CR2 HSPA9 MBTPS2 KCNAB2 KIDINS220 NEK1 DSE LIG4 FHL1 UBE4B POLR1B BRD4 FBN1 ANKRD17 IQSEC2 NBAS WASHC5 SKI PTPN11 ADAMTSL1 ALX1 MMP14 MTX2 SETBP1 TBC1D24 SLC12A6 SETD5 MESD MED12 HSPG2 PIGO GATA1 UBE3A LRPPRC CASZ1 FBN2 PRDM16 AMER1 SMC1A MECP2 ADAMTS10 GALNT2 PTRH2 DPYSL5 COL11A1 KDM1A RALGAPA1 PTH1R TNFRSF13C SP7 TAPT1 ATP7A ZC4H2 ALX4 MS4A1 STAC3 POLR1C PNPLA6 TBC1D20 CTSK XRCC4 PRKCD CTU2 RAB3GAP1 LRP5 MN1 GABRD PDPN TDP2 SATB2 KMT2C HP_PROGRESSIVE_MICROCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_MICROCEPHALY SLC2A1 SEPSECS SMPD4 NDUFS1 MDH1 FAR1 CDC42 AMPD2 ZNHIT3 ACBD5 MED17 FOXG1 COG1 ERCC6 ATP6V0A2 EXOSC3 SCN8A SLC25A22 TRAPPC6B ALG9 RNASEH2A MFSD2A COG8 PLAA PCDH12 CDC45 EFTUD2 CC2D1A WWOX SLC1A4 STAMBP PCLO GRIA2 IQSEC2 POMK CASK VPS53 TSEN54 PNPO ASNS CNP SPTAN1 ERCC8 ALG12 DPM2 VARS1 ATP6V1E1 MPC1 SLC25A19 SNAP29 EXTL3 ALG1 BRAT1 SLC39A14 TSEN15 QARS1 PUS3 PYCR2 TOE1 RARS2 PTRH2 TSEN2 MECP2 ZSWIM6 PAFAH1B1 TUBGCP2 RNASEH2C CLP1 MGAT2 CDKL5 ATP6V1A GLYCTK GOT2 ACO2 PNKP EMC1 RNF113A CCDC88A TSEN34 ARFGEF2 TREX1 COG7 PPT1 HP_WIDE_ANTERIOR_FONTANEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDE_ANTERIOR_FONTANEL PEX1 PEX6 PEX12 COX5A PEX11B KIF7 ATP6V0A2 RTL1 SLC25A24 EBP PEX13 ROR2 CDC45 PEX16 PEX10 ALG9 ANTXR1 PEX26 PEX3 PPP2R5D SIX2 HRAS PEX2 PEX19 NSUN2 NEPRO COL1A1 FGFR3 PEX5 COG4 MASP1 ETFA PIEZO2 CRTAP ETFDH MIR140 PEX14 COL11A1 LRP2 TWIST1 ADAMTS2 COL1A2 SEC23A CREBBP LIG4 SMG9 FAT4 DVL1 MEG3 ETFB MED12 SOX9 FGFR2 SH3PXD2B MTOR GLIS3 INTU GLI3 SKI P3H1 DCHS1 VPS35L WNT5A POR TSHB B3GLCT PIGQ SETBP1 COL11A2 NSMCE3 EP300 FLNA ARX DLK1 CHUK TALDO1 HP_TURRICEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TURRICEPHALY TBX1 SEC24C RAB23 GPX4 ERF COMT FGFR2 POR FGFR1 JMJD1C SLC12A6 PEX1 UFD1 SLC25A24 PEX5 FERMT1 MEGF8 ACP5 FGFR3 SP7 GP1BB ALG14 ZIC1 SOX6 TWIST1 SKI KDM4B FAM20C ARVCF SEC24D FHL1 RREB1 P4HB HIRA MN1 RECQL4 MSX2 SYT1 IL11RA HP_OXYCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OXYCEPHALY FGFR2 TWIST1 RAB23 MEGF8 ZIC1 SOX6 HP_ABNORMALITY_OF_THE_MASTOID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MASTOID RAG2 PAX1 TPP2 RAG1 CDH11 DLX3 NBN SLC39A14 HP_MASTOIDITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MASTOIDITIS RAG2 PAX1 TPP2 RAG1 NBN SLC39A14 HP_CRANIAL_ASYMMETRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRANIAL_ASYMMETRY CPLX1 RNF135 SPECC1L CTBP1 NRAS AKT3 HRAS LETM1 POLR3A PIK3CA NSD2 FGFRL1 MAF PEX19 KRAS HP_DOLICHOCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DOLICHOCEPHALY NSD2 RPL10 TBX1 TFAP2A SLC35D1 CNOT3 DIS3L2 GNB2 FBN1 HERC2 INTS1 INPPL1 HNRNPK MAN1B1 ALX4 GLI3 MVK KMT2A PEX10 CHRNG OBSL1 PEX3 EXOC6B PPP2R5D HGSNAT ALG14 IDS ITCH PEX14 SPTBN1 BRAF GATA5 IFT43 SLX4 SMAD3 NELFA KPTN FKTN TWIST1 AKT1 APC2 TBC1D7 NKX2-5 MGAT2 PTH1R FLT4 SHANK3 RFWD3 BLM MADD ERCC4 SLC6A9 NKX2-6 RELN PEX11B TRAIP FGFR2 XRCC2 FIG4 KCNJ2 CTBP1 NOTCH3 PEX26 DLX3 PEX6 NDN PTEN PEX5 ERGIC1 ARCN1 NFIX VAC14 ARSB WDR19 SOX6 COL5A1 YY1 WDR35 IFT122 TMEM216 FANCC TRIM37 KIF15 KCNJ5 MSL3 UBE2T ATP6V1B2 SLC3A1 CNTN1 DPH1 CCDC8 RAD51 SNRPN ADH5 MAGEL2 GATA4 PIGG IFT52 PEX13 TGFB3 IL11RA MAD2L2 DYM PEX1 BICRA SNAP29 PEX12 PREPL KMT2E ATRX BRCA2 C12orf57 DMXL2 PRPS1 GDF1 FANCE CNTNAP1 PEX16 CPLX1 NSD1 ERF NOTCH2 ZNF142 RYR1 CUL7 FANCI RAF1 PEX2 CITED2 PEX19 ASXL3 FANCA SETD2 MYH3 FANCL IDUA IFT140 AGO2 PI4KA ALPL IL6ST TGFB2 SNORD116-1 RAB39B NPR2 KDM6B HSD17B4 TAB2 FANCB EBF3 GATA6 FBN2 PWRN1 KDM5B ORC4 VDR ERMARD ZFPM2 RNU4ATAC MKRN3 OFD1 PWAR1 SKI FANCF LETM1 GJA5 KCNK9 FGF9 NPAP1 FANCG JAG1 CEP57 BRCA1 BRIP1 FANCD2 MN1 IFT81 SNORD115-1 FANCM PALB2 KRAS RAD51C HP_PROMINENT_OCCIPUT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_OCCIPUT TENT5A TBC1D24 MOGS KDELR2 CNOT3 PIGA DLL3 LFNG FLNB RIPPLY2 KIF7 PHGDH KCNQ1 MYCN KAT6B KRAS RNU4ATAC ALX4 SMG9 NID1 GDF11 PIGN ATP7A HRAS ERF MED12 KCNQ1OT1 NOTCH2 TBX6 ITCH WDR19 FLNA SOX6 GLI3 CNOT1 MESP2 MBTPS2 HYMAI CDKN1C TOR1A IGF2 IFT52 CTSK NRAS TWIST1 HES7 IFT43 PSAT1 B3GALT6 CCDC22 IFT122 PLAGL1 WASHC5 WDR35 IFT81 TFAP2B ATP6V1B2 RELN CHUK HP_DELAYED_CRANIAL_SUTURE_CLOSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_CRANIAL_SUTURE_CLOSURE ATP7A BICRA FAM111A PPP1R21 IYD FGFR2 POLR3A SLC5A5 POR ATP6V0A2 SPEN GLI3 ROR2 ZIC1 MMP23B ANTXR1 RPS6KA3 NLRP3 ALDH18A1 PEX14 FLNA NAA10 KCNAB2 SMC3 BANF1 ACTB LHX4 TBCE NSUN2 TG CTSK ACTG1 UBE4B TSHB POU1F1 MTX2 RUNX2 ANKRD11 FAM20C SKI CRTAP CHST14 PTDSS1 HSD17B4 PROP1 RERE PRKCZ H19 ASPA ADAMTS2 HSPG2 SEC23A ALG9 MAF CREBBP LIG4 AMER1 CASZ1 LHX3 DUOX2 PRDM16 DUOXA2 HESX1 MED12 SH3PXD2B FGFR3 PEX19 LUZP1 ATP6V1E1 ZMPSTE24 P3H1 RPS19 IGF2 RNF125 USP7 TPO TWIST1 ATP6V1A MMP2 LMNA EP300 PDGFRB GABRD PDPN DDX6 HP_FACIAL_GRIMACING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_GRIMACING PNKD PANK2 PLPBP GLI3 EP300 GATAD2B ALDH7A1 ATXN8OS CP SLC13A5 CREBBP PDE2A HP_SMALL_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_FACE MYT1L KMT2E LRP6 CCDC32 GTF2I CFL2 GTF2IRD1 LMNA TRIP11 TUBB4A AP4E1 RBBP8 SLC9A6 NTNG1 ATRIP TPM2 BCOR WNT10A WDFY3 TSPAN7 TRMT10A EDARADD PAX9 TPM3 MSX1 NSDHL TCOF1 CHST3 SLC12A2 SIN3A APC2 GRIA4 CENPE EYA1 GRHL3 ACTL6B METTL27 KCNMA1 TBL2 SEMA3E BLM PQBP1 LMOD3 HUWE1 TRAIP HS2ST1 RYR1 SATB2 BPTF UBE3B PUS7 PTPN23 SMS PCNT UBR7 KBTBD13 GHR NFIX PPP1R15B ATR SOX9 MYH3 SLC6A8 RLIM ZDHHC9 NCF1 ACTL6A ATP7A CHRNB1 RFC2 MAPK8IP3 HPDL DNAJC30 BCORL1 KDM4B PSMD12 DSTYK MTM1 CHD7 BCL7B KLHL41 AGO2 SELENON RECQL4 PALS1 JARID2 TBX1 NEB B3GAT3 POLR1D NGLY1 TGFA ZMIZ1 WRN CLIP2 FGFR1 UPF3B WASF1 ABHD11 FBXL4 IRF6 UBB ERCC4 NSD1 ELN RUNX2 EIF4H LAT2 CENPT STX1A FMR1 PBX1 TRIP12 NSUN2 SVBP CEP152 ACTA1 FBN1 TANC2 SETD2 MED27 FGFR3 POLR1B MAP2K2 SUMO1 MED12 BUD23 NALCN PLK4 CNOT3 LIMK1 TCF20 CLDN3 FLNA BAZ1B SIX1 KAT8 DPYSL5 SLC16A2 AXIN2 DDX6 MYH7 MYPN LIG4 MED13 TNNT3 NOG HYOU1 NTNG2 NOTCH3 TNNI2 B4GALT7 CENPJ GTF2IRD2 NHS DOCK3 DDX11 POLR1C TBR1 FKBP6 WNT10B INSR CLDN4 HTT VPS37D MLXIPL TNRC6B STRADA TRMT1 TMEM270 TRAPPC4 EDA SATB1 STEEP1 FBXW11 PAX3 MADD HP_NARROW_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_FACE PALS1 JARID2 TPM2 MYT1L TBX1 KMT2E CCDC32 GTF2I NEB UBE3B CFL2 NGLY1 GTF2IRD1 LMNA ZMIZ1 WRN TRIP11 SLC9A6 CLIP2 TUBB4A UPF3B AP4E1 WASF1 ABHD11 FBXL4 RBBP8 NTNG1 ATRIP BCOR ERCC4 NSD1 ELN WDFY3 TSPAN7 TRMT10A KLHL41 EIF4H LAT2 CENPT TPM3 NSDHL STX1A FMR1 PBX1 TRIP12 NSUN2 SLC12A2 SVBP RLIM CEP152 ACTA1 FBN1 TANC2 SIN3A NFIX SETD2 MED27 APC2 GRIA4 MAP2K2 CENPE EYA1 MED12 BUD23 NALCN PLK4 CNOT3 ACTL6B METTL27 KCNMA1 TBL2 SEMA3E BLM LIMK1 TCF20 CLDN3 PQBP1 LMOD3 BAZ1B SIX1 HUWE1 KAT8 TRAIP DPYSL5 HS2ST1 RYR1 SATB2 BPTF SLC16A2 PUS7 DDX6 PTPN23 MYH7 MYPN SMS PCNT LIG4 MED13 UBR7 KBTBD13 TNNT3 NOG HYOU1 NTNG2 PPP1R15B NOTCH3 ATR TNNI2 CENPJ GTF2IRD2 MYH3 NHS DOCK3 SLC6A8 ZDHHC9 NCF1 ACTL6A ATP7A CHRNB1 RFC2 MAPK8IP3 HPDL FKBP6 CLDN4 DNAJC30 HTT VPS37D MLXIPL BCORL1 KDM4B TNRC6B PSMD12 STRADA DSTYK TRMT1 MTM1 TMEM270 CHD7 TRAPPC4 BCL7B SATB1 STEEP1 FBXW11 AGO2 PAX3 SELENON MADD RECQL4 HP_RETROGNATHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETROGNATHIA GAD1 RPL10 EXOSC1 RTL1 ZNHIT3 DIS3L2 FBN1 EYA1 SLC18A3 PUS7 EBP KIF7 SLC35A3 INTS1 HYLS1 SLC25A24 FOXE3 SPEN ROR2 DDB1 ALG9 COL1A1 RSPO2 C2CD3 ESS2 FBXW11 OCLN FOXF1 OTUD6B CRIPT SELENON EMC1 RTTN TGFB2 SMOC1 IBA57 FBXL3 TGFB3 NAA10 NSDHL ACTB TCOF1 RARB TELO2 SMAD3 CHST3 KPTN TBX1 NDUFB11 POLA1 WNT5A SIN3A KCNK9 BMP4 ACTG1 HPDL RSRC1 MYO9A MGAT2 MBD5 ADAMTSL2 PSAT1 FOXE1 NUP188 EZH2 PLAGL1 ASXL2 FTO EED RNF113A CSGALNACT1 ARID2 NFIX EP300 ARID1B DGCR8 HEY2 SLC6A9 RELN CHST14 PSMD12 MYLK TMEM70 NSMCE2 OTUD5 PAX1 ERF MIA3 ZC4H2 CDC6 IGBP1 ABAT MYMK LOX MRPS22 SLC10A7 PCNT DVL1 ARCN1 MADD ERCC3 PIGN ZNF699 MEG3 ZMPSTE24 ATPAF2 TRIP11 CDT1 COL13A1 FARS2 ADAMTS3 ELN ERCC2 CTNND2 LMNA DSE ASPH HDAC8 DPYD COG6 HYMAI FDFT1 ASXL1 TTN ORC1 MFAP5 PUF60 HBA2 MSL3 GMNN TAF1 MYLPF SLC3A1 SYT2 ITGA8 FOXP1 CEP55 SETBP1 DSTYK COG5 SLC25A1 PRMT7 ORC6 GTF2H5 SEMA5A TASP1 MED25 ARNT2 COG7 SMAD4 BRCC3 SPEG TGFBR2 SIX1 UBE3B B3GAT3 POLR1D PREPL INTU RPL5 HCCS CEP152 AP3D1 FAT4 MYH11 MPLKIP MTM1 ZBTB24 WDR35 ORC4 SNAP25 CHAT MEGF8 DGCR2 ADAMTS2 WBP11 COL3A1 FUT8 CCBE1 NUP88 NBN GLI3 POLR1A CTBP1 AGRN TPM2 NEPRO ASXL3 FHL1 ACTA2 CRPPA POLR1B TGFBR1 EDN1 TARS1 CANT1 EIF4A3 DGCR6 SMC1A KAT6A FRMPD4 BCL11A ATG7 BNC2 MAGEL2 DLK1 ALG11 OFD1 FAM20C CDC45 SF3B4 LGI4 PMM2 TMEM107 MOGS ATP6V1A HSD17B4 SMAD2 MYH7 ODC1 IGF1R MESD SUZ12 POLR3A ACTA1 PRKG1 SIM1 PHGDH DHCR24 DVL3 GLDN CREBBP GTF2E2 PIK3C2A RYR1 SNRPN VAMP1 AMER1 BIN1 AUTS2 MAT2A HBA1 EXOC7 CEP120 LTBP4 YARS1 RNU4ATAC SLC29A3 RBBP8 SKI RPS19 GLE1 THOC6 DYRK1A SIX5 POLR1C COL1A2 CRLF1 NSD1 CEP135 SEC24D PIEZO2 CENPJ BLM SPATA5 IGF2 COX7B CTU2 NARS1 FZD2 EDEM3 TCTN3 MAMLD1 TRIP4 SLC5A7 CCDC88A FANCB GBA HS2ST1 KAT6B HP_COARSE_FACIAL_FEATURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COARSE_FACIAL_FEATURES FOXE1 FMR1 NF1 GPC4 GTF2I CNTNAP2 PIGA CCDC47 KCNJ8 SH3PXD2B KRAS PIGL SUFU TBC1D2B SLCO2A1 GTF2IRD1 HPGD AP4E1 ABCC9 SPEN NKX2-5 DYM GPR101 PAX8 MCTP2 PIGV AP4S1 KCNQ1OT1 HEXB HGSNAT CLCN4 RPS6KA3 IDS ANTXR2 INSR SPTBN1 BRAF NAA10 ACTB EXTL3 GALNS MAN2B1 CTSA PUS3 TBCK GLB1 GNPTG AGA AIP SNX14 ACTG1 SUMF1 APC2 TBC1D7 NAGLU MBD5 FBXO31 MED12 PIGY LAMTOR2 DPF2 ARX AIFM1 FTO RNF113A ARID2 METTL27 MAPK1 TBL2 ARID1B COL2A1 XYLT1 MAP2K2 ATP6V1B2 SMARCB1 GLA ZNF148 WDR26 OTUD5 PIGN IDUA GUSB MAP3K7 P4HTM PIGF SLC26A4 NANS PIGS ERCC3 ZNF699 GPC3 ARSB STAT3 AP4M1 ERCC2 EXT2 KAT6B AP1S2 GNE NCF1 THPO RFC2 AP3B1 PHF6 PIGW SMARCC2 KIF15 CLIC2 FUCA1 FAR1 SVBP DNAJC30 IGF2 BRCA1 HNRNPK PIGQ PIK3C2A NAGA SETBP1 SMARCD1 HDAC4 MMP2 BCORL1 GNS NOTCH2 NEU1 WAC BCL7B GTF2H5 MPL PTCH1 ARID1A PGAP3 ADNP SOST SOX4 TMEM251 PPP1R21 GNPTAB MEN1 ACER3 SLC35C1 PIGB PDE4D MCOLN1 GJA1 ATRX C12orf57 CLIP2 MRPS34 FLNA MPLKIP ABHD11 BSCL2 PGAP2 SLC17A5 WDR81 EHMT1 NSD1 ELN DENND5A KCNH1 SMARCE1 CNP EIF4H RIN2 LAT2 HRAS STX1A PACS2 CDKN1C FHL1 SLC35A2 SETD2 DNMT3A SMARCA4 TARS1 BUD23 TSHR MAGEL2 AFF4 LIMK1 ABCA5 CLDN3 PTCH2 TBC1D24 BAZ1B AP4B1 MYSM1 TCF4 MMP14 PIGO ALG14 KCNQ1 VPS33A PLAA L1CAM GTF2E2 MAP2K1 KCNN3 AIMP1 CEP120 NKX2-1 SGSH GTF2IRD2 OFD1 FKBP6 CHD4 CLDN4 VPS37D KLHL15 MLXIPL TMEM270 RBMX SOX11 HS2ST1 CUL4B NMNAT1 HP_FACIAL_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_EDEMA WT1 PLCE1 NUP133 PSPH RECQL4 COL1A1 GTF2I IYD PRTN3 CDH11 MYD88 MYO1E HLA-DPA1 SLC35C1 GTF2IRD1 NUP37 KNSTRN SLC5A5 NEU1 CLIP2 ALB SERPING1 ABCC9 ACTN4 NPHS1 ANGPT1 ZNHIT3 ABHD11 SOX18 NUP93 GPR101 CAMTA1 DNMT3B APOL1 ELN SLC29A3 KNG1 NUP160 IGSF3 EIF4H ADAMTS3 CCBE1 SPTBN1 RIN2 LAT2 DAAM2 STX1A CD2AP CRB2 ACTB NPHS2 LHX4 ANLN TG SNX14 ACTG1 PSMB9 TSHB SUMF1 AIP NUP107 COL5A1 POU1F1 KCTD1 PLG COL4A3 NUP85 BUD23 TRPC6 PIEZO1 KAT6A KPTN METTL27 F12 TBL2 SHANK3 PIK3CD LIMK1 EPHB4 CLDN3 SMCHD1 MYOF PAX2 PEX2 PTPRO BAZ1B NUP205 PROP1 GNPTAB ADAMTS2 MAGI2 FRMD4A GAPVD1 PEX5 LHX3 DUOX2 DUOXA2 TBC1D8B KIF1A HAVCR2 HESX1 TNFRSF1A LTBP4 GTF2IRD2 PTPN22 HS3ST6 MED12L DUX4 NCF1 HLA-DPB1 RFC2 FKBP6 CLDN4 DNAJC30 ANAPC1 VPS37D GSN PSMB4 ARHGAP24 MLXIPL TPO ANKFY1 INF2 POMP COL5A2 TMEM270 EMP2 ANTXR1 COQ8B CTLA4 BCL7B FOXG1 ARHGDIA FRG1 HP_BROAD_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_FACE PTCH2 PTCH1 HDAC4 BRAT1 ZNF711 TBL1XR1 RAI1 NFIA SUFU IDUA AGA FLNA PDE4D FLNB SNX14 UBE2A TGFB3 HP_EPICANTHUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPICANTHUS EXT2 COL1A1 NF1 PEX6 RTL1 GTF2I BUB1B SIX3 COLEC10 ZNHIT3 DIS3L2 ALX3 KCNJ8 FAT4 KCNH1 ADA2 POU3F3 KRAS PUS7 PEX1 INTS1 FGFR1 VPS51 BMPER EBP RAB23 KANSL1 SPOP DDB1 TCTN3 ALG9 MMP23B DNAJC21 BPTF RERE MED25 ZNF469 DHCR24 ZIC2 RHOBTB2 BRAF DHX30 NAA10 GATA1 SPEN QARS1 PEX3 MAP2K1 MAP1B PRKAR1A ZEB2 PEX10 CDK13 SIN3A PEX12 WDR37 COG8 SC5D B9D2 NUP188 SOX18 PLXND1 NXN CHAMP1 TBL2 GPC4 SHANK3 TUBB3 RPS27 RFWD3 DYNC2H1 PQBP1 ERCC4 MAP2K2 SYT1 MIR140 TUBB GATA2 CTBP1 PRKCZ ACTB PEX16 NSDHL MAN1B1 RPS20 SHH VEGFC PEX5 WDR4 SALL4 DVL1 RSPRY1 PDHX MADD NANS RET PPP1CB PIGN DNMT3B HNRNPU CTCF ROR2 EFTUD2 MEG3 GPC3 PHIP MED12 DVL3 FGFR3 ERCC2 FGFRL1 GLIS3 RPS29 CPLX1 COL18A1 RPS10 PTCH1 OSGEP NCF1 HUWE1 CREBBP KIAA0586 CERT1 FOXL2 FDFT1 ATRX RPL26 SUFU ZBTB18 TAF1 COL3A1 DNAJC30 BRCA1 MAB21L2 PIK3C2A DPH1 CD79A DISP1 PEX19 UGDH DNMT3A FLT4 COL5A2 HELLS FGF8 CD96 CHD7 BCL7B GREB1L GTF2H5 CNOT1 PTPN11 HIC1 TASP1 SETD1A RPS24 SEPTIN9 SHROOM4 RECQL4 SEC24C TBX1 BICRA SPECC1L UBE3B PPP1R21 RPL27 BUB1 COMT RPS23 PREPL RAB3GAP2 COL5A1 MAPRE2 ALG2 JMJD1C DCHS1 BRCA2 PURA IGLL1 TLK2 MPLKIP CNTNAP1 FBXL4 PTCH2 WDR35 CDK10 PGAP2 GDF11 TRAF7 SHOC2 ELN ADAMTS2 RYR1 EIF4H RAF1 HRAS MPC1 SOS1 GJA1 PBX1 ABCC9 NSUN2 FANCA LIG4 LRRC8A RPL15 IFT52 DHCR7 UBE4B MYH3 STIL TARS1 CDCA7 BUD23 ITGA8 KAT6A GJC2 PLOD1 DHX16 HIRA DLK1 GLI2 PIEZO2 CLDN3 HNRNPH2 SOX5 ATN1 PMM2 TBC1D24 KIF7 FANCB MYMK PIGU RPL10 TBX4 HSPG2 GTF2E2 TBCK KMT2A CPLANE1 PDE4D RPL31 AMER1 PEX2 AUTS2 MECP2 SIAH1 PUF60 RALA CASK ZNF462 TONSL ADAT3 FANCF CHRNA1 PEX14 ZNF292 COL1A2 CHRNG XRCC4 ARVCF LETM1 TOE1 SRY AFF2 FGD1 MRPL12 KIAA0753 CBL RREB1 EIF5A REV3L CEP57 FZD2 LZTR1 EP300 CSNK2A1 RPS6KA3 EDEM3 TMEM270 RPS17 ALX4 PDPN HS2ST1 RAD51C NSD2 FIBP RPS28 SMPD4 ZMIZ1 RPS15A KIF11 WDR73 DLX4 BUB3 HIBCH PIK3CA EXOSC9 CHRNA7 PIGL GTF2IRD1 RPL18 MYCN KAT6B PHF21A OFD1 GATA4 CAMK2A RPL35 PEX26 TRIP12 TWIST2 PIGV TRMT10A RPL35A NFIX LONP1 PPP2CA DYNC2I1 HOXB1 FANCC STAG2 SLX4 ATP6V0A2 ALX1 NELFA TPRKB IFT80 NCDN WNT5A TSR2 ACTG1 ADAMTSL2 IFT43 DYNC2I2 EEF1A2 B4GALT7 PIGY MASP1 PIEZO1 EED GATAD2B DOCK3 EZH2 RNF113A TMCO1 ARID2 METTL27 MAPK1 ALDOA TCF20 SEMA3E XYLT1 FGFR2 TRAPPC9 ATP6V1B2 CUL4B ZNF148 HECW2 XRCC2 TBX2 INPP5E PPP1R12A PPP1R15B FGF20 ABCA5 SON AHI1 COLEC11 RPL5 YWHAE ERCC3 PDE6D ALDH6A1 ADAMTS3 CTNND2 HK1 MED13L LUZP1 CHRND SMARCA2 WDR19 NONO KAT8 RPS26 IFT122 GNE COG6 RFC2 AP3B1 PIGW ANK1 HBA2 SVBP MSL3 FAM149B1 UBE2T SLC3A1 PAH PIK3R1 SLC26A2 ARID1B RAD51 NOTCH2 SEMA5A DDX6 PIGG PGAP3 MAD2L2 PALB2 RB1 GNPTAB AMACR PEX11B CLIP2 DMXL2 FANCE RMRP ABHD11 NRAS ZBTB24 SLC17A5 UNC80 CD79B MEGF8 KDM6A DYNC2LI1 ACOX1 WAC TBX22 LMBRD1 PRMT7 FANCI SIX2 FLNA CCBE1 MAN2B1 ALG3 LAT2 STX1A KCNAB2 SCN4A MINPP1 DDR2 TMEM216 PAFAH1B1 ASXL3 UQCC2 SPRED1 SNRPB RPS19 SLC35A2 MLXIPL FANCL RPS7 AGO2 BCL11A LIMK1 NBAS SKI TRRAP KDM6B BCL11B BAZ1B RPL11 COA3 HSD17B4 CHD3 BLNK NR2F1 UGP2 PIGO BMP2 VPS33A UFD1 TRIO EBF3 SPART CASZ1 PRDM16 IGHM KIF1A HBA1 NOTCH3 SLC25A24 C12orf4 VPS53 PEX13 SOX4 CSPP1 YARS1 FLI1 GTF2IRD2 GP1BB ALG12 TMEM237 DDX11 THOC6 BRAT1 COL11A1 FKBP6 TCF3 CHD4 CLDN4 VPS37D TRIP13 FANCG PNPLA6 TWIST1 GPC6 KCTD1 FOXG1 BRIP1 FANCD2 CCDC88A SNX14 GABRD UBE3A FANCM RIC1 WNT7A RIT1 HP_ABNORMALITY_OF_THE_PHILTRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PHILTRUM ATP7A RNU4ATAC TRPS1 CCDC32 SATB1 DIS3L2 SH3PXD2B NUP107 PUS7 GATAD2B EIF2S3 TRIP11 DPM1 VPS51 ALG13 METTL23 APC OBSL1 WDFY3 TRAPPC4 MRPS28 TSPAN7 GLI2 PPP2R5D ABCC8 RHOBTB2 SMOC1 BRAF NAA10 ANKRD11 SPEN XYLT2 MAP1B ZEB2 NEXMIF CDK13 SIN3A EXT2 KCNK9 SC5D EZH2 CSGALNACT1 NXN SLC6A1 KCNMA1 ATP6V1B2 KDF1 DYNC2H1 MAP2K2 CRTAP CHST14 MIR140 TMEM70 RAC3 HUWE1 PIGN FIG4 COL11A1 ZIC2 CTBP1 NOTCH3 CDON PRKCZ ACTB OTUD6B SYP SHH NALCN DLG3 STXBP1 VAC14 ZNF699 HNRNPU CTCF ROR2 MEG3 PHIP DOCK7 MED12 MAPK8IP3 MTOR PQBP1 YARS2 CTNNB1 GLIS3 EXT1 MED13 AP1S2 ZDHHC9 NCF1 CREBBP CERT1 FOXL2 KIF15 CLIC2 UGDH SETBP1 FBN1 CD96 UBE2A BCL7B CNOT1 SCN1A ACSL4 ZNF711 ADNP CNKSR2 EPB41L1 JARID2 TBL1XR1 MID2 ARID2 RERE UBE3B PPP1R21 B3GAT3 ACER3 COMT PIGB RAB3GAP2 PDE4D ZMIZ1 DVL1 ATRX SLC2A10 COG1 FAT4 PTCH1 WDR35 CDK10 PGAP2 SRCAP ELN ARID1B TBCE RPS6KA3 EIF4H LMX1B RAB18 PACS1 MPC1 NEB KIDINS220 USP27X NONO SVBP SMARCA2 CDH11 TOR1A TMEM94 AFF4 TANC2 FGFR1 MED27 BPTF BRD4 BUD23 KAT6A ATG7 HIRA PPP1CB CLDN3 HNRNPH2 ATN1 PMM2 TBX1 SETD5 FAR1 IGF1R HSPG2 PHGDH TAB2 BCL11B SLC26A2 POLR3GL TCF4 ERLIN2 MAP2K1 CAMTA1 SMC1A AUTS2 DPYSL5 DISP1 RALA CASK ERMARD MAB21L1 SATB2 USP9X DOCK3 EXTL3 QRICH1 ATP6V1E1 CLCN4 ARHGEF2 KIFBP KCNH1 AP4M1 VPS13B NEK9 RTL1 EDEM3 TMEM270 PDPN LTBP3 ZBTB18 RPL10 SMPD4 IREB2 KIF11 BMP2 PIGL RIPPLY2 POR DEAF1 PHF21A SLC25A24 KMT2A BCOR CHRNG ZNF41 TRIP12 OCLN NFIX EMC1 RTTN TRIO ITCH ADSL PPP2CA MESP2 ZNF81 HOXB1 PTEN SMC3 FGD1 ATP6V0A2 CHST3 NELFA CPLX1 CHD2 IFT80 PRKACA MID1 HPDL SNAI2 RNF135 FTSJ1 PAK3 TGIF1 METTL27 MAPK1 SIX3 CDC6 SEC23A MAP3K7 CKAP2L CUL4B MUSK PPP1R12A HS2ST1 RAD21 ZC4H2 TRAPPC9 SON CDKL5 PIGS SPECC1L CDC42 LUZP1 GJA1 RLIM KDM4B GNE KCNJ6 DPYD ACTL6A RFC2 AP3B1 WNT5A PIGW TAF1 B3GLCT PIGQ CCNK CRKL ALG9 TET3 ALG12 NOTCH2 PSMD12 INPPL1 DDX6 PIGG TGFB3 ARID1A COG7 ZPR1 DHX37 PRKACB SMAD4 SLC35C1 SHOC2 ARHGEF6 COX7B CLIP2 AP3D1 ABHD11 POGZ EFTUD2 MMACHC OPHN1 MYH3 PIGT LETM1 ACTA1 SMARCE1 COL3A1 IFIH1 SYT1 CCBE1 STX1A LARP7 CCDC22 PEX26 CCDC8 FREM1 EP300 MOCS2 SNRPB SLC35A2 HES7 DNMT3A SMARCA4 SLC2A1 EXOC2 MYO18B MYH8 CHSY1 NKAP ANKRD17 IQSEC2 PYCR2 FGF3 ABCC9 STEEP1 SUZ12 GNPTAB CLCF1 UFD1 IL1RAPL1 MAF GALNT2 IFT57 FGF8 GTF2IRD2 GP1BB TMEM237 METTL5 BRAT1 ERCC6 VPS37D BRF1 PRKDC HRAS RAB3GAP1 MAPRE2 PLOD3 GPC6 PPP2R3C PAX3 TCTN3 EED FOXG1 AP4S1 SNX14 PTH1R OFD1 LMNB1 KMT2E EXOSC1 NF1 GTF2I HDAC8 B3GALT6 BUB1B IARS2 LFNG KCNJ8 KRAS INTS1 SLC45A1 AP4E1 DDX59 MAN1B1 MEF2C EXOSC2 SPOP MMP23B MCTP2 MED25 UBR7 SLC9A7 SPTBN1 TXNL4A FZD2 FRMPD4 DLK1 PTCHD1 WDR37 KIAA0753 NECTIN1 ARX GRIA4 MGP CHAMP1 ACTL6B TBL2 KCNJ11 FBXO11 TUBB PTPN23 SMS KCNK4 WNT4 MADD FOXH1 WDR4 UNC80 DVL3 FGFRL1 DPM2 MED12L RUNX2 NODAL SMARCC2 PUF60 PDHA1 DNAJC30 DYRK1A BCORL1 SUMF1 CDH2 BCR ATP6V1A ANTXR1 DMD OCRL AGO2 TASP1 CLCN6 TALDO1 BRCC3 SEC24C PURA CAMK2G SOX11 JMJD1C LRRC32 ACTG1 WASF1 RAB39B GDI1 NOVA2 DENND5A KDM5C NIPBL CUL7 STAG2 RIN2 MECP2 SLC35A1 PBX1 PSMC3 DHCR7 UBE4B CSNK2B STIL CANT1 COL2A1 CNOT3 MAGEL2 PIEZO2 TCF20 TFAP2B AASS ADAMTSL1 MYOD1 PUS1 TBC1D24 KAT8 AP4B1 MYMK PIGU FLNA PLAA TBCK TPM3 ORC4 UPF3B ALG8 ZNF462 WDR19 FGFR2 ALX4 ERCC1 TBC1D20 TBR1 ZNF292 CLTC ARVCF PAM16 TDGF1 TAF6 CBL PRDX1 DLL1 RREB1 TRMT1 FBXW11 SUFU NSD2 GAD1 MYT1L TFAP2A PIK3CA GTF2IRD1 KIF7 RAI1 SLC6A17 NTNG1 FLII TENM3 PIGV PTPRF TRMT10A GLB1 DYNC2I1 SLC12A2 AGTR2 PITX2 COL11A2 DYNC2I2 PSAT1 PIGY DPF2 SHMT2 TMCO1 PARS2 BRPF1 XYLT1 SMARCB1 ZNF148 KARS1 IRX5 DLL3 GRIA3 TWIST1 SHANK3 PKDCC NFIB PCLO PPP1R15B ALDH6A1 MARS2 ADAMTS3 KAT6B DSE HDAC6 AFF3 SYNGAP1 MSL3 MOCS1 PAH SMARCD1 FLCN PRMT7 LRP4 GAS1 PGAP3 LEMD2 PALS1 C12orf57 ADAMTSL2 SOX4 NLRP1 AP2M1 COLEC11 TTC37 BMP1 CRLF1 LAT2 NBN KCNAB2 TNNI2 TUBGCP2 MLXIPL KLHL41 ALG11 LIMK1 NBAS TWIST2 SKI NSUN2 TRRAP MTX2 BAZ1B HSD17B4 RNF2 POLR3A UGP2 AVP PIGO EBF3 CASZ1 NOG PRDM16 NRAS NTNG2 KIT EXOC7 LTBP4 FLI1 MEIS2 THOC6 FKBP6 NSD1 CLDN4 HTT HCFC1 TNRC6B SMG8 GABRD IFT81 RIC1 HP_BROAD_PHILTRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_PHILTRUM SMARCB1 SMARCA2 TBL1XR1 SHH RAC3 SOX4 ARID2 SIX3 DPF2 AP2M1 PIGL COLEC11 PIGO FGFR1 MAF STIL PGAP2 WDR35 GLI2 DISP1 ARID1B ERMARD FGF8 SMARCE1 ZNF462 PIGV ALX4 ZIC2 SPTBN1 FGD1 SYNGAP1 CHD2 PIGW SMARCC2 KCNK9 CDH11 SNX14 SMARCA4 SLC2A1 SMARCD1 PIGY NEXMIF TMCO1 SLC6A1 SCN1A SOX11 PGAP3 ARID1A HP_ABNORMALITY_OF_THE_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FOREHEAD CCDC32 SATB1 MGP BUB1B TENT5A ALX3 CCDC47 CACNA1A NUP107 DPM1 KANSL1 FOS TCTN3 RERE WDFY3 MBTPS2 PHC1 CENPJ SMOC1 METTL5 IER3IP1 ADAM22 PYCR2 AGPAT2 ANKRD11 CBL SPEN MAP1B KREMEN1 ZEB2 NEXMIF CTSK SIN3A PEX12 ASPM SOS2 AIP ZSWIM6 FLNB FAM111A TWIST1 COG4 POU1F1 KCNA1 CSGALNACT1 NXN EDARADD KCNMA1 SOS1 GABRB2 MAP2K2 NTRK2 CHST14 MIR140 TRAK1 HUWE1 PIGN FIG4 COL11A1 NRAS KCNJ2 PRKCZ PLAG1 CYP27B1 PEX6 STAT6 TRAPPC14 PEX5 RSPRY1 VAC14 HNRNPU MEG3 DOCK7 MED12 PEX7 STAT3 RPS29 RPS10 LRP1 PTCH1 NCF1 KIF14 ATP7A CREBBP B9D1 INSR SUFU PUM1 RARS2 ZIC2 ATP6V1B2 HNRNPK DPH1 FAM149B1 SETBP1 YWHAE ZIC1 GNS KCNJ11 RPS24 UBA5 NAA10 JARID2 TBL1XR1 DMXL2 DNM1 BICRA ARID2 SLC35C1 PREPL GYPC PDE4D ZMIZ1 PLA2G6 CEP152 FAT4 POR PGAP1 WDR35 FUCA1 GDF11 ZNF711 SHOC2 ELN ARID1B EIF4H TTC7A PACS1 KIFBP ITCH B9D2 CDH11 CYFIP2 SLC34A3 FGFR3 MED27 H19 CRPPA IDUA FGFR2 BRD4 AARS1 FREM1 SCN3A MKS1 KDF1 DLK1 CDK5RAP2 GLI2 CLDN3 ATN1 PTDSS1 SETD5 TMEM216 ODC1 TBX4 HSPG2 SLC26A2 TCF4 WWOX SMG9 CC2D2A NKX2-5 FKTN TUBGCP6 DISP1 RALA D2HGDH PWAR1 ADAT3 POLR1C FBN1 CCND2 FGF10 PPP3CA AP4M1 UNC45A SEC24D INTS8 ABCC8 IGF2 VPS13B RTL1 EIF5A CEP57 TMEM270 NFIA MN1 RAF1 IL2RA CEP290 RAD51C RPS28 SMPD4 KIF11 BUB3 RIT1 RPL18 SLC25A24 ABCC9 ATP6AP1 STAT5B NFIX KCNQ1OT1 PTEN CDK6 TCOF1 FGD1 SLX4 LHX4 ALX1 TBCK ERF MID1 BMP4 ZFPM2 TRAF6 IFT43 MBD5 EED METTL27 SEC23A TRAPPC9 WDR62 CKAP2L NALCN RELN TSEN54 HS2ST1 HCN1 ZC4H2 CWC27 PUS7 SASS6 TUBGCP4 P4HTM PIGS PDE6D SPECC1L SUZ12 TFAP2A WDR19 GJA1 RLIM TAFAZZIN KDM4B RFC2 TRIM37 UBE2T TTC37 B3GLCT HS6ST2 SLC3A1 FGF13 KCNA2 SPTB FOXP1 DICER1 CTNND1 IFT122 BCORL1 PEX3 NEU1 INPPL1 DDX6 PIGG COG7 SOST SCN1A MEN1 DLX3 PRUNE1 KCNB1 KMT2E CLIP2 RMRP SCUBE3 SNAP25 OPHN1 PIGT LETM1 MFSD2A SMARCE1 IFIH1 GJA8 MITF VDR PEX26 TRIP12 EP300 MOCS2 RPS19 CACNA1B SMARCA4 FANCL EXOC2 SOX5 SMC1A BPNT2 ALPL KAT6A RBBP8 OFD1 ORAI1 SIX6 PIGY RPL11 DHDDS DPYSL5 ATAD3A ARX ACAN KNL1 ALG9 RNU4ATAC DDX59 FBN2 KCNN3 SNX10 SYNGAP1 SMC3 LZTR1 GALNT2 FGF12 SALL4 RALGAPA1 FGF8 SP7 TAPT1 GNE FMR1 SKI CIT HDAC6 SPTA1 NUS1 PRKDC RAB39B HRAS NARS1 SZT2 GPC6 HBB PPP2R3C TTI2 RNF113A FANCD2 CCDC88A LARGE1 BGN KAT6B SEPSECS TCTN2 LMNB1 EXOSC1 NF1 HMGA2 GTF2I KCNJ8 KCNH1 KRAS INTS1 AMMECR1 AP4E1 MEF2C EBP EXOSC2 SPOP DDB1 SYNJ1 AP4S1 SPTBN1 CASK PTHLH RAB18 FZD2 ATIC ADK PRKD1 PPM1D SLC16A2 NUP188 GNPAT CLTC RFWD3 PYCR1 MSX2 LRP4 FBXO11 GABRA2 OTUD5 EDAR ATP1A2 SATB2 BPTF PEX16 PTPN23 RPS20 LHX3 IGBP1 MADD UNC80 ADNP DVL3 RPGRIP1L PEPD SLC6A8 SOX6 LBR TMEM67 ATP6V0A2 KIAA0586 HPDL SMARCC2 ZBTB18 DNAJC30 DYRK1A MAB21L2 KIF7 SYT2 CCDC8 CDH2 PSMD12 ACTL6B ANTXR1 AGO2 TXNDC15 POC1A RECQL4 USP9X TBX1 SHH SLC9A7 RPL27 POLR1D CAMK2G GMNN INTU PSAT1 PURA ORC1 NAB2 WASF1 GPAA1 DENND5A ASNS AKT3 RUNX2 FLNA STAG2 PNKP CDKN1C FANCA SHPK BRAF RNF13 HERC1 DHCR7 NCAPH UBE4B FRMPD4 CEP63 MAGEL2 TCF20 GATA4 MYOD1 ETFDH LGI4 NPR2 KAT8 TCIRG1 AP1S1 GPKOW CPLANE1 PEX2 ZNF462 KATNB1 ALX4 FANCF PIK3R2 TBC1D20 WAC TBC1D24 ZNF292 XRCC4 KCNK9 TAF6 KIAA0753 NCAPD3 PRDX1 LRP5 P4HB TRAPPC4 SLC5A7 TSEN34 STXBP1 SMARCA2 THOC2 PSPH CNOT3 DLX4 BRWD3 CHRNA7 GRIN1 CCNQ GTF2IRD1 KNSTRN POLE NCAPD2 GPC4 NTNG1 RNPC3 TRIO FLII C2CD3 RPL35 TWIST2 TRMT10A RPL35A LMX1B RAB3GAP1 DYNC2I1 GLB1 SLC12A2 KPTN WNT5A GABRG2 ACTG1 TBC1D7 DYNC2I2 FLT4 ETFA XRCC2 TBX2 PROP1 DLL3 NUP133 FRMD4A TMCO1 AMER1 PPP1R15B ALDH6A1 SOX9 ADAMTS3 HK1 MED13L NONO YY1 HDAC8 FANCC PDGFRB APC PAH PIGL SMARCD1 FLCN MAD2L2 C12orf57 AP3B2 SOX4 LIFR AP2M1 COLEC11 PAK1 FOXC1 AP1S2 COL2A1 COPB2 FAM50A MAN2B1 LAT2 NBN B3GALT6 TUBGCP2 IFT140 RPS7 POMT2 TRPS1 ALG11 LIMK1 TAB2 CHD3 DPF2 CCBE1 COL1A2 SLC25A19 PUF60 LIG4 TRIP11 CENPE SNRPN VAMP1 INS LRP2 ACP5 LTBP4 FLI1 PAFAH1B1 DDX11 LARS1 VPS35L SMAD3 NSD1 CEP135 RASA2 NPAP1 FANCG IARS2 HOXD13 CTU2 BRIP1 GABRD SNORD115-1 FANCM PALB2 TONSL ERCC2 ATR A2ML1 DIS3L2 SH3PXD2B HERC2 SLC18A3 GATAD2B TRPV4 NDE1 CDH1 PEX13 TAF13 OBSL1 PPP2R5D STRADA CDK19 DHCR24 SLC13A5 GATA1 GATA5 QARS1 RBM8A EXT2 MYO9A TECPR2 SC5D EZH2 CNKSR2 SLC6A1 RPS27 ALDH18A1 DYNC2H1 ERCC4 SLC25A46 CTBP1 GPT2 CDKL5 SLC1A2 NDN EMG1 SIK3 CPOX NANS PAK3 ZNF699 CTCF ROR2 PHIP MTOR FKRP PHEX SIK1 GJA5 ZDHHC9 OSGEP BRCA1 TSEN2 PIK3C2A PEX19 RRAS2 DNMT3A ATP6V1A COG5 SLC25A1 UBE2A BCL7B CNOT1 PPARG ARID1A EPB41L1 PPP1R21 NTNG2 B3GAT3 SCYL2 ACER3 BUB1 PIGB COX5A RAB3GAP2 EPB41 DVL1 ATRX COASY BRCA2 GDF1 PTCH2 CHAT TBCE NHEJ1 GCK ZNF335 KIDINS220 CITED2 JAG1 SVBP RRAS AFF4 TANC2 PPP2R1A FGFR1 POLR1B PDX1 BUD23 SNORD116-1 SLC39A13 EEF1A2 PMM2 SLC12A6 FANCB SIM1 PHGDH TBX15 MAP2K1 CAMTA1 DDR2 PWRN1 KDM5B ETFB ERMARD MAB21L1 MKRN3 DOCK3 EXTL3 GLI3 CPT2 GLE1 GRIN2D RPS6KA3 SOX2 GHR PDPN KYNU CHD1 RPL10 KCNJ1 BMP2 POLR3A RIPPLY2 DEAF1 PEX1 TCF12 PIK3CA NPHP3 KMT2A EIF2S3 SERPINH1 OCLN PIGQ EMC1 RTTN NOTCH2 ADSL PEX14 KDM1A PPP2CA MESP2 ACTB ABL1 CHST3 NELFA CHD2 IFT80 LRPPRC COL1A1 NFKBIA RNF135 CYP2R1 MAPK1 SIX3 CDC6 STIL CELF2 FARSB HECW2 INPP5E EDA SPRTN ZBTB20 SON DOCK6 ERCC6 HESX1 CDC42 LUZP1 RPS26 DPYD ACTL6A DCHS1 ARV1 MAPK8IP3 KCNJ5 TAF1 ATP1A3 CCNK RAD51 TET3 SLC25A22 IL11RA TMEM237 TMEM107 ZPR1 VPS33B PRKACB ITGA3 COX7B THOC6 SCN2A FANCE ABHD11 NID1 MMACHC MEGF8 MYH3 NEUROD2 SYT1 NLRP3 FANCI VARS1 CAMKMT STX1A CCDC22 GABRA5 MRAS NEPRO HES7 SLC2A1 MYO18B ASXL1 ANKRD17 SETD2 IQSEC2 SKIV2L GNPTAB SCN8A VPS33A MED13 MAF YWHAG STAMBP POMT1 IFT57 IGF1 CSPP1 GTF2IRD2 RNF125 CTSD VPS37D EDA2R EFEMP2 FOXG1 STEEP1 SNX14 CUL4B ANKLE2 ZNHIT3 GNB2 LFNG ADA2 IKBKG GPR101 PEX10 MMP23B CRIPT UBR7 SH2B1 ATP6AP2 CAVIN1 TCTN1 CTNS WDR37 EFNB1 SUMF1 GRIA4 PTH1R AIFM1 ERCC1 PIGP TBL2 MCPH1 NKX2-6 MEIS2 KATNIP LARP7 CARS1 MAN1B1 KCNK4 WNT4 PPP1CB WDR4 COL13A1 FGFRL1 DPM2 CPLX1 MED12L RAI1 RPL26 PDHA1 FH MMP2 MPDZ OCRL HIC1 TASP1 SETD1A ARNT2 IFT52 DYNC1I2 RAD21 GATA6 PTPN11 TRIM8 DYNC1H1 NOVA2 WBP11 KDM5C RYR1 CUL7 UPF3B NSUN2 RPL15 PARS2 TBCD TGFB1 PIK3CD BSCL2 ADAMTSL1 PIGK PIK3R1 MDH1 AP4B1 PIGU SRC PHF8 KCNQ1 RPL31 B4GALT7 RBM10 KCNJ6 LEMD3 SLC1A3 TSEN15 PAM16 TRMT1 WASHC5 RPS17 CDK8 FBXW11 SOX11 NSD2 MYT1L RPS15A WDR73 VIPAS39 TMEM231 RRP7A POLR2A ACOX1 SCN1B ADARB1 TSR2 APC2 EMC10 NECAP1 TP63 BRPF1 NIPBL CLCN7 SMARCB1 RSPO2 PEX11B PITX2 ZNF148 GNAO1 HDAC4 RPL5 PKDCC PCNT NFIB STIM1 TOGARAM1 ACTG2 HBA2 MOCS1 GK PRMT7 MED25 GTPBP2 LEMD2 PALS1 TFAP2B AMPD2 AMACR PCGF2 RPGRIP1 BMP1 FUT8 SIX2 NCAPG2 KCNAB2 AGRN ASXL3 DSE MLXIPL NBAS TRRAP KDM6B MTX2 FRAS1 BAZ1B HSD17B4 UGP2 PPM1B EBF3 CASZ1 PRDM16 HBA1 NOTCH3 VPS53 CAV1 COL27A1 PLK4 BMPR1A ERCC5 FKBP6 CLDN4 MBTPS1 HTT TRIP13 DALRD3 COX4I1 TNRC6B MAP3K7 SMG8 LAGE3 IFT81 HP_ABNORMALITY_OF_FACIAL_ADIPOSE_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FACIAL_ADIPOSE_TISSUE ZMPSTE24 LMNA PPARG LMNB2 KCNJ6 PSMB8 ERCC6 ERCC8 POLR3A HP_FULL_CHEEKS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FULL_CHEEKS TMEM107 PSPH ZPR1 BICRA ZNHIT3 PIGB KRAS TMEM231 FBLN5 PAX1 KIF11 KMT2E INTS1 SOX11 TECPR2 DPM1 PURA IARS1 PIK3CA SC5D GNAS GATA4 WDR35 SH3BP2 GPR101 TCTN3 DDB1 AGL ELMO2 EIF2S3 IDUA SLC29A3 EYA1 DLK1 ATP7A TRMT10A RPGRIP1 NOTCH2 KLHL7 LMX1B IDS SPTBN1 STAG2 CRLF1 PLCB4 IER3IP1 EDN1 HRAS NEK9 WDR26 KIDINS220 TCTN1 ACTB EXTL3 SON B9D2 STX16 EP300 BRAF MOCS2 AFF4 SNX14 CSPP1 SLC35A2 ACTG1 AIP ELN MLXIPL CDK5 MTX2 TBL1XR1 DPYD MKS1 SHANK3 TBCE CPE MAP3K7 MAP2K2 KDM6B ALDH18A1 TMEM216 TCF4 FGF3 FLNA NALCN GNAI3 PPP1R15B SIM1 CLCF1 BMP2 VPS33A SETD1B HSPG2 H1-4 MAP2K1 WDR19 CC2D2A NRAS KIF1A STXBP1 PCLO PIGN SLC37A4 PUF60 YARS1 SH3PXD2B RPGRIP1L MEG3 TGDS TAFAZZIN TMEM67 LARS1 IFT122 WAC CREBBP KCNH1 B9D1 ASXL1 MOCS1 PIGQ FBN1 PCNT RTL1 TCTN2 LMNA SLC26A2 OCRL CCDC88A TXNDC15 SETD1A IFT52 TMEM237 CEP290 HP_LOW_ANTERIOR_HAIRLINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_ANTERIOR_HAIRLINE SMARCA2 RPS28 SMPD4 SOX4 BICRA ARID2 RPS15A HDAC8 RPL27 POLR1D KCNJ8 ADA2 SLC35C1 RAB3GAP2 RPL18 TECPR2 SLC25A24 SPEN PGAP1 SH2B1 DOCK7 FOS ZIC1 SPOP TCF12 RPL35 ARID1B TWIST2 SMARCE1 TRMT10A RPL35A EMC1 NOTCH2 CAVIN1 STAG2 MAN2B1 PACS1 GATA1 NBN ANKRD11 AGPAT2 SMC3 TCOF1 RAB18 NSUN2 LRPPRC KREMEN1 LIG4 RPL15 TSR2 RPS19 POLR1B SMARCA4 BRD4 RPS7 DPF2 AIFM1 SMC1A ASXL1 FGFR2 NIPBL PEPD RPS27 ATP6V1B2 BSCL2 SMARCB1 TBC1D24 SLC12A6 RPL11 SETD5 TBX2 ABCC9 ARX FRMD4A CREBBP TMCO1 RPS20 HSPG2 VPS33A RPL5 DOCK6 RPL31 KCNN3 NANS PPP1R15B ZNF699 IGF1 RALGAPA1 ERMARD MAB21L1 FGFR3 CAV1 MED13L DPM2 RPS29 RPS10 RPS26 POLR1C TBC1D20 KCNH1 XRCC4 INSR RPL26 SMARCC2 SVBP TAF6 BRCA1 PIK3C2A VPS13B TWIST1 SMARCD1 EP300 RPS17 MAP3K7 PPARG RPS24 ARID1A SOX11 COG7 RAD21 HP_FACIAL_HYPOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_HYPOTONIA RAB11B YY1 SLC1A3 KDM4B NGLY1 ZMIZ1 VPS13B CACNA1A AMPD2 AP4B1 STAG2 MAN2B1 CAMK2G PPP2R5D XYLT2 ASXL1 AP4M1 ATP1A2 POU3F3 GRIA3 ZBTB11 AP4E1 DSE HERC1 PPP2R1A ATP1A3 PURA KCNK4 POGZ MECP2 PCGF2 MYOT UNC80 STRADA TET3 CHAMP1 KDM5C AP4S1 GAA PAX7 HP_MASK_LIKE_FACIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MASK_LIKE_FACIES MAPT MRE11 ATP6V1A PANK2 DCTN1 ATP13A2 TK2 ACTA1 NR4A2 ATP6AP2 SNCAIP HSPG2 ATXN2 PAX6 POLG FA2H PRNP ATXN8OS RIPK4 ITPR1 FMR1 SLC6A8 DNMT3B FKTN POMT1 MYH3 ADH1C ATP7A KCNJ6 FKRP MTM1 KMT2D PDGFB UBA5 GLUD2 PABPN1 DUX4 KDM6A TBP PIEZO2 TRIM32 POMT2 PLXND1 REV3L TH EIF2AK2 SLC20A2 LARGE1 UBE3A SMCHD1 PDGFRB GBA FRG1 HP_OVAL_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVAL_FACE SH2B1 EXOC2 TSPEAR HYOU1 SOX18 NFIX PUF60 CASK B3GALT6 ADARB1 CNTN1 TP63 SPEN EBF3 SPTBN1 HP_ABNORMALITY_OF_FACIAL_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FACIAL_MUSCULATURE MYL1 SGCD CFL2 SELENON POU3F3 COL12A1 SLC18A3 TPM3 CHCHD10 LMOD3 GJA1 TECPR2 DOK7 AP4E1 MUSK SLC18A2 DNAJC6 TK2 IRF6 SH3TC2 PAX7 AP4S1 COL13A1 TP63 STRADA SLC9A7 MYH7 ATP6AP2 ANKH TXNL4A MSTO1 MAN2B1 RYR1 FRMPD4 XYLT2 ITGB4 SCN4A CHRND CHRNE PTCHD1 DES CAPN3 PIK3CA ARX MYO9A POLG2 MECP2 EYA1 GBA PLXND1 GIPC1 CHRNA1 CHAMP1 MEGF10 VCP GIGYF2 CACNA1A LRP5 PDGFB CLCF1 NGLY1 HACD1 ABCA1 GAN ATP1A2 BAP1 MSX1 SNCA KCNK4 SYP GMPPB KBTBD13 DLG3 ADA2 POLG PEX3 DMPK CACNA1S LRP4 HLA-DRB1 ADCY5 TPM2 PABPN1 ASXL1 ZBTB11 PUF60 GSN PPP2R1A SYT2 RRM2B PEX2 TREX1 NARS2 PEX6 SLC25A1 MTM1 CHD7 DMD KLHL41 ACSL4 ZNF711 PEX5 CNKSR2 ITGA7 SPEG MID2 BICRA NEB SIX1 COLQ CAMK2G SLC6A3 SLC25A42 PPP2R2B GNE PURA CNTNAP1 RAB39B FBXO7 DNM2 MPZ POMT2 FKRP GDI1 TNFSF11 CHAT KDM5C RPS6KA3 ANO5 ALG13 ACTN2 VPS13B TTN NEFL SRPX2 USP27X SLC39A14 SLC30A10 FTL ACTA1 HERC1 COL6A2 MYPN NOD2 JAM2 DNM1L ADSS1 RAPSN UBA1 TUBB6 SMCHD1 OPA1 TGFB1 MED12 SMO COL6A1 NECTIN1 PTDSS1 DPAGT1 SPTBN4 SLC12A6 IQSEC2 TCIRG1 AP4B1 MYMK SCO2 ACADS LARGE1 CRYAB PLAA ALS2 LAMA2 CLCN7 YME1L1 AMER1 UPF3B GFPT1 PEX12 ZC4H2 USP9X VPS35 IRF2BPL SLC1A3 CLCN4 GLE1 SLC52A2 PEX16 SIX5 ATP13A2 BAG3 AP4M1 KCNK9 TUBB3 LRRK2 KLHL40 DCTN1 LAMB2 REV3L AGRN SLC5A7 GAA PRRT2 TRPV4 SUCLA2 ADCY6 ZMIZ1 SPTBN2 MTMR2 ASAH1 MT-TE DNAJB6 ZNF41 NUTM2B-AS1 POMT1 SLC25A4 MYL2 AKT1 ZNF81 HOXB1 PEX26 CHRNB1 STAG2 EIF4G1 AGTR2 PRKCG FTSJ1 PAK3 SOST SHMT2 CRPPA SEMA3E MGME1 PEX10 SCN1A CHKB SLC25A21 PPP2R5D FRG1 GRIA3 BMS1 SYNE1 COL4A1 BIN1 PLEC HK1 TFAP2A COL6A3 TRAF7 YY1 KDM4B MTMR14 DNAJC13 SQSTM1 PEX14 ATP1A3 SLC19A3 MTRFR SUFU TET3 SALL4 PEX13 ALG2 POGZ RAB11B AMPD2 PEX19 AK9 ALG14 ARHGEF6 SYNJ1 COX6A2 CC2D1A PCGF2 NF2 MYOT UNC80 GJC2 SMARCB1 SNAP25 SPR PLA2G6 PEX1 ADGRG1 FKTN MT-TN KY BTNL2 DSE DLL4 TRIM32 NOTCH2NLC SMARCE1 TSPAN7 PEX11B FLNC STEEP1 TERT SLC52A3 EBF3 ATXN1 IL1RAPL1 PI4KA VAMP1 SNX10 PTRH2 DNA2 YARS1 ABCD1 RNASEH1 SURF1 MT-TS1 TWNK CRLF1 PODXL HCFC1 MAP3K20 LRP12 HP_MANDIBULAR_PROGNATHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MANDIBULAR_PROGNATHIA RPL10 SMPD4 HERC2 FMR1 GPC4 KIF11 CNOT3 CDH11 IARS2 GNB2 SH3PXD2B PIGL SUFU HNF1B ERCC8 RAI1 DEAF1 TGFB1 APC2 RTL1 SLC25A24 APC FBN1 SLC6A17 SLC9A6 FOS FLII SVIL GPR101 GORAB CA2 LRP4 FBXW11 IDUA SMAD4 PIGV SELENON CLCN4 RPS6KA3 SNRPN FGFR2 INSR CAVIN1 KAT5 ANKH FAM20C AGPAT2 TXNL4A AIMP2 STAG2 GALNS MAN2B1 ERCC6 TPRKB PRKAR1A KPTN PYCR1 ZEB2 NEXMIF CHRNE AIP TBC1D7 ATAD3A SOST PAX3 PIGY SOX18 DOCK3 EZH2 SFRP4 GJA1 LTBP3 LRP5 GLB1 GRIA3 SLC12A2 FGFR1 DYM SMS MAF P4HTM ADAMTSL4 MEG3 GPC3 SUZ12 AP4M1 PQBP1 MED13L CACNA1G SLC6A8 TAFAZZIN PTCH1 AFF3 PIGW CLIC2 PUF60 IL1RAPL1 HS6ST2 FOXP1 PDE4D FLCN ANTXR1 OCRL PTPN11 PPARG UBE3A MED25 PGAP3 OPHN1 POC1A COLQ MEN1 PRKACB SLC35C1 RECQL4 ERCC1 POGZ PTCH2 AP1S2 PCGF2 PGAP2 EHMT1 NSD1 TNFSF11 MYH3 KDM5C KCNH1 RUNX2 CUL7 ACAN OCA2 UPF3B RAF1 GNPTAB HERC1 MSTO1 NHS SLC35A2 NFIX CSNK2B TNNI2 DNMT3A RUSC2 KAT6A SETD2 BSCL2 TWIST2 MAGEL2 IQSEC2 ADAMTSL1 KDM6B MYOD1 PMM2 PTDSS1 MYH7 MESD PTEN PIGO ALG14 TBCK GFPT1 CAV1 TONSL RNF125 AGA ATP10A TTN LAMB2 KCTD1 ERCC4 RNF113A FOXG1 STEEP1 DLK1 MYH8 CUL4B HP_ABNORMALITY_OF_THE_CHIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CHIN LMNB1 TRPS1 FMR1 GTF2I IARS2 GNB2 SH3PXD2B SUFU HNF1B ERCC8 EIF2S3 TGFB1 ALG13 RTL1 AP4E1 TUBGCP6 MAN1B1 MEF2C APC FBN1 SLC9A6 KANSL1 FOS CHD1 SPOP SVIL GPR101 GORAB MMP23B IDUA OBSL1 SMAD4 RPS6KA3 INSR CAVIN1 SPTBN1 KAT5 ANKH FAM20C AGPAT2 ANKRD11 TXNL4A AIMP2 CYP26C1 SPEN GALNS MAN2B1 ERCC6 PRKAR1A PYCR1 ZEB2 NEXMIF CHRNE AIP SOX18 CHAMP1 SFRP4 TBL2 SHANK3 RECQL4 BRAF LTBP3 SNRPN LRP5 OTUD5 ERF FIG4 FGFR2 RERE PRKCZ ACTB SLC12A2 SMS PORCN NALCN STXBP1 VAC14 MEG3 AP4M1 MTOR PQBP1 LMNA CACNA1G SLC6A8 MED12L LRP1 PTCH1 NCF1 CLIC2 PUF60 TAF1 DNAJC30 IL1RAPL1 CCDC8 CDH2 UGDH BCR CHD7 ANTXR1 BCL7B PTEN OCRL PTPN11 PPARG POC1A BICRA COLQ PDE4D PPP1R21 UBE3A PIGB SOX11 TLK2 ERCC1 ACTG1 PTCH2 CDK10 PGAP2 NSD1 TNFSF11 ELN KDM5C RUNX2 CUL7 ACAN EIF4H OCA2 UPF3B RAF1 LMX1B HRAS KIFBP ITCH CDH11 TMEM94 RNF13 HERC1 NHS SETD2 UBE4B CSNK2B MYH3 RUSC2 BUD23 AP1S2 DNM1L KAT6A RAI1 MAGEL2 PIK3CD CLDN3 BSCL2 ADAMTSL1 MYOD1 PMM2 PTDSS1 MYH7 PIGU RPL10 PIEZO2 H19 HSPG2 TBCK XRCC4 CAMTA1 RALA GFPT1 KCNJ6 TONSL IGF2 ZNF292 AGA ATP10A TTN PAX3 LAMB2 TMEM270 NFIA PDPN MYH8 HS2ST1 NDUFS4 SMPD4 HERC2 GPC4 KIF11 CNOT3 PIGL GTF2IRD1 POLR3A KNSTRN DEAF1 APC2 SLC25A24 SLC6A17 FLII CHRNG COA6 CA2 LRP4 FBXW11 TWIST2 PIGV SELENON CLCN4 TRIO NOTCH2 PTF1A STAG2 ABL1 TPRKB KPTN SNX14 TBC1D7 MBD5 ATAD3A SOST PIGY EED DOCK3 EZH2 PARS2 METTL27 MAPK1 SEMA3E ARID1B MADD GJA1 ZNF148 GLB1 GRIA3 FGFR1 DYM MAF TUBGCP4 P4HTM NFIX PIGS ADAMTSL4 SPECC1L ZMPSTE24 GPC3 SUZ12 PAPPA2 TFAP2A MED13L EDA LUZP1 SMARCA2 YY1 TAFAZZIN AFF3 RFC2 PDGFRB PIGW COL2A1 HS6ST2 CRKL FOXP1 FLCN FN1 MED25 POGZ PGAP3 OPHN1 DHX37 MEN1 PRKACB SLC35C1 FGF3 COX7B CLIP2 FLNA ABHD11 PCGF2 SCUBE3 ZBTB24 EHMT1 KCNH1 WAC TBX22 LAT2 DST ATP6V1E1 STX1A KCNAB2 DDR2 GNPTAB MRAS ASXL3 MSTO1 SLC35A2 TNNI2 DNMT3A LIMK1 IQSEC2 SKI NSUN2 KDM6B SETBP1 BAZ1B MESD PIGO ALG14 EBF3 KDM3B CASZ1 PIK3R1 PRDM16 GTF2IRD2 MED12 CAV1 MEIS2 BMPR1A THOC6 DYRK1A RNF125 FKBP6 CHD8 CLDN4 VPS37D PRKDC MLXIPL PLK4 CTU2 KCTD1 ERCC4 TWIST1 RNF113A FOXG1 STEEP1 MAP3K7 GABRD DLK1 CUL4B HP_POINTED_CHIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POINTED_CHIN LMNB1 BICRA GTF2I DHX37 CDH11 PIGB GTF2IRD1 POLR3A KIF11 FGF3 SPEN CLIP2 AP4E1 TUBGCP6 MAN1B1 FLNA ACTG1 ABHD11 POGZ SCUBE3 CDK10 CHD1 SPOP MMP23B CAMTA1 NSD1 CHRNG ELN OBSL1 CUL7 EIF4H NOTCH2 SPTBN1 LAT2 HRAS KIFBP ATP6V1E1 ANKRD11 STX1A KCNAB2 ACTB ABL1 MRAS CCDC8 INSR ZEB2 TMEM94 SNX14 UBE4B MYH3 TBC1D7 PORCN BUD23 DNM1L KAT6A DOCK3 MAPK1 CHAMP1 METTL27 SETD2 TBL2 SHANK3 MADD LIMK1 CLDN3 SKI SETBP1 YY1 BAZ1B ZNF148 OTUD5 MESD PIGU CLCN4 RERE PRKCZ HSPG2 KDM3B TUBGCP4 CASZ1 PRDM16 NFIX RALA GTF2IRD2 MEIS2 LUZP1 MED12L THOC6 NCF1 ZNF292 RFC2 FKBP6 PDGFRB CHD8 TAF1 CLDN4 COL2A1 DNAJC30 VPS37D MLXIPL PLK4 CDH2 CRKL UGDH BCR FN1 TMEM270 BCL7B MAP3K7 GABRD PDPN POC1A HS2ST1 HP_MICRORETROGNATHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICRORETROGNATHIA GAD1 TMEM70 RPL10 NSMCE2 PAX1 MYH7 B3GAT3 GMNN SLC18A3 EBP KIF7 SLC35A3 NSDHL INTS1 ALG9 SLC10A7 VAMP1 SNAP25 RSPO2 PIGN CHAT C2CD3 PUF60 OCLN CEP120 CRIPT COL13A1 YARS1 SELENON ZC4H2 CTNND2 RTTN DSE FBXL3 NAA10 GLI3 TELO2 AGRN CHST3 SEC24D TAF1 SIN3A KCNK9 CHST14 SYT2 MYO9A CEP55 CANT1 TTN EIF4A3 KAT6A SLC25A1 CSGALNACT1 KPTN ORC6 TRIP4 SLC5A7 SEMA5A OFD1 TASP1 SF3B4 RELN HP_ABNORMALITY_OF_THE_MIDFACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MIDFACE A2ML1 SATB1 PIGA MGP ALX3 CCDC47 KMT2D DPM1 RAB23 GNAS NDP GORAB SLC6A8 OBSL1 KMT2C SMAD4 PPP2R5D NTRK1 STRADA IER3IP1 GATA5 ANKRD11 CBL SPEN SMAD3 XYLT2 STX16 GHR LRP1 SOS2 FLNB ELN FGFR3 NKX2-5 POU1F1 EYA1 CSGALNACT1 NXN SOS1 MAP2K2 COL2A1 RAC3 TP63 COL11A1 NRAS NOTCH3 PRKCZ ACTB SYP FAT4 LOXL3 DLG3 WDR19 RSPRY1 FGFR2 STXBP1 HNRNPU RFWD3 CTCF ROR2 EFTUD2 GPC3 ZIC1 PEX7 EHMT1 MTOR EXT2 PQBP1 OSGEP POP1 CREBBP B9D1 ATRX TWIST1 KIF15 HNRNPK RRAS2 AMMECR1 SETBP1 AEBP1 DHODH KCNJ2 PKD2 UBE2A NF1 FLNA CHN1 ACSL4 ZNF711 CNKSR2 EPB41L1 TBL1XR1 MID2 BICRA UBE3B B3GAT3 COMT PIGB PDE4D DVL1 GDF1 COG1 POR GDF11 SH3BP2 GSC KIF22 RPS6KA3 SIX1 LMNA ACAN LMX1B HRAS ITCH KIDINS220 USP27X CITED2 POLR1A NONO B9D2 RRAS CDH11 AFF4 USB1 SIX3 COL11A2 SIX5 H19 BPTF COL9A2 POLR1B IDUA EDN1 MTX2 RUNX2 KAT6A RAI1 MKS1 HIRA DACT1 MED12 HNRNPH2 RPS26 TBX1 TMEM216 ODC1 TBX4 SIM1 HSPG2 KIF7 TCF4 MAP2K1 CC2D2A DDR2 TMEM165 AUTS2 NAA10 USP9X MIR140 EXTL3 ATP6V1E1 CLCN4 POLR1C KCNH1 SEC24D VPS13B JAG1 RTL1 MN1 PDPN TUBB4A CHD1 CEP290 ZMIZ1 IREB2 RIT1 BMP2 FBLN5 POLR3A FOXC1 DEAF1 PEX1 DNMT3B SLC25A24 ESCO2 RAF1 TCF12 PIK3CA SC5D TCTN3 AGL EIF2S3 SERPINH1 ZNF41 GNAI3 KCNQ1OT1 IDS ZNF81 HOXB1 NSDHL TCOF1 STAG2 LHX4 ATP6V0A2 ALX1 CHST3 CPLX1 LRPPRC ERF PRKACA BMP4 ZFPM2 PRKAR1A LINS1 FTSJ1 PAK3 MBD5 PTH1R EFEMP2 TGFBR1 ARID1B BLM MAP3K7 TSEN54 MYSM1 RAB3GAP2 PAX1 HECW2 TSR2 FOXG1 ACP5 PPP1R15B ZBTB20 SEC23A SON FGFR1 PIGS HESX1 SPECC1L SLC37A4 SH3PXD2B TFAP2A CDC42 LUZP1 TGDS XRCC4 TAFAZZIN DCHS1 WNT5A ANK1 IGF2 B3GLCT EBP PIGQ SLC26A2 CRKL FBN1 FN1 ALG12 NOTCH2 PSMD12 WAC RBM8A GATA4 TGFB3 TMEM237 TMEM107 ZPR1 DHX37 NGLY1 KMT2E ARHGEF6 HCCS KCNE5 POGZ KLLN MEGF8 MYH3 PIGT LETM1 PEX12 KLHL7 CCBE1 KDM6A CTDP1 WDR26 LARP7 MITF CCDC8 NEPRO EP300 MOCS2 TMEM260 SNRPB SLC35A2 LAS1L SMC1A NKAP MAPK1 ANKRD17 SETD2 SALL4 IQSEC2 YY1 FGF3 STEEP1 CLCF1 VPS33A UFD1 MRAS IL1RAPL1 KIF1A LZTR1 SHH SP7 TGFBR2 GP1BB STAC3 SOST PYCR2 BRF1 PCNT RAB3GAP1 PLOD3 GPC6 HBB CCDC88A PDGFRB SF3B4 BGN KAT6B SLC35D1 B3GALT6 BUB1B SATB2 ZNHIT3 IARS2 KRAS INTS1 TECPR2 MAN1B1 GPR101 DDB1 MMP23B NGF SH2B1 SLC9A7 SMCHD1 SPTBN1 PLCB4 P4HB FAM20C TXNL4A TCTN1 BANF1 CYP26C1 FZD2 FRMPD4 PYCR1 PTCHD1 NECTIN1 WASF1 ARX AIP AIFM1 GPC4 SHANK3 NKX2-6 COL9A1 ALDH18A1 OTUD5 RERE NFIX LHX3 PPP1CB PIGN DVL3 RPGRIP1L FGFRL1 LBR COL18A1 TMEM67 ASXL1 SALL1 TAT HDAC4 BCR ATP6V1A CHD7 ANTXR1 DMD OCRL TXNDC15 TASP1 SETD1A IFT52 SEC24C GATA6 PTPN11 POLR1D GMNN NSMCE2 SOX11 JMJD1C LRRC32 PURA RAB39B IARS1 GDI1 SLC29A3 WBP11 DLK1 ATP7A EIF2AK3 ALG13 CUL7 MECP2 PSMC3 CDKN1C BRAF RNF13 HERC1 UBE4B CANT1 CCDC22 EDNRA RDH11 SCARF2 CPE TFAP2B PIK3R1 LRP2 PIGU NALCN KCNQ1 NBN YME1L1 B4GALT7 UPF3B PUF60 CEP120 ZNF462 TONSL MEG3 CTSK ARVCF GJA5 GLI2 COX7B NSMCE3 RREB1 WASHC5 CILK1 FIBP PSPH CNOT3 WDR73 DLX4 RPS28 MAFB BCOR TMEM231 GRIN1 KIF11 POLE COG4 INPPL1 BBS7 FLII ELMO2 SLC2A10 NSD2 TRMT10A PIGV NEK9 NDUFB11 AGTR2 SNX14 CSPP1 ACTG1 SPART CDK5 FLT4 SYK TMCO1 TCF20 SEMA3E PITX2 IRX5 COL1A1 PROP1 GRIA3 MAF SETD1B PCLO RHOA ADAMTSL4 CTNND2 HK1 MED13L COL5A1 IFT122 PAX3 HBA2 SVBP MSL3 APC MOCS1 POMGNT1 PRMT7 HDAC8 SEMA5A LRP4 LEMD2 CTBP1 AMPD2 LIFR PCGF2 WDR35 FAM50A RPGRIP1 TBX22 CRLF1 MAN2B1 HSPA9 KCNAB2 RLIM ASXL3 DSE TUBGCP2 MLXIPL PTCH1 MRPS14 TSPAN7 LRP5 DPYD BCL11A TBCE FOXP1 SKI KDM6B CHD3 MESD GATA1 CASZ1 H1-4 SNRPN PRDM16 HBA1 PTRH2 LTBP4 YARS1 RNU4ATAC BICD2 LARS1 CDK19 RASA2 HCFC1 TCTN2 COL9A3 PLP1 GABRD IFT81 HP_ROUND_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ROUND_FACE PLCB4 FIBP ADAMTSL2 PDE4D DIS3L2 ARMC5 PIGL ITGA3 TECPR2 PEX1 IARS1 KMT2A CHSY1 ZBTB24 PGAP2 GNAS PDE11A EIF2S3 GNAI3 MRPS28 PIGV TRMT10A SEPTIN9 LMX1B KAT5 ANKRD11 COL6A2 FGD1 STX16 DNMT3A TOR1A NEXMIF AFF4 ADARB1 ECEL1 CANT1 PIGY EZH2 SMC1A EED FBN1 CSGALNACT1 BRPF1 LMNA CPE XYLT1 TRAPPC9 PRKAR1A CRTAP PEX2 COL6A1 KDM6B AKT1 SUZ12 HDAC4 PIGO CENPE PTEN TMEM67 SLC10A7 COL2A1 NRAS STXBP1 PPP1R15B ALMS1 SPECC1L SLC37A4 PHIP MAPK8IP3 CTNND2 MED13L COL6A3 P3H1 TAFAZZIN KDM4B HOXD13 PEX6 NSD1 PIGW KIF15 PAM16 ZBTB18 ACTG2 B3GLCT USP8 MRPL12 HRAS COL11A2 SH3BP2 CDH23 EXOC8 SEMA5A LTBP3 COL11A1 PGAP3 CACNA1C HP_HYPERTELORISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTELORISM RNU4ATAC A2ML1 CCDC32 NF1 PIGA COLEC10 ALX3 CCDC47 FAT4 SH3PXD2B SUFU GATAD2B DPM1 VPS51 ALG13 BMPER MAP2K2 CDH1 APC KISS1 TCTN3 WDFY3 STRADA RPS6KA3 ADAMTS3 ANKH BRAF GATA1 CENPF CBL MAP2K1 SMAD3 XYLT2 KREMEN1 ZEB2 CDK13 SIN3A SOS2 EXT2 FLNB FAM111A RSRC1 ELN EZH2 ASXL2 NXN KCNMA1 SOS1 RPS27 ALDH18A1 ERCC4 CHST14 MYLK MIR140 RAC3 AKT1 GRIP1 HUWE1 PIGN FIG4 NRAS KCNJ2 CTBP1 NOTCH3 MKS1 ACTB TACR3 SHH NALCN TMEM67 PEX5 SIK3 SALL4 KBTBD13 RSPRY1 FGFR2 PDHX KIAA0753 GPC4 VAC14 ZNF699 HNRNPU CTCF ROR2 ZSWIM6 GPC3 PHIP ZIC1 MED12 STAT3 MAPK8IP3 ERCC2 MTOR PROK2 RPS29 MED13 RPS10 PTCH1 OSGEP FGF17 B9D1 ATRX KIF15 BRCA1 ZIC2 PITX1 MYOD1 CNTN1 DPH1 CD79A ITGA8 RRAS2 SETBP1 B3GALT6 YWHAE UBE2A FLNA PTEN GREB1L RPS24 GATA6 EPB41L1 SMAD4 JARID2 TBL1XR1 BICRA NEB RERE SNAP29 PPP1R21 B3GAT3 COMT PIGB PDE4D MAPRE2 ZMIZ1 DVL1 SLC2A10 DCHS1 BRCA2 C12orf57 COG1 IGLL1 RECQL4 POR MPLKIP PTCH2 CDK10 PGAP2 FUCA1 KIAA1109 NSD1 ANTXR1 SHOC2 TTC7A SPRY4 PACS1 HRAS KIFBP NKX3-2 PACS2 B9D2 JAG1 SVBP RRAS CDH11 TMEM94 TANC2 PPP2R1A USB1 FGFR1 FGFR3 MED27 BPTF POLR1B CENPJ TARS1 FREM1 RUNX2 HIRA AFF4 SLC39A13 GLI2 PPP1CB HNRNPH2 PMM2 TBX1 PTDSS1 SLC12A6 ATP6V1A TMEM216 FAR1 ODC1 FANCB LMBR1 TBX4 PHGDH TBCD BCL11B KIF7 MYPN TBX15 EHMT1 SMG9 CC2D2A ZMPSTE24 DDR2 NUP133 AUTS2 DPYSL5 PIGO DISP1 KNL1 CASK ERMARD KCNN3 DUSP6 DOCK3 PPP3CA QRICH1 GLI3 ADAT3 ATP6V1E1 RAPSN AHDC1 POLR1C CCND2 FGF10 COL1A2 KCNH1 SEC24D INTS8 EIF5A LMNA EDEM3 PGAP3 SLC29A3 GLE1 SATB1 MN1 RAF1 PAX3 ZBTB18 CEP290 RAD51C RPS28 RIT1 PIGL FBLN5 POLR3A RPL18 FOXC1 DEAF1 HS6ST1 PEX1 DNMT3B SLC25A24 ABCC9 ESCO2 HELLS KMT2A CHRNG CAMK2A TRIP12 TCIRG1 EMC1 TRIO PROKR2 ITCH KDM1A PPP2CA ZIC3 TCOF1 FGD1 TELO2 SLX4 ATP6V0A2 TBCE ALX1 CHST3 NELFA CPLX1 TPRKB LRPPRC NCDN MID1 HPDL PRKAR1A MGAT2 MASP1 EED RNF113A TGFBR1 NFIX MAPK1 SIX3 PEPD ACY1 ARID1B SEC23A TRAPPC9 MAP3K7 RELN PSMD12 MUSK ERF PPP1R12A HS2ST1 CDCA7 PHACTR1 WDPCP UBE3B PUS7 EPG5 COLEC11 LOX UMPS DOCK6 ERCC3 PDE6D SPECC1L SUZ12 RPS7 TFAP2A CDC42 TGDS SRD5A3 RLIM RPS26 GNE DPYD ACTL6A ALG1 WNT5A TRIM37 PIGW LAGE3 ANK1 KCNJ5 UBE2T TTC37 TAF1 B3GLCT SLC26A2 CCNK FOXP1 DICER1 ALG9 RAD51 CTNND1 OGT BCORL1 PEX3 CPLANE1 WAC INPPL1 DDX6 PIGG TGFB3 IL11RA TMEM237 PALB2 TPM2 NKX2-5 PIK3R2 TMEM107 SCN1A TGFBR2 DHX37 PRKACB NGLY1 SLC35C1 SLC18A3 RPL5 ITGA3 COX7B EBP FANCE ZBTB24 ALG8 DOK7 MEGF8 LETM1 ACOX1 ACTA1 FANCI CCBE1 CCDC22 MRAS MOCS2 FANCD2 RPS19 DNMT3A FANCL PSAT1 EXOC2 CHSY1 ASXL1 TWIST2 OFD1 IQSEC2 PYCR2 ALG6 SKIV2L RPL11 WDR73 SMAD2 PRKG1 PEX6 BMP2 UFD1 DDX59 MAF RIPK4 STAMBP IGHM LZTR1 GALNT2 MAT2A PTH1R FGF8 CSPP1 TAPT1 GP1BB SKI SOST COL11A1 TCF3 CHD8 CHD4 TMEM138 RMRP TWIST1 NARS1 EFEMP2 AP4S1 TRIP4 ZMYND11 POLR1A BGN GNRH1 LMNB1 KMT2E HMGA2 BUB1B ADA2 KRAS FBN1 INTS1 GJA1 SLC45A1 MAN1B1 MEF2C COL1A1 DNAJC21 MCTP2 MED25 UBR7 SH2B1 SOX9 TGFB2 SPTBN1 TNFRSF11A FAM20C TXNL4A TCTN1 MAN2B1 FZD2 INSR WDR37 FREM2 EFNB1 GRIA4 ADK WDR11 DDX3X AIFM1 ACTL6B RFWD3 HEY2 EP300 PYCR1 LRP4 FBXO11 KATNIP OTUD5 WDR4 PTPN23 SMS TUBB RPS20 HSPG2 ERGIC1 RET DVL3 RPGRIP1L FGFRL1 CACNA1G SOX6 NKX2-6 MED12L LBR SPINT2 RAI1 KIAA0586 RPL26 COL3A1 IL1RAPL1 TP53RK FH CDH2 KDM4B MMP2 CHD7 KLHL41 GTF2H5 AGO2 PTPN11 TXNDC15 TASP1 SETD1A CLCN6 POC1A BRCC3 SEC24C RPL27 POLR1D JMJD1C PRPS1 ACTG1 MYH11 WASF1 SET AKT3 EIF2AK3 NOTCH2 RYR1 COL2A1 NUP107 ATP6V1B2 NSUN2 SMCHD1 FANCA HERC1 LRRC8A RPL15 DHCR7 ACTA2 MYH3 RUSC2 STIL CNOT3 BNC2 PIK3CD PIEZO2 TCF20 TFAP2B NSMF CREBBP TBC1D24 PIK3R1 ABCD4 KAT8 LRP2 SHROOM4 GTF2E2 TPM3 RPL31 B4GALT7 SIAH1 CEP120 RBM10 ALX4 LEMD3 MED13L FANCF CHRNA1 TBR1 ZNF292 ARVCF AGA NFASC KNSTRN COL11A2 NSMCE3 RREB1 LRP5 TRMT1 CSNK2A1 WASHC5 VSX1 TRAPPC4 RPS17 TAC3 FBXW11 MADD NSD2 FIBP GAD1 MYT1L THOC2 RPS15A DLX4 PIK3CA EXOSC9 TMEM231 FOXE3 SPEN BBS7 NTNG1 FLII NUP88 CAMTA1 RPL35 FOXF1 TENM3 PIGV RPL35A POLR2A ANKRD11 EXTL3 GLB1 SLC12A2 TSR2 SPART TCF12 WARS2 PIGY TMCO1 PARS2 BRPF1 CIT SEMA3E PITX2 IRX5 XRCC2 TBX2 PPP2R5D FGF20 SHANK3 PLCB3 AMER1 GPAA1 ALDH6A1 TOGARAM1 MARS2 CTNND2 KAT6B CHRND INTU DSE SMARCA2 SPOP NONO HDAC8 AFF3 FANCC MFAP5 HBA2 FAM149B1 MOCS1 GK FLCN PRMT7 SEMA5A SMARCD1 IFT43 POGZ MAD2L2 PALS1 RB1 FGF3 CHRNA7 WDR35 CD79B GNRHR RPGRIP1 THRA SIX2 ASXL3 SPRED1 KISS1R MRPS14 NBAS PEX2 FRAS1 TRRAP HSD17B4 CHD3 BLNK DPF2 RNF2 AVP ADGRG6 LIG4 EBF3 SNRPN NTNG2 HBA1 PTRH2 LTBP4 HACE1 FLI1 COL27A1 PAFAH1B1 SLC1A4 BMPR1A VPS35L CDK19 RASA2 HTT FANCG CTU2 TNRC6B TCTN2 KLF13 BRIP1 PLP1 SMO FANCM GBA TONSL HP_FACIAL_MYOKYMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_MYOKYMIA ADCY5 PPP2R2B ABCD1 SPTBN2 ATP13A2 PRKCG HP_SMOOTH_PHILTRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMOOTH_PHILTRUM GAD1 MYT1L RPL10 SMPD4 KMT2E EXOSC1 ZMIZ1 CCDC32 SATB1 SATB2 DIS3L2 PIK3CA NUP107 PUS7 KIF7 SLC45A1 DPM1 SLC25A24 MAN1B1 NTNG1 SPOP ALG9 WDFY3 PTPRF RTTN ADSL RHOBTB2 SPTBN1 HOXB1 ANKRD11 SMC3 ATP6V0A2 SLC12A2 MID1 SIN3A WDR37 GRIA4 ACTL6B KCNMA1 SEC23A NALCN SYT1 ZNF148 CDC42 IRX5 HUWE1 HS2ST1 RAD21 NOTCH3 COG1 BPTF ZC4H2 TRAPPC9 UBE3B PTPN23 SMS MAF SON UBR7 KCNK4 PKDCC PPP1CB PIGN ZNF699 HNRNPU UNC80 ADNP MTOR PLAA MED13 RLIM GNE AFF3 ACTL6A CERT1 AP3B1 MAPK8IP3 HPDL MED12 KIF15 CLIC2 ZBTB18 MSL3 DYRK1A PIGQ BCORL1 SUMF1 FBN1 CDH2 CRKL KDM4B UGDH BCR ATP6V1A PSMD12 FLCN CD96 AGO2 TRPS1 TASP1 DDX6 TGFB3 COG7 LEMD2 PALS1 JARID2 ADAMTSL2 TBX1 TBL1XR1 ZPR1 RAI1 SPECC1L RERE ACER3 PIGB USP9X MMACHC AP3D1 WASF1 CDK10 WDR35 SRCAP KDM5C COL3A1 IFIH1 CCBE1 STAG2 PACS1 TRIP12 SVBP SMARCA2 TMEM94 TANC2 MED27 CSNK2B TUBGCP2 CANT1 EXOC2 SMC1A CNOT3 MAPK1 CTNNB1 ANKRD17 ATG7 TCF20 PYCR2 AASS NSUN2 TRRAP MYOD1 SETD5 FAR1 KAT8 IGF1R DPYSL5 PIGU FLNA POLR3GL EBF3 ORC4 NTNG2 PUF60 CASK MAB21L1 WDR19 FLI1 MEIS2 DOCK3 QRICH1 ATP6V1E1 THOC6 ZNF292 HTT PRDX1 TNRC6B TRMT1 PPP2R3C PAX3 TRAPPC4 FOXG1 STEEP1 FBXW11 SMG8 MADD HP_BIRD_LIKE_FACIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIRD_LIKE_FACIES ZMPSTE24 WNT10A TARS1 LMNA ERCC3 XRCC4 RNF113A NHEJ1 LIG4 GTF2H5 RAD50 ERCC2 MPLKIP GTF2E2 HP_SQUARE_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SQUARE_FACE PUF60 EP300 SEMA3E WAC KDM5B LIFR CREBBP SETD1B ADAMTSL1 IFT57 CHD7 HP_SHORT_PHILTRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_PHILTRUM NSD2 EXT2 SMPD4 ERLIN2 IREB2 CNOT3 CDH11 SH3PXD2B PIGL PUS7 GATAD2B KIF7 RAI1 DEAF1 VPS51 RAB3GAP1 RTL1 PHF21A AP4E1 MAN1B1 SPEN MEF2C SIX3 FLII RAB3GAP2 MCTP2 PIGV MED25 TSPAN7 TRMT10A NFIX AP4S1 GLI2 EMC1 ITCH PPP2CA SPTBN1 TXNL4A NELFA DLK1 ZEB2 PRKACA NEXMIF WNT5A TBC1D20 CDK13 KCNK9 PITX2 PTH1R PIGY MID2 TGIF1 SHMT2 NXN ARID2 CHAMP1 PARS2 BRPF1 ARID1B KDF1 FGF8 CKAP2L CUL4B CDC42 LARP7 FIG4 ZIC2 CTBP1 SATB2 GRIA3 CDON TWIST1 TRAPPC9 SMS SON KCNK4 WNT4 MADD FOXH1 PPP1R15B VAC14 CTCF ROR2 MEG3 WDR4 UNC80 PHIP DOCK7 ADAMTS3 MAPK8IP3 AP4M1 PQBP1 FGFRL1 SMARCA2 SHH NONO HDAC6 CPLX1 MED12L RUNX2 KDM4B AP1S2 ZDHHC9 AFF3 KCNJ6 HUWE1 CREBBP FOXL2 PIGW NODAL APC CDH2 SRCAP SETBP1 ALG12 PSMD12 AUTS2 LRP4 POGZ GAS1 PIGG PGAP3 TALDO1 EPB41L1 TFAP2B SEC24C DHX37 UBE3B TMEM70 PRKACB SMAD4 COMT PDE4D DVL1 SOX11 JMJD1C LRRC32 UPF3B FAT4 FGFR1 PGAP2 OPHN1 LETM1 DENND5A COL3A1 RAB18 STAG2 SLC35A1 VPS13B KIDINS220 CCDC22 PSMC3 FREM1 SLC35A2 BPTF SMARCE1 MED12 SMC1A KAT6A NKAP ANKRD17 HIRA IQSEC2 HNRNPH2 TWIST2 ADAMTSL1 NSUN2 TRRAP MTX2 TBX1 AP4B1 TCF4 TAB2 DPF2 RNF2 POLR3A CCBE1 PIGO BCL11B DVL3 NALCN UFD1 NOG GALNT2 IFT57 DPYSL5 PTCH1 RALA GP1BB TMEM237 MEIS2 ERCC1 TBR1 KIFBP ZNF292 ARVCF TDGF1 DLL1 RREB1 FZD2 DISP1 EDEM3 TCTN3 MAP3K7 ALX4 SUFU HP_FACIAL_ASYMMETRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_ASYMMETRY ATR IGF2 NF1 CTBP1 DHX37 MAFB MEOX1 PAX1 SEMA3E USP9X MYCN BRCA2 C12orf57 MACF1 GDF6 PURA KRAS FGFR2 FANCE TCF12 PIK3CA OFD1 KMT2A ZIC1 SET H19 CHRNG EFNB1 LETM1 LRP4 EYA1 NSD2 PIEZO2 SIX1 PPP2R5D ELMO2 FANCI PLCB4 EDN1 SMC3 POLR1B SLX4 SON FANCA CDH11 ELOVL4 PPP2R1A SIN3A BMP4 SIX5 NOG MYH3 PORCN FGFR3 FANCL EDNRA MYH8 SMC1A KAT6A MAPK1 SALL4 RFWD3 DACT1 NTRK2 NBAS ERCC4 SOX5 CHST14 CHD7 PSMD12 YY1 SLC12A6 GDF5 AKT1 ERF CLTCL1 XRCC2 FANCB FLNA KCNJ2 GNAI3 SATB2 SMS MAF TRIO PTEN SMO GDF3 NFIX PIGN RHOA GNAS PUF60 HRAS SP7 FLI1 FGFRL1 ADAT3 CPLX1 FANCF KDM4B COL1A1 FANCC TWIST1 KCNJ5 COL2A1 UBE2T NRAS FANCG SALL1 CRKL RAD51 CTNND1 BCR FN1 BRCA1 FGF9 PKD2 ANOS1 BRIP1 FANCD2 KCNQ1OT1 SEPTIN9 FANCM PALB2 CHN1 MAD2L2 RAD51C HP_TRIANGULAR_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRIANGULAR_FACE TENT5A SMARCA2 A2ML1 PTPN11 KDELR2 RAI1 HMGA2 RERE BUB3 FANCI BUB1B RIT1 BUB1 KCNJ1 MYH3 POLR3A MYCN SLC45A1 KRAS SLC25A24 MVK PEX13 RAF1 SCUBE3 CDK10 UNC80 SRCAP TNRC6B ARX TRMT5 MCTP2 SERPINH1 PIEZO2 OBSL1 PAX7 IGF2 PPP2R5D IFITM5 BMP1 BSND CUL7 ALDH18A1 NOTCH2 PEX14 STAG2 PTF1A MBTPS2 ANKRD11 ATP6V1E1 CBL FANCC TNNT3 SEC31A MAP2K1 CCDC8 JAG1 RRAS TMEM94 COL1A1 CDKN1C HERC1 SOS2 SPRED1 NECTIN1 TNNI2 H19 BPTF MED12 EMC10 DCAF17 AP1S2 SMC1A KAT6A TRPS1 ANKRD17 BSCL2 SOS1 CDC6 PQBP1 PYCR1 PYCR2 NALCN MYOD1 MTX2 PIK3R1 ZNF148 ATP6V1A LARP7 TBX2 IGF1R NRAS KCNJ2 SYNGAP1 SPRTN PLAG1 ADGRG6 COL1A2 BRAF EBF3 MRAS MAFB XRCC4 CEP57 LZTR1 CLCNKB ZNF699 PAPPA2 MED13L PEX19 LEMD3 SPOP NONO SOX6 MED12L FBN1 HUWE1 PLOD2 TRIM37 AGPAT2 KCNJ5 SEC24D FKBP10 RASA2 HS6ST2 TRIP13 RRAS2 CLCNKA FLCN PSMD12 ORC6 GBA POC1A TALDO1 LEMD2 HP_ABNORMALITY_OF_THE_MAXILLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MAXILLA CDH11 HBB POLR1D ALX3 SMAD4 ERF FBN1 SMOC1 RAB3GAP2 PDE4D COL5A1 FLNB COLEC11 DCHS1 FGFR2 UPF3B ORC1 RTL1 FOXC1 TERT KDM5C RAB23 CHSY1 ORC4 UBB SF3B4 ARHGAP29 TERC FGFR3 IFIH1 ARSL BMP4 MSX1 NHP2 VPS13B WDR26 CDT1 TCOF1 FGD1 ABL1 POLR1A ALX1 SON PRKAR1A PRKACA PITX2 TP63 GORAB TUBGCP2 POLR1B PTCH1 MED12 GRHL3 SOX5 EDNRA BGN MAFB CDC6 SCARF2 SEC23A DLX4 PYCR2 LTBP3 CDC45 NECTIN1 SNRPN SLC12A6 FGF3 IRF6 KCNJ2 FGFR1 ZBTB20 BMP2 UBE3A PTEN CREBBP TMCO1 PARN FAT4 RTEL1 NFIX RIPK4 STAMBP DKC1 NOP10 NRAS ADAMTS10 GPC4 PIK3CA WRAP53 EFTUD2 MEG3 COL11A1 AKT1 USB1 EDA SKI GJA1 CDH1 LBR RUNX2 ZDHHC9 POLR1C KIFBP TINF2 PQBP1 PAX3 ZBTB11 KCNJ5 CTC1 AP2M1 GMNN GLI2 B3GLCT NPM1 DLG1 HRAS SRCAP TWIST1 MMP2 EP300 TWIST2 RPS6KA3 EFEMP2 ORC6 COL2A1 PDGFRB DLK1 SLC25A24 IL11RA HP_FACIAL_HEMANGIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_HEMANGIOMA SETBP1 GLI3 STAC3 EPHB4 CCDC22 PPP1CB WASHC5 ASXL1 CD96 POR DHCR7 RASA1 GNAQ RECQL4 ESCO2 OFD1 SLC26A2 MGAT2 GNA14 HP_SHORT_CHIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_CHIN NDUFS4 MTOR PPP1R21 FIG4 RNF13 ERCC6 H19 ERCC8 SOX11 COX7B ALG13 SHANK3 MAN1B1 ERCC1 FLNA EBF3 MEF2C XRCC4 SCUBE3 ZBTB24 CDK10 PIGS COA6 VAC14 ZMPSTE24 PAPPA2 MED12 LMNA TRIO EDA ITCH BMPR1A PTF1A DST CYP26C1 IGF2 ZNF292 ABL1 DDR2 ASXL3 PRKDC MBD5 AP1S2 ERCC4 PARS2 NFIA PTEN RECQL4 ARID1B NSUN2 MYOD1 HP_PROMINENT_SUPRAORBITAL_RIDGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_SUPRAORBITAL_RIDGES PIK3R1 FLNA ABCC9 KCNJ8 GRIA3 MAP3K7 ARX PHF8 SEC23A SHANK3 FREM1 FOS IDS OPHN1 PAK3 ERCC4 SUZ12 PTH1R SP7 PHF6 CAV1 RPS6KA3 EDA CAVIN1 AGPAT2 PSMC3 PDGFRB CHD8 TAF1 FHL1 ZSWIM6 PITX2 UBE2A MAP2K2 FGFR1 LAS1L FBXO31 HDAC8 PPARG RBMX BSCL2 HP_BROAD_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_FOREHEAD RPL10 THOC2 TCTN2 PSPH TBX1 RTL1 GTF2I TENT5A LFNG PIK3CA SH3PXD2B BMP2 CCNQ GTF2IRD1 GATAD2B RIPPLY2 KIF7 RAI1 POLE DEAF1 JAG1 AMMECR1 SLC25A24 MEF2C KANSL1 FLII GPR101 CAMTA1 OBSL1 SH2B1 NOTCH2 PPP2CA SPTBN1 MESP2 PTEN GATA5 MAN2B1 ABL1 CHST3 RBM8A ZFPM2 AIP TBC1D7 MBD5 NKX2-5 PPM1D RNF135 CDKL5 TCF12 EMC10 EZH2 FLT4 EED METTL27 BRPF1 TBL2 MADD PYCR1 CKAP2L NKX2-6 CHST14 NF1 FLNA PIGN DLL3 KCNJ2 FGFR2 ZBTB20 IGBP1 GPC4 MKS1 ZIC1 ADAMTS3 MED13L SLC6A8 YY1 TAFAZZIN NCF1 RFC2 TWIST1 KCNJ5 ACTG2 HBA2 DNAJC30 ZIC2 TTC37 CDH2 SETBP1 DNMT3A TET3 FLCN PEX3 ANTXR1 WAC BCL7B GATA4 RECQL4 TFAP2B GATA6 B3GAT3 PRKACB COLEC11 PAK1 CLIP2 GDF1 ACTL6B FAT4 ABHD11 NRAS PCGF2 UNC80 SHOC2 ELN WBP11 FGFR3 RUNX2 IFIH1 BMP1 FUT8 EIF4H ALDH18A1 CCBE1 LAT2 STX1A CCDC22 CITED2 CCDC8 RLIM CDH11 HES7 CASK BUD23 DLK1 LIMK1 IQSEC2 CLDN3 WASHC5 BAZ1B PTDSS1 SKIV2L TAB2 ODC1 PIGU SUZ12 POLR3A SIM1 EBF3 TBCK LRP2 HBA1 B4GALT7 GTF2IRD2 MEG3 KRAS THOC6 FBN1 FGF10 FKBP6 NSD1 GJA5 CLDN4 VPS37D FGD1 MLXIPL HRAS CUL7 NARS1 LRP5 TMEM270 NFIA STEEP1 HP_HYPOMIMIC_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOMIMIC_FACE TXNL4A TWNK DNAJC13 EIF4G1 SLC39A14 SLC6A3 SLC30A10 FTL KCNK9 ATP6AP2 LRRK2 TECPR2 POLG PODXL JAM2 SNCA PLAA SYNJ1 FBXO7 ATP1A3 POLG2 RRM2B CC2D1A SLC18A2 GBA DNAJC6 SLC25A4 SPR ATP13A2 PLA2G6 GIGYF2 VPS35 HP_SLOPING_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLOPING_FOREHEAD ATR SEPSECS ANKLE2 SMPD4 KIF11 WDR73 BUB3 MGP BUB1B VIPAS39 NUP107 TMEM231 RRP7A NDE1 NCAPD2 TUBGCP6 ABCC9 SC5D TAF13 TCTN3 C2CD3 EIF2S3 OCLN PIGQ NFIX RTTN PHC1 CENPJ METTL5 PYCR2 TCTN1 CDK6 QARS1 SLX4 SCN1B TBCK ASPM CSPP1 TSEN2 PSAT1 KCNA1 PARS2 PIGP CIT MCPH1 RFWD3 STIL KIF14 WDR62 ERCC4 RELN TSEN54 GNAO1 XRCC2 MKS1 CEP152 CDKL5 TTI2 CASK SASS6 TRAPPC14 TUBGCP4 EMG1 PCNT PAK3 RPGRIP1L FKRP SIK1 TMEM67 OSGEP COG4 FANCC B9D1 ZIC2 UBE2T PAH KIF7 RAD51 RNU4ATAC CDK5RAP2 CNOT1 TXNDC15 SLC25A22 DYNC1I2 TMEM237 MAD2L2 TMEM107 DMXL2 VPS33B ACER3 BUB1 TRIM8 PRUNE1 COASY BRCA2 SCN2A FANCE COPB2 NHEJ1 MFSD2A NEUROD2 ASNS RPGRIP1 RUNX2 FANCI VARS1 STAG2 PNKP CEP135 KIFBP ZNF335 NBN B9D2 NSUN2 ASXL3 FANCA NCAPH TUBGCP2 FANCL EXOC2 POMT2 SETBP1 CEP63 TMEM216 FANCB UGP2 PHGDH PHF8 KNL1 SLC25A19 ARX LIG4 CENPE GPKOW XRCC4 CEP57 STAMBP CC2D2A FKTN POMT1 RBM10 LTBP4 KATNB1 PLK4 DDX11 GLI3 ADAT3 FANCF CPT2 TSEN15 CTSD ERCC6 TRIP13 FANCG NCAPD3 TCTN2 BRCA1 BRIP1 FANCD2 CCDC88A LARGE1 TSEN34 STXBP1 FANCM PALB2 CEP290 RAD51C KAT6B HP_NARROW_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_FOREHEAD SMPD4 PSPH LMNB1 PURA BICRA NF1 RTL1 AMPD2 PPP1R21 ZNHIT3 CAMK2G CCDC47 PIGB BMP2 NUP107 HERC2 USP9X ATRX AP4E1 SPEN DYRK1A DOCK7 SC5D GPAA1 SPOP WDR35 SHOC2 PIGT SERPINH1 TRAPPC4 TRMT10A AP4S1 RYR1 FUT8 ATP6AP2 RAB3GAP1 SPTBN1 IER3IP1 ADAM22 BRAF QARS1 SON TBCK CDH11 NEXMIF RNF13 AFF4 DHCR7 ASPM KCNK9 TBCD TUBGCP2 MAP2K2 MLXIPL IFT140 SLC16A2 MYO18B NUP188 SMC1A KAT6A ASXL1 RBBP8 MAPK1 SNORD116-1 MAGEL2 DLK1 TRAPPC9 NBAS PYCR2 ATN1 RELN MEIS2 MYOD1 LGI4 PIGY SLC25A46 SLC12A6 AP4B1 TCF4 CDC42 PIGU PPP2R5D UGP2 GPT2 GNPTAB CARS1 SLC12A2 SIM1 NUP133 FRMD4A ELN PUF60 TMCO1 KCNK4 SMG9 NDN FAT4 CDKL5 AMER1 SNRPN MADD PWRN1 PPP1CB PPP1R15B LIG4 CTCF VPS53 AP4M1 MED13L MKRN3 PWAR1 SOX6 MEG3 KDM4B OSGEP DCHS1 TBC1D24 PUM1 RARS2 NPAP1 ZIC2 SETBP1 CTU2 LZTR1 PPP2R3C MN1 CCDC88A GTPBP2 LAGE3 SMARCD1 DDX6 SNORD115-1 NAA10 PIGN HS2ST1 COG7 HP_LONG_PHILTRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_PHILTRUM ATP7A RNU4ATAC LMNB1 KMT2E EXOSC1 TRPS1 CCDC32 NF1 GTF2I HDAC8 B3GALT6 BUB1B IARS2 LFNG KCNJ8 KCNH1 KRAS EIF2S3 TRIP11 INTS1 ALG13 RTL1 METTL23 APC EXOSC2 MMP23B OBSL1 WDFY3 OTUD6B TRAPPC4 MRPS28 PPP2R5D UBR7 ABCC8 SLC9A7 ANKRD11 SPEN FZD2 FRMPD4 XYLT2 PTCHD1 SIN3A EXT2 KIAA0753 ARX GRIA4 SC5D EZH2 CSGALNACT1 NXN CHST3 ACTL6B SLC6A1 KCNMA1 TBL2 DYNC2H1 MAP2K2 CRTAP CHST14 KCNJ11 MIR140 TMEM70 FBXO11 RAC3 HUWE1 PIGN COL11A1 TUBB NOTCH3 COG1 SATB2 BPTF RERE PRKCZ ACTB PTPN23 HSPG2 SYP NALCN DLG3 DVL1 MADD PPP1CB ZNF699 CTCF ROR2 MEG3 PHIP MED12 DVL3 MAPK8IP3 MTOR YARS2 CTNNB1 GLIS3 EXT1 ADSL ATP6V0A2 NCF1 CREBBP HPDL PUF60 TAF1 FAR1 PDHA1 DNAJC30 CCDC8 BCORL1 FBN1 CDH2 KDM4B ATP6V1A NEXMIF PSMD12 POR CD96 ANTXR1 BCL7B DMD OCRL AGO2 CNOT1 TASP1 SCN1A CLCN6 ACSL4 ZNF711 RAD21 ADNP LTBP3 CNKSR2 JARID2 BRCC3 SEC24C MID2 PPP1R21 B3GAT3 CAMK2G COMT PIGB PDE4D ZMIZ1 JMJD1C SLC2A10 ACTG1 WASF1 PTCH1 RAB39B WDR35 CDK10 GDI1 ELN TBCE RPS6KA3 NOTCH2 NIPBL CUL7 EIF4H STAG2 RIN2 MECP2 MPC1 NEB USP27X ABCC9 SVBP BRAF SMARCA2 CDH11 TOR1A AFF4 TANC2 DHCR7 MED27 UBE4B MYH3 CASK BRD4 CANT1 BUD23 COL2A1 CNOT3 HIRA PIEZO2 TCF20 CLDN3 ATN1 MYOD1 PUS1 PMM2 TBX1 TBC1D24 SETD5 IQSEC2 KAT8 IGF1R MYMK RPL10 SLC26A2 PLAA TBCK TPM3 KMT2A MAP2K1 CAMTA1 UPF3B ALG8 USP9X MAB21L1 FGFR2 ZC4H2 DOCK3 EXTL3 ATP6V1E1 CLCN4 ARHGEF2 TBC1D20 CLTC CHRNG ARVCF TAF6 B3GLCT FGD1 CBL NEK9 RREB1 TRMT1 TMEM270 SATB1 FBXW11 PDPN GAD1 MYT1L KIF11 BMP2 GTF2IRD1 RIPPLY2 KIF7 SLC25A24 SLC6A17 NTNG1 BCOR ZNF41 TRIP12 OCLN TENM3 TRMT10A TRIO GLB1 DYNC2I1 MESP2 ZNF81 PTEN SMC3 CPLX1 CHD2 SLC12A2 IFT80 WNT5A AGTR2 SNX14 COL11A2 SNAI2 DYNC2I2 RNF135 FTSJ1 PAK3 SHMT2 METTL27 BRPF1 MAPK1 CDC6 ARID1B SEC23A XYLT1 MAP3K7 ATP6V1B2 MUSK KARS1 CDC42 IRX5 PPP1R12A DLL3 HS2ST1 PUS7 SHANK3 MAF PKDCC NFIB FGFR1 PCLO PPP1R15B SPECC1L ALDH6A1 MARS2 KAT6B LUZP1 DSE GJA1 RLIM GNE ACTL6A RFC2 AP3B1 SYNGAP1 MOCS1 PIGQ PAH CCNK ALG9 TET3 PRMT7 INPPL1 PALS1 C12orf57 ADAMTSL2 RAI1 NLRP1 AP2M1 SMOC1 ARHGEF6 COX7B TTC37 CLIP2 ABHD11 GPC6 PIGT ACTA1 BMP1 CRLF1 LAT2 STX1A KCNAB2 PEX26 MOCS2 SNRPB TNNI2 HES7 MLXIPL SLC2A1 EXOC2 MYO18B KLHL41 TSPAN7 ALG11 LIMK1 NBAS PYCR2 SKI MTX2 BCL11B BAZ1B HSD17B4 FGF3 DPYSL5 STEEP1 SUZ12 UGP2 GNPTAB AVP CLCF1 DDX6 UFD1 MED13 IL1RAPL1 CASZ1 PRDM16 NRAS NTNG2 KIT EXOC7 LTBP4 SMC1A FLI1 GTF2IRD2 GP1BB METTL5 MEIS2 BRAT1 FKBP6 NSD1 ERCC6 CLDN4 HTT VPS37D BRF1 PRKDC HRAS HCFC1 TNRC6B MAPRE2 PLOD3 PPP2R3C EED SMG8 GABRD DLK1 IFT81 PTH1R RIC1 HP_HIGH_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_FOREHEAD NXN NSD2 ATP7A MYT1L THOC2 A2ML1 KMT2E EXOSC1 CCDC32 PEX6 GTF2I BUB3 SATB1 CDH11 BUB1B SATB2 DIS3L2 RIT1 SH3PXD2B ERF CACNA1A KRAS FBN1 GTF2IRD1 KNSTRN TRPV4 PEX1 GLI3 CDH1 PEX13 APC RAF1 PIK3CA NPHP3 KMT2A NTNG1 KANSL1 TRIO EXOSC2 ATP6AP1 ZIC1 GATA4 PEX10 SYNJ1 PEX26 SERPINH1 WDFY3 PEX3 CRIPT FGFR3 CDK19 POLR2A LMX1B PEX14 SPTBN1 SLC13A5 ANKRD11 CBL NELFA SLC12A2 RBM8A KCNA2 FGFR2 SIN3A PEX12 SOS2 EXT2 BMP4 WDR37 GABRG2 GRIA4 ATAD3A CNKSR2 ETFA NECAP1 GNPAT CLTC TP63 ARID2 ACTL6B METTL27 MAPK1 KCNMA1 TBL2 TCF20 SOS1 GABRB2 MADD GJA1 CELF2 MAP2K2 NTRK2 PEX11B FBXO11 GABRA2 TRAK1 HUWE1 ACTB FIG4 NRAS HS2ST1 CTBP1 HCN1 ATP1A2 BPTF CARS1 IGBP1 PEX16 PEX5 PUS7 PTPN23 MAF SLC1A2 UBR7 CDKL5 NFIB NFIX YWHAE PPP1CB VAC14 STIM1 HNRNPU CTCF WDR4 PHIP ALDH6A1 SOX9 DVL3 MTOR FGFRL1 SOX6 CPLX1 MED12L RLIM LBR ZDHHC9 NCF1 ACTL6A ARV1 RFC2 MAPK8IP3 HPDL HBA2 DNAJC30 ZIC2 ATP6V1B2 ATP1A3 FGF13 BCORL1 SZT2 PEX19 RRAS2 KDM4B CTNND1 PSMD12 ATP6V1A TET3 NEU1 UBE2A ANTXR1 BCL7B AGO2 ARX HIC1 MED25 SETD1A PIGG IFT52 UBA5 EPB41L1 PALS1 JARID2 TBX1 TBL1XR1 PIK3R2 AP3B2 SCN1A DNM1 PTPN11 PPP1R21 CAMK2G BUB1 ALG11 GMNN KCNB1 ZMIZ1 DVL1 MEF2C COX7B CLIP2 PURA THOC6 UPF3B MMACHC WASF1 ABHD11 SCUBE3 UNC80 WDR35 PIGT LETM1 ELN AKT3 SYT1 EIF4H SIX2 LAT2 PEX2 STX1A GABRA5 TRIP12 MRAS PAFAH1B1 SVBP SHPK BRAF RRAS CYFIP2 TANC2 FGFR1 CACNA1B MED27 PARS2 AARS1 BUD23 AP1S2 BPNT2 SCN3A CNOT3 FRMPD4 SETBP1 SETD2 PIK3CD ORAI1 LIMK1 CLDN3 WASHC5 ATN1 EEF1A2 ADAT3 MYOD1 MTX2 ETFDH BAZ1B SETD5 ODC1 HSD17B4 MDH1 KAT8 DHDDS DPYSL5 PIGU AP1S1 MED12 GNPTAB SCN8A STXBP1 DDX6 MED13 EBF3 WWOX YWHAG XRCC4 CEP57 MAP2K1 SYNGAP1 LZTR1 NTNG2 GALNT2 HBA1 FGF12 ETFB FLI1 GTF2IRD2 ZC4H2 TMEM237 DOCK3 SKI TBCE SLC1A3 CPT2 CCND2 CTSK GRIN2D SMAD3 PPP3CA FKBP6 CLDN4 RASA2 CENPJ HTT VPS37D TRIP13 NUS1 MLXIPL DALRD3 TWIST1 PRDX1 TNRC6B LRP5 STRADA TRMT1 TMEM270 TRAPPC4 GHR RNF113A FBXW11 CUL4B HP_WIDOW_S_PEAK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDOW_S_PEAK SPECC1L GDF11 RERE SATB1 FGD1 LRP2 ALX3 EFNB1 ALX1 SLC35C1 TWIST1 ATP6V1B2 MID1 SYT1 HP_SMALL_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_FOREHEAD KDM5C TFAP2A SNX14 DMXL2 PIGN IFT57 RELN HP_ABNORMALITY_OF_THE_OUTER_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_OUTER_EAR TRPS1 CCDC32 KIAA0586 SATB1 PIGA COLEC10 BUB1B ALX3 CCDC47 FAT4 ERCC8 EIF2S3 KMT2D VPS51 RNASEH2A KANSL1 ABHD5 NDP TCTN3 RERE WDFY3 MBTPS2 MRPS28 CEP41 DCPS SMOC1 KAT5 ANKRD11 CBL SPEN MAP2K1 XYLT2 MAP1B ZEB2 NEXMIF SIN3A PEX12 SOS2 SAMHD1 MRPS16 NIN LMOD3 EYA1 INPP5E NXN KCNMA1 SOS1 MAP2K2 CHST14 TMEM70 CLCF1 HUWE1 PIGN FIG4 TP63 COL11A1 NRAS KCNJ2 DIS3L2 PRKCZ PLAG1 PEX6 PEX5 RSPRY1 VAC14 EFTUD2 MEG3 CDT1 DOCK7 MED12 EHMT1 MAPK8IP3 ERCC2 PQBP1 GLIS3 LMNA EXT1 RPS29 RPS10 AP1S2 NCF1 TMEM237 CREBBP FOXL2 HYMAI B9D1 INSR ATRX PUM1 ZIC2 HNRNPK DPH1 ITGA8 UGDH SETBP1 AEBP1 B3GALT6 YWHAE CLCNKA GBA GNS SMARCA2 RPS24 B4GAT1 CHN1 NAA10 CHUK JARID2 TBL1XR1 SLC2A1 BICRA SNAP29 ALKBH8 AHI1 DONSON PDE4D MAPRE2 ZMIZ1 SLC9A6 DCHS1 C12orf57 COG1 POR PGAP1 FBXL4 KDM5C PGAP2 GDF11 ZNF711 SRCAP KIAA1109 GSC SHOC2 ELN SIX1 EIF4H COL4A1 PACS1 KIFBP ITCH NEB B9D2 CRPPA VPS37A CDH11 TOR1A MED27 BRD4 EDN1 RAI1 MKS1 FBN1 MSX2 DHX16 HIRA GLI2 DACT1 PPP1CB CLDN3 ATN1 TBX1 PTDSS1 SETD5 ATP6V1A TMEM216 FAR1 ODC1 FGFR2 PIEZO2 TBX4 H19 HSPG2 TBCD DZIP1L TCF4 SDCCAG8 SMG9 ERLIN2 CC2D2A ZMPSTE24 NUP133 FKTN DISP1 RALA CASK KCNN3 STAG1 DCAF17 QRICH1 RPL26 ADAT3 ATP6V1E1 SUFU RAPSN CANT1 POLR1C FGF10 TOE1 IGF2 VPS13B EIF5A CEP57 TMEM270 HOXA2 RXYLT1 NFIA GLE1 MN1 DPP6 RAF1 CEP290 RAD51C RPS28 SMPD4 KIF11 BUB3 RIT1 RPL18 KAT6B DNMT3B SLC25A24 ATRIP RAB3GAP2 BBS12 GNAI3 NFIX KCNQ1OT1 GLI3 NSDHL TCOF1 FGD1 SLX4 ATP6V0A2 ALX1 ERF RAC1 BMP4 ADAMTS18 BBS5 CEP104 EED RNF113A METTL27 ARID1B BLM PIGL TRAPPC9 NALCN SLC6A9 RELN KIF7 PSMD12 CUL4B MUSK TSR2 PPP1R12A HS2ST1 PPP1R15B ZC4H2 CWC27 UBE3B PUS7 COLEC11 PTEN TUBGCP4 PLOD1 PIGS PDE6D SPECC1L PRRX1 TFAP2A COL6A3 GJA1 ADAM17 RLIM TAFAZZIN KDM4B FLNB DNAJC21 RFC2 AP3B1 USP7 TTN PIGW LAGE3 FOXP2 UBE2T B3GLCT HS6ST2 ITGB4 CRKL FOXP1 IFT172 FN1 ALG3 NEU1 CPLANE1 SNRPB ORC6 DDX6 PIGG TGFB3 COG7 SOST ENPP1 DHX37 SMAD4 SLC35C1 PRUNE1 SLC18A3 CLIP2 AP3D1 EBP RMRP ZBTB24 SNAP25 OPHN1 PIGT LETM1 DST LARP7 MITF PEX26 TRIP12 TPM2 WDPCP EP300 GRIA4 EGFR RPS19 FANCL LAS1L EXOC2 ACTA1 SMC1A KATNIP MAPK1 KAT6A OFD1 FAM20C ERCC6 PYCR2 ALG6 PIGY TMEM107 RPL11 XYLT1 TMEM67 DPYSL5 SUZ12 OTX2 ARX BMP2 TBC1D23 ALG9 RNU4ATAC TNNT3 FBN2 SMC3 KIF1A LZTR1 GALNT2 RALGAPA1 SOD1 FGF8 SOX4 TAPT1 GP1BB ESCO2 METTL5 GNE STAC3 FMR1 SKI RPL10 TTC8 TCF3 HDAC6 PRKDC TWIST1 PCNT NARS1 PLOD3 NPHP1 PPP2R3C TTI2 FANCD2 KDSR LARGE1 TCTN2 KMT2E NF1 GTF2I KRAS INTS1 AMMECR1 AP4E1 MEF2C RBBP8 EXOSC2 SPOP COL2A1 DDB1 MCTP2 PEX3 C2CD3 TSHZ1 SPTBN1 EFL1 TXNL4A RAB18 ATIC FREM2 MGAT2 PPM1D SLC16A2 NUP188 PLAGL1 CHAMP1 GPC4 RFWD3 PYCR1 ZNF423 STRA6 FBXO11 OTUD5 TUBB SATB2 BPTF PEX16 PTPN23 SMS RPS20 IGBP1 MADD CLCNKB RET UNC80 ADNP AHSG DVL3 MYH3 RPGRIP1L CACNA1G SLC6A8 SOX6 LBR HPDL CEP120 COL11A2 ZBTB18 COL3A1 DNAJC30 DYRK1A GMNN SALL1 SYT2 CCDC8 BCORL1 DLK1 CDH2 CEP55 TP53RK SLC26A2 CHD7 ANTXR1 MCM5 AGO2 PTPN11 TXNDC15 POC1A SEC24C SHH PXDN LZTFL1 RPL27 POLR1D CAMK2G RPS23 ARL3 INTU SOX11 GJB4 PURA ORC1 TLK2 ERCC1 EVC2 ACTG1 WASF1 SET DENND5A ASNS STAG2 PSMC3 CDKN1C FANCA BRAF HERC1 LRRC8A DHCR7 UBE4B RUSC2 CDCA7 SRP54 PLK4 FRMPD4 PIBF1 MAGEL2 SCARF2 TCF20 SOX5 MYOD1 ETFDH LGI4 ABCC6 KAT8 LRP2 MRTFA PLAA GTF2E2 GPKOW TPM3 YME1L1 RYR1 ORC4 PEX2 MECP2 SIAH1 ZNF462 WNT3 WDR19 KATNB1 ALX4 FANCF CHRNA1 CSPP1 SIX5 WAC TBR1 TBC1D24 ZNF292 CLTC ARVCF KCNK9 ALG13 KCNH1 KIAA0753 COX7B PRDX1 FZD2 TRAPPC4 BBS2 SLC5A7 FIBP CTH THOC2 LONP1 CNOT3 DLX4 BRWD3 MAFB CHRNA7 CCNQ GTF2IRD1 KNSTRN MYCN ERCC5 ZNHIT3 SLC6A17 NTNG1 TRIO GATA4 NUP88 RSPO2 RPL35 TENM3 TRMT10A RPL35A RAB3GAP1 POMK BCOR SLC12A2 NDUFB11 WNT5A MEOX1 PSAT1 TPRKB ETFA TMCO1 CIT RECQL4 FGFR1 XRCC2 TBX2 DLL3 FRMD4A AMER1 PCLO ATR ECE1 SOX9 ADAMTS3 CTNND2 MED13L CHRND DSE TGDS YY1 FANCC MSL3 APC POMT1 PAH SALL4 MKKS HDAC8 LRP4 POGZ PLVAP MAD2L2 RB1 LIFR TWIST2 SEMA3E RDH11 SMARCD2 PAK1 GPC6 NIPAL4 GNB1 DYNC2LI1 TMEM231 TBX22 FLNA MAN2B1 LAT2 NBN HSPA9 MINPP1 PREPL CEP152 MASP1 TUBGCP2 PTCH1 RPS7 KLHL41 POMT2 DPYD BSCL2 LIMK1 FRAS1 TAB2 PHOX2B CHD3 MESD DPF2 RNF2 CCBE1 GATA1 LIG4 VAMP1 EXOC7 ACP5 WNT7A FLI1 ALG12 PAFAH1B1 DDX11 ATP6AP2 NSD1 AGPAT2 RASA2 FANCG CTU2 BRIP1 FANCB GABRD FANCM PALB2 A2ML1 SH3PXD2B TRPV4 BBS1 NDE1 BMPER TUBGCP6 RAB23 PLEC OBSL1 PAX7 PPP2R5D ABCC8 RPS6KA3 DHCR24 RHOBTB2 DAG1 CENPF QARS1 RBM8A CDK13 TGM1 EXT2 IFIH1 MYO9A EZH2 ASXL2 TUBB3 RPS27 ALDH18A1 ERCC4 TCTN1 AKT1 GRIP1 BBS9 CTBP1 NOTCH3 GPT2 ACTB OTUD6B SCAPER CPOX STXBP1 NANS PAK3 ZNF699 CTCF ROR2 GPC3 ATPAF2 PHIP RARB FKRP ZDHHC9 OSGEP FDFT1 POLE CLIC2 KIF15 PITX1 CD79A PEX19 RRAS2 DHODH COG5 SLC25A1 CD96 UBE2A BCL7B GREB1L CNOT1 FTSJ1 ARID1A SPEG COL13A1 PPP1R21 NTNG2 B3GAT3 SCYL2 ACER3 BUB1 COMT PIGB COL5A1 DVL1 BRCA2 IGLL1 MPLKIP CDC45 CHSY1 CDK10 CHAT TBCE ACAN LMX1B GLUL HRAS HMGA2 POLR1A JAG1 SVBP RRAS TMEM94 AFF4 TANC2 NHS POLR1B CENPJ TARS1 BUD23 PSMB8 SLC39A8 RPS26 COL6A1 PMM2 SLC12A6 IGF1R SYNGAP1 SIM1 PHGDH BCL11B TBX15 CAMTA1 TMEM165 KDM5B AUTS2 ETFB ERMARD MAB21L1 PHF6 POMGNT1 CFAP418 DOCK3 CPT2 AHDC1 PEX10 KLHL40 MRPL12 LMNB1 EDEM3 BRCA1 TRIM32 CEP19 PDPN KYNU KMT2C HMGB3 IREB2 KCNJ1 POLR3A RIPPLY2 ARMC9 PEX1 HYLS1 HELLS KMT2A ALOXE3 CHRNG OCLN RTL1 RTTN ADSL MESP2 ZIC3 PTF1A HOXB1 CHST3 NELFA FGFR3 SBDS EEF1A2 BBS7 MID2 PIEZO1 EVC ARID2 SIX3 CDC6 MAP3K7 MYSM1 GJB3 PAX1 PEX14 HECW2 ACBD5 FOXG1 PHACTR1 TRAIP ZBTB20 EPG5 SON UMPS MVK DOCK6 BHLHA9 NEK1 ERCC3 IQSEC2 CDC42 LUZP1 SRD5A3 ACTL6A ANK1 KCNJ5 TAF1 PIGQ CCNK RAD51 TET3 OGT NOTCH2 PLCB4 RAB11B VPS33B RNASEH2C HCCS ITGA3 FANCE WNT4 ABHD11 ALG8 MMACHC DOK7 MEGF8 KDM6A ACOX1 ALOX12B LMBRD1 FANCI VARS1 CAMKMT STX1A DDR2 MRAS TMEM260 HES7 MYO18B NKAP ASXL1 WDR73 UFD1 MED13 MAF RIPK4 STAMBP IGHM BIN1 GTF2IRD2 CTSD CHD4 VPS37D BRF1 EFEMP2 KCTD1 STEEP1 ABCA12 SF3B4 PTH1R LFNG ADA2 ITGB6 POU3F3 ARL6 MAN1B1 HOXD13 GPR101 MMP23B PKHD1 UBR7 DHX30 WDR37 AIP ARL13B CENPE MGP AIFM1 ACTL6B TBL2 SHANK3 CBY1 MEIS2 KCNJ11 WDR4 KCNK4 HHAT PORCN SSR4 ALMS1 POMGNT2 FGFRL1 CPLX1 SPINT2 IL1RAPL1 BCR MPDZ UBA1 BBIP1 ADAR OCRL GTF2H5 TASP1 WFS1 SETD1A SEPTIN9 IFT52 RAD21 TALDO1 BRCC3 TMEM138 JMJD1C PRPS1 CNTNAP1 TRAF7 WBP11 TREX1 NIPBL BSND NUP107 PBX1 ATP6V1B2 NSUN2 SMCHD1 COL7A1 PIK3CA FHL1 RPL15 SULT2B1 STIL CCDC22 EDNRA PIK3CD CPE AASS ADAMTSL1 PIGK B3GALNT2 GPX4 PIGU KCNQ1 RPL31 B4GALT7 LIPN PUF60 RBM10 MTHFR USP9X LSS CAPN15 CYP4F22 PAM16 AGA SRY CUL7 NECTIN1 RREB1 TRMT1 CSNK2A1 WASHC5 VSX1 BBS4 RPS17 FBXW11 RBMX CILK1 NSD2 GAD1 MYT1L RPS15A VIPAS39 EXOSC9 SDR9C7 DLX5 SLC3A1 SLC2A10 FOXF1 PIGV PTPRF IFT27 GLB1 POLA1 TBC1D20 MBD5 VANGL2 WARS2 CNOT2 BRPF1 KIF14 IFT74 PEX11B ZNF148 IRX5 GRIA3 FGF20 RPL5 MRPS22 RNASEH2B TOGARAM1 MARS2 AFF3 ACTG2 HBA2 FAM149B1 PIK3R1 GK DSP FGF3 SEMA5A MED25 GTPBP2 SMARCD1 PGAP3 PEX13 AFF2 PALS1 TFAP2B ADAMTSL2 AMPD2 HOXA13 TTC37 UPF3B PCGF2 WDR35 CD79B DHPS RPGRIP1 BMP1 SIX2 COL6A2 KCNAB2 AGRN ASXL3 SPRED1 MLXIPL EIF4A3 MRPS14 BCL11A TRRAP KDM6B BAZ1B HSD17B4 BLNK NR2F1 UGP2 PIGO ADGRG6 PPM1B EBF3 KDM3B SPART CASZ1 PRDM16 HBA1 TNNI2 JUP VPS53 SLC1A4 BICD2 BMPR1A FKBP6 CRLF1 CLDN4 MBTPS1 HTT TRIP13 PNPLA6 TNRC6B EMC1 KLF13 SMG8 IFT81 RIC1 BBS10 HP_ABNORMAL_LOCATION_OF_EARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LOCATION_OF_EARS ATR A2ML1 KIAA0586 SATB1 DIS3L2 BUB1B ALX3 SLC18A3 PUS7 TRPV4 KMT2D BBS1 RNASEH2A BMPER MAP2K2 RAB23 KANSL1 TCTN3 RERE MRPS28 PAX7 PPP2R5D DHCR24 CEP41 DCPS SMOC1 KAT5 BRAF NAA10 GATA1 DAG1 CENPF CBL SPEN QARS1 MAP2K1 XYLT2 MAP1B ZEB2 RBM8A CDK13 SOS2 IFIH1 SAMHD1 MYO9A MRPS16 LMOD3 EZH2 ASXL2 INPP5E NXN TUBB3 SOS1 RPS27 ALDH18A1 CHST14 TMEM70 TCTN1 AKT1 GRIP1 PIGN FIG4 COL11A1 NRAS BBS9 KCNJ2 CTBP1 NOTCH3 MKS1 GPT2 PRKCZ ACTB PLAG1 PEX6 OTUD6B RSPRY1 FGFR2 SCAPER STXBP1 VAC14 ZNF699 CEP290 CTCF ROR2 EFTUD2 MEG3 ATPAF2 CDT1 RARB MAPK8IP3 FKRP GLIS3 EXT1 RPS29 RPS10 ZDHHC9 OSGEP NCF1 TMEM237 CREBBP FOXL2 B9D1 FDFT1 POLE ATRX KIF15 PUM1 PITX1 MYOD1 DPH1 ITGA8 RRAS2 SETBP1 B3GALT6 YWHAE DHODH COG5 GBA GNS SLC25A1 CD96 FLNA PRRX1 BCL7B PTEN GREB1L CNOT1 RPS24 B4GAT1 ADNP CHUK KLHL41 COL13A1 TBL1XR1 BICRA PPP1R21 NTNG2 B3GAT3 SCYL2 ACER3 BUB1 AHI1 COMT PIGB RAB3GAP2 DONSON PDE4D MAPRE2 DVL1 C12orf57 COG1 FAT4 PTCH1 CHSY1 CDK10 SRCAP ORC4 KIAA1109 CHAT SHOC2 ELN TBCE ACAN EIF4H COL4A1 LMX1B RAB18 PACS1 GLUL HRAS ITCH HMGA2 NEB B9D2 CRPPA RRAS CDH11 TMEM94 AFF4 BRD4 BUD23 KAT6A FBN1 DHX16 HIRA STAG2 PPP1CB CLDN3 SLC39A8 ATN1 RPS26 TBX1 CC2D2A SETD5 ATP6V1A TMEM216 IGF1R SYNGAP1 MED27 SIM1 HSPG2 TAB2 BCL11B TBX15 DZIP1L SDCCAG8 SMG9 ZMPSTE24 AMER1 TMEM165 AUTS2 FKTN RALA ERMARD MAB21L1 POMGNT1 STAG1 CFAP418 QRICH1 ADAT3 ATP6V1E1 CPT2 SUFU RAPSN GLE1 CANT1 AHDC1 KIFBP PEX10 CENPJ KLHL40 MRPL12 IGF2 EIF5A CEP57 LMNA EDEM3 TMEM270 RXYLT1 TRIM32 NFIA MN1 CEP19 PDPN KYNU RAF1 HMGB3 ZBTB18 RPS28 RPL10 SMPD4 ZMIZ1 IREB2 GPC4 BUB3 STRA6 RIT1 POMT2 BMP2 EYA1 POLR3A RIPPLY2 POR ARMC9 RPL18 KAT6B PEX1 DNMT3B HYLS1 SLC25A24 ESCO2 HELLS KMT2A BBS12 CHRNG OCLN GNAI3 NFIX RTL1 RTTN NPHP1 ADSL MESP2 ZIC3 PTF1A GLI3 HOXB1 NSDHL SMC3 LARGE1 ATP6V0A2 ALX1 CHST3 NELFA ERF RAC1 BMP4 ADAMTS18 FGFR3 BBS5 MGAT2 EEF1A2 BBS7 CEP104 EED ARID2 METTL27 CEP120 MAPK1 CDC6 ARID1B MAP3K7 NALCN SLC6A9 RELN KIF7 PSMD12 MYSM1 MUSK PAX1 PEX14 PPP1R12A CDCA7 PEX26 ZC4H2 PHACTR1 CWC27 UBE3B ZBTB20 EPG5 SON COLEC11 UMPS MVK DOCK6 FGFR1 PIGS PDE6D SPECC1L GPC3 SH3PXD2B TFAP2A CDC42 LUZP1 TGDS SRD5A3 GJA1 KDM4B PEX12 FLNB GNE TRPS1 RFC2 AP3B1 WNT5A USP7 KCNJ5 TAF1 B3GLCT HS6ST2 SLC26A2 CCNK ALG9 IFT172 OGT FN1 NOTCH2 NEU1 CPLANE1 WAC ORC6 DDX6 PIGG COG7 PLCB4 TMEM107 VPS33B RNASEH2C SMAD4 COX7B CLIP2 AP3D1 EBP RMRP WNT4 ABHD11 POGZ ZBTB24 ALG8 MMACHC SNAP25 DOK7 MEGF8 PIGT KDM6A ACOX1 ACTA1 LMBRD1 VARS1 CAMKMT CCBE1 NUP88 DST PEX2 STX1A LARP7 MITF DDR2 TPM2 MRAS WDPCP FANCD2 TMEM260 SNRPB PEX5 RPS19 HES7 PSAT1 EXOC2 MYO18B MED12 SMC1A KATNIP ASXL1 TWIST2 OFD1 FAM20C PYCR2 ALG6 YY1 RPL11 XYLT1 TMEM67 RPGRIP1L SUZ12 OTX2 FRMD4A UFD1 RNU4ATAC MAF RIPK4 STAMBP LZTR1 GALNT2 POMT1 RALGAPA1 SOD1 SOX4 CSPP1 TAPT1 GTF2IRD2 GP1BB METTL5 STAC3 SKI TTC8 CTSD TMEM231 CHD4 PIEZO2 HDAC6 VPS37D BRF1 PRKDC TWIST1 PCNT RAB3GAP1 NARS1 PLOD3 PPP2R3C EFEMP2 TTI2 KCTD1 PTH1R WNT7A TCTN2 GTF2I HDAC8 SATB2 LFNG ADA2 KRAS ARL6 INTS1 MAN1B1 MEF2C EXOSC2 HOXD13 MBTPS2 DDB1 MMP23B SF3B4 PKHD1 MCTP2 PEX3 C2CD3 UBR7 SOX9 EFL1 DHX30 INSR CDKN1C ATIC WDR37 KIAA0753 FREM2 ARL13B PPM1D NUP188 AIFM1 CHAMP1 TBL2 EP300 PYCR1 ZNF423 CBY1 ARL3 MEIS2 NF1 FBXO11 OTUD5 TUBB IGBP1 SLC12A2 SMS RPS20 KCNK4 PORCN COLEC10 MADD RET UNC80 DVL3 POMGNT2 CACNA1G SOX6 LBR SPINT2 HUWE1 RAI1 RPL26 COL11A2 DNAJC30 GMNN SYT2 ERCC4 DLK1 CDH2 CEP55 MPDZ CHD7 BBIP1 ANTXR1 ADAR MCM5 OCRL PTPN11 TXNDC15 TASP1 SETD1A SEPTIN9 IFT52 RAD21 TALDO1 BRCC3 SEC24C PURA LZTFL1 RPL27 CAMK2G RPS23 TMEM138 INTU SOX11 JMJD1C PRPS1 ORC1 TLK2 CNTNAP1 PEX16 CPLX1 TRAF7 WBP11 TREX1 NIPBL PBX1 NSUN2 HERC1 FHL1 LRRC8A RPL15 DHCR7 UBE4B MYH3 RUSC2 CCDC22 EDNRA PIBF1 MAGEL2 SOX5 FGF10 TBC1D24 B3GALNT2 GPX4 LRP2 PIGU PLAA GPKOW TPM3 RPL31 MECP2 B4GALT7 SIAH1 PUF60 RBM10 MTHFR ZNF462 USP9X WNT3 ALX4 MED13L ERCC1 CHRNA1 TBR1 ZNF292 ARVCF LETM1 PAM16 ALG13 SRY FGD1 PRDX1 RREB1 FZD2 CSNK2A1 WASHC5 BBS4 BBS2 RPS17 SLC5A7 CILK1 HS2ST1 NSD2 GAD1 RPS15A CNOT3 WDR73 DLX4 BCOR VIPAS39 EXOSC9 CCNQ GTF2IRD1 MYCN ERCC5 FANCB GATA4 CAMTA1 SLC3A1 RSPO2 RPL35 FOXF1 TENM3 RPL35A PIGV IFT27 GLB1 POMK EDN1 TBC1D20 TSR2 MBD5 VANGL2 WARS2 CNOT2 TMCO1 TCF20 SEMA3E RECQL4 KIF14 IFT74 ATP6V1B2 PEX11B IRX5 TBX2 DLL3 FGF20 RPL5 MRPS22 PCLO RNASEH2B ECE1 TOGARAM1 MARS2 ADAMTS3 CTNND2 CHRND DSE SMARCA2 SPOP KAT8 AFF3 ACTG2 HBA2 MSL3 COL2A1 FAM149B1 GK FGF3 MKKS ARX SEMA5A MED25 GTPBP2 PLVAP PEX13 TFAP2B RB1 LIFR RDH11 SMARCD2 TTC37 UPF3B PCGF2 GPC6 WDR35 DHPS DYNC2LI1 KCNH1 RPGRIP1 SIX2 LAT2 KCNAB2 AGRN PEX19 ASXL3 PREPL SPRED1 MASP1 RPS7 EIF4A3 MRPS14 BCL11A LIMK1 FRAS1 CDC45 TRRAP BAZ1B HSD17B4 PHOX2B CHD3 MESD DPF2 UGP2 ADGRG6 PPM1B LIG4 EBF3 SPART CASZ1 VAMP1 PRDM16 HBA1 EXOC7 ACP5 FLI1 PAFAH1B1 SLC1A4 BMPR1A ATP6AP2 FKBP6 CRLF1 NSD1 CLDN4 RASA2 MBTPS1 TRIP13 MLXIPL PNPLA6 CTU2 SMG8 GABRD IFT81 BBS10 HP_POSTERIORLY_ROTATED_EARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIORLY_ROTATED_EARS A2ML1 GTF2I HDAC8 B3GALT6 SATB1 BUB1B DIS3L2 LFNG ALX3 KRAS FBN1 TRPV4 KMT2D BBS1 ARL6 RAB3GAP1 MAP2K2 RTL1 EXOSC2 HOXD13 PEX10 TCTN3 ALG9 MMP23B SF3B4 RAF1 RERE PEX3 C2CD3 MRPS28 PAX7 DHCR24 CEP41 SMOC1 PLCB4 BRAF DAG1 FAM20C TCTN1 CBL SPEN QARS1 MAP2K1 MAP1B ZEB2 RBM8A CDK13 SOS2 KIAA0753 FREM2 MGAT2 PPM1D TMEM237 EZH2 ASXL2 NXN TBL2 SOS1 PYCR1 ZNF423 CHST14 FBXO11 OTUD5 GRIP1 PIGN NRAS TUBB BBS9 CTBP1 NOTCH3 COG1 PRKCZ NSDHL PEX6 HSPG2 DVL1 SCAPER PPP1CB ZNF699 CEP290 CTCF ROR2 MEG3 UNC80 CDT1 RPGRIP1L POMGNT2 EXT1 TMEM67 NCF1 HUWE1 RAI1 KIAA0586 B9D1 FDFT1 POLE ASXL1 ATRX COL11A2 DNAJC30 GMNN MYOD1 DLK1 CDH2 RRAS2 DHODH COG5 GBA MPDZ SLC26A2 CD96 CHD7 BBIP1 FLNA FGFR2 PRRX1 BCL7B OCRL PTPN11 TXNDC15 B4GAT1 RAD21 ADNP TBL1XR1 LZTFL1 BICRA SPECC1L BUB1 PIGB TMEM138 RAB3GAP2 PDE4D MAPRE2 INPP5E SOX11 TLK2 CDK10 PEX16 SRCAP ORC4 CPLX1 KIAA1109 SHOC2 ELN TBCE ACAN EIF4H COL4A1 RAB18 HRAS ITCH GLI3 B9D2 NSUN2 CRPPA RRAS CDH11 AFF4 HERC1 FHL1 DHCR7 UBE4B RUSC2 BRD4 BUD23 KAT6A MKS1 DHX16 CLDN3 SOX5 ATN1 RPS26 ALX1 KIF7 TMEM216 B3GALNT2 GPX4 LRP2 PIGU BCL11B PLAA SDCCAG8 SMG9 CPLANE1 CC2D2A AMER1 TMEM165 NF1 NAA10 SIAH1 PUF60 RBM10 RALA ERMARD USP9X MAB21L1 ZC4H2 POMGNT1 CFAP418 SKI CPT2 RAPSN ERCC1 CANT1 WAC TBR1 LETM1 B3GLCT SRY FGD1 FZD2 LZTR1 TMEM270 BBS4 RXYLT1 BBS2 TRIM32 GLE1 MN1 CEP19 PDPN HS2ST1 NSD2 SMPD4 GPC4 TFAP2A RPS28 BUB3 RIT1 BCOR POMT2 BMP2 TMEM231 GTF2IRD1 RIPPLY2 POR FKRP MYCN AHI1 KAT6B PEX1 HYLS1 SLC25A24 ESCO2 MVK BBS12 NUP88 SLC3A1 GNAI3 NFIX PIGV RTTN IFT27 NPHP1 POMK MESP2 EDN1 HOXB1 SMC3 MYH3 LARGE1 NELFA ERF WNT5A TBC1D20 BMP4 CSPP1 ADAMTS18 BBS5 BBS7 XYLT2 TMCO1 ARID2 METTL27 CEP120 NIPBL MAPK1 TCF20 SEMA3E RECQL4 ARID1B IFT74 MAP3K7 PEX11B MUSK PEX14 CDC42 DLL3 PEX26 CDC6 FRMD4A MAF MRPS22 UMPS PIGS PDE6D GPC3 ECE1 TOGARAM1 CTNND2 LUZP1 TGDS DSE SMARCA2 SPOP YY1 KDM4B TRPS1 RFC2 AP3B1 ORC1 ACTG2 HBA2 COL2A1 POMT1 FAM149B1 CCNK IFT172 FN1 FGFR1 ORC6 MKKS SEMA5A POGZ PIGG PEX13 TMEM107 PEX12 SLC18A3 SMARCD2 COX7B CLIP2 RMRP ABHD11 GPC6 DOK7 KCNH1 RPGRIP1 SIX2 CAMKMT LAT2 KDM6A PEX2 STX1A KCNAB2 MITF DDR2 FKTN MRAS PEX19 WDPCP ASXL3 PREPL SPRED1 SNRPB PEX5 HES7 SMC1A LIMK1 FRAS1 CDC45 TRRAP BAZ1B XYLT1 PHOX2B MESD SUZ12 DPF2 OTX2 POLR3A DVL3 OFD1 NALCN PPM1B LIG4 EBF3 CEP57 CASZ1 PRDM16 GALNT2 HBA1 SOD1 SOX4 TAPT1 FLI1 GTF2IRD2 RNU4ATAC METTL5 TTC8 FKBP6 NSD1 CLDN4 PIEZO2 RASA2 MBTPS1 VPS37D TRIP13 MLXIPL PNPLA6 TCTN2 PPP2R3C EED SMG8 GABRD BBS10 HP_ABNORMALITY_OF_THE_INNER_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_INNER_EAR A2ML1 SIX1 EYA1 AKT1 PTPN11 GJB2 SLC26A4 NRAS POLR1D RIT1 MAFB ERF OTX2 GREB1L COCH ESRP1 SOX10 FGF3 FOXI1 KRAS FGFR2 ORC1 TIMM8A USH1C ADGRV1 MRAS COL4A6 PTEN RAF1 ESPN NF2 PEX6 NDP PDZD7 LZTR1 CDH23 KCNJ10 KARS1 PCDH15 FGFR3 DDX11 USH2A HRAS SIX5 POLR1C CBL TCOF1 POU3F4 PRKAR1A CIB2 TP63 RRAS RASA2 SOS2 MYO7A CEP78 POLR1B RRAS2 SRCAP TWIST1 SETBP1 ARSG MT-TS2 CHD7 PRRX1 USH1G SALL4 SOS1 SEMA3E VHL HARS1 GJB6 WHRN CLRN1 CHN1 HP_TINNITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TINNITUS SDHD CACNA1A PDGFB SCN1A SDHC TERT CLCNKB COCH VHL MPL CLCN2 BAP1 CYP11B1 DKK1 TMC1 TET2 OSBPL2 NF2 DIABLO SMARCB1 DLST CYP11B2 CCND1 AIFM1 KCNQ4 SDHB RET AKT1 CACNA1D TRAF7 EPAS1 SDHA MAX FH TMEM127 DSPP SLC39A14 DNMT3A SLC25A11 PIK3CA SMARCE1 SUFU NAGA KIF1B KCNJ5 SDHAF2 PMP22 JAK2 MIR96 SLC44A4 ATP1A2 MFN2 SLC12A3 P2RX2 PRRT2 GRM1 NF1 SMO MDH2 HP_OTOSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OTOSCLEROSIS GDF6 COL1A1 IDS COL1A2 PSMD12 BPTF HP_ABNORMALITY_OF_EARLOBE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_EARLOBE SEC24C TBX1 TBL1XR1 BICRA CDH11 PIK3CA AHDC1 COMT PIGB SMOC1 SLC35C1 POLR3A FIG4 RDH11 SLC26A2 HCCS JMJD1C ESCO2 SPEN RBBP8 ABHD5 ATRIP EIF2S3 PTPRF BRAF COL3A1 FGD1 EP300 ZEB2 NDUFB11 CEP152 BMP4 RAC1 MLXIPL CENPE KCTD1 MGAT2 PLAGL1 HRAS GLI3 KAT6A PLK4 MAPK1 HIRA SEMA3E CDC6 CUL4B PIGY OTUD5 GRIA3 TRAIP DHCR24 SMS ELN PCNT UFD1 EBF3 HBA1 ATR B4GALT7 EFTUD2 RBM10 CENPJ DOCK7 VPS53 EHMT1 FLI1 GP1BB GJA1 FGFR2 DPYD CREBBP HYMAI ARVCF PHF6 POR HBA2 COL2A1 IL1RAPL1 PIGQ CRKL COX7B VPS13B UGDH SETBP1 BCR RREB1 FN1 NOTCH2 CHD7 SMARCD1 HS2ST1 KMT2C HP_LOW_SET_POSTERIORLY_ROTATED_EARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_SET_POSTERIORLY_ROTATED_EARS NSD2 A2ML1 GPC4 TFAP2A GTF2I HDAC8 BUB3 BUB1B LFNG ALX3 RIT1 BCOR KRAS TMEM231 GTF2IRD1 RIPPLY2 POR TRPV4 BBS1 ARL6 AHI1 RAB3GAP1 MAP2K2 HYLS1 TMEM237 RAF1 HOXD13 RAB3GAP2 BBS12 PEX10 TCTN3 MMP23B SF3B4 SLC3A1 RERE C2CD3 PEX3 MRPS28 RTL1 RTTN IFT27 MKS1 NPHP1 CEP41 PLCB4 MESP2 EDN1 TCTN1 MYH3 CBL SPEN TMEM216 MAP2K1 ALX1 NELFA RBM8A ERF PTPN11 TBC1D20 SOS2 CSPP1 FREM2 BBS5 MGAT2 BBS7 EZH2 TMCO1 NXN ARID2 METTL27 CEP120 NIPBL MAPK1 TBL2 SOS1 SEMA3E RECQL4 IFT74 ZNF423 KIF7 PEX11B PEX14 GRIP1 PIGN NRAS TUBB DLL3 BBS9 CTBP1 COG1 PEX26 PRKCZ FRMD4A BRAF PEX6 HSPG2 UMPS MVK SCAPER PDE6D CEP290 CTCF ROR2 UNC80 GPC3 CTNND2 RPGRIP1L CDC42 LUZP1 TGDS DSE EXT1 PLAA TMEM67 NCF1 RAI1 TRPS1 KIAA0586 RFC2 B9D1 FDFT1 ASXL1 ACTG2 HBA2 FAM149B1 DNAJC30 B3GLCT CHST14 DLK1 RRAS2 ARID1B IFT172 B3GALT6 DHODH GBA SLC26A2 CD96 CHD7 BBIP1 FGFR2 PRRX1 BCL7B MKKS OCRL SEMA5A TXNDC15 PIGG PEX13 RAD21 ADNP TMEM107 LZTFL1 PEX1 PEX12 BUB1 TMEM138 SMOC1 SHOC2 INPP5E CLIP2 RMRP ABHD11 PEX16 CPLX1 ELN RPGRIP1 ACAN EIF4H CAMKMT RAB18 LAT2 ITCH PEX2 STX1A GLI3 KCNAB2 PEX19 B9D2 NSUN2 WDPCP PREPL RRAS AFF4 HERC1 SPRED1 PEX5 UBE4B HES7 BRD4 BUD23 HRAS KAT6A LIMK1 PPP1CB CLDN3 SKI FRAS1 BAZ1B XYLT1 SUZ12 GNAI3 OTX2 DHCR24 ALG9 OFD1 NALCN PPM1B LIG4 MRAS SDCCAG8 FGFR1 CPLANE1 CEP57 CASZ1 CC2D2A PRDM16 MEG3 SMC3 LZTR1 GALNT2 HBA1 NF1 NAA10 SLC25A24 DHCR7 RBM10 SOD1 ERMARD USP9X SMC1A FLI1 GTF2IRD2 ZC4H2 CFAP418 METTL5 TBCE TTC8 ERCC1 CANT1 TBR1 FKBP6 LETM1 NSD1 CLDN4 RASA2 VPS37D TRIP13 SRY FGD1 MLXIPL PNPLA6 KIAA0753 TCTN2 MAPRE2 TMEM270 BBS4 BBS2 TRIM32 EED GLE1 CEP19 GABRD PDPN BBS10 HP_ABNORMALITY_OF_THE_MIDDLE_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MIDDLE_EAR TNFRSF13B RNU4ATAC SH3KBP1 SDHD PROM1 KMT2E CCDC32 GTF2I HDAC8 B3GALT6 MGP ALX3 CFAP221 CCDC47 ERF PCARE FBN1 HLA-DPA1 KMT2D GJA1 PTPN22 MYCN AMMECR1 DNAAF1 VHL TAPBP RAB23 DDB1 TCTN3 TNRC6B MMP23B OFD1 WDFY3 ERCC8 IL2RG ARSL DNAAF2 SH2B1 TSHZ1 SGMS2 FGFR3 IDH3B SPTBN1 NOG ANKH DNAL1 TP63 FAM20C ANKRD11 TXNL4A DNAJB13 SPEN MAN2B1 P4HA2 CDH1 RFXAP DLK1 TPP2 ZEB2 GDF6 ZNF469 SDHB DIAPH3 ICOS TGM1 FLNB FREM2 GRIA4 SC5D DNAAF3 COL11A2 CFI SLITRK6 EYA1 GRHL3 CCDC65 ODAD1 OTOF NXN SDCCAG8 ACTL6B KCNMA1 TBL2 RSPH3 KIAA1549 IDH3A EP300 SAG TNFRSF11A CYBB RGR PRPF31 SDHC CREB3L1 GRIP1 HUWE1 CCDC39 CRX CTBP1 NOTCH3 FGFR2 BPTF RERE PRKCZ PRPH2 IMPG2 PTPN23 TOPORS UBR7 GUCA1B FAT4 PORCN CIITA SALL4 COL1A2 IGBP1 ALMS1 ZNF699 IFT88 DNAH11 ROR2 EFTUD2 ELMOD3 WAS AK2 RELB FGFRL1 CFAP300 LMNA COL2A1 EXT1 HYAL1 DNAAF11 CPLX1 MAX GAS8 NCF1 REEP6 TNFSF12 BTK HPDL SPATA7 NEK10 CR2 CNGB1 KIF15 ARHGEF18 TAF1 NFKB2 DNAJC30 HNRNPK SEMA4A DNMT3A BCORL1 RFX5 CD79A MSX1 KDM4B SRCAP SETBP1 PSMD12 DHODH FKBP14 SMARCA2 FGF9 FLNA BCL7B DNAH5 RPGR OCRL PRKCD AGO2 CNOT1 DCLRE1C NFKB1 RNF168 RAD21 ROM1 RECQL4 MDH2 JARID2 SEC24C SIX1 SPECC1L FANCI POLR1D SLC35C1 COMT RPS23 HOXA2 GMNN ANAPC1 RSPH4A ARL3 ZMIZ1 DVL1 JMJD1C DCHS1 MAGT1 IGLL1 TLK2 POR CD247 WASF1 ARL6 DNAH9 JAK3 UBB NSD1 ARHGAP29 GSC USH2A ELN RUNX2 PDE6G HEPHL1 NIPBL DNAAF4 EIF4H TTC12 CRB1 TULP1 MAK FMR1 SMCHD1 ZBTB20 SVBP PLG DOCK8 AFF4 TANC2 USB1 DHCR7 RAG1 SETD2 MED27 UBE4B SULT2B1 MYH3 CNGA1 POLR1B FSCN2 KIF1B BRD4 EDN1 CDCA7 BUD23 DHX38 DNAI1 IKBKB EDNRA LRRC56 CNOT3 RAI1 KANSL1 HIRA KLHL7 PSMB8 TCF20 CLDN3 CYBA ATN1 RPS26 CREBBP FGF10 TBX1 IGHM EYA4 KIF7 ABCC6 KAT8 STAT3 TBX4 IL17RA HSPG2 KIZ RAC2 PLCG2 TTC8 NBN MNS1 RLBP1 RPE65 ODAD3 CPLANE1 LRBA AMER1 HAX1 LIPN AIFM1 DOCK3 MEG3 PRPF6 MS4A1 RET IL6R SKI ADAT3 EPAS1 FH KDM6A RDH12 SIX5 POLR1C CFAP418 TUB PRPF4 CHRNG ARVCF LETM1 CYP4F22 AGA STK36 FCGR3A SRY SLC25A11 MAP3K7 KIAA0753 RP2 RTL1 COL1A1 RBP3 SDHAF2 FAM161A RREB1 NAA10 EIF5A TRMT1 TMEM270 TRAPPC4 CTLA4 POMGNT1 SATB1 FBXW11 PDPN CXCR4 NF1 MADD NSD2 TENT5A MYT1L TFAP2A LONP1 RPS28 CD19 GJB2 CDH11 BMP2 CA4 ODAD2 GTF2IRD1 ARL2BP SDR9C7 DEAF1 SLC25A24 TAP1 CD3D CD3E NTNG1 FLII IRF6 TAP2 PDE6A ALOXE3 CD81 ELMO2 CD3G PTPRC IDS BMP4 RFXANK EYS PGM3 TCOF1 TELO2 PRPF3 ALX1 NELFA ADA SLC12A2 DHDDS TMEM127 CCNO TNFSF11 DRC1 RAC1 APC2 PRCD IMPDH1 CCDC40 MEOX1 MASP1 SNX10 NCF2 LBR SYK TMEM67 TNFRSF13C ARID2 METTL27 NFIX MAPK1 PEPD NR2E3 CD4 CLCN7 PDE6B DLX4 RHO CHD7 SPEF2 WDR26 PAX1 TSR2 HS2ST1 HDAC4 IL2RB PUS7 BBS2 PNP HLA-DRB1 CD79B CARMIL2 NEK1 DLST CFAP298 PDE6D LRRC8A ZMPSTE24 UNC119 ADAMTS3 PRRX1 RP9 LUZP1 ADA2 TGDS RLIM CYBC1 ACTL6A TRPS1 HLA-DPB1 RFC2 ZNF408 AP3B1 MAPK8IP3 RSPH1 NCF4 AIRE SCAPER RP1 FAM149B1 B3GLCT PIGL PIK3R1 CERKL NKX2-1 FOXP1 AGBL5 RAG2 NME8 NOTCH2 A2ML1 NECTIN1 IL7R SNRPB ODAD4 HYDIN PIGG SLC7A14 PALS1 ABCA4 SOST KDELR2 ENPP1 GNPTAB PRTN3 DNAH1 ZNF341 SEMA3E SMARCD2 CLIP2 BCOR ABHD11 FANCF PCGF2 LRAT JAGN1 ELANE MCIDAS NIPAL4 IFT172 ALOX12B TBX22 LRP5 DNAI2 SPAG1 CCBE1 LAT2 STAC3 MBTPS2 STX1A KCNAB2 CTNND1 ACVR1 PRPF8 DDR2 RPL11 TMEM216 TRIP12 HGSNAT NRL IFT140 FOXJ1 PCYT1A AHI1 NOTCH2NLC MLXIPL ZMYND10 TCF3 HLA-B GATA2 IL21R CDHR1 IL6ST BEST1 ZNF513 NCKAP1L LIMK1 IQSEC2 FRAS1 GAS2L2 SF3B4 PRDM5 BAZ1B GDF5 FGF3 DPYSL5 BLNK DPF2 RNF2 POLR3A ERCC6 DNAAF6 GATA1 WIPF1 DDX6 MERTK UFD1 MED13 CLRN1 SNRNP200 NEK2 PIK3C2A CASZ1 AHR RSPH9 PRDM16 SMC3 NTNG2 GALNT2 ACP5 CCDC103 SMC1A GTF2IRD2 GP1BB RP1L1 SDHA POU3F4 TCIRG1 FKBP6 DNAAF5 OSTM1 CLDN4 BLM HTT VPS37D DLG1 TWIST1 ABCA12 GABRD GJB6 HP_ACUTE_OTITIS_MEDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_OTITIS_MEDIA CIITA JAK3 RFXAP RFXANK RFX5 HP_ABNORMALITY_OF_THE_AUDITORY_CANAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_AUDITORY_CANAL SOST SF3B4 FRAS1 TBC1D24 SIX1 EYA1 GRIP1 CTBP1 HDAC8 MAFB HOXA2 GMNN CDC6 MRTFA PAX1 SLC12A2 ORC1 TBX15 FAT4 MAF EFTUD2 ORC4 SMC3 COL2A1 FKTN NOTCH3 GSC POMT1 LETM1 CDT1 NSD2 GNAI3 FGFR2 SMC1A MED12 FKRP FGFRL1 TWIST2 TSHZ1 ADAM17 RPL26 CPLX1 GLI3 SIX5 DCHS1 DDR2 RPL11 CHRNG POR SMCHD1 VPS37A COL7A1 EGFR B3GLCT FREM2 TP63 PORCN BRD4 EDN1 POMT2 EDNRA SALL4 ORC6 TCOF1 SNRPB NIPBL LARGE1 CHN1 ATP6V1B2 RPS26 RAD21 CDC45 HP_ABNORMAL_COCHLEA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_COCHLEA_MORPHOLOGY SIX1 SIX5 POU3F4 SLC26A4 CIB2 GREB1L COCH EYA1 FOXI1 MYO7A ORC1 TIMM8A USH1C CEP78 COL4A6 SRCAP SETBP1 ESPN ARSG PEX6 NDP MT-TS2 CDH23 KCNJ10 USH1G PCDH15 HARS1 CLRN1 DDX11 HP_INCOMPLETE_PARTITION_OF_THE_COCHLEA_TYPE_II http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCOMPLETE_PARTITION_OF_THE_COCHLEA_TYPE_II SIX1 FOXI1 KCNJ10 EYA1 SLC26A4 ORC1 HP_ABNORMALITY_OF_THE_PINNA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PINNA ATR A2ML1 TRPS1 CCDC32 KIAA0586 PIGA COLEC10 DIS3L2 CCDC47 FAT4 SH3PXD2B ERCC8 EIF2S3 KMT2D NDE1 VPS51 MAP2K2 TUBGCP6 HNRNPK SLC9A6 RAB23 KANSL1 ABHD5 TPM2 NDP PLEC OBSL1 WDFY3 MBTPS2 ABCC8 RPS6KA3 DHCR24 RHOBTB2 BRAF NAA10 GATA1 DAG1 ANKRD11 CBL SPEN XYLT2 MAP1B ZEB2 NEXMIF SIN3A SOS2 TGM1 NIN EYA1 EZH2 CHRNA1 KCNMA1 SOS1 RPS27 ALDH18A1 CHST14 CLCF1 AKT1 HUWE1 TP63 COL11A1 NRAS CTBP1 PRKCZ ACTB OTUD6B FLNA SHH PEX5 CPOX STXBP1 NANS PAK3 ZNF699 CTCF EFTUD2 MEG3 GPC3 PHIP CDT1 DOCK7 MED12 EHMT1 ERCC2 FKRP PQBP1 LMNA EXT1 RPS29 RPS10 AP1S2 ZDHHC9 NCF1 CREBBP HYMAI FDFT1 POLE INSR ATRX CLIC2 KIF15 ZIC2 RRAS2 UGDH SETBP1 AEBP1 CLCNKA DHODH SMARCA2 CD96 UBE2A BCL7B CNOT1 RPS24 B4GAT1 FTSJ1 ARID1A CHUK JARID2 SPEG TBL1XR1 SLC2A1 BICRA RERE SNAP29 ALKBH8 B3GAT3 COMT PIGB HOXA2 RAB3GAP2 COL5A1 FIG4 MAPRE2 ZMIZ1 DCHS1 COG1 RECQL4 POR PGAP1 MPLKIP FBXL4 PTCH1 KDM5C CDC45 CDK10 PGAP2 GDF11 ZNF711 ORC4 ANTXR1 ELN EIF4H COL4A1 LMX1B RAB18 PACS1 KIFBP POLR1A CRPPA JAG1 SVBP RRAS TOR1A AFF4 TANC2 NHS FGFR1 MED27 BPTF POLR1B CENPJ BRD4 EDN1 TARS1 BUD23 HRAS KAT6A FBN1 MSX2 DHX16 HIRA STAG2 GLI2 PSMB8 DACT1 PPP1CB CLDN3 RPS26 COL6A1 PMM2 TBX1 PTDSS1 SLC12A6 SIX1 ATP6V1A FAR1 ODC1 FGFR2 SYNGAP1 PIEZO2 TBX4 H19 SIM1 HSPG2 PHGDH TAB2 TBCD TBX15 TCF4 SMG9 MAP2K1 CAMTA1 ZMPSTE24 NUP133 KDM5B FKTN DPYSL5 DISP1 ETFB CASK MAB21L1 KCNN3 PHF6 POMGNT1 DOCK3 DCAF17 QRICH1 ADAT3 CPT2 AHDC1 POLR1C FGF10 KCNH1 TOE1 LMNB1 VPS13B EIF5A CEP57 TWIST2 EDEM3 TMEM270 RXYLT1 SATB1 MN1 DPP6 PDPN RAF1 KMT2C HMGB3 ZBTB18 RPS28 RPL10 SMPD4 GPC4 KIF11 RIT1 KCNJ1 POMT2 PIGL POLR3A RPL18 PEX1 ESCO2 ATRIP ALOXE3 GNAI3 NFIX KCNQ1OT1 RTTN TRIO GLI3 TCOF1 FGD1 LARGE1 CHST3 NELFA RAC1 BMP4 FGFR3 MGAT2 MID2 PIEZO1 EED EVC RNF113A METTL27 SIX3 CDC6 ARID1B BLM TRAPPC9 NALCN CUL4B GJB3 PAX1 HECW2 TSR2 PPP1R12A ACBD5 FOXG1 HS2ST1 PPP1R15B CWC27 TRAIP UBE3B ZBTB20 PUS7 SON COLEC11 PTEN TUBGCP4 PLOD1 DOCK6 BHLHA9 NEK1 PIGS ERCC3 SPECC1L IQSEC2 TFAP2A TBX22 LUZP1 COL6A3 GJA1 RLIM TAFAZZIN KDM4B DPYD ACTL6A RFC2 MAPK8IP3 TTN PIGW LAGE3 FOXP2 IGF2 TAF1 B3GLCT HS6ST2 EBP PIGQ ITGB4 CRKL FOXP1 TET3 FN1 ALG3 ALG12 NOTCH2 PSMD12 WAC ORC6 DDX6 PIGG TGFB3 COG7 PLCB4 RAB11B ENPP1 DHX37 SMAD4 SLC35C1 PRUNE1 SHOC2 HCCS ITGA3 CLIP2 AP3D1 RMRP ABHD11 OPHN1 MEGF8 KDM6A LETM1 ALOX12B LMBRD1 COL3A1 STX1A DDR2 TRIP12 CCDC8 EP300 GRIA4 RPS19 PSAT1 LAS1L EXOC2 SMC1A NKAP MAPK1 ERCC6 EVC2 PYCR2 HYLS1 YY1 PIGY RPL11 WDR73 SUZ12 ARX BMP2 TBC1D23 ALG9 FRMD4A UFD1 MED13 RNU4ATAC MRAS MAF TNNT3 RIPK4 FBN2 BIN1 SMC3 KIF1A LZTR1 POMT1 FGF8 CSPP1 TAPT1 GTF2IRD2 GP1BB METTL5 FMR1 SKI DYRK1A CHD4 VPS37D TWIST1 PCNT RAB3GAP1 NARS1 PLOD3 PPP2R3C EFEMP2 TTI2 TCTN3 KCTD1 ERCC4 STEEP1 ABCA12 KDSR SF3B4 WNT7A KAT6B KMT2E NF1 GTF2I HDAC8 ADA2 ITGB6 POU3F3 KRAS INTS1 AMMECR1 RTL1 AP4E1 MAN1B1 RBBP8 SPOP GPR101 DDB1 MMP23B DNAJC21 RSPO2 C2CD3 SPTBN1 FAM20C TXNL4A AIP CENPE MGP MECP2 SLC16A2 B9D2 NUP188 PLAGL1 ACTL6B TBL2 SHANK3 PYCR1 KCNJ11 FBXO11 OTUD5 WDR4 ERF IGBP1 PTPN23 SMS RPS20 UBR7 HHAT SSR4 WNT4 CLCNKB PIGN ALMS1 ADNP AHSG MYH3 POMGNT2 FGFRL1 SLC6A8 SOX6 FANCL CPLX1 HPDL RPL26 DNAJC30 IL1RAPL1 GMNN OSGEP TP53RK SALL1 BCORL1 CDH2 BCR SLC26A2 CHD7 UBA1 MCM5 OCRL GTF2H5 AGO2 PTPN11 TASP1 WFS1 SETD1A POC1A RAD21 CCNQ SEC24C RPL27 POLR1D CAMK2G RPS23 JMJD1C GJB4 ORC1 ERCC1 ACTG1 WASF1 SET TRAF7 DENND5A ASNS NIPBL BSND NUP107 PBX1 ATP6V1B2 PSMC3 NSUN2 SMCHD1 CDKN1C HERC1 PIK3CA RPL15 UBE4B SULT2B1 PORCN STIL EDNRA PLK4 CNOT3 FRMPD4 PIK3CD SCARF2 CPE TCF20 AASS ADAMTSL1 PIGK ETFDH LGI4 ABCC6 KAT8 B3GALNT2 KCNQ1 NBN GTF2E2 YME1L1 RYR1 RPL31 B4GALT7 LIPN SIAH1 PUF60 CEP120 RBM10 ZNF462 WDR19 KATNB1 LSS MED13L ZNF292 CLTC ARVCF CAPN15 CYP4F22 KCNK9 PAM16 AGA COX7B PRDX1 CUL7 NECTIN1 RREB1 TRMT1 TRAPPC4 RPS17 FBXW11 RBMX CILK1 MADD NSD2 FIBP GAD1 MYT1L THOC2 ERLIN2 FOXL2 RPS15A LONP1 DLX4 CDH11 BRWD3 CHRNA7 GTF2IRD1 KNSTRN SDR9C7 KIF7 ZNHIT3 DLX5 SLC6A17 FANCB NTNG1 RPL35 SLC2A10 TENM3 PIGV PTPRF TRMT10A RPL35A GLB1 POMK BCOR SLC12A2 NDUFB11 POLA1 TBC1D20 MBD5 MEOX1 TPRKB ETFA WNT3 BRPF1 CIT SEMA3E ZNF148 TBX2 GRIA3 RPL5 AMER1 PCLO ECE1 INTU DSE TGDS HBA2 MSL3 APC COL2A1 PAH PTF1A DSP FGF3 GTPBP2 LRP4 SMARCD1 PGAP3 AFF2 PALS1 C12orf57 TFAP2B ADAMTSL2 RB1 RAI1 AMPD2 HOXA13 SMOC1 RDH11 SMARCD2 PAK1 TTC37 UPF3B MMACHC FANCF PCGF2 WDR35 NIPAL4 GNB1 RSPRY1 BMP1 MAN2B1 LAT2 HSPA9 COL6A2 KCNAB2 MINPP1 CEP152 MASP1 TUBGCP2 MLXIPL RPS7 EIF4A3 BCL11A BSCL2 LIMK1 PEX2 KDM6B FRAS1 BAZ1B NR2F1 MESD DPF2 RNF2 PIGO LIG4 EBF3 KDM3B CASZ1 PIK3R1 PRDM16 NTNG2 HBA1 TNNI2 JUP VPS53 FLI1 SLC1A4 BICD2 DDX11 FKBP6 NSD1 AGPAT2 CLDN4 RASA2 MBTPS1 HTT PNPLA6 CTU2 TNRC6B EMC1 KLF13 MAP3K7 SMG8 GABRD DLK1 RIC1 GBA HP_CUPPED_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUPPED_EAR FRAS1 SIX1 ODC1 PAX1 FOXL2 TBX2 BRWD3 POU3F3 PIGL PQBP1 EYA1 TWIST1 IGBP1 SEMA3E PIGO SMS TCF4 RIPK4 PGAP2 DNAJC21 KDM6A FGFR2 CTCF FBXW11 ECE1 GNAI3 ZNF462 PIGV MED12 FGFR3 DHCR24 QRICH1 DDX11 SPTBN1 BCOR DHODH HUWE1 ZNF292 FGF10 PIGW CHD4 AFF4 SIN3A MBD5 PIGY EIF5A EDNRA PIEZO1 DACT1 KCTD1 BCL11A ZEB2 PGAP3 PIGN CHD7 HP_STAPES_ANKYLOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STAPES_ANKYLOSIS NOG ABCC6 POU3F4 ENPP1 GJB6 GJB2 HP_ABNORMALITY_OF_PERIAURICULAR_REGION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PERIAURICULAR_REGION SIX1 GATA6 TBX1 TFAP2A CTBP1 UBE3B POLR1D ALX3 MAFB BCOR EYA1 PAX1 KIF7 KMT2D JAG1 GDF1 EFTUD2 RAB23 GSC LETM1 WBP11 NSD2 GNAI3 EIF2AK3 STAG2 PLCB4 FGFR1 EDN1 KDM6A GATA5 ANKRD11 TXNL4A TCOF1 MITF CITED2 ALX1 XYLT2 TMEM260 ZFPM2 SIX5 POLR1B NKX2-5 CCDC22 FLT4 EDNRA SYK LRP5 KAT6A SALL4 GPC4 SEMA3E ARID1B DACT1 GATA4 NKX2-6 SF3B4 IRX5 ODC1 SALL1 SNRPN SPECC1L AUTS2 PIGS PPP1CB NAA10 HNRNPU GPC3 ZNF462 CTNND2 EXT2 HK1 FGFRL1 MED13L HNRNPK CPLX1 FGFR2 LRP1 POLR1C GJA5 ANK1 SVBP MSL3 COL2A1 FLNB B3GLCT VPS13B FN1 WASHC5 PRMT7 KCNJ2 CHD7 UBE2A SEMA5A TASP1 CHN1 HP_PREAURICULAR_SKIN_TAG http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREAURICULAR_SKIN_TAG SF3B4 SIX1 EYA1 IRX5 CTBP1 ODC1 UBE3B POLR1D ALX3 MAFB BCOR GNAI3 SALL1 KIF7 EFTUD2 SNRPN PIGS NAA10 LETM1 HNRNPU GPC3 WBP11 NSD2 CTNND2 EXT2 FGFRL1 MED13L KMT2D STAG2 PLCB4 CPLX1 FGFR1 EDN1 KDM6A SIX5 POLR1C ANKRD11 TXNL4A TCOF1 ALX1 SVBP MSL3 COL2A1 FLNB B3GLCT TMEM260 POLR1B VPS13B CCDC22 EDNRA FN1 WASHC5 PRMT7 LRP5 CHD7 SALL4 GPC4 SEMA3E SEMA5A ARID1B TASP1 DACT1 CHN1 HP_SMALL_EARLOBE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_EARLOBE TBX1 SEC24C KCTD1 ABHD5 RREB1 FN1 KAT6A AHDC1 ARVCF COMT RBM10 SLC35C1 HIRA FIG4 COL2A1 PTPRF CDC6 JMJD1C GP1BB SMS UFD1 EBF3 HP_ABSENT_EARLOBE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_EARLOBE CENPE ATRIP COL3A1 CREBBP ATR B4GALT7 PLK4 POLR3A EP300 CENPJ CEP152 TRAIP ESCO2 PCNT RBBP8 HP_OTITIS_MEDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OTITIS_MEDIA NSD2 TNFRSF13B RNU4ATAC SH3KBP1 GTF2I CD19 MGP CFAP221 CCDC47 HLA-DPA1 ODAD2 GTF2IRD1 SDR9C7 RAI1 KMT2D DEAF1 NFKB2 TAP1 DNAAF1 CD3D CD3E TAPBP OFD1 FLII IRF6 ICOS CD79A TAP2 DDB1 TNRC6B ALOXE3 CD81 CD3G PTPRC IL2RG DNAAF2 FGFR3 IDS BMP4 RFXANK SPTBN1 DNAL1 TP63 TPP2 ANKRD11 DNAJB13 MAN2B1 RFXAP NELFA ADA DLK1 KANSL1 ZEB2 CCNO TNFSF11 DRC1 TGM1 RAC1 APC2 CCDC40 DNAAF3 CFI GRHL3 CCDC65 SNX10 NCF2 LBR ODAD1 SYK TNFRSF13C NXN SDCCAG8 METTL27 MAPK1 TBL2 RSPH3 CD4 CLCN7 EP300 JAK3 MAP3K7 DLX4 CYBB SPEF2 WDR26 CCDC39 CTBP1 FGFR2 IL2RB PNP CD79B CIITA CARMIL2 CFAP298 ALMS1 DNAH11 LRRC8A ROR2 UNC119 WAS AK2 RELB CFAP300 ADA2 TGDS HYAL1 DNAAF11 CDH1 GAS8 NCF1 CYBC1 TNFSF12 HLA-DPB1 RFC2 BTK AP3B1 NEK10 CR2 KIF15 RSPH1 NCF4 TAF1 DNAJC30 PIK3R1 RFX5 MSX1 FOXP1 RAG2 NME8 A2ML1 PSMD12 SMARCA2 NECTIN1 IL7R BCL7B DNAH5 ODAD4 RPGR OCRL PRKCD DCLRE1C NFKB1 PGM3 HYDIN PIGG RNF168 SEC24C GNPTAB PRTN3 SLC35C1 COMT DNAH1 ANAPC1 ZNF341 RSPH4A SMARCD2 JMJD1C CLIP2 MAGT1 IGLL1 TLK2 CD247 BCOR ABHD11 DNAH9 SRCAP CPLX1 JAGN1 UBB NSD1 ARHGAP29 ELANE MCIDAS KDM6A NIPAL4 ELN ALOX12B RUNX2 HEPHL1 DNAI2 NIPBL DNAAF4 EIF4H TTC12 SPAG1 LAT2 STX1A FMR1 RPL11 CREBBP DOCK8 USB1 DHCR7 RAG1 FOXJ1 PCYT1A SETD2 SULT2B1 BPTF MLXIPL ZMYND10 BUD23 TCF3 DNAI1 IKBKB LRRC56 GATA2 IL21R IL6ST HIRA NCKAP1L RTL1 PSMB8 LIMK1 IQSEC2 CLDN3 CYBA ATN1 FLNA ADAT3 GAS2L2 TBX1 BAZ1B IGHM FGF3 STAT3 BLNK DPF2 RNF2 POLR3A TBX4 IL17RA DNAAF6 RAC2 WIPF1 PLCG2 NBN UFD1 MNS1 ODAD3 RSPH9 LRBA LIPN ACP5 CCDC103 GTF2IRD2 GP1BB MEG3 MS4A1 IL6R PTPN22 TCIRG1 FKBP6 ARVCF LETM1 CYP4F22 DNAAF5 CLDN4 AGA BLM STK36 VPS37D COL2A1 FCGR3A SRY DLG1 RREB1 NAA10 TMEM270 CTLA4 ABCA12 CXCR4 HP_CHRONIC_OTITIS_MEDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_OTITIS_MEDIA NSD2 SEC24C GTF2I PRTN3 NFKB2 CFAP221 COMT DNAH1 HLA-DPA1 ODAD2 GTF2IRD1 RSPH4A SDR9C7 RAI1 DEAF1 JMJD1C DNAAF2 CLIP2 TNFRSF13B IGLL1 TAP1 WAS ABHD11 TAPBP OFD1 DNAH9 FLII IRF6 ICOS CPLX1 TAP2 ALOXE3 CD81 CD79B MCIDAS NSD1 NIPAL4 ELN ALOX12B RUNX2 DNAAF4 EIF4H TTC12 LAT2 DNAL1 CR2 TP63 DNAAF1 ANKRD11 STX1A DNAJB13 FMR1 CFAP300 NELFA DOCK8 CCNO DRC1 CCDC65 TGM1 FOXJ1 SETD2 SULT2B1 APC2 SPAG1 ZMYND10 BUD23 DNAI1 GATA2 NEK10 ODAD1 NXN METTL27 TBL2 HIRA RSPH3 LIMK1 IQSEC2 CLDN3 CD19 GAS2L2 SPEF2 TBX1 BAZ1B DNAI2 CCDC39 STAT3 BLNK CTBP1 FGFR2 TBX4 DNAAF6 TNFSF12 WIPF1 UFD1 ODAD3 CARMIL2 RSPH9 IGHM DNAH11 LIPN LRRC8A ROR2 DNAAF3 TNFRSF13C CCDC40 CCDC103 GTF2IRD2 AK2 GP1BB TGDS MS4A1 PTPN22 GAS8 NCF1 HLA-DPB1 RFC2 BTK FKBP6 ARVCF LETM1 CYP4F22 TCF3 RSPH1 DNAAF5 TAF1 CLDN4 DNAJC30 AGA PRKCD VPS37D PIK3R1 MLXIPL CD79A MSX1 RREB1 NME8 TMEM270 NECTIN1 CTLA4 BCL7B DNAH5 ODAD4 RPGR OCRL ABCA12 DNAAF11 CFAP298 NFKB1 LRRC56 PGM3 HYDIN PIGG STK36 HP_THICKENED_HELICES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICKENED_HELICES PIGY ADAMTSL2 RB1 A2ML1 PTPN11 TCF4 DIS3L2 NRAS RIT1 KRAS PIGL PIGO BMP2 SMS MRAS RAF1 MAP2K1 PGAP2 SPOP GDF11 LZTR1 PIGS PPP1CB PIGV FGFR2 SOS1 CBL PBX1 XYLT2 PIGW BRAF RRAS RASA2 DYRK1A TAF1 SOS2 CDH2 RRAS2 FBN1 EDEM3 MAP2K2 PGAP3 HP_LOP_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOP_EAR CCNQ C12orf57 COL5A1 SEMA3E IGBP1 CHD7 HP_PROMINENT_ANTIHELIX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_ANTIHELIX SLC16A2 MGAT2 BICRA KAT6A EVC RBM10 TOR1A WAC GLI2 EVC2 TRIO RECQL4 AP4E1 PGAP1 HP_PRELINGUAL_SENSORINEURAL_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRELINGUAL_SENSORINEURAL_HEARING_IMPAIRMENT ATP2B2 GIPC3 MARVELD2 RIPOR2 ESPN CDH23 TIMM8A HGF IARS2 IGF1 ADCY1 HP_MACROTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROTIA FIBP MYT1L RPL10 THOC2 KMT2E TRPS1 CCDC32 FMR1 GTF2I HDAC8 WDR73 SIX3 BRWD3 KCNJ1 ITGB6 CHRNA7 KRAS GTF2IRD1 ERCC8 EIF2S3 KMT2D NDE1 FGFR1 RAB3GAP1 MAN1B1 ZNHIT3 SLC6A17 SLC9A6 NTNG1 KANSL1 TRIO STIL NDP RAB3GAP2 GPR101 GLI2 DDB1 ALG9 SLC2A10 WDFY3 MBTPS2 OTUD6B TENM3 TRMT10A GLB1 ZIC2 RHOBTB2 NAA10 ANKRD11 RAB18 ERCC6 SLC12A2 NEXMIF TBC1D20 SIN3A BMP4 AIP GRIA4 MGAT2 MGP MECP2 PSAT1 SLC16A2 TPRKB MID2 EZH2 EED CHRNA1 ACTL6B METTL27 NIPBL CIT KCNMA1 TBL2 SHANK3 ALDH18A1 TRAPPC9 MAP2K2 NALCN SSR4 CWC27 WDR4 AKT1 HECW2 HUWE1 HS2ST1 PPP1R15B SALL1 BPTF GRIA3 TTI2 ZBTB20 PUS7 PTPN23 UBR7 COLEC11 HHAT PTEN SHH COLEC10 TOE1 PCLO PIGN PAK3 ZNF699 IQSEC2 AHSG PHIP PQBP1 MED13L TBX22 DSE SOX6 RLIM TAFAZZIN KDM4B AP1S2 NCF1 ACTL6A RFC2 MAPK8IP3 FDFT1 HPDL INSR CLIC2 LAGE3 FAR1 DNAJC30 DYRK1A TAF1 OSGEP TP53RK CHST14 BCORL1 DISP1 AEBP1 PSMD12 FGF8 UBE2A BCL7B AGO2 FTSJ1 RAD21 PALS1 JARID2 TBL1XR1 SLC2A1 SNAP29 ALKBH8 PRUNE1 PAX1 SHOC2 ZMIZ1 RDH11 ITGA3 CLIP2 MMACHC AP3D1 ERCC1 PGAP1 RMRP WASF1 ABHD11 SET ZNF711 OPHN1 KDM6A ELN EYA1 DENND5A KDM5C ASNS EIF4H MAN2B1 PACS1 ALG3 LAT2 KIFBP NUP107 NBN STX1A MINPP1 POLR1A ATP6V1B2 TRIP12 JAG1 SVBP BRAF TOR1A HERC1 TANC2 MED27 MASP1 CASK PTCH1 BRD4 BUD23 CNOT3 BSCL2 CPE PSMB8 LIMK1 PPP1CB TCF20 CLDN3 PYCR2 ADAMTSL1 FLNA KDM6B MPLKIP PMM2 BAZ1B PTDSS1 SLC12A6 ATP6V1A KAT8 ODC1 DPYSL5 SUZ12 DPF2 SYNGAP1 PIEZO2 PHGDH TBCD DDX6 TBC1D23 MED13 YME1L1 PIK3R1 MAP2K1 SMC3 KIF1A NUP133 NTNG2 CEP120 TAPT1 KATNB1 SMC1A GTF2IRD2 KCNN3 PHF6 NHS METTL5 DOCK3 QRICH1 LSS ADAT3 FGFR2 KCNH1 FKBP6 NSD1 AGPAT2 CLDN4 MBTPS1 HTT VPS37D MLXIPL CBL CTU2 PRDX1 TNRC6B NECTIN1 NARS1 TRMT1 TMEM270 ERCC4 TRAPPC4 SATB1 STEEP1 FBXW11 SMG8 RBMX MADD HP_STENOSIS_OF_THE_EXTERNAL_AUDITORY_CANAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STENOSIS_OF_THE_EXTERNAL_AUDITORY_CANAL SOST CPLX1 SIX1 SIX5 CTBP1 MAFB POR HOXA2 GMNN COL7A1 SLC12A2 B3GLCT TBX15 PORCN MAF EDN1 EYA1 EDNRA COL2A1 SALL4 LETM1 FGFR2 NSD2 GNAI3 MED12 FGFRL1 CHN1 RPL26 HP_RECURRENT_OTITIS_MEDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_OTITIS_MEDIA TNFRSF13B RNU4ATAC SH3KBP1 CD19 MGP CFAP221 SLC35C1 DNAH1 ODAD2 ANAPC1 ZNF341 RSPH4A KMT2D SMARCD2 DNAAF2 MAGT1 NFKB2 DNAAF1 CD3D CD3E BCOR DNAH9 JAK3 SRCAP JAGN1 CD79A DDB1 TNRC6B UBB ARHGAP29 CD3G MCIDAS KDM6A DLK1 HEPHL1 DNAI2 FGFR3 DNAAF4 IDS BMP4 TTC12 SPAG1 MSX1 TPP2 WDR26 DNAJB13 RPL11 CFAP300 ADA KANSL1 ZEB2 CCNO ICOS USB1 DHCR7 DRC1 CCDC65 FOXJ1 PCYT1A ODAD1 RAC1 BPTF MLXIPL CCDC40 CFI ZMYND10 GRHL3 TCF3 DNAI1 IKBKB LBR BTK LRRC56 NEK10 TP63 SYK IL21R TNFRSF13C SDCCAG8 IL6ST SETD2 MAPK1 NCKAP1L RTL1 RSPH3 CD4 PSMB8 MAP3K7 DLX4 DNAL1 ATN1 FLNA ADAT3 NECTIN1 GAS2L2 SPEF2 IGHM IRF6 CCDC39 DPF2 RNF2 POLR3A GNPTAB IL2RB IL17RA DNAAF6 RAC2 PLCG2 ELN MNS1 ODAD3 CD79B RSPH9 LRBA CFAP298 DNAH11 ACP5 DNAAF3 UNC119 CCDC103 WAS GAS8 RELB ADA2 MEG3 IL6R FMR1 HYAL1 DNAAF11 CDH1 AP3B1 CR2 KIF15 RSPH1 DNAAF5 BLNK STK36 COL2A1 FCGR3A SRY DLG1 OFD1 DNAH5 FOXP1 HYDIN NAA10 NME8 A2ML1 PSMD12 SMARCA2 ODAD4 RPGR PRKCD HP_PROGRESSIVE_SENSORINEURAL_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_SENSORINEURAL_HEARING_IMPAIRMENT MYH14 MT-ND1 FGF3 GATA3 LARS2 NLRP3 GJB2 SCD5 MT-TL1 ALMS1 MT-ND6 ATP1A3 MT-ND5 MYO6 MT-CO2 OPA1 MT-TV MPZL2 MT-TF WFS1 MT-TW GSDME TPRN MT-CYB MYO3A MT-TQ MT-TK ARSG MPZ TIMM8A IARS2 POU3F4 MT-TC SYNE4 MIR96 GRXCR1 GIPC1 MT-TS2 MCM2 P2RX2 ACTG1 MT-TS1 GJB6 MT-CO3 GFER MT-CO1 HP_MIXED_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIXED_HEARING_IMPAIRMENT ANKH TENT5A FLNA SIX1 ABCC6 PAX1 FAM20C KDELR2 MBTPS2 ENPP1 B3GALT6 RPS28 GJB2 CDH11 MAN2B1 FGF10 HOXA2 MAP3K7 EYA1 GDF6 GJA1 FLNB AFF4 SEMA3E AMMECR1 PORCN FGFR3 COL11A2 POU3F4 IGBP1 FKBP14 FGFR2 ELMOD3 GJB6 ARSL SGMS2 CHD7 HP_PROTRUDING_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROTRUDING_EAR RPL10 SMPD4 TRPS1 NF1 GTF2I KIF11 DLX4 SH3PXD2B AHDC1 POMT2 CHRNA7 POU3F3 FBN1 GTF2IRD1 KNSTRN FKRP INTS1 TUBGCP6 CCDC32 TPM2 NDP MBTPS2 CAMTA1 OBSL1 OTUD6B RPS6KA3 POMK SPTBN1 DAG1 FAM20C ANKRD11 TXNL4A LARGE1 KANSL1 INSR BMP4 TP63 MBD5 DCAF17 ARX RNF113A METTL27 TBL2 BLM PQBP1 PYCR1 CHST14 GJB3 FGFR1 CLCF1 ERF TRAIP PPP1R12A FOXG1 SHANK3 SON FLNA TUBGCP4 WNT4 DOCK6 NEK1 CLCNKB ERCC3 ADNP ERCC2 MYH3 POMGNT2 TBX22 COL6A3 DSE SPOP EXT1 ZDHHC9 NCF1 HUWE1 CREBBP RFC2 TTN TAF1 COL3A1 APC COL2A1 POMT1 DNAJC30 HNRNPK CCDC8 TET3 CLCNKA FN1 BCL7B OCRL GTF2H5 PTPN11 TASP1 GTPBP2 LRP4 B4GAT1 SPEG TFAP2B RB1 BICRA DHX37 CAMK2G PRUNE1 PAX1 CLIP2 GJB4 UPF3B DYRK1A MPLKIP ABHD11 FBXL4 KDM5C ANTXR1 MEGF8 KDM6A ELN PIEZO2 EYA1 BMP1 KMT2D BSND EIF4H COL4A1 ALDH18A1 LAT2 GJA1 COL6A2 STX1A FMR1 FKTN NSUN2 CRPPA NHS TUBGCP2 TARS1 BUD23 EIF4A3 AP1S2 EDNRA NKAP NALCN PIK3CD SCARF2 LIMK1 CLDN3 PYCR2 COL6A1 LGI4 BAZ1B ATP6V1A B3GALNT2 NR2F1 MED12 TBX4 H19 PACS1 FRMD4A LIG4 GTF2E2 FIBP RYR1 TNNT3 BIN1 TNNI2 WNT7A ZNF462 MAB21L1 WDR19 GTF2IRD2 POMGNT1 SLC1A4 SKI IGF2 CLTC FKBP6 KCNK9 CLDN4 VPS37D B3GLCT MLXIPL PLK4 LMNB1 CUL7 NECTIN1 EDEM3 TMEM270 KCTD1 RXYLT1 KDSR DPP6 HP_ATRESIA_OF_THE_EXTERNAL_AUDITORY_CANAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATRESIA_OF_THE_EXTERNAL_AUDITORY_CANAL SF3B4 FRAS1 TBC1D24 EYA1 GRIP1 SIX1 HDAC8 CDC6 PAX1 ORC1 FAT4 EFTUD2 ORC4 SMC3 FKTN NOTCH3 GSC POMT1 CDT1 SMC1A FKRP TWIST2 TSHZ1 RPL26 FGFR2 GLI3 SIX5 DCHS1 DDR2 RPL11 SMCHD1 GMNN FREM2 TP63 BRD4 POMT2 ORC6 TCOF1 HOXA2 SNRPB NIPBL LARGE1 ATP6V1B2 RPS26 RAD21 CDC45 HP_BULBOUS_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BULBOUS_NOSE CCNQ SEC24C SMPD4 BICRA RERE DLX4 SATB2 SCYL2 CCDC47 SLC35C1 COMT PIGL PQBP1 USP9X INTS1 KAT6B JMJD1C SMARCAL1 AP4E1 SNIP1 ABCC9 ACTL6B MAN1B1 SPEN SLX4 SC5D KANSL1 PGAP2 SPOP UNC80 CAMTA1 C2CD3 ESS2 DGCR2 OBSL1 TWIST2 NHEJ1 TMEM231 PIGV AP4S1 WAC LMX1B SPTBN1 STAG2 KAT5 PACS1 BRAF ALG3 SMC3 GJA8 ATP6V1B2 MRAS CCDC8 TBCK FREM1 TBX1 KMT2B EXT2 TUBGCP2 MBD5 ECEL1 COL11A2 RUSC2 ASXL3 MYO18B MED12 PIGY DGCR6 DDX3X TRPS1 FBN1 CIT HIRA SHANK3 TCF20 DGCR8 PYCR1 SOX5 PYCR2 ATN1 TRRAP MTX2 TBC1D24 SLC25A46 AP4B1 SETD5 ATP6V1A CDC42 HECW2 ODC1 MESD FOXG1 KCNJ2 TBX4 SPRTN SIM1 PIGO TBC1D23 SMS ABCA5 UFD1 COL1A2 DOCK6 STXBP1 KDM5B ECE1 ALDH6A1 DOCK7 KATNB1 RNU4ATAC KCNN3 AP4M1 HK1 GP1BB MED13L EXTL3 QRICH1 GJA5 EXT1 MED12L YY1 CPT2 KDM4B AFF3 HUWE1 KIFBP ZNF292 ARVCF POR SRD5A3 PIGW KIF15 CLIC2 CDK19 TAF1 KCNJ5 KCNH1 DYRK1A CEP55 CUL7 FMR1 RREB1 EIF5A MMP2 CEP57 MPDZ EDEM3 EFEMP2 SMG8 LTBP3 SMARCD1 RBMX PGAP3 TONSL DYNC1I2 CUL4B HP_ABNORMALITY_OF_THE_CHOANAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CHOANAE SEC24C SHH RERE HDAC8 FOXE1 SIX3 POLR1D ERF COMT FGFR2 POR SEMA3E USP9X JMJD1C FGFR1 DCHS1 BRCA2 FANCE CDH1 CDC45 OFD1 EFTUD2 STIL GLI2 MBTPS2 WBP11 FGFR3 NIPBL FANCI ADGRG1 ITCH ZIC2 DHODH GLI3 ZNF335 FAM20C TXNL4A SRPX2 POLR1B TCOF1 SLX4 POLR1A RPL11 SMCHD1 TP63 ASXL3 FANCA FANCL BRD4 TGIF1 SMC1A MAPK1 SETBP1 NFIX HIRA RFWD3 RECQL4 ARID1B SCARF2 FGF8 ERCC4 RPS26 IRF6 CHD7 FGF10 FRAS1 TBX1 EPCAM PTDSS1 XRCC2 FANCB CDON TWIST1 IGBP1 SLC12A2 NBN UFD1 PI4KA ZMPSTE24 SMC3 FOXH1 DISP1 PTCH1 DHCR7 MED12 PTH1R WNT3 GP1BB GLIS3 PTPN14 SOST FANCF SPINT2 POLR1C WAC FANCC ARVCF NODAL TDGF1 MSL3 LMNA UBE2T FANCG CRKL CEP55 RAD51 DLL1 BCR RREB1 SALL4 BRCA1 TCTN3 ANTXR1 BRIP1 FANCD2 GAS1 FANCM PALB2 SUFU RAD21 FAT4 MAD2L2 RAD51C HP_NARROW_NASAL_RIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_NASAL_RIDGE ADAT3 ZMPSTE24 CEP55 COL3A1 FBN1 WDR73 NRAS LMNA POLR3A ALDH18A1 PYCR1 SMARCA2 HRAS MTX2 HP_ABNORMALITY_OF_THE_NASAL_SEPTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASAL_SEPTUM NECTIN1 PTCH1 NOG STING1 TGIF1 ARSL EP300 NONO UBA1 NF1 IRF6 FLNB ATP6V1B2 MSX1 TFAP2A SIX3 PAH TP63 CREBBP RPS6KA3 HP_EPISTAXIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISTAXIS ITGA2B PRTN3 GP1BB MYD88 ENG RASGRP2 HLA-DPA1 F7 FYB1 CLCN2 GGCX F5 NBEAL2 PTPN22 WAS TET2 FGB GP1BA GBA F13A1 VWF GFI1B FIP1L1 LMX1B EPOR PRKACG F11 RUNX1 ACVRL1 HPS1 ITGB3 F8 P4HA2 ZBTB16 FGG P2RY12 SMAD4 NABP1 F2 LMAN1 LYST MCFD2 BLOC1S3 FERMT3 SBDS RARA PRF1 HPS4 PLAU JAK2 HLA-B BCOR NPM1 SLFN14 GATA1 ATP8B1 FGA MPL SRC CYP11B1 WIPF1 HLA-DRB1 GP6 IFNG STXBP1 TBL1XR1 CYP11B2 HPS5 SLC37A4 STAT5B RASA1 F10 GP9 PRKAR1A CACNA1D HLA-DPB1 MYH9 GDF2 DTNBP1 TERC TBXA2R TERT ETV6 F13B KCNJ5 EPHB4 ACTN1 BLOC1S5 CTLA4 NUMA1 FCGR2C HPS6 STAT3 PML IRF2BP2 SERPINE1 STIM1 HP_ABNORMAL_NASAL_BRIDGE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NASAL_BRIDGE_MORPHOLOGY ERCC2 RNU4ATAC CCDC32 KIAA0586 PIGA MGP DIS3L2 TENT5A FAT4 SH3PXD2B PCARE SUFU HERC2 PUS7 GATAD2B TRPV4 KMT2D BBS1 NDE1 DPM1 BMPER TUBGCP6 PEX13 METTL23 RAB23 KANSL1 KISS1 GNAS TPM2 NDP TCTN3 OFD1 WDFY3 GLI2 STRADA DHCR24 CEP41 RHOBTB2 SMOC1 KAT5 BRAF NAA10 GATA1 CENPF SPEN PEX3 STX16 KREMEN1 AGA ZEB2 NEXMIF CDK13 SIN3A PEX12 ZSWIM6 FLNB AKT1 RSRC1 TSHB COG4 COG8 SC5D POU1F1 INPP5E KCNA1 CSGALNACT1 NXN EDARADD SLC6A1 KCNMA1 RPS27 ATP6V1B2 KIAA1549 IDH3A DYNC2H1 SAG MAP2K2 MIR140 TMEM70 TCTN1 RAC3 GRIP1 HUWE1 PIGN COL11A1 BBS9 ZIC2 KCNJ2 CTBP1 NOTCH3 CDON PRKCZ ACTB CDKL5 TACR3 IMPG2 TOPORS PEX6 OTUD6B GUCA1B SYP NDN NALCN DLG3 RSPRY1 FGFR2 KIAA0753 SCAPER GPC4 PAK3 ZNF699 IFT88 CEP290 ROR2 MEG3 GPC3 ATPAF2 TRIP11 DOCK7 ARSB PEX7 MAPK8IP3 MTOR PQBP1 GLIS3 SIK1 PROK2 EXT1 RPS29 HYAL1 MED13 RPS10 PTCH1 ZDHHC9 NCF1 FGF17 TMEM237 CREBBP FOXL2 FDFT1 INSR SPATA7 ATRX CLIC2 PUM1 RARS2 BRCA1 PITX1 MYOD1 HNRNPK PIK3C2A DPH1 PEX19 AMMECR1 CLP1 SNRPN COG5 GBA GNS CD96 UBE2A FLNA BCL7B PTEN CNOT1 RPS24 SCN1A FTSJ1 ARID1A CHN1 ACSL4 ZNF711 ADNP ROM1 CNKSR2 CACNA1C JARID2 MID2 DMXL2 BICRA ARID2 SNAP29 PPP1R21 IYD B3GAT3 SCYL2 AHI1 COMT PIGB RAB3GAP2 PDE4D ARL3 MAPRE2 ZMIZ1 ALG2 DVL1 DCHS1 CEP152 COG1 RECQL4 POR PGAP1 KDM5C PTCH2 WDR35 CDK10 PGAP2 KIAA1109 ANTXR1 USH2A ELN ADAMTS2 ARID1B EYA1 TBCE RPS6KA3 PDE6G ACAN EIF4H SPRY4 RAB18 GLUL HRAS KIFBP ZNF335 TULP1 USP27X PACS2 NONO JAG1 SVBP SMARCA2 CDH11 TOR1A LIG4 TMEM94 TANC2 NHS FGFR3 MED27 CNGA1 BPTF POLR1B FSCN2 IDUA FGFR1 BRD4 BUD23 DHX38 RUNX2 KAT6A RAI1 FBN1 HIRA SNORD116-1 DLK1 SLC39A13 MED12 CLDN3 NPR2 PMM2 TBX1 CC2D2A SLC12A6 SETD5 ATP6V1A FAR1 STAT3 IGF1R HIVEP2 TBX4 SIM1 HSPG2 KIZ RLBP1 TCF4 SDCCAG8 SMG9 KAT6B MAP2K1 AMER1 DDR2 SMC1A PWRN1 KDM5B AUTS2 ADAMTS10 DPYSL5 PIGO ETFB RALA CASK TP63 USP9X STAG1 CFAP418 DUSP6 MKRN3 DOCK3 DCAF17 PWAR1 EXTL3 ADAT3 RAPSN CLCN4 CANT1 AHDC1 POLR1C TUB CCND2 COL1A2 KCNH1 PEX10 TOE1 EDN3 TPO VPS13B RTL1 RBP3 PAX3 CEP57 TWIST2 EDEM3 TMEM270 TRIM32 GHR PGAP3 SATB1 MN1 CEP19 SMARCB1 G6PC3 PDPN LTBP3 KYNU RAF1 NMNAT1 ZBTB18 RPS28 SMPD4 KIF11 STRA6 PIGL CA4 ARL2BP RIPPLY2 ARMC9 RPL18 DEAF1 HS6ST1 DNMT3B BMPR1B PHF21A SLC25A24 ESCO2 PIK3CA HELLS KMT2A BBS12 BCOR PEX26 ZNF41 TRIP12 PIGQ RTTN TRIO NPHP1 PROKR2 PEX14 KDM1A IDS MESP2 ZNF81 GLI3 HOXB1 EYS NSDHL SMC3 TCOF1 FGD1 RARB TMEM216 LHX4 ALX1 CHST3 NELFA CHD2 TBCK IFT80 LRPPRC RAC1 MID1 PRKAR1A PRCD SNAI2 LINS1 BBS5 EEF1A2 B4GALT7 BBS7 CEP104 TGIF1 RPGR SMO EED EZH2 METTL27 CEP120 MAPK1 PEPD SEC23A MADD TRAPPC9 MAP3K7 CKAP2L SLC6A9 RELN SHOX PAX1 HECW2 ACY1 FOXG1 HS2ST1 CDCA7 RAD21 SPRTN UBE3B PEX5 SON TUBGCP4 ANKH UMPS P4HTM DUOX2 DOCK6 ERCC6 NEK1 NFIX HESX1 PDE6D SPECC1L RPS7 TFAP2A CDC42 RP9 EDA LUZP1 SRD5A3 RLIM KDM4B RPS26 GNE DPYD ACTL6A TRPS1 RFC2 AP3B1 WNT5A TRIM37 PIGW ANK1 KCNJ5 TTC37 B3GLCT CCNK CRKL DICER1 ALG9 IFT172 SOX10 PSMD12 WAC ORC6 INPPL1 SLC25A22 PIGG TGFB3 SOST GDF5 PIK3R2 PEX1 SMAD4 SLC35C1 SLC18A3 ARHGEF6 HCCS CLIP2 SMARCAL1 EBP SCN2A RMRP KCNE5 ABHD11 POGZ LRAT SCUBE3 ZBTB24 ARSL DOK7 MEGF8 MYH3 PIGT LETM1 ACOX1 NEUROD2 SMARCE1 KLHL7 VARS1 CAMKMT CCBE1 KDM6A WDR26 PEX2 STX1A LARP7 PRPF8 HGSNAT MRAS WDPCP NEPRO EP300 IFT140 UQCC2 RPS19 SLC35A2 LMNA HES7 CPLANE1 SMARCA4 SLC2A1 EXOC2 BPNT2 KATNIP ASXL1 SALL4 BEST1 IQSEC2 PIGY TMEM107 SKIV2L RPL11 XYLT1 TMEM67 MUSK RPGRIP1L ABCC9 STEEP1 GNPTAB BMP2 DDX6 UFD1 SNRNP200 VPS33A IL1RAPL1 MAF NEK2 TNNT3 AHR KCNN3 GALNT2 IFT57 SHH DYNC2I1 RALGAPA1 CSPP1 NAGA SP7 TAPT1 GTF2IRD2 TBX6 GP1BB RP1L1 TTC8 DYRK1A CTSD TMEM231 VPS37D BRF1 PRKDC TWIST1 PCNT RAB3GAP1 GPC6 HBB EFEMP2 KCTD1 AP4S1 PDGFRB SF3B4 PTH1R POLR1A WNT7A CUL4B GNRH1 EXT2 PROM1 LMNB1 KMT2E EXOSC1 HMGA2 GTF2I HDAC8 B3GALT6 BUB1B SATB2 IARS2 LFNG KCNJ8 ADA2 KRAS ALX3 ARL6 INTS1 GJA1 SLC45A1 AP4E1 FREM1 MAN1B1 MEF2C SPOP DDB1 MMP23B COL1A1 CRIPT SLC9A7 IDH3B SOX9 SPTBN1 FAM20C TXNL4A MAN2B1 FZD2 FRMPD4 AGL ATIC PTCHD1 WDR37 FREM2 EFNB1 ARX GRIA4 MGAT2 ARL13B WDR11 PRKD1 POLE NUP188 SOX18 DDX3X AIFM1 GNPAT ERCC1 ACTL6B PIGP TBL2 SHANK3 ZNF423 CBY1 RGR ERF NF1 PRPF31 EDAR CRX OBSL1 MIA3 IGBP1 RERE PRPH2 PEX16 PTPN23 SMS TUBB RPS20 UBR7 PORCN MAFB LHX3 FOXH1 MKS1 WDR4 UNC80 DVL3 FGFRL1 COL2A1 SOX6 FANCL CPLX1 MED12L LBR COL18A1 REEP6 HPDL RPL26 CNGB1 NODAL SMARCC2 COL11A2 PUF60 ARHGEF18 TAF1 COL3A1 PDHA1 DNAJC30 SEMA4A BCORL1 SUMF1 FH CDH2 SRCAP RIPK4 HDAC4 BCR MMP2 SLC26A2 CHD7 BBIP1 DMD AGO2 TASP1 SEPTIN9 IFT52 SHROOM4 TALDO1 CCNQ SEC24C PURA LZTFL1 RPL27 POLR1D TRIM8 RPS23 TMEM138 GMNN SLC5A5 PSAT1 SOX11 JMJD1C TLK2 KIF7 WASF1 RAB39B TCTN2 SET GDI1 AKT3 EIF2AK3 NOTCH2 NIPBL ALG13 RYR1 CUL7 UPF3B STAG2 PNKP MECP2 CRB1 MAK SOS1 PBX1 NSUN2 RNF13 HERC1 RPL15 DHCR7 UBE4B CCDC22 EDNRA CNOT3 SETBP1 PLOD1 PIBF1 PIK3CD SCARF2 TCF20 TFAP2B NSMF SOX5 PTPN11 ADAMTSL1 ETFDH TBC1D24 PIK3R1 MDH1 KAT8 GPX4 LRP2 PIGU B9D1 RPL10 GPRASP2 RPE65 XRCC4 RPL31 RBM10 MTHFR KCNJ6 ALX4 TONSL LEMD3 PRPF6 MED13L RDH12 PRPF4 TBC1D20 ZNF292 ARVCF KCNK9 PAM16 TDGF1 TAF6 NFASC KNSTRN AFF2 RP2 COX7B CBL TRMT1 DLL1 NECTIN1 FAM161A NSMCE3 RREB1 CSNK2A1 WASHC5 BBS4 TRAPPC4 BBS2 RPS17 POMGNT1 TAC3 FBXW11 STXBP1 CILK1 NSD2 GAD1 MYT1L RPS15A LONP1 GTF2IRD1 MYCN SIX3 NTNG1 FLII GATA4 PDE6A NUP88 SLC3A1 RPL35 HYLS1 PIGV RPL35A IFT27 GLB1 FBXL3 PRPF3 SCN1B SLC12A2 DHDDS ATAD3A NDUFB11 CDKN1C AGTR2 SNX14 TSR2 ACTG1 PITX2 IMPDH1 ADAMTSL2 DYNC2I2 VANGL2 FBXO31 WARS2 DPF2 ETFA PARS2 BRPF1 NR2E3 SEMA3E PIEZO2 MDM2 PDE6B FGF8 KIF14 IFT74 RHO PEX11B IRX5 GNAO1 TBX2 PROP1 DLL3 MYMK RPL5 PLCB3 PKDCC NFIB MAGEL2 PCLO RHOA ECE1 ALDH6A1 TOGARAM1 MARS2 ADAMTS3 CTNND2 INTU IFT122 ZNF408 SYNGAP1 ACTG2 HBA2 RP1 FAM149B1 PAH CERKL AGBL5 SMARCD1 MKKS SEMA5A GTPBP2 GAS1 MITF OPHN1 SLC7A14 PALS1 ABCA4 RB1 SOX4 AP2M1 COLEC11 ATP6V0A2 FGF3 FOXC1 NRAS SH2B1 DHPS GNRHR DYNC2LI1 PRMT7 FUT8 SIX2 ALG3 LAT2 NBN KCNAB2 MINPP1 ASXL3 TG PREPL NRL TNNI2 KISS1R MLXIPL MRPS14 TSPAN7 CDHR1 KPTN ZNF513 ANKRD11 LIMK1 SKI FRAS1 TRRAP KDM6B MTX2 BAZ1B AP4B1 HSD17B4 CHD3 NR2F1 RNF2 UGP2 ADGRG6 MERTK PPM1B CLRN1 EBF3 CASZ1 HYOU1 PRDM16 DUOXA2 NTNG2 KIT HBA1 LTBP4 YARS1 NEU1 FLI1 ALG12 COL27A1 MEIS2 SLC1A4 BMPR1A EDNRB ERCC5 FKBP6 CRLF1 CLDN4 NPAP1 HTT PLK4 SPATA5 HCFC1 COX4I1 CTU2 TNRC6B DISP1 GABRD IFT81 SNORD115-1 BBS10 HP_PROMINENT_NASAL_BRIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_NASAL_BRIDGE EXT2 LMNB1 ZMIZ1 HMGA2 SATB2 PIGL EBP ARMC9 BBS1 ARL6 NDE1 AHI1 PHF21A TMEM237 SPEN KANSL1 GATA4 SPOP BBS12 BCOR TCTN3 HYLS1 OTUD6B PIGV RTTN IFT27 MKS1 NPHP1 CEP41 CENPF NSDHL TXNL4A SMC3 TMEM216 RPGRIP1L TBCK NEXMIF ATIC RAC1 SIN3A STAG1 WDR37 MGAT2 ARL13B PRKD1 BBS5 PAX3 SOX10 PIGY BBS7 CEP104 SOX18 INPP5E CEP120 RECQL4 SEC23A FGFR2 IFT74 ZNF423 CBY1 ARL3 TCTN1 MIA3 BBS9 SPRTN IGBP1 SMS HSPG2 PCNT SCAPER GPC4 PAK3 PDE6D ZNF699 CEP290 SPECC1L UNC80 ATPAF2 ECE1 DOCK7 MAPK8IP3 FGFR3 RELN KAT6B NONO MED12L MED13 HDAC8 KAT8 ZDHHC9 INSR PIGW CLIC2 ACTG2 RARS2 FAM149B1 BRCA1 TMEM67 CRKL IFT172 BCR BBIP1 ORC6 MKKS ARX PGAP3 TGFB3 AFF2 SEC24C RB1 LZTFL1 BICRA SNAP29 KIAA0586 SMAD4 COMT TMEM138 COLEC11 JMJD1C CEP152 UPF3B TLK2 DYRK1A KDM5C SH2B1 TCTN2 SCUBE3 PGAP2 DHPS CKAP2L ZNF335 VPS13B NBN MITF WDPCP RLIM ASXL3 HERC1 NHS CPLANE1 MED12 KATNIP KAT6A MAPK1 HIRA PIBF1 ANKRD11 NSUN2 TRRAP SF3B4 PMM2 TBX1 CC2D2A KIF7 TCF4 HIVEP2 NR2F1 B9D1 PIGO OFD1 NALCN UFD1 EBF3 SDCCAG8 XRCC4 SMC1A KDM5B MECP2 GALNT2 IFT57 CASK RAB3GAP2 TP63 GP1BB ALG12 CFAP418 MEIS2 LEMD3 DCAF17 EDNRB SUFU TTC8 ERCC1 CSPP1 FBN1 TBC1D20 KIFBP ARVCF ERCC6 TMEM231 TAF6 EDN3 NFASC KIAA0753 COX4I1 TWIST1 RREB1 BBS4 BBS2 TRIM32 CEP19 PDGFRB ALX4 POLR1A BBS10 HP_ABNORMALITY_OF_THE_NASAL_ALAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASAL_ALAE RNU4ATAC PIGA MGP DIS3L2 PCARE GATAD2B EIF2S3 VPS51 ALG13 TUBGCP6 HNRNPK PEX13 APC TCTN3 PLEC RERE OFD1 OBSL1 GLI2 ARSL ABCC8 RPS6KA3 DHCR24 CEP41 ADAMTS3 SMOC1 IER3IP1 BRAF NAA10 ANKRD11 AIMP2 AGA NEXMIF SIN3A SC5D ASXL2 INPP5E KCNA1 CSGALNACT1 NXN SLC6A1 ATP6V1B2 KIAA1549 IDH3A SAG MAP2K2 MIR140 TMEM70 SLC25A46 TCTN1 RAC3 AKT1 GRIP1 PIGN FIG4 COL11A1 ZIC2 CDON ACTB CDKL5 IMPG2 TOPORS PEX6 GUCA1B SYP SHH NALCN TMEM67 DLG3 KIAA0753 PAK3 VAC14 ZNF699 IFT88 CTCF ROR2 ZSWIM6 MEG3 GPC3 PHIP DOCK7 MAPK8IP3 SIK1 EXT1 TMEM237 CREBBP CERT1 ERCC4 INSR SPATA7 ATRX KIF15 TRIP11 BRCA1 FAM149B1 AMMECR1 CLP1 SETBP1 FBN1 GBA GNS CD96 UBE2A NF1 TRPS1 SCN1A ARID1A CHN1 ACSL4 ZNF711 ADNP ROM1 CNKSR2 MID2 DMXL2 BICRA ARID2 PPP1R21 AHI1 RAB3GAP2 ARL3 DVL1 COG1 CDK10 GDF11 KIAA1109 USH2A ARID1B EYA1 PDE6G RAB18 GLUL HRAS TULP1 USP27X SMARCA2 CDH11 TOR1A TMEM94 AFF4 PPP2R1A FGFR1 COL11A2 CNGA1 FSCN2 IDUA ECEL1 BRD4 DHX38 KAT6A DLK1 MED12 PPP1CB HNRNPH2 PMM2 CC2D2A SETD5 LMBR1 MED27 SIM1 KIZ SLC26A2 RLBP1 EHMT1 SMG9 PDE4D MAP2K1 CAMTA1 TCF4 SMC1A AUTS2 PIGO DISP1 RALA CASK MAB21L1 IGF1R USP9X EXTL3 QRICH1 ATP6V1E1 SUFU CLCN4 CANT1 CFAP418 TUB KCNH1 CENPJ EDN3 KLHL15 RTL1 RBP3 PAX3 EIF5A TWIST2 EDEM3 PGAP3 NFIA MN1 SMARCB1 LTBP3 UBR1 GPC4 KIF11 BMP2 CA4 ARL2BP RIPPLY2 POR ARMC9 DEAF1 PEX1 DNMT3B PHF21A ABCC9 ESCO2 ESS2 ZNF41 OCLN PIGQ NFIX TRIO ADSL KDM1A PPP2CA MESP2 ZNF81 GLI3 HOXB1 EYS SMC3 FGD1 RARB TMEM216 ATP6V0A2 ALX1 CHD2 TBCK LRPPRC RAC1 MID1 HPDL ADAMTS18 PRKAR1A PRCD IFT43 RNF135 FTSJ1 CEP104 TGIF1 RPGR FTO CEP120 MAPK1 SIX3 MADD MAP3K7 CKAP2L SLC6A9 PEX14 HECW2 PEX26 ZC4H2 CWC27 UBE3B ZBTB20 SEC23A PTEN TUBGCP4 NACC1 PDE6D XPA SH3PXD2B TFAP2A CDC42 RP9 EDA WDR19 GJA1 KDM4B KCNJ6 DPYD WNT5A XPC SCAPER TAF1 B3GLCT DDB2 CCNK CRKL FOXP1 SOX10 IFT122 NOTCH2 CPLANE1 RBM8A INPPL1 SLC25A22 DHX37 NGLY1 PAX1 SHOC2 ARHGEF6 SCN2A RMRP KCNE5 POGZ EFTUD2 LRAT ZBTB24 MEGF8 MYH3 DGCR2 KDM6A IFT172 NEUROD2 SMARCE1 WAC WDR26 PEX2 PRPF8 DDR2 HGSNAT CCDC8 PAFAH1B1 IFT140 PEX5 HES7 SMARCA4 SLC2A1 LAS1L MYO18B KATNIP RIPK4 ANKRD17 SALL4 BEST1 FAM20C IQSEC2 PYCR2 PIGY XYLT1 RPGRIP1L FGF3 STEEP1 GNPTAB CLCF1 ALG9 FRMD4A SNRNP200 IL1RAPL1 NEK2 AHR ERCC3 KCNN3 KIF1A PTCH1 RALGAPA1 FGF8 SOX4 TAPT1 TBX6 METTL5 RP1L1 SKI FGFR2 DYRK1A RNF125 TMEM231 BRF1 PCNT FGFR3 PLOD3 NPHP1 PPP2R3C KCTD1 SNX14 WDR35 PTH1R NOG EXT2 PROM1 EXOSC1 HDAC8 B3GALT6 BUB1B LFNG KCNJ8 KRAS ALX3 RAB3GAP1 MEF2C EXOSC2 PEX10 DDB1 BPTF MCTP2 PEX3 CRIPT SLC9A7 IDH3B SPTBN1 TXNL4A FRMPD4 AGL ATIC PTCHD1 FREM2 SUMF1 ARX ARL13B PPM1D DDX3X AIFM1 GNPAT PIGP ZNF423 CBY1 KCNJ11 RGR ERF PRPF31 CRX PRPH2 SMS SMARCC2 WDR4 FOXH1 UNC80 DVL3 COL2A1 MED12L REEP6 HUWE1 ASXL1 CNGB1 NODAL ARHGEF18 PDHA1 SEMA4A FH SRCAP CEP55 HDAC4 BCR ATP6V1A ANTXR1 DMD HIC1 SETD1A DYNC1I2 RAD21 BRCC3 PURA KIAA0586 TRIM8 TMEM138 GMNN FLNB SOX11 PRPS1 TLK2 ERCC5 ARL6 RAB39B TCTN2 GPAA1 PEX16 GDI1 NOVA2 NIPBL CUL7 PNKP MECP2 CRB1 MAK PBX1 IFT52 DHCR7 PORCN STIL CEP290 TBL1XR1 CTNNB1 KANSL1 PIBF1 KLHL7 PIK3CD SCARF2 PIEZO2 TBC1D24 KIF7 LRP2 MYMK B9D1 PHF8 MKS1 TTC8 ELN RPE65 XRCC4 POU1F1 ORC4 UPF3B PUF60 RBM10 ZNF462 KATNB1 SLC29A3 ALX4 TONSL PRPF6 CSPP1 RDH12 PRPF4 TBC1D20 ZNF292 KCNK9 PAM16 TDGF1 TAF6 RP2 DLL1 FAM161A FZD2 CSNK2A1 POMGNT1 STXBP1 SATB2 HS2ST1 GAD1 LONP1 CNOT3 MAFB CCNQ KNSTRN RAI1 MYCN SPEN ZNHIT3 MVK FLII PDE6A HYLS1 PTPRF TRMT10A PIGV GLB1 BCOR PRPF3 SCN1B DHDDS KPTN TBX1 ATAD3A AGTR2 PGAP2 IMPDH1 DPF2 DOCK3 CNOT2 TP63 PARS2 NR2E3 RECQL4 DGCR8 PDE6B KIF14 RHO PEX11B IRX5 GNAO1 TBX2 DLL3 TWIST1 ABCA5 BBS2 PLCB3 PIGF NFIB YWHAE PPP1R15B RHOA TOGARAM1 MARS2 HK1 SPOP ZNF408 SYNGAP1 ERCC2 ACTG2 RP1 MSL3 PAH CERKL AGBL5 SMARCD1 PRMT7 MED25 GAS1 MITF SLC7A14 ABCA4 TFAP2B ADAMTSL2 PEX12 AP2M1 RDH11 TTC37 GPC6 SLC17A5 SIX2 CRLF1 PEX19 ASXL3 NRL SMARCAL1 MLXIPL DGCR6 TSPAN7 CDHR1 ZNF513 NSUN2 FRAS1 TRRAP MTX2 MPLKIP NR2F1 COG6 RNF2 POLR3A ADGRG6 PIGT MERTK CLRN1 EBF3 KDM3B PIK3C2A SNRPN PIK3R1 NRAS FLI1 EDNRB VPS35L PLK4 SPATA5 HCFC1 RIC1 HP_UNDERDEVELOPED_NASAL_ALAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNDERDEVELOPED_NASAL_ALAE EXT2 RNU4ATAC BICRA MGP GMNN FLNB RDH11 FGF3 SOX11 PRPS1 PURA PHF21A HNRNPK ESCO2 MVK OFD1 DDB1 PLEC UBR1 ALG9 CKAP2L MYH3 ESS2 DGCR2 NFIX TRIO NAA10 ANKRD11 TXNL4A GJA1 DDR2 MITF ALX1 KANSL1 ASXL3 TBX1 NEXMIF SIN3A FREM2 MYO18B SOX10 DGCR6 RIPK4 TP63 MAPK1 CTNNB1 TWIST2 ATP6V1B2 RECQL4 SCARF2 DGCR8 MADD HNRNPH2 NSUN2 FRAS1 MTX2 CWC27 GRIP1 LMBR1 HDAC4 TWIST1 NALCN NOG PIK3R1 ORC4 PPP1CB KCNJ6 ALX4 EDA SMARCA2 EDNRB DYRK1A CREBBP CLP1 TAF6 CENPJ EDN3 SPATA5 CRKL PCNT BCR PAX3 EIF5A PPP2R3C EDEM3 UBE2A TRPS1 HP_WIDE_NASAL_BRIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDE_NASAL_BRIDGE ERCC2 PROM1 LMNB1 KMT2E CCDC32 PEX6 GTF2I DIS3L2 TENT5A KCNJ8 SH3PXD2B ADA2 PCARE SUFU ALX3 PUS7 GATAD2B KMT2D PEX1 INTS1 GJA1 RAB3GAP1 RTL1 AP4E1 TUBGCP6 FREM1 MAN1B1 TPM2 PEX10 MMP23B RAF1 OFD1 WDFY3 PEX3 OTUD6B STRADA IDH3B SPTBN1 CASK NAA10 GATA1 CENPF SPEN KREMEN1 ZEB2 CDK13 SIN3A PEX12 KIAA0753 FREM2 EFNB1 RSRC1 GRIA4 SC5D SOX10 NUP188 SOX18 DDX3X GNPAT ERCC1 NXN ACTL6B SLC6A1 KCNMA1 TBL2 GPC4 SHANK3 RPS27 ATP6V1B2 KIAA1549 IDH3A SAG RGR TMEM70 PRPF31 RAC3 GRIP1 HUWE1 PIGN CRX KCNJ2 CTBP1 COG1 BPTF RERE PRKCZ ACTB PRPH2 PEX16 IMPG2 PTPN23 BRAF TOPORS RPS20 UBR7 GUCA1B FAT4 MAFB NALCN DVL1 IFT88 MKS1 ROR2 MEG3 GPC3 UNC80 DVL3 MYH3 PQBP1 FGFRL1 TWIST2 EXT1 SOX6 RPS29 FANCL CPLX1 MED13 RPS10 PTCH1 NCF1 REEP6 PEX5 FOXL2 CLP1 HPDL ASXL1 SPATA7 RPL26 CNGB1 PUF60 ARHGEF18 PUM1 PDHA1 DNAJC30 HNRNPK SEMA4A PIK3C2A BCORL1 PEX19 KDM4B NEXMIF PSMD12 COG5 BCL7B AGO2 TASP1 RPS24 SCN1A IFT52 CHN1 ADNP ROM1 JARID2 CCNQ SEC24C SPECC1L PPP1R21 RPL27 POLR1D COMT PIGB FLNB ARL3 ZMIZ1 ALG2 ATRX JMJD1C DCHS1 PURA KIF7 WASF1 ARL6 PTCH2 CDK10 PGAP2 SET USH2A ELN PDE6G NOTCH2 RYR1 EIF4H FLNA RAB18 STAG2 GLUL KIFBP CRB1 SNAP29 TULP1 MAK PBX1 PACS2 ABCC9 SVBP CDH11 TOR1A LIG4 TMEM94 TANC2 RPL15 DHCR7 MED27 UBE4B TP63 CNGA1 POLR1B FSCN2 IDUA BUD23 DHX38 CCDC22 EDNRA TXNL4A CNOT3 FRMPD4 RAI1 FBN1 KANSL1 HIRA KLHL7 PIK3CD TCF20 CLDN3 SOX5 PTPN11 ADAMTSL1 ALX1 TBX1 TBC1D24 PIK3R1 SLC12A6 SETD5 ATP6V1A KAT8 STAT3 IGF1R HIVEP2 RPL10 GPRASP2 HSPG2 KIZ TTC8 CREBBP RLBP1 RPE65 TCF4 SMG9 TBCK KMT2A PDE4D RPL31 AMER1 RAPSN PEX2 AUTS2 MECP2 B4GALT7 DPYSL5 PIGO RBM10 RALA KDM1A USP9X DOCK3 PRPF6 RDH12 POLR1C CFAP418 TUB PRPF4 PEX14 KCNH1 XRCC4 ARVCF LETM1 TOE1 AGA EDN3 NFASC KNSTRN FGD1 RP2 COX7B RBP3 TRMT1 NECTIN1 PAX3 FAM161A RREB1 FZD2 EP300 CSNK2A1 WASHC5 EDEM3 TMEM270 TRAPPC4 PGAP3 RPS17 POMGNT1 SATB1 FBXW11 G6PC3 PDPN LTBP3 CILK1 HS2ST1 MADD NSD2 GAD1 MYT1L RPS28 TFAP2A RPS15A STRA6 PIGL CA4 GTF2IRD1 ARL2BP KIF11 RPL18 MYCN DEAF1 ESCO2 GLI3 NTNG1 FLII GATA4 RAB3GAP2 PDE6A RPL35 PEX26 PIGV RPL35A RTTN IDS FBXL3 ACOX1 EYS TCOF1 RARB PRPF3 NELFA CHD2 SLC12A2 LRPPRC DHDDS ATAD3A NDUFB11 WNT5A TBC1D20 MID1 SNX14 TSR2 ACTG1 PITX2 PRKAR1A PRCD IMPDH1 SNAI2 FBXO31 WARS2 PIGY RPGR EED PARS2 METTL27 BRPF1 MAPK1 NR2E3 PIEZO2 PDE6B KIF14 TRAPPC9 MAP3K7 CKAP2L RHO RELN SHOX PEX11B PAX1 CDC42 IRX5 ACY1 RAD21 TWIST1 SEC23A MAF SON BBS2 AHI1 RPL5 TUBGCP4 ANKH UMPS PKDCC ERCC6 NEK1 RHOA TOGARAM1 MARS2 RPS7 ADAMTS3 CTNND2 MED13L RP9 LUZP1 SMARCA2 RLIM RPS26 IFT122 GNE ACTL6A TRPS1 RFC2 ZNF408 AP3B1 MAPK8IP3 SYNGAP1 TRIM37 MED12 PDGFRB PIGW KCNJ5 HBA2 SCAPER RP1 TTC37 PAH CERKL CCNK ARID1B AGBL5 ARX SEMA5A PIGG MITF OPHN1 PEX13 SLC7A14 PALS1 ABCA4 SOST RB1 AP2M1 SLC35C1 COLEC11 ATP6V0A2 FGF3 HCCS CLIP2 FOXC1 RMRP ABHD11 NRAS LRAT WDR35 MEGF8 PIGT KRAS IFT172 WAC PRMT7 FUT8 CCBE1 ALG3 LAT2 KDM6A STX1A KCNAB2 LARP7 PRPF8 MINPP1 TRIP12 HGSNAT ASXL3 NRL IFT140 RPS19 SLC35A2 LMNA TNNI2 SLC2A1 FGFR1 EXOC2 BPNT2 CDHR1 KPTN SALL4 BEST1 ZNF513 LIMK1 IQSEC2 SKI NSUN2 FRAS1 TRRAP KDM6B BAZ1B SKIV2L AP4B1 RPL11 CHD3 BMP2 DDX6 MERTK UFD1 ALX4 CLRN1 SNRNP200 VPS33A NEK2 CASZ1 TNNT3 AHR HYOU1 PRDM16 KCNN3 NTNG2 KIT HBA1 IFT57 COL11A1 LTBP4 ZSWIM6 YARS1 TAPT1 NEU1 FLI1 GTF2IRD2 TBX6 GP1BB COL27A1 SLC1A4 RP1L1 EDNRB ERCC5 CD96 FKBP6 CTSD SRD5A3 CLDN4 HTT VPS37D BRF1 PRKDC MLXIPL PLK4 PCNT TNRC6B GPC6 AP4S1 GABRD DLK1 POLR1A WNT7A HP_ABNORMAL_NASAL_MUCOSA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NASAL_MUCOSA_MORPHOLOGY SPEF2 ENG DNAI2 CCDC39 CFAP221 DNAH1 ODAD2 RSPH4A DNAAF6 DNAAF2 TAP1 ODAD3 TAPBP DNAH9 RSPH9 TAP2 MCIDAS PTGER2 DNAH11 DNAAF3 FCGR2A UNC119 CCDC40 CCDC103 CFTR DNAAF4 ECM1 ODAD4 STK11 HLA-DRB1 TTC12 DNAAF11 ACVRL1 DNAAF1 GAS8 DNAJB13 CFAP300 TGFB1 BTNL2 RSPH1 DNAAF5 CCNO DRC1 CCDC65 FOXJ1 OFD1 SPAG1 TBX21 HYDIN ZMYND10 DNAI1 NME8 NEK10 ODAD1 DNAH5 RPGR RSPH3 CFAP298 LRRC56 DNAL1 STK36 GAS2L2 HP_ABNORMALITY_OF_THE_NASAL_TIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASAL_TIP EXT2 SIX3 SATB2 CCDC47 ALX3 GATAD2B EIF2S3 KMT2D INTS1 FGFR1 AP4E1 MAN1B1 APC KANSL1 EXOSC2 SPOP TCTN3 BPTF MCTP2 OBSL1 AP4S1 ARSL SLC9A7 ZIC2 SPTBN1 KAT5 BRAF FRMPD4 PRKAR1A ZEB2 AGL PTCHD1 ARX COL11A2 DDX3X AIFM1 ASXL2 CSGALNACT1 SHANK3 ATP6V1B2 PYCR1 SYT1 SLC25A46 KCNJ2 SMS SYP SHH DLG3 COL1A2 MADD STXBP1 CTCF ZSWIM6 DOCK7 AP4M1 PQBP1 TWIST2 LMNA GJA5 EXT1 MED12L HUWE1 SMARCC2 KIF15 CLIC2 TAF1 DYRK1A HNRNPK CCDC8 DISP1 SRCAP CEP55 SETBP1 FBN1 HDAC4 ATP6V1A MMP2 MPDZ FGF8 DMD AUTS2 DYNC1I2 ACSL4 ZNF711 ADNP LTBP3 CNKSR2 CCNQ SEC24C MID2 BICRA ARID2 RERE SCYL2 SLC35C1 COMT RAB3GAP2 PDE4D ATRX JMJD1C PURA TLK2 ACTL6B RAB39B CDK10 PGAP2 EFNB1 GDI1 ARID1B NHEJ1 RPS6KA3 ALG13 LMX1B STAG2 PACS1 MECP2 USP27X PORCN ECEL1 CENPJ RUSC2 STIL KAT6A TBL1XR1 CTNNB1 HIRA PIK3CD GLI2 MED12 SOX5 ATN1 TBX1 TBC1D24 SETD5 IQSEC2 KIF7 ODC1 AP4B1 LRP2 PHF8 TBX4 SIM1 ELN TBCK KMT2A CPLANE1 XRCC4 CAMTA1 TCF4 KDM5B UPF3B PIGO PUF60 CASK IGF1R KATNB1 KCNJ6 KCNN3 USP9X EXTL3 QRICH1 ATP6V1E1 MED13L CPT2 CLCN4 WAC KIFBP ZNF292 ARVCF KCNK9 KCNH1 KIAA0753 CUL7 RREB1 EIF5A CEP57 EDEM3 PGAP3 ALX4 RBMX SOX11 CILK1 HS2ST1 NXN SMPD4 TFAP2A KIF11 DLX4 CDH11 CHRNA7 PIGL KNSTRN COG4 MYCN KAT6B PHF21A ABCC9 SPEN SC5D BCOR C2CD3 ESS2 ZNF41 PIGV PTPRF GLB1 KDM1A PPP2CA ZNF81 SMC3 ACTB RARB ATP6V0A2 KPTN NACC1 PRKACA KMT2B AGTR2 ACTG1 ADAMTS18 MBD5 RNF135 FTSJ1 PAK3 PIGY DPF2 CIT TCF20 DGCR8 SMARCB1 MUSK WDR26 CDC42 HECW2 TBX2 FOXG1 SPRTN ZBTB20 ABCA5 MYMK DOCK6 PDE6D GPAA1 ZMPSTE24 ECE1 ALDH6A1 SH3PXD2B HK1 YY1 HDAC8 KDM4B LMBR1 AFF3 DPYD TRPS1 TP63 PIGW KCNJ5 FAM149B1 PIGQ CCNK FOXP1 SMARCD1 FMR1 FLCN MED25 POGZ TGFB3 ARID1A TFAP2B SOX4 PRKACB COLEC11 ARHGEF6 SMARCAL1 SNIP1 FZD2 SLX4 PCGF2 UNC80 DGCR2 KDM6A TMEM231 SMARCE1 PRMT7 SIX2 FLNA ALG3 HSPA9 GJA8 TMEM216 MRAS FREM1 ASXL3 TUBGCP2 SMARCA4 MLXIPL PTCH1 LAS1L EXOC2 MYO18B DGCR6 TSPAN7 PYCR2 TRRAP MTX2 STEEP1 MESD COG6 TBC1D23 OFD1 UFD1 EBF3 KDM3B IL1RAPL1 SNRPN NRAS RNU4ATAC GP1BB METTL5 TGIF1 POR SRD5A3 CDK19 FLNB IDUA HRAS HCFC1 RAB3GAP1 EFEMP2 MAP3K7 SMG8 EPG5 TONSL CUL4B HP_DEPRESSED_NASAL_TIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEPRESSED_NASAL_TIP EXT2 MUSK KDM6A SHH LMBR1 ZIC2 ACTB TBX2 TGIF1 SIX3 TP63 ZEB2 COLEC11 EIF2S3 KMT2D MYCN TAF1 FGFR1 ACTG1 PHF21A DISP1 KMT2A PTCH1 STIL EXOC2 GLI2 FGF8 ALX4 EPG5 CILK1 FLNA SPTBN1 HP_CONVEX_NASAL_RIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONVEX_NASAL_RIDGE C12orf57 ATR TENT5A ZPR1 KDELR2 CTBP1 TRAIP COL1A2 ERF SATB2 POLR3A DONSON WRN LMNA PEX1 COG4 SLC2A10 ALG9 RNASEH2A PCNT CEP152 CREBBP FGFR2 ZMPSTE24 SLC25A24 RMRP RBBP8 XRCC4 ATRIP MBTPS2 UBR1 ERCC4 LETM1 TBCE CENPJ NHEJ1 NSD2 DNA2 FGFR3 POLD1 FGFRL1 MEIS2 ITCH CPLX1 ASPH RUNX2 VPS13B NBN BANF1 ERCC2 ATP7A ZEB2 APC GRIP1 CENPE TWIST1 MGAT2 NUP188 COL1A1 PTF1A EP300 PPP2R3C EFEMP2 PLK4 CSGALNACT1 COL3A1 LRP4 LEMD2 HP_WIDE_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDE_NOSE BRCC3 TBX1 RAI1 HMGA2 BUB3 MGP BUB1B GDF5 BUB1 KCNH1 DONSON ZNF341 KIF11 DVL1 HCCS TTC37 RTL1 MAN1B1 TRMT10A GPC4 WDR35 FUCA1 GPR101 CKAP2L IDUA PIGG WBP11 DLK1 NOTCH2 RPS6KA3 LMX1B IDS DYNC2I1 CRLF1 ACTB LARP7 ATP6V1B2 IFT80 INSR NDUFB11 SKIV2L FHL1 WNT5A SIN3A ACTG1 ADAMTS18 AIP SMARCE1 DYNC2I2 TBL1XR1 TMCO1 ACY1 SEC23A DYNC2H1 RELN FRAS1 MOGS RNF2 SATB2 AVP CLCF1 DVL3 OTUD6B VPS33A KAT6B KMT2A CEP57 STAMBP CAMTA1 SMARCA4 STXBP1 NANS PPP1CB PPP1R15B MEG3 VPS53 TOGARAM1 STAT3 KCNN3 ALG12 TONSL PAFAH1B1 LEMD3 OFD1 SMARCA2 QRICH1 ASPH RNF125 TRIM37 PAM16 CHD8 GRIP1 TRIP13 PTEN COX7B YWHAE HDAC4 FZD2 FGFR1 TCTN3 SMARCB1 SETD1A ARID1A COG7 HP_NARROW_NASAL_BRIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_NASAL_BRIDGE RNU4ATAC SMARCA2 GDF5 SIM1 PPP1R21 RNF13 ZIC2 CDON HERC2 COG4 BMPR1B NDN PORCN SIX3 SNRPN FGFR1 NFIB NDP MAGEL2 PWRN1 FOXH1 PTCH1 KCNJ6 GLI2 MKRN3 PWAR1 SHH NONO GJA1 CREBBP NODAL KCNK9 PAX3 TDGF1 EP300 COL3A1 NPAP1 SRCAP DLL1 MED12 TGIF1 MMP2 DISP1 SNORD116-1 MDM2 FGF8 GAS1 SNORD115-1 SUFU RECQL4 HP_PROMINENT_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_NOSE ATR PMM2 TAB2 CLTCL1 WDR73 CHD3 ACER3 LMBR1 PDE4D INTU TTI2 USP9X FGF3 ITGA3 APC2 MAN1B1 RNU4ATAC CENPE KAT6B GPC4 EMG1 AP1S2 SPART PCNT SNRPN UNC80 SRCAP OPHN1 BPTF ZNF699 LIG4 CEP120 DENND5A MED12 NFIX NHS METTL5 RBBP8 PEX19 PLK4 SPOP QRICH1 NONO STAG2 SOX6 ADAT3 ASPH FBXL3 NIN NBN ACTB EXTL3 HYMAI RLIM CDK19 TAF6 FHL1 CTSK ACTG1 MBD5 RUSC2 DCAF17 EIF4A3 PLAGL1 COG5 PEX3 AP4S1 EP300 BLM SMG8 PSMB8 STIM1 DYNC1I2 POC1A NSUN2 PSMD12 BCL11B CUL4B HP_CHOANAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOANAL_STENOSIS SOST FRAS1 POLR1D FAM20C TXNL4A POLR1B POR FGFR2 ASXL3 MSL3 PTDSS1 FGFR1 DCHS1 CEP55 SETBP1 NFIX SALL4 PTH1R RECQL4 SCARF2 FAT4 HP_FLARED_NOSTRILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLARED_NOSTRILS BRCC3 ANKRD17 PDHA1 USP9X CDC42 SIN3A SMOC1 HP_BROAD_NASAL_TIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_NASAL_TIP NXN TFAP2B EXT2 MID2 SOX4 ARID2 TFAP2A KIF11 CDH11 RAB3GAP2 CCNQ ALX3 KNSTRN GATAD2B EIF2S3 ARHGEF6 PURA TLK2 PHF21A POGZ APC RAB39B DOCK7 EXOSC2 CDK10 TCTN3 BPTF GDI1 MCTP2 KDM6A ZNF41 ARID1B RPS6KA3 SMARCE1 PTPRF WAC PIGV ARSL ALG13 SLC9A7 PRMT7 GLB1 SIX2 PPP2CA BCOR ZNF81 MECP2 ATP6V1E1 EXTL3 USP27X RARB ATP6V0A2 FRMPD4 TMEM216 PRKAR1A KPTN ASXL3 NACC1 AGL AGTR2 PTCHD1 SMARCAL1 PGAP2 ADAMTS18 ARX PORCN SMARCA4 MLXIPL RNF135 FTSJ1 PAK3 LAS1L DPF2 AIFM1 ASXL2 KAT6A TSPAN7 TBL1XR1 DPYD CTNNB1 PIK3CD FOXP1 MED12 ATP6V1B2 SMARCB1 TBC1D24 IQSEC2 KIF7 TBX2 STEEP1 LRP2 PHF8 COG6 ZBTB20 ELN MYMK OFD1 EBF3 SYP KDM3B IL1RAPL1 CPLANE1 XRCC4 DLG3 SNRPN KCNN3 NRAS PDE6D GPAA1 UPF3B PIGO CTCF ZSWIM6 PUF60 CASK IGF1R SH3PXD2B USP9X METTL5 QRICH1 HNRNPK HDAC8 CLCN4 DYRK1A HUWE1 SMARCC2 KCNK9 TAF1 FLNB FAM149B1 IDUA PIGQ KIAA0753 HRAS HCFC1 CCNK RAB3GAP1 SRCAP SETBP1 SMARCD1 HDAC4 ATP6V1A PGAP3 DMD MAP3K7 ALX4 SOX11 ACSL4 ARID1A ZNF711 HS2ST1 ADNP CNKSR2 HP_BIFID_NASAL_TIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIFID_NASAL_TIP BCOR CENPJ HSPA9 EFNB1 FREM1 FRMPD4 ZSWIM6 ALX3 ATP6V1B2 ALX4 FZD2 HP_DEPRESSED_NASAL_RIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEPRESSED_NASAL_RIDGE TBX1 DLL1 TCTN2 TMEM107 SHH FOXH1 SNAP29 CNOT3 BUB3 SIX3 BUB1B BUB1 TDGF1 STAG2 TMEM231 GMNN CDON SLC35C1 SMC1A PTCH1 SPEN FGFR1 TTC37 BMPER ZIC2 RMRP GLI2 STIL SOX3 GAS1 TCTN3 MMP23B PKHD1 EDARADD PEX12 FGF8 PAX7 RPGRIP1 NODAL ARSL ABCA12 MAN2B1 HSPA9 GLI3 KCNAB2 TCTN1 PROP1 DISP1 B9D2 GLB1 HESX1 CSPP1 EFNB1 UBE4B TRAF6 PRKAR1A PSAT1 ITGA8 MKS1 PEPD KDF1 PIGL FAM20C TFAP2B TWIST2 SKI AASS LHX4 TMEM216 EDA LMBR1 RERE PRKCZ HSPG2 PHGDH FGF20 ALX4 DZIP1L PDE4D OTX2 NALCN CEP57 CASZ1 CC2D2A PRDM16 RET POU1F1 MYH3 SOX9 RPGRIP1L LUZP1 CHRND TGIF1 HDAC6 TMEM67 RPS19 CHRNA1 ATRX CREBBP B9D1 FOXA2 EDAR TRIP13 EDA2R PRMT7 GHR CHRNG GREB1L MN1 PTPN11 TXNDC15 GABRD PDPN PAX3 TMEM237 CEP290 HP_ANOSMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANOSMIA FGFR1 SHH DUSP6 TACR3 PROKR2 SCN9A CCDC141 SIX3 HS6ST1 NDNF ARNT2 ATP13A2 PEX7 OTX2 SEMA3A SEMA3E SOX10 FGF8 GNRH1 FGF17 WDR11 STIL GLI2 ANOS1 ARSL IL17RD DISP1 FGFR2 PROK2 DCC HESX1 SMCHD1 ADCY3 ZIC2 PHYH KISS1 FLRT3 LZTFL1 ANK1 SOX2 CHD7 FEZF1 FGFR3 SOX3 DNAI1 KISS1R MFN2 TAC3 NSMF SPRY4 FGF10 HP_NARROW_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_NOSE COL5A1 HYOU1 MTX2 FBN1 RNU4ATAC SATB2 SMC1A ABL1 DDR2 POLE TP63 EYA1 ACP5 ERCC6 CARS1 FGFR2 TWIST1 CCNQ PDGFRB SCARF2 ERCC8 TRRAP GJA1 HP_ABNORMALITY_OF_THE_NECK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NECK ERCC2 PSEN1 A2ML1 KIAA0586 PIGA CIZ1 SELENON FLI1 VPS16 BBS1 VPS51 BMPER MAP2K2 HNRNPK TRMT10A DDRGK1 APC RAB23 FOS GNAS SVIL TPM2 OBSL1 MRPS28 LIPE PPP2R5D BRAF GATA1 AGPAT2 CBL SPEN PEX3 MAP2K1 XYLT2 STX16 PEX12 SOS2 MRPS16 TECPR2 POU1F1 EYA1 NXN LMNA TUBB3 SOS1 SPG11 RPS27 ATP6V1B2 VCP MIR140 AKT1 PIGN FIG4 COL11A1 NRAS GATA2 BBS9 CTBP1 NOTCH3 MKS1 GNAL PRKCZ ACTB MYH3 OTUD6B SHH RSPRY1 SCAPER STXBP1 NANS VAC14 ZNF699 CEP290 ROR2 MEG3 MED12 RPS29 MESP2 RPS10 LRP1 PTCH1 NCF1 TRAF3 ATP7A POP1 TMEM106B POLE SUFU TRIP11 GUSB MYOD1 PIK3C2A PEX19 RRAS2 RFT1 SETBP1 AEBP1 YWHAE COG5 GNS PSENEN CD96 UBE2A COL6A3 BCL7B PPARG RPS24 CHN1 NAA10 CEP85L TBL1XR1 SLC2A1 B3GAT3 SCYL2 COMT DONSON MAPRE2 DVL1 ATRX COG1 PGAP1 PTCH2 CDK10 PGAP2 TLR3 SRCAP WDR81 KIAA1109 SHOC2 ELN SCN1A SIX1 ZNF142 ACAN EIF4H LMX1B DRD2 HRAS NKX3-2 RRAS TOR1A FGFR1 FOXE1 UNC93B1 BPTF POLR1B IDUA ECEL1 BRD4 BUD23 MTX2 TRPV4 MEFV HIRA DLK1 SLC39A13 GLI2 PPP1CB CLDN3 RPS26 FLNA COL6A1 TBX1 CLDN11 MYH7 IGF1R HSPG2 SLC26A2 KIF7 TBX15 TCF4 SDCCAG8 PNKD DDR2 SMC1A DISP1 ERMARD KCNN3 CFAP418 ADAT3 ATP6V1E1 RAPSN GLE1 CANT1 POLR1C KIFBP PHGDH SCN9A COL2A1 MRPL12 POFUT1 NEK9 EDEM3 TMEM270 TRIM32 CEP19 PDPN TUBB4A RAF1 RPS28 SMPD4 GPC4 RIT1 MEOX1 PIGL TRAPPC2 FLNB RIPPLY2 RPL18 HPCA PEX1 SLC25A24 ESCO2 DOK7 KMT2A BBS12 SIGMAR1 CHRNG PEX26 IDS NPHP1 ZIC2 SMC3 TCOF1 FGD1 LHX4 CHST3 NELFA GNPTG KMT2B HPDL FOXC2 BBS5 BBS7 PIEZO1 FTO METTL27 MAPK1 ALDOA SIX3 FHL1 LMOD3 CUL4B RAB3GAP2 MUSK ZC4H2 TRAPPC9 PEX5 PTEN KCTD17 ERCC6 NFIX PIGS HESX1 ABCC6 MYF5 GPC3 KCNC3 SH3PXD2B TFAP2A CDC42 LUZP1 KDM4B WDR35 GNE DPYD THPO RFC2 WNT5A GABRA1 PIGW TAF1 B3GLCT EBP ROBO3 CRKL ALG9 IFT172 FN1 NOTCH2 PSMD12 ATP1A2 WAC SNRPB INPPL1 MAPT PIGG COG7 TREM2 PALB2 DHX37 SMAD4 SLC18A3 CLIP2 SMARCAL1 RMRP ABHD11 POGZ TICAM1 MEGF8 LETM1 NUP88 STX1A CCDC22 CCDC8 WDPCP COL12A1 TMEM260 RPS19 PRKRA HES7 CHMP2B PSAT1 MYO18B GZF1 NALCN KIF1C SALL4 FAM20C HYLS1 PIGY RPL11 XYLT1 NDUFB10 ABCC9 TGM6 VPS33A UFD1 RNU4ATAC MRAS ATP1A3 POGLUT1 TNNT3 RIPK4 FBN2 GDF3 LZTR1 ALS2 IGF1 ACTA1 FGF8 CSPP1 TAPT1 GTF2IRD2 TBX6 GP1BB RPL10 TTC8 VPS37D BRF1 ANO3 RAB3GAP1 GPC6 HABP2 FUS WNT7A NOG LHX3 SHOX TCTN2 NF1 PEX6 RTL1 GTF2I SLC35D1 HDAC8 B3GALT6 BUB1B THAP1 LFNG CFL2 KCNJ8 ADA2 KRAS SYNGAP1 ARL6 INTS1 AMMECR1 MAN1B1 MMP23B C9orf72 MCTP2 GCH1 DCC ANTXR2 SOX9 CAVIN1 SPTBN1 RAB33B MAN2B1 GDF6 PEX10 WDR37 EFNB1 MGAT2 MECP2 NUP188 AIFM1 ERCC1 TBL2 SGCE NKX2-1 CACNA1A OTUD5 EMD SATB2 IGBP1 RERE PEX16 SLC35A2 SMS TUBB RPS20 WNT4 MADD UNC80 DVL3 FGFRL1 PEPD KRT5 FANCL CPLX1 LBR HUWE1 RPL26 COL11A2 PUF60 DNAJC30 MYLPF GRN CDH2 CEP55 BCR ATP6V1A BBIP1 FGFR2 PTPN11 TASP1 MPL RAD21 TALDO1 TBP SEC24C LZTFL1 RPL27 FANCI POLR1D SCN2A INTU JMJD1C ACTG1 COX20 TRAF7 WBP11 NIPBL KLHL41 CUL7 SLC35A1 IRF3 HERC1 COL6A2 RPL15 UBE4B STIL MINPP1 TGFB2 PIK3CD PIEZO2 BSCL2 TBC1D24 GPX4 PHF8 CREBBP CCN6 SQSTM1 TBCK GPKOW NEB RPL31 PEX2 ALG8 MED13L CHRNA1 SIX5 TBR1 PEX14 ARVCF PAM16 KCNH1 SRY KNSTRN TTN RREB1 FZD2 EP300 WASHC5 ATN1 BBS4 BBS2 RPS17 PRRT2 HS2ST1 NSD2 ERLIN2 ENPP1 RPS15A CNOT3 CDH11 MAFB BCOR EXOSC9 GTF2IRD1 DKK1 FANCB DYM GATA4 C2CD3 RPL35 FBXW11 FOXF1 PIGV RPL35A EXOC6B IFT27 ANKRD11 GLB1 TSR2 CDK5 TMCO1 IFT74 CHD7 IRX5 TBX2 PROP1 DLL3 TBK1 HDAC4 TWIST1 RPL5 MRPS22 AMER1 PKDCC PPP1R15B TOGARAM1 CTNND2 HK1 ZMPSTE24 CHRND TGDS AFF3 HBA2 MSL3 PRMT7 MKKS SEMA5A SMARCD1 CYP27A1 IFT43 PGAP3 RB1 GABRG2 NLRP1 LIFR PEX11B COLEC11 SEMA3E RDH11 SCN1B PCGF2 CNP LAT2 NBN HSPA9 KCNAB2 SPRED1 TNNI2 RPS7 SCP2 LIMK1 NBAS SKI CP BAZ1B ATP13A2 PIGO CASZ1 SNRPN PRDM16 HBA1 DHCR7 PEX13 CAV1 ALG12 PAFAH1B1 OFD1 PCDH19 ERCC5 FKBP6 CRLF1 CLDN4 RASA2 GDAP2 MLXIPL NDE1 ATP6V0A2 MAP3K7 GABRD DDC BBS10 HP_WEBBED_NECK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEBBED_NECK RPS28 RB1 A2ML1 PTPN11 GPC4 RPS15A CTBP1 B3GAT3 RPL27 RIT1 MAFB BCOR ADA2 MEOX1 KRAS SHOC2 SEMA3E RPL18 BMPER GDF6 MAP2K2 ACTG1 NRAS RAF1 KMT2A TPM2 KIAA1109 CHRNG C2CD3 MEGF8 RPL35 LETM1 FBXW11 WBP11 NSD2 RPL35A AEBP1 LMX1B BRAF SLC35A1 HRAS GATA1 ACTB SOS1 CBL MAP2K1 XYLT2 CHST3 RRAS RPL15 SOS2 TMEM260 SNRPB TSR2 RPS19 MYH3 TNNI2 FOXC2 RPS7 MYO18B PIEZO1 NALCN SALL4 MAPK1 RPS27 SLC39A13 ANKRD11 PPP1CB CHD7 NKX2-1 NF1 RPL11 CDC42 IRX5 TBX2 IGF1R GATA2 MKS1 SMS RPS20 MRAS RPL5 AMER1 TNNT3 RPL31 GDF3 STXBP1 LZTR1 NAA10 GPC3 DVL3 TAPT1 FLI1 FGFRL1 ZMPSTE24 RPS29 CPLX1 RPS10 RPS26 RPS24 RPL26 LMNA RASA2 B3GLCT SRY PIGL RRAS2 RPS17 GLE1 MAP3K7 TASP1 CHN1 HP_LIMITED_NECK_RANGE_OF_MOTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_NECK_RANGE_OF_MOTION SCN1A MEOX1 GABRG2 GDF6 MYLPF SCN9A SCN1B STXBP1 GABRA1 PCDH19 NOG SCN2A HP_NECK_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NECK_MUSCLE_WEAKNESS TPM2 NEB COLQ MYL1 AK9 CFL2 SLC18A3 PNPLA2 SELENON CHCHD10 CNBP DMPK MUSK TRIP4 SIGMAR1 CHRNE SNAP25 CHAT CHRND LMNA ORAI1 TTN COL13A1 KLHL41 CAV3 SLC5A7 RRM2B CHRNB1 AGRN SCN4A ACTA1 DES TRIM32 CHRNA1 NOTCH2NLC MYO9A RAPSN GMPPB MYH7 SGCG PRPS1 SPG11 LAMA2 TPM3 DOK7 LMOD3 DYSF TMEM43 MYH2 MORC2 CRYAB SLC52A3 TGM6 SLC25A1 GALC PYROXD1 MYPN TOP3A FA2H KBTBD13 VAMP1 GFPT1 ALS2 MYOT RNASEH1 COL6A3 PABPN1 SLC52A2 LRP4 GYG1 COL12A1 SYT2 SYNE1 LAMB2 SLC22A5 MTM1 COL6A2 PSAP FUS COL6A1 HP_LONG_NECK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_NECK HERC1 ATP7A EBP EYA1 FLNA HP_THICKENED_NUCHAL_SKIN_FOLD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICKENED_NUCHAL_SKIN_FOLD TBC1D24 PSEN1 A2ML1 PTPN11 ENPP1 PEX6 PIGN NRAS RIT1 PEX11B PEX16 SLC35A2 PSAT1 GATA1 PEX5 SLC26A2 ALG9 KRAS HNRNPK EBP PEX1 MRAS TRIP11 SQSTM1 RAF1 MAPT PEX2 LZTR1 C9orf72 ABCC6 TRAF7 PEX26 FOXF1 PEX13 RNU4ATAC OFD1 TMEM106B CBL PEX14 PEX3 TREM2 RRAS PEX10 RASA2 PEX12 SOS2 EFNB1 GRN PEX19 RRAS2 CHMP2B HRAS VCP SOS1 ATP6V1B2 HP_BROAD_NECK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_NECK NUP88 SLC2A1 NF1 DHX37 RPS28 CCDC22 POLE COG1 TWIST1 MAPRE2 TECPR2 B3GLCT UBE2A BPTF SVIL IGBP1 RAPSN PPP1CB PSMD12 TOGARAM1 MED12 WNT7A RPS26 HYLS1 HP_CYSTIC_HYGROMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYSTIC_HYGROMA LBR A2ML1 RAPSN CHRNA1 PTPN11 WDR35 MUSK CBL NRAS RIT1 MAP2K1 BRAF DONSON RRAS SLC18A3 RASA2 MYOD1 SOS2 SLC26A2 HNRNPK KRAS ESCO2 MRAS TRIP11 RRAS2 RAF1 CEP55 LZTR1 KIAA1109 NUP88 PIGS DOK7 TRAF7 ATN1 MCTP2 FOXF1 CHRNG SOS1 IFT43 COL2A1 CHRND TGDS HP_ABNORMAL_RETINAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RETINAL_MORPHOLOGY RNU4ATAC SDHD SLC25A15 CCDC32 KIAA0586 CACNA1A CEP290 CRB1 DPM1 USH2A TMEM67 AGXT INPP5E PDE6G NDP MT-TK RERE ADGRV1 WDFY3 STN1 ERCC8 CDH3 TUB CEP41 GUCA1A HMX1 MT-TS2 XYLT2 KRAS RPE65 ZEB2 MT-ND1 PEX12 IFT140 FAM111A ATXN7 TREX1 MT-ND4 KCNMA1 BCS1L GABRB2 ACVRL1 IDH3A SAG NTRK2 CHST14 MIR140 MT-ND2 NGLY1 RB1 ZNF408 TRAK1 HUWE1 CCDC39 CACNA1F TOPORS PEX6 DYNC2I2 GUCA1B PDX1 PEX5 BBS2 SALL4 TYR VPS41 FZD4 IFT88 MEG3 MYO5A USP45 CFAP418 TACO1 ERCC2 HSPD1 MT-ATP6 DYNC2I1 PAX2 PDE6C GAS8 NCF1 B9D1 INSR MT-TL1 MT-TE CDKN2A CFH ERAP1 PAX6 CFAP410 COL9A2 RGR ABCA4 B4GAT1 PRPF3 UBA5 CHN1 CTNNA1 JARID2 ARL3 DNM1 LRIT3 TK2 RSPH4A ZMIZ1 NEU1 C12orf57 PGAP1 GRK1 MAX PET100 ELN SACS SLC38A8 CACNA2D4 RLBP1 EIF4H COL4A1 ITM2B B3GALNT2 PANK2 NDUFA12 CEL RRM2B OTX2 PRPH2 NDUFS3 WFS1 B9D2 CRPPA CYFIP2 MGMT LYST MT-CO1 MED27 GMPPB TULP1 IDUA AARS1 DHX38 SCN3A ARL13B COX8A RAI1 MKS1 DHX16 HIRA GLI2 DACT1 CLDN3 TBX1 TMEM216 RHO FGFR2 CDHR1 IL10 EXOSC3 LARGE1 WWOX SDCCAG8 CC2D2A SMPD1 PDE6B FKTN NAA10 TUBGCP6 DISP1 HNF1A DNAAF3 RBP3 SDHB CASK LRP5 TSPAN12 CNNM4 ATP6V1E1 XYLT1 CNGB3 GPR179 PPP3CA MTTP FOXC1 OPA1 EDN3 SERPINC1 COL2A1 ABCC8 VPS13B RDH5 CTSA PDE6D G6PC1 APOE LAMA1 TMEM270 RXYLT1 NPHP1 SATB1 TP53 RP2 NMNAT1 PDZD7 KIF11 MYD88 CA4 ODAD2 BEST1 ALDH3A2 COA8 OVOL2 RAB3GAP2 IFT80 BBS12 BCOR TCTN3 VHL GUCY2D ESS2 CFI LPAR6 C4A IDS WHRN ZIC2 ATOH7 HADHA TMEM127 GGCX FLVCR1 CCNO LRAT DRC1 BMP4 ADAMTS18 SLC19A2 BBS5 CHST6 IMPDH1 MC1R RPGR RNF113A METTL27 PIGL CLDN19 TRAPPC9 RELN EFEMP1 SH3TC2 HS2ST1 HCN1 CWC27 PUS7 CBS GNA11 PTEN TUBGCP4 PLOD1 TMEM98 ABCC6 TUBB TFAP2A MVK RLIM IKBKG FLNB FKRP RFC2 TRIM37 RSPH1 ATXN2 AIRE SCAPER FGF13 KCNA2 IFT172 SOX10 PEX10 FBN1 NME8 ARV1 MFSD8 KLHL7 HADHB PIGG CFHR2 ENPP1 PRTN3 KCNJ13 CFHR1 AIPL1 KCNB1 CLIP2 MYOC CSPP1 RMRP EYS POLG LPL SLC6A6 PIEZO2 FLCN TTC21B TRIP12 HGSNAT WDPCP AMACR SLC35A2 CACNA1B SCO2 PEX1 STAT3 ACO2 PRCD SDHA ERCC6 APOC2 ALG6 SLC24A5 GAS2L2 TMEM107 DHDDS DPYSL5 BAP1 CTNNB1 PEX7 TINF2 HACE1 DDX6 DYNC2H1 SLC12A6 POMGNT1 SYNGAP1 FGF12 CCDC40 FGF8 MT-ND6 STUB1 GP1BB RDH12 SMAD4 PNPLA6 TTC8 POU3F4 LZTFL1 SEMA4A COL11A1 GNAQ BLM NUS1 KRIT1 NDUFB8 SLC24A1 AP3B2 SZT2 MAPRE2 PPP2R3C TUBB4B OFD1 STK36 PROM1 KMT2E SURF1 GTF2I CFAP221 HLA-DPA1 WRN LMNA KIF5A INTS1 ARL6 EXOSC2 NYX DNAJC21 SYNJ1 CCR1 SPG11 PEX3 C2CD3 DPP6 IDH3B SPTBN1 TXN2 ARL2 DNAJB13 CHM DARS1 IMPG2 CYP1B1 ZNF469 TSC2 GNAT2 CDK4 COX7B IMPG1 CLTC ODAD1 ZNF423 COL9A1 BBS10 PRPF31 GABRA2 HLA-B RNF216 CRX MIA3 BPTF PEX16 PTPN23 TSC1 SLC45A2 ADAM9 TERF2IP BBS4 CEP83 ZFYVE26 DNAH11 CCM2 STAT4 CLCN2 RPGRIP1L LIPT1 SLC19A3 REEP6 FSCN2 HPDL HCCS DNAJC30 SALL1 BCORL1 SUMF1 ATF6 PEX2 TPP1 ATP6V1A PSMD12 ACTL6B FBLN5 CHD7 APOB AGO2 TXNDC15 FGFR1 RAB28 SEC24C SHH ERCC5 GATA3 NSMCE2 HK1 NR2E3 DYRK1A WASF1 IQCB1 POMT2 MIR204 AHR ADAR DNAAF4 HNF4A DPAGT1 NF2 SLC37A4 DAG1 PTPN22 FDXR TCF20 KRT25 PPT1 ARL6IP6 POMT1 KAT8 GCDH LRP2 HSD11B2 INVS CNGB1 RS1 APC P3H2 CYP4V2 SLC7A14 GTF2E2 CLN6 ELOVL4 WDR19 TTLL5 LTBP2 PRPF6 RET EPAS1 FOXRED1 CLCNKB WAC ARVCF PEX26 B3GLCT NDUFAF1 PRDX1 SDHAF2 NDUFAF5 TRAPPC4 CTLA4 CTC1 HPS6 LRRC56 MADD CFHR3 MT-TS1 MAFB GTF2IRD1 TMEM237 ALDH1A3 NTNG1 FLII MEFV ASPA DNMT3B ELMO2 TENM3 AP5Z1 PRPF4 TLCD3B POMK USH1C MT-ND3 MT-ND4L FOXE3 POMGNT2 GLB1 SLC12A2 NDUFB11 CCDC28B SYCE1 GABRG2 GNAT1 ACTG1 ROM1 PRF1 NDUFA2 TIMP3 MT-TH MTFMT SMCHD1 CABP4 RP9 GALC POT1 TMCO1 LCA5 IFNG MAGEL2 DLST WT1 IL12A-AS1 DSE HLA-DPB1 DNM2 BBIP1 GDF2 AGBL5 SALL2 TMEM231 RAX2 OPN1SW MKKS POGZ HYDIN COL8A2 HSD17B10 HBB TAF2 PEX19 TEK SEMA3E RDH11 TRIM32 MCIDAS CDKN2B TBX22 CLN3 NDUFA9 MAN2B1 LAT2 PHYH CHEK2 NEUROD1 GNPTAB CFAP300 NRL MSTO1 FOXJ1 IL12B DGCR6 LIMK1 GPIHBP1 CP PRDM5 CEP164 C1QTNF5 DNAI2 NDUFA4 MAK NDUFS1 SPATA7 CLRN1 OPN1MW IFT27 RSPH9 INS CCND1 BBS9 ALG12 PRPF8 PROS1 KIAA1549 TRPM1 VPS35L MT-TV USH1G COL9A3 DLK1 SF3B1 DYNC2LI1 ARL2BP ENG GNB3 PCARE GRN BBS1 HEXA KCNJ11 IGFBP7 CDK19 SLC13A5 PRPS1 GALNT3 CENPF FAS NDUFS2 TNFRSF11B MDH2 SBDS CNKSR2 ERCC3 AKT1 SDHC MYO7A PDE6H CTBP1 RBP4 ACTB ESPN MT-CO3 SLC1A2 LOXL3 RP1L1 NOD2 OCA2 MT-TW SELENOI ACD KCNV2 HLA-DRB1 TNFRSF11A BCL7B DNAH5 MFRP PRSS56 MT-CYB UBE3B COMT MT-ND5 DRAM2 IL23R MPLKIP PTCH1 DNAH9 GCK TTC12 RAB18 NEK1 JAG1 SVBP TANC2 NHS CCDC65 CNGA1 KIF1B TARS1 BUD23 NDUFA13 RPGRIP1 ATG7 KRT74 EEF1A2 PMM2 STXBP1 KIZ ODAD3 MAB21L1 DOCK3 MT-TF GRM6 FH GRIN2D GDF3 TRIM44 CST3 OPN1LW CEP19 ECHS1 NF1 CEP120 SIM1 RPL10 UBAC2 PCNA DEAF1 AHI1 HEXB RTTN YAP1 PGK1 TELO2 NELFA BLOC1S3 GDF6 LOXL1 BBS7 SIX3 PEPD TLR4 CELF2 SNRNP200 SPEF2 ADAMTSL4 PEX14 ACBD5 VPS4A RP1 CNGA3 ARHGEF18 POC1B PCDH15 XRCC4 DPYD ACTL6A MAPK8IP3 ANK1 PEX13 ODAD4 PDHA1 DCT CLCC1 FRG1 ERCC4 ZPR1 DNAH1 ABHD11 ALG8 MMACHC GSS DGCR2 HLA-A OAT MT-CO2 MT-TN NDUFAF6 DNAAF1 STX1A FBN2 DDR2 GABRA5 CREBBP NDUFA10 PCYT1A NDUFV2 NOTCH2NLC SPAG1 MT-ATP8 LIPH GZF1 WARS2 PDCD10 NDUFV1 IQSEC2 DNAL1 FGF3 KLF11 ALMS1 SCN8A APPL1 DNAAF6 IL12A VPS33A RIMS1 UFD1 MED13 CDH23 YWHAG NEK2 HPS5 GTF2IRD2 RNASEH1 DUX4 CTSD DLAT VPS37D TMEM138 TERT CRYAB SAR1B MCOLN1 GM2A NDUFAF2 CAV1 COQ2 MAF RAB3GAP1 RTL1 IVNS1ABP CTNS TCTN1 VSX1 MERTK GRIA4 ERCC1 TBL2 RSPH3 NPHP4 CLN5 COG1 UBR7 HHAT MYO6 PORCN F12 TRNT1 TRAF3IP1 MITF SRD5A3 COL18A1 ASXL1 PUF60 MORC2 DNMT3A KDM4B NDUFS8 KRT71 PDE6A MPDZ OCRL GTF2H5 VCAN ISCA1 ANO10 CCNQ CHRDL1 RD3 JMJD1C LRRC32 DNAAF2 CERKL SDHAF1 CPLX1 TTPA CYSLTR2 ETHE1 GPR143 COX15 HADH PARS2 STIL CCDC22 DNAI1 NEK10 CNOT3 NDUFS7 ADAMTSL1 TET2 ZEB1 MICOS13 GNB5 FAM161A PITPNM3 UNC119 MT-TQ LETM1 SLC25A11 ACTA2 SH3BP2 ARMC9 RREB1 TRMT1 EP300 RPS6KA3 WASHC5 BLOC1S5 PSAP FBXW11 NSD2 MYT1L GRHL2 KLRC4 ACOX1 RIMS2 TBC1D20 HPS4 NECAP1 MLX DGCR8 IFT74 PEX11B BLK MAPKAPK3 PAX4 PIK3CA NDUFAF3 IFT122 RCBTB1 CIB2 NPHP3 DNAAF11 CFAP298 CYP27A1 PALS1 ASAH1 CAPN5 KIF3B SH2B1 HMCN1 NCAPG2 PISD MLXIPL ZMYND10 ZNF513 BAZ1B ABHD12 SIX6 POLR3A UGP2 GBA FIBP NTNG2 CCDC103 YARS1 PLK4 EDNRB CEP78 TEAD1 FKBP6 DNAAF5 CLDN4 ARSG TERC HTT FBLN1 NDUFS4 DALRD3 NDE1 TNRC6B TCTN2 ATP6V0A2 EPG5 HP_RETINAL_COLOBOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_COLOBOMA PAX2 FGF3 KIAA0586 CEP290 RPE65 PUF60 ZEB2 SPATA7 SEMA3E MKS1 INPP5E TBC1D20 INTS1 AHI1 B3GLCT RAB3GAP1 PRPS1 PIGL LCA5 FIBP LRAT SALL2 CLDN19 RAB3GAP2 MMACHC SALL4 NMNAT1 C2CD3 CEP120 CASK TFAP2A DHX38 CEP41 CHD7 RAB18 HP_ABNORMAL_CORNEA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CORNEA_MORPHOLOGY COL1A1 CCDC32 NRAS COLEC10 BUB1B NTRK1 PCARE GJB6 RAB23 GNAS LAMB3 NDP GORAB RERE OFD1 WDFY3 OVOL2 MBTPS2 ZEB1 ERCC8 PPP2R5D TUB HMX1 DAG1 CENPF ANKRD11 FAS PEX3 CTSA KRAS TGFBI RPE65 NIPAL4 ZEB2 GJB2 PEX12 IFT140 FLNB AKT1 CEP78 ZFHX2 SC5D PLXND1 KCNMA1 ALDH18A1 KIAA1549 IDH3A ERCC4 SAG CHST14 SREBF1 PAX6 NGLY1 HUWE1 IL2RB PIGN FIG4 COL11A1 CACNA1F CTBP1 VSX2 RBP4 IMPG2 TOPORS GUCA1B LOXL3 PEX5 SALL4 ARCN1 IQCB1 STXBP1 VAC14 IFT88 CTCF ARSB ERCC2 FKRP LAMC2 NOD2 LMNA NCF1 MEGF8 B9D1 SPATA7 GUSB GBA UROD KRT12 PEX19 ERAP1 XPR1 AEBP1 KCNV2 FKBP14 BCL7B ALOXE3 LCA5 B4GAT1 CHN1 CHUK ROM1 JARID2 NEUROD2 LCAT TBL1XR1 UBE3B BUB1 COMT IL23R ARL3 MAPRE2 ZMIZ1 SLC2A10 BRCA2 FOXE3 FGFR2 RECQL4 MPLKIP DMPK CEP290 ANTXR1 SHOC2 USH2A ELN TRPV3 SLC38A8 PDE6G EIF4H COL4A1 LMX1B RAB18 GHR OTX2 KIDINS220 TULP1 CRYGC PACS2 B9D2 CRPPA JAG1 SVBP CDH11 TANC2 NHS MED27 CNGA1 COL9A2 FSCN2 IDUA BRD4 APOE TARS1 BUD23 DHX38 HRAS KAT6A RPGRIP1 MKS1 FBN1 HIRA CYP1B1 PSMB8 DACT1 CLDN3 SLC39A8 TBX1 SETD5 TMEM216 CLDN11 FANCB CRYBB1 IL10 KIZ KRT3 POLR3GL RLBP1 TCF4 FERMT1 CC2D2A KDM5B FKTN NAA10 SLC4A4 MAB21L1 POMGNT1 DOCK3 CHST6 TBCE ARHGEF2 CFAP418 KIFBP FGF10 MTTP XPC RBP3 POMT2 DNAI1 TYR VSX1 TWIST2 EDEM3 BRCA1 TMEM270 RXYLT1 SATB1 HMGB3 RAD51C CERS3 KIF11 BUB3 UBAC2 CA4 ALDH3A2 ARL2BP USP45 FOXC1 DEAF1 PEX1 ESCO2 AGBL1 RAB3GAP2 BCOR TCTN3 BEST1 PDGFRB GUCY2D ESS2 PEX26 OCLN COL4A3 IL2RA EMC1 APOA2 C4A NOTCH2 IDS PPP2CA YAP1 GLA EYS ATOH7 ACTB SLX4 LARGE1 NELFA GNPTG PLEC KMT2B LRAT BMP4 BLOC1S3 ADAMTS18 PRCD FOXC2 FGFR3 IMPDH1 MAG RPGR RNF113A METTL27 TLR4 ARID1B PIGL CLDN19 COL17A1 CRYGD GJB3 PPP1R12A HS2ST1 MAP3K7 PUS7 AIPL1 P4HTM PLOD1 GSN ERCC3 SLC39A4 NDUFB11 CRB1 XPA SH3PXD2B RP9 GJA1 ATP7B RLIM MMP1 IKBKG DPYD COL9A1 ACTL6A RFC2 MAPK8IP3 TRIM37 ELP1 AIRE ANK1 FUCA1 SCAPER IKZF1 UBE2T B3GLCT PIGQ STAT4 DDB2 RAD51 ARSG NEU1 WAC OSMR PIGG GTF2E2 TMEM237 TMEM107 KCNJ13 SLC35C1 HLA-B HCCS CLIP2 SMARCAL1 WAS FANCE ABHD11 POGZ SCUBE3 PIGT DGCR2 NSD1 PIEZO2 IFT172 RAX SLC4A11 FANCI VARS1 CRYAA DST COL3A1 CTDP1 STX1A PRPF8 DDR2 TRIP12 HGSNAT BTNL2 NFIX AHI1 COL5A1 FANCL TEK RIPK4 PITX3 IL6ST IQSEC2 PLCG2 POLH EPCAM CTNS FGF3 CLTCL1 DPYSL5 KERA PTEN ATAD3A GNPTAB TINF2 IL12A LTBP2 WIPF1 DDX6 UFD1 MED13 SNRNP200 DCN MAF NEK2 CRYBB2 POMK AHR SMC3 GALNT2 POMT1 UROS GJA8 SMC1A GTF2IRD2 GP1BB PCYT1A HSPG2 RP1L1 DYRK1A RNF125 GNAQ RETREG1 CHD4 COL7A1 VPS37D LZTR1 MT-TS2 MCOLN1 TACSTD2 FANCD2 KDSR SLC25A24 PROM1 KMT2E CRX PEX6 GTF2I HDAC8 B3GALT6 IARS2 INTS1 PRDM12 RAB3GAP1 ARL6 TAT ANKRD55 EBP EXOSC2 GPR143 DNAJC21 RSPO2 CCR1 MED25 ZNF469 SLC20A2 IDH3B ARL2 TCTN1 GALNS MAN2B1 APOA1 TP63 PYCR1 PEX10 SUMF1 GRIA4 COX7B MPV17 COL4A4 LBR ACTL6B TBL2 COL8A2 RFWD3 EP300 RGR PRPF31 OTUD5 RNU4ATAC ABCA1 TUBB TBX15 BPTF PRPH2 PEX16 PTPN23 UBR7 PORCN BBS1 GLRB COL1A2 RDH12 ADNP RPGRIP1L POMGNT2 HLA-DRB1 TGM1 TMEM67 SPINT2 REEP6 HPDL CNGB1 ARHGEF18 COL4A5 DNAJC30 SEMA4A MAB21L2 SALL1 BCORL1 KDM4B NAGA PSMD12 COL5A2 MMP2 PITX2 PCSK9 POLA1 OCRL GTF2H5 AGO2 TXNDC15 JAM2 FGFR1 RAD21 CHRDL1 SEC24C PXDN SOX2 NMNAT1 CRYBA4 JMJD1C MYO1H GJB4 ERCC5 WASF1 PDGFB CPLX1 SLC29A3 NIPBL KMT2D SLC25A4 MAK FANCA DPAGT1 SETD2 HLCS ABCA12 MIR184 CNOT3 KLHL7 TGFB2 SCARF2 TCF20 NLRP3 CREBBP SCN9A PIK3R1 ST14 MMP14 KAT8 B3GALNT2 KRT14 SOS2 TTC8 GNB5 CYP4V2 AGBL5 TBCK PEX2 MYORG USP9X TKFC PRPF6 FANCF KDM6A PRPF4 TBC1D20 PEX14 LDLR GMPPB ARVCF LETM1 FGD1 RP2 PRDM5 FAM161A RREB1 ERCC6 REV3L TRMT1 TRAPPC4 FBXW11 CLRN1 STS MADD NSD2 TENT5A MYT1L FOXL2 TFAP2A WDR73 MAFB GRHL2 TMEM231 GTF2IRD1 RAI1 NTNG1 FLII C1QBP PTPN2 MEFV PDE6A KLRC4 GDF6 TENM3 PRPF3 TRAPPC2 SLC12A2 DHDDS SLC16A12 CCDC28B NLRP1 CSPP1 EPHX2 ACTG1 APC2 TBC1D7 MBD5 WNT3 GATAD2B NR2E3 DGCR8 PDE6B RHO LIFR PRSS56 GLB1 XRCC2 CHMP1A BBS2 PLCB3 GATA1 RHOA WT1 COL18A1 ZMPSTE24 COL4A6 HK1 IL12A-AS1 DSE YY1 FANCC ZNF408 KIF1A RP1 RD3 LAMA3 CERKL PTPN22 SLC7A14 MAD2L2 PALS1 ABCA4 KDELR2 AP1B1 ALOX12B PEX11B SERPING1 MARK3 CLDN16 AGK TBX22 APOB KRT5 PRMT7 NCAPG2 LAT2 NRL WNK1 DGCR6 CDHR1 LRP5 ZNF513 ALG11 HARS1 LIMK1 FRAS1 BAZ1B CHD3 NR2F1 RNF2 POLR3A MERTK EBF3 CEP57 FIBP H1-4 LIPC NTNG2 BBS9 PPP1R17 DHCR7 PEX13 FLI1 PLK4 FLNA OPN1LW CD247 TEAD1 FKBP6 CRLF1 CLDN4 HTT TRIP13 FANCG MLXIPL PNPLA1 OPN1MW PIKFYVE MT-CYB TNRC6B TCTN2 ASAH1 COL9A3 UBIAD1 BRIP1 SMG8 FANCM PALB2 HP_MICROCORNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROCORNEA TBL1XR1 TMEM107 MAF LMX1B FOXL2 PXDN TFAP2A KIF11 HDAC8 B3GALT6 UBE3B MAFB BCOR POMT2 TMEM231 CRYBA4 MAPRE2 RAI1 FKRP DEAF1 RAB3GAP1 RECQL4 MPLKIP ERCC2 EBP CRYBB1 SC5D RAB23 FLII RAB3GAP2 TCTN3 GORAB BEST1 RSPO2 KRAS TENM3 MED25 RPGRIP1 ERCC8 TBX22 NIPBL KMT2D COL4A1 POMK RAB18 HMX1 CRYAA ARL2 DAG1 CTDP1 OTX2 CENPF ATOH7 TCTN1 ACTB CRYGC GJA1 LARGE1 BMP4 FKTN B9D2 CRPPA JAG1 PYCR1 ZEB2 SLC16A12 TBC1D20 NHS CSPP1 ACTG1 PITX2 ADAMTS18 GJA8 BRD4 TARS1 WNT3 PITX3 MIR184 RNF113A MKS1 PLOD1 SALL4 IQSEC2 PAX6 CRYGD CHST14 PRSS56 TMEM216 FGF3 B3GALNT2 TUBB TBX15 ERCC6 RBP4 HSPG2 GTF2E2 CRYBB2 CC2D2A SMC3 ERCC3 NAA10 FOXE3 CTCF SMC1A FLI1 POMGNT1 RPGRIP1L POMGNT2 PLK4 TMEM67 KDM6A DPYD B9D1 ANK1 POMT1 B3GLCT MAB21L2 TCTN2 FKBP14 RXYLT1 GTF2H5 FANCB TXNDC15 B4GAT1 CHN1 RAD21 HMGB3 TMEM237 CEP290 HP_ASTIGMATISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASTIGMATISM COL11A1 MYT1L KMT2E ZMIZ1 CCDC32 CC2D2A KIF11 GRHL2 INTS1 ARL6 OVOL2 NTNG1 C1QBP GPR143 DNAJC21 RERE WDFY3 MBTPS2 EMC1 PPP2R5D TUB ANKRD11 MAN2B1 SLX4 SLC12A2 TGFBI ZEB2 KMT2B CCDC28B VSX1 BLOC1S3 APC2 GRIA4 TBC1D7 CEP78 MBD5 MAG GATAD2B RNF113A ACTL6B KCNMA1 RFWD3 ARID1B CLDN19 ERCC4 COL17A1 COL9A1 OTUD5 RNU4ATAC HUWE1 XRCC2 PPP1R12A HS2ST1 CACNA1F CHMP1A BPTF MAP3K7 UBE3B PUS7 PTPN23 UBR7 LOXL3 BBS1 P4HTM GLRB COL1A2 ARCN1 STXBP1 ERCC3 RHOA ADNP COL4A1 ERCC2 HK1 DSE RLIM YY1 DPYD ACTL6A FANCC MAPK8IP3 TRIM37 HPDL UBE2T PIGQ CHST14 BCORL1 KDM4B RAD51 AEBP1 ARSG PSMD12 KCNV2 PITX2 WAC GTF2H5 AGO2 POGZ COL8A2 MAD2L2 PALS1 JARID2 CHRDL1 NEUROD2 FANCI USP9X MYO1H BRCA2 SMARCAL1 DYRK1A FANCE MPLKIP WASF1 DMPK SCUBE3 CLDN16 SHOC2 PIGT NSD1 PIEZO2 KRAS SLC39A8 SLC4A11 NIPBL PRMT7 VARS1 LMX1B KIDINS220 PACS2 GNPTAB TRIP12 SVBP FANCA DPAGT1 FBN1 TANC2 NFIX SETD2 MED27 COL9A2 FANCL TARS1 KAT6A MIR184 CNOT3 HARS1 TCF20 SETD5 CLDN11 ZEB1 TCF4 KAT8 FANCB CHD3 DPYSL5 RNF2 DDX6 MED13 AGBL5 POLR3GL EBF3 GTF2E2 FIBP H1-4 KDM5B NTNG2 GALNT2 BBS9 DOCK3 CHST6 TBCE FLNA FANCF ARHGEF2 TEAD1 CHD4 HTT FANCG TNRC6B MT-TS2 TYR TRMT1 COL9A3 EDEM3 BRCA1 TRAPPC4 BRIP1 FANCD2 SATB1 FBXW11 SMG8 FANCM CLRN1 PALB2 SLC25A24 MADD RAD51C HP_MEGALOCORNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEGALOCORNEA CHRDL1 NSD2 PIK3R1 BAZ1B POMT1 GTF2I FGFR2 COL11A1 CTBP1 GNPTAB GTF2IRD1 TINF2 KCNMA1 LTBP2 CLIP2 ABHD11 MAF POMK CPLX1 FKTN ELN SH3PXD2B GTF2IRD2 FKRP EIF4H PPP2CA LAT2 STX1A NCF1 KIFBP RFC2 GMPPB FKBP6 NELFA LETM1 CDH11 CLDN4 DNAJC30 VPS37D POMGNT1 FGD1 MLXIPL PITX2 MT-CYB PRDM5 TEK POMT2 BUD23 TMEM270 METTL27 BCL7B FBN1 TBL2 LARGE1 LIMK1 CLDN3 PIGG HP_RETINOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINOPATHY NSD2 SHH HBB ENPP1 ERCC5 PRTN3 SIX3 COL11A1 UBAC2 HLA-DPA1 IL23R MCOLN1 ALDH3A2 KIF11 FGFR1 DPM1 CSPP1 AGXT PTCH1 C1QTNF5 STIL MT-ATP6 MT-TK ALG8 KCNJ11 CPLX1 GLI2 MEFV TRIM32 TMEM107 CCR1 KLRC4 GCK CDKN2B AP5Z1 C4A IDS ZIC2 TXN2 CEL ERCC2 PHYH FAS CTNS NEUROD1 GNPTAB CREBBP KRAS NELFA HLA-B HNF4A MGMT NOD2 SCO2 CDK4 PDX1 IL12B IDUA STAT3 TULP1 INS ATG7 HADHA TLR4 MLX ERCC3 KLF11 BAP1 TUBB MIA3 CTBP1 IL10 BLK APPL1 PEX7 IL12A POT1 MT-TL1 CEP41 MTTP TERF2IP PAX4 CDH3 NDUFS2 ABCC6 MITF ABCC8 DISP1 HNF1A STAT4 MYO5A FGF8 NEU1 IL12A-AS1 NDUFAF3 PLK4 PANK2 PTPN22 PROS1 MC1R HLA-DPB1 INSR TERT LETM1 MT-TE CDKN2A BLM NDUFB8 SURF1 NDUFAF1 ERAP1 TNFRSF11B ACD SAR1B MAPRE2 APOE TMEM231 MFSD8 CTLA4 TINF2 PIGG ERCC4 HP_DEEPLY_SET_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEEPLY_SET_EYE FIBP HMGA2 CNOT3 SIX3 DIS3L2 IARS2 MAFB SH3PXD2B AHDC1 POLR3A PUS7 KNSTRN GATAD2B RAI1 DEAF1 FGFR1 HYLS1 RTL1 SPEN PIK3CA SLC9A6 BBS7 STIL EXOSC2 FLII GATA4 SPOP NDP GLI2 PLEC MMP23B FOXF1 NGF EMC1 ERCC8 NTRK1 DCPS ZIC2 RAB3GAP1 SPTBN1 CENPF ABL1 TBCK TPRKB ZEB2 AGL SIN3A STAG1 WASF1 UBE2A GORAB ATAD3A CDKL5 EEF1A2 FBXO31 TMEM67 SHANK3 TCF20 GJA1 PYCR1 SSR4 KIF7 MEIS2 NF1 SNRPN FBXO11 FARSB HECW2 LARP7 PPP2R5D SATB2 HDAC4 GRIA3 CARS1 RERE PRKCZ FARSA TTI2 ZBTB20 SON KCNK4 HHAT SHH NALCN NFIX PAK3 ALMS1 STIM1 CTCF MEG3 TOGARAM1 MAPK8IP3 LUZP1 CACNA1G GJA5 COL5A1 MED12L HDAC8 TAFAZZIN CRB1 OSGEP HUWE1 ERCC2 CREBBP PHF6 TAF1 COL3A1 MSL3 RARS2 DYRK1A HS6ST2 DISP1 CDH2 CRKL SRCAP UGDH FMR1 BCR PRMT7 PSMD12 FGF8 WAC OCRL SETD1A ARNT2 SEPTIN9 OPHN1 CHN1 POC1A EPB41L1 BRCC3 TBL1XR1 ZPR1 BICRA ALKBH8 SLC9A7 SMAD4 COX5A KMT2E PAK1 MEF2C PRPS1 THOC6 PGAP1 KDM5C AP1S2 NOVA2 GSC DHPS MYH3 ERCC4 PIEZO2 TBCE SLC35A1 KCNAB2 KIDINS220 GJA8 CTBP1 JAG1 ASXL3 TMEM94 FBN1 UBE4B TBCD BPTF CRPPA LAS1L AGO2 SMC1A DNM1L KAT6A MAPK1 COX8A DPYD ANKRD17 SALL4 PIK3CD ORAI1 ERCC6 IQSEC2 SKI ATN1 TRRAP PIGY PIK3R1 COA3 ODC1 TCF4 STAT3 IGF1R PIGU RNF2 SYNGAP1 HSPG2 SRC UBE3A TBX15 EBF3 GPKOW XRCC4 POU1F1 CASZ1 CAMTA1 PRDM16 DPYSL5 PUF60 RALGAPA1 HACE1 YARS1 ZC4H2 TMEM237 LEMD3 EXTL3 ERCC1 TBC1D20 PRKDC EIF5A CEP57 EP300 EDEM3 PLP1 GABRD PDPN DLK1 HP_KERATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KERATITIS CERS3 IARS2 NTRK1 UBAC2 ALOX12B UROS SLC35C1 IL23R SREBF1 GJB6 ERCC5 WAS MPLKIP ERCC2 MBTPS2 GJB2 MEFV CCR1 KLRC4 ZEB1 ERCC8 C4A FGFR2 FAS BTNL2 PLEC TP63 HLA-B NIPAL4 NLRP1 NOD2 HLCS FGFR3 TARS1 ABCA12 LBR RNF113A IL6ST DDB2 TLR4 NLRP3 SCN9A COL17A1 POLH FGF10 EPCAM CLTCL1 IL10 ERCC6 IL12A WIPF1 IKBKG GTF2E2 GATA1 ERCC3 XPA STAT4 MAB21L1 PAX6 COL4A6 IL12A-AS1 HLA-DRB1 TGM1 FBN1 ERCC4 RNF125 MTTP CRLF1 XPC AIRE COL4A5 GSN UROD PNPLA1 ERAP1 AEBP1 GTF2H5 ALOXE3 HP_ABNORMAL_EYELID_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EYELID_MORPHOLOGY RNU4ATAC COL1A1 CCDC32 SATB1 PIGA COLEC10 BUB1B TENT5A ALX3 FAT4 CACNA1A KMT2D DPM1 VPS51 KANSL1 ABHD5 TCTN3 RERE WDFY3 MBTPS2 SMAD4 DOLK PHC1 EGFR CENPJ SMOC1 KAT5 METTL5 PYCR2 ANKRD11 CBL SPEN MAP2K1 KRAS MAP1B KREMEN1 ZEB2 NEXMIF GJB2 SIN3A PEX12 SOS2 SAMHD1 CSGALNACT1 NXN EDARADD KCNMA1 SOS1 GABRB2 MAP2K2 NTRK2 CHST14 MIR140 SREBF1 RAC3 NGLY1 TRAK1 HUWE1 FIG4 TP63 NRAS GATA2 ITGB4 KCNJ2 PRKCZ PARN SYP TRAPPC14 KANK2 PEX5 SALL4 DLG3 RSPRY1 PDHX VAC14 HNRNPU ZSWIM6 EFTUD2 MEG3 DOCK7 MED12 PEX7 EHMT1 MAPK8IP3 ERCC2 PQBP1 GLIS3 LMNA RPS29 MED13 RPS10 PTCH1 NCF1 CREBBP CERT1 FOXL2 DSG4 ATRX SUFU EDN3 ZIC2 UROD HNRNPK DPH1 UGDH YWHAE GBA SMARCA2 NF1 ALOXE3 RPS24 UBA5 CHN1 NAA10 CHUK CNKSR2 JARID2 TBL1XR1 DNM1 BICRA ARID2 SNAP29 PREPL DONSON PDE4D MAPRE2 ZMIZ1 SLC2A10 DCHS1 C12orf57 CEP152 COG1 PGAP1 FBXL4 WDR35 PGAP2 GDF11 SRCAP KIAA1109 GSC SHOC2 ELN ARID1B RPS6KA3 SOX10 EIF4H ABCA12 PACS1 LIPH MAGEL2 CDH11 CYFIP2 TOR1A MED27 BRD4 APOE AARS1 SCN3A GJC2 FBN1 DHX16 HIRA AFF4 DLK1 CDK5RAP2 GLI2 DACT1 PPP1CB CLDN3 HNRNPH2 ATN1 TBX1 SETD5 ATP6V1A ODC1 RBPJ TBX4 HSPG2 TBCD TCF4 WWOX SDCCAG8 KAT6B SNRPE FERMT1 ZMPSTE24 DISP1 RALA CASK KCNN3 USP9X STAG1 NDN PWAR1 QRICH1 RPL26 ADAT3 ATP6V1E1 ARHGEF2 CANT1 POLR1C CCND2 FGF10 PPP3CA SEC24D TOE1 CLDN1 VPS13B G6PC1 EIF5A CEP57 FGFR3 TMEM270 EXOC8 MITF MN1 RAF1 PAX3 RAD51C RPS28 SMPD4 CERS3 KIF11 BUB3 RIT1 RPL18 DNMT3B SLC25A24 ABCC9 DOK7 ZIC1 ATRIP BBS12 SOX18 ESS2 NFIX CLCN4 ZNF81 NSDHL TCOF1 FGD1 SLX4 ATP6V0A2 ALX1 TBCK RAC1 MID1 HPDL ADAMTS18 PRKAR1A SNAI2 IFT43 BBS5 PAK3 MASP1 EED RNF113A METTL27 PIGL TRAPPC9 SLC6A9 CUL4B MUSK TSR2 PPP1R12A HS2ST1 PPP1R15B HCN1 ZC4H2 MAP3K7 CWC27 UBE3B PUS7 SASS6 COLEC11 PTEN TUBGCP4 ANKH SLC39A4 PDE6D XPA SPECC1L SLC37A4 SUZ12 PRRX1 TFAP2A WDR19 GJA1 ADAM17 RLIM KDM4B FLNB RFC2 AP3B1 PIGW UBE2T B3GLCT HS6ST2 SLC3A1 FGF13 OCA2 KCNA2 DDB2 CRKL FOXP1 IFT172 CTNND1 HRURF IFT122 BCORL1 PEX3 CPLANE1 ORC6 DDX6 PIGG TGFB3 COG7 SLC35C1 KCNB1 KMT2E ARHGEF6 HLA-B CLIP2 EBP RMRP KCNE5 ZBTB24 MAFB PIGT LETM1 PIEZO2 MFSD2A SMARCE1 KRT86 DDHD2 CENPT TMEM216 TRIP12 WDPCP EP300 RPS19 SLC35A2 CACNA1B DNMT3A SMARCA4 FANCL EXOC2 SMC1A MAPK1 KAT6A OFD1 POLH PIGY TMEM107 RPL11 XYLT1 TRAF3IP2 CLTCL1 DHDDS DPYSL5 ATAD3A WIPF1 KNL1 BMP2 ALG9 IL1RAPL1 TYRP1 SYNGAP1 SMC3 KIF1A LZTR1 GALNT2 FGF12 FGF8 SOX4 TAPT1 TBX6 GP1BB PEX19 GNE STAC3 SKI FGFR2 TTC8 BRAT1 COL11A1 TCF3 CIT BLM NUS1 MECP2 CTDP1 AP3B2 TWIST1 PCNT NARS1 SZT2 GPC6 HBB RPL21 FANCD2 CCDC88A BGN LMNB1 EXOSC1 RTL1 GTF2I KCNJ8 MYH3 KCNH1 PEX1 INTS1 SLC45A1 MYCN AMMECR1 AP4E1 MEF2C TERT RBBP8 EXOSC2 SPOP DDB1 DNAJC21 BPTF SYNJ1 MCTP2 FREM2 C2CD3 MED25 ZNF469 SPTBN1 TXNL4A BANF1 RAB18 FRMPD4 CDH1 PTCHD1 WASF1 LSS MGAT2 NUP188 CLTC CHAMP1 GPC4 RFWD3 PLCD1 PYCR1 LRP4 FBXO11 GABRA2 OTUD5 ERF EDAR TUBB SATB2 PEX16 PTPN23 SMS RPS20 SMARCC2 WDR4 DKC1 IGBP1 MADD RET PIGN UNC80 ADNP DVL3 CACNA1G SOX6 TGM1 IRF6 KIAA0586 CLP1 ZBTB18 COL3A1 DNAJC30 CTLA4 MAB21L2 SALL1 CDH2 CEP55 HDAC4 ADH5 PSMD12 HELLS ACTL6B CHD7 ANTXR1 EPS8L3 DMD AGO2 PTPN11 TYR FGFR1 RECQL4 SEC24C SHH LZTFL1 SLC9A7 RPL27 POLR1D CAMK2G RPS23 GMNN ANAPC1 ARL3 SOX11 AXIN2 PURA ORC1 TLK2 ACTG1 RAB39B DENND5A AKT3 ALG13 FLNA STAG2 FANCA BRAF HERC1 LRRC8A DHCR7 UBE4B RUSC2 CDCA7 PLK4 PTPN22 CEP63 SCARF2 TCF20 SOX5 MYOD1 PUS1 ETFDH IQSEC2 ST14 KAT8 LRP2 AP1S1 GPRASP2 GTF2E2 GPKOW RAPSN PEX2 SIAH1 ZNF462 KATNB1 ALX4 FANCF ERCC1 CHRNA1 PIK3R2 KRT74 WAC TBR1 TBC1D24 ZNF292 XRCC4 ARVCF TAF6 KIAA0753 NCAPD3 COX7B P4HB FZD2 TRAPPC4 BBS2 DSC3 FIBP PLEC PSPH CNOT3 DLX4 CHRNA7 CCNQ GTF2IRD1 KNSTRN KIF7 SPINK5 ZNHIT3 ALDH1A3 SLC6A17 NTNG1 TRIO FLII GATA4 RPL35 TERC TWIST2 TENM3 TRMT10A RPL35A LONP1 MKS1 DYNC2I1 BCOR SLC12A2 SNRPN KPTN NDUFB11 WNT5A LDHD GABRG2 EPHX2 ADAMTSL2 DYNC2I2 PSAT1 ETFA ACSL4 DOCK3 TMCO1 SMCHD1 XRCC2 TBX2 FRMD4A MYMK SETD1B AMER1 GATA1 NOP10 PCLO ATR ALDH6A1 ERCC6 SOX9 ADAMTS3 CTNND2 HK1 MED13L CHRND DSE NONO COL5A1 YY1 HDAC8 CD28 PEX6 FANCC PDGFRB MSL3 APC PAH GJB6 EDNRB SMARCD1 FLCN MKKS MAD2L2 RB1 LIFR ALOX12B SEMA3E RDH11 FOXC1 COPB2 COL5A2 NIPAL4 DYNC2LI1 ITGA6 TBX22 APOB MAN2B1 ALG3 LAT2 NBN POLR1B SCN4A MINPP1 TNNI2 TUBGCP2 RPS7 TSPEAR DGCR6 TRPS1 TSPAN7 DPYD LIMK1 FRAS1 BCL11B PHOX2B CHD3 DPF2 RNF2 CCBE1 ADAMTS2 LIG4 KIT C12orf4 PPP1R17 USB1 FLI1 KRT25 ALG12 MOGS PAFAH1B1 DDX11 LPAR6 VPS35L CARD14 NSD1 RASA2 NPAP1 FANCG PNPLA1 HCFC1 CTU2 BRIP1 GABRD SNORD115-1 FANCM PALB2 ATP7A A2ML1 DIS3L2 SH3PXD2B HERC2 GATAD2B BBS1 BMPER TUBGCP6 RAB23 TAF13 TNRC6B RIPK4 PPP2R5D LPL CDK19 DHCR24 RHOBTB2 SLC13A5 QARS1 LRP1 CDK13 KCNK9 IFIH1 AKT1 COG8 SC5D EZH2 PLXND1 TUBB3 RPS27 ATP6V1B2 DYNC2H1 ERCC4 GRIP1 BBS9 CTBP1 NOTCH3 ACTB SLC19A3 OTUD6B SLC1A2 NALCN KRT83 SCAPER STXBP1 NANS ZNF699 CEP290 CTCF ROR2 GPC3 PHIP MTOR YARS2 OSGEP FDFT1 APCDD1 KIF15 BRCA1 PITX1 PIK3C2A CD79A RRAS2 FLT4 DHODH DSP CD96 UBE2A BCL7B GREB1L CNOT1 FTSJ1 ARID1A ZNF711 MID2 PPP1R21 B3GAT3 BUB1 COMT PIGB COX5A RAB3GAP2 ALG2 DVL1 BRCA2 IGLL1 MPLKIP PTCH2 CYP27A1 CDK10 LMX1B HRAS GHR MPC1 USP27X POLR1A PACS2 JAG1 SVBP RRAS TANC2 PPP2R1A CCDC115 TARS1 BUD23 FGF5 HHAT SNORD116-1 SLC39A13 EEF1A2 PMM2 FANCB IGF1R SIM1 PHGDH TBX15 POLR3GL CAMTA1 PWRN1 KDM5B AUTS2 PIGO ETFB ERMARD MAB21L1 PHF6 CFAP418 MKRN3 GLE1 AHDC1 GRIN2D KIFBP COL1A2 XPC MRPL12 EDEM3 TRIM32 PGAP3 CEP19 SMARCB1 PDPN CHD1 KMT2C NDUFS4 RPL10 STRA6 HIBCH POLR3A POR DEAF1 PHF21A ESCO2 KMT2A CHRNG CAMK2A PEX26 ZNF41 APOA2 RTTN NPHP1 KDM1A PPP2CA HOXB1 TELO2 CHST3 NELFA TPRKB IFT80 NCDN FOXC2 RNF135 B4GALT7 BBS7 PIEZO1 ARX EFEMP2 ALDOA SIX3 CELF2 HECW2 INPP5E TRAIP ZBTB20 SON AHI1 UMPS MVK DOCK6 NEK1 ASPM ERCC3 CDC42 EDA LUZP1 VAMP1 RPS26 ACTL6A ARV1 WNT10A ANK1 KCNJ5 IKZF1 TAF1 PIGQ SLC26A2 CCNK RAD51 NOTCH2 HR PGM3 FRG1 RAB11B ZPR1 RNASEH2C HCCS ITGA3 DMXL2 THOC6 WAS FANCE ABHD11 RNASEH2A CKAP2L MEGF8 DGCR2 KDM6A NHP2 ACOX1 RAX SYT1 LMBRD1 FANCI VARS1 CAMKMT CEP135 STX1A CCDC22 DDR2 GABRA5 MLPH MRAS UQCC2 SNRPB ASXL1 ANKRD17 SETD2 SETBP1 STEEP1 RIN2 GNPTAB SCN8A VPS33A UFD1 MAF YWHAG IGHM IFT57 WRAP53 FREM1 UROS CSPP1 GTF2IRD2 TMEM237 CDH3 DUX4 DYRK1A RNF125 CHD8 CHD4 VPS37D BRF1 KCTD1 FOXG1 SNX14 PTH1R WNT7A EXT2 ANKLE2 ADA2 POU3F3 ARL6 MAN1B1 GPR101 MMP23B SF3B4 CRIPT UBR7 DHX30 FAM20C PEX10 WDR37 NECTIN1 EFNB1 AIP GRIA4 CENPE B9D2 MC1R TBL2 MCPH1 SHANK3 MEIS2 ABCA1 LARP7 KCNK4 VEGFC SMO FGFRL1 CPLX1 MED12L COL18A1 RAI1 TINF2 PUF60 GSN MYLPF BCR MPDZ BBIP1 ADAR PCSK9 KIF14 OCRL GTF2H5 HIC1 TASP1 SETD1A WDR62 SEPTIN9 IFT52 DYNC1I2 SHROOM4 RAD21 LTBP3 JMJD1C ERCC5 CNTNAP1 DYNC1H1 GDI1 NOVA2 TRAF7 NECTIN4 SLC29A3 TREX1 KDM5C EIF2AK3 NIPBL RYR1 GLI3 PBX1 SEC31A NSUN2 FHL1 RPL15 FBLN5 SULT2B1 PARS2 STIL EDNRA ITGA8 PLOD1 TGFB2 PIK3CD TFAP2B PIK3R1 PIGU PHF8 HOXC13 KRT85 RPL31 UPF3B LIPN RBM10 TONSL PEX14 LDLR CYP4F22 CTC1 SRY AFF2 COPB1 TRMT1 COL11A2 SH3BP2 RREB1 REV3L CSNK2A1 WASHC5 BBS4 RPS17 FBXW11 KIF21A RBMX NSD2 GAD1 MYT1L RPS15A WDR73 PIK3CA EXOSC9 SDR9C7 PIGV ALG14 IFT27 FAS AGTR2 ADARB1 APC2 NECAP1 CNOT2 BRPF1 DGCR8 NUAK2 IFT74 CDK6 PITX2 ZNF148 GRIA3 ABAT FGF20 ABCA5 RPL5 PKDCC NFIB TNFRSF1B RNASEH2B RHOA ASPH AFF3 COG6 HBA2 FAM149B1 POLA1 NPM1 SEMA5A GTPBP2 PALS1 AMPD2 AMACR PEX11B FGF3 TTC37 TTPA PCGF2 SLC17A5 CD79B BMP1 PRMT7 SIX2 NCAPG2 KCNAB2 PNPLA6 ASXL3 SPRED1 MSMO1 MLXIPL KITLG BCL11A NBAS TRRAP KDM6B BAZ1B COA3 HSD17B4 KRT81 BLNK NR2F1 UGP2 PPM1B EBF3 RTEL1 SPART CASZ1 H1-4 PRDM16 NTNG2 HBA1 JUP VPS53 PEX13 YARS1 BMPR1A CST6 FKBP6 CLDN4 HTT TRIP13 DALRD3 KLF13 UBE3A RIC1 BBS10 HP_ABNORMAL_FOVEAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FOVEAL_MORPHOLOGY PAX6 CACNA1F RLBP1 PDE6H CFHR1 UGP2 RBP4 GDF3 IKBKG SLC45A2 CNGA3 APOE HMCN1 CNGB3 IDS TYR HPS5 RAB28 WT1 SLC38A8 CFAP418 PRPH2 RDH5 PDE6C RPGR GPR143 ABCA4 ELOVL4 BLOC1S3 OCA2 GDF6 GNAT2 RHO ATF6 IMPG1 CFHR3 HPS4 MC1R BLOC1S5 NEU1 PROM1 MFRP HPS6 DCT SLC24A5 CTNNA1 HP_DOWNSLANTED_PALPEBRAL_FISSURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DOWNSLANTED_PALPEBRAL_FISSURES ATR ATP7A A2ML1 KMT2E CCDC32 RNU4ATAC SATB1 SATB2 BUB1B SH3PXD2B MYH3 CACNA1A KRAS FBN1 PUS7 BBS1 ARL6 SLC45A1 DPM1 MAP2K2 AMMECR1 AP4E1 HNRNPK MAN1B1 RBBP8 APC CHD1 SPOP TNRC6B SF3B4 DNAJC21 SYNJ1 WDFY3 OTUD6B MED25 PPP2R5D UBR7 SLC9A7 RPS6KA3 CDK19 DHCR24 SMOC1 KAT5 SLC13A5 BRAF NAA10 FAM20C CBL MAP2K1 FRMPD4 NEXMIF PTCHD1 SIN3A SOS2 EFNB1 AKT1 ARX GRIA4 MGAT2 CENPE SC5D EZH2 CNKSR2 CLTC CSGALNACT1 NXN ACTL6B KCNMA1 GPC4 TUBB3 SOS1 GABRB2 EP300 PYCR1 LRP4 NTRK2 CHST14 CWC27 NF1 FBXO11 GABRA2 OTUD5 TRAK1 HUWE1 NRAS BBS9 CTBP1 NOTCH3 COG1 FGFR2 BPTF IGBP1 SLC19A3 PTPN23 SLC1A2 SYP NALCN DLG3 COLEC10 DVL1 SCAPER PPP1CB CEP290 ROR2 GPC3 UNC80 MED12 MTOR MED12L OSGEP ATP6V0A2 RAI1 CREBBP HPDL KIF15 TAF1 PITX1 DPH1 PPP2R1A BCORL1 CDH2 RRAS2 KDM4B YWHAE ATP6V1A PSMD12 DHODH MPDZ BBIP1 FLNA DMD PTEN AGO2 AUTS2 TASP1 SETD1A COL11A1 UBA5 ACSL4 ZNF711 ADNP JARID2 SEC24C TBX1 MID2 DNM1 PURA LZTFL1 PTPN11 BICRA SPECC1L RERE SNAP29 B3GAT3 POLR1D BUB1 COMT GMNN RAB3GAP2 MAPRE2 ZMIZ1 ALG2 JMJD1C SLC2A10 CEP152 WASF1 FBXL4 PTCH1 RAB39B DYNC1H1 CDK10 CPLX1 NSD1 GDI1 NOVA2 GSC SHOC2 NOTCH2 ALG13 RAF1 PACS1 RIN2 MECP2 HRAS VPS13B GLI3 USP27X POLR1A PACS2 ATP6V1B2 ZBTB20 SVBP RRAS SMARCA2 CDH11 CYFIP2 AFF4 HERC1 FHL1 TANC2 SETD2 MED27 PARS2 CCDC115 POLR1B AARS1 CCDC22 SCN3A PLK4 CNOT3 PLOD1 HIRA TGFB2 SLC39A13 TCF20 TFAP2B SOX5 EEF1A2 MYOD1 SETD5 IQSEC2 KAT8 ODC1 LRP2 MYMK STXBP1 WWOX SDCCAG8 KAT6B KMT2A SMC1A RAPSN KDM5B DPYSL5 UPF3B SIAH1 CASK KDM1A ZNF462 USP9X KCNN3 SLC29A3 CFAP418 DOCK3 SKI ATP6V1E1 CLCN4 ARHGEF2 GLE1 AHDC1 POLR1C WAC TBR1 GRIN2D KIFBP FGF10 PPP3CA CHRNG ARVCF LETM1 SEC24D KCNH1 FGD1 COL11A2 NECTIN1 RREB1 EIF5A P4HB CEP57 FZD2 LZTR1 TRMT1 FGFR3 WASHC5 EDEM3 BBS4 TRAPPC4 BBS2 TRIM32 MN1 FBXW11 CEP19 PAX3 MADD NSD2 FIBP GAD1 MYT1L SMPD4 KIF11 RPS28 BUB3 PIK3CA RIT1 BMP2 CHRNA7 POLR3A POR KIF7 SLC25A24 ESCO2 SPEN MVK DOK7 OFD1 NTNG1 TRIO ZIC1 ATRIP GATA4 BBS12 CAMTA1 CAMK2A ZNF41 TRMT10A NFIX IFT27 MKS1 NPHP1 ZNF81 ACTB TCOF1 CHST3 NELFA SLC12A2 KPTN KCNA2 WNT5A AGTR2 LDHD GABRG2 ACTG1 APC2 BBS5 RNF135 FTSJ1 PAK3 BBS7 NECAP1 EED TMCO1 ARID2 BRPF1 MAPK1 RECQL4 ARID1B IFT74 CELF2 CHD7 CUL4B ZNF148 CDC42 TSR2 HS2ST1 PPP1R15B HCN1 MAP3K7 ABAT FGFR1 TRAIP ABCA5 MAF PCNT SON SETD1B COLEC11 UMPS PKDCC NFIB SUZ12 ALDH6A1 CTNND2 PRRX1 ZMPSTE24 DSE NONO GJA1 COL5A1 ASPH RLIM YY1 DPYD ACTL6A ARV1 MAPK8IP3 PDGFRB HBA2 MSL3 HS6ST2 EBP FGF13 SZT2 FOXP1 IFT172 FLCN PEX3 ORC6 MKKS SEMA5A ZEB2 PIGG TGFB3 PALS1 C12orf57 AP3B2 AMPD2 KCNB1 SEMA3E RDH11 ARHGEF6 FGF3 TTC37 DMXL2 KCNE5 EFTUD2 CKAP2L DYNC2LI1 CENPT STAC3 GABRA5 TRIP12 MRAS WDPCP ASXL3 SPRED1 CACNA1B MASP1 TNNI2 TSPEAR TSPAN7 BCL11A TWIST2 PYCR2 SETBP1 DHDDS PHOX2B STEEP1 DPF2 SCN8A ADAMTS2 DDX6 DVL3 UFD1 MED13 EBF3 IL1RAPL1 YWHAG SPART SYNGAP1 NTNG2 GALNT2 HBA1 FGF12 DHCR7 CENPJ ZSWIM6 FLI1 GP1BB TMEM237 PAFAH1B1 BMPR1A TTC8 RPS19 VPS35L CHD8 LMNA RASA2 HTT TRIP13 NUS1 HCFC1 DALRD3 EFEMP2 FOXG1 UBE3A BGN BBS10 HP_RECURRENT_CORNEAL_EROSIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_CORNEAL_EROSIONS FGFR3 TGFBI CHST6 MPV17 GJB2 CTNS FGF10 NTRK1 ELP1 FGFR2 MBTPS2 FOXC2 KRT3 COL17A1 HP_BLEPHARITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLEPHARITIS SREBF1 ST14 TRAF3IP2 HDAC8 TP63 UROS TBX4 WIPF1 ERCC5 PARN WAS TERT RTEL1 MBTPS2 DKC1 GATA1 ERCC3 NOP10 SMC3 SLC39A4 PIGN XPA WRAP53 TERC USB1 SMC1A ADAM17 NHP2 TINF2 ERCC4 CST6 ERCC2 XPC CTC1 EGFR UROD NPM1 GJB6 MSMO1 DDB2 BRD4 APOE PLXND1 REV3L NIPBL PLCD1 RAD21 HP_ABNORMAL_EYELASH_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EYELASH_MORPHOLOGY NXN RNU4ATAC GJB6 LMNB1 HDAC8 DLX4 EPS8L3 TENT5A KCNJ8 UROS KRAS POLR3A KIF11 KMT2D VPS51 SPINK5 TUBGCP6 SPEN CDH1 TERT ROR2 KMT2A SPOP DDB1 DNMT3B DSG4 SF3B4 SLC3A1 SOX18 TERC EDNRB MBTPS2 TWIST2 OTUD6B DOLK EGFR BRAF NHP2 NAA10 SMC3 BANF1 TCOF1 ALX1 KREMEN1 FAS LRP1 NDUFB11 WNT5A GJB2 KCNK9 NECTIN1 TP63 HPDL LSS MGAT2 FOXC2 SNAI2 RPL21 PSAT1 B4GALT7 DPF2 CNOT2 MC1R EDARADD NIPBL SHANK3 EP300 ATP6V1B2 ARID1B MADD PLCD1 SMCHD1 MAP2K2 SLC6A9 LMNA SMARCB1 CWC27 FBXO11 RAC3 EDAR TSR2 FIG4 SOX10 FRMD4A TMCO1 MAN1B1 SMARCC2 HSPG2 PARN KCNK4 TUBGCP4 KANK2 KRT83 DVL1 DKC1 GATA1 NOP10 VAC14 ZNF699 CTCF ZMPSTE24 DOCK7 DVL3 YARS2 EDA SMARCA2 GJA1 APCDD1 DPYD CREBBP TINF2 CLP1 SNRPE WNT10A EDN3 TAF1 COL3A1 BRCA1 EBP UROD PUS1 OCA2 NPM1 MAB21L2 DPH1 CTNND1 SMARCD1 FBN1 HRURF DSP NOTCH2 ANTXR1 NF1 HR GTPBP2 MITF ARID1A FRG1 FGFR1 RAD21 LTBP3 RECQL4 SOX4 BICRA ARID2 POLR1D RPS23 COX5A SLC35C1 ANAPC1 CLDN1 HCCS SOX11 ITGA3 AXIN2 ORC1 LPAR6 WDR35 SRCAP NECTIN4 SHOC2 KDM6A DENND5A SMARCE1 KRT86 BMP1 VARS1 CAMKMT STAG2 PACS1 LIPH SEC31A MLPH ABCC9 PNPLA6 ASXL3 PREPL AFF4 POLR1B SMARCA4 RUSC2 BRD4 FGF5 EDNRA TRPS1 RIPK4 PTPN22 MPLKIP FRAS1 MOGS ODC1 XYLT1 KRT81 RNF2 TBX4 MED27 PHGDH HOXC13 VPS33A KRT85 PPM1B ALX4 MAF TYRP1 RTEL1 MAP2K1 KCNN3 SMC1A KIT SLC25A24 WRAP53 JUP DHCR7 PUF60 COL11A1 USB1 MAB21L1 KRT25 STAG1 CDH3 ARHGEF2 DUX4 CANT1 POLR1C KRT74 KCNH1 CST6 CTC1 TAF6 BLM PLK4 CTDP1 COX7B VPS13B AP3B2 PAX3 FZD2 RMRP EXOC8 DSC3 HP_GLAUCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLAUCOMA ANKLE2 PROM1 PEX6 GTF2I HDAC8 B3GALT6 NF1 BUB1B MAFA ADA2 PCARE SUFU AGK ARL6 RBBP8 ANKRD55 EXOSC2 NDP OFD1 FREM2 IDUA OVOL2 IDH3B GATA1 DAG1 CRYAA PEX3 NTF4 CYP1B1 ZNF469 PEX10 ACVR1 PEX12 VSX1 IFIH1 OCRL RS1 SAMHD1 CENPE ADAMTS10 TBL2 RPS27 KIAA1549 IDH3A EP300 PYCR1 SAG CHST14 RGR PAX6 PRPF31 AKT1 IL2RB CRX PRPH2 PEX16 IMPG2 TOPORS RPS20 GUCA1B BBS1 IFT88 ZSWIM6 ARSB FKRP POMGNT2 NOD2 YARS2 GLIS3 FOXC1 COL2A1 HLA-DRB1 RPS29 RPS10 PTCH1 NCF1 REEP6 SPATA7 RPL26 CNGB1 ARHGEF18 COL3A1 DNAJC30 GSN SEMA4A PIK3C2A PEX19 OPTN TREX1 PRPS1 ANTXR1 ADAR FBN1 BCL7B PRSS56 WFS1 VCAN RPS24 B4GAT1 RAD21 ROM1 CHRDL1 SEC24C LMX1B PXDN B3GAT3 RPL27 BUB1 COMT ARL3 POLG2 JMJD1C FOXE3 GJB4 POMT1 RECQL4 FAT4 PTCH2 USH2A ELN PDE6G SLC25A4 EIF4H COL4A1 CRB1 TULP1 MAK GJA1 CRPPA CDH11 RPL15 NHS TEK CNGA1 FSCN2 BRD4 CANT1 BUD23 DHX38 CCDC22 PLK4 PTPN22 PLOD1 CISD2 TGFB1 HIRA KLHL7 CLDN3 ADAMTSL1 CREBBP PUS1 FGF10 TBX1 PIK3R1 ZEB1 B3GALNT2 KIZ TTC8 RLBP1 RPE65 RPL31 FKTN PEX2 NAA10 SLC4A4 MAB21L1 POMGNT1 LTBP2 TKFC PRPF6 RDH12 CFAP418 TUB PRPF4 TBC1D20 PEX14 ARVCF B3GLCT SRY RP2 TRIM44 POMT2 COX7B GNAQ RBP3 FAM161A RREB1 WASHC5 TMEM270 RXYLT1 RPS17 TENT5A RPS28 ZMIZ1 PITX2 RPS15A BUB3 NLRP3 BCOR GRHL2 WT1 CA4 GTF2IRD1 ARL2BP KIF11 RPL18 PEX1 ATRIP PTPN2 CRYBA2 PDE6A BEST1 RPL35 PEX26 RPL35A IL2RA POMK YAP1 EYS ATOH7 LARGE1 PRPF3 CHST3 DHDDS FAS NDUFB11 CCDC28B TSR2 PRCD LOXL1 IMPDH1 FGFR3 MASP1 RPGR TIMP3 METTL27 NIPBL CBS NR2E3 PDE6B RHO GJB3 FLNA TRAIP PEX5 MYMK PCNT BBS2 RPL5 PTEN SBF2 RNASEH2B ATR RHOA FGFR2 MAG COL18A1 ADAMTS3 SH3PXD2B RP9 DSE RPS26 RFC2 ZNF408 ASB10 SCAPER RP1 GMPPB TTC37 RRM2B EBP STAT4 CERKL AGBL5 COL11A1 COL8A2 SLC7A14 ABCA4 KDELR2 RNASEH2C WDR36 PEX11B HCCS CLIP2 MYOC ABHD11 LRAT ADAMTS17 CRYBB3 RNASEH2A FAM50A IFT172 BDNF CLN3 FUT8 CCBE1 NCAPG2 LAT2 MBTPS2 STX1A MFRP PRPF8 HGSNAT BTNL2 CEP152 NRL IFT140 RPS19 AHI1 RPS7 GZF1 CDHR1 LRP5 DDX58 ZNF513 LIMK1 PRDM5 BAZ1B SKIV2L RPL11 SIX6 XYLT1 MERTK UFD1 CLRN1 SNRNP200 DCN MAF NEK2 CEP57 AHR SMC3 DHCR7 CENPJ PEX13 SMC1A GTF2IRD2 RNU4ATAC STUB1 GP1BB ESCO2 RP1L1 CD247 FKBP6 TMEM98 CLDN4 VPS37D TRIP13 MLXIPL TWIST1 KDSR HP_ABNORMAL_CONJUNCTIVA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CONJUNCTIVA_MORPHOLOGY SAMD9 TNFRSF13B AP1B1 CD19 NLRP3 IARS2 ENG UBAC2 UROS BTD ERF IL23R PTEN ERCC8 SREBF1 MAPT HLA-B IGLL1 ERCC1 ERCC5 WAS MPLKIP PLG ERCC2 GNAS FUCA1 MBTPS2 GJB2 PIEZO1 MEFV TFRC CD79B CCR1 KLRC4 KRAS PCNA IGSF3 C4A PKHD1 ACVRL1 FGFR2 GALNT3 FAS ERCC6 CTSA STX16 BTNL2 ICOS DNASE1L3 USB1 NLRP1 RAG1 PSMB9 TP63 AKT1 HLCS FOXC2 FGFR3 TARS1 MASP1 BTK KAT6A SDHD SHMT2 LBR RNF113A TNFRSF13C DDB2 TLR4 PSMB8 DACT1 SCN9A COL17A1 KLLN POLH FGF10 PIK3CA GLA IGHM SDHC PAX1 SDHB BLNK SLCO1B3 IL10 KRT1 IL12A MANBA WIPF1 VPS33A SEC23B MMP1 GTF2E2 STX11 KRT10 FERMT1 PEX6 GATA1 LRBA ERCC3 SLC39A4 XPA LRRC8A TNFRSF1A STAT4 MAB21L1 IL12A-AS1 SETX SMAD4 HLA-DRB1 TKT FBN1 DKC1 ERCC4 RNF125 NOD2 COL7A1 MTTP SLCO1B1 GNAQ CR2 TCF3 XPC AIRE KRT14 IKZF1 GSN UROD PSMB4 PIK3R1 GJB6 SALL1 GDF2 CD79A ERAP1 AEBP1 RAG2 ASAH1 PITX2 USF3 FGFR1 GTF2H5 PIGA ATM RNF168 ANO10 HP_VISUAL_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VISUAL_IMPAIRMENT CCDC32 PIGA LEMD3 MECR CCDC47 CEP290 SEMA3A ERCC8 PTPN22 CAMK2B DPM1 VPS51 MT-CO2 ADGRV1 GRIK2 INPP5E NDP MT-TK RERE GABRB2 WDFY3 OPA1 CDH3 TUB CEP41 GUCA1A CACNA1B PIK3CA ANKRD11 UBE4A LCA5 SPEN MT-TS2 PAX6 PUS3 XYLT2 SIX3 RPE65 ZEB2 GJB2 PEX12 IFT140 ATXN7 ITPR1 FGF8 TREX1 ADAMTS10 KCNMA1 ACVRL1 IDH3A SAG ZNF408 PROKR2 HUWE1 TGFBI CACNA1F GLI2 PRKCZ GDF6 TOPORS PEX6 GUCA1B BBS2 SALL4 LRPAP1 TYR FZD4 NAGA IFT88 DOCK7 USP45 CFAP418 MAPK8IP3 PQBP1 MT-ATP6 PAX2 PDE6C NCF1 KIF14 CUX1 CREBBP CERT1 FOXL2 TWIST1 MT-TE UROD KRT12 B3GALNT2 RFT1 RRM2B ERAP1 PROK2 SETBP1 SOX3 MT-TC SMARCA2 RGR PTCH1 PRPF3 CHN1 JARID2 ARL3 ARID2 TUBB2B MBD5 TK2 PDE4D ZMIZ1 NEU1 PLA2G6 POMT1 PGAP1 PLG GRK1 DMPK MT-TF SH3BP2 ELN ARID1B CHP1 SLC38A8 NODAL PDE6G CACNA2D4 TCIRG1 TANGO2 EIF4H ITM2B TUBA3D HLA-DQB1 PRPH2 COPB2 LYST MT-CO1 DNM1L MED27 TAOK1 TULP1 CA2 DHX38 EPM2A PSAP CLDN3 ATN1 SPTBN4 RHO CDHR1 IL10 PIEZO2 SHH HSPG2 JAK2 SMG9 CLCN7 FKTN PDE6B NAA10 GP1BB TUBGCP6 AIMP1 RBP3 SDHB LRP5 TSPAN12 ACO2 PDSS2 PPP3CA CNNM4 CHST6 XYLT1 CNGB3 GPR179 ARHGEF2 POLR1C FBN1 CLN8 AP4M1 MTTP FOXC1 NCDN PET100 COX6B1 CDH23 LAMA1 FGFR3 TMEM270 SATB1 OPA3 BCL10 TGIF1 RGS9BP RP2 NMNAT1 RAD51C KIF11 LCAT HS6ST1 CA4 BEST1 ATP1A3 EARS2 SDCCAG8 OVOL2 RAB3GAP2 GUCY2D CFI CLTC NFIX IL2RA CLCN4 C4A IDS AKT1 IBA57 WHRN NDUFS1 TCOF1 BAP1 TMEM216 SLX4 TBCK FLVCR1 LRAT AIP BMP4 HPDL FGFR1 ZC3H14 RRAS2 SLC19A2 ISCA2 IMPDH1 MC1R GM2A RPGR MED23 METTL27 PRPS1 CBS SOX10 HARS1 NOTCH3 BRAF CKAP2L COL17A1 EFEMP1 PSMD12 SH3TC2 PPP1R12A HS2ST1 MAP3K7 METTL23 CWC27 TRIM44 PEX5 PUS7 PRSS12 GNA11 LTBP2 TUBGCP4 NADK2 ANKH P4HTM RPS20 TMEM98 PIGS SLC39A4 ABCC6 CRB1 CEP250 COL4A1 MAG PITX3 IQSEC1 THSD1 SETD1B TRAF7 RLIM MMP1 IKBKG RFC2 AP3B1 ASB10 AIRE SCAPER UBE2T B3GLCT USP8 MTRFR PEX10 RSRC1 FN1 BOLA3 SCN3A ATP1A2 MFSD8 CACNA1D MT-ND1 MAN1B1 CFHR2 DHX37 PRTN3 KIF5A KCNJ13 CFHR1 AIPL1 HLA-B CNGA3 CLIP2 MYOC COQ2 RMRP EDC3 EYS POLG SCN8A SLC6A6 PIGT SMARCE1 SLC4A11 BDNF FOXRED1 MSH6 HESX1 UFM1 CIC AAAS TRIP12 HGSNAT PROS1 AMACR CACNG2 SCO2 ZIC2 SMARCA4 SUCLA2 FANCL MT-ND4 SDHA KAT6A PHOX2A POMT2 ERCC6 PYCR2 SLC24A5 PIGY CTNS DPYSL5 NDNF CTNNB1 PEX7 ARX MT-ND3 DDX6 NDUFS6 PMS1 POMGNT1 DCN MBOAT7 KIF1A RALGAPA1 TCF4 SMAD4 BRAT1 ATRX MED12L POU3F4 LZTFL1 SEMA4A GNAQ COL7A1 NDUFB8 PRKDC SLC24A1 AFG3L2 PHGDH PRNP TACSTD2 TUBB4B KARS1 FANCD2 DYNC1H1 LARGE1 NEMF SEPSECS PROM1 LMNB1 KMT2E GTF2I COL3A1 HLA-DPA1 GJA1 ARL6 TTR GALC NYX TNFRSF11A GPR143 CCR1 SPG11 PEX3 AP4S1 ZNF469 SARS1 DPP6 IDH3B SPTBN1 ARL2 TGFBR2 LSS CRYAA P4HA2 CHM PMS2 IMPG2 CYP1B1 UFSP2 NDST1 ATIC CDH15 GNAT2 WASF1 FREM2 SCN1A ITGB3 TMEM67 IMPG1 CSNK2B ZMYND11 HADHA TRAPPC9 RFWD3 TRAPPC12 ZNF423 MSX2 COL9A1 CACNA1A PRPF31 STXBP1 TACR3 CACNA1E CCDC141 CRX BPTF PEX16 DDX3X PTPN23 MT-TL1 SLC45A2 ADAM9 IGBP1 PDZD7 SPATA5 PIGN ADNP MT-TW STAT4 CLCN2 COL2A1 REEP6 FSCN2 KIAA0586 CLP1 SMARCC2 TGFBR3 DNAJC30 USH2A GTPBP3 CARS2 BCORL1 SUMF1 TAT ATF6 PEX2 TPP1 ZIC1 NARS2 ANTXR1 ITGA2 AGO2 FRRS1L CLCN6 RAB28 SOX2 FOXH1 POLR1D NSMCE2 HK1 ERCC1 DYRK1A GPAA1 MIR204 AHR TNFSF11 ANGPTL6 ASNS LINS1 CSF1R VPS13B CDON FANCA RNF13 TBC1D24 MMP19 CFH UBE4B KIRREL3 MIR184 RAB11A MFN2 FDXR TCF20 SMO COQ7 PPT1 MTRR KAT8 NDUFS2 TRAPPC11 LRP2 INVS CNGB1 TUBB4A RS1 CYP4V2 SLC7A14 GRIN2B YME1L1 CLN6 MICOS13 ELOVL4 GRIN1 FAN1 TTLL5 PRPF6 WDR19 FANCF GNAS SLC52A2 RDH12 TBC1D20 WAC PNPLA6 PEX26 FEZF1 COX7B PRDX1 BBS5 TRAPPC4 CTLA4 DLL1 CC2D1A CTC1 HPS6 TSEN34 SPRY4 CLRN1 CAMK2A MADD RORA ENPP1 CC2D2A CFHR3 NHLRC1 MT-TS1 MAFB GTF2IRD1 C12orf4 TMEM237 ZNHIT3 KRAS NDUFS7 NTNG1 C1QBP MEFV TENM3 LAMB2 TLCD3B ARSA BCOR MT-ND6 MT-ND4L SLC12A2 KANSL1 AP4E1 NDUFB11 CCDC28B GNAT1 MYO7A RAC1 CD109 SDHD ROM1 GAS1 EIF2B5 SNX10 TIMP3 NR2E3 MT-TH FGFR2 LMAN2L ALPK1 DUSP6 XRCC2 STAG2 CABP4 RP9 FGF17 MT-ND5 HLA-DRB1 VAMP2 APOE ST3GAL3 GATA1 ADAMTSL4 IL12A-AS1 DCPS SOBP MT-TQ EIF2B2 HLA-DPB1 FANCC NDUFA6 NDUFB10 DTNBP1 GMPPB GDF2 SUFU TTC5 AGBL5 SMARCD1 SALL2 RNU4ATAC RAX2 OPN1SW POGZ COL8A2 EZR MAD2L2 HSD17B10 ABCD1 SOX4 PEX19 TEK RDH11 EXOSC8 MARK3 ESPN SMARCB1 CHAMP1 MT-ND2 ABCA4 PMPCB GNB1 PEX1 CLN3 FMN2 THOC2 ELMO2 ALG3 LAT2 KCTD7 DISP1 NRL GLRX5 NF2 TIMM8A TUBGCP2 TNIK GATA2 HPS3 LIMK1 FRAS1 PRDM5 CEP164 C1QTNF5 CHD3 MAK ST3GAL5 PIGC SPATA7 OPN1MW SNRPN MFF SET EIF2B4 PRPF8 FOXP1 SOST FLNA KIAA1549 TRPM1 CD247 GABRA2 NPHP1 FANCG NR2F1 COL9A3 CRYGC NDUFB3 BRIP1 GABRD TMEM126B GMPPA MT-CO3 FANCM PALB2 ERCC2 SARDH SF3B1 ARL2BP ENG GNB3 PCARE GRN SFXN4 NHS NSUN2 GJB6 MT-TV HEXA ANOS1 OFD1 TDGF1 ZEB1 WASHC4 HPS1 KDM5B FAS FGF12 CEP78 POLG2 MSH2 PLXND1 MTHFS TUBB3 TRPM3 ERCC4 SLC25A46 GRIP1 IL2RB PDE6H PRIMPOL RBP4 NDUFAF3 PIGP LOXL3 IQCB1 RP1L1 FKRP OSGEP FA2H FDFT1 GRIN2D TSEN2 OCA2 SELENOI KCNV2 COG5 NDUFS8 BCL7B MFRP RGS9 ARID1A CEP85L NEUROD2 MT-CYB B3GAT3 DIAPH1 PIGB DRAM2 IL23R BRCA2 EPB41L1 MPL DEAF1 SLC25A1 POMK RAB18 KIDINS220 FLRT3 SVBP PDXK AFF4 TANC2 PPP2R1A CNGA1 COL9A2 POLR1B BUD23 HNMT SYNGAP1 PLEKHM1 RPGRIP1 OSTM1 FRMD7 APC FIG4 FANCB CRYBB1 KIZ POLR3GL RLBP1 TMEM126A NDUFS4 MAB21L1 PHF6 SETD5 DOCK3 NDUFS3 TRAPPC2L VPS11 ALG2 USH1C TWIST2 BRCA1 TBX1 OPN1LW CRADD PDPN CFAP410 ITGA2B MLH1 UBAC2 AHDC1 STX3 AHI1 SYNJ1 TCF12 GRM7 EMC1 HEXB ADA2 PPP2CA YAP1 PGK1 TELO2 CHST3 PCYT2 BLOC1S3 PRCD CEP120 PEPD TLR4 DLD SNRNP200 NTRK2 PEX14 CLIP1 HECW2 VPS4A C19orf12 SON RP1 ARHGEF18 WDR45B POC1B COL18A1 CDC42 LUZP1 SRD5A3 XRCC4 ACTL6A IKZF1 PIGQ NDUFV1 RAD51 ARSG FOXG1 OGT LAMP2 PEX13 NDUFAF1 DCT CLCC1 RAB11B IFT172 HCCS FANCE ABHD11 MTFMT MMACHC PCDH15 HLA-A OAT DCC SYT1 FDX2 NLRP3 FANCI MBTPS2 WDR26 PHYH STX1A FBN2 DDR2 EIF2B1 BTNL2 PCYT1A EPCAM GRM6 AKT3 WARS2 KIF1C NDUFAF8 OTX2 ALMS1 IL12A GDF3 RIMS1 TP53 TRIO MED13 THPO WDR11 MAF NEK2 HPS5 LAMC3 CSPP1 GTF2IRD2 ASPA CTSD TMEM231 DLAT DOCK8 VPS37D SURF1 SAR1B TSEN54 MCOLN1 USH1G EIF2B3 COL11A1 ARNT2 UROS ERF PDHA1 RAB3GAP1 ANKRD55 MMP23B FCSK HIVEP2 SMCHD1 RTN4IP1 RPGRIP1L ZFYVE26 VSX1 OCRL MERTK GRIA4 MLH3 ACTL6B TBL2 VHL NPHP4 CLN5 NF1 PDGFB ABCA1 CRBN SLC35A2 UBR7 BBS1 TRNT1 TRAF3IP1 GPR101 EPRS1 PUF60 GSN TP53RK FH KDM4B NDUFB9 PDE6A PITX2 POLA1 TASP1 SETD1A VCAN CHRDL1 GABRB1 GP1BA TMEM138 YIF1B SREBF1 NDUFAF4 RD3 CNTNAP1 BIRC3 CERKL B4GAT1 SDHAF1 NDUFAF2 NDUFV2 TTPA BRSK2 CYSLTR2 NOD2 PORCN CASK NDUFAF5 TSFM ASH1L CNOT3 PLOD1 KLHL7 LIM2 MALT1 AP4B1 EEF1A2 PIGU FAM161A MKS1 PITPNM3 TTC8 GRHL2 NDUFA1 SLC45A1 UNC119 NUBPL PANK2 PRPF4 TSEN15 UCHL1 SRY ARMC9 REV3L TRMT1 BLOC1S5 CDK8 FBXW11 PRRT2 TFG SOX11 BTD TENT5A MYT1L BMPR1A WT1 PCDH12 PTPN2 FARS2 KLRC4 KCNQ5 NBEA GLB1 POLR2A MED25 DHDDS RIMS2 ADARB1 SLC39A14 HPS4 CDKL5 CHD7 DPF2 TECR PARS2 PEX11B CHMP1A MEN1 MAPKAPK3 SHANK3 RHOA NUS1 AFF3 FXN LONP1 RCBTB1 SLC1A3 FBXO31 GLYCTK SLC25A4 GTPBP2 NPHP3 CYP27A1 PALS1 KDELR2 AMPD2 ARHGDIA SMC1A CAPN5 KIF3B ACTB HMCN1 IL17RD NCAPG2 KCNAB2 NDUFA11 ALKBH8 MLXIPL LRIT3 ZNF513 NBAS SKI TRRAP BAZ1B HSD17B4 TERT IFT74 CASZ1 H1-4 ELOVL1 PRDM16 NTNG2 TIMMDC1 YARS1 PLK4 RDH5 ERCC5 TWNK AIFM1 CIB2 FKBP6 CLDN4 HTT HIKESHI NDE1 TNRC6B TUSC3 PIK3R2 MTR RIC1 HP_TELECANTHUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TELECANTHUS CCNQ SEC24C TBL1XR1 PIK3R2 ANKLE2 PURA EXOSC1 FOXL2 SPECC1L UBE3B PPP1R21 CDH11 COMT FBN1 ARL3 GJA1 JMJD1C C12orf57 KRAS TLK2 EBP FOXC1 ACTG1 GLI3 PTCH2 DOCK7 OFD1 EFTUD2 RAB23 KMT2A CDK10 SPOP WDR35 DDB1 ALG9 CHRNG EFNB1 C2CD3 MYH3 SNAI2 CRIPT NFIX AKT3 NOTCH2 UBR7 RPS6KA3 LMX1B FLNA DDHD2 ANKRD11 IFT43 ACTB MITF ATP6V1B2 NSUN2 PAX3 ZEB2 DSE LIG4 MID1 SNX14 MASP1 ADAMTS18 MAP2K2 KITLG KCTD1 B4GALT7 SOX10 ETFA HIRA TWIST2 MAP3K7 CHST14 KDM6B ADAT3 MYOD1 ETFDH TBX1 PIK3R1 PITX2 ZNF148 MUSK OTUD5 ERF HECW2 PIGU GPRASP2 VPS33A UFD1 COLEC11 HHAT FGFR1 MAFB ANKH H1-4 COLEC10 NEK1 STXBP1 HNRNPU ZSWIM6 ETFB USP9X HRAS DVL3 TAPT1 KCNN3 TFAP2A FGFR3 PQBP1 GP1BB ZMPSTE24 ALX4 FGFR2 STAC3 SKI EDNRB YY1 HDAC8 KAT8 PTCH1 FLNB IFT122 CCND2 ATRX KIFBP CREBBP FGF10 RNF125 XRCC4 ARVCF SUFU COL3A1 MSL3 LMNA EDN3 KCNH1 NRAS PIGQ SLC26A2 CDH2 RREB1 ADH5 TYR PTH1R IFT52 HP_PTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PTOSIS A2ML1 CCDC32 COLEC10 DIS3L2 ALX3 CCDC47 CACNA1A SEMA3A SLC18A3 KMT2D HPGD PTPN22 MAP2K2 HNRNPK KANSL1 MUSK ABHD5 SLC6A8 ANOS1 RERE WDFY3 SMAD4 MRPS28 PAX7 MYO9A ABCC8 CDK19 CEP41 SLC13A5 IER3IP1 BRAF GATA1 TPM3 CBL VCP MAP2K1 ZEB2 CHRNE CDK13 SOS2 IFIH1 SAMHD1 AKT1 POLG2 SC5D FGF8 RAPSN CNKSR2 ASXL2 PLXND1 INPP5E NXN CHRNA1 ACKR3 KCNMA1 TUBB3 SOS1 GABRB2 RPS27 DOK7 DPAGT1 ERCC4 NTRK2 TWNK PLEC PAX6 TCTN1 NGLY1 DBH TRAK1 HUWE1 NRAS VARS2 CTBP1 NOTCH3 ACTB NDUFAF3 PEX6 SLC1A2 SUCLG1 FAT4 SHH NALCN TMEM67 SALL4 KBTBD13 POLG CDH23 CHRND GPC4 ZNF699 ROR2 ZSWIM6 SYNE1 LRP4 TACO1 AFG3L2 RPS29 RPS10 TMEM237 CREBBP CERT1 FOXL2 PUM1 MT-ND1 RRAS2 RRM2B FAM149B1 PROK2 UGDH AEBP1 ZIC1 ATP6V1A SLC25A1 SMARCA2 NDUFS8 KCNJ11 RPGRIP1L RPS24 UBA5 CHN1 SELENON ADNP JARID2 COL13A1 DNM1 ARID2 NEB AHI1 COMT PREPL TK2 PDE4D ZMIZ1 DVL1 ATRX BRCA2 DMPK DNM2 CHAT PET100 SHOC2 GBA ARID1B GCK GRM1 NDUFA12 PACS1 HRAS NDUFS2 KIFBP ITCH NDUFS3 FLRT3 WFS1 SVBP RRAS CYFIP2 TOR1A AFF4 TANC2 FGFR1 FGFR3 DNM1L MED27 CCDC115 TPM2 BPTF PDX1 ECEL1 FGFR2 BRD4 AARS1 SCN3A KAT6A NDUFA13 ARL13B ATG7 OPA1 HIRA GLI2 SLC18A2 EEF1A2 IGF1 TBX1 CC2D2A SLC12A6 SETD5 MITF FAR1 ODC1 FANCB PIEZO2 STXBP1 SLC30A9 TAB2 MYPN WWOX ADPRS SMC1A C9orf72 NDUFS4 KDM5B AUTS2 DISP1 RALA GFPT1 PHF6 DOCK3 QRICH1 SUFU ARHGEF2 GLE1 YARS2 GRIN2D PPP3CA KCNH1 MTTP PAX3 LAMB2 SOX10 EDEM3 BRCA1 NDUFV1 EXOC8 SATB1 ECHS1 SUCLA2 MYH8 RAF1 HMGB3 RAD51C RPS28 FUS IREB2 RIT1 HS6ST1 RNASEH1 SLCO2A1 ARMC9 RPL18 EARS2 COA8 KMT2A BCOR CHRNG IDS SLC25A4 KDM1A YAP1 NDUFS1 HOXB1 ZIC2 SMC3 FGD1 TMEM216 SLX4 ALX1 NELFA AIP TARDBP FOXC2 MID2 CEP104 MASP1 EED CEP120 MYF6 MAPK1 ALDOA SIX3 TH PIGL LMOD3 CELF2 SLC6A9 RBCK1 PEX14 HECW2 PPP1R12A ACBD5 HS2ST1 HCN1 PEX26 ZC4H2 UBE3B ZBTB20 PUS7 COLEC11 PTEN NEFL MYF5 TBK1 SPECC1L TFAP2A CDC42 VAMP1 RLIM SYNE2 RPS26 MTMR14 ACTL6A DCHS1 ARV1 CHRNB1 MAPK8IP3 UBE2T PIGQ SLC3A1 FGF13 MTRFR KCNA2 SZT2 FOXP1 RAD51 TET3 PSMD12 RBM8A NDUFAF1 PDHA1 PIGG TGFB3 ARID1A PEX1 DHX37 RNASEH2C KIF5A KCNB1 MRPS34 DGUOK FANCE CSPP1 COX10 SNAP25 RNASEH2A MYH3 LETM1 DARS2 SMARCE1 BDNF DCC FDX2 FANCI MT-TN NDUFAF6 KDM6A DLAT PEX2 PHYH GABRA5 TRIP12 MRAS NDUFA10 PEX7 COQ2 PEX5 RPS19 LMNA CACNA1B SCO2 NDUFV2 NOTCH2NLC CPLANE1 SMARCA4 FANCL MYO18B STAT3 KATNIP SDHA PHOX2A MGME1 SETBP1 TMEM107 RPL11 MICU1 NDUFAF5 DHDDS NDUFAF8 DPYSL5 NDNF GNAI3 SCN8A MT-ND3 DDX6 NDUFS6 UFD1 TRIO MED13 WDR11 MAF YWHAG STAMBP SYNGAP1 LZTR1 FGF12 ACTA1 GP1BB SOST HSPG2 STAC3 SKI TMEM231 CHD4 NUS1 NDUFB8 MECP2 SURF1 TWIST1 RYR1 NPHP1 NDUFAF2 FANCD2 ZMYND11 GFER ANKLE2 KMT2E HDAC8 IARS2 CFL2 ERF ADA2 KRAS FBN1 PTS EBP PEX10 SF3B4 SYNJ1 NOP56 PEX3 MED25 UBR7 PLCB4 P4HA2 SGPL1 SCN4A GRIA4 B9D2 CLTC GIPC1 ACTL6B SHANK3 RFWD3 EP300 ZNF423 CBY1 ARL3 GABRA2 TACR3 CCDC141 PYROXD1 PTPN23 SMS RPS20 SMARCC2 GMPPB TOP3A COL1A2 PPP1CB FARS2 FGFRL1 PEPD LIPT1 SLC19A3 FOXRED1 CPLX1 GATA3 MED12L PABPN1 HPDL RPL26 PUF60 COL3A1 GSN SYT2 BCORL1 KDM4B NDUFB9 TYMP HESX1 NARS2 CHD7 ADAR MCM5 KLHL41 AGO2 PTPN11 SEPTIN9 TYR RAD21 ANO10 BRCC3 SEC24C PURA LMX1B COLQ RPL27 KIAA0586 TMEM138 DNA2 NDUFAF4 JMJD1C TLK2 ACTG1 CNTNAP1 WASF1 TCTN2 PEX16 NOVA2 TRAF7 TREX1 MTM1 NIPBL SQSTM1 GLI3 TTN ATXN3 COX15 NSUN2 FANCA RPL15 DHCR7 TSPOAP1 PARS2 MT-ND2 STIL CEP290 UBA1 CNOT3 TUBB6 PLOD1 MT-TL1 PIBF1 TGFB2 TCF20 TFAP2B NDUFS7 MYOD1 FGF10 LGI4 TBC1D24 KAT8 MYMK B9D1 GPRASP2 MKS1 MYH7 RPL31 NDUFA1 NF1 SIAH1 ZNF462 NUBPL FANCF ESCO2 TBC1D20 ARVCF CAPN15 PSAP B3GLCT FEZF1 RREB1 NAA10 REV3L FZD2 TRMT1 CSNK2A1 TRAPPC4 AGRN RPS17 CDK8 SLC5A7 FBXW11 SPRY4 KIF21A SOX11 MADD NSD2 MYT1L RPS15A LONP1 WDR73 MAFB WT1 KIF11 CHCHD10 NTNG1 C1QBP RPL35 HYLS1 SNAI2 TENM3 NUTM2B-AS1 RPL35A PROKR2 RAB3GAP1 EDN1 FBXL3 SLC12A2 WNT5A GABRG2 TSR2 TMEM43 NDUFA2 DPF2 NECAP1 TP63 TCOF1 FLNA BRPF1 SEMA3E MTFMT ATP6V1B2 SMARCB1 PEX11B COL25A1 DUSP6 XRCC2 GRIA3 MEN1 FGF17 TMCO1 HLA-DRB1 RPL5 RNASEH2B TOGARAM1 BIN1 MED13L YY1 FANCC MED12 NDUFA6 PDGFRB NDUFB10 APC PAH EDNRB SMARCD1 ALG2 MT-TL2 PEX13 MAD2L2 PALS1 RB1 AP3B2 SOX4 AK9 ALG14 PEX12 MARK3 SLC17A5 UNC80 TCF12 SPR IL17RD RSPRY1 CNP SIX2 NDUFA9 NDUFB11 NDUFA11 PEX19 SPRED1 KITLG RPS7 HLA-B KIF1B MYH2 ZFHX4 NDUFA4 SLC52A3 DVL3 LIG4 COL2A1 INS NTNG2 FHL1 TIMMDC1 MT-TS1 FLI1 TGIF1 RASA2 HTT FANCG DALRD3 TNRC6B NDUFB3 BRIP1 TMEM126B DDC PIK3R2 FANCM EMD PALB2 LRP12 HP_ROD_CONE_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ROD_CONE_DYSTROPHY COQ2 RPL10 PDZD7 CEP290 ARL2BP NDUFA9 ABCA4 PANK2 CFAP221 BEST1 ODAD2 FLVCR1 CRB1 KIF5A PEX1 ARL6 MT-ATP6 USH2A RBP3 GUCA1B TMEM67 C1QTNF5 PDE6G BBS7 LRAT EXOSC2 ASPA ADGRV1 HGSNAT PRPF4 REEP6 CRX HMX1 WHRN USH1C MT-ND3 ARL2 PRPS1 ACOX1 PEX26 DNAJB13 TELO2 IMPG2 TRNT1 MT-ND1 CCNO CCDC28B DRC1 MERTK BBS12 MDH2 ROM1 MT-ND4 WARS2 ODAD1 SDCCAG8 BCS1L RSPH3 RPGR CLDN19 SNRNP200 SH3TC2 SPEF2 CWC27 BBS10 PEX10 MT-ND2 ZNF408 MYO7A CCDC39 ACBD5 RP9 MAPKAPK3 RP1 PCARE DYNC2I2 MYO6 BBS1 BBS2 NRL BBS4 PEX3 SAG MT-TW CLRN1 DNAH11 CFAP418 PCDH15 HSPD1 HK1 SRD5A3 MVK TTC8 GAS8 FSCN2 PEX14 IDH3B RSPH1 ATXN2 BBIP1 PEX2 PDE6B NME8 CFAP410 PEX6 NEK2 PDE6A PEX13 RGR DNAH5 ODAD4 APOB MFRP CIB2 DNAAF11 CFAP298 KLHL7 POGZ HYDIN PRPF3 PRPF6 PEX5 KIZ HSD17B10 ARL3 GATA3 PEX19 IFT172 MKS1 DHDDS DNAH1 PEX7 MT-ND5 PRPF31 RSPH4A AIPL1 RDH11 DNAAF2 NR2E3 KIF3B EYS GGCX GRK1 SH2B1 CERKL DNAH9 IQCB1 AHR MCIDAS PEX12 CNGA1 TRAF3IP1 CLN3 DNAAF4 TTC12 CDHR1 PHYH MKKS DNAAF1 CFAP300 DPAGT1 NPHP4 CCDC65 SLC35A2 FOXJ1 MT-TK SPAG1 TOPORS IFT140 TULP1 IMPDH1 ZMYND10 DNAI1 PRCD NEK10 SEMA4A FDXR DNAL1 ALG6 PEX11B GAS2L2 PMM2 ABHD12 RLBP1 DNAI2 MAK FAM161A MT-TL1 CNGB1 DNAAF6 SLC7A14 CDH23 RHO IFT74 ODAD3 IFT27 RSPH9 BBS9 DNAAF3 CCDC40 CCDC103 WDR19 MT-ND6 PROM1 DHX38 PRPF8 PEX16 ZNF513 LZTFL1 OFD1 MTTP CTSD DNAAF5 MT-TV AP3B2 BBS5 USH1G PPP2R3C RPE65 NPHP1 PRPH2 LRRC56 STK36 RP2 HP_VERTICAL_SUPRANUCLEAR_GAZE_PALSY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTICAL_SUPRANUCLEAR_GAZE_PALSY CCDC88C ACOX2 DCTN1 DLAT ATP13A2 MAPT ATXN1 NPC2 NPC1 VPS13A NOP56 POLG PIGT FTL KCNC3 SQSTM1 SPG7 ALDH4A1 POLR3A PLA2G6 AASS TWNK SH3TC2 HP_ABNORMAL_ELECTRORETINOGRAM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ELECTRORETINOGRAM PROM1 CRX CFHR3 ABCA4 GNB3 BEST1 PCARE CA4 ARL2BP USP45 BBS1 ARL6 ADAR PEX1 ADGRV1 RPE65 LRAT NYX BBS12 PDE6A OFD1 GUCY2D GDF6 EMC1 IFT27 MKS1 NPHP1 IDH3B IDS GUCA1A USH2A ACOX1 TRPM1 EYS LCA5 PRPF3 SPATA7 DHDDS FLVCR1 GNAT2 MYO7A IFT140 RS1 CEP78 PRCD IMPDH1 BBS5 AIPL1 BBS7 RPGR TIMP3 NR2E3 HADHA KIAA1549 NOTCH3 PDE6B IDH3A IFT74 SAG PDE6C RHO RGR CWC27 PRPF31 BBS9 GNAT1 PDE6H CABP4 RP9 PRPH2 IMPG2 TOPORS RP1 BBS2 USH1C AHI1 GUCA1B RP1L1 CNGA3 WWOX NRL IQCB1 PDZD7 SCAPER CRB1 ZNF699 IFT88 CEP290 RDH12 CFAP418 CACNA2D4 REEP6 ZNF408 CNGB1 ARHGEF18 POMGNT1 RD3 SEMA4A MT-ATP6 CERKL AGBL5 IFT172 TPP1 ARSG CEP104 BBIP1 MKKS MFRP RLBP1 CLCC1 WHRN SLC7A14 ROM1 KIZ PCYT1A LZTFL1 CFHR2 NMNAT1 KCNJ13 MCOLN1 ARL3 CAPN5 SSBP1 KIF3B RNF216 POGZ GRK1 ESPN OPN1SW CDH23 PIEZO2 PEX12 AGK PCDH15 PDE6G CLN3 CACNA1F SLC25A4 ALG3 TULP1 MAK PRPF8 HGSNAT WDPCP NUP62 TIMM8A CNGA1 SUCLA2 FSCN2 LRIT3 DHX38 GRM6 CDHR1 RPGRIP1 KLHL7 ZNF513 HARS1 PPT1 HSD17B4 GNB5 TTC8 MERTK CYP4V2 CHM CLRN1 SNRNP200 SDCCAG8 NEK2 AHR LARGE1 TKFC PRPF6 CNGB3 RDH5 GPR179 OPN1LW PNPLA6 TUB PRPF4 CLN8 CIB2 RP2 OPN1MW RBP3 FAM161A MT-TS2 PDE6D VSX1 BBS4 TRIM32 USH1G CEP19 ATF6 BBS10 SLC24A1 HP_SLOW_SACCADIC_EYE_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLOW_SACCADIC_EYE_MOVEMENTS ATXN1 AGTPBP1 MRE11 ELOVL5 ATXN2 ATP2B3 PDYN ATP13A2 AFG3L2 GBA MAPT SNCA ATXN7 FBXO7 ALS2 PIK3R5 VPS13A PRNP PLD3 NOP56 TMEM240 VAMP1 SHMT2 COQ5 DARS2 CHP1 ATXN8OS DHX16 GJC2 PEX2 SLC44A1 HP_ABNORMALITY_OF_THE_LENS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_LENS ERCC2 LARGE1 SF3B1 ARL2BP BUB1B ALX3 MAFA PCARE SUFU ERCC8 AGK NHS TRPV4 MT-CO2 ADGRV1 RBP3 INPP5E APC TAPBP MT-TV KANSL1 ABHD5 GNAS NDP MT-TK VIM OFD1 SMAD4 MRPS28 ARSL HMX1 GATA1 DAG1 CENPF FAS GJA3 SPEN PEX3 SMAD3 XYLT2 STX16 RPE65 AGA ZEB2 TUBG1 PEX12 IFT140 FAM111A VLDLR RS1 CEP78 COG4 POLG2 SC5D ADAMTS10 JAM3 BCS1L RPS27 ALDH18A1 KIAA1549 IDH3A DYNC2H1 ERCC4 SAG TWNK MIR140 SREBF1 TMEM70 PAX6 SDHC ZNF408 AKT1 IL2RB FIG4 PRKCZ IMPG2 TOPORS PEX6 PARN GUCA1B LOXL3 KRT83 PEX5 BBS2 SALL4 POLG WDR19 IQCB1 DMPK RET FZD4 GMPPB VAC14 IFT88 MTAP PEX7 EHMT1 FKRP NOD2 PQBP1 CA8 RPS29 RPS10 PTCH1 NCF1 CREBBP B9D1 SPATA7 TGFBI MT-TE COL2A1 PIK3C2A MIP PEX19 RRM2B ERAP1 B3GALT6 MT-TC UBE2A FBN1 BCL7B MFRP LCA5 RPS24 B4GAT1 ROM1 SLC2A1 RECQL4 ARL3 BUB1 COMT RAB3GAP2 COL5A1 IL23R NEU1 ALG2 BRCA2 FOXE3 SUOX POMT1 MPLKIP FBXL4 PTCH2 CYP27A1 WDR35 CHSY1 SIL1 MT-TF CEP290 KIAA1109 MAX USH2A ELN POMK GFER PDE6G EIF4H COL4A1 ABCA12 B3GALNT2 RAB18 ZNF335 OTX2 SLC33A1 TULP1 CRYGC INPP5K B9D2 CRPPA JAG1 CDH11 AFF4 EPHA2 AASS DNM1L CNGA1 COL9A2 FH POLR1B FSCN2 BRD4 TARS1 PTH BUD23 DHX38 FGF5 SDHD LEMD2 RPGRIP1 MKS1 OPA1 HIRA CYP1B1 B4GALNT1 MT-TS1 DACT1 CLDN3 KRT74 PMM2 TBX1 ATP6V1A TMEM216 FAR1 FANCB CRYBB1 IL10 MED27 HSPG2 PHGDH DLL4 KIZ GALM POLR3GL RLBP1 PEX11B CC2D2A AMER1 FKTN TGM3 NAA10 CLPB TUBGCP6 ETFB SLC25A4 SLC4A4 LRP5 KCNN3 POMGNT1 PEX16 ERCC5 ATP8A2 CPT2 NOTCH1 BFSP1 POLR1C CFAP418 TUB LMNA FOXC1 NR2E3 CRYGD FAM111B GBA2 TRIM44 RHO POMT2 CDH23 BRCA1 TMEM270 RXYLT1 PDPN CFAP410 KIF1B KMT2C RP2 NMNAT1 RAD51C RPS28 GJB6 TRAPPC11 KIF11 BUB3 CRYGS UBAC2 CA4 FLVCR1 PTEN USP45 BAP1 RPL18 FTL PEX1 TAP1 ESCO2 SDCCAG8 SLC25A13 BCOR TCTN3 VHL BEST1 GUCY2D PEX26 OCLN COL4A3 LPAR6 IL2RA CNBP OPA3 C4A YAP1 EYS ATOH7 TCOF1 TELO2 SLX4 ALX1 IFT80 DSG4 CNGB3 HNRNPDL LRAT ADAMTS18 PRCD LOXL1 FOXC2 IMPDH1 RPGR EED MYO7A RNF113A METTL27 CBS TLR4 SEC23A GJB3 ADAMTSL4 GLA FLNA PEX14 SPRTN ERCC3 VPS4A ZBTB20 EPG5 PAH NAGA GNA11 LTBP2 NACC1 MVK DOCK6 ERCC6 NDUFB11 CRB1 XPA GCNT2 DPAGT1 PITX3 TFAP2A RP9 LUZP1 GJA1 IKBKG RPS26 RFC2 XPC AIRE SCAPER VCP UBE2T B3GLCT EBP USP8 STAT4 GALT DDB2 RAD51 ARSG GTF2H5 ALG3 TKFC USF3 COL11A1 PEX13 CRYGB FAM126A TMEM237 TMEM107 KCNJ13 PRUNE1 CLIP2 DGUOK FANCE ABHD11 NF2 ADAMTS17 ALG8 NSD1 IFT172 PCDH15 HLA-A KRT86 OAT BDNF FANCI CRYAA ABCA2 CTDP1 PEX2 PHYH STX1A PRPF8 HGSNAT BTNL2 HLA-B MOCS2 RPS19 AHI1 GALK1 FANCL LIPH NEK9 PLCG2 UBA5 PIGY EPCAM RPL11 MT-ND1 FGF3 SDHB ATAD3A ALMS1 CTNNB1 IL12A PAX2 UFD1 SNRNP200 MAF NEK2 CRYBB2 FBN2 AHR SMC3 WRAP53 RALGAPA1 GJA8 SMC1A GTF2IRD2 GP1BB PCYT1A DNMT1 RP1L1 DYRK1A ANAPC1 SIPA1L3 VPS37D BRF1 CRYAB RAB3GAP1 MT-TS2 PLOD3 KCTD1 USH1G FANCD2 KDSR CAV1 PTH1R BFSP2 PROM1 CRX GTF2I HDAC8 IARS2 ADA2 WRN INTS1 ARL6 AMMECR1 TERT CPAMD8 ANKRD55 MIPEP PEX10 MMP23B RSPO2 CCR1 GEMIN4 MED25 SMCHD1 IDH3B SPTBN1 ARL2 NHP2 WDR81 RTN4IP1 TCTN1 LSS MAN2B1 OCRL COX7B WFS1 MECP2 AIPL1 NUP188 GNPAT COL4A4 ERCC1 TBL2 RFWD3 EP300 NPHP4 KLLN RGR COL9A1 PRPF31 RERE PRPH2 MT-TL1 RPS20 PORCN BBS1 CYP7B1 DKC1 PDZD7 TRAF3IP1 RDH12 ADNP MT-TW RPGRIP1L POMGNT2 SRD5A3 HLA-DRB1 COL18A1 TMEM67 REEP6 TINF2 PHF6 RPL26 HCCS CNGB1 ARHGEF18 COL4A5 DNAJC30 GSN SEMA4A MAB21L2 SALL1 SUMF1 KRT71 ELP4 PDE6A ENTPD1 PNPT1 TXNDC15 ITM2B VCAN SHROOM4 RAD21 ANO10 BRCC3 CHRDL1 SEC24C LMX1B PXDN RPL27 POLR1D CRYBA4 JMJD1C GJB4 TMTC3 MIR204 CYSLTR2 NOTCH2 MAK SEC31A ATP6V1B2 PSMC3 NSUN2 FANCA GNAQ RNF13 RPL15 DHCR7 SETD2 UBE4B MAP2K2 CASK MIR184 PTPN22 KLHL7 LIM2 KRT25 ETFDH TBC1D24 HNRNPA1 MYSM1 LRP2 INVS AP1S1 TDRD7 TTC8 P3H2 GTF2E2 XRCC4 RPL31 USP9X WNT3 TONSL PRPF6 FANCF PRPF4 TBC1D20 TBR1 ARVCF SLC40A1 CTC1 KCNH1 COPB1 FAM161A RREB1 RPS6KA3 RPS17 VSX2 CLRN1 GSR HS2ST1 PITX2 RPS15A LONP1 WDR73 RBPJ WT1 TMEM231 EOGT GTF2IRD1 PTPN2 CRYBA2 TAP2 MEFV RPL35 KLRC4 GDF6 FBXW11 TERC LAMB1 RPL35A LAMB2 DYNC2I1 PRPF3 BMP4 DHDDS SLC16A12 CCDC28B CSPP1 TSR2 APC2 DYNC2I2 PSAT1 ETFA NIPBL PDE6B CRYBA1 CHMP4B PIK3CA ACTB XRCC2 HSF4 MORC2 MT-ND6 ITPA MYMK MT-ND5 USH1C MMP1 RPL5 NOP10 RHOA ALDH6A1 FYCO1 COL4A6 IL12A-AS1 MT-TQ ASPH TKT ALDOB FANCC RP1 BBIP1 MOCS1 RD3 NPM1 CERKL AGBL5 SALL2 GTPBP2 NPHP3 LRP4 WHRN SLC7A14 MAD2L2 MT-CO1 ABCA4 C12orf57 RB1 UNC45B RDH11 ESPN CRYBB3 FAM50A CLN3 LAT2 KCNAB2 NRL MSMO1 RPS7 HTRA2 CDHR1 ZNF513 HNRNPA2B1 TUBB2B HARS1 LIMK1 SKI KCNA4 BAZ1B ABHD12 SIX6 ARHGAP31 KRT81 CEP164 FDXR POLR3A MERTK LIG4 TMEM127 SEC23B RTEL1 CEP57 FIBP CASZ1 PIK3R1 PRDM16 BBS9 USB1 FLI1 PLK4 MT-CYB TSPAN12 RDH5 CD247 CIB2 FKBP6 COL7A1 MYH9 CLDN4 FLNB NPHP1 TRIP13 FANCG MLXIPL PNPLA6 TCTN2 COL9A3 BRIP1 SMG8 GABRD MT-CO3 FANCM PALB2 RIC1 HP_DEVELOPMENTAL_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVELOPMENTAL_CATARACT RPS28 BFSP2 RECQL4 FAM111A RPS15A LONP1 RPL27 MT-TL1 MAFA ADA2 RAB3GAP2 LMNA ERCC8 AGK RPL18 MT-CO2 ERCC1 MPLKIP MT-TV SIL1 MT-TF MIR204 CRYBA2 CRYBB3 VHL MAX RPL35 FAR1 PHGDH RPL35A GFER ALDH18A1 RAB3GAP1 BCOR FAM126A ABCA2 GATA1 CTDP1 SLC33A1 LSS CRYAA SDHB TELO2 SEC31A RAB18 ERCC6 PSMC3 KANSL1 MT-TK ATAD3A DPAGT1 EPHA2 RPL15 TSR2 RPS19 OCRL MSMO1 MAP2K2 WFS1 TARS1 RPS7 NUP188 ETFA MIR184 RNF113A RPS27 MT-TS1 CRYBA1 PAX6 KCNA4 ETFDH PIGY RPL11 MT-ND1 CRYBB1 MT-ND6 VPS4A EPG5 MAF MT-ND5 RPS20 TMEM127 GTF2E2 PEX11B RPL5 COL4A5 PIK3C2A DOCK6 RPL31 CRYBB2 RET ERCC3 GCNT2 COL18A1 ETFB PNPT1 MT-TW GJA8 PEX7 COL4A1 EHMT1 ERCC2 POMT1 NHS MT-CYB MT-TQ HSPG2 RPS29 RPS10 RPS26 TBC1D20 PEX5 COL11A1 SDHD RPL26 ANAPC1 SIPA1L3 CRYGD MIP IARS2 CRYAB MT-TC ENTPD1 NEU1 KCTD1 UBE2A CRYGC MT-TS2 CRYGB RPS17 GTF2H5 MED25 CAV1 RPS24 MT-CO3 RIC1 KIF1B KMT2C MT-CO1 HP_PROPTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROPTOSIS NXN NSD2 A2ML1 TBX1 B3GALT6 CDH11 MYD88 TSHR RIT1 ERF FBN1 HLA-DPA1 FLI1 POR FOXC1 COG4 NDE1 JAG1 TGFB1 KRAS ATXN3 SLC25A24 ESCO2 RAF1 ROR2 TNFRSF11A ALG9 SERPINH1 CRIPT FGFR3 KCNQ1OT1 RTTN ITCH FGFR2 PPP2CA SOX9 SPTBN1 AKT1 BRAF P4HB NAA10 FAM20C GATA5 BANF1 CBL BAP1 MAN2B1 SLX4 SMAD3 CHST3 NELFA WNT5A ASPM SOS2 ZFPM2 WASF1 SLC39A14 FLNB PIK3CA NKX2-5 VANGL2 PSAT1 TCF12 FLT4 PLAGL1 ASXL2 PARS2 NFIX MAFB PEPD SOS1 RFWD3 XYLT1 COL11A1 ERCC4 CKAP2L CRTAP NKX2-6 NF1 PDGFB MUSK RAC3 XRCC2 FIG4 NRAS CTBP1 FGFR1 SMS PLCB3 PTEN PKDCC DVL1 RSPRY1 PCLO VAC14 ZNF699 SPECC1L ZMPSTE24 WDR4 ZIC1 DVL3 SH3PXD2B FGFRL1 LMNA TRAF7 CPLX1 THRB KCNJ6 COL1A1 HLA-DPB1 FANCC HYMAI CLP1 ASXL1 TWIST1 PDGFRB COL11A2 COL3A1 APC COL2A1 IGF2 UBE2T TAF1 HNRNPK SUFU RRAS2 SETBP1 RAD51 MMP2 FN1 CDK5RAP2 LRP4 GATA4 CYP27A1 PIGG TGFB3 DYNC1I2 MAD2L2 RECQL4 LEMD2 GATA6 PTPN11 GNPTAB PRTN3 B3GAT3 TBC1D24 PIGB PRUNE1 BRCA2 TTC37 GDF1 FANCE CDC45 SH3BP2 SMARCB1 LETM1 SLC29A3 POLD1 NIPBL NLRP3 ELMO2 FANCI STAG2 MITF CITED2 CDKN1C FANCA SHPK RRAS AFF4 HERC1 NF2 SMARCE1 FANCL ABCA12 CANT1 GZF1 TGFBR1 BPNT2 KAT6A ALPL PSMB8 NBAS SMO FLNA MYOD1 MTX2 FANCB TERT LRP2 CDON PHGDH KCNQ1 CREBBP RNU4ATAC POLR3GL MRAS MAF SNRPN DDR2 LZTR1 AUTS2 ADAMTS10 NOTCH3 B4GALT7 SHH DPYSL5 DHCR7 MTHFR PTH1R EXOC6B TGFBR2 PLK4 EXTL3 HSPG2 SKI PTPN22 P3H1 FANCF CTSK SOST GJA5 INSR SEC24D FGF9 RASA2 FANCG AP3B2 SLC39A13 PLOD3 FZD2 EP300 BRCA1 EFEMP2 TCTN3 CTLA4 BRIP1 FANCD2 IFT81 FANCM PALB2 BGN RAD51C HP_ALACRIMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALACRIMA GMPPA SETBP1 TRAPPC11 DST PAX1 SOX10 MADD FGF10 ELP1 NGLY1 AAAS SLC12A2 FGFR3 PIGQ FGFR2 CLDN10 HP_SUBCAPSULAR_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBCAPSULAR_CATARACT LRP5 PAX6 ABHD12 FZD4 ARL3 FOXC1 ZNF408 PITX2 ARL2BP UNC45B OFD1 IDH3B RPE65 ALMS1 IMPG2 SPRTN SPATA7 FOXE3 ADAMTS18 CNBP RBP3 POLR3GL NF2 EYS LCA5 LRAT DMPK ABHD5 TULP1 IMPDH1 PDE6A WT1 OAT GJA8 CYP1B1 OPA3 REEP6 TONSL CHMP4B HP_ABNORMALITY_IRIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_IRIS_MORPHOLOGY SF3B1 SDHD MAF NF1 PEX6 GTF2I SIX3 ALX3 ERF SUFU HERC2 FGFR1 KRAS ADGRV1 CPAMD8 VHL FBN1 KANSL1 NDP MBTPS2 MMP23B RSPO2 RERE OVOL2 UROC1 GLI2 SMCHD1 CEP41 ZIC2 TGFB2 SPTBN1 USH2A HPS1 DAG1 CENPF TCTN1 CRYAA SPEN PEX3 RPGRIP1L XYLT2 GPR143 TRIM28 PRKAR1A ZEB2 SDHB PEX10 SIN3A PEX12 VSX1 COX7B CEP78 ARL13B ITPR1 TMEM237 SOX10 NDN INPP5E MC1R TBL2 RFWD3 HEY2 SLC24A5 OCA2 ZNF423 CBY1 ARL3 ERCC4 MYLK PAX6 SNRPN AKT1 SDHC SNAI2 CTBP1 MKS1 CDON RBP4 IGBP1 PRKCZ ACTB PEX16 HHAT SLC45A2 PORCN SHH PEX5 SALL4 PDZD7 TYR FOXH1 BTRC ADNP MYO5A POMGNT2 NOD2 FGFRL1 FOXC1 CPLX1 MED12L MAX TMEM67 PTCH1 NCF1 B9D1 CEP120 HCCS NODAL EDN3 PUF60 COL3A1 DNAJC30 MAB21L2 SALL1 DISP1 PEX19 WT1 KRT71 POU6F2 ELP4 MPDZ FGF8 CHD7 BCL7B OCRL TXNDC15 B4GAT1 CHN1 SMAD4 MDH2 CHRDL1 LMX1B SOX2 PDE4D IMPG2 POLR1D KIAA0586 AHI1 UBE3A TMEM138 CRYBA4 ALG2 BRCA2 C12orf57 MYH11 PTCH2 TCTN2 ELN CYSLTR2 MAGEL2 CYP1B1 NOTCH2 EIF4H COL4A1 KIFBP SOS1 TRIP13 CRYGC B9D2 CRPPA FANCA GNAQ ACTA2 LYST UBE4B POLR1B KIF1B STIL BUD23 CCDC22 CEP290 MIR184 PIBF1 SNORD116-1 DACT1 CLDN3 KRT74 ADAMTSL1 WNT10B KRT25 PIK3R1 ARL6IP6 CC2D2A MITF TMEM216 ZEB1 POMT1 B3GALNT2 FANCB TRAPPC11 IGF1R LRP2 HSPG2 GRHL2 GMPPA PWRN1 PEX2 NAA10 POMGNT1 MKRN3 TONSL SEM1 IMPG1 PWAR1 FKRP FANCF FH CSPP1 POLR1C TBR1 PEX14 GMPPB GDF3 LETM1 TDGF1 EPS15L1 B3GLCT ATP10A SLC25A11 TRIM44 POMT2 VPS13B ATP6V1A DLL1 SDHAF2 PAX3 PMP22 ERCC6 RAB27A WASHC5 BLOC1S5 BRCA1 TMEM270 RXYLT1 STIM1 LRP5 HPS6 PAH VSX2 PDPN MMP2 CLRN1 HS2ST1 RAD51C NSD2 RB1 TFAP2A WDR73 MAFB BCOR TMEM231 GTF2IRD1 BEST1 ARMC9 BAP1 PEX1 FOXE3 TCTN3 PEX26 HYLS1 EDNRB TENM3 LPAR6 LAMB2 POMK YAP1 TGFB3 ATOH7 TCOF1 SLX4 LARGE1 BMP4 NELFA TMEM127 FGFR2 LDHD BLOC1S3 MYO7A ACTG1 PITX2 LOXL1 HPS4 RET CEP104 TGIF1 WNT3 METTL27 ROR1 MAPK1 SEMA3E GJA1 CRYGD SH3TC2 ADAMTSL4 XRCC2 TBX2 EPG5 USH1C LOX GNA11 PTEN MPZ DLST NDUFB11 RHOA HRAS LUZP1 ASPH FANCC RFC2 AP3B1 TP63 TRIM37 ELP1 MLPH DTNBP1 MFAP5 ANK1 AAAS UBE2T NRAS DLX5 RAD51 ARSG SALL2 DCT DDX6 POGZ GAS1 PIGG COL8A2 WHRN MAD2L2 TMEM107 TGFBR2 AMACR KIT PEX11B CLIP2 MYOC AP3D1 FANCE ABHD11 CRYBB1 ESPN ADAMTS17 DLX6 CDH23 PCDH15 PRPH2 RPGRIP1 BDNF TBX22 FANCI FLNA ALG3 LAT2 STX1A KCNAB2 FKTN PNPLA6 COQ2 CPLANE1 MLXIPL FANCL KITLG GJA8 TGFBR1 LIPH GZF1 KATNIP HARS1 LIMK1 SKI MMP14 BLOC1S6 BAZ1B SIX6 C1QTNF5 SMAD2 FGF3 PRKG1 TINF2 GATA1 LTBP2 TYRP1 CRYBB2 CASZ1 PRDM16 MAT2A HPS5 NOTCH3 DHCR7 REST PEX13 FLI1 GTF2IRD2 H19 PCYT1A MSH6 SDHA SMAD3 DYRK1A CIB2 FKBP6 SRD5A3 CLDN4 NPAP1 DIS3L2 VPS37D FANCG MT-TS2 PHOX2B NPHP1 KCTD1 FAM111A GPC3 USH1G BRIP1 FANCD2 GABRD SMO SNORD115-1 FANCM PALB2 HP_ANIRIDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANIRIDIA PAX6 SDHD SDHC TP63 MAFB VHL ITPR1 DLX6 DLST BTRC WT1 FOXE3 REST H19 SEM1 SDHA TRIM28 MAX FH TRIP13 FOXC1 TMEM127 SDHB DIS3L2 LDHD EPS15L1 SLC25A11 PITX2 PORCN TRIM44 DLX5 KIF1B RET SDHAF2 POU6F2 ELP4 FAM111A GPC3 SALL4 BRCA2 CHN1 NF1 WNT10B MDH2 HP_LONG_EYELASHES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_EYELASHES NXN BICRA HDAC8 TENT5A KCNJ8 RPS23 COX5A SLC35C1 DVL1 SOX11 VPS51 ORC1 SPEN ROR2 KMT2A SPOP SRCAP DDB1 SLC3A1 SHOC2 KDM6A DENND5A OTUD6B BMP1 NIPBL KMT2D EGFR VARS1 CAMKMT PACS1 NAA10 SMC3 SEC31A CTCF ATP6V1B2 ABCC9 PNPLA6 ASXL3 PREPL SMARCA2 AFF4 WNT5A KCNK9 HPDL MGAT2 SMARCE1 RUSC2 BRD4 FGF5 FBN1 CNOT2 SHANK3 EP300 ARID1B MADD SLC6A9 MOGS FBXO11 RAC3 RNF2 TBX4 MED27 VPS33A DVL3 FRMD4A CREBBP PPM1B TMCO1 MAN1B1 SMARCC2 HSPG2 KCNK4 MAF SMARCA4 KCNN3 SMC1A ZNF699 SLC25A24 PUF60 DOCK7 MAB21L1 STAG1 ARHGEF2 DPYD KCNH1 CLP1 TAF1 TAF6 BRCA1 MAB21L2 CTDP1 VPS13B AP3B2 FZD2 NOTCH2 EXOC8 SMARCB1 ARID1A RAD21 LTBP3 HP_ANOPHTHALMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANOPHTHALMIA TCTN2 TMEM107 SHH SOX2 SIX3 STRA6 POMT2 TMEM231 SMOC1 KIF11 ERCC8 SEMA3E FKRP HCCS FGFR1 HYLS1 ERCC1 CSPP1 BCOR STIL TCTN3 GLI2 RAX RPGRIP1 SMCHD1 COL4A1 ZIC2 POMK DAG1 OTX2 TCTN1 RARB LARGE1 ERCC6 BMP4 FKTN B9D2 CRPPA NDUFB11 FREM2 PORCN MKS1 NUAK2 KIF7 SIX6 FRAS1 CHD7 TMEM216 GRIP1 FREM1 B3GALNT2 CC2D2A DISP1 DOCK7 FGF8 POMGNT1 RPGRIP1L POMGNT2 TFAP2A TMEM67 B9D1 POMT1 MAB21L2 COX7B NAA10 ERCC4 RXYLT1 FANCB TXNDC15 B4GAT1 RBP4 TMEM237 CEP290 HP_PROGRESSIVE_VISUAL_LOSS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_VISUAL_LOSS OPA1 MT-CYB CFHR1 ARL3 NEU1 RDH11 ATP1A3 CYP4V2 GJB6 GUCY2D SDCCAG8 HMCN1 SH3BP2 SMARCB1 TNFRSF11A DNM1L MT-ND2 CLN3 GUCA1A CDHR1 AKT1 BRAF CLN8 PRPS1 PHYH MT-ND6 NDUFS2 BAP1 CHM CTNNB1 TGFBI GJB2 MT-CO1 CFH AIP PCYT1A PIK3CA NF2 MERTK ATXN7 SMARCE1 CFHR3 TREX1 MT-ATP6 CARS2 SEMA4A MFN2 NPHP4 COL17A1 SMO CEP290 PPT1 CLN5 NF1 SLC25A46 PDGFB MT-ND4 IQCB1 CEP164 RLBP1 TERT LRP2 INVS MEN1 PEX7 RS1 TRIM44 C19orf12 SON MT-CO3 DCN RP1L1 CDH23 CLN6 APOE TRAF3IP1 OAT MT-ND5 DNAJC30 SOST TRAF7 RDH5 WDR19 COL18A1 KIAA1549 FA2H EPRS1 MTTP PRPH2 NPHP1 PNPLA6 UCHL1 SUFU RHO CFAP418 TPP1 RAX2 CFI KARS1 MT-ND4L NPHP3 MT-ND1 IFT140 ZNF408 HP_ABNORMAL_CHORIORETINAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CHORIORETINAL_MORPHOLOGY SIM1 SLC25A15 ZNF408 PEX6 KIF11 CFHR3 SIX3 MAFB BCOR POMT2 GRHL2 TMEM231 FKRP FGFR1 CYP4V2 TMEM237 GUCY2D PEX1 PRPH2 OVOL2 STIL NDP CLDN19 MT-TK TCTN3 GLI2 BEST1 RERE PEX26 CFI DPP6 ZIC2 POMK YAP1 SPTBN1 ACVRL1 DAG1 TCTN1 TMEM216 LARGE1 PEX3 CHM RPGRIP1L BMP4 RPE65 NDUFB11 PEX10 PEX12 VSX1 CSPP1 ADAMTS18 LRAT TMEM67 HADHA SEMA3E CRB1 ZNF423 EFEMP1 PAX6 AKT1 RNF216 INPP5E SHH SALL1 TIMP3 ACTB PEX16 PEX5 MT-TL1 TSC1 HHAT PORCN PTEN LCA5 SALL4 TSC2 NRL MAGEL2 SAG FZD4 WT1 OAT CLCN2 POMGNT2 IKBKG FSCN2 B9D1 MT-TE POMT1 CRX DISP1 PEX19 HLA-DRB1 FGF8 CHD7 OCRL TXNDC15 ZEB2 DCT VCAN B4GAT1 COL8A2 CHN1 RBP4 C12orf57 TMEM107 CFHR2 UBE3B TUBGCP4 TMEM138 PEX11B HCCS EYS HLA-A RPGRIP1 TBX22 GUCA1A COL4A1 VPS13B FKTN B9D2 CRPPA JAG1 ROM1 CASK GZF1 CCDC22 CEP290 MKS1 DHX16 DACT1 CC2D2A SIX6 C1QTNF5 ZEB1 B3GALNT2 MICOS13 CTNNB1 SPATA7 PAX2 CREBBP CFH VPS33A PEX2 NAA10 TUBGCP6 PEX13 LRP5 POMGNT1 TSPAN12 PNPLA6 VPS35L WAC POU3F4 PEX14 TEAD1 GDF3 COX7B NDE1 TCTN2 EP300 WASHC5 RXYLT1 RP2 HP_CHORIORETINAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHORIORETINAL_ATROPHY TSPAN12 ACVRL1 CRB1 SLC25A15 ZNF408 C1QTNF5 FSCN2 CHM TEAD1 PRPH2 RPE65 JAG1 TIMP3 CTNNB1 ROM1 SPATA7 PAX2 CRX CYP4V2 CFH GUCY2D EYS LCA5 LRAT NDE1 NDP NRL SAG FZD4 OAT CFI HADHA LRP5 VCAN GUCA1A EFEMP1 HP_ABNORMAL_EYEBROW_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EYEBROW_MORPHOLOGY TRPS1 CCDC32 SATB1 COLEC10 CCDC47 PUS7 KMT2D BBS1 GJB6 HNRNPK SLC9A6 TCTN3 RERE OBSL1 WDFY3 MBTPS2 KMT2C DOLK MITF RPS6KA3 CEP41 KAT5 BRAF NAA10 ANKRD11 SPEN XYLT2 MAP1B KREMEN1 ZEB2 LRP1 GJB2 SIN3A ASPM TGM1 KCNK9 ZSWIM6 ASXL2 INPP5E EDARADD KCNMA1 ATP6V1B2 MAP2K2 TCTN1 HUWE1 FIG4 TP63 BBS9 CTBP1 PRKCZ ACTB OTUD6B PARN KANK2 SHH KRT83 CDH3 SCAPER STXBP1 NANS VAC14 ZNF699 CEP290 HNRNPU CTCF PHIP DOCK7 PQBP1 LMNA EXT1 MED13 TMEM237 CREBBP CERT1 FOXL2 DSG4 APCDD1 EDN3 ZIC2 OCA2 DPH1 FAM149B1 CLP1 UGDH FBN1 DSP GNS UBE2A NF1 PRRX1 ARID1A JARID2 RECQL4 BICRA ARID2 UBE3B PPP1R21 B3GAT3 ACER3 AHI1 COX5A ZMIZ1 PGAP1 FBXL4 CDC45 KRT17 CDK10 PGAP2 FUCA1 ZNF711 ANTXR1 ARID1B HEPHL1 AEBP1 SOX10 LMX1B PACS1 KIFBP LIPH PACS2 SVBP SMARCA2 CDH11 TMEM94 AFF4 TANC2 APTX FGFR1 MED27 BPTF IDUA ECEL1 BRD4 KAT6A RAI1 GLI2 PPP1CB ABCA5 KRT74 CYFIP2 CC2D2A SETD5 FAR1 ODC1 IGF1R TBX4 SIM1 HSPG2 TBCD EHMT1 SDCCAG8 ERLIN2 SNRPE MAP2K1 ZMPSTE24 SMC1A AUTS2 DISP1 KNL1 RALA ERMARD MAB21L1 KCNN3 STAG1 CFAP418 DOCK3 ADAT3 SUFU KCNH1 CLDN1 VPS13B PAX3 TTC7A EIF5A TWIST2 TRIM32 MN1 CEP19 SMARCB1 PDPN RAF1 CHD1 NMNAT1 SMPD4 BMP2 PIGL POLR3A ARMC9 DEAF1 SLC25A24 ABCC9 KMT2A BBS12 BCOR ALOXE3 SOX18 EDNRB LPAR6 TRIO NPHP1 KDM1A SMC3 STAG2 TMEM216 ALX1 CHST3 NELFA TBCK LRPPRC RAC1 SNAI2 RPL21 BBS5 MBD5 B4GALT7 BBS7 CEP104 MASP1 CEP120 MAPK1 SIX3 MADD TRAPPC9 CUL4B HECW2 RAG1 HS2ST1 RAD21 EDA CWC27 ZBTB20 SON COLEC11 CDKL5 PIGS SLC39A4 PDE6D SPECC1L RAG2 CDC42 LUZP1 TGDS ADAM17 RLIM KDM4B WDR35 GNE ACTL6A MAPK8IP3 PIGW WNT10A FOXP2 TAF1 EBP ATP1A3 SZT2 CCNK CRKL IFT172 HRURF OGT NOTCH2 PSMD12 WAC HR DDX6 PIGG JUP SMAD4 SLC35C1 SHOC2 ITGA3 COX7B GJA1 RMRP MEGF8 KDM6A LETM1 SMARCE1 KRT86 ALOX12B WDR26 TRIP12 CCDC8 WDPCP NEPRO EGFR UQCC2 SLC35A2 DNMT3A CPLANE1 SMARCA4 LAS1L CHSY1 KATNIP RIPK4 IQSEC2 PYCR2 SETBP1 WNT10B TMEM67 RPGRIP1L DPYSL5 OTX2 RIN2 GNPTAB ARX FRMD4A RNU4ATAC VPS33A TYRP1 WRAP53 UROS RALGAPA1 FGF8 SGSH TTC8 RNF125 ADA TMEM231 ANAPC1 BRF1 PCNT LZTR1 EDA2R STRADA PPP2R3C RET TTI2 ABCA12 KMT2E HMGA2 HDAC8 IARS2 GNB2 KCNJ8 ITGB6 KRAS ARL6 INTS1 SLC45A1 AMMECR1 FREM1 MAN1B1 TERT SPOP GPR101 DDB1 MMP23B SF3B4 DNAJC21 CRIPT UBR7 SPTBN1 DCLRE1C DHX30 NHP2 FAM20C BANF1 MAN2B1 NECTIN1 LSS AIP GRIA4 MGAT2 ARL13B NUP188 DCAF17 AIFM1 MC1R ACTL6B SHANK3 EP300 ZNF423 CBY1 ARL3 SYT1 MEIS2 EDAR IL7R LARP7 GUSB ATP1A2 PTPN23 SMS SMARCC2 KCNK4 NFIX WNT4 COL1A2 DKC1 PIGN MKS1 AHSG FGFRL1 SOX6 CPLX1 MED12L TINF2 HPDL ASXL1 PHF6 COL3A1 IL1RAPL1 BCORL1 SUMF1 CDH2 KRT71 HDAC4 BCR CHD7 BBIP1 EPS8L3 POLA1 AGO2 TASP1 CLCN6 TALDO1 LTBP3 PURA LZTFL1 CWF19L1 KIAA0586 CAMK2G RPS23 TMEM138 SOX11 MEF2C AXIN2 ACTG1 WASF1 TCTN2 NECTIN4 SLC29A3 KDM5C NIPBL CUL7 SOS1 PSMC3 NSUN2 SMCHD1 HERC1 FHL1 UBE4B SULT2B1 RUSC2 STIL EDNRA CNOT3 PTPN22 PIBF1 MAGEL2 SCARF2 TCF20 AASS KRT25 PIGK KIF7 ST14 KAT8 SOS2 B9D1 PHF8 GPRASP2 KRT85 ELN LIPN SIAH1 PUF60 RBM10 ZNF462 KATNB1 LEMD3 SLC1A3 ESCO2 CSPP1 ZNF292 CYP4F22 CTC1 TAF6 KIAA0753 LIG4 TRMT1 CSNK2A1 BBS4 TRAPPC4 BBS2 DSC3 FBXW11 NSD2 GAD1 MYT1L DLX4 RPS28 SDR9C7 SPINK5 SLC6A17 NTNG1 FLII TBX3 HYLS1 TERC PIGV TRMT10A HGSNAT IFT27 SLC12A2 FAS ATAD3A NAGLU FBXO31 PIGY EMC10 DPF2 CNOT2 SHMT2 TMCO1 SEMA3E XYLT1 IFT74 IRX5 MAF SETD1B NFIB NOP10 PPP1R15B MED13L YY1 AFF3 PEX6 HBA2 NPM1 SMARCD1 MKKS MED25 GTPBP2 PGAP3 PALS1 C12orf57 TFAP2B SOX4 SMOC1 FGF3 CHRNA7 NRAS NIPAL4 HSPA9 KCNAB2 PNPLA6 ASXL3 TUBGCP2 MLXIPL IL2RG NBAS SKI TRRAP PEX1 MTX2 BCL11B FRAS1 KRT81 MESD COG6 RNF2 UGP2 CDON PIGO OFD1 ALX4 EBF3 RTEL1 CASZ1 PRDM16 NTNG2 KIT HBA1 COL11A1 USB1 FLI1 SLC1A4 CACNA1A VPS35L CDK19 HTT SPATA5 CTU2 TNRC6B KLF13 MAP3K7 GABRD BBS10 HP_SPARSE_AND_THIN_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPARSE_AND_THIN_EYEBROW JUP GJB6 KRT71 ST14 EDAR RPS28 RIN2 HDAC4 GNPTAB LIPH POLR3A FIG4 KMT2D UBE3B ITGA3 TMCO1 SPINK5 ALX4 RNU4ATAC RMRP LPAR6 SNRPE KANK2 WNT10A KRT17 EDARADD MBTPS2 GJB2 BRF1 DSG4 MEGF8 NECTIN4 COL11A1 CRIPT DOLK EDA KDM6A CDH3 KIFBP NAA10 BANF1 KRT74 TP63 APCDD1 CHST3 EBP CLDN1 NECTIN1 LSS B4GALT7 SOX18 HRURF EDNRA DSP TRPS1 RPL21 ANTXR1 NF1 TWIST2 HP_EPICANTHUS_INVERSUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPICANTHUS_INVERSUS COLEC10 FOXL2 MASP1 HUWE1 PPP1R12A DDB1 COLEC11 PEX6 KAT6B SIX2 EBF3 HP_ABNORMALITY_OF_REFRACTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_REFRACTION SF3B1 CCDC32 SATB1 GNB3 CCDC47 HERC2 GATAD2B AGK EIF2S3 ADGRV1 KANSL1 RERE WDFY3 MBTPS2 SMAD4 TSPAN7 ERCC8 PPP2R5D TUB KAT5 BRAF ANKRD11 LCA5 SPEN MAP2K1 XYLT2 TGFBI RPE65 ZEB2 SIN3A FAM111A CEP78 SLITRK6 CSGALNACT1 ADAMTS10 KCNMA1 ALDH18A1 ERCC4 MAP2K2 NSD1 CHST14 MIR140 SNRPN COL2A1 SDHC AKT1 HUWE1 PDE6H PRIMPOL CACNA1F USP7 PRKCZ NDN LOXL3 WDR19 ARCN1 LRPAP1 STXBP1 CTCF ZSWIM6 POMGNT1 PHIP EHMT1 CFAP418 ERCC2 FKRP PQBP1 CTNNB1 ARR3 PAX2 PDE6C NCF1 CREBBP FOXL2 HNRNPK OCA2 OPTN AMMECR1 AEBP1 SLC39A5 PRPS1 KCNV2 FKBP14 COL9A2 FBN1 BCL7B MFRP PRSS56 ADNP JARID2 NEUROD2 BICRA ARID2 UBE3B PPP1R21 B3GAT3 LRIT3 PDE4D COL5A1 ZMIZ1 BRCA2 POMT1 MPLKIP GRK1 CDC45 DMPK PGAP2 SRCAP KIAA1109 SHOC2 ELN ARID1B CYP1B1 CACNA2D4 EIF4H LMX1B B3GALNT2 PACS1 KIDINS220 CRYGC PACS2 NONO NEK1 JAG1 SVBP TMEM94 AFF4 EPHA2 TANC2 FGFR3 MED27 GMPPB BPTF BRD4 TARS1 BUD23 NMNAT1 KAT6A SDHD HTT RPGRIP1 SNORD116-1 CLDN3 SLC39A8 PMM2 SETD5 CLDN11 RHO FANCB HSPG2 LARGE1 BEST1 POLR1C CHM POLR3GL TCF4 PWRN1 FKTN KDM5B PDE6B ERMARD MKRN3 DOCK3 PWAR1 CHST6 ATP6V1E1 CNGB3 TBCE GPR179 GRM6 ARHGEF2 GLE1 POMT2 VPS13B ATP6V1A TYR LAMA1 VSX1 TWIST2 EDEM3 BRCA1 TMEM270 CRB1 PDPN KMT2C RP2 IQSEC2 RAD51C RPL10 TRAPPC11 KIF11 AHDC1 PIGL ALDH3A2 PTEN BAP1 DEAF1 SLC25A24 OVOL2 ATP6AP1 CLDN19 COL4A3 NFIX EMC1 SMC3 FGD1 SLX4 ATP6V0A2 CHST3 GNPTG KMT2B BMP4 BLOC1S3 GNAT2 OPN1LW RRAS2 IFT43 LRAT MC1R MAG EED MYO7A RNF113A METTL27 CBS COL17A1 CRYGD ADAMTSL4 PPP1R12A GNAT1 HS2ST1 MAP3K7 RPGR PUS7 SON RP1 CNGA3 GNA11 LTBP2 P4HTM SYNE1 PLOD1 ERCC3 ABCC6 RAD50 COL4A1 NT5C2 TFAP2A POLR3A LUZP1 GJA1 RLIM DPYD COL9A1 ACTL6A RFC2 MAPK8IP3 TRIM37 ELP1 PIGW UBE2T TAF1 HS6ST2 PIGQ FOXP1 RAD51 ARSG IFT122 OGT FN1 USF3 PSMD12 COL11A1 WAC DDX6 ARID1A RAB11B NOG COX7B CLIP2 SMARCAL1 THOC6 MYOC FANCE RMRP KCNE5 ABHD11 POGZ CRYBB1 SCUBE3 ADAMTS17 SLC6A6 GJC2 CDH23 PIGT PIEZO2 PCDH15 ACOX1 SMARCE1 SLC4A11 OAT COL3A1 IFIH1 FANCI VARS1 CRYAA CENPT STX1A TRIP12 SMARCA4 FANCL GZF1 SOX5 TCTN2 ASXL1 RLBP1 SDHB DPYSL5 KERA POLR3B ATAD3A HACE1 TBC1D23 SLC12A6 MED13 CRYBB2 POMK FBN2 GALNT2 IGF1 CSPP1 SMC1A GTF2IRD2 PCYT1A SKI DYRK1A ATRX TMEM98 CHD4 VPS37D MT-TS2 PLOD3 TUBB4B USH1G FANCD2 PDGFRB WDR35 BFSP2 KMT2E GTF2I HDAC8 B3GALT6 KRAS COL12A1 INTS1 ARL6 NDUFB11 EXOSC2 NYX MMP23B GPR143 DNAJC21 CRIPT ZNF469 USH2A EFL1 MAN2B1 GRIA4 PPM1D COL4A4 P4HA2 CPSF1 CHAMP1 ACTL6B TBL2 SHANK3 HADHA RFWD3 EP300 MSX2 KLLN SYT1 FBXO11 OTUD5 RNU4ATAC ERBB3 SATB2 SLC35A2 PTPN23 SMS MAN1B1 UBR7 BBS1 GLRB COL1A2 PDZD7 MADD TRNT1 TGM5 RAB28 CACNA1G SLC6A8 MED12L COL18A1 LOX RAI1 KIAA0586 EPRS1 PAX6 HPDL SCO2 SMARCC2 COL11A2 PUF60 COL4A5 DNAJC30 BCORL1 KDM4B PITX2 ANTXR1 GTF2H5 AGO2 TASP1 VCAN IFT52 RAD21 CCNQ CHRDL1 CAMK2G CRYBA4 LRRC32 MYO1H PURA WASF1 GPAA1 CYSLTR2 KDM5C NOTCH2 NIPBL SLC25A4 RIN2 NSUN2 FANCA GNAQ DPAGT1 HERC1 SETD2 UBE4B SAG CASK CSTA CANT1 DAG1 MIR184 CNOT3 MAGEL2 TCF20 TFAP2B ADAMTSL1 TBC1D24 ZEB1 KAT8 KRT14 LRP2 PIGU RS1 P3H2 UBE3A AGBL5 GTF2E2 YME1L1 B4GALT7 RBM10 USP9X ZC4H2 TKFC FANCF UCHL1 B3GLCT PRDM5 TRPV4 ERCC6 TRMT1 TRAPPC4 CDK8 FBXW11 CLRN1 SOX11 RORA MYT1L ENPP1 CC2D2A GRHL2 GTF2IRD1 CYP4V2 NTNG1 FLII C1QBP CRYBA2 SLC2A10 PIGG PIGV TRPM1 SLC12A2 PTPN11 CCDC28B APC2 TBC1D7 MBD5 PIGY DPF2 ACSL4 RECQL4 ATP6V1B2 PIK3CA SMARCB1 ZNF148 WDR26 IRX5 XRCC2 CHMP1A TMEM63A USH1C CABP4 PCNT RHOA COL4A6 HK1 SOBP MED13L DSE YY1 FANCC SMARCD1 ELOVL4 FLCN ZNF644 MED25 GTPBP2 COL8A2 WHRN PGAP3 MAD2L2 PALS1 C12orf57 SOX4 AP1B1 MYO5A FGF3 MARK3 NRAS ESPN CLDN16 KCNH1 KRT5 PRMT7 XYLT1 LAT2 KCNAB2 GNPTAB ASXL3 TIMM8A MLXIPL GJA8 TULP1 HARS1 LIMK1 NBAS BCL11B BAZ1B CHD3 NR2F1 RNF2 ADAMTS2 SPATA7 PIGO LAMB2 TTC8 LIG4 EBF3 SEC23B FIBP CASZ1 H1-4 PIK3R1 PRDM16 NTNG2 BBS9 MAF FLNA THG1L CIB2 TRIT1 TEAD1 FKBP6 CLDN4 NPAP1 FANCG OPN1MW TNRC6B COL9A3 BRIP1 SMG8 GABRD SNORD115-1 ATF6 FANCM PALB2 SLC24A1 ZNF408 HP_HYPERMETROPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERMETROPIA RORA FOXL2 GTF2I KIF11 CNOT3 SATB1 GNB3 CCDC47 PIGL HERC2 GTF2IRD1 GATAD2B SLC25A24 KANSL1 ATP6AP1 NYX MMP23B DNAJC21 PIGG SMAD4 PIGV NFIX EMC1 ERCC8 KAT5 LCA5 FGD1 SPEN MAN2B1 CHST3 SIN3A BLOC1S3 MYO7A FAM111A APC2 CEP78 GNAT2 MBD5 RRAS2 IFT43 PPM1D PIGY MAG LAMA1 CSGALNACT1 CHAMP1 METTL27 TBL2 SHANK3 CRB1 GJA1 EP300 MSX2 SYT1 PRSS56 FBXO11 ZNF148 WDR26 OTUD5 PPP1R12A GNAT1 PDE6H CHMP1A SATB2 RERE PRKCZ SON MAN1B1 USH1C NDN CNGA3 CABP4 P4HTM PCNT SYNE1 PLOD1 MADD TGM5 CTCF BEST1 ADNP PHIP RAD50 COL4A1 EHMT1 PQBP1 CTNNB1 SOBP MED13L LUZP1 CACNA1G WDR19 SLC6A8 MED12L YY1 PDE6C KAT8 NCF1 HUWE1 RAI1 CREBBP RFC2 EPRS1 PIGW COL11A2 PUF60 DNAJC30 HNRNPK SRCAP ARSG SNRPN IFT122 OGT FLCN BCL7B MAGEL2 MFRP TASP1 MED25 DDX6 POGZ IFT52 PGAP3 RAB11B NOG BICRA B3GAT3 PDE4D USP9X FGF3 CLIP2 DYRK1A RMRP ABHD11 MARK3 DMPK ESPN PGAP2 SLC6A6 CLDN16 KIAA1109 NSD1 CDH23 SHOC2 PIGT ELN PIEZO2 PCDH15 KDM5C COL3A1 KRT5 CACNA1F CACNA2D4 EIF4H LAT2 CENPT STX1A KCNAB2 KIDINS220 RPGR PACS2 NEK1 ASXL3 SETD2 UBE4B SAG LRIT3 CSTA BUD23 GRM6 NMNAT1 TCTN2 TULP1 RPGRIP1 SNORD116-1 HARS1 LIMK1 CLDN3 NBAS SLC39A8 SKI BCL11B BAZ1B CLDN11 RHO CHD3 KRT14 NR2F1 KERA PIGU RPL10 DPF2 POLR3A ERCC6 RS1 HSPG2 PIGO GRK1 LTBP2 TBC1D23 YME1L1 CASZ1 PRDM16 PWRN1 PDE6B B4GALT7 ERMARD GTF2IRD2 ZC4H2 SETD5 MKRN3 PWAR1 CNGB3 GPR179 TRPM1 WAC CIB2 FKBP6 TMEM98 CLDN4 NPAP1 VPS37D MLXIPL POMT2 TRPV4 ATP6V1A MT-TS2 FKTN TMEM270 TUBB4B USH1G PDGFRB WDR35 GABRD PDPN SNORD115-1 ATF6 CLRN1 SLC24A1 KMT2C IQSEC2 HP_RETINAL_DETACHMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_DETACHMENT CHRDL1 COL11A1 SF3B1 MAF ZNF408 KIF11 IMPG2 BEST1 POMT2 TEK LRP5 NSMCE2 RAI1 BAP1 FKRP DEAF1 CAPN5 DYRK1A ALDH1A3 FLII NDP BCOR CFI CYSLTR2 PRPH2 HLA-A TENM3 IGFBP7 TUB COL4A1 B3GALNT2 POMK YAP1 COL2A1 DAG1 ATOH7 PAX6 LARGE1 XYLT2 FKTN CRPPA RPE65 CYP1B1 GNAQ FAS ZNF469 FBN1 NHS COL9A2 LRAT GZF1 PTPN22 PLOD1 VHL IQSEC2 ADAMTSL1 EFEMP1 CHST14 COL9A1 MIR140 ADAMTSL4 PRDM5 CACNA1F ARL6IP6 SIX6 FZD4 AKT1 POMT1 LRP2 PTEN FRG1 CTNNB1 RS1 SPATA7 PAX2 P3H2 CFH IKBKG CBS LOXL3 GNA11 LCA5 MYOC TUBGCP6 COL18A1 POMGNT1 TSPAN12 POMGNT2 ALG12 LTBP2 IMPG1 DSE XRCC4 GMPPB COL9A3 RXYLT1 VCAN KCNJ13 B4GAT1 HP_OPTIC_DISC_PALLOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_DISC_PALLOR KLC2 ATXN1 NDUFS4 OPA1 CNNM4 B3GALT6 ARL2BP ABCA4 PANK2 IFT172 ACER3 BEST1 PIGB PRPF31 STX3 HK1 NDUFAF4 COX7B PRPS1 PEX1 MT-ATP6 MYOC RBP3 DYRK1A MVK EYS PDE6G CYP27A1 CERKL NDUFS7 LRAT NDUFAF2 NDUFV2 GRID2 PMPCB HLA-A CNGA1 CYP1B1 ERCC8 OPA3 RTTN PRPF4 TUB ITM2B NDUFS1 NDUFB11 RTN4IP1 MSTO1 MFF MAN2B1 NDUFA11 MFN2 DARS1 RPE65 IMPG2 RIMS2 TOR1A FLRT1 DPAGT1 FGF12 MMP19 PISD BLOC1S3 DNM1L MERTK SDHD MT-ND2 NDUFAF5 TULP1 IMPDH1 GNAT1 KCNJ13 MAG PRCD AIFM1 NMNAT1 ARL13B PARS2 OSTM1 HARS1 LYRM7 SNRNP200 CACNA1F NGLY1 ZNF408 C1QTNF5 CLDN11 NDUFS2 INPP5E NDUFAF8 MAK FAM161A ERCC6 MT-ND3 SPATA7 NDUFAF3 UBE3B ESPN NDUFS6 POMGNT1 CLCN7 AIPL1 LCA5 TMEM67 BBS2 ARHGEF18 ELOVL1 TMEM126A NDUFA1 TRNT1 NFIX VPS41 RP1L1 ALMS1 NDUFC2 TUBGCP6 MKS1 COL18A1 TIMMDC1 GFM2 KCNC3 CASK USP45 COL4A1 PROM1 PLK4 FOXRED1 NUBPL NDUFS3 ARHGEF2 KIAA1549 ZNF513 CLN8 NDUFA6 IDH3B SCAPER NDUFB10 NDUFV1 MT-ND1 CFAP418 NR2F1 NDUFB9 AP3B2 AFG3L2 TPI1 PDE6A MFSD8 NDUFS8 EXOC8 NDUFAF1 NDUFB3 SMG8 TASP1 SPG7 TMEM126B CLCC1 HP_EXTERNAL_OPHTHALMOPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXTERNAL_OPHTHALMOPLEGIA POLG2 FA2H RRM2B OPA1 MT-TN MT-TS1 RNASEH1 MT-TL1 TK2 DNA2 MT-ND6 POLG ATXN3 DGUOK BIN1 DNM2 C1QBP GIPC1 SDHAF1 MT-TK NUTM2B-AS1 MTM1 MT-CO2 SLC25A4 MFF MT-TS2 MT-TT HPDL MT-ATP8 MT-ND1 MT-ND5 TWNK MYF6 ATG7 PHOX2A LYRM7 MGME1 MT-TH MT-CO3 RYR1 VARS2 FRG1 ACADS SLC52A3 MT-CO1 TOP3A NDUFAF2 MYF5 SDHB SALL4 SCN4A MT-TF TYMP MTMR14 APTX MT-TQ SDHA MT-TE TUBB3 SLC19A3 MT-TW STIM1 KIF21A MT-ND4 MT-TL2 LRP12 SDHD STUB1 HP_MYOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOPIA COL11A1 BFSP2 GTF2I HDAC8 B3GALT6 GNB3 KRAS FBN1 COL12A1 HERC2 AGK EIF2S3 ARL6 NDUFB11 ADGRV1 EXOSC2 COL4A3 NYX COL2A1 DNAJC21 RERE MBTPS2 CRIPT TSPAN7 ZNF469 TUB KAT5 USH2A EFL1 BRAF ANKRD11 MAN2B1 MAP2K1 XYLT2 TGFBI RPE65 ZEB2 SLITRK6 COL4A4 P4HA2 CPSF1 ADAMTS10 TBL2 HADHA ALDH18A1 OCA2 MAP2K2 MSX2 NSD1 KLLN CHST14 COL9A1 MIR140 SNRPN SDHC AKT1 ERBB3 PDE6H PRIMPOL CACNA1F USP7 TRAPPC11 SMS PTEN HSPG2 NDN LOXL3 BBS1 GLRB COL1A2 WDR19 ARCN1 LRPAP1 PDZD7 MADD TRNT1 RAB28 OAT ZSWIM6 POMGNT1 CFAP418 ERCC2 FKRP ARR3 MED12L PAX2 COL18A1 PDE6C LOX ATP6V0A2 NCF1 HUWE1 KIAA0586 ASXL1 SCO2 SMARCC2 COL11A2 PUF60 COL4A5 DNAJC30 HNRNPK OPTN AMMECR1 AEBP1 SLC39A5 ATP6V1A PRPS1 KCNV2 FKBP14 COL9A2 ANTXR1 BCL7B GTF2H5 VCAN RAD21 CCNQ BICRA ARID2 UBE3B PPP1R21 FANCI CAMK2G LRIT3 COL5A1 CRYBA4 LRRC32 MYO1H PURA POMT1 DYRK1A MPLKIP GRK1 CDC45 GPAA1 POMT2 SHOC2 ELN ARID1B KDM5C CYP1B1 NOTCH2 NIPBL CACNA2D4 SLC25A4 EIF4H B3GALNT2 PACS1 RIN2 VPS13B GPR143 CRYGC PACS2 NONO NSUN2 JAG1 TMEM94 AFF4 HERC1 EPHA2 IFT52 FGFR3 SETD2 GMPPB BPTF SAG CASK BRD4 TARS1 CANT1 BUD23 KAT6A DAG1 SDHD HTT CTNNB1 PLOD1 SNORD116-1 MAGEL2 CLDN3 TFAP2B SOX5 ADAMTSL1 PMM2 TBC1D24 SETD5 RHO LRP2 RPL10 LARGE1 P3H2 UBE3A POLR1C CHM AGBL5 TCF4 GTF2E2 YME1L1 PWRN1 FKTN KDM5B PDE6B RBM10 USP9X MKRN3 TKFC PWAR1 SKI ATP6V1E1 CNGB3 GPR179 GRM6 GLE1 WAC UCHL1 B3GLCT PRDM5 TYR LAMA1 TWIST2 TMEM270 CDK8 SOX11 RP2 NMNAT1 ENPP1 KIF11 AHDC1 GTF2IRD1 ALDH3A2 RAI1 DEAF1 CYP4V2 FLII CLDN19 CRYBA2 FBXW11 SLC2A10 NFIX EMC1 TRPM1 SMC3 BMP4 GNPTG PTPN11 CCDC28B BLOC1S3 APC2 TBC1D7 GNAT2 MBD5 OPN1LW ATAD3A IFT43 LRAT DPF2 MC1R ACSL4 EED MYO7A RNF113A METTL27 CBS TCF20 RECQL4 GJA1 ATP6V1B2 CRYGD PIK3CA SMARCB1 ADAMTSL4 WDR26 IRX5 GNAT1 CHMP1A PPP2R5D TMEM63A RPGR SON RP1 CNGA3 LTBP2 CABP4 LCA5 P4HTM ERCC3 ABCC6 POLR3A RHOA COL4A1 COL4A6 NT5C2 TFAP2A MED13L DSE IFT122 DPYD RFC2 ELP1 TAF1 HS6ST2 SMARCD1 ELOVL4 ZNF644 FN1 USF3 PSMD12 GTPBP2 POGZ WHRN ARID1A C12orf57 SOX4 AP1B1 MYO5A COX7B CLIP2 SMARCAL1 THOC6 MYOC RMRP KCNE5 ABHD11 NRAS CRYBB1 ADAMTS17 GJC2 CLDN16 PIGT ACOX1 KCNH1 SMARCE1 IFIH1 VARS1 XYLT1 CRYAA LAT2 STX1A TIMM8A SMARCA4 GJA8 GZF1 POLR3B TULP1 LIMK1 IQSEC2 NBAS BCL11B BAZ1B SDHB NR2F1 ADAMTS2 SPATA7 HACE1 LAMB2 SLC12A6 TTC8 LIG4 SEC23B CRYBB2 POMK PIK3R1 FBN2 IGF1 CSPP1 MAF SMC1A GTF2IRD2 ATRX THG1L TRIT1 TEAD1 FKBP6 CLDN4 NPAP1 VPS37D MLXIPL OPN1MW PLOD3 COL9A3 WDR35 SNORD115-1 ATF6 SLC24A1 ZNF408 HP_RETINAL_DEGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_DEGENERATION MYT1L KMT2E CCDC32 ARL2BP ABCA4 CTNNB1 CACNA1A WRN ALDH3A2 LMNA ZNF423 SDCCAG8 ARL6 CYP4V2 GUCY2D GUCA1B C1QTNF5 NTNG1 WWOX SYNJ1 WDR19 SPG11 CFI IDUA WDFY3 ERCC8 PRPF4 REEP6 CDH3 TUB CDK19 INPP5E SLC13A5 SLC12A2 RPE65 ABCC6 ZFYVE26 IMPG2 KCNA2 CCDC28B GABRG2 MERTK SUMF1 ATXN7 GRIA4 GNAT2 CFHR3 LRAT CNKSR2 LAMA1 NECAP1 TMEM67 CLTC RNF113A ACTL6B KCNMA1 GABRB2 CELF2 SNRNP200 NTRK2 EFEMP1 CWC27 BEST1 CLN5 GABRA2 TRAK1 HUWE1 PDE6H HS2ST1 HCN1 TIMP3 BPTF RP9 RBP4 MAPKAPK3 RPGR PUS7 PTPN23 SLC1A2 UBR7 CNGA3 BBS1 AIPL1 LCA5 PROM1 APOE NRL BBS4 TRNT1 ERCC3 RP1L1 ALMS1 USP45 CFAP418 ERCC2 PRPH2 FKRP RLIM COL18A1 PDE6C ACTL6A ARV1 MAPK8IP3 HPDL ASXL1 SCAPER CRX POMGNT1 CFH FGF13 BCORL1 ATF6 KDM4B GUCA1A TPP1 TNFRSF11B PSMD12 ATP6V1A KCNV2 CFAP410 FBLN5 RAX2 APOB MFRP GTF2H5 AGO2 RLBP1 VCAN CLCC1 UBA5 ANO10 PALS1 JARID2 PANK2 HSD17B10 AP3B2 DNM1 CFHR1 PRPF31 KCNB1 ZMIZ1 RDH11 HK1 NR2E3 MPLKIP WASF1 GRK1 HMCN1 SLC6A6 MIR204 MMACHC POMK HLA-A TRAF3IP1 CLN3 CDHR1 MAN2B1 PHYH SAG FBN2 IFT172 GABRA5 GNPTAB TRIP12 PNPLA6 SVBP ELOVL4 CYFIP2 PEX7 TANC2 IDH3A PISD CACNA1B MED27 PARS2 BBS2 TOPORS COL2A1 TARS1 IMPDH1 AARS1 POMT2 PRCD SCN3A TULP1 CNOT3 SEMA4A TCF20 ALG6 CP SLC19A2 EEF1A2 RIMS1 PPT1 SIX6 KAT8 DHDDS DPYSL5 GNB5 TTC21B RPGRIP1 CNGB1 GBA XYLT2 SCN8A ERCC6 STXBP1 RS1 HGSNAT SPATA7 PAX2 DDX6 TTC8 SLC7A14 MED13 MTTP GTF2E2 YWHAG CLN6 CNGB3 SYNGAP1 NTNG2 FGF12 FKTN PITPNM3 POMT1 BBS9 MAB21L1 YARS1 STUB1 DHX38 PCYT1A PLK4 DOCK3 PRPF8 XYLT1 RDH5 KIAA1549 POU3F4 GRIN2D LZTFL1 CEP78 PPP3CA CTSD DLAT DRAM2 ARSG OPA1 HTT NUS1 FBLN1 RHO DALRD3 CST3 SH3BP2 TNRC6B SZT2 ASAH1 MCOLN1 TRMT1 TRAPPC4 TUBB4B CEP164 SATB1 FBXW11 LARGE1 KCNJ13 IFT140 MADD NMNAT1 HP_CONE_CONE_ROD_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONE_CONE_ROD_DYSTROPHY GUCY2D CACNA1F NGLY1 CACNA2D4 CNNM4 LZTFL1 SEMA4A RPGRIP1 ALMS1 TTLL5 ATXN7 PROM1 ABCA4 CRX PCYT1A CFAP418 AIPL1 GUCA1A ADAM9 KCNV2 PDE6C POC1B RAB28 PITPNM3 PDE6H RAX2 SLC19A2 RIMS1 HP_ABNORMAL_CONJUGATE_EYE_MOVEMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CONJUGATE_EYE_MOVEMENT SARDH ATR A2ML1 CCDC32 LEMD3 GNB3 ALX3 SUFU ADGRG1 HERC2 SLC18A3 GATAD2B ERCC8 AGK EIF2S3 KMT2D CAMK2B DPM1 VPS51 TUBGCP6 SLC9A6 KANSL1 ABHD5 GNAS TCTN3 RERE GRID2 WDFY3 OPA1 GLI2 KCNMA1 PPP2R5D STRADA DHCR24 CEP41 KAT5 BRAF FGF14 TYRP1 CACNA1B GATA1 ANKRD11 CBL SPEN VCP SMAD3 PUS3 RPE65 ZEB2 NEXMIF CHRNE CDK13 SIN3A SOS2 ZSWIM6 VLDLR MYO9A MDH2 COG8 FGFR3 PLXND1 INPP5E KCNA1 NXN ACKR3 TUBB3 SOS1 SPG11 RPS27 ALDH18A1 PHOX2B ERCC4 MAP2K2 TWNK CHST14 SREBF1 PAX6 SNRPN SLC25A46 TCTN1 NGLY1 AKT1 PROKR2 HUWE1 NRAS ZIC2 CTBP1 CDON USP7 PRKCZ CDKL5 ERMARD NDUFAF3 PEX6 CYB5R3 SUCLG1 NDN CCDC174 NALCN SALL4 RSPRY1 CDH3 STXBP1 NANS RP1L1 NAGA HNRNPU CTCF ROR2 ABCB7 TRIP11 POMGNT1 PHIP HOXA1 SYNE1 MED12 AHCY MAPK8IP3 TACO1 ERCC2 MTOR EXT2 PQBP1 CTNNB1 CA8 SIK1 RPS29 MED13 PAX2 RPS10 PTCH1 OSGEP NCF1 KIF14 TMEM237 FA2H CREBBP FOXL2 ELOVL4 TGFBI TWIST1 KIF15 GBA MT-ND1 RRAS2 FAM149B1 AMMECR1 CLP1 SOX3 DNMT3A AEBP1 ZIC1 DNMBP KCNV2 DHODH COG5 SLC25A1 CD96 UBE2A NDUFS8 COL6A3 BCL7B PRSS56 RPS24 PLA2G6 ATM CHN1 ADNP JARID2 NEUROD2 TBL1XR1 CCDC88C DMXL2 BICRA ARID2 UBE3B PPP1R21 NTNG2 B3GAT3 TUBB2B LRIT3 AHI1 COMT ALG11 PDE4D ZMIZ1 ALG2 DVL1 ATRX BRCA2 FOXE3 MACF1 CEP152 FGFR2 POMT1 RECQL4 MPLKIP KDM5C GRK1 CDC45 PTCH2 PGAP2 SIL1 SRCAP WDR81 KIAA1109 NSD1 CHAT ANTXR1 PET100 SHOC2 ELN KIF22 ARID1B MAGEL2 COL4A2 GRM1 SLC38A8 CACNA2D4 GLI1 TANGO2 EIF4H LMX1B NDUFA12 PACS1 HRAS NDUFS2 HLA-DQB1 RRM2B NDUFS3 KIDINS220 INPP5K PACS2 NONO JAG1 SVBP AP1S2 RRAS CDH11 TOR1A TMEM94 AFF4 TANC2 LYST NHS DNM1L MED27 GMPPB SYNJ1 POLR1B CENPJ BRD4 TARS1 BUD23 NKX6-2 KAT6A NDUFA13 ATG7 DGUOK HIRA CYP1B1 SNORD116-1 DLK1 DACT1 CLDN3 HNRNPH2 KRT74 SLC39A8 FLNA PMM2 TBX1 CC2D2A SETD5 APC CLDN11 FIG4 RHO GJC2 ACOX2 FANCB IGF1R TBX4 SIM1 HSPG2 DLL4 EXOSC3 LARGE1 TBX15 TCF4 ADPRS GMPPA MAP2K1 CAMTA1 TMEM126A C9orf72 NDUFS4 PWRN1 FKTN KDM5B AUTS2 PDE6B DPYSL5 FANCE CASK GFPT1 MAB21L1 SATB2 STAG1 MKRN3 DOCK3 PWAR1 FKRP ATP8A2 ADAT3 ATP6V1E1 GPR179 PIK3R5 ARHGEF2 NOTCH1 YARS2 AHDC1 POLR1C ATP13A2 AP4M1 LMNB1 VPS13B POMT2 PAX3 SCN4A TYR LAMA1 EDEM3 BRCA1 TMEM270 CRB1 NDUFV1 EXOC8 SLC6A19 SATB1 MN1 DPP6 PDPN ECHS1 SUCLA2 IQSEC2 HMGB3 NMNAT1 RAD51C RPS28 GJB6 RPL10 TRAPPC11 FUS HIBCH RIT1 PIGL POR ARMC9 RPL18 DEAF1 POU4F1 DYNC2LI1 PHF21A RAF1 TCF12 OVOL2 SIGMAR1 CHRNG BEST1 CAMK2A TRIP12 PIGQ LPAR6 EMC1 CLCN4 FANCA ADSL KDM1A YAP1 NDUFS1 ERLIN2 HOXB1 VAMP1 NSDHL ATOH7 TCOF1 FGD1 TELO2 TMEM216 SLX4 CHST3 NELFA GNB1 LRPPRC B3GALNT2 NCDN BLOC1S3 HPDL TARDBP L2HGDH LRAT FGFR1 RNF135 MID2 CEP104 TGIF1 MC1R TMEM67 EZH2 RNF113A METTL27 CEP120 CLDN19 MADD MAP3K7 PSMD12 SH3TC2 FOXC1 PEX14 HECW2 CACNA1G PPP1R12A GNAT1 HS2ST1 PEX26 ZC4H2 SEC23A PUS7 TRAPPC6B SON PTEN TUBGCP4 ATP2B3 P4HTM MPDU1 PLOD1 ALG6 DOCK6 NFIX ERCC3 PDE6D XPA MYF5 TBK1 SPECC1L DPAGT1 KCNC3 COL4A1 TFAP2A CDC42 POLR3A LUZP1 AGTPBP1 RLIM IKBKG RPS26 OCA2 DPYD ACTL6A RFC2 AP3B1 TRIM37 PIGW XPC UBE2T TAF1 ATP1A3 CYB5A DDB2 ROBO3 FOXP1 ALG9 RAD51 FBN1 FOXG1 TET3 BCORL1 FN1 NEU1 CPLANE1 WAC RBM8A NDUFAF1 PDHA1 SQSTM1 MAPT DDX6 SLC25A22 PIGG ARID1A GTF2E2 NDP RAB11B PEX1 NOG DHX37 SMAD4 SLC35C1 CLIP2 EVC MRPS34 SCN2A CSPP1 RMRP KCNE5 ABHD11 POGZ SCUBE3 SCN8A MTFMT SNAP25 OPHN1 MYH3 PIGT KDM6A LETM1 PIEZO2 DCC ACOX1 SMARCE1 SYT1 BCAP31 HESX1 FANCI DDHD2 NDUFAF6 RET WDR26 PEX2 STX1A SETX HSPD1 COL12A1 EP300 GRIA4 NDUFA10 FANCD2 PEX5 RPS19 NDUFV2 SMARCA4 FANCL MTRFR LIPH ACADSB GRM6 DDOST ACO2 SOX5 KATNIP ASXL1 WARS2 ANKRD17 PHOX2A ERCC6 PYCR2 YY1 PIGY RPL11 SBF1 RPGRIP1L CLTCL1 NDUFAF8 DCTN1 ATAD3A OTX2 ARX MT-ND3 HACE1 TBC1D23 SLC12A6 FRMD4A NDUFS6 UFD1 TRIO MRAS ATXN1 DCN POMK SMC3 LZTR1 GALNT2 HPS5 ALS2 SLC25A24 SMC1A GTF2IRD2 TGFBR2 RNASEH1 GP1BB METTL5 PCYT1A CLTRN FMR1 SKI DYRK1A POU3F4 SOST COL11A1 GNAQ TMEM98 TMEM231 DLAT VPS37D BRF1 RAB39B CTDP1 PHGDH PRNP DLG4 MCOLN1 NPHP1 TTI2 NDUFAF2 SPG7 TREX1 KMT2E EXOSC1 SURF1 RTL1 GTF2I HDAC8 IARS2 GNB2 ARNT2 ERF ADA2 KRAS INTS1 ARL6 NDUFB11 MAN1B1 GALC EXOSC2 NYX PEX10 DDB1 MMP23B BPTF MCTP2 PEX3 CRIPT MED25 AP4S1 FCSK SPTBN1 DHX30 CRYAA ALG1 MAN2B1 SGPL1 NAXE PRKAR1A VSX1 WASF1 ARL13B PPM1D SLC16A2 DDX3X CHAMP1 ACTL6B PIGP TBL2 SHANK3 HADHA RFWD3 NEDD4L ZNF423 CBY1 ARL3 NF1 FBXO11 OTUD5 LARP7 ATP1A2 SLC35A2 PYROXD1 PTPN23 RPS20 UBR7 HHAT PORCN NPC1 BBS1 GGT1 SSR4 GLRB COL1A2 FOXH1 CEP83 SPATA5 PIGN MKS1 UNC80 COL13A1 FARS2 FGFRL1 DPM2 LIPT1 SLC19A3 FOXRED1 SLC6A8 CPLX1 MED12L COL18A1 ATP6V0A2 KIAA0586 RPL26 NODAL SMARCC2 COL11A2 PUF60 DNAJC30 IL1RAPL1 MAB21L2 SALL1 SYT2 NRXN1 NPC2 CDH2 KDM4B NDUFB9 KRT71 ATP6V1A MPDZ CHD7 DAB1 OCRL GTF2H5 AGO2 PTPN11 TASP1 CLCN6 SHROOM4 RAD21 SLC2A1 SEC24C L1CAM SLC9A7 RPL27 POLR1D TRIM8 TMEM138 GMNN EIF2AK3 NDUFAF4 JMJD1C LRRC32 MYO1H MEF2C PRPS1 ORC1 TLK2 ERCC1 ERCC5 NUBPL TCTN2 PEX16 TMEM240 UBR1 EFNB1 NIPBL SLC25A4 ZBTB16 PNKP GPR143 PBX1 COX15 PSMC3 NSUN2 ZDHHC9 SOX2 UBE3A RPL15 IDH3A DHCR7 SETD2 UBE4B TBCD SAG MT-ND2 NDUFAF5 CDCA7 KCNJ13 CEP290 CNOT3 FRMPD4 PIBF1 TCF20 TFAP2B AASS NDUFS7 KRT25 SLC17A5 MYOD1 FGF10 LGI4 TBC1D24 KIF7 ZEB1 KAT8 AP4B1 PIGU B9D1 SCO2 EVC2 TBCK GNA14 KMT2A YME1L1 RPL31 NDUFA1 ASCL1 POLG SIAH1 USP9X SDHA TKFC ALX4 MED13L IRF2BPL FANCF SLC1A3 MEG3 ZNF292 ARVCF TDGF1 PSAP GDF5 KIAA0753 DLL1 RREB1 NOP56 REV3L FZD2 TRMT1 RPS6KA3 BLOC1S5 TRAPPC4 RPS17 CDK8 SLC5A7 FBXW11 HPS6 KIF21A SOX11 COL6A1 NSD2 FIBP RORA MYT1L THOC2 PITX2 RPS15A WDR73 ARHGAP31 MAFB RBPJ GRHL2 CHRNA7 EOGT GRIN1 CCNQ GTF2IRD1 RAI1 CHCHD10 SIX3 NTNG1 FLII GATA4 RPL35 HYLS1 SLC2A10 TENM3 PIGV RPL35A COL6A2 LONP1 POLR2A BCOR FBXL3 TRPM1 FANCC SCN1B SLC12A2 AP4E1 ABCC8 WNT5A CCDC28B ADARB1 TSR2 APC2 MBD5 VPS13A NDUFA2 DPF2 ACSL4 LBR SHMT2 TMCO1 MCM3AP BRPF1 SEMA3E LYRM7 GJA1 FGF8 ATP6V1B2 SMARCB1 PEX11B NHLRC2 LARS2 GNAO1 XRCC2 CHMP1A CABP4 NUP133 RPL5 LCA5 RHOA WT1 ALDH4A1 HK1 SOBP DSE SPOP SHH AFF3 NDUFA6 NDUFB10 COL2A1 PAH PRSS12 GK SMARCD1 SALL2 PRMT7 ADD3 GAS1 COL8A2 PGAP3 PEX13 MAD2L2 SLC44A1 PALS1 SOX4 TAF2 HOXA13 PEX12 COLEC11 MYO5A FGF3 PAK1 SNIP1 SPTBN2 GGCX DLG3 CACNA1A CLDN16 FTL FAM50A TRAF3IP1 CACNA1F NDUFA9 NCAPG2 PURA ALG3 LAT2 COQ8A KCNAB2 MFRP AGRN NDUFA11 PEX19 ASXL3 MLXIPL RPS7 TGFBR1 BCL11A LIMK1 NBAS TWIST2 KDM6B BAZ1B HSD17B4 CHD3 NDUFA4 NR2F1 CACNA2D2 RNF2 SPATA7 PIGO LAMB2 GLRX5 DVL3 OFD1 LIG4 EBF3 CASZ1 H1-4 PRDM16 PTRH2 BBS9 TIMMDC1 VPS53 FLI1 ALG12 THG1L DKC1 TRIT1 FKBP6 CLDN4 RASA2 NPAP1 HTT FANCG PNPLA6 PLK4 TNRC6B DISP1 KLF13 NDUFB3 BRIP1 SMG8 GABRD TMEM126B LAGE3 SNORD115-1 FANCM PALB2 RIC1 SLC24A1 TSEN15 HP_UNDETECTABLE_ELECTRORETINOGRAM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNDETECTABLE_ELECTRORETINOGRAM CRB1 HSD17B4 CRX MYO7A LCA5 CLN8 RPE65 FLVCR1 SPATA7 NR2E3 POMGNT1 EYS LRAT TPP1 TULP1 NRL PDE6D PRCD USH1C RPGRIP1 CLN3 PROM1 CLCC1 NMNAT1 KIZ PPT1 HP_COLOR_VISION_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLOR_VISION_DEFECT FGFR1 CNNM4 IMPG2 GNB3 HS6ST1 ATF6 TK2 DRAM2 SEMA3A BEST1 RLBP1 CNGA3 NR2E3 TIMM8A GUCY2D CACNA2D4 OPA1 POLG OPN1SW NYX ANOS1 AIPL1 DNM1L IL17RD ABCA4 PRPH2 CACNA1F DCC NMNAT1 TLCD3B PROKR2 GUCA1A CDHR1 RAX2 RTN4IP1 RPGR FLRT3 PROM1 RPE65 ELOVL4 PINK1 CNGB3 PRKN GNAT2 OPN1LW PODXL SAG IMPG1 LRIT3 FGF8 MTRFR LRAT CHD7 GRM6 PDE6C TULP1 SNCA MFN2 SOX10 POC1B NBAS LRRK2 UCHL1 RIMS1 C1QTNF5 RHO DUSP6 TACR3 CCDC141 MORC2 GNAT1 PDE6H NDNF CABP4 RPGRIP1 SPATA7 PITPNM3 GRK1 FGF17 CYP4V2 CRX OPN1MW DNAJC6 WDR11 LCA5 ADAM9 TMEM126A CFAP418 PDE6B VPS13C UNC119 HTRA2 CFAP410 TTLL5 ACO2 GPR179 FGF14 TRPM1 FA2H CEP78 OFD1 MTTP SEMA4A FEZF1 PROK2 AFG3L2 PARK7 HESX1 OPA3 SPRY4 SLC24A1 RAB28 SYNJ1 HP_TRITANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRITANOMALY OPA1 OPN1SW OPA3 C1QTNF5 NR2E3 GUCY2D DNM1L HP_ABNORMAL_UVEA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_UVEA_MORPHOLOGY SF3B1 SDHD SLC25A15 NF1 ALX3 SUFU HERC2 ERCC8 ADGRV1 AGXT KANSL1 NDP MT-TK RERE OVOL2 MBTPS2 GLI2 CEP41 HPS1 DAG1 CENPF SPEN PEX3 XYLT2 KRAS RPE65 ABCC6 ZEB2 SIN3A PEX12 CEP78 ITPR1 INPP5E SLC24A5 ERCC4 MYLK PAX6 SNRPN TCTN1 AKT1 SDHC SNAI2 IL2RB ZIC2 CTBP1 MKS1 CDON RBP4 PRKCZ ACTB NDN SHH PEX5 SALL4 NRL TYR FZD4 BTRC MYO5A NOD2 MAX PTCH1 NCF1 TMEM237 B9D1 MT-TE EDN3 OCA2 PEX19 WT1 POU6F2 HLA-DRB1 PROM1 BCL7B PRSS56 B4GAT1 CHN1 SMAD4 MDH2 UBE3B AHI1 UBE3A ALG2 BRCA2 C12orf57 PTCH2 ELN MAGEL2 CYP1B1 SOX10 EIF4H COL4A1 KIFBP TRIP13 CRYGC PTPN22 B9D2 CRPPA JAG1 ELOVL4 EPHA2 LYST FGFR1 POLR1B CD27 KIF1B BUD23 NLRP3 FBN1 DHX16 HHAT SNORD116-1 MIF DACT1 CLDN3 KRT74 PTPN2 CC2D2A MITF TMEM216 FANCB IGF1R HSPG2 GMPPA PWRN1 NAA10 TUBGCP6 DISP1 IL6 LRP5 POMGNT1 MKRN3 PWAR1 FKRP XYLT1 FH POLR1C GDF3 FOXC1 EPS15L1 TRIM44 POMT2 VPS13B ATP6V1A PAX3 FAS RAB27A BRCA1 TMEM270 CRB1 RXYLT1 STIM1 BCL10 PRPH2 PDPN RP2 CEP290 RAD51C RB1 SIM1 ZNF408 KIF11 BEST1 ARMC9 BAP1 PEX1 CLDN19 BCOR TCTN3 PEX26 CFI EDNRB LPAR6 IL2RA IDS YAP1 ATOH7 TCOF1 SLX4 LARGE1 TKT NELFA TMEM127 FGFR2 BLOC1S3 ADAMTS18 LOXL1 LRAT RET CEP104 TGIF1 MC1R MYO7A METTL27 CEP120 MAPK1 SIX3 CRYGD EFEMP1 SH3TC2 ADAMTSL4 EPG5 LOX GNA11 PTEN MPZ NDUFB11 TFAP2A LUZP1 GJA1 IKBKG RFC2 AP3B1 TRIM37 ELP1 AIRE ANK1 AAAS UBE2T B3GLCT STAT4 DLX5 RAD51 ARSG PDE4D TMEM67 DCT DDX6 PIGG CD247 TMEM107 TGFBR2 CFHR2 ENPP1 KIT CFHR1 HCCS RASGRP1 CLIP2 MYOC AP3D1 FANCE ABHD11 POGZ EYS CRYBB1 ADAMTS17 CDH23 LETM1 PCDH15 CASP10 HLA-A OAT BDNF FANCI GUCA1A CRYAA STX1A FBN2 BTNL2 COQ2 SLC45A2 CPLANE1 FANCL TGFBR1 LIPH GZF1 KATNIP PDCD10 ERCC6 LACC1 MMP14 BLOC1S6 SMAD2 RPGRIP1L FGF3 RLBP1 TP63 PRKG1 CTNNB1 TINF2 PAX2 LTBP2 VPS33A TYRP1 CRYBB2 POMK CNGB3 MAT2A HPS5 REST FGF8 GTF2IRD2 STUB1 PCYT1A SDHA PNPLA6 SMAD3 DYRK1A POU3F4 GNAQ TMEM98 TMEM231 BLM VPS37D KRIT1 FASLG MT-TS2 PHOX2B NPHP1 KCTD1 FAM111A USH1G FANCD2 MAF PEX6 GTF2I ERF GUCY2D CPAMD8 VHL ANKRD55 MMP23B RSPO2 TNFAIP3 UROC1 SMCHD1 DPP6 TGFB2 SPTBN1 USH2A CHM GPR143 TRIM28 PRKAR1A SDHB PEX10 VSX1 COX7B ARL13B CFHR3 TBL2 HADHA RFWD3 HEY2 ZNF423 CBY1 ARL3 RNF216 IGBP1 PEX16 MT-TL1 TSC1 PORCN TSC2 PDZD7 SAG FOXH1 CCM2 ADNP CLCN2 POMGNT2 FGFRL1 CPLX1 MED12L FSCN2 NODAL PUF60 COL3A1 DNAJC30 CRX MAB21L2 SALL1 KRT71 ELP4 MPDZ FBLN5 CHD7 OCRL TXNDC15 VCAN CHRDL1 LMX1B SOX2 IMPG2 POLR1D KIAA0586 TMEM138 CRYBA4 ERCC1 MYH11 BIRC3 TCTN2 CYSLTR2 NOTCH2 SOS1 FANCA ACTA2 UBE4B CASK STIL CCDC22 MIR184 PIBF1 ADAMTSL1 WNT10B KRT25 PIK3R1 ARL6IP6 ZEB1 POMT1 MALT1 B3GALNT2 TRAPPC11 LRP2 MICOS13 CREBBP CFH CYP4V2 GRHL2 LRBA PEX2 TONSL SEM1 IMPG1 FANCF CSPP1 CLCNKB WAC TBR1 PEX14 GMPPB TDGF1 ATP10A SLC25A11 DLL1 SDHAF2 PMP22 EP300 WASHC5 BLOC1S5 HLA-B HPS6 PAH VSX2 MMP2 CLRN1 HS2ST1 NSD2 WDR73 MAFB GTF2IRD1 FOXE3 HYLS1 TENM3 LAMB2 ACVRL1 TGFB3 BMP4 DNASE1L3 LDHD GPR35 NLRP1 ACTG1 PITX2 HPS4 WNT3 ROR1 SEMA3E XRCC2 TBX2 TCF4 TIMP3 MAPKAPK3 USH1C LCA5 APOE DLST RHOA HRAS ASPH FANCC MLPH SEMA4D DTNBP1 MFAP5 NRAS SALL2 GAS1 COL8A2 WHRN MAD2L2 TUBGCP4 AMACR PEX11B CAPN5 ESPN HMCN1 DLX6 RPGRIP1 TBX22 FLNA ALG3 LAT2 KCNAB2 MFRP ABCA4 FKTN ROM1 MLXIPL KITLG GJA8 HARS1 LIMK1 SKI BAZ1B SIX6 C1QTNF5 SPATA7 GATA1 CASZ1 PRDM16 MST1 NOTCH3 DHCR7 PEX13 FLI1 H19 MSH6 FOXP1 PRKCD TSPAN12 VPS35L CIB2 TEAD1 FKBP6 SRD5A3 CLDN4 NPAP1 DIS3L2 FANCG FBLN1 NDE1 GPC3 BRIP1 GABRD SMO SNORD115-1 FANCM PALB2 TNFRSF1A HP_UVEITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UVEITIS PTPN2 MALT1 IL2RB NLRP3 TCF4 ERCC8 ANKRD55 CAPN5 RASGRP1 ERCC1 IKBKG BIRC3 HLA-DRB1 LRBA MST1 IL6 TNFAIP3 CASP10 MBTPS2 IL2RA STUB1 NOD2 FAS STAT4 FOXP1 PRKCD TKT ATOH7 CD247 PTPN22 ERCC6 SEMA4D BTNL2 AIRE BLM DNASE1L3 GPR35 NLRP1 FASLG CD27 ERCC4 HLA-B BCL10 MIF LACC1 TNFRSF1A HP_RETINAL_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_DYSTROPHY RNU4ATAC COQ2 CEP290 ARL2BP GNB3 CFAP221 GRN CRB1 KIF5A PEX1 ARL6 USH2A RBP3 TMEM67 INPP5E C1QTNF5 PDE6G LRAT EXOSC2 NYX MT-TK WDR19 DNAJC21 PDZD7 PRPH2 ADGRV1 ERCC8 TUB CRX PDE6B CEP41 HMX1 ARL2 PRPS1 DAG1 DNAJB13 IMPG2 MT-ND1 MERTK BBS12 MDH2 MT-ND4 IMPG1 PDE6C ODAD1 SDCCAG8 BCS1L RSPH3 NPHP4 ZNF423 CWC27 BBS10 MT-ND2 NGLY1 ZNF408 MYO7A CCDC39 RNF216 RBP4 MT-TL1 DYNC2I2 MYO6 BBS1 BBS2 NRL BBS4 PEX3 CDH3 SAG CLRN1 TRAF3IP1 RAB28 ALMS1 DNAH11 CFAP418 HSPD1 POMGNT2 SRD5A3 GAS8 FSCN2 KIAA0586 IDH3B MT-TE RHO PEX2 EFEMP1 KCNV2 CFAP410 PEX6 NEK2 PDE6A MFSD8 RGR RPGRIP1L DNAH5 RPGR APOB MFRP B4GAT1 PRPF3 PRPF6 PEX5 CCNQ ARL3 GATA3 UBE3B MKS1 DHDDS LRIT3 TMEM138 PEX7 MT-ND5 RSPH4A DNAAF2 NR2E3 PGAP1 GRK1 CERKL DNAH9 IQCB1 AHR CACNA2D4 DNAAF4 RLBP1 COL4A1 ITM2B TTC12 PANK2 MKKS VPS13B OTX2 CRPPA NEK1 DPAGT1 CCDC65 TOPORS TULP1 DNAI1 RDH11 NEK10 SEMA4A FDXR RIMS1 PMM2 B3GALNT2 FGFR2 LRP2 RPL10 INVS FAM161A CNGB1 HGSNAT EXOSC3 CREBBP CFH SLC7A14 ODAD3 ELOVL4 PITPNM3 TUBGCP6 DNAAF3 PEX12 POMGNT1 PEX16 GPR179 GRM6 CACNA1F OFD1 MTTP CNGA1 DRAM2 PNPLA6 PEX26 COX7B RDH5 PGK1 BBS5 ARMC9 ADAM9 LAMA1 USH1C EP300 RPE65 PDE6H RXYLT1 NPHP1 LRRC56 RP2 CC2D2A CNNM4 NDUFA9 ABCA4 BEST1 POMT2 ODAD2 FLVCR1 KIF11 FKRP AHI1 MT-ATP6 TMEM237 GUCA1B BBS7 ASPA CFI PRPF4 REEP6 POMK WHRN MT-ND3 ACOX1 TRPM1 TELO2 TMEM216 LARGE1 BMP4 TRNT1 NDUFB11 CCNO CCDC28B DRC1 SYCE1 GNAT1 ROM1 SLC19A2 CHST6 WARS2 TIMP3 CEP120 CLDN19 TRAPPC9 SNRNP200 SH3TC2 SPEF2 PEX10 ACBD5 CABP4 RP9 MAPKAPK3 VPS4A RP1 PCARE RP1L1 AIPL1 MT-TW POC1B PCDH15 HK1 POMT1 MVK TTC8 IFT122 RCBTB1 PEX14 RSPH1 ATXN2 ANK1 BBIP1 GUCA1A NME8 ARV1 PEX13 RAX2 ODAD4 CIB2 NPHP3 DNAAF11 CFAP298 KLHL7 POGZ HYDIN KIZ HSD17B10 ZPR1 PEX19 IFT172 DNAH1 PRPF31 MYO5A HCCS KIF3B EYS GGCX SH2B1 MCIDAS CLN3 CDHR1 GUCY2D PHYH DNAAF1 DDR2 FKTN CFAP300 PROM1 ATXN7 SLC35A2 FOXJ1 PCYT1A SPAG1 IFT140 IMPDH1 ZMYND10 ACO2 PRCD DNAL1 ALG6 PEX11B GAS2L2 ABHD12 SIX6 CEP164 DNAI2 MAK RPGRIP1 TTLL5 ERCC6 DNAAF6 HACE1 CDH23 IFT74 IFT27 RSPH9 BBS9 CCDC40 CCDC103 CSPP1 MT-ND6 DHX38 RDH12 PRPF8 ZNF513 LZTFL1 CTSD DNAAF5 TMEM231 CRYAB MT-TV SLC24A1 AP3B2 USH1G PPP2R3C RNF113A STK36 HP_BUPHTHALMOS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BUPHTHALMOS PTEN POMT2 CYP1B1 AKT1 PXDN ATOH7 DAG1 FKTN POMT1 FGFR2 TWIST1 GNAQ OCRL MAB21L1 LARGE1 SH3PXD2B POMGNT1 FKRP GLIS3 FUT8 ADAMTSL1 NCAPG2 HP_RIEGER_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIEGER_ANOMALY CPLX1 NSD2 PIK3R1 CTBP1 FGFRL1 FOXC1 IGF1R PAX6 PITX2 ADAMTSL1 LETM1 HP_CORNEAL_SCARRING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORNEAL_SCARRING PRDM5 DST NGLY1 TGFBI GJB2 NTRK1 COL7A1 UROS POLA1 ZNF469 PRDM12 EP300 COL17A1 CREBBP MMP1 NCAPG2 HP_LACRIMAL_DUCT_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACRIMAL_DUCT_ATRESIA TP63 IGSF3 NDUFB11 PAX3 SMCHD1 HP_CHORIORETINAL_COLOBOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHORIORETINAL_COLOBOMA C12orf57 CC2D2A SIX6 SHH AKT1 INPP5E SIX3 MAFB BCOR TMEM138 SALL1 ACTB FGFR1 TMEM237 HHAT PORCN PTEN SALL4 STIL CLDN19 GLI2 NAA10 RERE DISP1 PAX6 FGF8 TBX22 ZIC2 YAP1 SPTBN1 TMEM216 VPS35L WAC RPGRIP1L BMP4 GDF3 TMEM231 TMEM67 CASK GZF1 CCDC22 CEP290 WASHC5 CHD7 SEMA3E ZEB2 DACT1 ZNF423 CHN1 RBP4 HP_ABNORMAL_SACCADIC_EYE_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SACCADIC_EYE_MOVEMENTS ATXN1 MME MRE11 VPS13D PDYN ITPR1 PNKP MAPT EEF2 GBA2 SPTBN2 FBXO7 PRNP UBAP1 TMEM240 VAMP1 GBA DARS2 NOP56 CHP1 PLA2G6 GRM1 VPS41 PEX2 FGF14 NKX6-2 ATXN3 ATP2B3 DNAJC6 TNFSF11 SLC35A2 XRCC1 SCO2 ATXN7 ALS2 PIK3R5 VPS13A MYORG PLD3 SNX10 SLC6A3 SHMT2 COQ5 MFN2 DHX16 TUBB3 SCP2 TPP1 CLCN7 ANO10 KIF1B C19orf12 CACNA1G INPP5E SLC1A3 ATP1A2 ATP13A2 AFG3L2 NPHP1 SNCA SCYL1 NDUFS2 ATXN8OS NDUFAF3 GJC2 AGTPBP1 CACNA1A TMEM216 FXN ELOVL5 APTX TCIRG1 ATXN2 SYNE1 KIF1A GDAP2 ATP1A3 NDUFB8 SURF1 PEX10 TGM6 SOX3 SLC44A1 HP_HYPOMETRIC_SACCADES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOMETRIC_SACCADES MME MYORG MRE11 SPTBN2 NKX6-2 CACNA1G APTX SLC1A3 MAPT DNAJC6 COQ5 GRM1 PLA2G6 GBA NPHP1 HP_VISUAL_LOSS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VISUAL_LOSS SF3B1 COQ2 OPA1 CFHR3 NHLRC1 MT-TS1 FLVCR1 KIF11 BAP1 AHI1 PTPN22 ATP1A3 MT-ND6 CYP4V2 GJB6 ADGRV1 GUCY2D ZNHIT3 GALC ANKRD55 SDCCAG8 C1QTNF5 PTPN2 TNFRSF11A CFI IL2RA ZNF469 SMCHD1 CEP41 SPTBN1 AKT1 PGK1 USH2A BCOR BRAF CLN8 PRPS1 LSS LCA5 MT-ND4L NDUFS2 MT-TS2 P4HA2 CHM XYLT2 TGFBI CYP1B1 NDUFB11 GJB2 AIP MYO7A PIK3CA MERTK ATXN7 CEP78 TREX1 SLC19A2 MT-ATP6 CARS2 TCOF1 ADAMTS10 CEP120 COL4A1 HADHA TUBB3 VHL MT-TH NOTCH3 NPHP4 COL17A1 EFEMP1 CLN5 NF1 SLC25A46 PDGFB ALPK1 IL2RB TIMP3 MEN1 TRIM44 C19orf12 SON MT-CO3 USH1C MT-CO1 RP1L1 HLA-DRB1 GNA11 LTBP2 POLG PEX13 CDH23 APOE PDZD7 TRAF3IP1 ALMS1 OAT COL18A1 GNAS SRD5A3 MT-ND1 TRAF7 MMP1 FA2H KIAA0586 EPRS1 PRPH2 ABCA4 USP8 STAT4 TAT SUFU GUCA1A MT-TW TPP1 ARSG NEU1 COL2A1 MFSD8 RAX2 FBN1 POLA1 RLBP1 NPHP3 VCAN MT-ND4 WHRN HSD17B10 ABCD1 CFHR2 SOX2 MT-CYB CFHR1 BTD MT-TL1 TEK ARL3 POLG2 INPP5E RDH11 PLA2G6 HCCS TIMM8A ESPN HMCN1 NF2 MT-ND5 SH3BP2 SMARCB1 DNM1L MT-ND2 PMPCB CYSLTR2 PCDH15 HLA-A WAC CLN3 ELMO2 MT-CO2 CDHR1 PHYH FGFR2 CTNNB1 KCTD7 GNAQ NHS TBC1D24 CFH NOD2 PCYT1A CA2 SMARCE1 IFT140 HLA-B GATA2 EPM2A SEMA4A MFN2 HARS1 NBAS SMO CEP290 PPT1 PRDM5 IQCB1 HSD17B4 CEP164 TERT LRP2 INVS ST3GAL5 PEX7 RS1 MKS1 DCN CLN6 CLCN7 MYOC KIF1A LAMC3 CSPP1 DNAJC30 MT-TF SOST RDH5 WDR19 KIAA1549 SLC52A2 PAX6 CD247 MT-TQ CIB2 MTTP CTSD FOXC1 SPATA7 COL7A1 NPHP1 PNPLA6 UCHL1 RHO CFAP418 COX7B COX6B1 USH1G KARS1 PSAP TFG CLRN1 ZNF408 HP_RETINAL_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_HEMORRHAGE ATP6V1E1 XYLT1 ABCC6 TET2 IKBKG ENPP1 MYD88 GCDH CFHR1 DNM2 XYLT2 ERCC6 TERC CFH TERT COL4A1 SBDS CFHR3 TREX1 PRF1 APOE HMCN1 ATP6V1A IFNG ATP6V0A2 CFI ERCC8 EFEMP1 HP_THICK_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICK_EYEBROW TFAP2B SHH ERLIN2 SOX4 BICRA ARID2 HMGA2 HDAC8 PPP1R21 B3GAT3 SATB1 SIX3 IARS2 GNB2 KCNJ8 SMAD4 ACER3 RPS23 SLC9A6 FGFR1 MEF2C ABCC9 SPEN FBXL4 SLC6A17 DOCK7 KMT2A TRIO STIL FUCA1 GLI2 DDB1 OBSL1 ARID1B KMT2C KDM5C KCNH1 SMARCE1 WAC NOTCH2 UBR7 RPS6KA3 CUL7 ZIC2 SPTBN1 MAN2B1 BCOR VPS13B ANKRD11 SMC3 ATP6V1B2 CHST3 CCDC8 PAX3 TP63 ASXL3 CDH11 AFF4 SLC35A2 ZSWIM6 BPTF DNMT3A MGAT2 TUBGCP2 MBD5 SMARCA4 IDUA RUSC2 BRD4 LAS1L FBXO31 DPF2 AIFM1 CNOT2 TMCO1 NIPBL SHANK3 MAGEL2 ABCA5 NBAS NSUN2 SMARCB1 HECW2 GUSB RAD21 CDON GPRASP2 SIM1 FRMD4A CREBBP SETD1B SMARCC2 KCNK4 EBF3 TBCK NFIX WNT4 COL1A2 KCNN3 SMC1A SLC25A24 SPECC1L DISP1 CTCF PUF60 PHIP RBM10 KNL1 RALGAPA1 FGF8 LEMD3 SMARCA2 EXT1 SOX6 KIFBP TRPS1 FOXL2 RNF125 PHF6 TAF1 TAF6 SUMF1 SMARCD1 EP300 GNS RET PSMD12 MN1 MAP3K7 AUTS2 TASP1 CHD1 ARID1A SOX11 HP_SCOTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCOTOMA MT-CYB RLBP1 CYP4V2 MYOC TIMM8A ADGRV1 RBP3 OPA1 C1QTNF5 ESPN MT-ND5 CDH23 DNM1L MT-ND2 CFI PCDH15 HLA-A CYP1B1 OPA3 ITM2B USH2A RTN4IP1 MT-ND6 RPGR MT-ND4L NDUFS2 ABCA4 MTRFR PROM1 ELOVL4 FLVCR1 MT-CO1 MYO7A CEP78 GNAT2 MT-ATP6 MT-ND4 MFN2 HARS1 DNAJC30 IMPG2 EFEMP1 CACNA1A SLC25A46 CACNA1F SCN1A FDXR PDE6H MT-CO3 CFH USH1C CNGA3 CNGB3 TMEM126A PDZD7 TRNT1 POC1B RAB28 PRPH2 ACO2 MT-ND1 RDH5 PDE6C CIB2 MTTP ARSG CRX RHO ATF6 MT-TS2 KCNV2 MFSD8 ATP1A2 USH1G PRRT2 WHRN PRPF3 CLRN1 CFAP410 BTD HP_CENTROCECAL_SCOTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTROCECAL_SCOTOMA MT-ND4 MT-ND5 MT-CYB MT-ND6 MT-ND4L NDUFS2 MT-ATP6 MT-ND2 OPA1 MT-CO3 DNAJC30 MT-CO1 MT-ND1 HP_NASOLACRIMAL_DUCT_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NASOLACRIMAL_DUCT_OBSTRUCTION YY1 TP63 SIX1 PAX1 TFAP2A FREM1 SMC3 FGF10 NOP10 KNSTRN PTDSS1 TAF1 CREBBP PIK3CD EYA1 CD151 TET3 EP300 PPP1CB KAT6A TCOF1 NHP2 FGFR3 IGSF3 FGFR2 SOX6 HP_PIGMENTARY_RETINOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PIGMENTARY_RETINOPATHY SURF1 MT-TS1 ABCA4 PANK2 FLVCR1 BBS1 ARL6 MT-ND6 PEX1 HADHA COA8 RPE65 BBS12 BEST1 GUCY2D IFT27 MKS1 NPHP1 MT-ND3 ACOX1 CTNS MSTO1 MT-TS2 IMPG2 MT-ND1 ATXN7 COX7B LRAT ERCC8 BBS5 HADHB MT-ND4 BBS7 NDUFA2 CRB1 MT-TH MTFMT IFT74 SNRNP200 MT-ND2 NGLY1 BBS9 TIMP3 RP9 ERCC3 RP1 PCARE AHI1 MT-CO1 LCA5 PEX5 BBS2 SCAPER SAG MT-TW NDUFB11 RP1L1 ZFYVE26 CEP290 TACO1 LIPT1 SLC19A3 FKRP FSCN2 TRIM37 IDH3B HCCS AIRE CRX USH2A MORC2 RHO PRPH2 IFT172 NDUFS8 RNU4ATAC PDE6A MFSD8 BBIP1 MKKS MFRP PDHA1 RLBP1 CLCC1 ISCA1 KIZ ARL3 LZTFL1 POMT2 MT-TL1 MT-ND5 PRPF31 NR2E3 MMACHC EYS SDHAF1 GSS MT-ATP6 PET100 CNGA1 MT-CO2 NDUFA9 NCAPG2 NDUFA12 MT-TN NDUFAF6 NDUFS2 VPS13B RRM2B NDUFS3 WFS1 COX15 PNPLA6 WDPCP JAG1 ROM1 AMACR NDUFA10 IDH3A PISD HADH MT-TK GMPPB NDUFV2 NOTCH2NLC TULP1 IMPDH1 PRCD NDUFA13 SDHA ARL13B COX8A ERCC6 NDUFV1 NDUFS7 PEX2 NDUFA4 MT-CO3 FAM161A POLR3A ALMS1 CNGB1 NDUFS1 SPATA7 LARGE1 TTC8 CYP4V2 POMGNT1 SDCCAG8 SDHB RNASEH1 PROM1 CFAP418 MT-TF RDH5 POMT1 KIAA1549 FOXRED1 ZNF513 MT-TQ ARSG NDUFS4 CLRN1 MT-TV PRDX1 NDUFAF5 ERCC4 BBS4 TRIM32 NDUFAF2 CEP19 ECHS1 CAV1 BBS10 RP2 SDHD HP_BLEPHAROPHIMOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLEPHAROPHIMOSIS ATR SMARCA2 MYT1L KMT2E FOXL2 CCDC32 GTF2I SIX3 COLEC10 STRA6 MAFB FAT4 GTF2IRD1 GATAD2B MYCN KAT6B FGFR1 RTL1 ABCC9 NTNG1 KANSL1 STIL GLI2 RERE ESS2 MCTP2 SLC2A10 WDFY3 SMAD4 ALG14 ZIC2 SMOC1 BCOR TXNL4A RAB18 SLC12A2 TBX1 GRIA4 PAX3 MED12 MASP1 ACTL6B METTL27 BRPF1 KCNMA1 TBL2 RECQL4 DGCR8 PYCR1 KRAS CUL4B MUSK ERF HUWE1 HS2ST1 TBX15 BPTF UBE3B PUS7 PTPN23 TUBB HSPG2 UBR7 COLEC11 HHAT SHH SMO NFIB RHOA MEG3 SOX9 RLIM NCF1 ACTL6A DCHS1 CREBBP RFC2 MAPK8IP3 TP63 HPDL PHF6 ANK1 DNAJC30 BRCA1 MYLPF SALL1 BCORL1 DISP1 CRKL KDM4B FOXP1 UGDH HDAC4 BCR PSMD12 SALL4 KCNJ2 FGF8 BCL7B AGO2 SEPTIN9 CHN1 PALS1 JARID2 MAPRE2 ZMIZ1 CLIP2 CEP152 THOC6 ORC1 TLK2 WASF1 ABHD11 SLX4 WDR35 MYH3 DGCR2 ELN PIEZO2 EIF4H LAT2 STX1A GJA1 DDR2 TRIP12 NSUN2 SVBP DNMT3A EP300 TANC2 FANCD2 MED27 MLXIPL BUD23 DGCR6 TBL1XR1 CNOT3 MAPK1 SCARF2 DACT1 LIMK1 TCF20 CLDN3 BAZ1B MOGS ATP6V1A ODC1 KAT8 DPYSL5 RBPJ DDX6 LIG4 MED13 GPKOW KMT2A RIPK4 ZMPSTE24 NTNG2 GTF2IRD2 SETD5 DOCK3 STAC3 ERCC1 FKBP6 ERCC6 CLDN4 HTT VPS37D MECP2 SLC6A17 TNRC6B CEP57 TRMT1 GPC6 LMNA TMEM270 KCTD1 TRAPPC4 FOXG1 SATB1 FBXW11 DLK1 RBMX MADD HP_UPSLANTED_PALPEBRAL_FISSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPSLANTED_PALPEBRAL_FISSURE NDUFS4 GAD1 LMNB1 ZMIZ1 PEX6 TFAP2A KIF11 CNOT3 DLX4 PIGA BUB1B SIX3 HBB AHDC1 PIGL HERC2 POLR3A RAI1 MYCN DEAF1 FGFR1 PEX1 SPEN MEF2C KANSL1 TRIO CCDC32 TAF13 STIL EXOSC2 FLII GATA4 ANKLE2 GLI2 DDB1 BPTF C2CD3 MCTP2 PEX26 TRIP12 PIGV NFIX RTTN PHC1 CENPJ ZIC2 ADAMTS3 SPTBN1 METTL5 PYCR2 ANKRD11 NSDHL TELO2 SLX4 PEX3 PEX10 WNT5A CDK13 SIN3A PEX12 ADARB1 WASF1 UBE2A ATAD3A PIGY GATAD2B CNOT2 NXN CHAMP1 PARS2 MCPH1 RFWD3 GJA1 PQBP1 MAP3K7 ERCC4 MEIS2 CDK6 ZNF148 CDC42 FGFR2 XRCC2 PPP1R12A FIG4 HDAC4 ZC4H2 CEP152 PEX16 UBE3B PEX5 SMS MAF SASS6 TUBB TMCO1 MFSD2A NDN TRAPPC14 SHH PCNT TOE1 DVL1 ASPM PPP1CB PIGN PAK3 VAC14 HNRNPU ROR2 EFTUD2 PHIP PEX7 DVL3 MAPK8IP3 MED13L DONSON CACNA1G NONO KDM4B KAT8 HUWE1 FANCC CREBBP CERT1 AP3B1 PIGW ANK1 BRCA1 IL1RAPL1 UBE2T B3GLCT POLA1 DISP1 PEX19 ARID1B RAD51 SNRPN FGF8 CD96 KIF14 MAGEL2 OCRL WDR62 SEPTIN9 PGAP3 DYNC1I2 COG7 MAD2L2 SEC24C RAB11B ADAMTSL2 BICRA RERE PPP1R21 COMT PIGB PEX11B MAPRE2 RDH11 ATRX JMJD1C BRCA2 COG1 PURA THOC6 TLK2 EBP PGAP1 FANCE COPB2 PGAP2 DLG3 WDR35 EHMT1 KIAA1109 MEGF8 PIGT KDM5C EIF2AK3 FANCI CEP135 NBN CCDC22 MINPP1 JAG1 EP300 ASXL3 FANCA TOR1A LIG4 HERC1 UQCC2 TBCD TUBGCP2 FANCL PTCH1 EXOC2 AGO2 SMC1A ASXL1 DPYD ANKRD17 HHAT HIRA CEP63 SNORD116-1 CDK5RAP2 IQSEC2 TRRAP ADAT3 PMM2 TBX1 SETD5 HSD17B4 TCF4 FANCB IGF1R NR2F1 AP1S1 SIM1 PIGO PHF8 GATA1 BCL11B KNL1 UFD1 ALX4 POLR3GL EBF3 TBCK SPECC1L RIPK4 PWRN1 PEX2 AUTS2 MECP2 IFT57 DHCR7 PUF60 PEX13 USP9X TBX6 GP1BB MKRN3 PWAR1 QRICH1 FANCF DYRK1A PEX14 ZNF292 CLTC XRCC4 ARVCF CIT CHD4 NPAP1 FANCG NCAPD3 COPB1 CTU2 NARS1 RREB1 FZD2 BRIP1 FANCD2 STEEP1 SNORD115-1 FANCM PALB2 HS2ST1 RAD51C HP_BAND_KERATOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BAND_KERATOPATHY PTPN22 ANKRD55 PTPN2 GNAS IL2RB CD247 COL18A1 JAG1 SLC4A4 OVOL2 IL2RA NOD2 STAT4 HP_SHALLOW_ORBITS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHALLOW_ORBITS SKI P4HB FGFR2 GNPTAB MITF HYMAI SHPK FGFR1 HERC1 HNRNPK ALG9 TWIST1 FLNB ESCO2 MAF SETBP1 NFIX FBN1 PLAGL1 PLOD3 ADAMTS10 SERPINH1 ZMPSTE24 KCNJ6 LMNA MTX2 LEMD2 HP_ABNORMALITY_OF_THE_OPTIC_NERVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_OPTIC_NERVE ERCC2 SARDH LARGE1 CCDC32 ARL2BP MGP MECR CACNA1A PCARE GRN PTPN22 MT-ND6 TGFB1 DPM1 TUBGCP6 RBP3 AGXT APC PDE6G RAB23 NDP MT-TP RERE OFD1 GRID2 DNMT1 WDFY3 OPA1 ERCC8 ARSL TUB CDK19 SLC13A5 IER3IP1 ADAM22 BRAF PRPS1 DAG1 CENPF ANKRD11 FAS NDUFS2 MSTO1 SPEN MT-TS2 TNFRSF11B PEX3 PAX6 RPE65 ABCC6 ZEB2 MT-ND1 FGF12 PEX12 IFT140 PIK3CA FAM111A ATXN7 POU1F1 MT-ND4 CNKSR2 MT-ATP6 KCNMA1 TUBB3 GABRB2 KIAA1549 IDH3A SAG MAP2K2 NTRK2 ERCC3 SLC25A46 MT-ND2 NGLY1 ZNF408 TRAK1 PROKR2 HUWE1 CTBP1 ACADS PRKCZ NDUFAF3 IMPG2 ESPN TOPORS MT-CO3 PEX6 SLC1A2 GUCA1B SHH TMEM67 PEX5 BBS2 SALL4 PDHX IQCB1 TYR HESX1 VPS41 FZD4 RP1L1 NAGA IFT88 NDUFC2 HNRNPU POMGNT1 USP45 LRP4 UQCRFS1 TACO1 FKRP CTNNB1 ATP1A3 PAX2 AP1S2 GLB1 KIF14 FA2H ERCC4 B9D1 FDFT1 SPATA7 LHX4 HNRNPK NDUFV2 OCA2 PEX19 ERAP1 MT-TW SOX3 SELENOI ATP6V1A TPI1 CFAP410 DNAJC19 HLA-DRB1 TNFRSF11A NDUFS8 MFRP LCA5 GP1BA B4GAT1 UBA5 CHN1 ROM1 JARID2 DNM1 SNAP29 MT-CYB UBE3B PPP1R21 DIAPH1 SCYL2 ACER3 COMT PIGB TK2 MT-ND5 IL23R ARL3 ZMIZ1 POLG2 PLA2G6 ATRX FGFR2 POMT1 SSBP1 CYP27A1 CHSY1 SH3BP2 CEP290 ANTXR1 PET100 USH2A GBA CYP1B1 SLC38A8 TCIRG1 SERAC1 TANGO2 COL4A1 ITM2B B3GALNT2 RAB18 NDUFA12 GALC OTX2 PCK1 NDUFS3 KIDINS220 NEFL TULP1 WFS1 B9D2 CRPPA PLP1 SVBP CYFIP2 NUP62 TOR1A CASR TANC2 MT-CO1 PPP2R1A FGFR1 LDLRAP1 MT-TK DNM1L MED27 CA2 WDR45 CNGA1 FSCN2 AARS1 DHX38 TWNK NMNAT1 SCN3A NDUFA13 ARL13B PLEKHM1 MKS1 OSTM1 ATG7 CISD2 HHAT HIRA PSAP AFF4 STAG2 GLI2 TFG EEF1A2 TBX1 CC2D2A TMEM216 CLDN11 TIMM50 IL10 XYLT2 PIEZO2 STXBP1 HSPG2 TBCD KIZ RLBP1 WWOX CLCN7 MAP2K1 TMEM126A NDUFS4 FKTN TXN2 NAA10 RFC1 DISP1 CASK LRP5 ACO2 PEX16 DOCK3 MT-TF CNNM4 XYLT1 ARHGEF2 PNPLA6 CFAP418 CLN8 GRIN2D PPP3CA TOE1 SOX2 INTS8 VPS13B POMT2 VPS11 RXYLT1 EXOC8 SLC29A3 SATB1 PDPN ECHS1 PTCD3 KIF11 NLRP3 ABCA4 UBAC2 CA4 STX3 PEX1 COA8 ZIC1 RAB3GAP2 TCTN3 PRICKLE3 PEX26 EMC1 OPA3 RTTN C4A IDS YAP1 AKT1 IBA57 NDUFS1 PTF1A EYS ZIC2 ACTB BAP1 NELFA PCYT2 FLVCR1 GPR161 LRAT TNFSF11 BLOC1S3 GDF6 L2HGDH PRCD WDR11 SLC19A2 ISCA2 RNF135 GNAT1 IMPDH1 MID2 NDUFA6 MAG RPGR NFIX SIX3 TLR4 HARS1 MT-TH NOTCH3 AUH CELF2 CKAP2L NALCN SLC6A9 WDR73 SNRNP200 PSMD12 SH3TC2 GLA TSC1 PEX14 ERF INPP5E HS2ST1 KCTD7 HCN1 SEC23A PUS7 C19orf12 SON SCYL1 CBS TUBGCP4 AIPL1 ARHGEF18 P4HTM MPDU1 TUBA8 DOCK6 NDUFAF2 TMEM98 ERCC6 CRB1 XPA KCNC3 COL18A1 NT5C2 CDC42 POLR3A RP9 LUZP1 MVK TRAF7 RLIM ZNF592 ACTL6A ARV1 MAPK8IP3 ELP1 XPC ASB10 SCAPER AAAS B3GLCT NDUFAF4 NDUFV1 FGF13 MTRFR KCNA2 DDB2 FOXG1 BOLA3 NEU1 MFSD8 PEX13 NDUFAF1 PDHA1 CLCC1 PIGG IL11RA TMEM237 SOST RAB11B TMEM107 ZPR1 IFT172 KCNJ13 MT-RNR1 MT-TL1 PRUNE1 KCNB1 COX7B MYOC MRPS34 DGUOK POGZ POLG NF2 SCN8A ALG8 GJC2 MTFMT MMACHC DARS2 ACOX1 HLA-A FOXRED1 BCAP31 FDX2 MT-CO2 DDHD2 MT-TN NDUFAF6 PEX2 PRPF8 GABRA5 EIF2B1 TRIP12 HGSNAT MFN2 HLA-B GRIA4 NDUFA10 MTPAP CACNA1B SCO2 AHI1 ARSA EXOC2 SOX5 AKT3 SDHA ASXL1 WARS2 KAT6A BEST1 TP53 SIX6 MMP14 EPCAM MICU1 NDUFAF5 DHDDS NDUFAF8 DPYSL5 POLR3B ATAD3A ARX MT-ND3 KLC2 IL12A DDX6 VPS33A GDF3 NDUFS6 UFD1 MED13 ATXN1 TYRP1 YWHAG NEK2 POMK AHR STAMBP LDLR SNX10 SYNGAP1 KIF1A TBC1D24 FGF8 CSPP1 MED12 ASPA GP1BB DYRK1A POU3F4 GNAQ RPGRIP1 NUS1 NDUFB8 SURF1 CDON AP3B2 TWIST1 AFG3L2 SZT2 MCOLN1 MMUT EIF2B3 RNF113A CCDC88A TBCE SPG7 PROM1 KMT2E B3GALT6 ZNHIT3 ARNT2 KRAS PTPN23 TBC1D2B GNA11 RAB3GAP1 ADAR CPAMD8 EBP SPOP MBTPS2 PEX10 MMP23B RSPO2 SYNJ1 CCR1 C2CD3 GEMIN4 FCSK ROBO1 IDH3B RTN4IP1 TCTN1 MFF MAN2B1 P4HA2 RPGRIP1L DARS1 PRKAR1A ABCG5 ATIC MERTK AIFM1 ERCC1 CLTC MC1R ACTL6B TRAPPC12 VHL NEDD4L RGR PDGFB PRPF31 GABRA2 OTUD5 CRX BPTF IGBP1 PRPH2 UBR7 SLC45A2 LHX3 TRNT1 PPP1CB ALMS1 WDR4 RDH12 STAT4 CLCN2 FGFR3 POMGNT2 SRD5A3 DPM2 LIPT1 SLC19A3 GATA3 SPINT2 REEP6 KIAA0586 EPRS1 CLP1 FOXA2 HPDL CNGB1 PUF60 SEMA4A BCORL1 SUMF1 FH KDM4B NDUFB9 NARS2 PDE6A MPDZ CHD7 AGO2 TXNDC15 TASP1 VCAN NOTCH2NLC SEC24C ERCC5 SIL1 FANCI HK1 JMJD1C MEF2C RNF216 WASF1 ARL6 TMTC3 CERKL GPAA1 CPLX1 DENND5A MT-TQ CSF1R NIPBL MAK PROP1 SEC31A COX15 DPAGT1 MMP19 NOD2 UBE4B PARS2 PORCN STIL TSFM CCDC22 CNOT3 FRMPD4 KANSL1 FDXR KLHL7 PIK3CD TCF20 NDUFS7 SMO PPT1 MOGS TSC2 KAT8 TRAPPC11 PIGU MICOS13 FAM161A TUBB4A TTC8 PLAA IKBKG YME1L1 NDUFA1 RBM10 GFM2 DNAJC30 PRPF6 NUBPL PANK2 SLC52A2 PRPF4 TBC1D20 BRAT1 GMPPB ARVCF LETM1 ALG13 UCHL1 KNSTRN RP2 RREB1 INPP5K TRMT1 RPS6KA3 WASHC5 TRAPPC4 FBXW11 MT-ND4L CTC1 MMP2 MADD BTD NSD2 MYT1L PDSS1 MT-TS1 MAFB BCOR LAMB1 RPIA TMEM231 KIF7 ALDH1A3 FANCB NTNG1 MTO1 MEFV APOB KLRC4 MTHFR PCSK9 PRPF3 SLC12A2 RIMS2 GABRG2 ACTG1 SLC39A14 TBC1D7 SDHD POLR3K NDUFA2 EIF2B5 NECAP1 WNT3 GATAD2B NR2E3 SEMA3E RECQL4 LYRM7 GJA1 PDE6B ATP6V1B2 RHO NDUFA11 PEX11B TMEM63A PCLO RHOA WT1 IL12A-AS1 ADA2 EIF2B2 COG6 FXN NDUFB10 RP1 STT3B RD3 PTEN SUFU AGBL5 SALL2 GTPBP2 SLC7A14 SLC44A1 PALS1 PCYT1A HSD17B10 AMPD2 SMOC1 MYO5A TIMM8A GGCX SMARCB1 PMPCB CLN3 NDUFA9 ALG3 NDUFB11 KCNAB2 MINPP1 DNMT3A FLRT1 NRL GLRX5 PISD SMARCE1 TUBGCP2 GATA2 CDHR1 ZNF513 NBAS SKI MPLKIP ABHD12 CACNA1F C1QTNF5 NDUFA4 NR2F1 TERT ST3GAL5 SLC25A19 CLRN1 CASZ1 ELOVL1 PRDM16 CYP7B1 NTNG2 DHCR7 TIMMDC1 VPS53 ATN1 EIF2B4 PLK4 DDX11 TSPAN12 THG1L DKC1 TRIT1 HTT HIKESHI MT-TV DALRD3 NDE1 DPYD TNRC6B ABCG8 TCTN2 NDUFB3 SMG8 GABRD TMEM126B GMPPA EPG5 GUCY2D HP_OPTIC_DISC_COLOBOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_DISC_COLOBOMA EPCAM PAX2 CC2D2A SPINT2 TMEM216 PAX6 ACTB INPP5E BCOR RPGRIP1L IGBP1 TMEM67 ACTG1 SALL4 SALL2 NAA10 HHAT C2CD3 SMO NIPBL DDX11 HP_COLOBOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLOBOMA NSD2 FIBP MAF ZMIZ1 TFAP2A KIAA0586 NRAS SIX3 ALX3 MAFB BCOR ERF POMT2 CEP290 SUFU KIF7 ARMC9 FKRP INTS1 AHI1 FGFR1 RAB3GAP1 KRAS TMEM237 ESCO2 ALDH1A3 STIL CLDN19 RAB3GAP2 MBTPS2 GLI2 RSPO2 RERE C2CD3 FBXW11 HYLS1 TENM3 SMCHD1 CEP41 ZIC2 POMK YAP1 SPTBN1 HMX1 POLR1D DAG1 CENPF ATOH7 ACTB TCOF1 CRYAA TMEM216 LARGE1 RPGRIP1L BMP4 NELFA SPECC1L RPE65 ZEB2 FGFR2 TBC1D20 SIN3A WDR37 ACTG1 GDF6 COX7B ARL13B LRAT CEP104 TGIF1 TMEM67 WNT3 INPP5E CEP120 ROR1 SEMA3E PIGL EP300 FGF8 ZNF423 CBY1 ARL3 CRYGD CHD7 TCTN1 AKT1 PAX6 CTBP1 SHH MKS1 SATB2 SALL1 CDON RBP4 IGBP1 HHAT PORCN PTEN LCA5 SALL4 SMO NDUFB11 FOXH1 ADNP HRAS POMGNT2 PQBP1 SRD5A3 FGFRL1 TBX22 CPLX1 MED12L PAX2 SPINT2 PTCH1 TRIM37 ASXL1 HCCS NODAL PUF60 ANK1 POMT1 B3GLCT POMGNT1 HNRNPK MAB21L2 DISP1 SALL2 MPDZ PRMT7 POGZ GAS1 PIGG B4GAT1 CHN1 C12orf57 RB1 SOX2 TMEM138 CRYBA4 ALG2 PRPS1 CRYBB1 PTCH2 TCTN2 MMACHC LETM1 NOTCH2 NIPBL KMT2D COL4A1 FLNA RAB18 ALG3 KIFBP OTX2 CRYGC MITF AAAS FKTN CREBBP CRPPA POLR1B CPLANE1 CASK GJA8 GZF1 CCDC22 NMNAT1 KATNIP PIBF1 DACT1 WASHC5 SIX6 MMP14 EPCAM CC2D2A FGF3 B3GALNT2 TRAPPC11 LRP2 B9D1 SPATA7 PACS1 TBC1D23 GDF3 CRYBB2 NOTCH3 NAA10 FOXE3 DHCR7 FLI1 DHX38 PCYT1A DDX11 ABCB6 MED13L CSPP1 KDM6A DYRK1A POLR1C VPS35L WAC TBR1 GMPPB CAPN15 GNAQ TDGF1 TMEM231 PNPLA6 VPS13B DPYD ATP6V1A DLL1 PDE6D NPHP1 KCTD1 RXYLT1 VSX2 MMP2 GMPPA HMGB3 HP_PROGRESSIVE_EXTERNAL_OPHTHALMOPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_EXTERNAL_OPHTHALMOPLEGIA POLG2 OPA1 MT-TN MT-TS1 MT-CO3 RNASEH1 VARS2 MT-TL1 ACADS DNA2 MT-ND6 TK2 ATXN3 DGUOK RRM2B MT-CO1 TOP3A POLG C1QBP MT-TF MT-CO2 SLC25A4 TYMP APTX MT-TS2 MT-TQ MT-TT MT-TK MT-ATP8 MT-ND1 MT-TW MT-ND5 GIPC1 TWNK MGME1 MT-TH MT-ND4 MT-TL2 HP_ABNORMAL_SCLERA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SCLERA_MORPHOLOGY TENT5A C1R EXOSC1 KDELR2 ENPP1 B3GALT6 PPP1R21 B3GAT3 NLRP3 GNB2 UROS HGD RPS23 COL5A1 COL12A1 POLR3A DVL1 KMT2D ESCO2 RMRP MVK CHSY1 GDF11 BEST1 TRMT5 INPPL1 PIGT KDM6A SERPINH1 KRAS MBTPS2 TRMT10A ZNF469 IFITM5 BMP1 KDM1A IDS ARL2 TELO2 PUS3 CHST3 IMPG2 DSE DPAGT1 COL1A1 WNT5A DNASE1L3 WASF1 TMEM38B AKT1 COG4 TGFBR1 NXN LRP5 MC1R BCL11A PLOD1 FBN1 NFIX HADHA SLC39A13 COL1A2 PSMB8 DACT1 XYLT1 CYB5R3 PYCR1 CRTAP CHST14 PRDM5 PRSS56 PAX1 CREB3L1 MESD PTEN PPP1R15B MED27 ADAMTS2 VPS4A DVL3 SON GATA1 GHR TGFBR2 ABCC6 B4GALT7 ROR2 EXOC6B SLC29A3 WNT1 CANT1 IKBKG CLCNKB CTSK KIFBP PRKAR1A UNC45A COL3A1 SEC24D FKBP10 UROD IGF2 OCA2 CYB5A SALL1 P4HB FZD2 PPIB PRMT7 SLC26A2 FGFR1 MFRP MAP3K7 ALPL TGFB3 HP_BLUE_SCLERAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLUE_SCLERAE TENT5A C1R EXOSC1 KDELR2 ENPP1 B3GALT6 PPP1R21 B3GAT3 GNB2 RPS23 COL5A1 COL12A1 POLR3A DVL1 KMT2D ESCO2 RMRP MVK CHSY1 GDF11 TRMT5 INPPL1 KDM6A SERPINH1 TRMT10A ZNF469 IFITM5 BMP1 KDM1A MBTPS2 TELO2 PUS3 CHST3 DSE COL1A1 WNT5A WASF1 TMEM38B COG4 HGD TGFBR1 NXN LRP5 BCL11A PLOD1 FBN1 NFIX SLC39A13 COL1A2 XYLT1 CYB5R3 PYCR1 CRTAP CHST14 PRDM5 PAX1 CREB3L1 MESD PPP1R15B MED27 ADAMTS2 DVL3 SON GHR TGFBR2 ABCC6 B4GALT7 ROR2 EXOC6B WNT1 CANT1 IKBKG CTSK KIFBP UNC45A COL3A1 SEC24D FKBP10 IGF2 CYB5A P4HB FZD2 PPIB PRMT7 SLC26A2 MAP3K7 ALPL TGFB3 HP_ABNORMAL_ANTERIOR_CHAMBER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ANTERIOR_CHAMBER_MORPHOLOGY CHRDL1 PIK3R1 PITX2 FOXC1 ZEB1 IL2RB GRHL2 PIGL SPATA7 PIGO LTBP2 FOXE3 MYOC COLEC11 ANKRD55 LCA5 OVOL2 COLEC10 PAX6 PTPN2 CYP1B1 PGAP2 NDP MIR204 ADAMTS10 ELMO2 PIGV COL18A1 IL2RA TSPAN12 MITF ATOH7 CD247 RAB18 PIGW RPE65 JAG1 B3GLCT VSX1 STAT4 MASP1 LOXL1 PTPN22 SRCAP LRAT FBN1 PIGY FGFR1 LRP5 COL8A2 PGAP3 CHST14 HP_SHALLOW_ANTERIOR_CHAMBER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHALLOW_ANTERIOR_CHAMBER NDP PGAP2 FBN1 PIGY ATOH7 ADAMTS10 RAB18 PIGL PIGW PIGV PIGO TSPAN12 LTBP2 PGAP3 HP_OPHTHALMOPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPHTHALMOPARESIS PROM1 OPA1 NDUFS1 SURF1 NRAS COL3A1 PCARE SLC18A3 TPM3 LMOD3 PTPN22 MT-ND6 DOK7 ATXN3 MT-CO2 MT-TV SLC9A6 MUSK ENG MT-TK OFD1 COL13A1 MYO9A IDH3B MFF MT-TS2 P4HA2 SCN4A CHRND CHRNE MT-ND1 PIK3CA ATXN7 POLG2 MT-ND4 PLXND1 GIPC1 CHRNA1 POLG KIAA1549 IDH3A SAG TWNK RGR PLEC GABRA3 PDGFB PRPF31 MT-ND2 HACD1 CRX RYR1 VARS2 PRPH2 BAP1 IMPG2 TOPORS MT-TL1 GUCA1B TOP3A CDH23 COX16 IFT88 MT-TW TACO1 MAPT LIPT1 SLC19A3 TPM2 REEP6 ATXN2 SPATA7 CNGB1 TGFBR3 MT-TE ARHGEF18 SYNE1 GBA SEMA4A SYT2 RRM2B NDUFS8 TYMP MT-TC SLC25A1 MTM1 MTMR14 CHN1 SELENON ROM1 NOTCH2NLC KLHL41 ITGA7 ATXN1 SPEG COLQ TK2 MT-ND5 ARL3 DNA2 ARL6 DMPK DNM2 SDHAF1 MT-TF CHAT PET100 USH2A ANGPTL6 PDE6G ACTN2 NDUFA12 NDUFS2 CRB1 NEB NDUFS3 TULP1 MAK COX15 ACTA1 DNM1L CNGA1 FSCN2 RAPSN DHX38 NDUFA13 ATG7 CISD2 FDXR KLHL7 MT-TS1 NDUFS7 SMO TCIRG1 TSPYL1 PIEZO2 ACADS KIZ TTC8 MYH7 RLBP1 RPE65 ADPRS SDHB GRIN1 GFPT1 SDHA PRPF6 FOXRED1 RDH12 CFAP418 TUB PRPF4 PMPCA MT-TQ MTTP TUBB3 KLHL40 RP2 RBP3 FAM161A LAMB2 REV3L NDUFAF5 NDUFV1 AGRN STIM1 POMGNT1 SLC5A7 ECHS1 KIF21A SUCLA2 AFG3L2 SDHD MT-TN MAFB RNASEH1 CA4 TRPV4 ARL2BP EARS2 KCNJ18 C1QBP PDE6A NUTM2B-AS1 SLC25A4 MYL2 AKT1 MT-ND3 EYS CHRNB1 PRPF3 MT-TT DHDDS AIP HPDL PRCD IMPDH1 NDUFA2 RPGR MCM3AP MYF6 NR2E3 LYRM7 MGME1 MT-TH PDE6B MTFMT RHO SH3TC2 FRG1 MEN1 MYMK BBS2 MT-CO1 HLA-DRB1 MTRFR NDUFAF2 MYF5 BIN1 ALDH4A1 NDUFAF3 RP9 ADA2 THSD1 TRAF7 CACNA1S KCND3 APTX LRP4 ZNF408 TTN SCAPER RP1 CERKL SUFU AGBL5 HRAS PDHA1 MT-TL2 SLC7A14 STUB1 ABCA4 FA2H LAMA2 DHX37 AK9 NAXD ROBO3 DGUOK LRAT SMARCB1 MT-ATP6 SNAP25 IFT172 NDUFA9 NDUFAF6 MICU1 PRPF8 HGSNAT PABPN1 UGT1A1 NRL IFT140 NDUFA10 SCO2 NF2 AHI1 NDUFV2 SMARCE1 MT-ATP8 WFS1 AKT3 HLA-B CDHR1 SALL4 PHOX2A BEST1 ZNF513 ATP5MK KRAS MYH2 SBF1 NDUFA4 TERT MT-CO3 SLC52A3 MERTK CLRN1 SNRNP200 NEK2 AHR VAMP1 ATN1 PCYT1A MT-CYB RP1L1 NDUFB8 NDUFS4 MAP3K20 LRP12 HP_ABNORMALITY_OF_THE_FRONTAL_HAIRLINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FRONTAL_HAIRLINE NSD2 SMARCA2 RPS28 SMPD4 RPS15A HDAC8 DLX4 SATB1 ALX3 KCNJ8 ADA2 RPL18 TECPR2 SLC25A24 SPEN CDH1 FOS ZIC1 SPOP RPL35 TWIST2 TRMT10A RPL35A EMC1 LMX1B KDM1A CAVIN1 GATA1 ANKRD11 AGPAT2 SMC3 TCOF1 FGD1 RAB18 ALX1 NELFA LRPPRC KREMEN1 MID1 SIN3A ADARB1 TSR2 EFNB1 APC2 DPF2 AIFM1 NIPBL PEPD RPS27 ATP6V1B2 FGFR2 SYT1 MEIS2 SMARCB1 TBX2 CTBP1 ZC4H2 TWIST1 CWC27 FRMD4A TMCO1 RPS20 HSPG2 RPL5 WNT4 DOCK6 CPOX NANS PPP1CB PPP1R15B ZNF699 SPECC1L ADNP DOCK7 FGFR3 MED13L DPM2 RPS29 RPS10 RPS26 PEX6 INSR RPL26 SMARCC2 SVBP BRCA1 PIK3C2A CCNK SMARCD1 COG5 PPARG RPS24 PIGG ARID1A COG7 RAD21 TBL1XR1 SOX4 BICRA ARID2 RERE SLC9A7 RPL27 POLR1D SLC35C1 RAB3GAP2 THOC6 PGAP1 SH2B1 GDF11 CPLX1 TCF12 NSD1 NOVA2 ARID1B SMARCE1 NOTCH2 IFIH1 STAG2 MAN2B1 PACS1 NBN SOS1 NSUN2 NEPRO LIG4 RPL15 RPS19 SETD2 POLR1B SMARCA4 BRD4 RPS7 SMC1A ASXL1 ANKRD17 BSCL2 PIGK PEX1 FRAS1 TBC1D24 SLC12A6 RPL11 SETD5 ABCC9 UGP2 ARX CREBBP VPS33A RPL31 KCNN3 LRP2 IGF1 RALGAPA1 ERMARD MAB21L1 CAV1 POLR1C TBC1D20 KCNH1 XRCC4 LETM1 TAF6 VPS13B EP300 RPS17 MAP3K7 SOX11 HS2ST1 HP_ABNORMALITY_OF_THE_PHARYNX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PHARYNX TNFRSF13B SH3KBP1 CD19 FCHO1 MGP GFI1 STX3 PTPN22 NFKB2 SCNN1G CTLA4 TAP1 DNAAF1 TERT TAPBP RSPH1 DYM ICOS CD79A TAP2 CD81 ZAP70 TERC LEP IVNS1ABP IL2RG DNAAF2 HGSNAT NME8 LEPR EGFR IDS ANKH NHP2 CXCR4 UNG GALNS P4HA2 NLRP12 ADA SERPING1 IRF2BP2 IL7R MID1 SCNN1B RAG1 NAGLU MGAT2 CFI CCDC65 DPF2 RFX5 TCOF1 GIPC1 TNFRSF13C PRPS1 STAT3 BLM CD4 RFXANK CIITA PIK3CD SMARCB1 KATNIP GLB1 SRP54 GUSB HSPG2 PARN PNP HLA-DRB1 CD79B CARMIL2 RSPRY1 DKC1 NOP10 FGFR1 CFAP298 PLP1 ALMS1 ADNP UNC119 MED12 ARSB WAS ADA2 SMARCA2 DNAAF11 COG4 RSPH4A RAI1 TNFSF12 CREBBP TINF2 TP63 NEK10 CR2 SMARCC2 NPM1 FOXP1 MCIDAS SMARCD1 SALL4 GNS TCIRG1 PRKCD DCLRE1C NFKB1 ATM RNF168 ARID1A NOTCH2NLC SEC24C TBX1 SOX4 ARID2 COMT COL5A1 GJA1 SH2D1A JMJD1C MAGT1 PLG JAK3 COL5A2 RAG2 TP53 ELANE HLA-DPB1 SLC29A3 ARID1B KDM5C SMARCE1 DNAI2 DNAAF4 SHH SPAG1 FGFR2 MATR3 GLI3 PABPN1 EP300 RPGR STK11 DOCK8 DNAJB13 USB1 DNAAF6 ODAD1 SMARCA4 ODAD2 ZMYND10 IKBKB HLA-B FOXJ1 IL21R STXBP2 NCF4 SETBP1 F12 STAT1 HIRA PSMB8 AICDA MDM4 IGHM SOX9 MYSM1 GNPTAB MST1R IL17RA RAC2 NBN UFD1 RTEL1 GAS2L2 LRBA SCNN1A TBC1D24 WRAP53 ACP5 FOXN1 USP9X SGSH GAS8 GP1BB ALG12 OFD1 MS4A1 IL6R ARVCF CTC1 STK36 FCGR3A DNAH5 HYDIN RREB1 ASAH1 DNAAF5 XIAP HPS6 SOX11 RFXAP TNFRSF1A HP_HYPOTELORISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOTELORISM DLL1 SMPD4 NF1 CNOT3 SIX3 PTCH1 FGFR1 ZIC2 FREM1 COX14 KANSL1 CCDC32 STIL ATP6AP1 NDP GLI2 DDB1 TDGF1 FGF8 TRMT10A RTTN MSTO1 QARS1 DISP1 NIN IFT43 TPRKB GAS1 TGIF1 FOXH1 EVC RNF113A ARID1B ALDH18A1 GJA1 FGFR2 PYCR1 MSX2 RAB3GAP2 NODAL FARSB WDR4 STAG2 ACBD5 GATA2 PPP1R15B MKS1 GPT2 CDON TRAPPC9 SHH ARCN1 ERCC3 ZNF699 LIG4 FGFR3 ERCC2 DPM2 WDR19 KAT8 IFT122 HUWE1 LAGE3 DYRK1A OSGEP PAH PROKR2 TP53RK GTF2H5 CNOT1 SEPTIN9 RECQL4 BICRA RERE NTNG2 SMC1A PDE4D USP9X AP3D1 MPLKIP KIAA1109 OPHN1 GSC SLC35A1 NUP107 RLIM SHPK IFT52 FANCD2 MLXIPL TARS1 EVC2 HNRNPH2 AASS NSUN2 TRRAP WDR73 SRC ELN GTF2E2 XRCC4 SNRPN NUP133 DPYSL5 NARS1 CDK19 TWIST1 NDE1 RAB3GAP1 CEP57 KCTD1 WDR35 EPG5 SUFU STIM1 HP_CENTRAL_SCOTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_SCOTOMA CACNA1F MT-ND4 RLBP1 FDXR MT-CYB PDE6H MT-CO3 MYOC CYP4V2 TIMM8A RBP3 OPA1 CNGA3 CNGB3 TMEM126A DNM1L POC1B RAB28 MT-ND2 MT-ND5 CYP1B1 DNAJC30 PRPH2 ITM2B RDH5 PDE6C RTN4IP1 MT-ND6 RPGR NDUFS2 ABCA4 MTRFR PROM1 ELOVL4 MT-CO1 CRX GNAT2 RHO ATF6 MT-ATP6 MFSD8 MFN2 OPA3 MT-ND4L MT-ND1 IMPG2 CFAP410 HP_SUPRANUCLEAR_GAZE_PALSY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPRANUCLEAR_GAZE_PALSY CCDC88C FUS ACOX2 DCTN1 ATP13A2 MAPT ROBO3 ATXN1 CHCHD10 NPC1 C9orf72 SIGMAR1 ALS2 VAMP1 POLG TBK1 PIGT GBA FTL DCC HOXA1 KCNC3 PLA2G6 ALDH4A1 POLR3A TANGO2 SQSTM1 HLA-DQB1 FA2H VCP ELOVL4 DLAT PSAP PRNP TARDBP NPC2 SYNJ1 VPS13A NOP56 SPG11 SPG7 ADD3 AASS TWNK SH3TC2 HP_ABNORMALITY_OF_THE_PERIORBITAL_REGION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PERIORBITAL_REGION WT1 NUP133 PSPH COL1A1 PEX6 TBX1 GTF2I CDH11 MYD88 KCNJ8 MYO1E KRAS HLA-DPA1 GTF2IRD1 NUP37 KIF11 KNSTRN POR FREM1 SLC25A24 ABCC9 SPEN PEX1 ZNHIT3 RAB23 FOS CHD1 SPOP GPR101 CAMTA1 DNMT3B SOX18 PEX26 ZNF41 TWIST2 NUP160 SLC9A7 RPS6KA3 IDS PPP2CA CAVIN1 SPTBN1 ZNF81 BRAF AGPAT2 GATA5 ACTB PEX3 FRMPD4 ANLN PEX10 AGTR2 PTCHD1 PEX12 SNX14 ACTG1 ZSWIM6 PITX2 UBE2A SUMF1 ARX AIP NKX2-5 FTSJ1 PAK3 COL4A3 NUP85 FBXO31 TCF12 MASP1 FLT4 PIEZO1 GATAD2B EDARADD FLNA METTL27 TBL2 SHANK3 SEC23A TRAPPC9 SMCHD1 MAP2K2 PAX2 NKX2-6 PTPRO EDAR GRIA3 MAP3K7 PEX16 PEX5 MAGI2 FRMD4A TUBB SYP GAPVD1 WDR4 DLG3 TBC1D8B ZIC1 TNFRSF1A SUZ12 DOCK7 RBM10 FGFR2 EDA MED12L MED13 YY1 GNE NCF1 HLA-DPB1 RFC2 TWIST1 PHF6 PDGFRB KIF15 TAF1 HBA2 DNAJC30 GSN PSMB4 MAB21L2 PEX19 INF2 COL5A2 NEU1 EMP2 ANTXR1 BCL7B DMD HDAC8 PPARG TASP1 ARHGDIA GATA4 ACSL4 FRG1 ZNF711 CNKSR2 MID2 PLCE1 PPP1R21 PRTN3 RPS23 SLC35C1 PEX11B KMT2E ARHGEF6 SOX11 TTC37 CLIP2 GDF1 ACTN4 NPHS1 ABHD11 NUP93 PIK3CD RAB39B PCGF2 OPHN1 GDI1 APOL1 ERCC4 ELN SLC29A3 FGFR3 ALG13 IGSF3 PRMT7 EIF4H CCBE1 RIN2 LAT2 MECP2 DAAM2 STX1A CD2AP CRB2 USP27X NPHS2 CITED2 PSMC3 NSUN2 ASXL3 FHL1 PSMB9 NUP107 COL5A1 MLXIPL KCTD1 FGFR1 LAS1L EXOC2 BUD23 TRPC6 KAT6A TSPAN7 KPTN ANKRD17 LIMK1 MED12 CLDN3 BSCL2 CYP26C1 PEX2 MYOD1 PIK3R1 BAZ1B IQSEC2 NUP205 MDH1 STEEP1 LRP2 GNPTAB ADAMTS2 PHF8 VPS33A LIG4 IL1RAPL1 GATA6 MAP2K1 NRAS KIF1A HBA1 UPF3B LTBP4 PTH1R PEX13 YARS1 SP7 ZFPM2 GTF2IRD2 CAV1 USP9X ESCO2 PTPN22 CLCN4 DUX4 PEX14 FGF10 FKBP6 GJA5 CHD8 CLDN4 VPS37D ARHGAP24 HRAS HCFC1 ANKFY1 JAG1 LZTR1 POMP EDEM3 TMEM270 COQ8B GHR CTLA4 FOXG1 RBMX HS2ST1 HP_MACULAR_DEGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULAR_DEGENERATION ARL2BP CFHR1 PRPF31 ALDH3A2 ABCA4 HK1 NR2E3 GUCY2D GUCA1B MPLKIP GRK1 HMCN1 SLC6A6 WDR19 CFI HLA-A TRAF3IP1 CLN3 CDH3 GUCA1A RLBP1 SAG FBN2 ABCC6 ZFYVE26 ELOVL4 ATXN7 MERTK CFHR3 TARS1 PRCD RNF113A SEMA4A EFEMP1 RIMS1 PPT1 BEST1 SIX6 C1QTNF5 RPGRIP1 CNGB1 GBA XYLT2 RP9 RS1 MAPKAPK3 PAX2 TTC8 CFH GTF2E2 AIPL1 PROM1 APOE CNGB3 NRL ERCC3 RP1L1 PITPNM3 YARS1 ERCC2 PRPH2 DHX38 PCYT1A PLK4 XYLT1 RDH5 RAX2 COL18A1 RPGR LZTFL1 CEP78 SCAPER DRAM2 SPG11 FBLN1 RHO CFAP418 ATF6 TNFRSF11B CST3 SH3BP2 ASAH1 KCNV2 FBLN5 GTF2H5 CP IFT140 NMNAT1 ANO10 HP_OPTIC_NERVE_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_NERVE_HYPOPLASIA PAX6 LHX4 OTUD5 ZPR1 POMT1 ERF PROKR2 FANCI PROP1 NR2F1 ARNT2 ATAD3A PTPN23 OTX2 KNSTRN GLI2 MEF2C SON ALDH1A3 POMK ZIC1 HESX1 TUBA8 LHX3 SPOP SCN8A MBTPS2 PPP1CB FKTN RSPO2 WT1 POU1F1 PUF60 CASK MED12 FKRP ARSL RTTN ROBO1 B3GALNT2 HNRNPK DDHD2 PTF1A CENPF ANKRD11 KIF14 NEFL GMPPB FOXA2 FDFT1 DNMT3A SOX2 GRIA4 GPR161 PPP2R1A CRPPA MAP2K2 CDON WDR11 SOX3 NDE1 FGFR1 RNF135 POMGNT1 POMT2 WNT3 GATAD2B RNF113A TUBB3 PIK3CD LARGE1 STAG2 SIX6 HP_ABNORMAL_CHOROID_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CHOROID_MORPHOLOGY SIM1 SLC25A15 ZNF408 PEX6 KIF11 CFHR3 SIX3 MAFB BCOR POMT2 GRHL2 TMEM231 BEST1 FKRP FGFR1 CYP4V2 TMEM237 GUCY2D PEX1 PRPH2 AGXT OVOL2 STIL NDP CLDN19 MT-TK TCTN3 GLI2 RERE PEX26 CFI DPP6 ZIC2 POMK YAP1 SPTBN1 ACVRL1 DAG1 TCTN1 TMEM216 LARGE1 PEX3 CHM RPGRIP1L BMP4 RPE65 ABCC6 NDUFB11 PEX10 PEX12 VSX1 CSPP1 ADAMTS18 LRAT TMEM67 HADHA SEMA3E CRB1 ZNF423 EFEMP1 NF1 PAX6 AKT1 RNF216 INPP5E SHH SALL1 TIMP3 ACTB PEX16 MAPKAPK3 PEX5 MT-TL1 TSC1 HHAT PORCN PTEN LCA5 SALL4 APOE TSC2 NRL MAGEL2 SAG FZD4 WT1 OAT CCM2 CLCN2 POMGNT2 IKBKG FSCN2 B9D1 MT-TE POMT1 CRX DISP1 PEX19 HLA-DRB1 FGF8 FBLN5 CHD7 PROM1 OCRL PRSS56 TXNDC15 ZEB2 DCT VCAN B4GAT1 COL8A2 CHN1 RBP4 C12orf57 TMEM107 CFHR2 ENPP1 UBE3B IMPG2 TUBGCP4 CFHR1 TMEM138 GNAQ PEX11B HCCS EYS HMCN1 HLA-A RPGRIP1 TBX22 GUCA1A COL4A1 VPS13B MFRP FBN2 ABCA4 FKTN B9D2 CRPPA JAG1 ELOVL4 ROM1 EPHA2 NOD2 CASK GZF1 CCDC22 CEP290 MKS1 PDCD10 DHX16 DACT1 CC2D2A SIX6 C1QTNF5 ZEB1 RLBP1 B3GALNT2 MICOS13 XYLT2 CTNNB1 SPATA7 PAX2 CREBBP CFH VPS33A CNGB3 PEX2 NAA10 TUBGCP6 PEX13 LRP5 POMGNT1 IMPG1 TSPAN12 XYLT1 PNPLA6 CLCNKB VPS35L WAC POU3F4 PEX14 TEAD1 GDF3 TMEM98 KRIT1 FBLN1 COX7B NDE1 TCTN2 EP300 WASHC5 RXYLT1 RP2 HP_IRIS_COLOBOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRIS_COLOBOMA NSD2 MAF TFAP2A SIX3 ALX3 MAFB BCOR ERF POMT2 SUFU ARMC9 FKRP AHI1 FGFR1 KRAS TMEM237 STIL MBTPS2 GLI2 RSPO2 RERE HYLS1 TENM3 SMCHD1 CEP41 ZIC2 POMK YAP1 SPTBN1 DAG1 CENPF ATOH7 ACTB TCOF1 CRYAA TMEM216 LARGE1 RPGRIP1L BMP4 NELFA ZEB2 FGFR2 SIN3A ACTG1 COX7B ARL13B CEP104 TGIF1 WNT3 INPP5E CEP120 ROR1 SEMA3E FGF8 ZNF423 CBY1 ARL3 CRYGD CHD7 TCTN1 CTBP1 SHH MKS1 CDON RBP4 IGBP1 PORCN SALL4 NDUFB11 FOXH1 ADNP HRAS POMGNT2 FGFRL1 CPLX1 MED12L PTCH1 TRIM37 HCCS NODAL PUF60 ANK1 POMT1 B3GLCT NRAS TMEM67 SALL1 DISP1 SALL2 MPDZ POGZ GAS1 PIGG B4GAT1 CHN1 C12orf57 RB1 SOX2 POLR1D KIAA0586 TMEM138 CRYBA4 ALG2 CRYBB1 PTCH2 TCTN2 LETM1 TBX22 NOTCH2 COL4A1 FLNA ALG3 KIFBP CRYGC AAAS FKTN CRPPA POLR1B CPLANE1 GJA8 GZF1 CCDC22 CEP290 KATNIP PIBF1 DACT1 MMP14 CC2D2A SIX6 FGF3 B3GALNT2 TRAPPC11 LRP2 B9D1 CRYBB2 NOTCH3 NAA10 DHCR7 FLI1 POMGNT1 CSPP1 DYRK1A POLR1C GDF3 GNAQ SRD5A3 TDGF1 TMEM231 PNPLA6 VPS13B ATP6V1A DLL1 NPHP1 WASHC5 KCTD1 RXYLT1 VSX2 MMP2 GMPPA SMO HP_PHOTOPHOBIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHOTOPHOBIA GJB6 PROM1 CRX CNNM4 UBAC2 GRHL2 ITGB6 PCARE CA4 ALDH3A2 ARL2BP CNGA3 ERCC8 PCNA DKK1 PRPH2 OVOL2 RPE65 LRAT MEFV PDE6A CCR1 OFD1 GUCY2D CFI KLRC4 MBTPS2 CACNA1F NMNAT1 C4A TLCD3B IDH3B GUCA1A EYS CTNS RTN4IP1 FAS PRPF3 ERCC6 GPR143 TGFBI DHDDS TP63 RIMS2 CNGB3 GJB2 NLRP1 GNAT2 VSX1 TYR PRCD OPN1LW FOXC2 IMPDH1 CHST6 RPGR PDE6C RNF113A MC1R DDB2 NR2E3 HADHA TLR4 HARS1 POC1B KIAA1549 PDE6B IDH3A SLC24A5 PLCD1 SAG COL17A1 RHO EFEMP1 RGR SREBF1 PRPF31 ZNF408 PDE6H CABP4 GALC IMPG2 TOPORS BBS2 GUCA1B SLC45A2 LCA5 ADAM9 ERCC2 ERCC3 SLC39A4 CEP250 ALMS1 XPA IFT88 AHSG STAT4 IL12A-AS1 RP9 CACNA2D4 REEP6 AP3B1 ERCC4 SPATA7 CNGB1 XPC ARHGEF18 SCAPER RP1 IKZF1 SEMA4A OCA2 KRT12 CERKL SLC1A3 TAT ATF6 ERAP1 AGBL5 POLH KCNV2 HLA-DRB1 RAX2 POLA1 OPN1SW MFRP GTF2H5 RLBP1 MAPT DCT RGS9 CLCC1 COL8A2 SLC7A14 ROM1 RAB28 ABCA4 AP1B1 DRAM2 IL23R MCOLN1 ARL3 HK1 HLA-B TIMM8A ERCC1 ERCC5 MPLKIP ARL6 AIPL1 ANTXR1 USH2A IFT172 HLA-A PDE6G KRT5 ITM2B CDHR1 CRB1 TULP1 MAK TNF PRPF8 HGSNAT ATXN7 NRL IFT140 LYST NOD2 AHI1 NOTCH2NLC CNGA1 FSCN2 GNB3 TARS1 DHX38 KCNJ13 ESR1 RPGRIP1 LRMDA SCN1A BEST1 KLHL7 ZNF513 NLRP3 EPCAM ST14 C1QTNF5 ZEB1 KRT14 IL10 IL12A PITPNM3 KIZ KRT3 TTC8 MERTK CFH RIMS1 CLRN1 SNRNP200 OPN1MW GTF2E2 WNT10A NEK2 ELOVL1 AHR CFAP418 UNC119 CFAP410 TTLL5 PRPF6 CLTRN RP1L1 LSS RDH5 RDH12 TUB PRPF4 CEP78 CST6 PNPLA6 RP2 EDNRA PIKFYVE AFG3L2 RBP3 FAM161A BLOC1S5 TACSTD2 CRYGC SLC6A19 PSAP POMGNT1 LTBP2 HPS6 AIRE RGS9BP HP_ABNORMAL_NASOLACRIMAL_SYSTEM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NASOLACRIMAL_SYSTEM_MORPHOLOGY FRAS1 GJB6 PTDSS1 SIX1 EYA1 PAX1 GRIP1 TFAP2A MALT1 FREM1 TP63 NOP10 SATB2 KIF11 KNSTRN PHGDH HCCS CREBBP NDUFB11 SLC25A24 BIRC3 PIK3CD CD151 UBR1 PPP1CB FGFR2 NHP2 MBTPS2 FGF10 SOX10 FGFR3 IGSF3 HLA-DRB1 SOX6 FOXP1 YY1 SIX5 SMC3 PEX6 FOXL2 KRAS SMCHD1 BTNL2 COL3A1 TAF1 FREM2 COX7B PSAT1 TET3 EP300 KAT6A PRMT7 TCOF1 TWIST1 BCL10 PAX3 FGFR1 PEX1 KAT6B HP_ABNORMAL_PUPIL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PUPIL_MORPHOLOGY RB1 ADAMTSL4 PIK3R1 PAX6 ARL6IP6 ZEB1 CTBP1 TBX2 MAFB PTEN GRHL2 TINF2 FOXC1 CPAMD8 FBN1 OVOL2 GMPPA NDP MPZ RHOA WT1 LETM1 NSD2 COL4A1 LPAR6 FGFRL1 LAMB2 PCYT1A TONSL GJA1 CPLX1 ATOH7 GPR143 ELP1 ZEB2 COL3A1 AAAS SIN3A VSX1 PITX2 MAB21L2 LOXL1 POMT2 LIPH KRT71 PHOX2B PMP22 SALL4 STIM1 OCRL TMEM67 DDX6 KRT74 COL8A2 CHN1 KRT25 RBP4 SH3TC2 HP_MIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIOSIS CHRDL1 KIF1B SIX6 PHYH DNMBP NOTCH2NLC STIM1 PEX7 ORAI1 DDC HHAT HP_ABNORMALITY_OF_OCULAR_SMOOTH_PURSUIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_OCULAR_SMOOTH_PURSUIT ATXN1 GJB1 MRE11 SYT14 TBP PEX10 CACNA1G INPP5E KCND3 ITPR1 STT3A PDHB GBA2 TBCD EEF2 SPTBN2 TMEM240 PLA2G6 SCYL1 ALS2 TTBK2 XRCC4 ATP2B3 CACNA1A PRNP PMPCA FMR1 KCNC3 RARS1 ZFYVE26 SPG11 FTL GNB1 DARS2 SACS ATXN8OS TSEN54 ATN1 STUB1 POLR3A DPM2 SETX RUBCN MAN2B1 PIK3R5 FGF14 TMEM216 THG1L ATXN3 PRKCG ATXN10 ELOVL4 ATXN2 SYNE1 STXBP1 PAFAH1B1 WARS2 POLR3B NOP56 TULP1 RFC1 TPP1 ANO10 HP_BLINDNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLINDNESS NDUFS4 SARDH ITGA2B PROM1 ZNF408 PANK2 UBAC2 UROS CEP290 PCARE CA4 LRP5 ARL2BP KIF11 ATP1A3 PDHA1 MT-ATP6 TMEM237 GALC C1QTNF5 HEXA RPE65 NDUFS7 LRAT NDP MEFV PDE6A BEST1 CCR1 OFD1 GUCY2D KLRC4 HEXB LAMB2 GLB1 CDH3 C4A SMCHD1 IDH3B AKT1 WHRN HPS1 NDUFS1 EYS FAS CTNS BAP1 TMEM216 PRPF3 DHDDS NDUFB11 FLVCR1 ATIC AIP BMP4 GNAT1 PIK3CA FREM2 CD109 PRCD IMPDH1 ITGB3 EIF2B5 GM2A TMEM67 RPGR TIMP3 PRPS1 NR2E3 TLR4 KIAA1549 CLCN7 PDE6B IDH3A ZNF423 SAG RHO RGR NF1 PDGFB PRPF31 FZD4 GRIP1 CRX MEN1 PRPH2 NDUFAF3 IMPG2 TOPORS BBS2 GUCA1B AIPL1 CDH23 NRL GATA1 ALMS1 IFT88 OAT STAT4 PITX3 CFAP418 IL12A-AS1 FKRP PQBP1 RP9 COL2A1 FOXRED1 HLA-DRB1 TRAF7 XRCC4 EIF2B2 REEP6 KIF14 LONP1 CREBBP SPATA7 NDUFA6 CNGB1 NDUFB10 ARHGEF18 SCAPER RP1 UROD SEMA4A NDUFV1 MT-ND1 CERKL SUFU ERAP1 NDUFB9 AGBL5 MFSD8 NDUFS8 ITGA2 MTRR NDUFAF1 OPA3 ARNT2 POGZ SLC7A14 ROM1 ABCA4 HSD17B10 ABCD1 GP1BA DHX37 IFT172 TMEM138 IL23R ARL3 NSMCE2 SREBF1 NDUFAF4 RD3 CAPN5 HCCS CNGA3 BCOR PLG ARL6 ACTB NF2 B4GAT1 SDHAF1 GJB2 SMARCB1 NDUFAF2 TNFSF11 NDUFV2 USH2A PDE6G CLN3 NLRP3 B3GALNT2 UFM1 CRB1 TULP1 MAK PRPF8 EIF2B1 HGSNAT NDUFA11 BTNL2 HLA-B ATXN7 PROS1 IFT140 AHI1 SMARCE1 CNGA1 FSCN2 MT-ND2 NDUFAF5 FBN1 DHX38 POMT2 CDHR1 PLOD1 SCN1A KLHL7 ZNF513 PLA2G6 SMO FRAS1 PPT1 POMT1 FDXR NDUFS2 TCIRG1 NDUFAF8 TERT IL10 CTNNB1 MT-ND3 ASPA IL12A KIZ TTC8 MERTK NDUFS6 CYP4V2 CLRN1 SNRNP200 RLBP1 NEK2 POMK AHR PEX6 NDUFA1 ADAMTS10 FKTN GP1BB SDHB TIMMDC1 EIF2B4 PRPF6 NUBPL RP1L1 TSPAN12 NDUFS3 GNAS RDH12 TUB PRPF4 ATRX TBC1D24 GMPPB MTTP GNAQ SDHA TMEM231 RP2 POLG SLC24A1 COX7B NDE1 PGK1 RBP3 POMGNT1 FAM161A NAA10 EIF2B3 CEP164 PSAP NDUFB3 CTC1 LARGE1 TMEM126B PIK3R2 MTR SDHD CC2D2A HP_DACRYOCYSTITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DACRYOCYSTITIS FGFR3 FGF10 IGSF3 FGFR2 TP63 PRMT7 HLA-DRB1 SATB2 BTNL2 HP_ENTROPION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENTROPION ATP6V1A ATP6V1E1 ERCC4 ERCC2 POLR3A XPC GMNN TP63 LMNA IKZF1 PPP2R1A HLA-B ERCC5 XPA ALDH1A3 DDB2 ZMPSTE24 ERCC3 ERCC6 POLH HP_BLURRED_VISION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLURRED_VISION ABCA1 MT-ND4 ZEB1 MT-CYB MT-ND6 NDUFS2 CLCNKB GRHL2 APOA1 RPE65 KCNA1 SPATA7 MT-CO1 MAPT VSX1 MT-CO3 CACNA1A LCA5 OVOL2 LRAT DBH SLC12A3 SCN4A MT-ATP6 HLA-DRB1 ATP1A2 MT-ND2 TACSTD2 NOP56 MT-ND5 HLA-A COL4A1 DNAJC30 MT-ND4L SLC4A11 COL8A2 MT-ND1 NLRP3 SCN9A COL17A1 HP_SUPRANUCLEAR_OPHTHALMOPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPRANUCLEAR_OPHTHALMOPLEGIA ATXN1 GBA ATXN3 ATXN2 ATXN7 HP_EYELID_COLOBOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EYELID_COLOBOMA CCNQ SF3B4 FRAS1 DHODH POLR1C FREM1 TXNL4A POLR1B TCOF1 CDH11 POLR1D RNASEH2C ALX1 TWIST1 IFIH1 SAMHD1 ESCO2 KCTD1 RIPK4 EDNRA RNASEH2B RNASEH2A FGFR1 CHD7 KRAS ADAR TREX1 SEMA3E FLI1 SLC25A24 ADNP HP_POSTERIOR_EMBRYOTOXON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_EMBRYOTOXON TBX1 SEC24C PIK3R1 PITX2 BAZ1B PEX6 GTF2I COMT GTF2IRD1 PEX11B PEX16 FOXC1 HCCS PEX5 JMJD1C CLIP2 UFD1 PEX1 ABHD11 PEX2 ESS2 DGCR2 PEX26 ELN PEX13 SLC38A8 GTF2IRD2 GP1BB EIF4H NOTCH2 YAP1 LAT2 STX1A NCF1 PEX14 RFC2 PEX3 FKBP6 ARVCF JAG1 NDUFB11 CLDN4 PEX10 DNAJC30 VPS37D PEX12 MLXIPL PEX19 COX7B BUD23 DGCR6 RREB1 TMEM270 METTL27 BCL7B TBL2 HIRA DGCR8 LIMK1 CLDN3 PAX6 HS2ST1 HP_PERIORBITAL_FULLNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIORBITAL_FULLNESS YY1 MID2 IQSEC2 STEEP1 RPS23 KMT2E ARHGEF6 VPS33A ELN TUBB SPEN SYP IL1RAPL1 RAB39B DOCK7 WDR4 PCGF2 DLG3 CHD1 NRAS GDI1 UPF3B ZNF41 TWIST2 RPS6KA3 USP9X FGFR3 ALG13 SLC9A7 PEX19 FGFR2 GNE PPP2CA MED13 ZNF81 MECP2 CLCN4 USP27X FGF10 FRMPD4 ASXL3 AGTR2 PTCHD1 MAB21L2 ARX HRAS HCFC1 MLXIPL FTSJ1 PAK3 GATAD2B TSPAN7 EDEM3 ANKRD17 DMD TASP1 MED12 RBMX ACSL4 ZNF711 HS2ST1 CNKSR2 HP_ABNORMAL_RETINAL_ARTERY_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RETINAL_ARTERY_MORPHOLOGY TBX1 SEC24C BAZ1B NDP ABCC6 GTF2I ENPP1 ASAH1 COMT GTF2IRD1 NEU1 GALC JMJD1C CLIP2 ELN MT-ATP6 MYOC UFD1 SELENOI ABHD11 COL4A1 HEXA F12 LRP5 MT-ND5 SMPD1 NEK1 BEST1 MT-CO3 TMEM231 CYP1B1 GTF2IRD2 IGFBP7 HEXB GP1BB GLB1 MT-ND1 EIF4H LAT2 STX1A NCF1 MT-ND4L RFC2 CTSA FKBP6 ARVCF DARS1 CLDN4 DNAJC30 MT-ND6 VPS37D MLXIPL MT-CYB FZD4 TULP1 BUD23 RREB1 MT-ND4 TMEM270 GM2A METTL27 BCL7B PSAP TBL2 HIRA MT-ND2 LIMK1 CLDN3 PRPF3 HP_RETINAL_ARTERIAL_TORTUOSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_ARTERIAL_TORTUOSITY MT-CO3 MT-ND2 MT-ND5 MT-ND6 MT-ND4L NEK1 MT-ATP6 DNAJC30 MT-ND1 MT-ND4 MT-CYB SELENOI HP_LACRIMATION_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACRIMATION_ABNORMALITY BAZ1B TRAPPC11 SIX1 NGLY1 PAX1 ZEB1 GTF2I AP1B1 NOP10 GRHL2 GTF2IRD1 SLC12A2 SREBF1 MAPT KRT3 CLIP2 ALX4 ABHD11 OVOL2 GMPPA SOX10 MADD ELP1 FGFR2 NHP2 ELN GTF2IRD2 FGFR3 IGSF3 CLDN10 EIF4H SDHD LAT2 DST STX1A NCF1 DKC1 RFC2 FGF10 FOXL2 FKBP6 TP63 LRP1 AAAS CLDN4 DNAJC30 VPS37D VSX1 PIGQ SLC39A14 MLXIPL COL17A1 KRT12 SCN9A SETBP1 ERCC8 EYA1 PAX3 BUD23 ERCC6 HLA-DRB1 TMEM270 ERCC4 CHD7 SEMA4A METTL27 BCL7B TINF2 TBL2 OCRL SEMA3E LIMK1 CLDN3 COL8A2 TWIST2 NLRP3 LIFR UBR1 HP_DECREASED_LACRIMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_LACRIMATION TRAPPC11 DST NGLY1 PAX1 AP1B1 FGF10 FOXL2 ELP1 AAAS SLC12A2 MAPT PIGQ ALX4 GMPPA SETBP1 ERCC8 SOX10 MADD ERCC6 ERCC4 FGFR3 FGFR2 CLDN10 HP_BLUE_IRIDES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLUE_IRIDES SNRPN BAZ1B HERC2 GTF2I PDE4D GTF2IRD1 SOX10 UBE3A CLIP2 ELN ABHD11 TYRP1 EDNRB UROC1 GTF2IRD2 EIF4H LAT2 STX1A NCF1 SOS1 RFC2 TP63 FKBP6 PRKAR1A EDN3 CLDN4 DNAJC30 VPS37D SLC45A2 OCA2 MLXIPL PAX3 BUD23 MC1R TYR TMEM270 METTL27 BCL7B MAPK1 TBL2 MITF PAH LIMK1 CLDN3 HP_UPPER_EYELID_COLOBOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_EYELID_COLOBOMA FRAS1 TWIST1 SLC25A24 TCOF1 ALX1 FREM1 HP_LONG_PALPEBRAL_FISSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_PALPEBRAL_FISSURE RNU4ATAC MID2 LMNB1 CAMK2G KRAS PIGL PDE4D DVL1 KMT2D ARHGEF6 PURA HNRNPK SPEN ACTG1 RAB39B ROR2 PGAP2 DDB1 GDI1 KDM6A ZNF41 OTUD6B RPS6KA3 PIGV WAC BMP1 ALG13 SLC9A7 SPTBN1 ZNF81 MECP2 ANKRD11 ACTB USP27X FRMPD4 BRAF WNT5A AGTR2 PTCHD1 RAC1 ARX FTSJ1 PAK3 PIGY GATAD2B TSPAN7 NXN MED12 MAP2K2 MIR140 IQSEC2 STEEP1 PIGO DVL3 SYP IL1RAPL1 FIBP DLG3 MAP2K1 PCLO UPF3B ADNP USP9X SPOP CLCN4 AFF3 CLP1 PIGW HCFC1 CCNK AP3B2 EIF5A FZD2 DMD PIK3R2 PGAP3 TGFB3 ACSL4 ZNF711 CNKSR2 HP_GAZE_EVOKED_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GAZE_EVOKED_NYSTAGMUS ATXN1 CACNA1A SCN1A MRE11 TBP CACNA1G KCND3 ITPR1 BEAN1 AFG3L2 SPTBN2 ATXN3 CACNB4 UROC1 WWOX UBAP1 SCN8A GCH1 GRM1 PAX7 STUB1 SETX PIK3R5 FGF14 SACS COQ2 THG1L APTX PMPCA PRKCG ATXN10 GRID2 ATXN2 SYT14 SPG11 VLDLR SLC1A3 SDHA RFC1 ATP1A2 PRRT2 TDP1 SOX3 HP_DYSMETRIC_SACCADES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSMETRIC_SACCADES ATXN1 MRE11 FGF14 PEX10 UBAP1 ATXN3 ITPR1 MFN2 TGM6 AFG3L2 ATXN2 ATXN8OS TPP1 EEF2 SCYL1 SPTBN2 ANO10 HP_RED_GREEN_DYSCHROMATOPSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RED_GREEN_DYSCHROMATOPSIA OPA1 OPA3 FGF14 C1QTNF5 OPN1LW OPN1MW ACO2 NR2E3 HP_AMBLYOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMBLYOPIA COL11A1 RORA ZMIZ1 B3GAT3 ENG MAFB ERF GRHL2 KIF11 HCCS DYRK1A FBN1 OVOL2 NF2 C1QBP SCN8A GPR143 NFIX AP4S1 TANGO2 SMCHD1 DPP6 WDR26 CRYAA CHST3 AP4E1 NDUFB11 NPHP4 AFF4 FGFR2 VSX1 COL9A2 MLXIPL RRAS2 WARS2 XYLT2 LAMA1 KAT6A SALL4 PHOX2A ACVRL1 LIM2 COL9A1 ZEB1 PAX6 AP4B1 CRYBB1 NR2F1 MAP3K7 ELN TRIO POLR3GL CBS LOXL3 YME1L1 P4HTM H1-4 PIGN ADAMTSL4 ADNP COL4A1 FGFR3 SOBP CHN1 SMAD4 FLNA ARHGEF2 WAC FOXL2 EPRS1 AP4M1 PUF60 TUBB3 GDF2 COX7B TWIST1 OGT COL9A3 PITX2 SMARCA2 TBX1 CRYGC OCRL TASP1 MED25 COL8A2 CLCN6 RIC1 HP_SCLEROCORNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCLEROCORNEA NSD2 TMEM107 TMEM216 PXDN SOX2 FIG4 CTBP1 TMEM231 HCCS CC2D2A NDP TCTN3 CPLX1 NDUFB11 VAC14 FOXE3 DHCR7 RAX TENM3 RPGRIP1 RPGRIP1L HMX1 TMEM67 CENPF TCTN1 B9D1 BMP4 NELFA LETM1 B9D2 CSPP1 MAB21L2 COX7B PRDM5 TCTN2 FGFR1 TBX1 MKS1 TXNDC15 SCARF2 PIGG PAX6 SLC25A24 TMEM237 CEP290 HP_OPTIC_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_ATROPHY ERCC2 SARDH LARGE1 MGP MECR CACNA1A PCARE GRN PTPN22 MT-ND6 DPM1 TUBGCP6 AGXT RAB23 NDP MT-TP RERE OFD1 DNMT1 OPA1 CDK19 SLC13A5 IER3IP1 ADAM22 PRPS1 DAG1 NDUFS2 SPEN MT-TS2 TNFRSF11B PEX3 ZEB2 MT-ND1 PEX12 ATXN7 ERCC8 MT-ND4 CNKSR2 MT-ATP6 GABRB2 KIAA1549 IDH3A SAG MAP2K2 NTRK2 ERCC3 SLC25A46 MT-ND2 NGLY1 TRAK1 CTBP1 ACADS PRKCZ IMPG2 TOPORS MT-CO3 PEX6 SLC1A2 GUCA1B SHH PDHX NAGA IFT88 POMGNT1 LRP4 TACO1 FKRP CTNNB1 ATP1A3 GLB1 FA2H ERCC4 B9D1 SPATA7 NDUFV2 PEX19 MT-TW SELENOI ATP6V1A CFAP410 DNAJC19 TNFRSF11A B4GAT1 UBA5 ROM1 DNM1 SNAP29 MT-CYB UBE3B PPP1R21 DIAPH1 SCYL2 COMT TK2 MT-ND5 ARL3 POLG2 PLA2G6 ATRX FGFR2 POMT1 SSBP1 CHSY1 SH3BP2 ANTXR1 PET100 USH2A PDE6G TCIRG1 SERAC1 TANGO2 COL4A1 RAB18 NDUFA12 GALC PCK1 NDUFS3 TULP1 WFS1 B9D2 CRPPA PLP1 CYFIP2 NUP62 CASR MT-CO1 FGFR1 MT-TK DNM1L WDR45 CNGA1 FSCN2 AARS1 DHX38 TWNK NMNAT1 SCN3A NDUFA13 PLEKHM1 MKS1 OSTM1 ATG7 CISD2 HIRA PSAP AFF4 GLI2 TFG EEF1A2 TBX1 TMEM216 TIMM50 PIEZO2 STXBP1 HSPG2 TBCD KIZ RLBP1 WWOX CLCN7 MAP2K1 CC2D2A TMEM126A FKTN TXN2 RFC1 DISP1 ACO2 PEX16 MT-TF CNNM4 PNPLA6 CFAP418 TUB GRIN2D PPP3CA TOE1 INTS8 VPS13B RBP3 POMT2 VPS11 RXYLT1 SLC29A3 PDPN ECHS1 CEP290 PTCD3 KIF11 NLRP3 CA4 ARL2BP PIK3CA COA8 RAB3GAP2 TCTN3 PRICKLE3 PEX26 EMC1 OPA3 IDS YAP1 IBA57 EYS ZIC2 NELFA PCYT2 B3GALNT2 FLVCR1 L2HGDH PRCD SLC19A2 ISCA2 MID2 NDUFA6 RPGR NFIX SIX3 MT-TH AUH BRAF CELF2 CKAP2L NALCN SLC6A9 WDR73 SH3TC2 GLA TSC1 PEX14 KCTD7 HCN1 PEX5 SEC23A C19orf12 SON SCYL1 CBS TUBGCP4 P4HTM MPDU1 DOCK6 NDUFAF2 ERCC6 XPA KCNC3 MAG NT5C2 CDC42 POLR3A RP9 LUZP1 ZNF592 ARV1 ELP1 XPC SCAPER AAAS B3GLCT NDUFAF4 FGF13 MTRFR KCNA2 DDB2 BOLA3 NEU1 MFSD8 PEX13 PDHA1 PIGG TMEM237 SOST RAB11B TMEM107 ZPR1 PEX1 MT-RNR1 MT-TL1 PRUNE1 KCNB1 MRPS34 DGUOK POGZ POLG LRAT ALG8 GJC2 MTFMT MMACHC DARS2 IFT172 ACOX1 FOXRED1 BCAP31 FDX2 MT-CO2 MT-TN NDUFAF6 PEX2 PRPF8 GABRA5 EIF2B1 HGSNAT MFN2 IFT140 NDUFA10 MTPAP CACNA1B SCO2 AHI1 ARSA SOX5 AKT3 SDHA WARS2 KAT6A BEST1 NDUFV1 MICU1 NDUFAF5 DHDDS POLR3B ATAD3A SCN8A ARX KLC2 VPS33A UFD1 SNRNP200 ATXN1 YWHAG NEK2 POMK AHR STAMBP SNX10 SYNGAP1 KIF1A FGF12 TBC1D24 FGF8 ASPA GP1BB RP1L1 POU3F4 GNAQ NUS1 NDUFB8 SURF1 TWIST1 AFG3L2 SZT2 MCOLN1 MMUT EIF2B3 CCDC88A TBCE SPG7 PROM1 NDUFS1 ZNHIT3 ERF KRAS TBC1D2B GNA11 RAB3GAP1 ADAR EBP PEX10 MMP23B RSPO2 SYNJ1 GEMIN4 FCSK IDH3B PAX6 TCTN1 MFF P4HA2 PRKAR1A ATIC ERCC1 CLTC TRAPPC12 NEDD4L RGR PRPF31 GABRA2 CRX PRPH2 WDR4 FGFR3 RPGRIP1L POMGNT2 SRD5A3 DPM2 LIPT1 SLC19A3 TMEM67 REEP6 HUWE1 EPRS1 CLP1 ASXL1 CNGB1 ARHGEF18 SEMA4A SUMF1 FH NDUFS8 NARS2 ACTL6B MPDZ CHD7 TXNDC15 VCAN NOTCH2NLC SEC24C ERCC5 SIL1 JMJD1C RNF216 ARL6 TMTC3 GPAA1 CPLX1 TNFSF11 TRAF7 DENND5A MT-TQ CSF1R NIPBL CRB1 MAK SEC31A COX15 DPAGT1 UBE4B PARS2 PORCN CASK STIL TSFM CCDC22 FRMPD4 KANSL1 TGFB1 FDXR KLHL7 NDUFS7 PPT1 MOGS TSC2 TRAPPC11 PIGU MICOS13 TUBB4A TTC8 PLAA RPE65 IKBKG YME1L1 RBM10 DNAJC30 PRPF6 PANK2 SLC52A2 RDH12 PRPF4 TBC1D20 BRAT1 GMPPB ARVCF LETM1 ALG13 UCHL1 KNSTRN RP2 FAM161A RREB1 LRP5 INPP5K RPS6KA3 WASHC5 MT-ND4L CTC1 BTD NSD2 PDSS1 CNOT3 MT-TS1 LAMB1 RPIA TMEM231 KIF7 MTO1 PDE6A CA2 MTHFR MT-ND3 PRPF3 CSPP1 GABRG2 SLC39A14 TBC1D7 IMPDH1 POLR3K NDUFA2 EIF2B5 NECAP1 WNT3 NR2E3 SEMA3E RECQL4 GJA1 PDE6B ATP6V1B2 RHO NDUFA11 PEX11B TMEM63A BBS2 HLA-DRB1 PCLO RHOA HK1 NDUFAF3 ADA2 EIF2B2 COG6 FXN ZNF408 NDUFAF8 RP1 STT3B CERKL AGBL5 GTPBP2 CYP27A1 SLC7A14 SLC44A1 ABCA4 HSD17B10 AP3B2 AMPD2 SMOC1 MYO5A TIMM8A PIK3CD RPGRIP1 CLN3 NDUFA9 ALG3 KCNAB2 MINPP1 FLRT1 NRL GLRX5 TUBGCP2 HLA-B CDHR1 ZNF513 NBAS SKI MPLKIP ABHD12 NDUFA4 NR2F1 ST3GAL5 SLC25A19 MERTK CLRN1 CASZ1 PRDM16 CYP7B1 DHCR7 VPS53 EIF2B4 PLK4 THG1L DKC1 NDUFS4 HIKESHI MT-TV DALRD3 DPYD TCTN2 GABRD GMPPA EPG5 HP_ABNORMALITY_OF_VISUAL_EVOKED_POTENTIALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VISUAL_EVOKED_POTENTIALS NDUFS4 CWC27 OPA1 PSAP GJC2 NDRG1 ZNHIT3 CLN5 ARSA GALC RDH11 PLA2G6 SLC25A22 RAB3GAP1 PRPS1 TIMM8A ATXN1 COQ2 POGZ LAMA2 POLG CNGB3 RAB3GAP2 TYR SPG11 TTPA ACOX1 EMC1 PRPH2 MOGS RAB18 ARHGEF2 CLN8 TCIRG1 MFF ABCA4 SCAPER ELOVL4 AAAS TBC1D20 TNFSF11 POMGNT1 SUCLA2 COX6B1 ERCC6 SNX10 ERCC8 FXN PROM1 MFN2 CLCN7 NOTCH3 CYP27A1 PDSS2 HP_DIPLOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIPLOPIA HLA-DRB1 ERCC5 AK9 SLC18A3 PTPN22 TGFB1 NFKB2 DKK1 ATXN3 NAB2 TMEM240 SPTBN2 GRK1 NF2 SNAP25 CHAT CHRND DARS2 NOP56 COL13A1 HLA-DQB1 ERCC2 SAG CHRNB1 EIF4G1 P4HA2 AGRN SERPINI1 PINK1 SCN4A PRKN CACNA1A AIP CHRNA1 MYO9A PODXL RAPSN GBA SDHA HLA-B SNCA TPP1 DOK7 GIGYF2 LRRK2 UCHL1 ERCC3 SCN1A CACNA1G SLC1A3 MEN1 CHRNE PRNP STAT6 DNAJC6 TOP3A CDH23 VAMP1 VPS13C MYO5A HTRA2 SLC2A1 VPS35 MUSK PDCD1 KCND3 DNAJC13 LRP4 PUM1 SYT2 PARK7 ATP1A2 SLC25A1 SLC5A7 PRRT2 MAPT KCNA1 ERCC4 ANO10 SYNJ1 HP_LOWER_EYELID_COLOBOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_EYELID_COLOBOMA SF3B4 POLR1C RIPK4 TXNL4A POLR1B EDNRA TCOF1 HP_SPARSE_EYELASHES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPARSE_EYELASHES MPLKIP SF3B4 GJB6 ODC1 EDAR DLX4 TSR2 FIG4 NOP10 LIPH POLR3A CWC27 CLDN1 ITGA3 TMCO1 SPINK5 RECQL4 ALX4 RNU4ATAC LPAR6 SNRPE KANK2 EDARADD MBTPS2 ZMPSTE24 WDR35 GJB2 DSG4 VAC14 ANTXR1 NECTIN4 NHP2 COL11A1 DOLK KRT25 EDA SMARCA2 GJA1 APCDD1 CDH3 BANF1 KRT74 DKC1 TP63 ALX1 CST6 KREMEN1 BLM EBP NECTIN1 LSS DPH1 B4GALT7 SOX18 HRURF EDNRA DSP LMNA TRPS1 RPL21 RMRP TCOF1 NF1 EPS8L3 DSC3 GTPBP2 TWIST2 HP_DECREASED_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM_AMPLITUDE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM_AMPLITUDE RHO RPE65 ALG3 LRAT ACOX1 IDS MCOLN1 SAG GUCY2D IDH3B RGR LARGE1 USP45 POMGNT1 BEST1 CYP4V2 PPT1 HP_ECTROPION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTROPION PLEC CERS3 CDC42 ABCA1 DLX4 ALOX12B ALOXE3 ITGB4 UROS RNF2 GRIA3 POLR3A SDR9C7 KMT2D ERCC5 MPLKIP CDH1 GTF2E2 FERMT1 ABHD5 RIPK4 MBTPS2 GATA1 ERCC3 ERCC2 ITGA6 XPA KDM6A NIPAL4 LIPN ERCC6 CTLA4 FLI1 TWIST2 ABCA12 HNRNPK TGM1 DHODH CD28 CARD14 CTNND1 FOXL2 ERCC4 TNFRSF1B CYP4F22 XPC APC UROD PNPLA1 SULT2B1 DDB2 FOXC2 TARS1 GBA RNF113A GTF2H5 LRP4 POLH HP_OCULOMOTOR_APRAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCULOMOTOR_APRAXIA RORA MRE11 CC2D2A TOMM40 CWF19L1 KIAA0586 AHI1 CEP290 PIGL PNKP ARL3 ARMC9 INPP5E CSPP1 TYROBP CEP120 TCTN2 PGAP2 KIAA1109 TMEM107 GRID2 GBA HYLS1 TMEM231 PIGV MYO9A CEP41 KDM1A PEX2 SPR BRAF DLAT SORL1 SETX APP IFT172 MAST1 RPGRIP1L XRCC1 CPLANE1 ARL13B PIK3R5 TMEM237 PIGY CEP104 LAMA1 TMEM67 AFG3L2 DNM1L KATNIP MAPK1 PIBF1 TUBB3 TPP1 ZC4H2 CBY1 TCTN1 NGLY1 ITPR1 ABCA7 MAPT B9D1 TREM2 ATP1A2 NPHP1 SLC30A9 MKS1 PIGO EXOSC3 FA2H GPAA1 PSEN2 TOGARAM1 ABCD1 STUB1 CACNA1G UFC1 SLC1A3 SUFU CACNA1A TMEM216 APTX PMPCA PIGW ATXN2 TOE1 ATP1A3 TMEM138 CRKL BCR PDE6D SQSTM1 PSEN1 SOX3 PGAP3 HP_EYELID_APRAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EYELID_APRAXIA PANK2 ATP13A2 PLA2G6 MAPT SYNJ1 HP_PETERS_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PETERS_ANOMALY FOXC1 CENPF PITX2 RERE PAX6 B3GLCT WDR37 FOXE3 CRPPA TRIM44 CDH2 POMT2 FKTN PITX3 POMT1 CYP1B1 LARGE1 FKRP NCAPG2 HP_LIPEMIA_RETINALIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIPEMIA_RETINALIS LPL G6PC1 GPIHBP1 APOC2 SLC37A4 HP_NYCTALOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NYCTALOPIA PROM1 SAG CNNM4 ABCA4 GNB3 BEST1 PCARE CA4 FLVCR1 ARL2BP CNGA3 CRB1 CYP4V2 ADGRV1 RBP3 GUCY2D MFN2 C1QTNF5 LRAT NYX PDE6A OFD1 PRPH2 CACNA1F RLBP1 NMNAT1 PRPF4 REEP6 CRX PDE6G PDE6B TLCD3B IDH3B IDS INPP5E USH2A TRPM1 EYS PEX26 PRPF3 CHM RPE65 DHDDS IMPG2 GNAT1 MYO7A MERTK CEP78 COG4 PRCD IMPDH1 ROM1 RPGR NR2E3 HADHA POC1B KIAA1549 IDH3A TRAPPC9 RHO SNRNP200 RGR CWC27 PEX10 PRPF31 ZNF408 CABP4 TIMP3 RP9 ESPN TOPORS RP1 BBS2 USH1C GUCA1B MYO6 AIPL1 LCA5 ADAM9 ARHGEF18 NRL BBS4 PEX3 PDZD7 TRNT1 RP1L1 CLRN1 IFT88 OAT MVK FSCN2 SPATA7 PEX14 CNGB1 SCAPER SEMA4A CERKL AGBL5 GPR179 PEX2 ARSG KCNV2 PEX6 RNU4ATAC PEX13 MFRP CLCC1 WHRN SLC7A14 RAB28 PEX5 ARL3 ZPR1 PEX19 LRIT3 ATF6 DRAM2 RDH11 HK1 KIF3B CACNA2D4 ARL6 GGCX GRK1 AHR CDH23 TTPA IFT172 PCDH15 CNGA1 PEX1 GUCA1A ITM2B CDHR1 PHYH VPS13B RAX2 TULP1 MAK PRPF8 HGSNAT ELOVL4 DPAGT1 IFT140 PEX7 MMP19 AHI1 DHX38 KCNJ13 GRM6 KLHL7 ZNF513 CFAP418 HARS1 PEX11B FGFR2 FAM161A PITPNM3 KIZ TTC8 RIMS1 POMGNT1 OPN1MW NEK2 CNGB3 RPGRIP1 UNC119 YARS1 CFAP410 PEX12 TTLL5 PRPF6 RDH5 RDH12 PEX16 TUB POU3F4 CIB2 MTTP RP2 SLC24A1 MT-TS2 PDE6H USH1G STIM1 OPN1LW HSD3B7 HP_HORIZONTAL_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HORIZONTAL_NYSTAGMUS CACNA1A SPTBN4 SCN1A SIX6 ERLIN2 SURF1 MARS2 TAF2 CACNA1G IARS2 CWF19L1 KCND3 ITPR1 BEAN1 LYST ADAR SNIP1 SPTBN2 OPA1 TTBK2 UROC1 TMEM126A HPS5 GPR143 GCH1 GRID2 IQSEC2 FAR1 TBC1D24 LARGE1 MAB21L1 GRM1 NFIX PAX7 STUB1 KIF1C LRP5 GATA3 SACS AIFM1 FA2H THG1L ATP13A2 AP3B1 PEX5 NUP62 CNGB3 ALG13 GBA PSAP SYT14 ALDH18A1 BLOC1S3 MT-ATP6 PET100 MRPL12 LMNB1 HPS4 POLR3B KCNV2 DNM1L ATP1A2 COQ5 DAB1 PLP1 HPS3 FRMD7 PRRT2 HARS1 TPP1 DPP6 SOX3 ANO10 HP_PHTHISIS_BULBI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHTHISIS_BULBI MARK3 CDH11 NIPBL BCOR BRD4 LRP5 SMC1A ATOH7 HDAC8 SMC3 RAD21 COL18A1 HP_HYPODONTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPODONTIA NSD2 HMGA2 GTF2I WNT10A CACNA1A GTF2IRD1 POLR3A PUS7 FOXC1 ARL6 DYNC2LI1 DDX59 RBM28 CDH1 TERT OFD1 TRIO IRF6 TBX3 DNAJC21 SYNJ1 EDARADD TERC TP63 RPS6KA3 CDK19 SLC13A5 NHP2 FGD1 NELFA PRKAR1A KCNA2 WNT5A CCDC28B CTSK GABRG2 NECTIN1 FLNB PITX2 TRAF6 APC2 NFKBIA FGFR3 POLR3K IFT43 PTH1R CNKSR2 NECAP1 CLTC NXN METTL27 TBL2 GABRB2 PIGL POLR3B XYLT1 EP300 CELF2 CKAP2L NTRK2 NKX2-1 GABRA2 OTUD5 TRAK1 EDAR IRX5 RNF13 CTBP1 HCN1 MSX1 SLC1A2 PARN BBS1 DKC1 NOP10 FGFR2 ROR2 ZMPSTE24 CFAP418 FGFRL1 LMNA EDA WDR19 GRHL2 CPLX1 IKBKG IFT122 NCF1 POP1 ARV1 TINF2 RFC2 TRIM37 APC DNAJC30 POLR1C FGF13 NPM1 GDF5 ATP6V1A ACTL6B BCL7B LRP4 PIGG EVC2 UBA5 CEP85L LEMD2 LAMC2 AP3B2 DNM1 PRKACB KCNB1 CLDN1 DVL1 FGF3 CLIP2 CEP152 EVC ABHD11 SCUBE3 CHSY1 NSD1 KDM6A LETM1 LAMA3 ELN ACOX1 GRHL3 KMT2D GLI1 EIF4H ITGB4 LAT2 HSPA9 STX1A GABRA5 ATP6V1B2 CREBBP CYFIP2 IFT52 SMARCAL1 SETD2 CACNA1B PARS2 PORCN MLXIPL TSPEAR AARS1 BUD23 SCN3A KIF1C KDF1 SLC39A13 LIMK1 CLDN3 EEF1A2 MTX2 BCL11B FGF10 BAZ1B COL17A1 DHDDS SCN8A STXBP1 ADAMTS2 DVL3 WWOX PERP YWHAG RTEL1 PIK3R1 SYNGAP1 FGF12 WRAP53 USB1 GTF2IRD2 KCNN3 LEMD3 GRIN2D PPP3CA FKBP6 CTC1 CLDN4 KCNH1 VPS37D NUS1 RMRP DALRD3 SZT2 LAMB3 MBTPS2 FZD2 PPP2R3C TMEM270 WDR35 SMG8 TRPV3 HP_CARIOUS_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARIOUS_TEETH TENT5A TRPS1 GTF2I CNNM4 LAMB3 B3GALT6 SATB1 CDH11 HERC2 GTF2IRD1 TGFB1 PARN GJB6 ADGRV1 RBM28 TERT CA2 TERC ERCC8 FGF10 SGMS2 USH2A NHP2 GALNS ABL1 ATP6V0A2 TBCE CDH1 PLEC TP63 GJB2 CTSK FAM111A FGFR3 SBDS FERMT1 MYO7A RNF113A METTL27 SFRP4 TBL2 PEPD EP300 COL2A1 SEC23A CLCN7 GJA1 PAX1 AKT1 GLB1 UBE3B NDN PTEN SLC10A7 DKC1 CDH3 PDZD7 NOP10 ERCC3 FGFR2 SLC37A4 ERCC2 MMP1 PTCH1 NCF1 DNAJC21 TINF2 RFC2 AP3B1 SUFU COL3A1 DNAJC30 ALPL EFL1 NPM1 SRCAP ATP6V1A SNRPN COL7A1 BCL7B MAGEL2 OCRL GTF2H5 IFT52 WHRN LAMC2 SEC24C APC RECQL4 KDELR2 COMT SHOC2 MAPRE2 JMJD1C CLIP2 COL17A1 THOC6 MPLKIP ABHD11 PTCH2 TNFSF11 LAMA3 ELN RUNX2 IFIH1 COX4I2 EIF4H IRF5 ITGB4 LAT2 MBTPS2 STX1A CTNND1 VDR CREBBP ATR MMP13 TARS1 CCR6 BUD23 SRP54 HIRA SNORD116-1 OFD1 LIMK1 PPP1CB CLDN3 TBX1 BAZ1B FGF3 TCIRG1 HLA-DRB1 COG6 ERCC6 UFD1 CCN2 PERP GTF2E2 SLC24A4 RTEL1 ENPP1 KLK4 KRT14 PWRN1 WRAP53 USB1 GTF2IRD2 GP1BB MKRN3 PWAR1 ATP6V1E1 FKBP6 ARVCF CRLF1 CTC1 CLDN4 NPAP1 AGA ANAPC1 VPS37D ACP4 MLXIPL CAV1 NECTIN1 RREB1 TMEM270 SNORD115-1 PKP1 TRPV3 HP_ANODONTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANODONTIA ERCC8 RPS6KA3 FLNA EDARADD NECTIN1 IFT122 EDAR DCAF17 FZD2 ERCC6 ERCC4 GRHL3 EDA DVL1 WNT5A DVL3 ERCC1 HP_MACRODONTIA_OF_PERMANENT_MAXILLARY_CENTRAL_INCISOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACRODONTIA_OF_PERMANENT_MAXILLARY_CENTRAL_INCISOR GRIA3 TBC1D24 KCNMA1 VPS13B FARS2 BRF1 ATP6V1B2 COL11A1 CTCF GJA1 HP_ABNORMALITY_OF_THE_INCISOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_INCISOR MYT1L DLL1 KMT2E LRP6 CCDC32 DLX4 SIX3 ALX3 PTCH1 FGFR1 DYNC2LI1 ZIC2 IKBKG NTNG1 STIL IRF6 BCOR GLI2 WNT10A TDGF1 FGF8 WDFY3 EDARADD PAX9 BMP4 TP63 ANKRD11 MSX1 DISP1 SLC12A2 STAG1 GRIA4 GAS1 TGIF1 FOXH1 GATAD2B EVC ACTL6B KCNMA1 BLM EP300 ATP6V1B2 NODAL HUWE1 STAG2 HS2ST1 BPTF GRIA3 CDON PUS7 PTPN23 DLX3 UBR7 SHH NEK1 BRF1 CTCF DOCK7 FARS2 FGFR2 GJA1 RLIM CDH1 ACTL6A MAPK8IP3 HPDL ATRX BCORL1 KDM4B RIPK4 PSMD12 NECTIN1 AGO2 EDA PALS1 JARID2 SMC1A TGFA ZMIZ1 PURA EVC2 WASF1 SCUBE3 CHSY1 ARHGAP29 GLI1 CCBE1 CNOT1 VPS13B TRIP12 CREBBP SVBP TANC2 MED27 DNMT3A TUBGCP2 SUMO1 EIF4A3 CNOT3 TCF20 TBC1D24 KAT8 DPYSL5 RNF2 AXIN2 DDX6 MED13 NTNG2 FGFR3 NHS DOCK3 FGF10 COL11A1 WNT10B KCNK9 HTT B3GLCT DLG1 TNRC6B NAA10 TRMT1 TRAPPC4 SATB1 FBXW11 SUFU MADD HP_OLIGODONTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIGODONTIA FLNA LRP6 SATB2 KCNJ2 POLR3B PPP1R15B MAP3K7 TGFA CLDN1 DVL1 PTHLH AXIN2 DVL3 CEP152 FGFR1 PAX9 SLC25A24 HNRNPK POLR3GL MAF PIK3C2A SCUBE3 CHSY1 IRF6 SH3BP2 BCOR POLR3A RHOA WNT10A TRMT10A EDARADD CCBE1 TP63 ANKRD11 MSX1 HUWE1 WNT10B NEPRO KREMEN1 KCNJ5 WNT5A ATP6V1B2 PORCN SRCAP RPS6KA3 SUMO1 PTH1R FZD2 EDA LTBP3 BCL11B UBR1 HP_DENTAL_CROWDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DENTAL_CROWDING C12orf57 PLCB4 ATR SATB2 GNB2 CCDC47 BMP2 TPM3 DVL1 TECPR2 ARL6 AMMECR1 UPF3B SPEN BCOR ROR2 PCGF2 TRIO SCUBE3 SET MYH3 GNAI3 COL3A1 POLD1 FGFR2 MYL2 EDN1 ATP6V1E1 NSDHL KIDINS220 BANF1 ABL1 DDR2 CREBBP NONO ASXL3 ZEB2 DSE FBN1 PEX6 CCDC28B DHCR7 SNX14 FREM2 MGAT2 MED12 EMC10 MTX2 MASP1 SOX5 EDNRA SMC1A PLOD1 IL6ST CBS SHANK3 SCARF2 MADD XYLT1 EP300 PIGK FRAS1 SETBP1 LGI4 SETD5 HACD1 GRIP1 TAB2 KCNJ2 ACTA1 RPL10 NOTCH3 H19 FGFR1 SMS BBS1 AMER1 SPECC1L COL1A2 ZMPSTE24 SELENON LMNA GJA1 COL5A1 TPM2 LOX ZDHHC9 IGF2 WNT5A TRIM37 INSR KIF15 RPS6KA3 KCNJ5 TAF6 IL1RAPL1 MAP3K20 NAA10 FLCN OCRL TRPS1 ITGA7 HP_DELAYED_ERUPTION_OF_PRIMARY_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_ERUPTION_OF_PRIMARY_TEETH ERCC8 FLII ERCC6 EDNRA FGF10 RUNX2 ERCC4 RAI1 CTSK DEAF1 FGFR3 IQSEC2 FGFR2 ERCC1 LEMD2 HP_DELAYED_ERUPTION_OF_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_ERUPTION_OF_TEETH TENT5A LRP6 TRPS1 LONP1 HDAC8 SATB1 GNB2 BCOR SH3PXD2B POLR3A ERCC8 RAI1 PTHLH DEAF1 TRIP11 AMMECR1 GJB6 DYNC2LI1 ROR2 FLII GNAS ELMO2 WNT10A ZNF41 OBSL1 TCIRG1 EDARADD SLC9A7 TRIO PAX9 IDS TNFRSF11A ZNF81 MSX1 ERCC6 ATP6V0A2 FRMPD4 STX16 DMP1 PRKAR1A ZEB2 GJB2 AGTR2 PTCHD1 CTSK TNFSF11 TP63 APC2 ARX SBDS FTSJ1 PAK3 DPF2 SNX10 CHST3 SFRP4 NIPBL SEMA3E ARID1B SEC23A CLCN7 ATP6V1B2 SMARCB1 MIA3 ACP5 FGFR2 EDA CYP27B1 SYP DLG3 PIGF DVL1 SLC37A4 ZMPSTE24 PAPPA2 ADAMTS3 KAT6B TWIST2 LMNA GJA1 IKBKG DPYD DNAJC21 WNT5A SMARCC2 EFL1 GDF5 SETBP1 SMARCD1 MMP2 KCNJ2 CHD7 ANTXR1 DMD OCRL EVC2 ACSL4 ARID1A ZNF711 RAD21 ENPP1 IL11RA CNKSR2 LEMD2 MID2 SLC13A5 CYP2R1 RECQL4 SOX4 KDELR2 ARID2 TGFA ARHGEF6 SUOX FGFR1 EVC ERCC1 FAT4 FLNA PTCH1 RAB39B IRF6 GDI1 NSD1 FAM20A RPS6KA3 KCNH1 SMARCE1 RUNX2 GLI1 ALG13 THRA CCBE1 MECP2 MBTPS2 USP27X VDR CCDC8 NSUN2 CDH11 SETD2 PORCN SMARCA4 KCTD1 BRD4 SUMO1 SRP54 POLR3B EDNRA TSPAN7 TGFB1 SLC39A13 MED12 ABCA5 IQSEC2 TFAP2B ADAMTSL1 TBC1D24 MYSM1 FGF3 STAT3 STEEP1 AXIN2 LIG4 IL1RAPL1 PDE4D PIK3R1 AMER1 SMC3 NAA10 IGF1 UPF3B SP7 SMC1A USP9X FGFR3 TONSL CLCN4 FGF10 WNT10B ANAPC1 FGD1 SEC24D NPHS1 HCFC1 CUL7 EDA2R P4HB ERCC4 GHR SLC29A3 PDGFRB SNX14 SOX11 RIC1 UBR1 HP_HYPOPLASIA_OF_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_TEETH C12orf57 ATR CYP2R1 PLEC LRP6 AMELX HLA-DQB1 LAMB3 LONP1 SATB1 TGFA ERCC8 CLDN1 KIF7 COL17A1 FGFR1 RECQL4 DDX59 ERCC1 PGAP1 MPLKIP LAMA3 WNT10A SCUBE3 IRF6 GNAS ITGA6 UBR1 DNAJC21 ERCC4 NECTIN4 TRMT10A EDARADD IFIH1 KRT5 PAX9 EDAR TTC7A LMX1B FAM20C GALNT3 MSX1 IFT43 GJA1 VDR ERCC6 STX16 SMCHD1 SLC35A2 OCRL PORCN FGFR3 PEX1 SUMO1 TARS1 MTX2 RUNX2 RNF113A OFD1 SEC23A DLX3 FGF10 LAMC2 KRT14 ITGB4 COG6 ROGDI SLC12A2 NUP133 AXIN2 CYP27B1 ALDH3A2 CREBBP MMP1 GTF2E2 PIK3C2A ENPP1 PCNT NEK1 ERCC3 PPP1R15B RHOA FGFR2 ERCC2 ODAPH SMARCA2 GRHL2 ZMPSTE24 IFT122 HLA-DQA1 TRIM37 COL7A1 WNT10B ITGB6 AIRE FLNB ACP4 CSTB LMNA EP300 KCNJ2 AMBN EDA NF1 GTF2H5 HP_WIDELY_SPACED_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDELY_SPACED_TEETH SMARCA2 TBL1XR1 LRP6 HDAC8 SATB1 PIGA CCDC47 DLX3 UBE3A TGFA ERCC8 EIF2S3 FGF3 FGFR1 ERCC1 PCGF2 KANSL1 IRF6 WDR35 GPR101 NECTIN4 WNT10A EDARADD NIPBL KMT2D RPS6KA3 PAX9 IDS OCA2 KDM1A MAN2B1 WDR26 MSX1 IFT43 AIMP2 ACVR1 GALNS ERCC6 NONO SIN3A KIAA0753 ZSWIM6 TP63 AIP TBCD MBD5 PRKD1 IFT140 BRD4 SUMO1 SMC1A RDH11 MAPK1 ATP6V1B2 SSR4 LTBP3 TBC1D24 SNRPN GLB1 CDC42 LARP7 GUSB TBX4 MED27 AXIN2 SHANK3 TCF4 CDH3 SMC3 MECP2 PIGS PPP1CB KATNB1 HK1 MED13L KDM6A IFT122 DYRK1A AFF3 CERT1 TANC2 WNT10B CDK19 CHST3 B3GLCT ACP4 PIGL DPH1 NARS1 ERCC4 EDA RNF113A ZEB2 SETD1A IFT52 RAD21 ADNP HP_DENTAL_MALOCCLUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DENTAL_MALOCCLUSION PLCB4 ATR ENAM TENT5A LRP6 AMELX TRPS1 KDELR2 GTF2I GPR68 BMP2 GTF2IRD1 TGFA DVL1 RDH11 DSPP CLIP2 FGFR1 THOC6 FLNA ABHD11 PCGF2 IRF6 RELT ARHGAP29 KDM6A CA2 ELN WNT10A GNAI3 TSPAN7 EDARADD TCIRG1 RPS6KA3 PAX9 EIF4H BMP4 BCOR MSX1 BRAF LAT2 EDN1 MBTPS2 STX1A SOS1 MAP2K1 ATP6V1B2 SMAD3 CREBBP SMCHD1 PRKAR1A CDH11 PTPN11 CHRNE PCYT1A FREM2 PORCN MLXIPL SUMO1 BUD23 AGO2 ERCC8 PLEKHM1 METTL27 TBL2 GPC4 SHANK3 EP300 SLC39A13 LIMK1 CLDN3 DLX4 TP63 FRAS1 NECTIN1 MYOD1 BAZ1B PAX1 GRIP1 CDC42 IRX5 OBSL1 ACP5 SATB2 FGFR2 MMP20 AXIN2 PYROXD1 HSPG2 FAT4 AMER1 KLK4 PIK3R1 BRF1 RHOA GPC3 CLCN7 GNAS GFPT1 DVL3 SH3PXD2B GTF2IRD2 KCNN3 DPM2 SMARCA2 HNRNPK GJA1 SKI ASPH CDH1 NCF1 DCHS1 RFC2 SOST TRIM37 FKBP6 WNT10B ITGB6 CLDN4 DNAJC30 BRCA1 KCNH1 GLI2 VPS37D DLG1 FAM83H SH3BP2 LRP5 ERCC6 FLCN FGFR3 NOTCH2 TMEM270 EDA BCL7B HP_MICRODONTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICRODONTIA RECQL4 LRP6 AMELX TRPS1 TFAP2A GTF2I B3GALT6 UBE3B B3GAT3 PIGA CCDC47 NOP10 DLX3 GTF2IRD1 MCOLN1 TGFA MAPRE2 ATP6V0A2 FOXC1 FGF3 KAT6B CLIP2 SMARCAL1 FGFR1 ORC1 DYNC2LI1 EVC SLC25A24 ADGRV1 ABHD11 PCGF2 CHSY1 IRF6 WDR35 DNAJC21 NHP2 ELN WNT10A C1S EDARADD HEPHL1 KMT2D GLI1 PAX9 EIF4H USH2A P4HB LAT2 FAM20C MSX1 STX1A SMC3 GJA1 CHST3 TP63 IFT52 LAMB3 KIAA0753 NECTIN1 FGFR3 MLXIPL PRKD1 IFT43 IFT140 SUMO1 EYA1 BUD23 PLXND1 SMOC2 MYO7A METTL27 RBBP8 MAPK1 TBL2 ARID1B PIGL SEC23A LIMK1 CLDN3 CKAP2L LTBP3 BCL11B FGF10 PIK3R1 PITX2 BAZ1B SIX1 WNT10B EDAR DPF2 SATB2 EDA C1R AXIN2 EVC2 TMCO1 PIK3C2A WDR4 PCNT SNRPN PIGF CDH3 PDZD7 RHOA FGFR2 CTCF GTF2IRD2 TONSL SMARCA2 WDR19 KDM6A IFT122 NCF1 RFC2 FKBP6 COL3A1 CLDN4 DNAJC30 IDUA ANAPC1 VPS37D ATP6V1B2 SRCAP EDA2R REV3L TWIST2 TMEM270 GHR BCL7B WHRN HS2ST1 CACNA1C UBR1 HP_TOOTH_MALPOSITION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TOOTH_MALPOSITION ATR TRPS1 GTF2I HDAC8 GPR68 SATB1 PIGA SATB2 GNB2 CCDC47 TPM3 ALX3 ERCC8 EIF2S3 TECPR2 DSPP ARL6 AMMECR1 KANSL1 GPR101 WNT10A TSPAN7 RPS6KA3 PAX9 SMCHD1 PLCB4 ANKH BRAF AIMP2 BANF1 GALNS MAN2B1 ERCC6 MAP2K1 SMAD3 PRKAR1A ZEB2 CHRNE SIN3A STAG1 KIAA0753 ZSWIM6 FREM2 AIP MGAT2 PRKD1 EYA1 NXN TBL2 GPC4 SHANK3 EP300 LTBP3 TP63 SNRPN HACD1 GRIP1 LARP7 OBSL1 GUSB KCNJ2 NOTCH3 FGFR2 KCNMA1 NSDHL PYROXD1 SMS HSPG2 FAT4 PORCN BBS1 SSR4 COL1A2 DVL1 CDH3 BRF1 PPP1CB ROR2 GPC3 DOCK7 MED12 DVL3 FGFR3 DPM2 LMNA CDH1 LBR TPM2 LOX ZDHHC9 NCF1 RAI1 CERT1 INSR ATRX ITGB6 KIF15 DNAJC30 BRCA1 IL1RAPL1 HNRNPK DPH1 AEBP1 SMARCA2 BCL7B OCRL SETD1A IFT52 RAD21 ADNP ITGA7 ENAM TBL1XR1 ALKBH8 POLR1D RAB3GAP2 COL5A1 TGFA ACTL6B ERCC1 CHSY1 IRF6 SET ARHGAP29 NECTIN4 ELN KDM5C RUNX2 NOTCH2 NIPBL KMT2D TCIRG1 EIF4H OCA2 PACS1 KIDINS220 SOS1 ATP6V1B2 NONO CDH11 UBE3A PEX6 DHCR7 CA2 TBCD BPTF POLR1B BRD4 SUMO1 FBN1 BUD23 MTX2 EDNRA RDH11 PLEKHM1 PLOD1 SLC39A13 SCARF2 CLDN3 SOX5 CREBBP FLNA PIGK MYOD1 LGI4 TBC1D24 SETD5 SIX1 RPL10 TBX4 MED27 H19 TAB2 AXIN2 TCF4 PDE4D XRCC4 MECP2 ADAMTS10 KDM1A GFPT1 USP9X KATNB1 KCNN3 KDM6A POLR1C IGF2 WNT10B TAF6 KCNH1 GLI2 B3GLCT ACP4 MAP3K7 FAM83H SH3BP2 NAA10 LRP5 FZD2 TMEM270 EDA HMGB3 TENT5A LRP6 BMP2 GTF2IRD1 SPEN OFD1 TRIO BCOR RELT GNAI3 EDARADD IDS BMP4 POLR2A MYL2 EDN1 ANKRD11 MSX1 IFT43 TCOF1 ABL1 PRKACA PTPN11 WNT5A CCDC28B SNX14 MBD5 EMC10 MASP1 GATAD2B CNOT2 METTL27 MAPK1 CBS MADD XYLT1 DLX4 CUL4B WDR26 PAX1 GLB1 CDC42 IRX5 ACTA1 ACP5 FGFR1 UBE3B DLX3 AMER1 PIGS RHOA ZMPSTE24 GNAS SH3PXD2B HK1 SOBP MED13L GJA1 ASPH IFT122 AFF3 DCHS1 RFC2 TANC2 TRIM37 KCNJ5 PIGL FLCN PSMD12 FGF3 C12orf57 AMELX KDELR2 SMARCD2 CLIP2 THOC6 UPF3B ABHD11 PCGF2 SCUBE3 WDR35 MYH3 COL3A1 POLD1 LAT2 MBTPS2 ATP6V1E1 STX1A ACVR1 DDR2 ASXL3 DSE PCYT1A DNMT3A TUBGCP2 MLXIPL IFT140 AGO2 SMC1A IL6ST LIMK1 FRAS1 NECTIN1 SETBP1 BAZ1B PTEN RNF2 MMP20 ADAMTS2 SPART SPECC1L KLK4 PIK3R1 SMC3 IFT57 CLCN7 SELENON PTH1R GTF2IRD2 NHS SKI DYRK1A SOST FKBP6 CDK19 CLDN4 CHST3 VPS37D DLG1 TWIST1 MAP3K20 RAB3GAP1 NARS1 ERCC4 RNF113A RIC1 HP_NATAL_TOOTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NATAL_TOOTH GLI3 FAM20C FGFR2 CREBBP MKS1 POLR3A LMNA KRT6B BCL11B DSP AMER1 KRT17 FLNA SPECC1L ZMPSTE24 NEK1 EHMT1 KRT16 JUP KDM6A CEP120 C2CD3 EVC KDF1 EP300 EVC2 PTH1R CILK1 INTU KMT2C KRT6A HP_DELAYED_ERUPTION_OF_PERMANENT_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_ERUPTION_OF_PERMANENT_TEETH TBC1D24 LRP6 MSX1 MIA3 WNT10B ROR2 TGFA GJA1 AXIN2 CTSK SETD2 FGFR1 APC2 NPHS1 PIGF SUMO1 IRF6 RUNX2 KCNJ2 NSD1 SLC37A4 EDA WNT10A FAM20A SMARCB1 EDARADD TFAP2B TONSL PAX9 ATP6V1B2 ADAMTSL1 HP_CONICAL_TOOTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONICAL_TOOTH LRP6 ATP6V1B2 IKBKG IRF6 PRKACB SATB2 ANAPC1 TGFA SMARCD2 FGF3 AXIN2 EVC2 FGFR1 DYNC2LI1 EVC CDH1 NEK1 ARHGAP29 RHOA NECTIN4 WNT10A EDARADD FGFR3 ALX4 GLI1 FGFR2 EDA PAX9 BMP4 CCBE1 MSX1 DHODH CTNND1 FGF10 ATP6V0A2 WNT10B PRKACA B3GLCT TP63 DLG1 NFKBIA RUSC2 SUMO1 TSPEAR ARID1B DLX4 NECTIN1 HP_DIASTEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIASTEMA PACS1 ANKRD11 RNF2 ATRX ALX3 PRKACA RDH11 KCNMA1 UBE3B STAG1 ACTL6B DNMT3A MGAT2 TUBGCP2 CHSY1 GATAD2B IFT57 KDM5C NHS HMGB3 HP_PERIODONTITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIODONTITIS C1R NHP2 COL3A1 FGF3 SRP54 TINF2 AP3B1 MIA3 GFI1 SLC35C1 PLG CTC1 LYST ELANE CTSC NPM1 PARN CAT GORAB TERT RTEL1 AEBP1 FERMT1 DKC1 NOP10 ITGB2 WRAP53 SLC37A4 TCIRG1 C1S TERC OCRL USB1 CXCR4 NOTCH2 HP_AMELOGENESIS_IMPERFECTA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMELOGENESIS_IMPERFECTA ENAM WDR72 SLC13A5 AMELX CNNM4 GPR68 SATB1 ORAI1 ROGDI ITGB6 MMP20 SMARCD2 ACP4 LAMB3 FAM83H SLC24A4 SLC10A7 PEX1 KLK4 TMEM165 AMTN FAM20A RELT DNAJC21 AMBN CLDN19 LAMA3 DLX3 ODAPH STIM1 LTBP3 HP_ERUPTION_FAILURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERUPTION_FAILURE FGFR1 APC PTH1R SH3BP2 TCF4 HOXD13 ANTXR1 ZMPSTE24 CDH11 FLNB IFIH1 LMNA SMCHD1 TRIO MAP3K7 FLNA LEMD2 HP_PSYCHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSYCHOSIS PSEN1 ABCD1 SIM1 FCGR2B CHRNA4 PCDH19 NHLRC1 MT-TS1 MT-TL1 HERC2 PITRM1 MT-ND6 NAGS TREX1 GCLC UPF3B FUZ NDP CRH MMACHC MAPT GSS PDE11A C9orf72 KCNT1 SPG11 DNMT1 PRNP FTL FAR1 MAGEL2 MTHFR WFS1 CLN3 MT-CO2 TMEM106B STAT4 MT-TS2 GRIN2A PUS3 SNRPN ZFYVE26 ATXN7 ALDH18A1 IRAK1 PPOX TBC1D7 MT-ND1 CHMP2B MECP2 RPS6KA3 MYORG DEPDC5 MED12 DCAF17 TWNK MT-ND5 FRRS1L EPM2A SNORD116-1 SLC6A19 SPP1 MT-TH PDGFRB VCP CHRNA2 TTC19 SLC12A6 FIG4 USP8 MT-CO3 ATP13A2 AIP ACADS PRDM8 HMBS CBS NDN MT-CO1 SQSTM1 CACNA1A NPC1 SLC25A13 SPART PTPN22 PARK7 CPOX PWRN1 PAK3 ALDH5A1 CABP4 ALDH4A1 GNAS SOBP MKRN3 MT-TF PWAR1 FCGR2A PANK2 PDGFB SLC7A7 ZDHHC9 OCA2 MT-TQ TREM2 NPAP1 DNASE1 CTLA4 NPC2 GRN PRKAR1A MT-TW HFE CDH23 VPS13A SLC20A2 PAH ITM2B MT-ND4 SNORD115-1 CHRNB2 HP_HYPERORALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERORALITY TMEM106B PSEN1 CHMP2B MAPT C9orf72 DCTN1 UBE3A TREM2 GRN ATP10A SHANK3 SNRPN VCP SQSTM1 HP_RESTLESSNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESTLESSNESS HSD17B10 PSEN1 PRNP HNF4A ABCC8 TOMM40 KIF11 SATB1 AMT TSHR PPARGC1A NGLY1 TAF15 SQSTM1 NAGS SLC13A5 SUOX PTS MAPT GABBR2 CHMP2B CFAP410 HNF1A STXBP1 PDE11A C9orf72 COX10 ATXN2 EIF2S3 TSEN54 NTNG1 KDM5C UCP2 CHCHD10 HMBS SPTBN1 TREM2 TMEM106B UNC13A TARDBP SORL1 LSS FIG4 VAPB EIF4G1 APP PINK1 RNF13 PRKN HNRNPA1 MATR3 MECP2 TBK1 DEAF1 PODXL VCP GRN GCSH GBA GLDC HTT SNCA KCNJ11 ANXA11 CCNF GIGYF2 LRRK2 UCHL1 SMC1A DCX PFN1 DCTN1 PON2 ABCA7 IGF1R ANG SATB2 PON1 CDKL5 ZBTB20 SLC19A3 SOD1 NDST1 DNAJC6 CACNA1A SLC25A13 VPS13C GLE1 PAK3 PON3 PSEN2 ECE1 SLC2A3 GLT8D1 OPTN ERBB4 ALAD HTRA2 GNAS MED13L EPHA4 ADA2 VPS35 UBQLN2 PLPBP DAO BRAT1 DNAJC13 NEFH FUS PRPH SPAST AFF2 SRCAP PRKAR1A PARK7 CLN8 NEK1 WAC ALDH7A1 ACAT1 CYP27A1 SYNJ1 HP_EMOTIONAL_LABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMOTIONAL_LABILITY HLA-DRB1 SLC39A4 SARDH SURF1 PSAP NTRK1 PPARGC1A ARSA TAF15 GRIN2A GNA11 MTPAP SQSTM1 NAGS FUZ EPM2A GALC MIR17HG SLC6A17 DMPK CHMP2B CFAP410 SCN8A SMARCB1 PDE11A ELP1 PET100 SPG11 ATXN2 PRNP FTL C9orf72 HLA-DQB1 BSND LEPR CHCHD10 SPTBN1 NDUFA9 TREM2 AKT1 PGK1 NDUFA12 NDUFAF6 VCP UNC13A NDUFS2 TARDBP NDUFS3 FIG4 BAP1 VAPB COX15 EIF2B1 CREBBP HNRNPA1 CASR NDUFA10 MATR3 PIK3CA NF2 NDUFV2 TBK1 SMARCE1 GABRG2 PRKACA MECP2 VPS13A SPART LAS1L ATP1A3 MED12 NDUFA2 EIF2B5 CTSF NDUFA13 ANXA11 BCS1L TUBB3 NHLRC1 CCNF SLC6A19 NDUFV1 EP300 MTFMT FMO3 NOTCH3 PLA2G6 NDUFS7 SMO PFN1 DCTN1 PDGFB USP8 PON2 NDUFA4 ANG TERT B4GALNT1 ATP1A2 SATB2 AIP PON1 NDUFS1 C19orf12 SOD1 CLCNKB GLE1 PON3 GLT8D1 OPTN ERBB4 EIF2B4 TACO1 SDHA GNAS EPHA4 LIPT1 SLC19A3 CLTRN POLG PANK2 UBQLN2 TRAF7 SLC1A3 DAO FOXRED1 PDCD1 EIF2B2 CACNA1A NEFH FUS SRPX2 PRPH NDUFS4 SUFU PRKAR1A NDUFS8 CLCNKA NDUFAF5 NEK1 EIF2B3 NDUFAF2 HDAC8 PDHA1 ECHS1 DDC RNF168 HP_AGITATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGITATION HNF4A ABCC8 TOMM40 KIF11 SATB1 TSHR PPARGC1A TAF15 SQSTM1 NAGS SUOX PTS GABBR2 CHMP2B CFAP410 HNF1A STXBP1 PDE11A COX10 ATXN2 EIF2S3 C9orf72 NTNG1 UCP2 CHCHD10 SPTBN1 TREM2 UNC13A TARDBP SORL1 LSS FIG4 VAPB EIF4G1 APP PINK1 PRKN HNRNPA1 MATR3 MECP2 TBK1 DEAF1 PODXL VCP GBA HTT SNCA KCNJ11 ANXA11 CCNF GIGYF2 LRRK2 UCHL1 SMC1A DCX PFN1 DCTN1 PON2 ABCA7 IGF1R ANG PON1 CDKL5 HSD17B10 SOD1 NDST1 DNAJC6 CACNA1A VPS13C GLE1 PAK3 PON3 PSEN2 ECE1 SLC2A3 GLT8D1 OPTN ERBB4 ALAD GRN HTRA2 GNAS MED13L EPHA4 ADA2 VPS35 UBQLN2 DAO BRAT1 DNAJC13 NEFH FUS PRPH SPAST AFF2 PRKAR1A PARK7 NEK1 WAC ACAT1 PSEN1 CYP27A1 SYNJ1 HP_DEPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEPRESSION GNRH1 GTF2I PPARGC1A TAF15 GRIN2A GNA11 PTCH1 PTPN22 MT-ND6 NSUN2 ADGRV1 PTS GRIK2 CDKN2B MAPT MAMLD1 KISS1 CHMP2B AIMP1 GNAS GPR101 NR1H4 DNMT1 DLL1 PRNP TDGF1 FGF8 WASHC4 SARS1 HLA-DQB1 HMBS CISD2 SPTBN1 USH2A GRM7 FGF14 PIK3CA TGFBR2 UBE4A MSTO1 VCP MT-TS2 MAN2B1 P4HA2 ATXN10 PMS2 STX16 SIX3 UFSP2 NDST1 MATR3 TBK1 TSHB AIP GABRG2 CEP78 MLH3 WDR11 POLG2 MSH2 GBA FOXH1 POLG ANXA11 TBL2 BCS1L TRAPPC9 SGCE GIGYF2 PDGFRB TWNK PINK1 ATP8B1 TBP ANG CRBN CARS1 GLI2 TACR3 ZIC2 SEMA4A TSC1 TSC2 PDZD7 FMR1 CACNA1H VPS13C CABP4 PROK2 UBQLN2 GLUD2 PDCD1 NCF1 FGF17 FA2H TMEM106B TGIF1 C9orf72 DNAJC30 GSN B3GALNT2 RRM2B MT-TW TREX1 BCR KCNJ2 BCL7B OCRL WFS1 TOR1A PLA2G6 DISP1 FRRS1L LMNB1 CEP85L SEC24C CPOX SHH COMT TK2 XPR1 PPP2R2B DNA2 JMJD1C SQSTM1 PGAP1 DMPK ATXN8OS CDKN1B CRH ELN DEPDC5 LINS1 NODAL EIF4H KCTD17 SPRY4 DRD2 TREM2 UNC13A PER3 CDON HNRNPA1 CASR FMO3 FGFR1 IDUA BUD23 HNMT MT-TL1 HIRA PSAP NHLRC1 CLDN3 SLC18A2 NSMF LRRK2 UCHL1 PPT1 PFN1 TBX1 PON2 SNCA SLC12A2 SLC7A6OS EHMT1 SMPD1 SLC45A1 MECP2 ABCB11 DNAJC5 ABCA7 PON3 SLC2A3 FAN1 OPTN ERBB4 PSEN1 DUSP6 MT-TF VPS35 PANK2 JRK CDKN2C MT-TQ ARVCF CDKN1A NCDN SPAST PRKAR1A RREB1 CDH23 TMEM270 SLC20A2 CC2D1A TAC3 CRADD PAH AFG3L2 CLRN1 ABCB4 CHRNB2 SYNJ1 THOC2 FUS JPH3 CHRNA4 BMPR1A HTT MT-TN MT-TS1 MLH1 ARMC5 GTF2IRD1 HS6ST1 C12orf4 CHCHD10 KRAS CFAP410 KCNT1 GCH1 ADH1C CLCN4 PROKR2 TARDBP VAPB EIF4G1 MED25 GPR35 MYO7A PRKCG TBC1D7 ZC3H14 PODXL VPS13A GRN GAS1 TECR CTSF MED23 METTL27 CBS COQ2 MT-TH NOTCH3 IQSEC1 CHRNA2 TTC19 LMAN2L GLA CHD7 CLIP1 STAG2 CACNA1G TCF4 PON1 METTL23 PRSS12 C19orf12 USH1C GABRB3 MT-CO1 HLA-DRB1 RPS20 ST3GAL3 SLC2A1 GLE1 ALAD HTRA2 ALDH4A1 DCPS ATP7B MMP1 DNAJC13 RFC2 SEMA4D ATP13A2 USP8 GALT CRKL TTC5 FBXO31 PARK7 ARSG TET3 RSRC1 AR SLC25A4 NEK1 XK PER2 CYP27A1 MT-ND4 WHRN MT-TL2 EZR AARS2 PDGFB MAN1B1 ARSA SMC1A CLIP2 SNCAIP DGUOK ABHD11 EPM2A EDC3 ESPN DCTN1 PDE11A GNRHR ATXN2 UQCRC1 PCDH15 RELN FMN2 MSH6 MT-CO2 LAT2 STX1A FIG4 ALKBH8 CLN6 PRKN AMACR KISS1R MT-ND1 PRKACA RPS6KA3 ATP1A3 FLT4 EPCAM TNIK SDHA MT-ND5 HLA-B MAPK1 CCNF HARS1 LIMK1 STUB1 BAZ1B MT-CO3 KDM5B PIGC NR4A2 COASY SLC6A4 UFD1 PMS1 SOD1 DNAJC6 HTR2A MBOAT7 MST1 GLT8D1 AP2S1 GTF2IRD2 GP1BB EPHA4 CSF1R TRHR DAO ATRX CIB2 HLA-DQA1 FKBP6 NEFH MEN1 CLDN4 SRPX2 COL7A1 PRPH VPS37D GDAP2 MLXIPL LGI1 GABRA1 TUSC3 USH1G NEMF HP_AUTISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTISM RPL10 FMR1 GTF2I HDAC8 SATB1 ARNT2 AHDC1 CACNA1A CHRNA7 HERC2 GTF2IRD1 PTEN ALG13 SLC9A6 NDP MMP23B SYNJ1 WFS1 SH2B1 CDK19 ADSL SPTBN1 SLC13A5 FTCD ANKRD11 SPEN SNRPN KCNA2 TSC2 SIN3A EXT2 GABRG2 FGFR1 CNKSR2 NECAP1 PLXND1 CLTC METTL27 NIPBL TBL2 GABRB2 SEMA3E PIGL CELF2 KLLN NTRK2 PIK3CA SDHC GABRA2 TRAK1 PROKR2 MAGEL2 HCN1 HDAC4 RERE PRKCZ ZBTB20 SCN8A SHANK3 SLC1A2 MAN1B1 TSC1 PAH NAGA NDN NFIB ALDH5A1 ALAD GAMT IFNG MED13L LUZP1 NONO GJA5 STS YY1 MECP2 OCA2 NCF1 RAI1 ARV1 RFC2 BCKDK DNAJC30 DYRK1A IL1RAPL1 FGF13 SOX3 PDE4D ATP6V1A FLCN ACTL6B USF3 CHD7 BCL7B AUTS2 TBR1 CYP27A1 IQSEC2 UBA5 FTSJ1 RAD21 CACNA1C SEC24C TBX1 AP3B2 DNM1 SMAD4 SLC35C1 COMT KCNB1 JMJD1C CLIP2 MAOA ABHD11 KDM5C DMPK EHMT1 TCF12 ELN NLGN3 GABRA5 PTCHD1 HESX1 EIF4H GRIA3 LAT2 STX1A KCNAB2 GJA8 ASXL3 CYFIP2 SOX2 DPAGT1 DHCR7 NLGN4X CACNA1B UBE4B PARS2 DEAF1 BRD4 AARS1 MED12 BUD23 SCN3A SDHD HIRA SNORD116-1 LIMK1 CLDN3 PRKAR1A SKI EEF1A2 BAZ1B SDHB DHDDS OTX2 STXBP1 HNF1B HSPG2 ALG14 CREBBP UFD1 SEC23B WWOX TBCK YWHAG CASZ1 PRDM16 PWRN1 SYNGAP1 SMC3 LHX1 FGF12 SMC1A GTF2IRD2 GP1BB NHS MKRN3 MEIS2 PWAR1 ATRX GRIN2D TMLHE PPP3CA FKBP6 ARVCF CHD8 CLDN4 NPAP1 VPS37D NUS1 MLXIPL DALRD3 DPYD GATM SZT2 RREB1 REV3L EP300 TMEM270 AKT1 GABRD PDPN UBE3A SNORD115-1 SATB2 HP_AGGRESSIVE_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGGRESSIVE_BEHAVIOR CUX2 SMARCA2 PSEN1 ZMIZ1 HERC2 KIF11 CNTNAP2 PCDH19 SATB2 ANK3 PUS7 EIF2S3 VPS16 GRIN2A MAN1B1 SASS6 SPEN SLC6A17 KMT2A TRIO MAPT C9orf72 CAMTA1 LINGO1 ESS2 PRNP FBXW11 TRIP12 UROC1 PPP2R5D CLCN4 NBEA ADSL INPP5E SPTBN1 NSDHL MECP2 ATXN10 PUS3 TBX1 NEXMIF SIN3A UBE2A CACNA1A OCRL APC2 MGAT2 MBD5 NAGLU LINS1 VPS13A GCSH EEF1A2 WARS2 DPF2 DDX3X PRODH SHMT2 GLDC MAPK1 TCF20 FIG4 SCN1A ARID1B IMPA1 MAPK10 DGCR8 EP300 WDR62 FMO3 WDR45 DEAF1 VCP CUL4B SMARCB1 TTC19 TBP ATP1A2 RORB GRIA3 USP7 TTI2 ZBTB20 GABRD MANBA SHANK3 SMARCC2 TSC1 NDST1 SUCLG1 CACNB4 NFIB TSC2 PAK3 ALDH5A1 DPAGT1 ADNP PHIP GAMT IQSEC1 ALDH4A1 SLITRK1 MED13L CHMP2B SLC6A8 NONO ATP7B MED12L KDM4B AP1S2 KCNT1 DNM1 UBTF ATP1A3 SLC2A1 GRN SRCAP SMARCD1 HDAC4 TMEM231 ENTPD1 PSMD12 SYN1 WAC CHD2 JRK MED25 SETD1A CYP27A1 PLA2G6 POGZ FTSJ1 AFF2 DYNC1I2 ARID1A CEP85L USP9X SOX4 ARID2 AMT TYROBP SH2B1 ECM1 KMT2E MAOA EBP PDE2A BCOR KDM5C DMPK TMEM240 EHMT1 DGCR2 NSD1 SMARCE1 PIGH PTCHD1 HEPHL1 GABRA1 SPR KCNQ3 PACS1 TMEM106B ABCA2 CREBBP RLIM ATP13A2 UQCC2 DHCR7 SETD2 CILK1 BPTF DNMT3A SMARCA4 EFHC1 RUSC2 SARS1 MED12 DGCR6 SOX5 AGO2 FRRS1L NKAP FRMPD4 DPYD CTNNB1 FOXP1 HNRNPH2 HDC PYCR2 ADAT3 PIGY ODC1 TCF4 CEP152 GABRB3 CLN5 TIMM50 ALG14 HSD17B10 KDM3B SQSTM1 SLC25A13 MYT1L C12orf4 DPYSL5 PRRT2 CLCN2 SLC2A3 KNL1 MAB21L1 METTL5 RBBP8 FMR1 SLC1A3 FGF14 NAGS SLC52A2 DYRK1A BCAP31 TREM2 HTT NFASC SPAST ELP2 NDP NAA10 STEEP1 PAH ZMYND11 LEPR SOX11 IQSEC2 HP_INAPPROPRIATE_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INAPPROPRIATE_BEHAVIOR HSD17B10 PSEN1 SNRPN NTNG2 FOXG1 TYROBP DCTN1 UBE3A TBC1D2B CDKL5 GATAD2B GALC PSAT1 ATRX SLC19A3 ALG9 PDE2A PGAP1 SQSTM1 SLC6A17 SLC9A6 GABBR2 SLC18A2 STXBP1 MAPT PIGS C9orf72 NOVA2 IQSEC2 GNAS NTNG1 GRN MECP2 OCA2 ADSL CHMP2B ATP7B TMEM106B GLI3 PRKAR1B TREM2 KANSL1 KIF15 DYRK1A ATP10A VPS13A MBD5 PHGDH GM2A PSAP VCP SMC1A HP_MOOD_SWINGS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOOD_SWINGS TBX1 DGCR8 DGCR6 PSMD12 DEAF1 CUL4B ESS2 DGCR2 BPTF ZFYVE26 HP_OBSESSIVE_COMPULSIVE_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OBSESSIVE_COMPULSIVE_BEHAVIOR PANK2 USP9X PSEN1 YWHAG TBX1 GABRG2 GTF2I HDAC8 SLC35C1 SCN2A SCN9A FMR1 GTF2IRD1 PITRM1 VPS16 COASY SLC45A1 CLIP2 PCDH19 SCN1B TLK2 ABHD11 SLITRK1 SCN1A TRIO DMPK SIN3B EHMT1 MAPT C9orf72 GRIA2 GCH1 ELN MAGEL2 CLCN4 EIF4H KCTD17 DRD2 SPTBN1 TMEM106B STX1B LAT2 ADGRV1 STX1A STXBP1 CREBBP TKT MAP1B SNRPN GABRD MLXIPL CHMP2B VPS13A PPM1D BRD4 MED12 BUD23 GATAD2B MAPK1 METTL27 NIPBL TBL2 TCF20 SEMA3E ARID1B SGCE FOXP1 LIMK1 EP300 CLDN3 HNRNPH2 HDC FMO3 VCP TRRAP TTC19 NKX2-1 BAZ1B SETD5 CLN5 NR2F1 DPF2 SYNGAP1 HDAC4 USP7 CARS1 SLC6A4 SQSTM1 HTR2A NLGN1 NDN SMC3 AUTS2 HCN1 ADNP SLC2A3 SMC1A GTF2IRD2 KDM4B SIN3A OCA2 NCF1 RFC2 GABRA1 FKBP6 TREM2 CLDN4 DNAJC30 HTT VPS37D AFF2 GRN CRKL SRCAP BCR TMEM270 XK CHD7 UBE2A BCL7B OCRL PAH TOR1A UBE3A POGZ RAD21 HP_RESTRICTIVE_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESTRICTIVE_BEHAVIOR TMEM106B PSEN1 CHMP2B GABBR2 MECP2 STXBP1 NLGN3 MAPT C9orf72 TREM2 NTNG1 CDKL5 SNRPN NLGN4X VCP GRN SQSTM1 SMC1A SPTBN1 HP_PSYCHOTIC_EPISODES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSYCHOTIC_EPISODES MTHFR SLC7A7 PITRM1 PARK7 NAGS HMBS ATP13A2 HP_DEMENTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEMENTIA PSEN1 MAPT GBA FUS GBE1 JPH3 TOMM40 CCNF HTT NHLRC1 MT-TS1 RAB39B PRNP ATP7B NOS3 MT-ND6 TTR ASAH1 MT-ATP6 MT-CO2 TMEM106B CHCHD10 TYROBP MT-TV MT-TE HEXA SQSTM1 C9orf72 SPG11 DNMT1 FAR1 MBTPS2 ADH1C LRRK2 ADA2 APP CERS1 VCP MT-TS2 EIF4G1 ALDH18A1 APOE TARDBP PODXL LMNB1 TREX1 SNCB GRN GM2A ERCC8 CTSF HTRA1 MT-TH NOTCH3 AUH GIGYF2 WDR45 PINK1 HNRNPA2B1 ABCA7 TBP RNF216 TREM2 KCTD7 ROGDI SLC13A5 C19orf12 MT-ND5 SNCA MT-CO1 PRICKLE1 NPC1 POLG FMR1 VPS13C CUBN ZFYVE26 TBK1 MT-TW HTRA2 MT-TQ CHMP2B GLUD2 MPO IRF6 DNAJC13 APTX ATXN2 SCARB2 TUBA4A NPC2 PARK7 COL4A1 TYMP ATP6V1A MT-TC MECP2 VPS13A NOTCH2NLC UBQLN2 ATP13A2 WFS1 ITM2B PLA2G6 MT-ND4 AARS2 CSTB PDGFB PANK2 RRM2B ABCD1 MT-TL1 ARSA PDGFRB XPR1 PPP2R2B GBA2 SNCAIP MMACHC TIMM8A DGUOK EPM2A FBXO7 CYP27A1 ATXN8OS DCTN1 SDHAF1 MT-TF FTL CFAP43 CLN3 HFE CYLD MATR3 HLA-DQB1 SORL1 PRKAR1B TRPM7 ATXN3 TIA1 SERPINI1 MT-TK CLN6 PRKN PSEN2 DNM1L MT-ND1 ATXN10 TWNK CST3 OPA1 CISD2 PSAP CP UCHL1 HNRNPA1 GCDH MT-CO3 NR4A2 LYST PRDM8 DNAJC6 ERCC4 DNAJC5 SDHB ATN1 VPS35 MT-CYB CSF1R ATP6V1E1 PNPLA6 CLN8 SDHA DLAT SPAST STARD7 PRDX1 NDP ATP6V0A2 SPG21 TUBB4A PLAU SDHD SYNJ1 HP_FRONTAL_LOBE_DEMENTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRONTAL_LOBE_DEMENTIA CSF1R PARK7 TBP CHCHD10 VPS13C TYROBP TREM2 SNCA FTL PINK1 PRKN HTRA2 MAPT LRRK2 UCHL1 DNAJC6 PSEN1 SYNJ1 PODXL HP_AUTISTIC_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTISTIC_BEHAVIOR PSEN1 CCDC32 SATB1 CACNA1A HERC2 ALG13 NSUN2 GRIK2 SLC9A6 AIMP1 NDP SLC6A8 TNRC6B ASH1L RERE WDFY3 KMT2C WASHC4 PPP2R5D NBEA CDK19 SLC13A5 KDM5B ANKRD11 UBE4A MSTO1 SPEN MAP1B DEPDC5 GABRG2 NEXMIF SIN3A EXT2 CNKSR2 PLXND1 CARS2 KCNA1 SLC6A1 KCNMA1 TUBB3 GABRB2 TRPM3 NTRK2 VCP SDHC TRAK1 PROKR2 HUWE1 USP7 PRKCZ CDKL5 NDUFAF3 OTUD6B SLC1A2 SYP PIGP NDN DLG3 RSPRY1 ALDH5A1 NDUFC2 CTCF SRP54 DOCK7 EHMT1 MAPK8IP3 SIK1 ATP1A3 GJA5 MED13 AP1S2 NCF1 CUX1 CREBBP AP2M1 MT-ND1 B3GALNT2 CLP1 SOX3 SNRPN ATP6V1A COG5 NDUFS8 BCL7B SLC35A3 SCN1A IQSEC2 UBA5 FTSJ1 ACSL4 NAA10 CEP85L ZNF711 ADNP CACNA1C JARID2 NEUROD2 MID2 DMXL2 DNM1 BICRA ARID2 NTNG2 SLC35C1 MBD5 COMT PDE4D ZMIZ1 KDM5C DMPK PGAP2 SIN3B EPB41L1 DEAF1 ELN SLC25A1 ARID1B MAGEL2 RPS6KA3 EIF4H ALDH18A1 TMEM106B USP27X PACS2 GRIN2A NONO SVBP CYFIP2 TANC2 MED27 TAOK1 BRD4 AARS1 BUD23 HNMT TWNK SCN3A KAT6A SDHD SYNGAP1 CHD2 ATG7 HIRA SNORD116-1 MED12 CLDN3 HNRNPH2 LRRK2 UCHL1 EEF1A2 TBX1 SETD5 NLGN3 HIVEP2 SLC12A2 STXBP1 SIM1 HSPG2 WWOX SMG9 CAMTA1 TCF4 NLGN1 NDUFS4 PWRN1 AUTS2 DPYSL5 RALA SATB2 MECP2 USP9X STAG1 MKRN3 DOCK3 PWAR1 EXTL3 QRICH1 NDUFS3 CLCN4 CLN8 GRIN2D PPP3CA FGF13 NCDN SCN9A EIF5A TMEM270 CRADD PDPN CHD1 SYNJ1 RPL10 IREB2 AHDC1 PIGL PTEN GABBR2 ZIC1 ZNF41 PIGQ CLTC WFS1 ADSL PPP2CA STX1B ZNF81 NDUFS1 ADGRV1 FTCD LSS STAG2 TMEM216 GABRD ZC3H14 SBDS FGFR1 RNF135 PAK3 NAA15 ANK3 MED23 METTL27 MADD CELF2 NALCN PSMD12 CLIP1 HECW2 FOXG1 HS2ST1 HCN1 METTL23 PHACTR1 CUL3 ZBTB20 PUS7 PRSS12 SON PAH NAGA PIGS IFNG LUZP1 SETD1B AGTPBP1 RLIM KDM4B OCA2 DPYD ACTL6A DNAJC21 ARV1 RFC2 GABRA1 PIGW FOXP2 TAF1 NDUFAF4 NDUFV1 KCNA2 GALT FOXP1 TET3 RSRC1 BCORL1 NPRL2 USF3 NDUFAF1 SLC25A22 ARID1A RAB11B MAN1B1 SMAD4 SH2B1 KCNB1 ARHGEF6 CLIP2 MAOA SCN2A ABHD11 EDC3 DLL1 COX10 NSD1 NTNG1 SMARCE1 GABRA5 PTCHD1 WAC HESX1 STX1A GJA8 CIC TRIP12 EP300 PRKN CACNG2 CACNA1B SMARCA4 CHMP2B SLC2A1 SMC1A FRRS1L SNCA ANKRD17 SETD2 RTL1 MTOR SDHB DHDDS NDUFAF8 STEEP1 OTX2 SCN8A MT-ND3 PACS1 ALG14 DDX6 TBC1D23 NDUFS6 UFD1 TRIO IL1RAPL1 DNAJC6 YWHAG MBOAT7 SMC3 GALNT2 FGF12 GTF2IRD2 GP1BB METTL5 FMR1 DYRK1A ATRX MED12L TREM2 GNAQ CHD8 TMEM231 DOCK8 VPS37D NUS1 AP3B2 SZT2 DLG4 SCN1B AKT1 DYNC1H1 SNX14 NEMF KMT2E GTF2I HDAC8 CNTNAP2 ARNT2 POU3F3 INTS1 MEF2C MAPT MMP23B C9orf72 MCTP2 SARS1 SLC9A7 SPTBN1 GRM7 NPRL3 MFF FRMPD4 DLK1 UFSP2 NDST1 CDH15 TSC2 ARX GRIA4 PPM1D PRODH ACTL6B CSNK2B TBL2 ZMYND11 SHANK3 TRAPPC9 ZNF423 KLLN SYT1 MEIS2 NF1 GABRA2 OTUD5 CRBN BPTF DDX3X PTPN23 CASK TSC1 UBR7 VPS13C ALMS1 POMT1 FOXRED1 RAI1 HPDL SMARCC2 PUF60 DNAJC30 UBTF GRN CDH2 NDUFB9 ADH5 CHD7 SYN1 DMD AGO2 SETD1A CNNM2 RAD21 SEC24C TRIM8 RPS23 TMEM138 GPHN JMJD1C TLK2 WASF1 RAB39B IARS1 PGAP1 EGF NDUFAF2 GRIA2 GDI1 NOVA2 NDUFV2 BRSK2 LINS1 CAMK2B UPF3B GRIA3 PNKP PSMC3 PINK1 SOX2 DPAGT1 UBE3A HERC1 ST3GAL3 DHCR7 JAM2 UBE4B PARS2 MT-ND2 KIRREL3 NDUFAF5 CEP290 CNOT3 RAB11A CTNNB1 KANSL1 TCF20 PRKAR1A ARFGEF2 DCX TBC1D24 KAT8 NDUFS2 CLN5 MICOS13 KIF1A GNB5 GRIN2B SQSTM1 TBCK NDUFA1 SLC45A1 GFM2 GRIN1 ZNF462 NUBPL MED13L TBR1 TMLHE ZNF292 ARVCF CAPN15 CUX2 SRY NDUFA13 GATM RREB1 TM4SF20 REV3L TRMT1 TRAPPC4 CC2D1A CDK8 FBXW11 PHF21A SOX11 CAMK2A RORA MYT1L THOC2 CHRNA7 GTF2IRD1 C12orf4 TMEM237 NDUFS7 RARS1 PIGG PIGV KCNQ5 POLR2A ACOX1 MED25 RIMS2 POLA1 AGTR2 APC2 PODXL ZFPM2 PIGY DPF2 NECAP1 TECR GATAD2B NIPBL SEMA3E MAPK10 ATP6V1B2 NLGN4X PIK3CA IQSEC1 SMARCB1 LMAN2L WDR26 RPGRIP1L GNAO1 TBX2 HDAC4 SLC25A12 VAMP2 NFIB TOGARAM1 ALAD GAMT HTRA2 ALDH4A1 DCPS SMARCA2 STS YY1 AFF3 PUS3 NDUFA6 BCKDK NDUFB10 EFL1 TTC5 FBXO31 SMARCD1 PARK7 GLYCTK FLCN CYP27A1 POGZ PGAP3 EZR OPHN1 AFF2 PALS1 SOX4 PCDH19 BCOR PCGF2 CHAMP1 TCF12 KMT5B FMN2 LAT2 NDUFB11 KCNAB2 NDUFA11 ASXL3 ALKBH8 TNIK TSPAN7 KPTN ALG11 LIMK1 SKI PLA2G6 TRRAP KDM6B BAZ1B GABRB3 NR2F1 CACNA2D2 PIGC UGP2 HNF1B PIGO KCNT1 SEC23B KDM3B CASZ1 SPECC1L PRDM16 LHX1 TIMMDC1 SET NHS FKBP6 CLDN4 NPAP1 HTT MEG3 MLXIPL SPATA5 HCFC1 DALRD3 GFM1 TUSC3 NDUFB3 TMEM126B SNORD115-1 CC2D2A HP_INFLEXIBLE_ADHERENCE_TO_ROUTINES_OR_RITUALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFLEXIBLE_ADHERENCE_TO_ROUTINES_OR_RITUALS NLGN3 MECP2 SNRPN FOXP1 NLGN4X HP_STEREOTYPY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STEREOTYPY PSEN1 THOC2 LMNB1 HERC2 CHRNA4 CNTNAP2 SATB1 RAI1 DEAF1 NAGS NSUN2 C12orf4 SPEN GRIK2 SLC9A6 GABBR2 RPE65 KMT2A FLII AIMP1 NDP STXBP1 MAPT MMP23B C9orf72 KCNT1 GUCY2D FBXW11 CLTC NSD2 WASHC4 AP4S1 KCNQ5 PPP2R5D RTTN NBEA SARS1 SH2B1 TRIO HIVEP2 SPTBN1 KAT5 BRAF GRM7 KDM5B NAA10 UBE4A MED25 TKT KPTN NACC1 ZEB2 UFSP2 AP4E1 NDST1 NEXMIF RAC1 CDH15 DNAJC19 MECP2 OCRL MGAT2 ZC3H14 CDKL5 MBD5 NAA15 PRODH TECR MED23 SHMT2 ARID2 CHAMP1 CSNK2B ZMYND11 TRAPPC9 TUBB3 TRPM3 MADD EP300 MYT1L SYT1 VCP NTRK2 KYNU NLGN4X IQSEC1 CHRNA2 LMAN2L WDR26 CLIP1 HECW2 LARP7 FOXG1 CRBN HDAC4 METTL23 RERE PRKCZ TTI2 ZBTB20 PRSS12 TRAPPC6B SHANK3 TSC1 GABRB3 GABRG2 VAMP2 ST3GAL3 TSC2 CACNA1H SLC2A1 IQSEC2 DOCK7 GRN CABP4 EXT2 DCPS FGFRL1 LUZP1 SETD1B SMARCA2 TARDBP CHMP2B SLC6A8 CPLX1 KCNB1 AFF3 HUWE1 CUX1 CERT1 TANC2 KIF15 PUF60 DYRK1A B3GALNT2 NPC2 FOXP1 TTC5 FBXO31 FLCN RSRC1 BCORL1 TBR1 DLL1 UBE3A DDX6 POGZ FRRS1L EZR AFF2 ADNP RAB11B TBX1 SCN1A MAN1B1 BICRA CTBP1 ALKBH8 NTNG2 MEF2C PDE2A PGAP1 EDC3 CRH EHMT1 EPB41L1 OPHN1 GRIA2 NOVA2 LETM1 BRSK2 NLGN3 NTNG1 LINS1 FMN2 CAMK2B OCA2 TMEM106B KCNAB2 CIC CREBBP ASXL3 DPAGT1 CACNG2 TAOK1 UBE4B GRIN2A KIRREL3 DEPDC5 HNMT TNIK SOX5 SMC1A KIF5C KAT6A ASH1L SYNGAP1 RAB11A HNRNPH2 RAB39B SKI CHD3 AP4B1 EEF1A2 NR2F1 SLC12A2 NAT8L PIGC KIF1A HSPG2 TBCD SNRPN TBC1D23 GRIN2B EBF3 SQSTM1 CASZ1 MBOAT7 PRDM16 SLC45A1 AUTS2 SIK1 DPYSL5 GRIN1 SET SLC1A4 TCF4 EXTL3 FMR1 JRK MED12L AP4M1 TREM2 CDK19 DOCK8 NCDN ELP2 GABRA1 SPATA5 PPP3CA NARS1 TUSC3 CC2D1A DYNC1H1 CRADD GABRD PDPN DDC NEMF CHD1 CAMK2A CHRNB2 HP_DISINHIBITION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISINHIBITION PSEN1 FUS TOMM40 GAS1 CACNA1A VPS16 GRIN2A TGIF1 NSUN2 C12orf4 SPEN CHCHD10 TYROBP GRIK2 KANSL1 AIMP1 MAPT SQSTM1 C9orf72 NTRK1 SYNJ1 FBXW11 WASHC4 SARS1 CDK19 SPTBN1 SLC13A5 GRM7 UBE4A VCP EIF4G1 SHH STXBP1 SIX3 MED25 UFSP2 NDST1 KCNA2 GABRG2 TARDBP ZC3H14 PODXL GCSH CNKSR2 GBA NECAP1 TECR CLTC MED23 GLDC DLL1 COQ5 TRAPPC9 GABRB2 EP300 WDR62 GIGYF2 CELF2 NTRK2 IQSEC1 LMAN2L GABRA2 TRAK1 CLIP1 ABCA7 TREM2 HCN1 ATP1A2 CRBN USP7 METTL23 PRSS12 C19orf12 SLC1A2 TSC1 TDGF1 NODAL ST3GAL3 TSC2 MAGEL2 FMR1 VPS13C TBK1 PHIP GRN HTRA2 DCPS CHMP2B DNAJC13 ARV1 GABRA1 CDON IL1RAPL1 UBTF ATP1A3 FGF13 B3GALNT2 CDH2 TTC5 SRCAP FBXO31 PARK7 ATP6V1A VPS13A RSRC1 ACTL6B FGF8 FRRS1L UBA5 EZR AFF2 SNCA AP3B2 MAN1B1 DNM1 DNMT1 AMT SCN2A KCNB1 PCDH19 SCN1B MAOA EDC3 PGAP1 TMEM240 SCN1A RELN DEPDC5 LINS1 PTCHD1 HEPHL1 FMN2 ZIC2 GLI2 TMEM106B PTCH1 SORL1 APP GABRA5 CREBBP FTL NONO PINK1 CYFIP2 ALKBH8 PRKN FUZ CACNA1B PARS2 AARS1 HNMT TNIK SCN3A VANGL1 PLA2G6 LRRK2 UCHL1 EEF1A2 CEP152 DHDDS HIVEP2 DCTN1 SLC12A2 KDM5B FOXH1 PIGC SCN8A SUGCT WWOX DNAJC6 YWHAG MBOAT7 SLC45A1 SYNGAP1 FGF12 DPYSL5 PSEN2 SLC2A3 KNL1 VPS35 PANK2 ADAT3 SLC1A3 GRIN2D PPP3CA HTT NCDN SPAST NUS1 SCN9A LGI1 DALRD3 SZT2 TUSC3 CC2D1A CRADD DISP1 NEMF HP_IMPAIRED_SOCIAL_INTERACTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_SOCIAL_INTERACTIONS NDUFS4 NEUROD2 RAB11B IREB2 FMR1 CNTNAP2 AP2M1 SH2B1 GRIN1 NDUFAF4 GPHN ALG13 SPEN MEF2C GABBR2 NDUFS7 STXBP1 RARS1 NDUFAF2 COX10 NDUFV2 SLC25A1 NLGN3 NTNG1 ADSL SPTBN1 NDUFS1 ACOX1 NDUFB11 MFF CREBBP NDUFA11 CHD2 DLK1 PINK1 NEXMIF POLA1 PRKN HERC1 ST3GAL3 NLGN4X DEAF1 PODXL MT-ND2 SLC2A1 NDUFAF5 CDKL5 MED12 TWNK SMC1A SNCA FRMPD4 SLC6A1 TUBB3 RTL1 ALG11 NTRK2 EP300 ARFGEF2 NALCN SYT1 LRRK2 UCHL1 NF1 NDUFS2 NDUFAF8 CACNA2D2 FOXG1 MICOS13 SYNGAP1 UGP2 GRIA3 MT-ND3 NDUFAF3 SNRPN SLC25A12 TBC1D23 SHANK3 GNB5 NDUFS6 KCNT1 PIGP DNAJC6 SMG9 NLGN1 NDUFA1 MECP2 VPS13C GALNT2 NDUFC2 IQSEC2 ADNP PUF60 TIMMDC1 GFM2 DOCK7 HTRA2 FOXRED1 NUBPL EXTL3 SLC6A8 AGTPBP1 NDUFS3 UBA5 PUS3 NDUFA6 GABRA2 NDUFB10 CUX2 NDUFA13 NDUFV1 MEG3 MT-ND1 SPATA5 NDUFB9 AP3B2 CLP1 PARK7 GFM1 TET3 FLCN NDUFS8 NDUFAF1 NDUFB3 TBR1 TMEM126B SCN1A OPHN1 SYNJ1 HP_SHORT_ATTENTION_SPAN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_ATTENTION_SPAN SH3KBP1 KMT2E CCDC32 NF1 GTF2I HDAC8 SATB1 CACNA1A HERC2 GRIN2A PTCH1 MT-ND6 NSUN2 GALC GRIK2 CDKN2B AIMP1 NDP SRPX2 DDB1 TNRC6B NTRK1 SYNJ1 RERE SPG11 MCTP2 DLL1 NOP56 TDGF1 FGF8 WDFY3 WASHC4 SARS1 SH2B1 NBEA SLC9A7 CDK19 SPTBN1 KAT5 SLC13A5 GRM7 PIK3CA TGFBR2 UBE4A MT-TS2 MAN2B1 STXBP1 FRMPD4 MAP1B PMS2 SIX3 UFSP2 NDST1 PSAP CDKN1C PTCHD1 TSC2 SIN3A ASPM RSRC1 TSHB ARX GABRG2 GRIA4 MLH3 PPM1D CNKSR2 MSH2 CLTC FOXH1 CSGALNACT1 COQ5 ACTL6B SLC6A1 KCNMA1 TBL2 TRAPPC9 TUBB3 GABRB2 ARF1 NTRK2 NKX2-1 FBXO11 GABRA2 TRAK1 HUWE1 CRBN BPTF USP7 CARS1 GLI2 PLAG1 ZIC2 PTPN23 SLC1A2 SEMA4A TSC1 HSPG2 UBR7 SYP SUCLG1 NDN DLG3 CACNA1H VPS13C PAK3 ADNP PHIP MED12 AHCY DNAJC12 CABP4 SLC6A8 MED12L MED13 ZDHHC9 NCF1 KIF14 RAI1 HPDL TGIF1 SYNE1 DNAJC30 DPH1 BCORL1 B3GALNT2 CDH2 KDM4B SRCAP MT-TW BCR NEXMIF SNRPN ADH5 PSMD12 ATP6V1A CHD7 BCL7B DMD OCRL AGO2 SETD1A DISP1 SCN1A FRRS1L UBA5 DYNC1I2 ACSL4 ZNF711 RAD21 JARID2 SEC24C YWHAG TBX1 MID2 DNM1 ALKBH8 PPP1R21 SHH TUBB2B SCN2A COMT UBE3A ZMIZ1 JMJD1C PURA TLK2 DYRK1A WASF1 RAB39B PGAP1 DHTKD1 DMPK CDKN1B CRH SIN3B GDI1 SHOC2 ELN WBP11 RPS6KA3 LINS1 NODAL ALG13 EIF4H OCA2 STAG2 MECP2 HMGA2 PRKAR1B FMR1 USP27X CDON SVBP PINK1 CYFIP2 TANC2 AASS PRNP SETD2 MED27 PARS2 FGFR1 BRD4 AARS1 BUD23 SRP54 HNMT SCN3A CNOT3 KANSL1 HIRA SNORD116-1 TCF20 CLDN3 HNRNPH2 CIC HDC LRRK2 UCHL1 EEF1A2 IGF1 IQSEC2 KAT8 ODC1 SLC12A2 SLC7A6OS CREBBP PLA2G6 WWOX SMPD1 NLGN1 SLC45A1 PWRN1 AUTS2 UPF3B FAN1 SATB2 USP9X SETD5 MKRN3 DOCK3 MT-TF PWAR1 JRK CLCN4 WAC GRIN2D CDKN2C ZNF292 PPP3CA MT-TQ ARVCF CDKN1A NCDN ATP10A SCN9A FGD1 RREB1 TRMT1 FGFR3 EP300 CSNK2A1 TMEM270 HOXA2 TRAPPC4 CC2D1A CDK8 FBXW11 CRADD PAH PHF21A MADD CHRNB2 MYT1L CHRNA4 KIF11 BMPR1A GAS1 MT-TS1 PANK2 DRD5 MLH1 CHRNA7 PNKP GTF2IRD1 DEAF1 C12orf4 SPEN KRAS KMT2A NTNG1 TRIO FLII GATA4 KCNT1 ZNF41 ZNF81 MED25 TKT CHD2 KCNA2 POLA1 AGTR2 PRKCG APC2 MBD5 ZC3H14 PODXL SBDS VPS13A FTSJ1 NAA15 NECAP1 TECR MED23 SHMT2 ARID2 METTL27 NIPBL MAPK1 SEMA3E MT-TH AUH CELF2 IQSEC1 CHRNA2 LMAN2L CLIP1 PPP1R12A HS2ST1 HCN1 HDAC4 METTL23 PUS7 THRB PRSS12 TMCO1 GABRB3 MT-CO1 RPS20 ST3GAL3 SLC2A1 HTRA2 IFNG ALDH4A1 DCPS SLITRK1 SOBP SMARCA2 SIM1 RLIM STS YY1 IKBKG GNE ACTL6A DNAJC21 ARV1 RFC2 MAPK8IP3 SYNGAP1 GABRA1 TAF1 EFL1 FGF13 GALT CRKL FOXP1 TTC5 FBXO31 PARK7 GLUD1 TET3 MAGEL2 ATP13A2 CYP27A1 MT-ND4 EZR OPHN1 PALS1 ABCD1 AP3B2 MAN1B1 ARSA MT-TL1 AP2M1 SMC1A KCNB1 ARHGEF6 CLIP2 SCN1B TIMM8A ABHD11 EDC3 TRAPPC14 PCGF2 DRD4 SCN8A NSD1 IGF2 FMN2 MSH6 LHCGR MT-CO2 LAT2 NBN STX1A GABRA5 TRIP12 PRKN GLRX5 FANCD2 SPRED1 CACNA1B MT-ND1 MLXIPL DEPDC5 EPCAM TNIK SOX5 MT-ND5 TSPAN7 NKAP SNCA ANKRD17 LIMK1 SETBP1 PIGY BAZ1B DHDDS DPYSL5 STEEP1 NR2F1 MT-CO3 NAT8L KDM5B PIGC DDX6 UFD1 PMS1 LIG4 KDM3B IL1RAPL1 DNAJC6 MBOAT7 IDS SMC3 NTNG2 FGF12 DHCR7 FLI1 GTF2IRD2 GP1BB METTL5 PCDH19 FKBP6 GNAQ MEN1 CLDN4 PIEZO2 NPAP1 GNB5 ANAPC1 HTT VPS37D NUS1 HCFC1 DALRD3 PCNT SZT2 TUSC3 SPG7 NEMF TBL1X SNORD115-1 RIC1 HP_IRRITABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRRITABILITY WT1 PSEN1 DLL1 NUP133 NDUFS1 JPH3 BMPR1A HTT HBB HIBCH MLH1 UBAC2 MYO1E NUP37 PTCH1 SLC13A5 MT-ATP6 ZIC2 TYROBP GALC KRAS GNAS NDP TP53 MAPT MEFV C9orf72 PRF1 CCR1 KLRC4 TDGF1 FGF8 TK2 NFIX ASS1 NUP160 C4A AQP2 SPTBN1 IBA57 PTS ACOX1 PIK3CA TGFBR2 NSDHL FAS SDHB MECP2 DISP1 ANLN DARS1 PMS2 STX16 SIX3 NACC1 ARG1 ABCC8 IFIH1 SAMHD1 QDPR MLH3 FGFR1 VPS13A SLC16A2 GCSH COL4A3 NUP85 GAS1 MSH2 FOXH1 GLDC TH TLR4 PAX2 VCP PTPRO SLC46A1 GLI2 NODAL NHLRC2 STAG2 RNF13 FOXG1 SLC1A2 TREM2 ASL CARS1 OTC TTI2 CYP27B1 SLC19A3 ITPA MAGI2 FBP1 SEMA4A SDHAF1 HSPG2 AVP GAPVD1 CPS1 RPS20 SHH TBC1D8B RNASEH2B STAT4 IL12A-AS1 SMARCB1 PLPBP COG4 SLC25A19 DPYD PYGL CLP1 FDFT1 TGIF1 GCH1 NDUFAF4 SLC2A1 GRN ERAP1 TREX1 INF2 CLN8 EMP2 CDON ALDH7A1 ADAR ARHGDIA AVPR2 SLC39A4 PLCE1 CYP2R1 ENPP1 DNMT1 SLC25A20 AMT RNASEH2C SLC6A3 ASAH1 YIF1B SMC1A IL23R NAXD HLCS ACTN4 NPHS1 NUP93 AIFM1 SLC1A4 RNASEH2A APOL1 SLC25A1 CNP MSH6 GYS2 TMEM106B HLA-DQB1 CD2AP CRB2 NPHS2 SMPD1 VDR HLA-B TCN2 GRIA4 ST3GAL3 GLRX5 TSPOAP1 PRNP NUP107 CHMP2B EPCAM TRPC6 STUB1 PYCR2 DCX PPT1 PCBD1 NUP205 ABCC6 IL10 ST3GAL5 IL12A ALG9 PMS1 EHMT1 ATP5F1A SQSTM1 SLC25A13 CACNA1A PRRT2 SLC2A3 VPS53 FAN1 ASPA TMEM237 PANK2 FMR1 UBA5 SDHA ARHGAP24 ANKFY1 PHGDH SEPSECS COQ8B EXOC8 PSAP PAH DDC SUCLA2 ALPL SDHD HP_HALLUCINATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HALLUCINATIONS CPOX MAPT GBA FUS MTHFR JPH3 PSAP TOMM40 BMPR1A SYN2 NHLRC1 MLH1 ARSA HLA-DRB1 HTR2A ECM1 HCRT SNCAIP UPF3B ADGRV1 CHCHD10 EPM2A KRAS FBXO7 CYP27A1 ATXN8OS ESPN NDP MMACHC CDH23 ZNF365 PCDH15 RELN ADH1C DEPDC5 WFS1 MSH6 HLA-DQB1 HMBS USH2A SQSTM1 PIK3CA NPRL3 TGFBR2 SORL1 VCP EIF4G1 MAN2B1 APP CTSH DNAJC6 PUS3 PMS2 APOL4 PINK1 ATP13A2 CLN6 PRKN COMT CHI3L1 PRNP MYO7A DNM1L TARDBP BPTF CEP78 MLH3 PODXL SNCB EPCAM DCAF17 MSH2 SNCA OPA1 CISD2 BCS1L FIG4 HARS1 GIGYF2 LRRK2 UCHL1 PPT1 TTC19 DAOA ABCA7 TBP CLN5 BCKDHB MED12 NR4A2 APOL2 PRDM8 SON SEMA4A PMS1 USH1C ATXN2 CACNA1A SLC25A13 SPART RPS20 PDZD7 C9orf72 VPS13C DNAJC5 ALDH5A1 TBK1 PSEN2 BCKDHA SLC2A3 FAN1 ALAD GRN HTRA2 MOG ALDH4A1 VPS35 CLTRN GLUD2 ZDHHC9 DRD3 RTN4R DNAJC13 CIB2 TREM2 HTT PPOX LGI1 CDH2 PARK7 ARSG P2RY11 MT-TS2 NPRL2 PSMD12 SLC6A19 USH1G TNFSF4 PSEN1 DBT WHRN CLRN1 CEP85L SYNJ1 HP_SELF_MUTILATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SELF_MUTILATION THOC2 HERC2 CLTCL1 LARP7 INPP5E NTRK1 NAT8L SATB2 GRIA3 NDE1 DHCR7 CREBBP TMCO1 TRIO MGAT2 BCOR SLC6A17 VPS13A NAA10 MADD TMEM231 SLC6A8 EP300 OPHN1 GATAD2B RAI1 DPYD GRM7 ATG7 PAH SMG8 SLITRK1 AUH TREX1 HDC SYT1 ADSL HP_LOW_FRUSTRATION_TOLERANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_FRUSTRATION_TOLERANCE KMT2A MED12 DNAJC13 GBA EIF4G1 OPHN1 GATAD2B PUF60 KDM5C LRRK2 PPP2R5D GIGYF2 MAOA VPS35 SMARCA2 SNCA HP_DIMINISHED_MOTIVATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIMINISHED_MOTIVATION PSEN1 DLL1 FUS FOXH1 JPH3 DNMT1 SHH TDGF1 STAG2 CDON SMC1A FMR1 PTCH1 ZIC2 TMEM106B CHCHD10 GLI2 HEXA GAS1 DCTN1 TMEM240 EHMT1 MAPT SQSTM1 C9orf72 FGF8 NODAL HFE HLA-DQB1 PRKAR1B VCP EIF4G1 ATXN10 DISP1 SIX3 PINK1 PRKN PRNP TARDBP FGFR1 PODXL CHMP2B VPS13A TREM2 GM2A GBA GRN SNCA COQ2 GIGYF2 NOTCH3 LRRK2 UCHL1 HMGCL DCX ATXN1 DNAJC6 CACNA1A VPS13C TBK1 SLC2A3 ALAD HTRA2 SMARCB1 VPS35 TGIF1 PANK2 DNAJC13 HTT SPAST TREX1 PARK7 ACAT1 ATP13A2 CP PDGFB SYNJ1 SPG21 HP_DELUSIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELUSIONS CPOX DAOA PRNP GBA PRDM8 MTHFR JPH3 PSAP TBP SYN2 ARSA MAN2B1 HTR2A PPP2R2B ECM1 APOL2 TIMM8A SNCA SLC25A13 CYP27A1 DMPK ESS2 DGCR2 SLC2A3 PLA2G6 EIF2B4 HMBS HLA-DQB1 EIF2B2 DRD3 RTN4R EIF2B1 APOL4 TBX1 C9orf72 HTT PPOX COMT CHI3L1 VPS13A SNCB DGCR6 EIF2B5 EIF2B3 IMPA1 DGCR8 FMO3 HP_INAPPROPRIATE_LAUGHTER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INAPPROPRIATE_LAUGHTER HSD17B10 SNRPN GLI3 NTNG2 UBE3A KANSL1 TBC1D2B CDKL5 GATAD2B DYRK1A ATRX ATP10A PDE2A PGAP1 SLC6A17 SLC9A6 GABBR2 MBD5 PSEN1 STXBP1 FOXG1 PIGS NOVA2 MAPT NTNG1 MECP2 OCA2 ADSL SMC1A HP_PAROXYSMAL_BURSTS_OF_LAUGHTER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAROXYSMAL_BURSTS_OF_LAUGHTER HSD17B10 SNRPN MBD5 ATRX GLI3 FOXG1 NTNG2 UBE3A HP_PERSONALITY_CHANGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERSONALITY_CHANGES PSEN1 PRNP MAPT MT-TS1 TYROBP MT-CO3 TREM2 MT-TL1 NR4A2 ATP7B MT-ND6 SNCAIP TIMM8A RNF216 MT-CO1 SQSTM1 ATXN2 ATXN8OS DCTN1 MMACHC C9orf72 ADH1C PLA2G6 GRN EIF2B4 MT-TF MT-CO2 CHMP2B TMEM106B GLUD2 HLA-DQB1 EIF2B2 PNPLA6 TBP MT-TS2 MT-TQ TIA1 EIF2B1 JPH3 HTT MT-ND1 MT-TW EIF2B5 VPS13A MT-ND5 TBK1 VCP EIF2B3 MT-TH MT-ND4 LMNB1 GBA APOE HP_HYPERACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERACTIVITY ATR SH3KBP1 KMT2E CCDC32 FMR1 NF1 GTF2I HDAC8 CNTNAP2 SATB2 NTRK1 ANK3 CACNA1A HERC2 PUS7 GATAD2B GRIN2A PTCH1 NSUN2 GALC GRIK2 KANSL1 AIMP1 NDP SLC6A8 DDB1 TNRC6B ASH1L DNAJC21 SYNJ1 RERE MCTP2 DLL1 NOP56 TDGF1 FGF8 WDFY3 WASHC4 SARS1 SH2B1 NBEA SLC9A7 CDK19 DPP6 SPTBN1 KAT5 SLC13A5 GRM7 PIK3CA TGFBR2 UBE4A FRMPD4 MAP1B PMS2 SIX3 UFSP2 NDST1 NEXMIF CDKN1C PTCHD1 TSC2 SIN3A ASPM ZSWIM6 RSRC1 TSHB ARX GABRG2 GRIA4 MLH3 PPM1D CNKSR2 DDX3X PRODH MSH2 CLTC FOXH1 KCNA1 CSGALNACT1 ACTL6B SLC6A1 PIGP KCNMA1 TBL2 SHANK3 TRAPPC9 GABRB2 EP300 ARF1 NTRK2 NKX2-1 SNRPN FBXO11 GABRA2 TRAK1 HUWE1 CRBN BPTF USP7 CARS1 GLI2 CDKL5 PLAG1 ZIC2 NSDHL MANBA PTPN23 CASK SLC1A2 SEMA4A SMARCC2 TSC1 HSPG2 UBR7 SYP NDN DLG3 CACNA1H PAK3 ALDH5A1 ADNP PHIP MED12 DNAJC12 CABP4 SIK1 MED12L MED13 ZDHHC9 CORO1A NCF1 KIF14 RAI1 HPDL TGIF1 KIF15 DNM1 DNAJC30 DYRK1A IL1RAPL1 UBTF DPH1 BCORL1 B3GALNT2 CDH2 KDM4B SRCAP HDAC4 BCR ADH5 PSMD12 ATP6V1A GNS CHD7 BCL7B DMD OCRL CHD2 AGO2 DISP1 SCN1A FRRS1L UBA5 DYNC1I2 ACSL4 SHROOM4 ZNF711 RAD21 JARID2 SEC24C YWHAG TBX1 MID2 DMXL2 ARID2 PDE4D ALKBH8 PPP1R21 NTNG2 SHH TUBB2B COMT UBE3A TRIM8 ZMIZ1 ATRX JMJD1C TLK2 WASF1 RAB39B BSCL2 PGAP1 DHTKD1 CRH GDI1 SHOC2 ELN ARID1B WBP11 KDM5C RPS6KA3 LINS1 NODAL ALG13 EIF4H OCA2 SPR STAG2 PNKP MECP2 HMGA2 USP27X CDON SVBP CYFIP2 TANC2 AASS PPP2R1A DHCR7 SETD2 MED27 PARS2 FGFR1 RUSC2 BRD4 AARS1 BUD23 HNMT SCN3A CNOT3 HIRA SNORD116-1 TCF20 CLDN3 HNRNPH2 PRKAR1A CIC HDC CREBBP EEF1A2 IGF1 IQSEC2 KAT8 ODC1 CLN5 HIVEP2 SLC12A2 STXBP1 SLC7A6OS NBN PLA2G6 WWOX SLC25A13 YME1L1 SMPD1 NLGN1 SLC45A1 PWRN1 AUTS2 UPF3B PUF60 FAN1 USP9X SETD5 MKRN3 DOCK3 PWAR1 ADAT3 JRK CLCN4 WAC GRIN2D BCAP31 ZNF292 PPP3CA ARVCF KCNK9 ATP1A1 TSHR TAF6 NCDN ATP10A AFF2 FGD1 RREB1 TRMT1 FGFR3 CSNK2A1 GABRB3 TMEM270 HOXA2 TRAPPC4 CC2D1A CDK8 SATB1 FBXW11 CRADD PAH PHF21A PNP SOX11 MADD CHRNB2 CUX2 MYT1L CHRNA4 KIF11 BMPR1A HTT PANK2 DRD5 MLH1 CHRNA7 GTF2IRD1 EBP DEAF1 APC2 C12orf4 SPEN KRAS KMT2A NTNG1 TRIO DYM FLII GATA4 CAMTA1 KCNT1 TNIK ZNF41 TRIP12 PIGQ NFIX HGSNAT ADSL INPP5E ZNF81 MED25 TKT SCN1B ARG1 KCNA2 POLA1 AGTR2 PRKCG ZC3H14 NAGLU VPS13A GCSH FTSJ1 MBD5 GAS1 NAA15 DPF2 NECAP1 TECR MED23 SHMT2 GLDC METTL27 NIPBL MAPK1 SEMA3E MAPK10 WDR62 CELF2 CUL4B IQSEC1 SMARCB1 CHRNA2 LMAN2L CLIP1 GNAO1 PPP1R12A ACY1 HS2ST1 HCN1 METTL23 TTI2 CUL3 THRB PRSS12 TMCO1 RPS20 ST3GAL3 SLC2A1 GAMT IFNG DCPS SLITRK1 MED13L SMARCA2 SIM1 RLIM STS YY1 IKBKG GNE ACTL6A ARV1 RFC2 MAPK8IP3 SYNGAP1 TAF1 LNPK FGF13 GALT CRKL FOXP1 TTC5 FBXO31 SMARCD1 GLUD1 TET3 FLCN MAGEL2 CYP27A1 POGZ SLC25A22 EZR OPHN1 ARID1A PALS1 ABCD1 AP3B2 MAN1B1 SOX4 AMT AP2M1 SMC1A KCNB1 ARHGEF6 CLIP2 PCDH19 TIMM8A SCN2A ABHD11 EDC3 TRAPPC14 PCGF2 SLC1A4 DRD4 SCN8A NSD1 NEUROD2 SMARCE1 IGF2 FMN2 MSH6 LHCGR CCBE1 LAT2 STX1A GABRA5 FANCD2 UQCC2 SPRED1 CACNA1B SMARCA4 MLXIPL DEPDC5 EPCAM SOX5 TSPAN7 NKAP ANKRD17 LIMK1 KDM6B SETBP1 PIGY BAZ1B MTOR DHDDS DPYSL5 STEEP1 NR2F1 KDM5B PIGC ALG14 DDX6 UFD1 PMS1 LIG4 KDM3B MBOAT7 SMC3 FGF12 PRNP SGSH FLI1 GTF2IRD2 GP1BB METTL5 FKBP6 GNAQ HAL CLDN4 PIEZO2 SRPX2 NPAP1 GNB5 ANAPC1 VPS37D NUS1 GABRA1 HCFC1 DALRD3 PCNT DPYD SZT2 TUSC3 SPG7 NEMF TBL1X SNORD115-1 RIC1 HP_LACK_OF_INSIGHT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACK_OF_INSIGHT TMEM106B PSEN1 CHMP2B TBP MAPT C9orf72 TYROBP TREM2 VCP GRN SQSTM1 HP_IMPAIRED_USE_OF_NONVERBAL_BEHAVIORS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_USE_OF_NONVERBAL_BEHAVIORS NLGN3 MECP2 SNRPN NLGN4X MFF HP_ABNORMAL_PERIPHERAL_NERVOUS_SYSTEM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PERIPHERAL_NERVOUS_SYSTEM_MORPHOLOGY SDHD SLC25A15 NF1 NTRK1 DCTN1 SELENON MAFA SLC18A3 MT-ND6 TGFB1 EGR2 NEFL CDKN2B SDHC MUSK CCT5 HARS1 PMP22 TK2 SH3TC2 MPZ ERCC8 VPS41 SLC25A19 ANKH BRAF SPG11 FGF14 PRPS1 TPM3 HINT1 VCP MT-TS2 ITGB4 IFRD1 YARS1 CHRNE MT-ND1 CEP126 SPTLC2 PIK3CA MYO9A POLG2 LMOD3 MT-ND4 EYA1 PLXND1 MYH7 CHRNA1 DOK7 PHOX2B SLC25A46 MT-ND2 CLCF1 NGLY1 ARHGEF10 KIF1B SYP ALDH18A1 KBTBD13 DLG3 ADA2 POLG PEX3 DMPK CHRND RET TWNK SYNE1 LRP4 AFG3L2 NOD2 PLEKHG5 MAT1A MAX LRP1 TFG WARS1 HSPB1 ELOVL4 TMEM106B MYO1H CDKN1B RRM2B MT-TW FBN1 SORD SLC25A1 MTM1 RFC1 TBK1 PRRX1 GDAP1 GJB1 GCDH LMNB1 CHCHD10 ACSL4 ZNF711 CNKSR2 KLHL41 MDH2 AIFM1 SPEG COL13A1 MID2 BICRA NEFH NEB SNAP29 PEX10 PIGB MT-ND5 MYH14 PLA2G6 GNE DNM2 FKRP YY1 AARS1 CHAT SACS GCK RPS6KA3 ANO5 SIX1 TCIRG1 GALC HRAS SRPX2 USP27X KIF1A LYST MYPN CNTNAP1 WDR48 MT-TK GMPPB CA2 TPM2 PDX1 IDUA ATXN10 PLEKHM1 DHX16 VRK1 PSAP CPLANE1 MED12 SMN1 MLH1 KIT COL6A1 PTDSS1 SPTBN4 SLC12A6 BDNF ACADS TBCD LARGE1 LAMA2 CLCN7 ADPRS PLEKHG4 AMER1 C9orf72 TXN2 GFPT1 PEX12 USP9X FLNC MT-TF HK1 SOD1 CLCN4 GLE1 FH DES CDKN2C ATP13A2 BSCL2 GBE1 TUBB3 CDKN1A GBA2 KLHL40 ABCC8 TRIM2 GNAQ LAMB2 ATL1 LRP5 SLC29A3 TRPV4 SUCLA2 APC ADCY6 FUS MEOX1 FLVCR1 MT-TE MEN1 VHL MME DNAJB6 ZNF41 SLC25A4 GAN AKT1 ZNF81 FBXO38 HOXB1 BAP1 SDHB SERPING1 TPRKB LRPPRC TMEM127 ACTA1 TNFSF11 HPDL TARDBP FTSJ1 PAK3 MYF6 NDRG1 CYP2U1 ALS2 NALCN PRX LMNA TTC19 CHKB ZC4H2 ERCC3 TPI1 C19orf12 ATRX DCAF8 MT-CO1 IGHMBP2 BMS1 PLOD1 IBA57 HSPB8 COL4A1 PLEC TFAP2A GDNF COL6A3 B2M TRAF7 MTMR14 SQSTM1 CHRNB1 REEP1 TTN AAAS NDUFAF4 SLC25A11 MTRFR NOTCH2NLC XK ATP1A2 PEX13 OSMR UBQLN2 NEMF FAM126A TREM2 MARS1 VPS13D MT-TL1 ARHGEF6 MT-ATP6 DGUOK COG8 ABCD1 NF2 GJC2 MMACHC SNAP25 UQCRC1 DARS2 ADGRG1 MT-CO2 FKTN MATR3 CTDP1 KY MFN2 BTNL2 MOCS2 DLL4 KCNJ11 DNMT3A ARSA STAT3 ASXL1 KIF1C PDCD10 ERCC6 JPH1 SURF1 MICU1 SBF1 STEEP1 COA7 MT-CO3 OTX2 ATAD3A PEX6 KLC2 ATXN1 IL1RAPL1 PI4KA EXT1 BIN1 GDF3 SNX10 VWA1 NAGA SOST PMP2 POMT1 SDHA CTSD RETREG1 KRIT1 RYR1 ERCC4 KCNJ10 KARS1 TRIP4 TBCE ATL3 ATXN3 OPA1 MPV17 ZNHIT3 SGCD CFL2 MED25 LITAF KIF5A PDK3 GJA1 TTR MAPT TNFRSF11A NGF SLC9A7 HMBS SPTBN1 COX6A1 MFF FRMPD4 ZFYVE26 SCN4A PTCHD1 CAPN3 SUMF1 ARX MEGF10 EDN3 CACNA1A PDGFB ABCA1 TSC1 GARS1 TSC2 PNKP CCM2 EXT2 HLA-DRB1 PABPN1 PUF60 ELOVL5 GSN MORC2 SYT2 PEX2 CAPN1 TYMP NARS2 FBLN5 CHD7 PNPT1 DMD WFS1 SIGMAR1 SEPTIN9 LTBP3 PEX5 LRSAM1 COLQ DNMT1 PRICKLE1 UBTF RAB39B COX20 DYNC1H1 SAMD9L FGD4 POMT2 GDI1 PLP1 ASCC1 ALG13 MECP2 RAB7A TRPM7 COL6A2 PRNP LZTR1 RAPSN UBA1 TBL1XR1 TUBB6 SMCHD1 SMO SCN9A COQ7 HNRNPA1 DPAGT1 IQSEC2 TRAPPC11 MYMK COCH SCO2 CRYAB XRCC4 YME1L1 ASCL1 UPF3B GFM2 PSEN1 SETX EPAS1 ACOX1 SLC52A2 PEX16 SIX5 TBC1D20 MT-TQ BAG3 TDP1 GNB4 KCNK9 ADSS1 NFASC SPTLC1 SMN2 SDHAF2 SPG21 REV3L AGRN SLC5A7 PRRT2 PRKAR1A PRPH RNF43 MT-TS1 MTMR2 ASAH1 DKK1 DHH MT-ND3 PEX26 AGTR2 SMARCB1 SLC39A14 VPS13A GRN INF2 PNPLA6 SHMT2 MCM3AP CRPPA SEMA3E PIEZO2 MGME1 MT-TH SCN1A SLC25A21 FRG1 SPG7 KLHL9 SOX10 SBF2 DLST FXN APTX PEX14 MOCS1 SLC19A3 SUFU SALL4 CYP27A1 ALG2 FIG4 RAI1 AMPD2 PEX19 AK9 ALG14 TYROBP FGF3 COASY GDF6 ELP1 DAXX PEX1 FLRT1 DEGS1 TRIM32 SPRED1 WNK1 SMARCE1 PLD3 TSPAN7 HNRNPA2B1 PEX11B ABHD12 HSD17B4 TERT SLC52A3 MTTP FA2H VAMP1 INS CCND1 PTRH2 DNA2 HACE1 NEU1 ALG12 KRAS ATP7A CRLF1 GCGR COL12A1 DDHD1 HCFC1 MT-TV CHMP2B GMPPA LRP12 HP_SENSORY_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SENSORY_NEUROPATHY AIFM1 OPA1 RAI1 DNMT1 PRTN3 MT-TS1 IARS2 MT-TL1 TK2 HLA-DPA1 PRICKLE1 TRPV4 RNF170 PRPS1 MT-ND6 HADHA DKK1 MT-ATP6 TIMM8A DGUOK DHH MFN2 COX20 POLG NF2 CCT5 GJC2 TTPA MT-CO2 FGF14 DST RAB7A IBA57 HINT1 MT-TS2 PLP1 DNASE1L3 MT-ND1 HADHB PLD3 TWNK ALS2 MT-ND5 FXN SPTLC2 SHMT2 DHX16 TGFB1 HNRNPA2B1 PIEZO2 NEFH MT-TH COMP PEX1 HNRNPA1 SLC12A6 GAN MORC2 MT-CO3 LYST KLC2 GJB1 NAGA MT-CO1 TOP3A XRCC4 PLEKHG4 PEX6 CACNA1A PNPT1 ATXN8OS ALAD ARL6IP1 MT-TF PTPN22 HK1 ACOX1 TFG HLA-DPB1 ATP13A2 MT-TQ TDP1 CRAT CTSD SYNE1 VCP SPG11 GSN SPTLC1 AR ERLIN2 CTDP1 MT-TW CAPN1 TNXB ATL1 VPS13A CTLA4 MT-ND4 ATL3 CLCN6 HP_PERIPHERAL_AXONAL_DEGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_AXONAL_DEGENERATION KLC2 OPA1 MPV17 MT-TS1 FLVCR1 KIF5A MT-ND6 TTR NEFL MFN2 MT-TE CCT5 HARS1 MME SPG11 SH3TC2 ERCC8 SLC25A19 HMBS TBCE TXN2 VCP BRAF FGF14 HINT1 MT-TS2 GDAP1 SERPING1 MTRFR ZFYVE26 IFRD1 ATAD3A YARS1 SPTLC2 POLG2 VPS13A KCNJ10 INF2 PNPLA6 SHMT2 MCM3AP MYF6 POLG LAMA2 PIEZO2 CYP2U1 MT-TH TTC19 SLC25A46 NGLY1 MPZ ABCA1 GAN MORC2 KIF1B SLC25A21 SPG7 DARS2 DCAF8 ALDH18A1 KLHL9 MT-CO1 IGHMBP2 PLOD1 IBA57 VPS41 TWNK HSPB8 SYNE1 ATL3 AFG3L2 SETX TFG WARS1 FXN APTX HSPB1 ELOVL4 AAAS ELOVL5 MOCS1 TRPV4 RRM2B MT-TW CAPN1 TYMP SLC25A4 RFC1 FBLN5 XK UBQLN2 MTMR14 WFS1 CYP27A1 MT-ND4 SEPTIN9 NEMF FIG4 LRSAM1 MARS1 PEX10 AMPD2 VPS13D NDRG1 TYROBP MT-TL1 PIGB TK2 PRICKLE1 AIFM1 COASY GBA2 MT-ATP6 UBTF DGUOK COG8 BIN1 ABCD1 DNM2 RETREG1 COX20 DYNC1H1 DMPK GJC2 AARS1 GCK ASCC1 MT-CO2 MICU1 RAB7A CTDP1 KIF1A MOCS2 ATP13A2 FLRT1 WDR48 KCNJ11 MT-ND1 PDX1 PLD3 STAT3 MT-ND5 DHX16 HNRNPA2B1 NEFH PLA2G6 JPH1 GJB1 HNRNPA1 SPTBN4 SLC12A6 C19orf12 SURF1 TRAPPC11 COA7 MT-CO3 PSAP ERCC6 RYR1 ATL1 TBCD ADPRS XRCC4 PLEKHG4 INS VWA1 LMNA NAGA MT-TF HK1 ACOX1 GLE1 KRAS MT-TQ BAG3 TDP1 CTSD GBE1 GNB4 KCNK9 TUBB3 SPTLC1 DDHD1 ABCC8 TRIM2 KARS1 TRIP4 GMPPA ATXN3 HP_ABNORMAL_THORAX_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THORAX_MORPHOLOGY MME ATR ATP7A DYNC2LI1 A2ML1 TRPS1 COL1A1 CCDC32 KIAA0586 NF1 TENT5A CCDC47 SELENON SUFU FLI1 SLC18A3 TPM3 TRPV4 HPGD TRIP11 B3GALT6 BMPER MAP2K2 HNRNPK DDRGK1 SLC9A6 WDR19 KANSL1 GORAB H19 OBSL1 WDFY3 SMAD4 COL1A2 PAX7 ARSL RPS6KA3 BRAF GATA1 CBL MSTO1 SPEN TNFRSF11B MAP2K1 SMAD3 XYLT2 ZEB2 RBM8A FLNB CTSK DES SIN3A SOS2 MYO9A COG4 LMOD3 CSGALNACT1 NXN KCNMA1 TUBB3 SOS1 RPS27 ALDH18A1 VCP DOK7 DYNC2H1 CRTAP TNPO3 CHST14 MYLK MIR140 SDHC NGLY1 AKT1 HACD1 CREB3L1 HUWE1 PIGN FIG4 COL11A1 NRAS CTBP1 NOTCH3 CHRNE PRKCZ CYP27B1 TMTC3 DYNC2I2 MATN3 FAT4 TDGF1 SIK3 KBTBD13 RSPRY1 PDHX VAC14 ROR2 MEG3 GPC3 CDT1 MED12 ARSB ERCC2 MTOR PQBP1 DYNC2I1 LMNA RPS29 MESP2 RPS10 ZDHHC9 NCF1 POP1 TCTN3 GUSB PDGFRB PIK3C2A GATA6 RRAS2 FAM149B1 SETBP1 DNMT3A AEBP1 CFAP410 GNS SLC25A1 FHL1 PPIB KCNJ2 CD96 TNFRSF11A FLNA BCL7B PTEN RPS24 PTCH1 KLHL41 JARID2 SPEG COL13A1 SLC2A1 BICRA NEB PPP1R21 B3GAT3 SGCB COMT TK2 RAB3GAP2 DONSON COL5A1 MAPRE2 ZMIZ1 DVL1 GNE SLC2A10 CEP152 COG1 MPLKIP WDR35 PRNP PGAP2 FUCA1 GDF11 IL1RN WDR81 ORC4 GSC CHAT ANTXR1 CHRND SHOC2 GBA ELN KIF22 NADSYN1 EYA1 ANO5 GLI1 ACAN EIF4H FN1 HRAS MMP13 NEFL NKX3-2 SRPX2 PTPN22 NEK1 JAG1 SVBP RRAS VPS37A CDH11 TOR1A SLC34A3 FUZ TANC2 MYPN PPP2R1A DLK1 CHRNA1 COL11A2 DNM1L MED27 TBX5 TPM2 IDUA BRD4 TARS1 BUD23 MTX2 ALX4 ARFGEF2 RUNX2 KAT6A SDHD VANGL1 ATG7 FBN1 MSX2 OPA1 HHAT HIRA PSMB8 DACT1 PPP1CB CLDN3 HNRNPH2 NPR2 PTPN2 TBX1 PTDSS1 ODC1 IGF1R FGFR2 FOXH1 PIEZO2 BAP1 SIM1 HSPG2 TBCD SLC26A2 KIF7 TBX15 LAMA2 FERMT1 ZMPSTE24 AMER1 DDR2 ADAMTS10 NAA10 VDR ERMARD FKBP10 DOCK3 EXTL3 GLI3 P3H1 CANT1 GDF3 PLOD2 SEC24D CENPJ SOX2 COL2A1 KLHL40 VPS13B NEK9 PAX3 LAMB2 LRP5 TMEM270 GLE1 SATB1 G6PC3 PDPN KYNU RAF1 LFNG CHRM3 CEP120 RPS28 SALL4 GPC4 GAS1 RIT1 BMP2 MEOX1 PIGL TRAPPC2 POLR3A RIPPLY2 POR RPL18 PEX1 RTL1 SC5D KMT2A IFT80 CHRNG SBDS SERPINH1 ITCH IDS MYL2 IFT43 FGD1 TELO2 ABL1 SIX3 ATP6V0A2 TBCE CHST3 NELFA GNPTG PRKACA ACTA1 TNFSF11 RNF135 CYP2R1 TRIP4 MGAT2 PTH1R SMO PIEZO1 EZH2 RNF113A DLL1 ARID2 METTL27 TGFBR1 MYF6 MAPK1 CBS MBTPS2 ARID1B SEC23A CLCN7 COMP COL10A1 MAP3K7 NALCN ERLIN1 MFAP5 SH3TC2 CUL4B MUSK FARSB PAX1 HS2ST1 ACP5 PPP1R15B ZC4H2 CDC6 SPRTN SOX10 UBE3B ZBTB20 PUS7 C19orf12 SON LOX SLC10A7 PLOD1 FGFR1 NFIX PIGS ERCC3 ABCC6 MYF5 SPECC1L PPP3CA SH3PXD2B CDC42 LUZP1 TGDS RLIM WNT1 RTTN IKBKG SYNE2 RPS26 ACTL6A DCHS1 HOXD13 DNAJC21 SQSTM1 LRP4 RFC2 MAPK8IP3 WNT5A TNNT1 TTN PIGW ANK1 TAF1 EBP PIGQ IFT122 ALG12 USF3 SNRPB ORC6 INPPL1 IFT140 MAP1B PIGG CD247 TGFB3 FBLN5 SOST ABCA3 TMEM251 TGFBR2 ENPP1 PRKACB COL12A1 ITGA3 CLIP2 SMARCAL1 EVC CSPP1 RMRP ABHD11 POLG SCUBE3 SNAP25 MEGF8 MYH3 PIGT NSD1 LETM1 GLI2 SEPTIN9 ADGRG1 MYH7 CCBE1 COL3A1 NUP107 STX1A TTC21B KY TRIP12 MRAS CCDC8 NEPRO RPS19 PCYT1A SFTPB HES7 MTRFR GZF1 CHRNB1 SOX5 BGN NKAP ALPL PYCR2 SIX6 MMP14 FGFR3 RPL11 XYLT1 SMAD2 SDHB ABCC9 DPYSL5 ATAD3A RIN2 PRKG1 GNPTAB IFT172 PACS1 LTBP2 DDX6 VPS33A DNM2 UFD1 TRIO MED13 RNU4ATAC PI4KA KDELR2 MAF EXT1 RIPK4 FBN2 BIN1 SMC3 LZTR1 MAT2A IFT57 VWA1 SP7 TAPT1 SMC1A SGSH GTF2IRD2 TBX6 GP1BB RBBP8 STAT4 SKI SGCA GFPT1 DYRK1A CHD4 HDAC6 VPS37D MECP2 MAP3K20 NARS1 RET CHST11 EFEMP2 KCTD1 FAM111A SF3B4 WNT7A LHX3 KMT2E FMR1 GTF2I SLC35D1 HDAC8 BUB1B SGCD GNB2 CFL2 KCNJ8 ADA2 KRAS INTS1 TRPV6 MMP23B CAPN3 RSPO2 MET C2CD3 OTUD6B SH2B1 GPX4 SOX9 TGFB2 RAB33B FAM20C ARF1 CTNS BANF1 GALNS MAN2B1 PYCR1 GDF6 SCN4A KIAA0753 EFNB1 GRIA4 MGP SLC16A2 AIFM1 CRPPA ACTL6B FREM2 SFRP4 TBL2 MEGF10 HEY2 KLLN DYSF ERF EMD BPTF IGBP1 RERE SLC12A2 PYROXD1 PTPN23 SMS TUBB MAN1B1 RPS20 UBR7 GMPPB PORCN WNT4 ALMS1 EXT2 REST FGFRL1 CPLX1 MED12L LBR AR CASR HPDL ASXL1 RPL26 PUF60 DNAJC30 GMNN UBTF MYLPF PROKR2 SALL1 SYT2 BCORL1 NEDD4L CDH2 KDM4B SRCAP PSMD12 COL5A2 ZFPM2 FGF8 CHD7 ADA OCRL GTF2H5 AGO2 PTPN11 MTMR14 EVC2 IFT52 RAD21 ITGA7 DYM SEC24C LMX1B COLQ SIL1 RPL27 ARL3 JMJD1C ORC1 MYH11 WASF1 WBP11 KDM5C EIF2AK3 NOTCH2 NIPBL CUL7 NSDHL UPF3B ZBTB16 NSUN2 HERC1 RPL15 ACTA2 SETD2 UBE4B RAPSN RYR1 SRP54 CCDC22 SGCG CNOT3 SMCHD1 SCARF2 TCF20 MYOD1 PTCH2 LGI4 TBC1D24 DPAGT1 MOGS MYSM1 KAT8 PIGU PHF8 TBX3 CREBBP CCN6 PLAA GTF2E2 TBCK GPKOW RPL31 B4GALT7 RBM10 COL6A3 POMT2 PEX5 ARVCF PAM16 SFTPC AGA NFASC B3GLCT SRY RREB1 INPP5K P4HB FZD2 TRMT1 EP300 WASHC5 TRAPPC4 AGRN COL6A2 RPS17 MAMLD1 SLC5A7 FBXW11 DISP1 MMP2 CILK1 MADD NSD2 GAD1 MYT1L RPS15A BCOR GTF2IRD1 TGIF1 FOXE3 MYBPC1 NTNG1 GATA4 RPL35 FOXF1 PIGV TRMT10A ACTB RPL35A EXOC6B HGSNAT GLB1 POLR2A DHODH FBXL3 ANKRD11 SHH BICD2 FKTN SNX14 TSR2 TMEM43 APC2 NAGLU PIGY SNX10 WNT3 TMCO1 SEMA3E RECQL4 GJA1 ATP6V1B2 IRF6 PIK3CA IRX5 TBX2 DLL3 FRG1 TWIST1 ANKRD55 IHH ALDH3A2 RPL5 PLCB3 NODAL PCNT PLEKHM1 MARS2 ADAMTS3 INTU DSE CYP21A2 POGLUT1 AFF3 ACTG2 HBA2 APC CDON DYNLT2B PHEX EFL1 HINT1 PTF1A MED25 CYP27A1 ALG2 PGAP3 LEMD2 PALS1 ADAMTSL2 IGF2 AK9 LIFR ALG14 WRN MTM1 PCGF2 SLC17A5 DLG3 GNB1 SYNE1 IL2RB TMEM231 IL2RA ZIC2 BMP1 ELMO2 LAT2 KCNAB2 SPRED1 MLXIPL RPS7 LIMK1 CDC45 KDM6B UBA1 FRAS1 KIF1B BAZ1B MYH2 HSD17B4 MESD PIGO DVL3 LIG4 SEC23B CASZ1 NOG HYOU1 VAMP1 PRDM16 NTNG2 HBA1 DHCR7 NEU1 OFD1 BMPR1A TCIRG1 FKBP6 SRD5A3 CLDN4 RASA2 MBTPS1 HTT IARS2 TNRC6B ASAH1 KCNQ1OT1 GABRD IFT81 PIK3R2 TONSL COL6A1 HP_ABNORMAL_STERNUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_STERNUM_MORPHOLOGY MME ATP7A DYNC2LI1 A2ML1 TRPS1 FMR1 NF1 RTL1 GTF2I HDAC8 B3GALT6 BUB1B CFL2 CCDC47 KRAS FBN1 SUFU COL12A1 SLC18A3 TPM3 HPGD TRIP11 INTS1 HNRNPK SLC9A6 WDR19 KANSL1 GORAB RAF1 MET COL1A2 RPS6KA3 TGFB2 BRAF RAB33B FAM20C CTNS CBL MSTO1 GALNS MAN2B1 TNFRSF11B DACT1 MAP2K1 SMAD3 PYCR1 ZEB2 FGFR3 SOS2 FLNB EFNB1 MYO9A MGAT2 COG4 SLC16A2 AIFM1 CSGALNACT1 NXN TBL2 GPC4 SOS1 MEGF10 ALDH18A1 HEY2 MAP2K2 CRTAP KLLN CHST14 MYLK ERF SDHC HACD1 FIG4 NRAS OBSL1 GUSB NOTCH3 EMD IGBP1 SLC12A2 CYP27B1 PYROXD1 SMS PTEN TUBB MAN1B1 HSPG2 MATN3 SIK3 NFIX DVL1 RSPRY1 PDHX PPP1CB VAC14 ROR2 MEG3 GPC3 MED12 ARSB COL13A1 REST PQBP1 FGFRL1 DYNC2I1 COL2A1 CPLX1 LBR TPM2 LOX ZDHHC9 NCF1 HUWE1 TBX6 ASXL1 TCTN3 PUF60 COL3A1 DNAJC30 DYRK1A UBTF TELO2 PIK3C2A GATA6 PROKR2 PPP2R1A SYT2 RRAS2 FAM149B1 AEBP1 ZFPM2 SLC25A1 PPIB CD96 TNFRSF11A FLNA BCL7B PTPN11 PTCH1 EVC2 RAD21 ITGA7 SMAD4 DYM CYP2R1 LMX1B BICRA PPP1R21 B3GAT3 SIL1 RAB3GAP2 COL5A1 ARL3 MAPRE2 SLC2A10 ORC1 KIF7 MYH11 PGAP2 GDF11 CHAT SHOC2 GBA ELN WBP11 LMNA KDM5C NOTCH2 NIPBL KLHL41 CUL7 EIF4H FN1 UPF3B RIN2 HRAS SRPX2 NSUN2 NEK1 ZBTB20 RRAS VPS37A CDH11 SLC34A3 IFT52 MYPN ACTA2 SETD2 TBX5 MYH3 BRD4 BUD23 KAT6A SDHD SETBP1 ATG7 EVC DLK1 SCARF2 PIEZO2 CLDN3 HNRNPH2 SOX5 MYOD1 PTCH2 IGF1R PIGU TBCD TBX3 CREBBP PLAA TBCK NEB DDR2 TGFBR2 B4GALT7 RBM10 SKI PLOD2 SEC24D AGA B3GLCT SRY FGD1 VPS13B NAA10 INPP5K FZD2 LZTR1 EP300 TMEM270 SLC5A7 G6PC3 HS2ST1 CHRM3 CEP120 TENT5A ZMIZ1 RIT1 BMP2 PIGL GTF2IRD1 FOXE3 KMT2A IFT80 TRIP4 CHRNG INPPL1 NSD2 PIGV TRMT10A ACTB GLB1 POLR2A FKBP10 ITCH MYL2 DHODH TGFB3 EXTL3 ABL1 ATP6V0A2 CHST3 GNPTG WNT5A FKTN SNX14 TMEM43 APC2 COL11A2 ATAD3A IFT43 RNF135 PIGY PIEZO1 ARID2 METTL27 TGFBR1 CBS ARID1B XYLT1 LMOD3 NALCN MFAP5 PIK3CA TRPV4 FARSB CDC42 IRX5 ACTA1 ACP5 PPP1R15B SPRTN SOX10 IHH MAF AMER1 PLOD1 PIGS MYF5 SPECC1L PLEKHM1 SOX9 MARS2 SH3PXD2B TGDS DSE DYNC2I2 SYNE2 IFT122 RFC2 TNNT1 PIGW HBA2 TAF1 PHEX PIGQ PTF1A USF3 ORC6 ABCC6 MED25 IFT140 PGAP3 FBLN5 ADAMTSL2 KDELR2 CTBP1 CLIP2 RMRP BCOR ABHD11 PCGF2 WDR35 SNAP25 MEGF8 PIGT NSD1 LETM1 GNB1 SYNE1 TMEM231 BMP1 ELMO2 ADGRG1 CCBE1 LAT2 MBTPS2 NUP107 STX1A VDR TTC21B AGRN MRAS NEPRO SPRED1 MLXIPL GZF1 BGN NKAP ALPL LIMK1 PYCR2 KDM6B MTX2 FRAS1 BAZ1B HSD17B4 SMAD2 SDHB PRKG1 IFT172 PACS1 PIGO LTBP2 DYNC2H1 VPS33A DVL3 TRIO LIG4 SEC23B PI4KA NOG FBN2 HYOU1 VAMP1 SMC3 FHL1 MAT2A HBA1 SELENON AKT1 EXOC6B SP7 NEU1 SMC1A GTF2IRD2 FKBP6 CLDN4 RASA2 MBTPS1 VPS37D MECP2 MAP3K20 NARS1 ASAH1 RET CHST11 EFEMP2 MAP3K7 WNT7A HP_PECTUS_EXCAVATUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PECTUS_EXCAVATUM ATP7A TENT5A A2ML1 ZMIZ1 FMR1 NF1 GPC4 RTL1 GTF2I HDAC8 B3GALT6 CDH11 RIT1 CFL2 CCDC47 BMP2 KRAS PIGL FBN1 COL12A1 GTF2IRD1 TPM3 PTEN HPGD INTS1 HNRNPK RAF1 ROR2 SLC9A6 KMT2A KANSL1 TRIP4 CHRNG INPPL1 MET COL1A2 PIEZO2 PIGV TRMT10A ACTB RPS6KA3 POLR2A ITCH LMX1B MYL2 BRAF DHODH FAM20C CBL EXTL3 FGD1 MSTO1 MAN2B1 ABL1 ATP6V0A2 MAP2K1 ZEB2 PTPN11 WNT5A FGFR3 SOS2 FKTN FLNB TMEM43 EFNB1 APC2 MGAT2 COL11A2 COG4 RRAS2 IFT43 SLC16A2 PIGY PIEZO1 CSGALNACT1 NXN ARID2 METTL27 TGFBR1 NIPBL TBL2 CBS SOS1 MEGF10 ALDH18A1 XYLT1 LMOD3 MAP2K2 CRTAP KLLN CHST14 MFAP5 PIK3CA ERF SDHC FARSB HACD1 IRX5 NRAS ACTA1 NOTCH3 PPP1R15B EMD SPRTN IGBP1 SOX10 IHH ZBTB20 PYROXD1 MYPN SMS MAF TUBB HSPG2 MATN3 SIK3 AMER1 NFIX DVL1 PLOD1 PDHX PPP1CB MYF5 SPECC1L MEG3 GPC3 SH3PXD2B PQBP1 RBM10 COL2A1 TGDS WDR19 COL5A1 TPM2 LOX ZDHHC9 SYNE2 IFT122 NCF1 HUWE1 RFC2 ASXL1 PIGW TCTN3 PUF60 COL3A1 DNAJC30 DYRK1A TAF1 TELO2 PIGQ PROKR2 PPP2R1A AEBP1 PPIB USF3 CD96 FLNA BCL7B PGAP3 TGFB3 RAD21 FBLN5 ITGA7 ADAMTSL2 KDELR2 BICRA TBX5 RAB3GAP2 SHOC2 MAPRE2 SLC2A10 CLIP2 UPF3B KIF7 BCOR ABHD11 PTCH1 PCGF2 PGAP2 GDF11 WDR35 MEGF8 PIGT NSD1 GBA ELN GNB1 SYNE1 WBP11 LMNA TMEM231 KDM5C KLHL41 CUL7 EIF4H ADGRG1 CCBE1 LAT2 MBTPS2 NUP107 STX1A SRPX2 MRAS NSUN2 NEPRO RRAS IFT52 SETD2 MYH3 MLXIPL CHRM3 BRD4 MED12 BUD23 KAT6A NKAP SDHD ATG7 DLK1 SCARF2 LIMK1 CLDN3 KDM6B MYOD1 MTX2 BAZ1B HSD17B4 SDHB IGF1R PIGU PACS1 PIGO TBCD LTBP2 DVL3 CREBBP TRIO LIG4 SEC23B VPS33A TBCK PI4KA NEB NOG DDR2 SMC3 LZTR1 TGFBR2 FHL1 SELENON AKT1 SMC1A GTF2IRD2 SKI SMAD3 FKBP6 SEC24D CLDN4 RASA2 VPS37D B3GLCT SRY MECP2 VPS13B MAP3K20 NARS1 NAA10 FZD2 EP300 RET CHST11 EFEMP2 TMEM270 MAP3K7 HS2ST1 HP_PECTUS_CARINATUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PECTUS_CARINATUM MME COL13A1 ATP7A TENT5A A2ML1 TRPS1 PTPN11 KDELR2 B3GALT6 PPP1R21 B3GAT3 SIL1 IHH RIT1 FBN1 RAB3GAP2 SLC18A3 ARL3 DVL1 TRIP11 SLC2A10 KRAS ORC1 RMRP RAF1 PCGF2 DYM GORAB SNAP25 CHAT MEGF8 ACTB NOTCH2 BMP1 RPS6KA3 GLB1 FKBP10 FN1 UPF3B MAN2B1 BRAF RAB33B HRAS MBTPS2 MYH3 CBL TNFRSF11B TELO2 MAP2K1 SMAD3 AGRN CHST3 NEK1 KANSL1 GNPTG ZDHHC9 PYCR1 ZEB2 RRAS VPS37A WNT5A SOS2 SNX14 FLNB MYO9A COL11A2 COG4 ATAD3A RNF135 GZF1 COL2A1 SOX5 BGN NKAP NXN TGFBR1 CBS EVC SOS1 XYLT1 HNRNPH2 PYCR2 NALCN MFAP5 TRPV4 NRAS OBSL1 GUSB ACP5 SLC12A2 TBCD BMP2 TBX3 VPS33A DVL3 KIF7 SMS MAN1B1 HSPG2 PLAA MRAS FBN2 HYOU1 VAMP1 LZTR1 TGFBR2 PIGS HBA1 PPP1CB B4GALT7 PLEKHM1 ROR2 EXOC6B SP7 NEU1 MARS2 SKI TGDS TBX6 TNNT1 PLOD2 HBA2 PIEZO2 RASA2 AGA MBTPS1 UBTF SYT2 RRAS2 FAM149B1 PTF1A INPP5K FZD2 SLC25A1 PPIB TNFRSF11A NF1 SLC5A7 G6PC3 MED25 EVC2 WNT7A TGFB3 CHRM3 HP_ABNORMALITY_OF_THE_BREAST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_BREAST GNRH1 A2ML1 RAD51D HDAC8 PALB2 DUSP6 CCDC47 SH3PXD2B TP53 PRLR SEMA3A LMNA DPM1 AMMECR1 RTL1 HNRNPK MAN1B1 CDKN2B KANSL1 KISS1 SOX3 GPR101 AKT1 ANOS1 TNRC6B NTHL1 RSPO2 CDH1 NR5A1 PPP2R5D FAS SMCHD1 SPTBN1 RAD51 HFE CBL RAB18 BRCA1 TP63 INSR AIP SOS2 WDR37 WASF1 FREM2 CDK4 EFNB1 NIN MDH2 WDR11 FGF8 MECP2 RBM28 MSH6 NUP188 PLXND1 BARD1 CASP8 GPC4 SOS1 PTEN DMRT3 MRE11 KLLN NF1 CCDC141 SLC25A46 SDHC GRIP1 TACR3 PIGN FIG4 NRAS CTBP1 SLC35A2 DOLK CHEK2 SMS TUBB CYP17A1 COLEC10 CDH23 ARCN1 TERF2IP MADD PPP1CB RELA MITF VAC14 ALMS1 MEG3 GPC3 ADNP CDT1 PALLD ERCC2 MSH2 TWIST2 WWOX PROK2 SOX6 MC1R AR FGF17 KIAA0586 CERT1 FOXA2 PHF6 KIF15 BRIP1 CDKN2A GMNN CDH2 RRAS2 RFT1 ACD HESX1 DHODH MDM2 UBE2A NSMF GTF2H5 POC1A PSMC3IP RAD21 MLH1 TBL1XR1 FSHR PIK3CA PTPN11 BICRA RERE CYP11A1 CTNNB1 BRCA2 ALG11 RAB3GAP2 INTU MAPRE2 AXIN2 COG1 SRA1 ORC1 RNF216 MPLKIP POLD1 PGAP2 CDKN1B GDF11 ORC4 CPLX1 UBR1 PPM1D AKT2 TRAF7 ANTXR1 PHB SLC29A3 RSPO1 ZFPM2 NIPBL SPRY4 PACS1 FLRT3 PROP1 IDH1 ZBTB20 RRAS SMARCA2 CDH11 STK11 ATR DPAGT1 AFF4 MGMT PRKN PORCN ESR1 FGFR1 KCTD1 BRD4 TARS1 CCDC22 HMMR KAT6A SDHD SETBP1 MEFV PIK3CD CPE PSMB8 TFAP2B ATN1 PMM2 ABCD4 LHX4 IGF1R RAD54L LHB TBX3 IKBKG GTF2E2 NBN SOX9 TCF4 SMAD4 POU1F1 KDM1A ERMARD USP9X MAB21L1 KATNB1 ZC4H2 SPIDR ZFTA HSD17B3 CPT2 ARHGEF2 PNPLA6 HPGD CDKN2C KIFBP CHRNG LETM1 EDARADD MAP3K1 NR0B1 CDKN1A B3GLCT SRY FEZF1 NECTIN1 REV3L LZTR1 WASHC5 KRAS TAC3 APC CILK1 HS2ST1 NSD2 GATA4 SMPD4 RNF43 ARHGAP31 RIT1 HS6ST1 NQO2 PIGL SLCO2A1 POLR3A KNSTRN SLC25A24 RAF1 SLC6A17 ATM NUP107 PIGV PTPRF ACTB NFIX LEP CYP11B1 ALG14 LEPR PROKR2 IBA57 ACOX1 NELFA FSHB XRCC3 MGAT2 PIGY CHD7 MASP1 WT1 WNT3 KISS1R EED EZH2 RNF113A AXL TCF20 VAMP7 SOX10 CYP19A1 OPCML BAP1 HDAC4 MEN1 CDC6 POT1 TMCO1 COLEC11 AMER1 CYB5A ERCC3 GNAS TOGARAM1 TFAP2A EDA CYP21A2 NONO YY1 GNE PRKAR1A MRPS22 RAD51C TERT PIGW HSD3B2 ALG9 FMR1 ALG3 GNRHR ALG12 USF3 WAC ORC6 ZEB2 SEC23B DDX6 PIGG PGAP3 COG7 ERBB2 SEMA3E WRN RB1CC1 ITGA3 RASGRP1 COX7B ALG8 POLR3H AAGAB IL17RD CKAP2L MEGF8 PIGT KDM6A CASP10 RABL3 DCC COL14A1 COQ8A ASXL3 BNC1 PEX3 LAS1L EXOC2 ASXL1 FGFR2 FRAS1 CDC45 TRRAP KDM6B SDHB NDNF GNPTAB PIGO GLI2 EBF3 MRAS MAF OTX2 RIPK4 SMC3 DHCR7 CSPP1 SMC1A OFD1 BMP15 RAD50 POLE PRKCD DYRK1A ERCC6 RASA2 BLM CHST3 FASLG DHX37 SLC22A18 IDH2 TWIST1 DLK1 WNT7A CUL4B BRAF HP_GYNECOMASTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GYNECOMASTIA GNRH1 FGFR1 GATA4 CYP11A1 DUSP6 WDR11 HS6ST1 SH3PXD2B SLCO2A1 SEMA3A SEMA3E POLR3A PTEN ITGA3 SRA1 RBM28 RNF216 KISS1 ANOS1 AR AKT2 IL17RD GNRHR SLC29A3 NR5A1 LEP CYP11B1 RSPO1 DCC ZFPM2 LEPR SMCHD1 PROKR2 SPRY4 SPTBN1 HFE COQ8A FLRT3 ZBTB20 AFF4 AIP FGF8 KISS1R FGF17 HSD17B3 MECP2 LAS1L CHD7 WT1 SDHD SRY AXL VAMP7 SOX10 DMRT3 CYP17A1 CPE PSMB8 CYP19A1 NSMF KLLN PIK3CA CCDC141 SDHC TACR3 SDHB LHB NDNF ALMS1 MEN1 SEC23B CDH23 CYB5A SOX9 ERMARD AKT1 PHF6 WWOX STK11 CYP21A2 PROK2 PNPLA6 HPGD MAP3K1 NR0B1 DHX37 FEZF1 HSD3B2 FMR1 HESX1 USF3 HDAC8 TAC3 CUL4B HP_ABNORMALITY_OF_THE_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_RIBS ATR DYNC2LI1 RTL1 KIAA0586 SLC35D1 TENT5A LFNG KCNJ8 FBN1 SUFU TRPV4 BMPER WDR19 TRPV6 HOXD13 TNFRSF11A MMP23B RSPO2 OBSL1 C2CD3 SMAD4 ARSL SH2B1 GPX4 SOX9 CTNS BANF1 SPEN GALNS MAN2B1 GDF6 RBM8A HES7 LMOD3 MGP PTH1R AIFM1 NXN GPC4 DYNC2H1 CRTAP LRP5 CREB3L1 FIG4 COL11A1 CTBP1 COG1 RERE PRKCZ CYP27B1 HSPG2 DYNC2I2 TDGF1 PORCN VAC14 ROR2 MEG3 GPC3 CDT1 ARSB EXT2 FGFRL1 DYNC2I1 MESP2 CPLX1 LBR TBX6 ATP7A TRIP11 PUF60 GMNN SALL1 SRCAP SETBP1 DNMT3A CFAP410 GNS PPIB SLC26A2 FGF8 CHD7 FLNA ADA OCRL PTPN11 MTMR14 PTCH1 EVC2 KLHL41 CYP2R1 LMX1B SOX2 B3GAT3 DONSON CEP152 ORC1 WDR35 GDF11 IL1RN ORC4 RUNX2 NIPBL CUL7 NSDHL ZBTB16 MMP13 GLI3 NKX3-2 NEK1 JAG1 TOR1A SLC34A3 FUZ DLK1 COL11A2 TBX5 FGFR3 UBE4B MYH3 IDUA CCDC22 COL2A1 VANGL1 PLOD1 EVC SCARF2 DACT1 DNAJC21 DDRGK1 PTCH2 TBC1D24 ODC1 COL1A2 FOXH1 TTC21B IKBKG TBCK FERMT1 DDR2 ADAMTS10 CEP120 ERMARD SKI P3H1 CHRNA1 CHRNG LETM1 PAM16 SEC24D CENPJ NFASC FLNB KLHL40 NEK9 P4HB WASHC5 GLE1 MAMLD1 PDPN DISP1 NSD2 GAS1 BMP2 MEOX1 POLR3A RIPPLY2 POR TGIF1 INPPL1 KMT2A DYM IFT80 SBDS SERPINH1 FOXF1 ACTB EXOC6B HGSNAT GLB1 IDS ANKRD11 SHH SIX3 TBCE CHST3 NELFA COL1A1 TNFSF11 NAGLU RRAS2 GATA6 SNX10 WNT3 SMO EZH2 TMCO1 DLL1 MYF6 MBTPS2 SEMA3E RECQL4 CLCN7 COMP COL10A1 MAP3K7 ATP6V1B2 IRF6 MUSK DLL3 CDC6 IHH SON PLCB3 AMER1 NODAL MYF5 PPP3CA ZMPSTE24 LUZP1 CHRND INTU HDAC6 WNT1 NEB RTTN IFT122 AFF3 DNM2 ANK1 APC CDON PHEX ALG12 SNRPB ORC6 IFT140 LRP4 IFT43 PIGG SOST KDELR2 SRP54 LIFR FGFR2 BIN1 RMRP MTM1 SCUBE3 ZIC2 GLI2 XYLT1 KCNAB2 VDR IFT172 GNPTAB CCDC8 B3GALT6 PCYT1A CHRM3 ACTA1 BGN ALPL MATN3 SIX6 CDC45 UBA1 MTX2 SF3B4 ABCC9 RYR1 RNU4ATAC MAF EXT1 CASZ1 NOG PRDM16 GDF3 IFT57 DHCR7 CSPP1 TAPT1 SGSH FLI1 RPS19 TCIRG1 LMNA PTDSS1 PAX3 FAM111A GABRD IFT81 WNT7A HP_SHORT_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_RIBS PTCH2 SF3B4 FGFR3 LMX1B KIAA0586 GPX4 SLC35D1 FIG4 COL11A1 TTC21B SUFU IHH INPPL1 ORC1 RTL1 PORCN PLCB3 WDR35 TRPV6 DDR2 VAC14 MYF5 MEG3 DYNC2LI1 CEP120 DYNC2I1 C2CD3 PTH1R CSPP1 TAPT1 CUL7 NSDHL INTU HSPG2 LBR IFT122 NKX3-2 IFT172 DYNC2H1 GNPTAB NEK1 IFT80 TRIP11 PAM16 COL2A1 COL11A2 SLC26A2 TRPV4 DYNC2I2 IFT140 SMO RUNX2 ALG12 EZH2 SETBP1 FLNA ORC6 EVC DLK1 IFT81 PTCH1 IFT43 ALPL EVC2 DDRGK1 UBA1 HP_ABNORMALITY_OF_THE_DIAPHRAGM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_DIAPHRAGM ZFPM2 WNT4 NSD2 SHH GPC4 KIAA0586 HDAC8 RPS28 B3GAT3 SIX3 STRA6 LFNG KCNA1 RIPPLY2 GATA6 PCNA GNE VANGL2 HCCS FGFR1 SLC2A10 GLI3 MAMLD1 STIL HOXD13 GATA4 CPLX1 GLI2 ALG9 EFNB1 MCTP2 ASNS SH2B1 NIPBL KMT2D ZIC2 STAG2 MESP2 RARB PBX1 SEC31A ABL1 DACT1 CHST3 NELFA RLIM NDUFB11 SIN3A DNAJC19 HES7 COX7B PORCN LMOD3 FLNA BRD4 ACTA1 SMC1A ARID2 ARID1B RPS26 HYLS1 WT1 TRRAP MYOD1 RSPO2 NDUFAF5 TRAIP PIGN DLL3 LRP2 CTBP1 DIS3L2 HDAC4 ADGRG6 KDM3B IGHMBP2 MAF SMC3 ZNF699 DISP1 DHCR7 GPC3 FGF8 WNT3 ADAT3 NEB KDM6A CHRNG LETM1 MTHFR KLHL40 KIF7 PLOD3 AR MTM1 EFEMP2 CHUK CD96 MN1 TRIP4 POGZ PIGG NR2F2 RAD21 KLHL41 FBLN5 HP_CONGENITAL_DIAPHRAGMATIC_HERNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_DIAPHRAGMATIC_HERNIA ZFPM2 WNT4 NSD2 SHH GPC4 KIAA0586 HDAC8 RPS28 B3GAT3 SIX3 STRA6 LFNG KCNA1 RIPPLY2 GATA6 PCNA VANGL2 HCCS FGFR1 SLC2A10 GLI3 MAMLD1 STIL HOXD13 GATA4 CPLX1 GLI2 ALG9 EFNB1 MCTP2 SH2B1 NIPBL KMT2D ZIC2 STAG2 MESP2 RARB PBX1 SEC31A ABL1 DACT1 CHST3 NELFA RLIM NDUFB11 SIN3A HES7 COX7B PORCN FLNA BRD4 SMC1A ARID1B RPS26 WT1 TRRAP RSPO2 NDUFAF5 TRAIP PIGN DLL3 LRP2 CTBP1 DIS3L2 HDAC4 KDM3B MAF SMC3 DISP1 DHCR7 GPC3 FGF8 ADAT3 KDM6A CHRNG LETM1 MTHFR KIF7 AR EFEMP2 CHUK CD96 MN1 POGZ PIGG NR2F2 RAD21 FBLN5 HP_ABNORMALITY_OF_THE_THYMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_THYMUS FRAS1 TBX1 SEC24C SKIV2L AKT1 RORC RAG1 NKX2-6 POLR1D PTEN COMT ATM SEMA3E VANGL2 WIPF1 JMJD1C EPG5 DCLRE1C UFD1 WAS IL2RG CDKN2B PEX5 CDKN1B MCM10 AK2 TFAP2A GP1BB ALG14 ANTXR2 TTC7A POLR1C TCOF1 CDKN2C ARVCF PLXND1 TP63 MEN1 CDKN1A MTHFR TTC37 POLR1B NEK9 RAG2 NSMCE3 RREB1 ERCC8 HIRA ADA G6PC3 CHD7 HP_ABNORMAL_SCAPULA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SCAPULA_MORPHOLOGY RPS28 TRPS1 RPS15A SLC35D1 SGCD EYA1 ADA2 MEOX1 SUFU RPL18 INPPL1 RTL1 MYBPC1 DYM TBX3 CAPN3 RAF1 RPL35 OBSL1 RPL35A GPX4 SOX9 VCP GATA1 GDF6 ACTA1 BICD2 LMNA TSR2 TMEM43 EFNB1 TTN PAX3 TMCO1 CSGALNACT1 CRPPA RPS27 FHL1 COL11A1 TNPO3 DYSF SH3TC2 RSPO2 PAX1 ACTB TBX2 FIG4 TBX15 FRG1 MAP3K7 PYROXD1 C19orf12 BRAF TK2 RPS20 HSPG2 GMPPB RPL5 KBTBD13 PCNT TPM2 FGFR1 VAC14 MEG3 BIN1 EXT2 POGLUT1 RPS29 LBR RPS10 WDR35 SYNE2 RPS26 SQSTM1 RPL26 COL12A1 TRIP11 COL3A1 CDH2 KCNJ2 KLHL41 PTPN11 RPS24 PTCH1 ALG2 TGFB3 SPEG TMEM251 LMX1B NEB COLQ RPL27 ALG14 SGCB ATP6V0A2 GNE ORC1 FLNA POLG COL2A1 GDF11 GSC SYNE1 WBP11 ANO5 RUNX2 CUL7 NSDHL SEPTIN9 MYH7 NEFL RPL11 CCDC8 RPL15 MYPN RPS19 DNM1L TBX5 FGFR3 RYR1 RPS7 SGCG SMCHD1 OPA1 SCARF2 TPM3 PSMB8 NPR2 PTCH2 LGI4 DPAGT1 MYH2 GNPTAB EXT1 RIPK4 RPL31 GDF3 VWA1 COL6A3 SGCA GFPT1 POMT2 FBN1 SOST POR FLNB COL11A2 LAMB2 COL6A2 RPS17 TRPV4 DLK1 SF3B4 EMD COL6A1 HP_PRIMARY_AMENORRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMARY_AMENORRHEA GNRH1 PPARG SIM1 GATA4 HDAC8 DUSP6 HS6ST1 HERC2 SEMA3A DHH TRMT10A KISS1 NUP107 ANOS1 NR5A1 LEP ROBO1 LEPR PROKR2 CISD2 MRPS22 MSTO1 SNRPN FSHB GPR161 SYCE1 POF1B NIN WDR11 FGF8 CHD7 EIF2B5 WT1 KISS1R SRY NIPBL PSMC3IP AXL VAMP7 SOX10 DMRT3 FIGLA CCDC141 CAV1 TACR3 CYP19A1 LARS2 TP63 MAGEL2 FGF17 NDN CYP17A1 WNT4 POLG CYB5A HESX1 TWNK PROK2 WWOX GATA3 EIF2B2 OCA2 PEX6 DHX37 SOHLH1 FSHR LHX4 CLPP GALT ITGA8 FEZF1 GNRHR STAG3 AR RAD21 FGFR1 BMP15 SEMA3E SRA1 ERAL1 MCM8 HSD17B4 POLR3H IL17RD DCC ZFPM2 SPRY4 CTDP1 FLRT3 EIF2B1 SMCHD1 BNC1 ESR1 MCM9 BRD4 SNORD116-1 CPE NSMF PEX1 GDF9 NOBOX NDNF SOX9 PWRN1 SMC3 YARS1 SMC1A EIF2B4 SPIDR ESR2 MKRN3 PWAR1 BMPR1B POR MAP3K1 NR0B1 NPAP1 PCSK1 CDON TAC3 EIF2B3 SNORD115-1 HP_NEPHROLITHIASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEPHROLITHIASIS GCM2 SLC3A1 CTH TENT5A KDELR2 GTF2I ENG HGD PREPL SLC7A9 SI ATP7B GTF2IRD1 ADCY10 ATP6V1B1 CLCN5 CLIP2 MYL9 HOGA1 ABHD11 PKD1 AGXT PLG CDKN2B PRPS1 CDKN1B CLDN19 HNF1B CLDN16 ELN SERPINH1 OPLAH KCNH1 KRT17 CYP24A1 KCNQ1OT1 EIF4H CAMKMT CASR LAT2 HPRT1 MBTPS2 STX1A CTNS CREBBP BTNL2 CDKN1C SLC22A12 MOCS2 SLC34A3 SLC37A4 BUD23 DNAJB11 SLC1A1 SLC2A9 METTL27 GANAB TBL2 BSCL2 ACVRL1 LIMK1 EP300 PLCD1 CLDN3 CLDN2 ADAMTSL1 GNA11 MGME1 BAZ1B USP8 APRT CDC73 AIP PKD2 BICC1 SLC34A2 PAX2 KCNQ1 PPM1B HSPG2 XDH MOCOS SLC6A19 VDR SLC34A1 AP2S1 GTF2IRD2 ALG9 CLDN10 DSE SMAD4 HLA-DRB1 CACNA1D NCF1 GRHPR CDKN2C RFC2 ARMC5 NOD2 SLC26A1 FKBP6 AGPAT2 MEN1 CLDN4 CDKN1A DNAJC30 IGF2 VPS37D MOCS1 CHST14 MLXIPL GDF2 SLC36A2 SETBP1 SLC9A3R1 FBN1 G6PC1 CDH23 TMEM270 ANTXR1 BCL7B OCRL SLC6A20 GNAS SLC5A1 HP_INFERTILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFERTILITY RSPH3 CATSPER2 SIM1 GATA4 ARMC2 FOXL2 CFAP58 DUSP6 CFAP221 DNAH1 ODAD2 HERC2 XRCC2 DNAAF1 DHH BTG4 RSPH1 SOX3 DNAH9 PLCZ1 NR5A1 FANCA DAZ2 DAZ3 HFE CCNO SOHLH1 CATSPER1 DNAJB13 CTNS MAP2K1 GNRH1 SNRPN PTPN11 PPP2R3C STRC TLE6 DRC1 TSGA10 CCDC40 HSD17B3 DNAAF3 H6PD WT1 ODAD1 CFTR SRY AXL VAMP7 DMRT3 DNAH10 SPEF2 FIGLA PMFBP1 CCDC141 DNAH8 PADI6 TUBB8 CCDC39 RNF216 ADGRG2 MAGEL2 TSPY1 ZP2 WEE2 NDN MEIOB CDH23 CFAP43 ZP1 CFAP298 DNAH11 PRLR FCGR2A DNAH17 USP9Y WWOX CFAP300 TEX14 DNAAF11 NANOS1 GAS8 OCA2 AR FOXA2 SUN5 TGFB1 BRAF USP8 FSIP2 GALT FEZF1 CDC14A C14orf39 DZIP1 NME8 GNRHR DNAH5 ODAD4 RPGR HYDIN QRICH2 TTC29 PROP1 PLIN1 CFAP44 HLA-DQB1 MEI1 WDR11 SPAG17 NR3C1 SEMA3E RSPH4A DDX3Y GBA2 DNAAF2 CFAP70 SLC26A8 SRA1 MCIDAS ZFPM2 DNAI2 DNAAF4 LHCGR TTC12 GCM2 SYCP2 SEPTIN12 DAZ1 HESX1 CCDC65 SPATA16 DNAAF6 FOXJ1 SPAG1 FGF17 TRIP13 ZMYND10 RBMY1A1 DNAI1 AK7 CYP19A1 NEK10 CEP19 SNORD116-1 DNAL1 CLDN2 TEX11 GAS2L2 LHX4 FSHB SPRY4 C11orf80 GLI2 MNS1 KLHL10 DNAH2 ODAD3 OTX2 CFAP251 PGR PATL2 RSPH9 SOX9 PWRN1 AMH POU1F1 CFAP65 CATIP CCDC103 HSF2BP STUB1 MKRN3 PWAR1 CFAP47 CYP17A1 M1AP HJV HLA-DQA1 ACTL9 MAP3K1 DNAAF5 NR0B1 NPAP1 BLM DHX37 ZP3 OFD1 DAZ4 PANX1 AURKC AMHR2 REC114 LRRC56 SNORD115-1 CEP112 STK36 BRDT HP_URIC_ACID_NEPHROLITHIASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URIC_ACID_NEPHROLITHIASIS SLC22A12 PRPS1 HPRT1 APRT SLC2A9 HP_MEMBRANOPROLIFERATIVE_GLOMERULONEPHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEMBRANOPROLIFERATIVE_GLOMERULONEPHRITIS C1QA LMNB2 C1QC PGM3 C1QB CFHR2 SOX18 C3 CFHR3 HP_ABNORMALITY_OF_THE_URETHRA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_URETHRA WNT4 ATR HOXA13 PEX6 GTF2I HDAC8 BUB1B COLEC10 LFNG ADA2 HNF1B FANCB TERT MAMLD1 HOXD13 LAMB3 ITGA6 MMP23B RAF1 RERE MCTP2 OBSL1 NR5A1 C2CD3 SMAD4 MED25 SPTBN1 KAT5 NHP2 GATA1 TCTN1 SPEN PEX3 MAP2K1 TP63 ZEB2 PEX10 CDKN1C CHRNA3 SIN3A PEX12 KIAA0753 FREM2 EFNB1 COX7B LMOD3 POLE B9D2 TBL2 GPC4 RPS27 DMRT3 RFWD3 GATA4 DYNC2H1 EP300 ERCC4 KRAS NKX2-1 TMEM70 OTUD5 GRIP1 PIGN FIG4 TUBB CTBP1 CARS1 PRKCZ PEX16 PLAG1 GLI3 SMS BRAF RPS20 PARN SUCLG1 FAT4 SSR4 ARCN1 DKC1 NDUFA8 PAX6 VAC14 ZNF699 MAP3K1 GPC3 ATPAF2 CDT1 PLD1 LRIG2 MED12 RPGRIP1L LAMC2 PQBP1 FGFRL1 WWOX RPS29 CPLX1 MED12L ITGB4 TMEM67 MNX1 RPS10 NCF1 AR HUWE1 KIAA0586 TINF2 DHX37 B9D1 FDFT1 ATRX RPL26 HCCS SMARCC2 PUF60 COL3A1 HPSE2 SLC25A10 DNAJC30 GMNN FLNA MAB21L2 KIF7 SALL1 PEX19 SRCAP SETBP1 DNAJC19 DACT1 UBE2A BCL7B POLA1 PTPN11 TXNDC15 RPS24 EVC2 RAD21 KLHL41 USP9X SEC24C TBX1 BICRA ARID2 SPECC1L SOX2 PDE4D NEB CYP11A1 RPL27 COMT MAPRE2 DVL1 JMJD1C DCHS1 BRCA2 COG1 POR DYRK1A FBXL4 CDC45 WDR35 ORC4 UBR1 SRY ELN ARID1B NOTCH2 RSPO1 ZFPM2 NIPBL KMT2D GLI1 CUL7 EIF4H KIFBP MKKS HMGA2 BNC2 NSUN2 SMCHD1 FANCA CDH11 COL7A1 TMEM94 AFF4 RPL15 DHCR7 FBLN5 SETD2 UBE4B BRD4 CDCA7 BUD23 CCDC22 UBA1 MKS1 KANSL1 HIRA EVC PIEZO2 CLDN3 PRKAR1A CREBBP PTDSS1 ARL6IP6 SETD5 TMEM216 MYMK RPL10 SYNGAP1 HSPG2 FERMT1 CC2D2A SOX9 ZMPSTE24 RPL31 KDM5B PEX2 MECP2 NAA10 SIAH1 ERMARD WNT3 TONSL HSD17B3 ADAT3 CYP17A1 FANCF KDM6A PEX14 FGF10 CHRNG ARVCF LETM1 ISL1 CTC1 NR0B1 B3GLCT KLHL40 IGF2 RREB1 FZD2 LMNA WASHC5 BRCA1 TMEM270 RPS17 PDPN SOX11 CILK1 NR2F2 CHRM3 CEP290 RAD51C NDUFS4 NSD2 RPS28 PSPH ZMIZ1 RPS15A BCOR WT1 TMEM231 GTF2IRD1 POLR3A RIPPLY2 RPL18 PEX1 DYNC2LI1 ESCO2 TCTN3 RPL35 PEX26 TERC FOXF1 RPL35A RTTN KDM1A DYNC2I1 MESP2 LSS SLX4 ABL1 NELFA IFT80 PLEC NDUFB11 WNT5A RAC1 MID1 BMP4 CSPP1 TSR2 PITX2 APC2 DYNC2I2 DPF2 ARX GATAD2B EFEMP2 METTL27 VAMP7 PSMD12 SMARCB1 KARS1 CDC42 XRCC2 CYB5A PPP1R12A DLL3 TMEM63A MAP3K7 CDC6 PEX5 EPG5 RPL5 PCNT NOP10 FGFR1 HSD3B2 TFAP2A SRD5A2 TBX22 FGFR2 LUZP1 SMARCA2 CYP21A2 TTC8 MMP1 RPS26 FANCC RFC2 ORC1 HBA2 IKZF1 UBE2T NPM1 LAMA3 RAD51 SMARCD1 OGT ALG12 ORC6 PIGG ARID1A TMEM237 MAD2L2 TMEM107 SOX4 STAR PEX11B COLEC11 HLA-B ZIC3 TTC37 CLIP2 FOXC1 FANCE ABHD11 MTM1 SCUBE3 FLT4 EHMT1 CLMP NSD1 SMARCE1 RPGRIP1 BDNF FANCI LAT2 STX1A KCNAB2 CCDC8 RLIM SAMD9 RPS19 HES7 SMARCA4 MLXIPL FANCL RPS7 ACTA1 RBBP8 LIMK1 SKI HYLS1 SIX6 FRAS1 BAZ1B RPL11 MTOR RIN2 DVL3 UFD1 LIG4 KDM3B RTEL1 CASZ1 PRDM16 SMC3 HBA1 WRAP53 PEX13 USB1 TAPT1 SMC1A GTF2IRD2 FGFR3 GP1BB ATP6AP2 THOC6 FKBP6 CLDN4 VPS37D FANCG PNPLA6 TCTN2 BRIP1 FANCD2 SMG8 GABRD FANCM PALB2 PKP1 WNT7A CUL4B HP_URETHRAL_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETHRAL_OBSTRUCTION BAZ1B TBX1 GTF2I RIN2 SALL1 MAP3K7 GTF2IRD1 CLIP2 ELN PARN TERT ABHD11 RTEL1 CDC45 FERMT1 DKC1 LAMB3 FLT4 SRCAP NOP10 ITGA6 WRAP53 NSD1 TERC LRIG2 USB1 GTF2IRD2 LAMC2 EIF4H FLNA ITGB4 LAT2 NHP2 MMP1 STX1A NCF1 BNC2 MKKS TINF2 RFC2 TP63 FKBP6 PLEC COL7A1 CTC1 HPSE2 CLDN4 DNAJC30 VPS37D IGF2 SETD2 NPM1 MLXIPL LAMA3 APC2 CHRM3 BUD23 TMEM270 METTL27 BCL7B POLA1 TBL2 DACT1 LIMK1 CLDN3 PKP1 HP_OLIGOSPERMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIGOSPERMIA DAZ3 SYCP2 CATSPER2 PMFBP1 ARMC2 M1AP CATSPER1 SUN5 ADGRG2 DAZ1 POR FSHB DDX3Y BLM TSPY1 STRC CFAP70 CNBP KLHL10 TDRD9 DAZ4 NR5A1 NR0B1 RBMY1A1 DZIP1 CFAP91 NR3C1 CEP19 TEX15 ALMS1 CFTR ANTXR1 CFAP65 CATIP DNAH17 USP9Y LHCGR DAZ2 POC1A DNAH10 CFAP47 HP_RENAL_STEATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_STEATOSIS ABCG5 SIX1 APOE EYA1 LDLR ABCG8 PCK1 LDLRAP1 PCK2 APOB PCSK9 HP_CYSTIC_RENAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYSTIC_RENAL_DYSPLASIA JAM3 TBX18 NEK8 BICC1 TBC1D24 BMPER CPT2 HP_IMPOTENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPOTENCE GNRH1 GUCY1A1 ABCD1 PDGFB CHD7 CACNA1G TERT MEN1 FMR1 TACR3 BAP1 HS6ST1 TTR CDKN2B DMPK KISS1 CDH23 CDKN1B GPR101 SMARCB1 GNRHR HAMP HEXB DUSP6 PROKR2 PROK2 SPRY4 HFE AKT1 TRAF7 SACS FGF17 CDKN2C BMP2 SLC40A1 CDKN1A COQ2 AIP HJV PIK3CA FGF8 NF2 SMARCE1 KISS1R WDR11 SUFU LMNB1 TFR2 FGFR1 ATXN8OS TAC3 PIGA NSMF SMO HP_RENAL_CORTICAL_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_CORTICAL_CYSTS ETFDH NEK8 CD96 ETFA KIAA0586 INVS CEP290 ETFB CDKN1C CSPP1 IGF2 KCNQ1 KCNQ1OT1 PIGQ TTC37 PEX1 PEX2 LIPT2 HP_ENURESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENURESIS AQP2 LRIG2 AGXT KY CLCNKB ELN DPH1 MLXIPL SLC25A13 FA2H KCNJ10 SLC12A3 DLG3 HPSE2 NPHP3 FAM20A BNC2 SLC5A2 FOXP1 AVPR2 RNF168 SMARCA2 HP_GLANDULAR_HYPOSPADIAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLANDULAR_HYPOSPADIAS MTM1 MAMLD1 MKKS HOXA13 MYMK HP_PENOSCROTAL_HYPOSPADIAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PENOSCROTAL_HYPOSPADIAS HSD3B2 CDH11 MTM1 MAMLD1 NR5A1 SRY COLEC10 HP_ABNORMAL_EXTERNAL_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EXTERNAL_GENITALIA CCDC32 KIAA0586 PIGA DUSP6 COLEC10 BUB1B FLI1 SEMA3A ERCC8 EIF2S3 KMT2D NR5A1 DPM1 FANCB INPP5E KANSL1 KISS1 FOS LAMB3 NDP TCTN3 H19 RERE WDFY3 MBTPS2 SMAD4 MRPS28 LIPE KAT5 IER3IP1 FXR1 MYRF DHX37 AGPAT2 ANKRD11 CBL SPEN MAP2K1 B9D1 ZEB2 FLNB CHRNA3 GJB2 SIN3A PEX12 SOS2 FAM111A SAMHD1 TSHB LMOD3 FGF8 KCNA1 NXN KCNMA1 SOS1 IDH3A SAG MAP2K2 CHST14 TMEM70 CCDC141 RAC3 PROKR2 HUWE1 PIGN FIG4 NRAS DIS3L2 CDON USP7 PRKCZ TACR3 PLAG1 CHEK2 TOPORS CEP41 DYNC2I2 PARN GUCA1B SUCLG1 CCDC174 PEX5 ARCN1 VAC14 IFT88 MAP3K1 ZSWIM6 MEG3 CDT1 PLD1 LRIG2 MED12 ERCC2 EXT2 PQBP1 LMNA RPS29 RPS10 LMOD1 PTCH1 NCF1 CREBBP HYMAI INSR ATRX SUFU LHX4 HNRNPK ERAP1 PROK2 SETBP1 SOX3 AEBP1 YWHAE DNAJC19 MDM2 SMARCA2 NF1 RPS24 B4GAT1 NAA10 JARID2 TBL1XR1 DMXL2 BICRA ARID2 ALKBH8 CYP11A1 PDE4D ARL3 MAPRE2 ZMIZ1 DCHS1 CEP152 COG1 POR FBXL4 KDM5C WDR35 DMPK SRCAP KIAA1109 GSC SHOC2 ELN ARID1B PDE6G SOX10 GLI1 EIF4H COL4A1 SPRY4 PACS1 KIFBP HPRT1 MAGEL2 OTX2 WFS1 B9D2 CRPPA AP1S2 CDH11 MED27 GMPPB ECEL1 FGFR1 BRD4 DHX38 HOXA13 GJC2 MKS1 FBN1 HIRA AFF4 GLI2 DACT1 PPP1CB CLDN3 ATN1 TEX11 TBX1 PTDSS1 SETD5 ATP6V1A TMEM216 ODC1 FGFR2 IL10 TBX4 HSPG2 LARGE1 TCF4 EHMT1 SDCCAG8 KAT6B CDC73 FERMT1 CC2D2A SOX9 ZMPSTE24 FKTN DISP1 SNRPN KCNN3 STAG1 NDN DCAF17 PWAR1 ADAT3 CYP17A1 RAPSN SYCE1 POLR1C TUB FGF10 ISL1 TOE1 GBA2 IGF2 VPS13B POFUT1 RTL1 RBP3 EIF5A TMEM270 RXYLT1 WT1 SATB1 RAF1 GATA1 NR2F2 CEP290 RAD51C UBR1 RPS28 BUB3 RIT1 HS6ST1 CA4 PTEN RPL18 VEGFC SLC25A24 RAB3GAP2 BBS12 SOX18 ESS2 NFIX CYP11B1 KCNQ1OT1 C4A FANCA GLI3 CXCR4 ZIC2 TCOF1 LSS FGD1 MECP2 SLX4 ATP6V0A2 RAC1 MID1 BMP4 PRKAR1A HSD17B3 BBS5 MBD5 RPGR FTO KISS1R EED RNF113A METTL27 VAMP7 AMHR2 BLM CKAP2L NALCN KIF7 PSMD12 CUL4B MUSK CYB5A PPP1R12A HS2ST1 PPP1R15B MAP3K7 UBE3B PUS7 COLEC11 HSD3B2 PIGS PDE6D XPA SPECC1L SUZ12 TFAP2A NR0B1 RLIM MMP1 FKRP RFC2 UPB1 SCAPER UBE2T B3GLCT ITGB4 OCA2 DDB2 IFT172 FEZF1 FMR1 AR ORC6 DDX6 PIGG SLC18A3 SEMA3E KMT2E HLA-B CLIP2 EVC EBP SCUBE3 OPHN1 LETM1 SMARCE1 PHGDH BDNF HESX1 NNT PAX6 CENPT GJA1 ATP6V1E1 TRIP12 HGSNAT TPM2 WDPCP SAMD9 IFT140 RPS19 DNMT3A SMARCA4 FANCL LAS1L ACTA1 KAT6A RBBP8 BEST1 SRY ERCC6 SIX6 RPL11 DPYSL5 NDNF ATAD3A ARX RNU4ATAC POGLUT1 WDR11 SMC3 LZTR1 ANGPT2 INSL3 DYNC2I1 TAPT1 SMC1A ESR2 GP1BB ESCO2 STAC3 SKI RPL10 TTC8 LZTFL1 DYNC2H1 COL7A1 PRKDC TWIST1 CFAP47 PCNT GPC6 FANCD2 KDSR FAT4 GNRH1 PROM1 GTF2I SLC35D1 KRAS ARL6 TERT DNAJC21 CCR1 MCTP2 C2CD3 MED25 IDH3B SPTBN1 HFE RAB18 FZD2 SGPL1 ATIC FREM2 COX7B PLAGL1 GPC4 RFWD3 RGR STRA6 CWC27 PRPF31 OTUD5 CRX TUBB STT3A SATB2 BPTF PEX16 PTPN23 SMS RPS20 DKC1 IGBP1 BBS4 MADD AMH ADNP STAT4 DVL3 USP9Y RPGRIP1L LHCGR TMEM67 MNX1 IRF6 REEP6 FOXA2 HPDL HCCS NODAL SMARCC2 COL3A1 DNAJC30 GMNN FLNA MAB21L2 SALL1 BCORL1 CDH2 CDKN2A SLC26A2 SYCP3 CHD7 MCM5 AGO2 PTPN11 TXNDC15 POC1A SLC39A4 USP9X SEC24C SHH SOX2 RPL27 POLR1D DHDDS INTU GJB4 ORC1 ERCC1 DYRK1A WASF1 MCM8 POMT2 GRIA2 ZFPM2 PNKP CRB1 CDKN1C BRAF HERC1 DHCR7 UBE4B BBS2 TDRD9 CDCA7 MEFV PIEZO2 TCF20 NSMF ARL6IP6 FSHB KAT8 LHB PHF8 MAMLD1 GTF2E2 CPLANE1 ORC4 PEX2 SIAH1 MYH3 CEP120 WNT3 ALX4 PRPF6 FANCF RDH12 TBC1D20 XRCC4 ARVCF TAF6 KCNH1 KIAA0753 RP2 DLL1 TRAPPC4 POMGNT1 TAC3 STXBP1 STS RORA THOC2 PSPH LONP1 DLX4 BRWD3 CCNQ GTF2IRD1 SIX3 NTNG1 GATA4 TBX3 HNF1B NUP88 RSPO2 RPL35 TERC ACTB RPL35A RAB3GAP1 POMK DAZ3 BCOR PRPF3 SLC12A2 NDUFB11 WNT5A CCDC28B PITX2 PSAT1 FLT4 XYLT2 AXL NR2E3 DCX KARS1 XRCC2 DLL3 MEIOB FGF17 MYMK TMCO1 NOP10 ECE1 IL12A-AS1 MED13L DSE TGDS NONO SRD5A2 YY1 HDAC8 PEX6 FANCC TP63 POMT1 LAMA3 AGBL5 SMARCD1 HPSE2 GNRHR CHUK MKKS PLVAP SLC7A14 MAD2L2 SOX4 RAB23 TWIST2 STAR SMOC1 WRN BIN1 FOXC1 STT3B MTM1 TBX22 LAT2 MINPP1 ROR2 NRL MASP1 CHRM3 RPS7 DGCR6 CYP19A1 CDHR1 BSCL2 LIMK1 SLC19A2 FRAS1 UBA1 RYR1 LIG4 CLRN1 IFT27 LHX1 WNT7A USB1 ALG12 MOGS PAFAH1B1 OFD1 ATP6AP2 VPS35L NSD1 RASA2 NPAP1 FANCG CTU2 BRIP1 GABRD DLK1 SNORD115-1 FANCM PALB2 TNFRSF1A WNT4 ATR A2ML1 PCARE HERC2 BBS1 GJB6 ITGA6 ANOS1 TNRC6B ASH1L OBSL1 PAX7 TNXB DHH DHCR24 ADAMTS3 DAG1 GATA5 FAS PEX3 AGA IFIH1 SC5D NKX2-5 EZH2 JAM3 RPS27 ALDH18A1 KIAA1549 NHP2 ERCC4 SDHC AKT1 GRIP1 BBS9 CTBP1 NOTCH3 CDKL5 IMPG2 OTUD6B EMG1 POLG NDUFA8 ZNF699 CTCF GPC3 ATPAF2 PHIP RARB MTOR LAMC2 SIK1 ZDHHC9 MEGF8 MRAP FDFT1 POLE SPATA7 CLIC2 SLC25A10 MYOD1 CDKN1B PIK3C2A PEX19 RRAS2 CLP1 COG5 PSENEN SETD1A CD96 UBE2A PRRX1 BCL7B PPARG MYLK ROM1 KLHL41 RECQL4 SCYL2 BUB1 COMT IL23R DVL1 BRCA2 GDF1 SRA1 MPLKIP CDC45 PTCH2 USH2A TBCE RSPO1 LMX1B HMGA2 FLRT3 TULP1 BNC2 CITED2 PACS2 NEK1 SVBP RRAS TMEM94 FUZ TANC2 CNGA1 POLR1B FSCN2 AKR1C2 TARS1 BUD23 HRAS SDHD VANGL1 SOHLH1 HHAT SNORD116-1 PMM2 ACTG2 PNPLA6 SYNGAP1 LMBR1 KIZ TAF4B RLBP1 PEX11B PWRN1 KDM5B AUTS2 NANOS1 FANCE ERMARD MAB21L1 PHF6 CFAP418 MKRN3 DOCK3 GLE1 KLHL15 KLHL40 JAG1 EDEM3 BRCA1 TRIM32 GHR CEP19 G6PC3 PDPN NDUFS4 SIM1 KEAP1 HIBCH UBAC2 POLR3A ARL2BP RIPPLY2 PEX1 HYLS1 DYNC2LI1 PHF21A CHRNG PEX26 PIGQ RTTN NPHP1 KDM1A MESP2 EYS TEX14 ABL1 NELFA IFT80 PLEC GPR161 PRCD FGFR3 RNF135 TRIP4 B4GALT7 BBS7 TGIF1 SMO PIEZO1 EFEMP2 MYF6 MAPK1 TLR4 CDC6 GJB3 FARSB LMNB2 SLC34A2 PHACTR1 TSPY1 ZBTB20 SEC23A EPG5 SYNE1 ERCC3 DPAGT1 CDC42 RP9 LUZP1 RPS26 ACTL6A MAPK8IP3 XPC ANK1 IKZF1 GALT RAD51 OGT NOTCH2 USF3 SLC25A22 PROP1 ARID1A TMEM237 TMEM107 ZPR1 ALOX12B RNASEH2C SCN2A ABHD11 LRAT DOK7 CLMP RNASEH2A DGCR2 NEUROD2 DCC POLD1 LEP FANCI CCBE1 KDM6A CTDP1 STX1A CCDC22 BMP2 PRPF8 CCDC8 TP53 UQCC2 AHI1 HES7 RIPK4 NKAP SDHB RIN2 IL12A DNM2 UFD1 MED13 SNRNP200 MRAS MAF NEK2 AHR DICER1 NR3C1 WRAP53 CSPP1 GTF2IRD2 RP1L1 CHD4 ANAPC1 VPS37D BRF1 PKP1 ANKLE2 LFNG ARNT2 ADA2 POU3F3 HOXD13 GPR101 MMP23B C14orf39 UBR7 ROBO1 SMCHD1 CAVIN1 TCTN1 EWSR1 PEX10 WDR37 EFNB1 OCRL AIP GRIA4 ACTL6B PIGP TBL2 DMRT3 EP300 NEDD4L PYCR1 KLLN NKX2-6 NKX2-1 KATNIP TRAIP TBX15 CARS1 PRPH2 CASK SSR4 FOXH1 ALMS1 FARS2 POMGNT2 FGFRL1 WWOX DPM2 CPLX1 MED12L TINF2 RPL26 CNGB1 PUF60 ARHGEF18 IL1RAPL1 MYLPF GDF6 SEMA4A KDM4B KLHL10 BBIP1 ADAR POLA1 GTF2H5 MTMR14 TASP1 EVC2 RAD21 TALDO1 BRCC3 NEB SIL1 TRIM8 JMJD1C ERCC5 SLC29A3 TREX1 MECOM NIPBL CUL7 ZBTB16 MAK PBX1 ATP6V1B2 NSUN2 PIK3CA RPL15 FBLN5 SETD2 TBCD PORCN STIL RBMY1A1 CNOT3 KLHL7 CPE TBC1D24 ABCD4 B3GALNT2 TSPYL1 ALOXE3 KRT5 KCNQ1 RPE65 TBCK RPL31 POU1F1 RBM10 GFM2 ALG8 KCNJ6 TONSL STK11 PRPF4 PEX14 GJA5 TDGF1 CTC1 ACTA2 NECTIN1 FAM161A RREB1 INPP5K TRMT1 WASHC5 RPS17 CDK8 FBXW11 RBMX SOX11 CILK1 NSD2 GAD1 MYT1L RPS15A TMEM231 INPPL1 CFTR PDE6A KLRC4 FOXF1 LEPR DAZ2 DHODH SCN1B ADARB1 TSR2 APC2 IMPDH1 POLR3K DPF2 GATAD2B DGCR8 PDE6B IFT74 RHO SMARCB1 IRX5 GNAO1 TMEM63A ATM GRIA3 ZMYND15 RPL5 NFIB MC2R RNASEH2B GNAS TOGARAM1 CYP21A2 ZNF408 HBA2 RP1 FAM149B1 DMRT1 NPM1 CERKL GK PRMT7 GAS1 PALS1 ABCA4 DDX3Y ZIC3 TTC37 UPF3B IL17RD TEX15 MYH11 RPGRIP1 KMT5B TXNRD2 KCNAB2 DAZ1 ASXL3 CBX2 MLXIPL NEXMIF ZNF513 TRRAP KDM6B BAZ1B FDXR CLCN4 SLC16A2 MERTK EBF3 SEC23B KDM3B GATA6 RTEL1 CEP57 CASZ1 PRDM16 NTNG2 HBA1 PTRH2 PEX13 CAV1 BMPR1A THOC6 FKBP6 AKR1C4 CLDN4 HTT TRIP13 FBLN1 DAZ4 TCTN2 SMG8 IFT81 BBS10 HP_ABNORMAL_INTERNAL_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_INTERNAL_GENITALIA GNRH1 PPARG RAD51D HOXA13 COL1A1 MKKS GTF2I HDAC8 GALK1 PALB2 BUB1B LFNG WNT10A SUFU HLA-DPA1 F7 VHL FLI1 SEMA3A HNF1B LMNA FMR1 BBS1 ARL6 NR5A1 AR TERT KISS1 FOS HOXD13 NDP AKT1 ANOS1 DDB1 ALG9 FH RSPO2 SOX3 LIPE FAS RPS6KA3 TNXB ANTXR2 DHH CAVIN1 RAD51 MRPS22 PIK3CA NHP2 MYRF TGFBR2 DHX37 AGPAT2 PTPRJ SMAD3 BRCA1 EWSR1 PMS2 GREB1L INSR ZEB2 ZFHX3 RBM8A CCND1 NUP107 CDH1 FREM2 DLC1 COX7B MLH3 WDR11 HGD FGF8 MSH6 DCAF17 MSH2 CFTR TBL2 PTEN DMRT3 RFWD3 MRE11 DYNC2H1 AXIN2 NPHP4 ERCC4 KLLN CLEC7A STRA6 FIGLA SDHC GRIP1 PHKG2 TACR3 TP53 TRAIP PIGN CCDC141 TP63 BBS9 MKS1 FGFR2 BNC1 MSH3 CHEK2 FLCN SEMA4A PARN STAT6 WNT4 POLG CDH23 DKC1 SCAPER PAX6 RET RELA TRAF3IP1 ALMS1 CEP290 MAP3K1 TWNK RARB BMPR1A PALLD HFM1 ERCC2 FGFRL1 WWOX PROK2 DCC CPLX1 GATA3 SPINT2 IRF6 SOX9 NCF1 FGF17 TINF2 FOXL2 HCCS FSHR COL4A5 COL3A1 DNAJC30 CLPP AKT2 CDKN1B SALL1 ITGA8 CDKN2A SRCAP RIPK4 SETBP1 HESX1 ADH5 COL5A2 DACT1 MDM2 POR CHD7 BBIP1 BCL7B GTF2H5 PTPN11 PTCH1 ATM PSMC3IP RAD21 CCNQ MLH1 SEC24C LZTFL1 BMP15 CYP11A1 POLR1D CTNNB1 BRCA2 BUB1 COMT ANAPC1 FLT1 POLG2 JMJD1C NAB2 MPLKIP WDR35 DMPK MCM8 HSD17B4 POLD1 BARD1 PHKA2 UBR1 SRY ELN TRAF3IP2 IL17RC ZFPM2 GLI1 EIF4H SPRY4 LMNB2 RIN2 NIN GLI3 FLRT3 NKX3-2 IDH1 NTHL1 CDKN1C PLG FANCA STK11 COL7A1 PPP2R1A DHCR7 PRKN C14orf39 ESR1 POLR1B FGFR1 BRD4 TARS1 BUD23 BTK SDHD MXI1 HIRA PDGFRL PSMB8 B4GALNT1 WT1 CLDN3 NSMF CLDN2 BSCL2 FGF10 PTCH2 PMM2 TBX1 IQCB1 TSC2 FANCB LRP2 LHB INVS KCNQ1 TBX3 EVC2 CREBBP NBN SDCCAG8 GTF2E2 CDC73 SMAD4 FAN1 WNT3 HSF2BP PHF6 SPIDR CFAP418 DUSP6 ZFTA BMPR1B CYP17A1 WDR19 FANCF POLR1C PHGDH ARVCF CAPN15 MYC CTC1 NR0B1 B3GLCT FEZF1 RREB1 IL10RB EP300 TMEM270 BBS4 BBS2 TRIM32 KRAS CTLA4 MAMLD1 TAC3 AMHR2 CEP19 MMP2 CXCR4 NR2F2 RAD51C GATA4 SALL4 RNF43 KEAP1 LONP1 BUB3 ARHGAP31 HS6ST1 GTF2IRD1 RIPPLY2 KIF7 MAD1L1 HYLS1 DYNC2LI1 ESCO2 SLC6A17 BBS12 TERC FOXF1 NSD2 LEP CYP11B1 FGFR3 KCNQ1OT1 IFT27 LEPR PROKR2 NPHP1 DYNC2I1 BCOR MESP2 UNG TCOF1 SLX4 IFT80 NDUFB11 FSHB CCDC28B AIP BMP4 RNASEL POF1B DYNC2I2 BBS5 BBS7 EIF2B5 NRAS KISS1R RNF113A MCM3AP METTL27 TGFBR1 NIPBL VAMP7 SOX10 SEMA3E RECQL4 ARID1B BRIP1 KIF14 IFT74 JAK3 OPCML GREM1 TSC1 CYP19A1 LARS2 ADGRG2 XRCC2 PPP1R12A DLL3 APC MEN1 SLC34A2 TTI2 FGF20 RPS20 TOE1 CYB5A NOP10 ERCC3 PRLR SLC37A4 ZMPSTE24 GNAS ERCC6 CC2D2A COL4A6 INTU HNF1A SRD5A2 GALT EIF2B2 DIAPH2 RAD54B PRKAR1A HLA-DPB1 FANCC RFC2 RCBTB1 IL17RA SOHLH1 AIRE IGF2 UBE2T USP8 DMRT1 NPM1 IL17F IFT172 HARS2 USF3 NPHP3 STAG3 AARS2 MAD2L2 ERBB2 PLIN1 SRC AURKA ZPR1 CTBP1 PRTN3 WRN RASGRP1 CLIP2 THOC6 EVC FANCE ERAL1 ABHD11 MTM1 POLR3H AAGAB IL17RD LETM1 GNRHR CASP10 RABL3 COL14A1 FANCI TLR2 LAT2 STX1A MINPP1 EIF2B1 CORIN WDPCP FREM1 CBX2 RXYLT1 SLC35A2 STOX1 HES7 EPHB2 COL5A1 MCC FANCL CHRM3 EPCAM SETD2 OFD1 LIMK1 BRAF FRAS1 MMP14 SF3B4 BAZ1B CEP164 SDHB NOBOX NDNF BAX UFD1 PMS1 SEC23B RTEL1 CEP57 SPECC1L SMC3 DICER1 PTPN12 MNX1 AMH WRAP53 WNT7A USB1 SMC1A GTF2IRD2 EIF2B4 CAV1 TBX6 GP1BB KLF6 RAD50 POLE PTPN22 PRKCD TTC8 FKBP6 AXIN1 CLDN4 BLM VPS37D TRIP13 FASLG FANCG MLXIPL MT-CYB MSX1 IDH2 PLA2G2A PAX3 CIDEC TCTN3 EIF2B3 FANCD2 FANCM BBS10 HP_BICORNUATE_UTERUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BICORNUATE_UTERUS CCNQ SF3B4 FRAS1 GRIP1 LARS2 HOXA13 PIGN XRCC2 FANCB STRA6 LRP2 SRY WT1 HNF1B BRCA2 ALG9 ESCO2 FANCE SPECC1L RIPK4 MNX1 FGFR2 FOXF1 TNXB FANCI FANCF FANCC RARB SLX4 FANCA UBE2T DHCR7 FANCG FREM2 ITGA8 FGFR3 FANCL RAD51 BRCA1 SETBP1 BRIP1 FANCD2 RFWD3 FANCM ERCC4 PALB2 MAD2L2 FGF10 RAD51C HP_HYPERGONADOTROPIC_HYPOGONADISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERGONADOTROPIC_HYPOGONADISM BRCC3 RRM2B COQ2 GATA4 MRE11 CYP19A1 BMP15 GALK1 RIN2 ITGB6 ALMS1 ZBTB20 FANCB DMPK POLG GNAS CYB5A SIL1 SOX9 WT1 TWNK AHSG FANCE NR5A1 LEP SLC29A3 ZFPM2 WWOX FANCA LEPR DCAF17 BMPR1B LSS LMNA GALT CTDP1 PMM2 FANCC FOXL2 MAP3K1 NR0B1 POLA1 AMACR SAMD9 CLPP FANCD2 POLR1C DHX37 TYMP POLR3A DHH SRY VAMP7 SCP2 DMRT3 LHCGR CYP17A1 MGME1 POLR3B HP_ABNORMALITY_OF_KREBS_CYCLE_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_KREBS_CYCLE_METABOLISM MT-TV MT-ND3 MT-ND2 PRDX1 MT-ND4 MT-ATP6 MT-TW FXN FH MMAA MT-TL1 MT-ND5 MT-ND1 OGDH MT-ND6 MT-TK MMACHC MMAB MMADHC HP_POOR_EYE_CONTACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_EYE_CONTACT NDUFS4 NEUROD2 RAB11B IREB2 FMR1 GRIN1 NDUFAF4 GPHN ALG13 SPEN MEF2C GABBR2 NDUFS7 STXBP1 RARS1 NDUFAF2 COX10 NDUFV2 SLC25A1 NTNG1 ADSL SPTBN1 NDUFS1 NDUFB11 NDUFA11 DLK1 NEXMIF ST3GAL3 DEAF1 MT-ND2 NDUFAF5 CDKL5 TWNK SMC1A FRMPD4 RTL1 NTRK2 ARFGEF2 NALCN SYT1 NDUFS2 NDUFAF8 CACNA2D2 FOXG1 MICOS13 UGP2 GRIA3 MT-ND3 NDUFAF3 SLC25A12 TBC1D23 SHANK3 GNB5 NDUFS6 KCNT1 PIGP SMG9 NDUFA1 MECP2 GALNT2 NDUFC2 PUF60 TIMMDC1 GFM2 DOCK7 FOXRED1 NUBPL AGTPBP1 NDUFS3 UBA5 NDUFA6 GABRA2 NDUFB10 CUX2 NDUFA13 NDUFV1 MEG3 MT-ND1 SPATA5 NDUFB9 AP3B2 CLP1 GFM1 FLCN NDUFS8 NDUFAF1 NDUFB3 TMEM126B OPHN1 HP_ABNORMALITY_OF_THE_THYROID_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_THYROID_GLAND EXT2 FOXE1 GTF2I HBB BUB1B DNAH1 HNF1B LMNA KMT2D PTCH1 MT-ND6 FOXI1 CDKN2B ERBB2 EXOSC2 SOX3 DDB1 MMP23B NR1H4 RET DLL1 TDGF1 FGF8 CLPB GLI2 STEAP3 UBR7 FAS ROBO1 GDNF DCLRE1C HFE PIK3CA TGFBR2 CTNS MSTO1 SPEN MT-TS2 SGPL1 PMS2 SIX3 PRKAR1A INSR CTLA4 NEXMIF CDKN1C IRS4 TSC2 IFIH1 SAMHD1 TSHB MLH3 POLG2 POU1F1 SLC16A2 RBM28 EYA1 DCAF17 CACNA1S MSH2 FOXH1 TBL2 STAT3 PTEN KLLN NKX2-1 GNAS GABRA3 PDGFB ATP8B1 KATNIP SDHC IL7R FOXD3 SEMA3C ZIC2 CDON RERE PRKCZ SLC26A4 PLAG1 BAP1 C1S CHEK2 SEMA4A SAA1 WDR4 CDH23 LHX3 DMXL2 FMR1 MADD HESX1 ALMS1 STAR LIG4 BMPR1A SRD5A3 GLIS3 HLA-DRB1 MINPP1 NCF1 MRAP FOXA2 NODAL TGIF1 SMARCC2 LHX4 DNAJC30 CDKN1B HNRNPK PIK3C2A SALL1 NRAS CDKN2A RRM2B TG MT-TW TREX1 SETBP1 MDM2 ADAR BCL7B ZFP57 WFS1 POLG ARNT2 DISP1 CACNA1C DUOXA2 SEC24C PAX8 BICRA ARID2 HLA-DQB1 IL12A PDE4D IYD SHH FANCI POLR1D BUB1 COMT SOCS1 DICER1 EIF2AK3 ANAPC1 SLC5A5 GNE JMJD1C TRH ERBB3 BIRC3 TSHR KISS1R DMPK MCM8 STAT1 HABP2 UBR1 KCNJ10 ELN ARID1B MAGEL2 TANGO2 NSDHL EIF4H NIN ITCH HMGA2 SASH1 GLI3 FOXP3 PROP1 IDH1 ZFAT CTNNB1 JAG1 AFF4 NPHS1 MEN1 SETD2 DNM1L UBE4B FGFR1 POLR1B SNRPN ABCD1 APOE BUD23 SUGCT DUOX2 SDHD RAI1 OPA1 MT-TL1 KANSL1 HIRA CPE DACT1 CLDN3 ADAMTSL1 SMO MDM4 TBX1 TBC1D24 ARL6IP6 SIX1 APC MALT1 RPL10 HSPG2 MPI PLCG2 POLR3GL PLAA TBCK CDC73 XRCC4 LRBA HYMAI SRGAP1 ABCB11 IRF5 FAN1 ALG8 USP9X TONSL MT-TF NDN HSD17B3 ADAT3 ATP7A POLR1C PMM2 SREBF1 CDKN2C MT-TQ TRPV6 ARVCF MTTP CDKN1A FGF13 SRY TPO RREB1 TTC7A CEP57 IL18BP TMEM270 BCL10 ALX4 PDPN MMP2 TF TRHR LEPR SOX11 SUFU IL2RA ABCB4 SIM1 ENPP1 KEAP1 BUB3 MT-TN MT-TS1 MLH1 GTF2IRD1 KCNJ18 DEAF1 KAT6B PHF21A NKX2-5 SLC6A17 KRAS FLII C1QBP GCH1 GRM7 TRMT10A LEP AKT1 BCOR TCOF1 GPR161 GPR35 NLRP1 DNAJC19 AIP BMP4 APC2 WDR11 ABCC8 GAS1 DPF2 ECE1 PIEZO1 TMEM67 METTL27 PROKR2 MT-TH TRAPPC9 BRAF ATP6V1B2 CHD7 LIFR SMARCB1 GREM1 KARS1 TBX2 STAG2 RAG1 ACP5 TCF4 PPP1R15B POMC FARSA MARS1 ZBTB20 THRB MT-CO1 RPS20 MC2R TNFSF15 RNASEH2B ABCC6 SLC37A4 IFNG RAG2 LUZP1 ADA2 SPOP TRAF7 YY1 OCA2 RFC2 RCBTB1 SEMA4D AIRE FUCA1 SVBP TTC37 B3GLCT DDOST FOXP1 SMARCD1 HPD FLCN SLC25A4 USF3 SLC12A3 MSH3 LRP4 NNT CYP27A1 SEC23B MT-ND4 PLVAP MT-TL2 ARID1A SOX4 RNASEH2C CLCNKB SMC1A EDNRB GATA6 SEMA3E WRN RASGRP1 CLIP2 TNPO3 ABHD11 RNASEH2A NSD1 CASP10 SMARCE1 IGF2 FDX2 MSH6 FUT8 THRA MT-CO2 TXNRD2 CCBE1 LAT2 SEMA3D KDM6A STX1A KCNAB2 IL12RB1 JAK1 BTNL2 TP53 STAT5B NRTN SMARCAL1 NF2 SMARCA4 MT-ND1 MLXIPL EPCAM MT-ND5 TWNK IL2RG SCN4A LIMK1 IQSEC2 SKI MMP14 EDN3 BAZ1B SKIV2L SDHB TERT MT-CO3 POLR3A PLAGL1 MMEL1 GATA1 CASR UFD1 PMS1 OTX2 TSC1 CASZ1 PRDM16 MST1 PTRH2 GTF2IRD2 KCNJ11 STUB1 GP1BB MOGS HRAS PRKCD DYRK1A IGSF1 POU3F4 HLA-DQA1 FKBP6 ADA POU2AF1 CLDN4 VPS37D TRIP13 FASLG IDH2 RMRP SPIB GABRD TBL1X PCSK1 HP_DELAYED_PUBERTY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_PUBERTY GNRH1 EXT2 GATA4 RPL10 HDAC8 NLRP3 HBB HS6ST1 DNM1L HERC2 SEMA3A LMNA EIF2S3 RAI1 DEAF1 SLC37A4 TGFB1 RAB3GAP1 PHF21A RBM28 TRMT10A KISS1 NUP107 SOX3 FLII NDP TBX3 RAB3GAP2 ANOS1 NR5A1 ROBO1 PROKR2 SPTBN1 MRPS22 GLA CTNS FGD1 SNRPN GHR FSHB GPR161 TBC1D20 AIP POF1B GBA WDR11 FGF8 TRIP4 CHD7 DCAF17 WT1 SRY NIPBL FGF17 ALDOA VAMP7 SOX10 STAT3 SEMA3E DMRT3 BRAF NF1 PHKG2 DUSP6 TACR3 CCDC141 MAGEL2 PPP1R15B ATM MEN1 CARS1 POMC NDN SLC12A3 CDH23 CYB5A HESX1 POLR3A ALMS1 ZMPSTE24 YARS2 WWOX PROK2 NONO LPIN2 MMP1 OCA2 PYGL FOXA2 LHX4 PUS1 SALL1 GALT ENTPD1 SCARB2 OCRL PTPN11 WFS1 PROP1 PSMC3IP RAD21 BRCC3 FGFR1 FSHR HLA-DQB1 BMP15 CYP11A1 CLCNKB GMNN STAT1 PHKA2 IGFALS POLR3H IL17RD GNRHR SLC29A3 NOTCH2 DCC ZFPM2 SPRY4 RAB18 CENPT VPS13B FLRT3 GHSR CTNNB1 PNPLA6 STAT5B BNC1 MSMO1 KISS1R BRD4 PGM1 TAF13 BTK CISD2 SNORD116-1 CYP17A1 CPE DACT1 IQSEC2 NSMF INSR NDNF POLR3B ATAD3A GLI2 POLR3GL OTX2 SLC25A13 NR0B1 SOX9 SMPD1 PWRN1 SMC3 PTRH2 POU1F1 USP9X SMC1A PHF6 SPIDR STUB1 MKRN3 PWAR1 HLA-DQA1 POR MAP3K1 COL7A1 NPAP1 DHX37 FEZF1 FAM111B CDON G6PC1 EIF5A TAC3 MAP3K7 ALX4 AR SNORD115-1 LEPR PCSK1 CUL4B HP_HYPERINSULINEMIC_HYPOGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERINSULINEMIC_HYPOGLYCEMIA CEL HNF4A ABCC8 KLF11 NEUROD1 MAFA SLC16A1 KCNJ11 BLK APPL1 HADH GLUD1 MPI CDKN1B GCK TRMT10A PDX1 MEN1 PAX4 HNF1A YY1 INS INSR UCP2 HP_ABNORMALITY_OF_THE_PARATHYROID_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PARATHYROID_GLAND GCM2 SEC24C CDC73 CYP2R1 FAM111A GATA3 NF1 MT-TS1 HBB CLCNKB COMT MT-TL1 SLC12A1 ATP7B SEMA3E JMJD1C MT-ND6 HADHA FOXI1 STX16 CDKN2B DMPK MEN1 GNAS CDKN1B YY1 KCNJ10 PIGT ESS2 DGCR2 TBCE FLCN PRMT7 MT-CO2 CASR MT-TS2 IDH1 VDR NSUN2 TBX1 MT-ND1 HADHB PTH DGCR6 MT-ND5 HIRA DGCR8 MT-TH PRKAR1A GNA11 CHD7 NKX2-1 IRX5 TBX2 PTEN MT-CO3 SLC26A4 CYP27B1 UFD1 LIG4 TSC1 MT-CO1 COL4A5 TSC2 PLEKHM1 PTH1R AP2S1 GP1BB CLDN10 MT-TF KL CDKN2C MT-TQ ARVCF GNAS-AS1 AIRE ACTG2 CDKN1A RET MT-TW RREB1 PDE4D IDH2 SLC12A3 OCRL MT-ND4 HP_HYPOPARATHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPARATHYROIDISM TBX1 SEC24C NKX2-1 FAM111A GATA3 IRX5 TBX2 MT-TS1 HBB MT-CO3 COMT MT-TL1 ATP7B JMJD1C MT-ND6 HADHA UFD1 LIG4 MT-CO1 COL4A5 PIGT ESS2 DGCR2 TBCE PTH1R GP1BB MT-TF MT-CO2 GCM2 MT-TS2 MT-TQ ARVCF NSUN2 AIRE MT-ND1 MT-TW HADHB PTH DGCR6 RREB1 MT-ND5 HIRA DGCR8 MT-TH MT-ND4 HP_INSULIN_RESISTANT_DIABETES_MELLITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INSULIN_RESISTANT_DIABETES_MELLITUS PLIN1 PPARG KLF11 ALMS1 BLK EIF2AK3 APPL1 LMNA NSMCE2 PLAGL1 GATA6 PDX1 ZFP57 PIK3R1 PAX4 INS HYMAI KCNJ11 ABCC8 HNF1A GCK LIPE LEP LEPR INSR ZMPSTE24 CNOT1 XRCC4 PTF1A CEL NEUROD1 AGPAT2 HNF4A AKT2 STAT3 MTX2 DCAF17 CIDEC BSCL2 HP_ABNORMALITY_OF_THE_ADRENAL_GLANDS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ADRENAL_GLANDS WNT4 GATA4 SDHD PEX6 HBB IARS2 KLHL3 ARMC5 KCNJ1 SLC12A1 HERC2 CLCN2 VANGL2 NFKB2 SCNN1G PEX1 RBM28 CDKN2B VHL MEN1 PEX10 TP53 CYP11B2 APC PEX26 PEX3 NR5A1 HSD11B2 CYP11B1 STEAP3 KCNQ1OT1 ROBO1 ANTXR2 AKT1 BCOR GLI3 TCOF1 BAP1 SGPL1 KANSL1 SNRPN TMEM127 INSR POMC CDKN1C SDHB GPR161 PEX12 AIP BMP4 PIK3CA SCNN1B TBC1D7 WDR11 KCNJ10 POLE RET WT1 WNK1 SRY LIPA VAMP7 SEMA3E DMRT3 MCM4 PROKR2 BRAF ATP6V1B2 PEX11B CLCNKB PDGFB PEX14 SDHC MAGEL2 KCNJ2 MKS1 PEX16 PEX5 CHEK2 NDN CYP17A1 SAA1 CUL3 CDH23 HESX1 MC2R HSD3B2 DLST STAR SLC26A3 GNAS WWOX ZMPSTE24 CYP21A2 HLA-DRB1 CACNA1D TRAF7 MAX OCA2 MRAP PRKAR1A AIRE KCNJ5 LHX4 AAAS MTHFR IGF2 CDKN1B USP8 DNMT3A PTEN SUFU PEX19 CDKN2A GK ADH5 TNXB CLCNKA MDM2 NR3C2 CHD7 SLC12A3 OCRL NNT PEX13 MDH2 QRSL1 ABCD1 ENPP1 CYP11A1 POLR1D PDE8B SCNN1A SCN4A MRPS7 BSND SMARCB1 PDE11A YY1 TXNRD2 ZFPM2 NSDHL PEX2 IDH1 CTNNB1 BTNL2 SAMD9 WNK4 SIX3 NF2 SMARCE1 POLR1B TBX19 PRKACA KIF1B CCDC22 SNORD116-1 CACNA1S WASHC5 HYLS1 SMO TBC1D24 ABCC6 HSD17B4 NDUFAF5 TRAPPC11 NKX2-6 TERT KCNQ1 GATB TBCK PROP1 NR0B1 SOX9 PWRN1 NR3C1 MRPS25 WNT3 GATC NFS1 MKRN3 KCNJ16 PWAR1 EPAS1 SDHA FH POLR1C CDKN2C PLXND1 POR MAP3K1 KCNE3 LMNA CDKN1A NPAP1 DHX37 SLC25A11 PCSK1 CDON SDHAF2 IDH2 TCTN3 HTR1A GMPPA SNORD115-1 CILK1 NF1 HP_ADRENAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENAL_HYPOPLASIA TBX19 GLI3 CYP11A1 POLE MKS1 POMC LHX4 CDKN1C LMNA MTHFR GPR161 VANGL2 BMP4 SIX3 PEX1 TBC1D7 CDON WDR11 NR0B1 ZMPSTE24 CCDC22 ADH5 TNXB HESX1 WASHC5 PROKR2 ROBO1 CILK1 NSDHL HP_HYPERTHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTHYROIDISM TBX1 SEC24C GABRA3 GNAS CACNA1S THRB TWNK MSTO1 TSHR CLCNKB ARVCF COMT POLR3A BTNL2 KCNJ18 JMJD1C POLG PTEN UFD1 TBCK POLG2 RRM2B CDH23 RREB1 SUGCT SLC25A4 PIK3CA FOXP3 SLC12A3 HIRA AKT1 GP1BB HLA-DRB1 FMR1 HP_INCREASED_CIRCULATING_GONADOTROPIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_GONADOTROPIN_LEVEL GDF9 FIGLA GATA4 NR5A1 NSMCE2 FSHR FOXL2 LARS2 FANCM CYP11A1 NANOS1 XRCC2 SRY CBX2 AR MEIOB TEX15 BNC1 FMR1 ZMYND15 TAF4B CNBP DHH CFTR ERCC6 KISS1R MCM8 HSD17B4 NUP107 CDH23 CYB5A SOX9 POLR3H C14orf39 WT1 HFM1 SPIDR ESR2 ZFPM2 WWOX BMP15 CYP17A1 SYCE1 TEX14 FGD1 MRPS22 DHX37 POR MAP3K1 NR0B1 POLA1 ESR1 CFAP47 TEX11 TDRD9 KLHL10 PPP2R3C SYCP3 SOHLH1 VAMP7 DMRT3 LHCGR STAG3 PSMC3IP HP_PITUITARY_DWARFISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PITUITARY_DWARFISM OTX2 POU1F1 LHX4 SOX3 LHX3 PROP1 HESX1 FOXA2 GH1 GLI2 HP_HYPERACTIVE_RENIN_ANGIOTENSIN_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERACTIVE_RENIN_ANGIOTENSIN_SYSTEM SLC12A1 SCNN1B SCNN1A CLCNKB CLCNKA BSND KCNJ1 SCNN1G NR3C2 SLC26A3 HP_HYPERPARATHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPARATHYROIDISM GCM2 CDC73 CYP2R1 GNAS MEN1 CDKN2C CASR VDR SLC12A1 ACTG2 SLC26A4 CDKN1A CYP27B1 CDKN1B FOXI1 RET CDKN2B DMPK YY1 KCNJ10 PLEKHM1 OCRL AP2S1 CLDN10 GNA11 HP_ELEVATED_CIRCULATING_GROWTH_HORMONE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_CIRCULATING_GROWTH_HORMONE_CONCENTRATION PMM2 GNAS HPGD CDKN2C MEN1 PRKAR1A GPR101 SLCO2A1 AIP CDKN1A CDKN1B CDKN2B CDH23 HP_ADRENAL_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENAL_INSUFFICIENCY QRSL1 ABCD1 GATA4 PEX1 PEX6 CYP11A1 HBB IARS2 PEX12 HERC2 PEX11B NFKB2 RBM28 MRPS7 PEX16 PEX10 SMARCB1 CYP11B2 TXNRD2 PEX26 MAGEL2 PEX3 NR5A1 HSD11B2 SCNN1B CYP11B1 STEAP3 ZFPM2 AKT1 BCOR GLI3 PEX2 BAP1 AAAS CTNNB1 SGPL1 PEX19 KANSL1 SNRPN POMC SAMD9 AIP PEX5 PIK3CA NF2 SMARCE1 TBX19 WT1 SRY LIPA VAMP7 SNORD116-1 DMRT3 MCM4 BRAF SMO PDGFB HSD17B4 PEX14 NDUFAF5 TRAPPC11 TERT MEN1 LHX4 GATB NDN TBCK SAA1 CDH23 PROP1 NR0B1 SOX9 PWRN1 MC2R NR3C1 STAR MRPS25 PEX13 GATC NFS1 WWOX MKRN3 PWAR1 TRAF7 CYP17A1 OCA2 MRAP POR MAP3K1 AIRE NPAP1 DHX37 PCSK1 SUFU HSD3B2 GK TCTN3 NR3C2 NNT GMPPA SNORD115-1 HP_ABNORMALITY_OF_RENIN_ANGIOTENSIN_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_RENIN_ANGIOTENSIN_SYSTEM CYP11A1 HSD11B2 KCNJ1 SLC12A1 CLCN2 CYP11B1 SCNN1G AVPR2 CDKN2B SLC12A3 SCNN1A CDKN1B CYP11B2 CLCNKB SLC26A3 SCNN1B KCNJ16 BSND CACNA1D CYP17A1 CDKN2C CASR INSR MEN1 CDKN1A HSD3B2 KCNJ5 KCNJ10 CLCNKA NR3C2 MAGED2 HP_INCREASED_CIRCULATING_RENIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_RENIN_LEVEL CYP11B2 CYP11A1 HSD3B2 KCNJ10 SLC12A3 CLCNKB CLCNKA SCNN1A KCNJ1 NR3C2 CASR INSR SLC12A1 MAGED2 KCNJ16 SCNN1G BSND SCNN1B HP_ADRENOCORTICAL_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENOCORTICAL_ABNORMALITY ABCD1 GK PRKAR1A PRKACA CDKN1B CDKN2C PDE8B NKX2-6 PDE11A PLXND1 MEN1 CDKN1A CDKN2B HP_CONGENITAL_HYPOTHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_HYPOTHYROIDISM NKX2-1 TBC1D24 KDM6A PAX8 PDE4D IYD MRAP NKX2-5 PRKAR1A TG TSHB SLC5A5 GATA6 KMT2D ZBTB20 B3GLCT PLAA TPO TSHR FOXE1 DUOX2 DUOXA2 MC2R STAR NNT GLIS3 TRAPPC9 THRA ATP6V1B2 TONSL ADAMTSL1 TXNRD2 HP_PSEUDOHYPOPARATHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSEUDOHYPOPARATHYROIDISM GNAS PDE4D PRMT7 STX16 GNAS-AS1 PRKAR1A HP_GOITER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GOITER PIK3CA DUOXA2 SIX1 SDHC PAX8 KEAP1 SDHB IYD SLC26A4 TSHR DNAH1 NKX2-1 ALMS1 DICER1 PTEN SLC5A5 KCNJ18 THRB FOXI1 POLG DUOX2 SEC23B CDKN2B CDH23 CDKN1B KCNJ10 GNAS TPO AKT1 FOXE1 TG SASH1 TWNK CDKN2C IDH1 RCBTB1 MEN1 CDKN1A TSHB POLG2 RRM2B EYA1 SUGCT CACNA1S IDH2 MINPP1 SLC25A4 RET USF3 SDHD HABP2 MMP2 KLLN MMP14 HP_THYROID_ADENOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THYROID_ADENOMA PRKCD MSH3 PRKAR1A FAS PIK3CA CDC73 CASP10 AKT1 MEN1 RASGRP1 CDKN1B FASLG PTEN HP_INSULIN_RESISTANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INSULIN_RESISTANCE PLIN1 PPARG AKT2 CLCNKB NEUROD1 EIF2AK3 LMNA LMNB2 NSMCE2 GATA6 IRS2 WRN GCK ARL6 ZMPSTE24 BSCL2 DBH DMPK ZFP57 FOS IGF2BP2 HYMAI KCNJ11 IGFALS INSR LIPE LEP POLD1 LEPR CAVIN1 CNOT1 PTF1A CEL AGPAT2 PAX4 HNF1A HNF4A CCDC28B MFN2 PDX1 ABCC8 STAT3 MTX2 DCAF17 PLAGL1 CYP19A1 GPD2 CEP19 INS PMM2 PIK3R1 CAV1 IL6 KLF11 ALMS1 BLK APPL1 IRS1 RETN LIPC BBS1 XRCC4 ENPP1 TCF7L2 WFS1 IGF1 ADCY3 HNF1B SLC2A2 BLM MAPK8IP1 PTPN1 PPP1R3A HSD11B1 HMGA1 MTNR1B CIDEC SLC12A3 SLC30A8 LEMD2 HP_NEONATAL_INSULIN_DEPENDENT_DIABETES_MELLITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_INSULIN_DEPENDENT_DIABETES_MELLITUS CNOT1 PTF1A CEL KLF11 NEUROD1 HYMAI ABCC8 BLK EIF2AK3 HNF4A APPL1 PLAGL1 GATA6 GCK KCNJ11 PDX1 ZFP57 STAT3 PAX4 INS HNF1A HP_IRREGULAR_MENSTRUATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRREGULAR_MENSTRUATION CYP17A1 PPARG LMNA FOXL2 HMGA2 PHKG2 ALMS1 MEN1 PRKAR1A NR3C1 AIP FMR1 CDKN1C PLAG1 C14orf39 ERAL1 PDE4D CDH23 PHKA2 CYB5A GPR101 ERCC8 BBS9 SLC37A4 ANTXR1 GNAS SETD2 CYP11B1 HSF2BP PSMB8 IGF2 HP_HYPERALDOSTERONISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERALDOSTERONISM CACNA1D CLCNKB KCNJ2 KCNJ1 INSR KCNJ5 SLC12A1 CLCN2 CYP11B1 SCNN1G SCNN1B KCNJ10 SCNN1A CYP11A1 BSND TP53 CLCNKA CYP11B2 NR3C2 SLC26A3 SLC12A3 OCRL KCNJ16 HP_CENTRAL_DIABETES_INSIPIDUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_DIABETES_INSIPIDUS NODAL PTCH1 GAS1 SHH SIX3 TP63 FOXH1 CTNNB1 FGF8 DLL1 CDON AVP WFS1 ZIC2 DISP1 TGIF1 GLI2 BRAF TDGF1 HP_ABNORMALITY_OF_THE_HYPOTHALAMUS_PITUITARY_AXIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_HYPOTHALAMUS_PITUITARY_AXIS SIX3 HBB IARS2 ALX3 ARNT2 HLA-DPA1 HERC2 SEMA3A FMR1 EIF2S3 PTCH1 FGFR1 CDKN2B SOX3 HESX1 GNAS GPR101 TP53 ANOS1 C14orf39 DLL1 TDGF1 FGF8 NR5A1 GLI2 STEAP3 ROBO1 CEP41 ZIC2 PIK3CA TGFBR2 MSTO1 RPGRIP1L PMS2 STX16 PRKAR1A TP63 POMC AIP FLNB IRS4 SIN3A KIAA0753 TSHB ARL13B MLH3 POU1F1 SLC16A2 RBM28 TMEM237 DNAJB11 DCAF17 MSH2 FOXH1 INPP5E DMRT3 RFWD3 MCM4 ZNF423 CBY1 ARL3 ERCC4 FIGLA NKX2-1 TCTN1 PDGFB KATNIP TACR3 PROKR2 CCDC141 NANOS1 CDON BNC1 SLC35A2 BAP1 FANCM SEMA4A TSC1 NDN SHH WDR4 ERCC6 CDH23 LHX3 TSC2 MADD ALMS1 ZSWIM6 HFM1 SRD5A3 WWOX PRLR FOXL2 DHX37 FOXA2 POLE CEP120 FSHR NODAL TGIF1 MT-TL1 LHX4 NFKB2 TMEM67 CDKN1B DISP1 PROK2 SNRPN KLHL10 SYCP3 CHD7 WFS1 PSMC3IP ADNP BRCC3 PAX8 CYP11A1 IYD FANCI KIAA0586 AHI1 TMEM138 GMNN SLC5A5 COG2 TRH BRCA2 DYRK1A RNF216 TSHR KISS1R TCTN2 DMPK MCM8 HSD17B4 GHRHR YY1 MAGEL2 TBCE ZFPM2 VPS13B OTX2 GLI3 FLRT3 SRPX2 PROP1 IDH1 CTNNB1 FANCA SOX2 AFF4 MEN1 ESR1 STIL TDRD9 SRP54 CEP290 BTK SOHLH1 KANSL1 PIBF1 SNORD116-1 CPE PSMB8 SMO GDF9 PMM2 CC2D2A TBX19 APC FANCB TRAPPC11 B9D1 AR MKS1 TAF4B RRM2B POLR3GL TBCK SOX9 PWRN1 WT1 PUF60 MTHFR FAN1 SPIDR SLC29A3 MKRN3 ALG9 PWAR1 ADAT3 CYP17A1 FANCF ESCO2 SUFU CSPP1 SYCE1 PNPLA6 GHSR HPGD CDKN2C MAP3K1 NR0B1 CDKN1A SRY FEZF1 TPO TEX11 CEP57 BRCA1 CTLA4 SPRY4 LEPR RAD51C SIM1 GATA4 DMXL2 THOC2 BMPR1A GAS1 MLH1 HS6ST1 SLCO2A1 ARMC9 DHH CFTR KRAS KMT2A RNPC3 NUP107 TBX3 GRM7 HYLS1 STAT5B LEP GAN AKT1 TEX14 FGD1 TMEM216 SLX4 BMP4 FSHB POLA1 GPR161 PITX2 WDR11 RRAS2 SBDS VANGL2 CEP104 GANAB VAMP7 SOX10 SEMA3E APOA5 BRAF ZNF148 NSMCE2 USP8 ERF DUSP6 LARS2 XRCC2 TBX2 STAG2 ACP5 CBX2 MEIOB EDA FARSA ZMYND15 FGF17 TMCO1 RPS20 DUOX2 CYB5A MARS2 NONO TRAF7 OCA2 DNAJC21 HLA-DPB1 FANCC MRPS22 ANK1 SLC7A7 UBE2T B3GLCT EFL1 IGF2 HSD3B2 RAD51 PDE4D STAG3 GH1 MAD2L2 PRTN3 SMC1A GATA6 SMARCAL1 CNBP FOXC1 FANCE PKD1 ABCD1 SMARCB1 POLR3H IL17RD DCC MSH6 ADGRG1 THRB AAAS TG NF2 SMARCE1 MT-ATP8 CPLANE1 FANCL PREPL EPCAM SECISBP2 WASHC5 SIX6 TERT NDNF POLR3A PKD2 TEX15 BICC1 AVP PMS1 PI4KA DUOXA2 MED12 ESR2 BMP15 PTPN22 TRHR IGSF1 POU3F4 POR TMEM231 NPAP1 FANCG CFAP47 NDE1 EDA2R IDH2 NPHP1 PPP2R3C CDKN1C BRIP1 FANCD2 PDGFRB LHCGR GMPPA TBL1X SNORD115-1 PALB2 PCSK1 HP_DECREASED_FERTILITY_IN_FEMALES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_FERTILITY_IN_FEMALES SPEF2 FIGLA GATA4 FOXL2 TUBB8 DNAI2 CCDC39 C11orf80 CFAP221 DNAH1 MEN1 ODAD2 RSPH4A DNAAF6 ZP2 DNAAF2 BTG4 ODAD3 PGR CDH23 DNAH9 PATL2 RSPH9 CYB5A SOX9 MCIDAS DNAH11 DNAAF3 NR5A1 CCDC40 CCDC103 HSF2BP ZFPM2 WWOX DNAAF4 TTC12 DNAAF1 GAS8 DNAJB13 CFAP300 AGPAT2 MAP3K1 RSPH1 DNAAF5 NR0B1 CCNO TLE6 DRC1 CCDC65 AIP FOXJ1 DHX37 OFD1 SPAG1 GALT TRIP13 ZMYND10 PANX1 DNAI1 WT1 CYP19A1 NME8 NEK10 ODAD1 WEE2 SRY DNAH5 ODAD4 RPGR BSCL2 VAMP7 DMRT3 BLM RSPH3 CYP17A1 REC114 DNAAF11 CFAP298 LRRC56 HYDIN DNAL1 STK36 GAS2L2 HP_SECONDARY_AMENORRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SECONDARY_AMENORRHEA GNRH1 PPARG FIGLA NR5A1 LMNA FSHR CHD7 LARS2 BMP15 NOBOX LHB TACR3 WRN HS6ST1 HAMP ERAL1 ERCC6 KISS1 NUP107 POLG POLR3H GNRHR HSF2BP EIF2B4 SPIDR DUSP6 PROKR2 PROK2 SPRY4 TKT EIF2B2 DIAPH2 FGF17 MRPS22 FOXL2 EIF2B1 RCBTB1 BNC1 FGF8 BPTF C14orf39 GALT KISS1R WDR11 FGFR1 EIF2B5 PSMD12 EIF2B3 TAC3 TBL1X NSMF PSMC3IP PAPSS2 HP_INCREASED_CIRCULATING_PROLACTIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_PROLACTIN_CONCENTRATION TRAF7 TRHR PMM2 PDGFB GNAS BAP1 MSTO1 MEN1 PRLR TERT GPR101 CTNNB1 POLR3A AIP PIK3CA NF2 TSHB SMARCE1 SUFU CDH23 SMARCB1 BRAF SMO AKT1 HP_PANHYPOPITUITARISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANHYPOPITUITARISM DLL1 SHH FOXH1 SIX3 TDGF1 STAG2 CDON SMC1A PTCH1 FGFR1 ZIC2 GLI2 STIL GAS1 GRM7 FGF8 NODAL GLI3 LHX4 DISP1 SOX3 POU1F1 TGIF1 KATNIP PROP1 LHX3 MADD HESX1 SUFU HP_HASHIMOTO_THYROIDITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HASHIMOTO_THYROIDITIS DCLRE1C FOXD3 TBX2 TTC7A IL18BP CLCNKB SLC12A3 CTLA4 C1S POLG PLCG2 SEC23B CDKN1B ADA2 ITCH PTEN HP_DIABETES_INSIPIDUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIABETES_INSIPIDUS DLL1 SHH FOXH1 VPS33B GAS1 PRTN3 SIX3 ALX3 ARNT2 VIPAS39 TDGF1 STAG2 HLA-DPA1 CDON SMC1A PTCH1 PTPN22 FGFR1 TGIF1 ARL6 PRPS1 ZIC2 GLI2 STIL HESX1 FGF8 NODAL AVPR2 ROBO1 STRADA AQP2 WFS1 P4HA2 DISP1 CTNNB1 BTNL2 SOX2 GPR161 CCDC28B WDR11 HLA-B CISD2 PROKR2 BRAF GLA AKT1 OTX2 ALMS1 AVP HLA-DRB1 PTEN BBS1 HLA-DPB1 TP63 LHX4 SOX3 CTLA4 OCRL CNOT1 TREX1 HP_EPISODIC_HYPERTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISODIC_HYPERTENSION RET SDHB VHL KIF1B MAX TMEM127 SDHD HP_OLIGOMENORRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIGOMENORRHEA PLIN1 PPARG AGPAT2 PHKG2 USP8 LARS2 RNF216 PRLR FOXL2 LHB FANCM AIP HERC2 FSHB NPAP1 AKT2 MSH5 NDN GALT ERCC6 FOS PHKA2 GNAS H6PD SNRPN PWRN1 NR3C1 CIDEC MAGEL2 SNORD116-1 LIPE CAV1 STUB1 SNORD115-1 MKRN3 BSCL2 PWAR1 CISD2 CAVIN1 HP_11_PAIRS_OF_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_11_PAIRS_OF_RIBS ATR TBC1D24 LBR RPS19 SOX2 GPX4 KCNAB2 B3GAT3 SPEN CHST3 BMP2 RERE PRKCZ TOR1A HSPG2 HDAC6 CENPJ NFASC B3GALT6 SNRPB FLNB CEP152 UBE4B RNU4ATAC TBCK RRAS2 SRCAP CASZ1 SCUBE3 DNMT3A PRDM16 MMP23B SOX9 GABRD PDPN SKI LUZP1 ATP6V1B2 HP_SHORT_STERNUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_STERNUM RBM10 PCGF2 TMEM231 NFIX NOG ARID1B BUB1B NIPBL SETBP1 HP_THIN_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIN_RIBS TENT5A MUSK KDELR2 LIFR COL11A1 OBSL1 COL1A2 RYR1 POLR3A DNM2 ORC1 BIN1 MTM1 TRPV6 SERPINH1 SOX9 PPP3CA EXOC6B ZMPSTE24 CHRND HDAC6 SKI P3H1 WNT1 NEB RTTN CHRNA1 MBTPS2 TBCE CCDC8 SEC24D LMNA COL1A1 KLHL40 LMOD3 CUL7 ACTA1 AIFM1 COL2A1 FAM111A MYF6 PLOD1 CHRNG MAMLD1 MTMR14 SCARF2 MTX2 KLHL41 HP_PROMINENT_STERNUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_STERNUM DYM MEG3 GLB1 RTL1 AIFM1 GALNS ZFPM2 BMP2 ARSB DLK1 GATA6 WNT7A HP_BROAD_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_RIBS AMER1 XYLT1 SETBP1 NEK9 DYM FBN1 PTH1R COL11A2 IL1RN ABCC9 ATP7A ADAMTS10 SOST KCNJ8 SMAD4 GNPTAB SERPINH1 ARSB PTDSS1 COMP COL11A1 GLB1 WNT7A HP_DEFORMED_RIB_CAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEFORMED_RIB_CAGE SBDS CYP2R1 SLC34A3 SRP54 CYP27B1 EFL1 DNAJC21 VDR HP_CUPPED_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUPPED_RIBS MMP13 GPX4 DDR2 COL2A1 SRP54 CFAP410 AIFM1 COL11A1 SLC35D1 BGN SBDS MEG3 ADA INPPL1 IHH B3GALT6 DLK1 MATN3 COL10A1 PCYT1A DNAJC21 RTL1 UBA1 HP_HORIZONTAL_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HORIZONTAL_RIBS CUL7 WDR35 DYNC2H1 CCDC8 NEK1 DYNC2LI1 OBSL1 CEP120 EVC IFT81 EVC2 COL2A1 INTU DYNC2I2 HP_ABNORMAL_CLAVICLE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CLAVICLE_MORPHOLOGY CEP120 ATP7A DYNC2LI1 SALL4 KIAA0586 SLC35D1 BCOR FGFR2 TBX5 PAX1 FIG4 LMNA HPGD INPPL1 ORC1 RTL1 ZMPSTE24 WDR19 TBX3 ORC4 IFT80 EFNB1 EYA1 RUNX2 NSDHL XYLT1 FBXL3 CDT1 BANF1 TNFRSF11B IFT172 TBCE TTC21B NEK1 PORCN IDUA SOST MTX2 ALX4 BGN SETBP1 MSX2 HHAT PIGL SCARF2 GJA1 FLNA CDC45 MMP14 RSPO2 FGFR1 LRP5 PTDSS1 MYSM1 COL11A1 TBX15 CDC6 TWIST1 DYNC2H1 RNU4ATAC DYNC2I2 FAT4 AMER1 PCNT NAA10 VAC14 B4GALT7 MEG3 DYNC2I1 CSPP1 SH3PXD2B FKBP10 INTU BMPR1A GLI3 SKI LBR DCHS1 HOXD13 CTSK CHRNG TRIP11 CHD4 GMNN DYNLT2B FGFR3 FLNB KIF7 SRCAP SLC26A2 ORC6 TNFRSF11A ANTXR1 RBM8A PTEN IFT140 MMP2 DLK1 IFT81 PTH1R WNT7A LEMD2 HP_LONG_CLAVICLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_CLAVICLES LBR PCNT KIAA0586 COL11A1 TBCE CHRNG TBX15 MEG3 SETBP1 CSPP1 HPGD DLK1 FLNB RTL1 RNU4ATAC HP_CERVICAL_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CERVICAL_RIBS ANKRD11 AFF3 GATA6 RUNX2 SON IFT57 GPC3 PUF60 RBM8A GPC4 HP_BIFID_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIFID_RIBS PTCH2 CASZ1 PRDM16 KCNAB2 SPEN MMP23B TMCO1 SUFU RERE PRKCZ HSPG2 GABRD PDPN PTCH1 UBE4B SKI LUZP1 HP_SHORT_CLAVICLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_CLAVICLES ZMPSTE24 RSPO2 XYLT1 FBXL3 LMNA DCHS1 HOXD13 ATP7A FGFR2 FLNA TRIP11 TBX5 TWIST1 CHD4 FIG4 IDUA BCOR PORCN FAT4 SRCAP MTX2 ALX4 TBX3 NAA10 BGN RUNX2 B4GALT7 MSX2 DYNC2LI1 PTEN SALL4 NSDHL BMPR1A LEMD2 HP_LATERAL_CLAVICLE_HOOK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LATERAL_CLAVICLE_HOOK SKI SLC35D1 CDT1 IFT172 DYNC2H1 NEK1 RBM8A DYNC2I1 SCARF2 DYNLT2B IFT81 INPPL1 ORC1 INTU DYNC2I2 HP_RACHITIC_ROSARY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RACHITIC_ROSARY CYP2R1 CYP27B1 CTNS PHEX ALPL SLC34A3 HP_THICKENED_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICKENED_RIBS NAGLU SOST IDS SGSH HGSNAT MAN2B1 GNS GLB1 HP_RIB_FUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIB_FUSION NSD2 CTBP1 ODC1 DLL3 LFNG COG1 RERE PRKCZ RIPPLY2 HSPG2 SPEN SON TMCO1 ROR2 CASZ1 PRDM16 MESP2 CPLX1 MMP23B CHRNG LETM1 FOXF1 ACTB TBX6 FGFRL1 SH2B1 LUZP1 GLI3 ANKRD11 KCNAB2 NELFA SOX2 UBE4B MYH3 HES7 NXN RECQL4 GABRD PDPN PIGG MAP3K7 SKI SIX6 HP_FLARING_OF_RIB_CAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLARING_OF_RIB_CAGE GLB1 B3GALT6 DYM IL1RN GALNS RMRP HP_ANTERIOR_RIB_CUPPING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTERIOR_RIB_CUPPING DDR2 COL2A1 SRP54 CFAP410 AIFM1 COL11A1 SLC35D1 SBDS MEG3 ADA INPPL1 DLK1 COL10A1 DNAJC21 RTL1 HP_SPRENGEL_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPRENGEL_ANOMALY PTCH2 RPS28 RPL11 RPS15A TBX2 RPL27 ADA2 MEOX1 SUFU MAP3K7 RPL18 TBX3 BRAF GDF6 RPS20 HSPG2 RPL5 RPL31 GDF3 FHL1 EFNB1 RAF1 RPL35 SYNE1 WBP11 LMNA RPL35A SEPTIN9 RPS29 FLNA RPS10 GATA1 SYNE2 RPS26 RPL26 COL3A1 RPL15 TSR2 RPS19 TMEM43 TBX5 CDH2 RPS7 PAX3 TMCO1 RPS17 RPS27 RPS24 PTCH1 SF3B4 EMD PTPN11 NPR2 HP_SHIELD_CHEST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHIELD_CHEST SRCAP BRAF WNT4 FUCA1 XYLT2 TRPV4 POP1 LZTR1 MAP2K1 TRAPPC2 PTPN11 CHST3 DYM CILK1 KRAS HP_PECTUS_EXCAVATUM_OF_INFERIOR_STERNUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PECTUS_EXCAVATUM_OF_INFERIOR_STERNUM PTPN11 SOS1 MAP2K1 BRAF NF1 HP_BROAD_CLAVICLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_CLAVICLES TRIP11 PTDSS1 MYSM1 SH3PXD2B MMP2 ATP7A PTH1R SOST WNT7A MMP14 HP_ABNORMALITY_OF_THE_COSTOCHONDRAL_JUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_COSTOCHONDRAL_JUNCTION FGFR3 CYP2R1 NOG DDR2 CTNS SRP54 VDR SBDS MEG3 ALPL SLC34A3 CYP27B1 DYM DLK1 PHEX ARSL DNAJC21 RTL1 HP_ENLARGEMENT_OF_THE_COSTOCHONDRAL_JUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGEMENT_OF_THE_COSTOCHONDRAL_JUNCTION CYP2R1 NOG SLC34A3 CYP27B1 DYM PHEX SRP54 DNAJC21 SBDS HP_MISSING_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MISSING_RIBS ATR TBC1D24 SOX2 GPX4 B3GAT3 BMP2 FBN1 RERE PRKCZ HSPG2 SPEN BMPER CEP152 RNU4ATAC TBCK ROR2 CASZ1 SCUBE3 PRDM16 MMP23B RSPO2 MYF5 SOX9 FLI1 TBX6 LUZP1 SKI LBR RPS19 KCNAB2 CHST3 TOR1A HDAC6 CENPJ NFASC FUZ B3GALT6 SNRPB FLNB UBE4B HES7 RRAS2 SRCAP DNMT3A CCDC22 WNT3 WASHC5 VANGL1 PTPN11 GABRD PDPN IFT43 ATP6V1B2 SIX6 HP_POSTERIOR_RIB_CUPPING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_RIB_CUPPING INPPL1 DDR2 MATN3 COL11A1 BGN HP_BEADED_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BEADED_RIBS TRIP11 TAPT1 CREB3L1 PHEX COL1A1 COL1A2 PPIB HP_PLATYSPONDYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PLATYSPONDYLY DYM ATP7A COL11A1 B3GALT6 DHX37 B3GAT3 KCNJ8 SMAD4 CCN6 TRAPPC2 COL2A1 COG4 TRIP11 SMARCAL1 SLC25A24 IDH1 DDRGK1 FUCA1 GORAB SERPINH1 RSPRY1 KIF22 MBTPS2 TCIRG1 MRPS28 EXOC6B EIF2AK3 CSF1R IFITM5 BMP1 GPX4 GLB1 SGMS2 FKBP10 ACAN TNFRSF11A RAB33B MMP13 EXTL3 GALNS MAN2B1 XYLT2 CHST3 ABCC9 TRPV4 NEK1 NEPRO AGA PYCR1 FGFR3 COL11A2 PCYT1A OCRL COL9A2 SLC26A2 COL10A1 CANT1 COL1A1 AIFM1 BGN PLOD1 SFRP4 SLC39A13 MATN3 XYLT1 COMP RPL13 PTH1R LTBP3 COL9A1 MIR140 PMM2 RNU4ATAC MIA3 COL1A2 GUSB ACP5 HSPG2 KDELR2 LOXL3 PLCB3 RINT1 DDR2 FGFR1 IDH2 NANS TAPT1 LBR TONSL SPARC HDAC6 P3H1 WNT1 RUNX2 FLNB PLOD2 UFSP2 PAM16 SEC24D RMRP PLOD3 CFAP410 FN1 COL9A3 PPIB FLNA SLC29A3 ADA LRP5 INPPL1 IFT43 ALPL LFNG PAPSS2 HP_ABNORMALITY_OF_SKELETAL_MATURATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SKELETAL_MATURATION GNRH1 ATR A2ML1 TRPS1 GTF2I SLC35D1 HDAC8 KCNJ8 ITGB6 SEMA3A GJB6 RBBP8 KISS1 FOS SOX3 ANOS1 OBSL1 MBTPS2 NR5A1 GPX4 RPS6KA3 DPP6 CAVIN1 MRPS22 BRAF NPR2 AGPAT2 CTNS CBL MSTO1 GHR PRKAR1A AGA ZEB2 GJB2 SOS2 AIP FAM111A TSHB NIN WDR11 CENPE FGF8 RBM28 DCAF17 EZH2 AIFM1 ASXL2 CSGALNACT1 TBL2 GPC4 SHANK3 SOS1 DMRT3 ALDH18A1 NSD1 LTBP3 NGLY1 RNU4ATAC TACR3 CCDC141 NRAS CTBP1 HSPG2 IGF2 WDR4 NFIX DVL1 ARCN1 RSPRY1 MADD PPP1CB ALMS1 ZNF699 GPC3 AHSG CDT1 ERCC2 FGFRL1 WWOX PROK2 EXT1 CPLX1 SLC7A7 NCF1 FGF17 HUWE1 POP1 ERCC4 GPR101 FOXA2 INSR SMARCC2 KIF15 MT-TL1 DNAJC30 GMNN TP53 PIK3C2A GDF5 FBN1 RRAS2 SRCAP HESX1 KCNJ2 ANTXR1 BCL7B GTF2H5 PPARG MC2R ARID1A PSMC3IP RAD21 RECQL4 FSHR PAX8 PTPN11 ARID2 PDE4D PPP1R21 CYP11A1 B3GAT3 ANAPC1 COL2A1 SLC26A2 ATRX TRH CEP152 ORC1 ERCC5 MPLKIP PTCH1 GHRHR ORC4 SIN3B IGFALS UBR1 ELN SLC29A3 ARID1B CHP1 EYA1 TBCE ZFPM2 NIPBL GLI1 CUL7 EIF4H SPRY4 ZBTB16 MMP13 FLRT3 PROP1 GHSR ABCC9 NSUN2 CDKN1C RRAS SMARCA2 RNF13 SETD2 H19 ESR1 MCM9 FGFR1 BRD4 TARS1 BUD23 SRP54 TAF13 HRAS BTK PLK4 CLDN3 DNAJC21 NSMF BSCL2 IGF1 PTDSS1 LHX4 FSHB IGF1R TAB2 KCNQ1 EVC2 CREBBP RRM2B GTF2E2 TBCK KMT2A SMARCA4 SOX9 SMPD1 B4GALT7 POU1F1 SPIDR DUSP6 ACAN EXTL3 QRICH1 LSS CYP17A1 CANT1 LETM1 MAP3K1 PAM16 TSHR NR0B1 SRY FEZF1 CEP57 EP300 TMEM270 TAC3 SMARCB1 TRHR SOX11 NMNAT1 NSD2 GATA4 LONP1 RIT1 HS6ST1 BMP2 GTF2IRD1 KRAS INPPL1 PEX1 DYNC2LI1 SLC25A24 GLI3 RAF1 ROR2 RNPC3 NUP107 ATRIP SBDS LEP CYP11B1 KCNQ1OT1 LEPR PROKR2 ITCH ANKRD11 CHST3 NELFA POLA1 MKRN3 GBA APC2 RNF135 CHD7 DPF2 WT1 PTH1R KISS1R EED TMEM67 RNF113A METTL27 VAMP7 SOX10 CDC6 CYP19A1 MAP3K7 TRPV4 KARS1 FARSB PPP1R15B GH1 SPRTN POMC TRAIP PCNT SLC10A7 MVK CYB5A ERCC3 XPA GNAS SUZ12 DONSON GJA1 LPIN2 SIN3A PEX6 RFC2 WNT5A SOHLH1 XPC EFL1 DDOST PTEN DDB2 HSD11B1 ALG9 SMARCD1 FMR1 TET3 MALT1 SCARB2 ORC6 DDX6 PIGG SOX4 IHH MEN1 PAX1 SHOC2 CLIP2 EVC RMRP ABHD11 PCGF2 POLR3H IL17RD CKAP2L PIGT GNRHR SMARCE1 DCC COX4I2 THRA LHCGR CCBE1 XYLT1 LAT2 CENPT STX1A CCDC8 STAT5B BNC1 MSMO1 MT-ATP8 ANKRD17 STAT1 LIMK1 NBAS SECISBP2 CDC45 BAZ1B HSD17B4 NR2F1 NDNF GLI2 HMGA2 LIG4 MRAS OTX2 ENPP1 H1-4 PIK3R1 SMC3 LZTR1 IFT57 CENPJ NEU1 SMC1A GTF2IRD2 CAV1 BMP15 CD96 POU3F4 FKBP6 POR CLDN4 FLNB RASA2 VPS37D BRF1 DHX37 MLXIPL MECP2 COX4I1 PPP2R3C PDGFRB TONSL PCSK1 HP_CHONDROCALCINOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHONDROCALCINOSIS HYAL1 CDC73 MEN1 FXYD2 KCNJ1 CLCNKB SLC12A1 ATP7B LMNA WRN ALPL PDGFRB MEFV ANKH GCM2 NOTCH3 SLC12A3 ATP7A AP2S1 TNFRSF1A TNFRSF11B GNA11 HP_THICKENED_CORTEX_OF_LONG_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICKENED_CORTEX_OF_LONG_BONES NF1 FAM111A LRP5 COL1A1 LIFR MAN2B1 SOST TRIM37 SETBP1 TGFB1 TBCE ANO5 HP_OSTEOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOPENIA GCM2 GNRH1 ATP7A TENT5A SIM1 TRPS1 COL1A1 GTF2I B3GALT6 NRAS IARS2 GFI1 KCNJ1 UROS FBN1 STX3 SLC12A1 HERC2 GTF2IRD1 KNSTRN HPGD HS6ST1 KISS1 NUP107 SOX3 TRPV6 SERPINH1 GEMIN4 CRIPT STN1 IFITM5 SGMS2 ANTXR2 PROKR2 IER3IP1 BRAF P4HB MAN2B1 ATP6V0A2 CHST3 SNRPN GPR35 AIP GORAB MGAT2 WDR11 ADAMTSL2 SBDS PSAT1 B4GALT7 DCAF17 XYLT2 GNPAT KISS1R EED TMEM67 RNF113A METTL27 FGF17 TBL2 MAFB PYCR1 CRTAP LIFR NF1 ATP8B1 FARSB MEN1 CHD7 CREB3L1 IRX5 HECW2 SRP54 MAGEL2 MIA3 TCF4 COG1 SATB2 TACR3 SLC35A2 SEC23A TREM2 NDN FAT4 CDH23 RSPRY1 PLOD1 GATA1 ERCC3 NAGA ZNF699 GPAA1 PLEKHM1 PRLR CTCF SLC37A4 SLC34A1 MTAP PAPPA2 STAT3 SH3PXD2B ERCC2 GNAS GLIS3 ZMPSTE24 DPM2 PROK2 LRP5 MMP1 AFF3 OCA2 NCF1 PYGL DCHS1 DNAJC21 PLS3 RFC2 MRPS22 FOXA2 POLE TERT SEMA4D CYP3A4 FKBP10 SLC7A7 DNAJC30 TAF1 EFL1 UROD HNRNPK DDOST AEBP1 SLC9A3R1 COL5A2 MMP2 FKBP14 ALG3 HRAS NOTCH2 SCARB2 TCIRG1 BCL7B NR5A1 GTF2H5 CYP27A1 PROP1 PSMC3IP ANO5 CDC73 RECQL4 FSHR KDELR2 B3GAT3 SLC2A2 GBA SMARCD2 CLIP2 SMARCAL1 MPLKIP ABHD11 PIK3CD STAT1 SLC17A5 UNC80 IL1RN POLR3H PDE11A PIGT GNRHR ELN ADAMTS2 SLC10A1 SLC39A8 COX4I2 FUT8 EIF4H ALDH18A1 SPRY4 LAT2 MBTPS2 STX1A RPL11 BNC1 HESX1 FGF8 TMEM38B ESR1 COL5A1 MLXIPL PRKACA CAVIN1 FGFR1 TARS1 BUD23 GZF1 CYP19A1 SNORD116-1 SLC39A13 LIMK1 CLDN3 NSMF FLRT3 KRAS IGF1 MDM4 MMP14 MTX2 PMM2 PIGY BAZ1B LHX4 HSD17B4 FGFR2 NPR2 PIGU POLR3A GNPTAB AVP PHGDH GLI2 CCND1 GTF2E2 HBB OTX2 FBN2 SMPD1 MST1 PWRN1 POU1F1 PTH1R USP9X TAPT1 GTF2IRD2 RNU4ATAC SPIDR DUSP6 MKRN3 PWAR1 BMP15 KL SKI P3H1 LMNA RNF125 FKBP6 MTTP PLOD2 SEC24D CLDN4 COL7A1 NPAP1 PSAP ANAPC1 VPS37D ELANE PRKAR1A IL17RD ADCY10 PLOD3 TMEM270 TAC3 CTC1 PDGFRB SNORD115-1 TONSL HP_OSTEOPOROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOPOROSIS GNRH1 NSD2 ATP7A TENT5A SIM1 GATA4 RPL10 GTF2I B3GALT6 HBB ARMC5 KCNJ8 FAT4 UROS CCN6 TRAPPC2 LRP6 SLCO2A1 HERC2 WRN ATP7B GTF2IRD1 LMNA HPGD TRIP11 HS6ST1 TERT TRMT10A KIT KISS1 NUP107 SOX3 LAMB3 GORAB TERC AKR1D1 NR5A1 CBL NFIX LRP5 WNT1 SGMS2 ANTXR2 PROKR2 FKBP10 LMX1B RAB3GAP1 HFE NHP2 BANF1 GALNS TNFRSF11B SRSF2 XYLT2 CHST3 NELFA SNRPN PYCR1 ZNF469 COL1A1 GPR35 AIP POF1B WDR11 ADAMTSL2 POLG2 SC5D IFT43 PSAT1 WT1 ASXL2 METTL27 SRY FGF17 TBL2 CBS VAMP7 DMRT3 ASXL1 LIFR NF1 GNAS MEN1 CHD7 PHKG2 GLB1 USP8 LARS2 MAGEL2 CTBP1 TCF4 TACR3 ZBTB20 SMS HSPG2 PARN NDN CDH23 CYB5A DKC1 PLOD1 GATA1 NOP10 TNFSF15 GPAA1 PRLR SLC37A4 PROK2 SLC34A1 SH3PXD2B LAMC2 CALCR WWOX ALB WDR19 RUNX2 SLC7A7 MMP1 WNT3A IFT122 OCA2 NCF1 PYGL PLS3 TINF2 RFC2 MRPS22 FOXA2 PCCA FSHR SEMA4D TET2 DNAJC30 UROD NPM1 LAMA3 GALT RRM2B GK SLC9A3R1 MALT1 MMP2 SLC25A4 NOTCH2 TNFRSF11A BCL7B NSMF COL2A1 CYP27A1 PIGG PROP1 PSMC3IP CDC73 KDELR2 HLA-DQB1 IL12A CYP11A1 B3GAT3 NGLY1 ANAPC1 CLIP2 POLG TNPO3 RECQL4 ABHD11 HSD17B4 PHKA2 CPLX1 POLR3H PDE11A GNRHR ELN PEX12 ADAMTS2 EIF2AK3 IFIH1 AEBP1 ZFPM2 POLD1 BMP1 EIF4H SPRY4 LAT2 MBTPS2 STX1A RUNX1 BMP2 SMPD1 RPL11 ABCC9 IL12RB1 BNC1 HESX1 DPAGT1 IFT52 HJV FGF8 DKK1 ESR1 KISS1R MLXIPL PRKACA CAVIN1 FGFR1 CANT1 BUD23 PDLIM4 PDE8B CYP19A1 STAT1 SNORD116-1 CYP17A1 LIMK1 CLDN3 FLRT3 MMP14 MTRR PMM2 PRDM5 BAZ1B LHX4 RIN2 SRC PHGDH MMEL1 PIGT COL1A2 GLI2 SLC25A19 TBCK GCM2 OTX2 RTEL1 SOX9 TMEM165 MST1 PWRN1 IGF1 WRAP53 POU1F1 IRF5 VPS53 USB1 HAMP PCCB SP7 GTF2IRD2 TGFBR2 RNU4ATAC SPIDR ESR2 DUSP6 MKRN3 PWAR1 BMP15 SPARC TWNK SMAD3 HLA-DQA1 PLOD2 FKBP6 LETM1 PRKAR1A MAP3K1 ERCC6 POU2AF1 CTC1 CLDN4 NR0B1 COL7A1 NPAP1 VPS37D DHX37 CTDP1 NDUFAF1 IL17RD ADCY10 G6PC1 ASAH1 TMEM270 SPIB TAC3 WDR35 SNORD115-1 HSD3B7 HP_ABNORMAL_DIAPHYSIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DIAPHYSIS_MORPHOLOGY SHOX ATP7A COL11A1 NF1 GTF2I SLC35D1 B3GALT6 HBB IARS2 TENT5A CFL2 KRAS FBN1 HERC2 GLI1 MMP13 CLCN5 TRIP11 TGFB1 RTL1 DDRGK1 RAB23 TRPV6 GPR101 COL2A1 MCTP2 IDUA SGMS2 FGFR3 SOX9 SMOC1 SPTBN1 MATN3 EFL1 RAB33B FAM20C TCTN1 CTNS GALNS MAN2B1 TNFRSF11B PUS3 STX16 DMP1 ZEB2 RBM8A KIAA0753 FAM111A OCRL AIP MMP9 CSGALNACT1 CHST3 SFRP4 TBL2 TUBB3 RPL13 PYCR1 MAP2K2 TNFRSF11A CRTAP COL9A1 LRP5 CANT1 FIG4 GUSB MKS1 SATB2 CYP27B1 HSPG2 NDN LOXL3 B2M COL1A2 RSPRY1 RMRP VAC14 ZNF699 MEG3 MTAP ARSB LRP4 EXT2 RPGRIP1L PHEX MPZ EXT1 LBR TMEM67 NCF1 MEGF8 B9D1 BMPR1B COL11A2 CYP3A4 DNAJC30 PTPN11 SETBP1 BCR SNRPN COG5 SLC26A2 POR FLNA BCL7B NEK8 TXNDC15 EVC2 ENPP1 RECQL4 DYM CYP2R1 B3GAT3 ATRX C12orf57 ORC1 KIF7 CDC45 NSD1 TNFSF11 ELN KIF22 EIF2AK3 RUNX2 NOTCH2 KLHL41 EIF4H FN1 VPS13B COL9A2 GLI3 NKX3-2 POLR1A B9D2 TRPV4 BRAF FGF23 SLC34A3 IFT52 CA2 TMEM38B TPM2 COL10A1 BUD23 HOXA11 KAT6A GDF5 KANSL1 EVC SNORD116-1 SCARF2 CLDN3 NPR2 TMEM216 FGFR2 CCN6 NEB MAP2K1 CC2D2A DDR2 TMEM165 PWRN1 B4GALT7 VDR MKRN3 TONSL ACAN PWAR1 SKI P3H1 HPGD PLOD2 PMP22 TBXAS1 FLNB SEC24D COL1A1 P4HB RPS6KA3 TMEM270 CTC1 HS2ST1 CEP290 FIBP LONP1 TMEM231 SLCO2A1 GTF2IRD1 INPPL1 DYNC2LI1 BCOR TCTN3 COMP SERPINH1 GLB1 GAN IDS ATP6V0A2 GNPTG PRKACA CSPP1 GORAB IFT43 SOST SNX10 HS6ST1 METTL27 NFIX PEPD CLCN7 GJA1 XYLT1 LMOD3 LIFR RSPO2 COL9A3 ACP5 MAP3K7 IHH ZBTB20 CBS P4HTM SLC10A7 PCNT BHLHA9 FGFR1 SH3PXD2B WDR19 LMBR1 WDR35 SHH TRPS1 RFC2 UFSP2 CRKL IFT122 ORC6 MAGEL2 ANO5 TMEM237 PAPSS2 TMEM107 ZPR1 KDELR2 SLC2A2 PRKACB CLIP2 ABHD11 RPGRIP1 IFIH1 WNT7A NDUFAF6 LAT2 CENPT MBTPS2 STX1A IFT172 NEPRO PCYT1A CYP19A1 BGN BPNT2 MAPK1 ALPL TBCE LIMK1 MTX2 BAZ1B CLTCL1 EHHADH POLR3A UGP2 RNU4ATAC SPART RIPK4 FBN2 IFT57 ACTA1 DYNC2I1 PTH1R GTF2IRD2 GNAS ESCO2 VPS35L ANTXR2 TCIRG1 DYNC2H1 FKBP6 CLDN4 PTDSS1 NPAP1 ANAPC1 VPS37D FKBP10 MLXIPL TCTN2 DLK1 SNORD115-1 HP_DYSOSTOSIS_MULTIPLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSOSTOSIS_MULTIPLEX MAN2B1 TMEM251 NEU1 CTSA GNPTAB GUSB KRAS GNPTG AGA FUCA1 IDUA VPS33A SUMF1 NAGLU GNS ARSB SGSH HGSNAT GLB1 IDS GNE FGFR1 HP_ABNORMALITY_OF_THE_METAPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_METAPHYSIS CEP120 TENT5A DYNC2LI1 SLC35D1 LONP1 B3GALT6 LEMD3 IARS2 KCNJ8 CCN6 TRAPPC2 FBN1 MMP13 TRPV4 CLCN5 TRIP11 GJA1 INPPL1 RTL1 IDH1 TERT DDRGK1 WDR19 DYM PLEKHM1 IFT80 COL2A1 ALG9 DNAJC21 SBDS OBSL1 TERC SMAD4 TCIRG1 EXOC6B CHEK2 GPX4 FGFR3 DYNC2I1 TNFRSF11A ANKH DCLRE1C MATN3 EFL1 RAB33B NHP2 CTNS EXTL3 GALNS TNFRSF11B CHST3 STX16 CDKN1C TNFSF11 COG4 SLC26A2 PITX1 MMP9 IFT43 DYNC2I2 COL11A2 POLE CYP2R1 EZH2 RASA1 ACSL4 NDN PTH1R AIFM1 SNX10 EED SFRP4 LMBR1 CLCN7 XYLT1 DYNC2H1 COMP COL10A1 RPL13 COL11A1 SHOX LIFR MIR140 CWC27 NSMCE2 WDR26 GLB1 IL7R FIG4 RAG1 ACP5 MAP3K7 CYP27B1 TP53 HSPG2 PARN PORCN PLCB3 SIK3 AMER1 NOTCH3 PCNT ARCN1 RSPRY1 DKC1 NOP10 RMRP NANS VAC14 MEG3 CHD7 MTAP ARSB PEX7 SH3PXD2B RAG2 PHEX MAGEL2 HDAC6 LBR RUNX2 POP1 KIAA0586 TINF2 CASR RB1 UFSP2 AMMECR1 CYP3A4 PDGFRB NPM1 IFT122 CFAP410 MMP2 FN1 ALG3 ANTXR1 ADA OCRL IFT140 RECQL4 KDELR2 B3GAT3 SRP54 EIF2AK3 PTPN11 KCNE5 WDR35 GPC6 SLC17A5 KIF22 ATP7A NOTCH2 CSF1R MBTPS2 NKX3-2 ACVR1 VDR TTC21B ABCC9 CCDC8 NEPRO SLC34A3 IFT52 PISD PCYT1A CANT1 BGN LRP5 SETBP1 OSTM1 TGFB1 LPIN2 IL2RG SLC39A13 ACAN FLNA PTDSS1 NPR2 SUZ12 GNPTAB IFT172 RNU4ATAC VPS33A CENPE EXT1 RTEL1 PIK3C2A DDR2 TMEM165 IDH2 B4GALT7 WRAP53 SNRPN CSPP1 USB1 TAPT1 GNAS TONSL BMPR1B QRICH1 SKI ERCC1 PEX5 TRPV6 NSD1 PAM16 CTC1 TBXAS1 ANAPC1 SEC24D LIG4 CUL7 P4HB FAM111A SLC29A3 DLK1 ALPL EXT2 HP_HYPOPLASTIC_ILIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_ILIA FGFR3 TMEM251 SLC35D1 B3GALT6 LIFR SMAD4 ACP5 POLR3A TBX15 FLNB IHH GATA1 DYM CREBBP INPPL1 RTL1 RNU4ATAC PCNT RIPK4 WDR19 COL2A1 MEG3 ARSB SOX9 EXOC6B RUNX2 KAT6B WNT7A PCYT1A HSPG2 CCBE1 HDAC6 RPS19 NKX3-2 POP1 MAN2B1 COL11A1 TRAPPC2 COL11A2 RMRP ERCC6 ERCC8 EP300 FN1 EED EZH2 FLNA EVC DLK1 IFT81 SLC26A2 EVC2 HP_DUMBBELL_SHAPED_LONG_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUMBBELL_SHAPED_LONG_BONE COL11A2 COL2A1 SLC35D1 COL11A1 INPPL1 SLC26A2 HP_JAUNDICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JAUNDICE SLC4A1 ATP7A PEX6 ATP11C HBB SPTB VIPAS39 FLI1 PRKAR1A HNF1B PKLR PEX1 CPA1 ABCC2 ATP6AP1 PRSS2 SPOP SLC25A13 PIEZO1 PAX8 NR1H4 PRF1 PKHD1 PEX26 OCLN AKR1D1 UGT1A1 PEX14 SPTBN1 IER3IP1 EPB42 KRT8 PEX3 LHX4 STXBP2 FCGR3B PEX10 GALE IL2RG PEX12 GPR35 IFIH1 SAMHD1 TSHB APC2 POU1F1 NKX2-5 POLG2 MPV17 ETFA HBG2 RHCE ABCB4 LBR PARS2 ALDOA PEX16 SLCO1B3 ABCB11 TRMU ATP8B1 RHAG PROP1 CDIN1 GLRX5 TCF4 ANK1 STX11 CPOX PEX5 TFAM NPC1 SLC26A4 CYP7B1 LHX3 DUOX2 RINT1 TNFSF15 HESX1 RNASEH2B CTCF DPAGT1 CFTR PALLD BRCA1 PEPD ATP7B JAK2 ALDOB SEMA4D GPI CTRC NPC2 GALT PEX19 TPI1 ABCD3 ADAR SLC51B DCDC2 CYP27A1 SP110 PIGA COG7 SLC44A1 CDAN1 SLC2A1 VPS33B IL12A IYD RNASEH2C CDKN2A BRCA2 GYPC EPB41 EIF2AK3 PEX11B SLC5A5 CLDN1 KMT2E TTC37 PRPS1 TNPO3 GCLC TSHR UNC13D LPL F5 MMACHC PFKM G6PD SPINK1 ACADVL RNASEH2A GALM NSD1 SEC23B TREX1 SLC10A1 RABL3 COX4I2 SMPD1 SLC30A10 IL12RB1 LIPA JAG1 TG LYST HSD3B7 SETD2 CASK CCDC115 GALK1 TBX19 BAAT SLCO1B1 ARL13B NBAS DGUOK KRT18 RHD ALG6 HK1 PEX2 ETFDH HMGCL SLC16A2 MMEL1 TP53 RNU4ATAC DZIP1L ADAMTS13 DUOXA2 MST1 SMAD4 ETFB IRF5 PEX13 YARS1 TRHR SPTA1 ATP6AP2 BPGM POU2AF1 UNC45A KCNN4 TPO SERPINA1 DHFR PTPN3 PRSS1 IL18BP RAB27A AMACR KRAS SPIB PALB2 CASR HP_HYPERPIGMENTATION_OF_THE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPIGMENTATION_OF_THE_SKIN KMT2E CCDC32 NF1 HMGA2 HBB BUB1B UROS KRAS LMNA ERCC8 GNA11 KMT2D MAP2K2 NDUFB11 TERT CDKN2B GPR101 RAF1 RTEL1 WDFY3 CRIPT STEAP3 ANTXR2 IL7 HFE HPS1 BRAF PAX6 NHP2 BANF1 ERCC6 SDHA ATP2A2 CDKN1C TSC2 SIN3A WASF1 AIP GRIA4 HGD RBM28 PLXND1 LBR ACTL6B KCNMA1 RFWD3 MCM4 OCA2 ERCC4 KLLN CYBB CWC27 SDHC AKT1 HUWE1 TP63 TUBB BPTF C1R PLAG1 PTPN23 SMS MAN1B1 UBR7 PARN DKC1 TGM5 RET PPP1CB PIGN STAR PHIP IL6 MTOR SRD5A3 HLA-DRB1 KRT5 FANCL MRAP TINF2 HPDL PPOX PDGFRB CTLA4 UROD BCORL1 KIT KDM4B POLH TMC8 ADH5 PSMD12 DSTYK MMP2 PSENEN UBE2A POLA1 AGO2 PTPN11 MC2R ATM CHN1 JARID2 RECQL4 RERE IL12A CYP11A1 FANCI BUB1 NOP10 KRT14 ANAPC1 ZMIZ1 BRCA2 GJB4 ERCC1 ERCC5 KDM5C CDKN1B UBR1 CARD14 TXNRD2 MAX SHOC2 SLC29A3 WBP11 FANCG HRAS ATP6V1B2 SVBP FANCA STK11 CASR TANC2 MEN1 FGFR3 NOD2 SETD2 MED27 NF2 PORCN CSTA SDHD CNOT3 KANSL1 PIK3CD PSMB8 TCF20 CYBA MLH1 ARL6IP6 APC KAT8 FANCB TRAPPC11 LYST CREBBP NBN NCF1 MAP2K1 FANCE IRF5 KCNN3 DOCK3 LEMD3 FANCF GNAS CDKN2C SLC40A1 CTC1 CDKN1A KCNH1 SLC27A4 COPB1 COX7B GNAQ POFUT1 CBL APOE CDH23 REV3L CEP57 LZTR1 TRMT1 EP300 BRCA1 TRAPPC4 SLC6A19 SATB1 FBXW11 PRKAR1A KIF1B MADD SMARCAD1 RAD51C MYT1L GJB6 ABCB6 BUB3 MAFB ALDH3A2 PTEN KNSTRN ACD SPINK5 ESCO2 PIK3CA NTNG1 VHL TERC GPNMB ACTB CYP11B1 MSH2 TOP3A SDHB FANCC SLX4 SLC12A2 DNASE1L3 APC2 TFR2 FERMT1 MC1R NCF2 MAPK1 BLM SEC23A TMC6 JAK3 GJB3 XRCC2 HS2ST1 PDGFRA CPOX SOX10 PUS7 NOTCH3 PCNT TNFRSF1B KITLG GATA1 TNFSF15 XPA ZMPSTE24 SH3PXD2B IFNG BRIP1 RLIM IKBKG CYBC1 ACTL6A CD28 MAPK8IP3 ERCC2 MED12 XPC NCF4 AAAS UBE2T TTC37 NRAS USP8 IGF2 NPM1 DDB2 RPS27 HSD3B2 RAD51 USF3 FGFR1 COL3A1 NNT MAD2L2 PALS1 PALB2 PANK2 ABCD1 MYO5A HCCS SMARCAL1 TNPO3 GJA1 NSD1 C1S PMS2 KDM6A BMP2 TRIP12 IL12RB1 BTNL2 FANCD2 SPRED1 HJV CIB1 RBBP8 SALL4 TWIST2 INSR KDM6B SKIV2L DPYSL5 ST3GAL5 SASH1 GBA MMEL1 DDX6 ALAS2 HAMP MED13 TMEM127 SEC23B SETBP1 TSC1 POGLUT1 SNRPN NR0B1 ERCC3 NTNG2 IGF1 WRAP53 ACP5 PLEC USB1 CLTRN MSH6 POU2AF1 COL7A1 HTT TRIP13 TNRC6B MAPRE2 ADAR SPIB KDSR SMG8 GMPPA FANCM RIT1 TNFRSF1A HP_SINGLE_TRANSVERSE_PALMAR_CREASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SINGLE_TRANSVERSE_PALMAR_CREASE ATR RNU4ATAC SEPSECS RAB11B GDF5 RPL10 THOC2 SMPD4 PEX1 RTL1 CTBP1 HDAC8 DLX4 LIFR AMACR DIS3L2 PEX12 RPS23 NGLY1 SMOC1 ARL3 FIG4 PDHA1 VPS51 BMPR1B COX14 APC TPM2 PEX16 PEX10 EHMT1 UBR1 TCF12 CKAP2L MCTP2 LETM1 PEX3 NSD2 WAC UBR7 NIPBL RPS6KA3 ITCH LMX1B PPP2CA CCBE1 SPTBN1 VPS13B NUP107 ANKRD11 PEX2 SMC3 EXTL3 FGD1 TELO2 CTCF MAP1B PEX19 NEXMIF SIN3A KCNK9 BMP4 PEX5 NOG BRD4 NUP188 NALCN CSGALNACT1 NXN SETBP1 PEPD DLK1 ARID1B XYLT1 FGFR2 NBAS BHLHA9 PEX11B PEX14 TCF4 RIN2 PEX26 PIEZO2 HDAC4 MAP3K7 TBX4 PEX6 PACS1 UBE3B GATA1 CREBBP PLAA PKDCC TNNT3 DOCK6 STXBP1 PIGS VAC14 IFT57 TNNI2 B4GALT7 IGF1 ROR2 MEG3 DPAGT1 ADNP PUF60 RBM10 MED12 ZNF462 KATNB1 SMC1A FGFR3 MYH3 TFAP2A FGFRL1 STAG1 ESCO2 OFD1 DDX11 TGDS EXT1 CPLX1 FLNA KDM4B GLE1 IFT122 AFF3 LONP1 TRPS1 ZNF292 TSEN15 TRIM37 CDK19 MSL3 CHST3 BRF1 B3GLCT TSEN2 PNPLA6 DPH1 FOXP1 CEP55 TWIST1 NECTIN1 TSEN54 CEP57 EP300 FGF9 CD96 G6PC3 TSEN34 TASP1 MED25 IFT43 PEX13 RAD21 SMARCAD1 KAT6B HP_ACANTHOSIS_NIGRICANS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACANTHOSIS_NIGRICANS PLIN1 PPARG CAV1 NSMCE2 LMNA ERF POLR3A ALMS1 FGFR3 POMC SMARCD2 SPINK5 MC4R BSCL2 XRCC4 PKDCC ELOVL1 FOS GPR101 LIPE INSR CAVIN1 FGFR2 HRAS JUP AGPAT2 PEX6 CIDEC AFF4 AKT2 CLDN1 PSMB4 PSMB9 AIP ESR1 COPB1 HSD11B1 MTX2 CYP19A1 PSMB8 PCSK1 PEX1 CUL4B HP_CAFE_AU_LAIT_SPOT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAFE_AU_LAIT_SPOT MYT1L KMT2E BRCA2 CCDC32 NF1 ABCB6 BUB3 BUB1B KRAS PTEN KMT2D MAP2K2 ESCO2 NTNG1 VHL WDFY3 STEAP3 FANCA IL7 MSH2 TOP3A FANCC SLX4 SLC12A2 KANSL1 CDKN1C TSC2 SIN3A WASF1 GRIA4 PLXND1 ACTL6B MAPK1 KCNMA1 RFWD3 BLM TMC6 ERCC4 KLLN PIK3CA CWC27 SDHC AKT1 HUWE1 XRCC2 TP63 HS2ST1 ATM BPTF PLAG1 SOX10 PUS7 PTPN23 MAN1B1 UBR7 PCNT KITLG RET PPP1CB PHIP SH3PXD2B IFNG MTOR FANCL BRIP1 RLIM ACTL6A PRKAR1A MAPK8IP3 HPDL MED12 UBE2T TTC37 IGF2 BCORL1 KDM4B RAD51 TMC8 PSMD12 USF3 AGO2 PTPN11 MAD2L2 PALS1 JARID2 PALB2 RERE FANCI BUB1 ANAPC1 ZMIZ1 FANCE NRAS KDM5C FANCF UBR1 MAX SHOC2 WBP11 FANCG PMS2 RAF1 KDM6A HMGA2 SDHB TRIP12 SVBP BRAF TANC2 FANCD2 MEN1 SPRED1 CIB1 MED27 NF2 SDHD CNOT3 RBBP8 TCF20 TWIST2 MLH1 KDM6B ARL6IP6 SKIV2L APC KAT8 FANCB DPYSL5 DDX6 CREBBP NBN MED13 TMEM127 SEC23B SETBP1 CEP57 TSC1 MAP2K1 NTNG2 IGF1 DOCK3 MSH6 HTT TRIP13 COPB1 CBL LZTR1 TNRC6B REV3L TRMT1 EP300 BRCA1 TRAPPC4 SATB1 FBXW11 FANCM KIF1B MADD RAD51C HP_DRY_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DRY_SKIN SMARCAD1 PAX8 ERCC5 SATB1 RNASEH2C TWIST2 ARNT2 KRAS ALDH3A2 KIF11 SDR9C7 CLDN1 GNA11 TRH GJB4 SPINK5 SPEN MPLKIP ERCC2 WNT10A OFD1 KANSL1 FUCA1 MBTPS2 RYR1 TRIP4 ALOXE3 NTRK1 RNASEH2A ERCC4 NIPAL4 TREX1 CDKN2B ATP7A GPNMB ALOX12B NOTCH2 HESX1 THRA EDAR RAF1 INSR DCLRE1C TRPM1 GJA1 PHYH IFT43 RNF168 NSUN2 TP63 BRAF SOX2 ELOVL4 SLC5A5 CASR MGMT NLRP1 TGM1 NOD2 IFIH1 CDK4 SULT2B1 UBE2A SAMHD1 TSHB PRKD1 FGFR1 TARS1 EXOC2 ERCC8 RNF113A MAPK1 PEPD ALG11 IL2RG MAP2K2 ERCC6 KYNU MYSM1 GJB3 ERCC3 SKIV2L ODC1 WNT10B KRT1 IL7R PROKR2 ABCA1 BAP1 RAG1 OTX2 PEX7 POT1 DOLK LIG4 RNU4ATAC GTF2E2 PEX11B MPDU1 CD28 ELOVL1 RIPK4 EDARADD MAP2K1 TNFRSF1B TERF2IP UVSSA FLG SLC39A4 RNASEH2B MITF XPA LIPN CHD7 RALGAPA1 NAGA CTLA4 RAG2 EDA CLDN10 TRHR STS MC1R COG6 CST6 FDFT1 TERT ADA CYP4F22 KIF15 XPC CDKN2A TTC37 GSN DDOST CSTB DDB2 GINS1 POLH SOX3 PCNT ACD PPP2R3C RMRP ADAR TINF2 OSMR GTF2H5 ABCA12 KDSR PAH SMG8 HP_CYANOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYANOSIS NDUFS4 SLC2A1 ABCA3 HSD17B10 GABRG2 GDF1 SLC25A3 COL1A1 HLA-DRB1 ENPP1 AK9 RNASEH2C SCN2A SLC18A3 PSAT1 SCN1B FUZ EIF2AK4 AGXT HBA1 SNAP25 ELP1 RNASEH2A CHAT CHRND SCN1A TREX1 COL13A1 RPS6KA3 MYH6 SEPTIN9 ACVRL1 ETHE1 ZIC3 PCK1 CHRNB1 STXBP1 PUS3 AGRN SCN8A PAX3 SCN4A TMEM260 CHRNA1 IFIH1 MED13L SFTPB GATA6 SAMHD1 MYO9A NKX2-5 COL5A1 RAPSN TBX20 HBB GTPBP3 KCNQ2 HBG2 TLL1 DOK7 PRKAG2 CYB5R3 ABCC6 TCF4 ENG CYB5A NKX2-6 CHRNE SLC34A2 VAMP1 RNASEH2B MMP21 ZMPSTE24 RBM10 LMNA PCDH19 MUSK SFTPC KCNQ3 LRP4 GATA4 GABRA1 PLXND1 FUCA1 CITED2 SCN9A SYT2 PRRT2 GJA1 MVK MT-CYB COL5A2 ACTC1 SLC25A1 ADAR SLC25A20 SLC5A7 HP_HYPERKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERKERATOSIS PSENEN PPCS LEMD3 WNT10A KRAS LMNA TNNI3 RSPO1 KRT6B HPGD GJB6 TERT TARS1 PLN GJB3 DNAJC21 TNNT2 COL17A1 SLURP1 MBTPS2 TMPO CDH3 ECM1 KRT1 BRAF NHP2 FKTN GJA1 TRPV3 ATP2A2 TP63 NIPAL4 INSR GJB2 SERPINB8 TGM1 NECTIN1 SPTLC2 AKT1 ANKRD1 SOX18 KDF1 MAP2K2 KLLN COL7A1 CLEC7A ITGB4 SDHC MYH7 CAST ENPP1 MYH6 PTEN PARN KANK2 VEGFC KRT83 ABCC9 DKC1 PSEN1 TYR TNNC1 TPM1 SRD5A3 LAMA4 LRP1 TINF2 ERCC4 ELOVL4 COL12A1 ACTN2 DSP CTLA4 DSG1 TAT NAGA KRT10 FLT4 FKBP14 POLA1 ALOXE3 RECQL4 SNAP29 CARD14 KRT5 KRT14 ANAPC1 GJB4 KDSR ERCC5 LORICRIN LAMA3 KRT17 IL1RN SMARCAD1 MYPN NECTIN4 SHOC2 TRAF3IP2 IL17RC NSDHL ABCA12 SASH1 MVK PIK3CA USB1 ZNF750 KRT9 SULT2B1 HRAS GJC2 SDHD PLOD1 KANSL1 PKP1 COL6A1 SGCD KRT86 LAMC2 ST14 POMP TRAPPC11 SDR9C7 EXPH5 IKBKG GMPPA FERMT1 MAP2K1 SDHA ZMPSTE24 KRT2 LIPN ERMARD CSRP3 COL6A3 TCAP ACTC1 COG6 CRYAB CYP4F22 CTC1 RAF1 SLC27A4 MYBPC3 POFUT1 LDB3 LZTR1 SPTLC1 COL6A2 DSC3 BAG3 CERS3 SLCO2A1 ALDH3A2 HLA-DRA ADAM10 TRIP4 DSG4 ELMO2 TERC AAGAB CTSC TMPRSS6 PLEC TXNRD2 PERP NLRP1 KRT6C LAMB3 TAF1A NEXN VCL MT-TS1 RBM20 TRPM4 KLHL24 PEPD PIGL PRDM16 AQP5 GLA CAP2 ZC4H2 PMVK MPDU1 TNFRSF1B KITLG NOP10 XPA KRT16 ATL3 GATAD1 AP1B1 GRHL2 HDAC6 STS KRT13 CD28 ERCC2 IL17RA XPC PNPLA1 FUCA1 AAAS NPM1 IL17F DDB2 ATP2C1 USF3 DSG2 JUP ALOX12B MCOLN1 WRN DIP2B RHBDF2 DES COL14A1 TAFAZZIN FHL2 DDR2 SCN5A SERPINB7 DOLK GLS DDX58 SERPINA12 AP1S1 MTX2 KRT81 SDHB DMD ADAMTS2 HAND2 ATL1 RNU4ATAC SEC23B RTEL1 POGLUT1 ERCC3 WRAP53 PSEN2 NEU1 FGFR2 KRT6A TTN DSC2 ASPRV1 CFTR PDGFRB CSTA GBA RIT1 HP_THIN_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIN_SKIN PPARG C1R LMNA USP8 B3GALT6 FLNA LIFR SATB2 PDE11A COL1A2 POLR3A AIP UBE3B TMTC3 ORC1 ZMPSTE24 ERCC5 SOX18 PORCN PIK3R1 ERCC3 GORAB TGFBR2 COL1A1 PPP1CB KRT2 XPA EDARADD ADAMTS2 SLC2A10 MTAP TP63 GNAS EDA PROC FMR1 PROS1 ARF1 ARMC5 ABL1 ERCC4 DDR2 ERCC2 PDGFRB PRKAR1A XPC PYCR1 EDAR COL3A1 PTDSS1 TRAF6 COL7A1 NEDD4L DDB2 ADAMTSL2 PRKD1 PRKACA SLC39A13 B4GALT7 ERMARD MTX2 TNXB CDH23 PDE8B ARFGEF2 TWIST2 CHUK TGFBR1 PLOD1 NFIX PEPD CTC1 KDF1 ALDH18A1 MAP1B SMARCAD1 HP_ECZEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECZEMA SEC24C RNU4ATAC SMARCA2 KRT9 HLA-DQB1 PIGA BTD COMT FLI1 NCF1 SLCO2A1 ZNF341 GNA11 HPGD JMJD1C LRRC32 FECH SUOX SCNN1G CTLA4 SPINK5 KRT16 WAS MPLKIP KANSL1 STAT1 IL4R CARD14 C5 DNAJC21 CD3G SLC30A2 EDARADD SHOC2 MCCC2 FOXP3 MBTPS2 NCF2 PTPRC RTTN CYBA NBEA IL7 BRAF NEK9 PGM3 HSPA9 NUP107 HLA-DRB1 WIPF1 DDX41 NSUN2 JAK1 STAT5B DOCK8 KRT1 CASR PIK3CA RAC1 DHCR7 ZNF750 CIB1 SCNN1B TRAF6 HLCS RRAS2 SBDS CSTA TARS1 SRP54 LBR CARD11 RNF113A NCF4 IL6ST HIRA STAT3 KDF1 TMC6 CYBB RBCK1 MYSM1 TBX1 TRAF3IP2 MORC2 ZAP70 HDAC4 CYBC1 IL17RA UFD1 LIG4 SMARCC2 PAH GTF2E2 TBCK SIK3 CD28 CARMIL2 TNFRSF1B AUTS2 TGM5 SCNN1A FLG ERCC3 FOXN1 PCCB ERCC2 NOD2 GP1BB PEPD EDA ADA2 SRD5A3 IL6R TP63 TKT IFIH1 HLA-DQA1 POLE ARVCF PCCA MSN EDAR TAF1 EFL1 MS4A2 GINS1 TMC8 NSMCE3 RREB1 PRMT7 MTHFD1 IL7R CASP8 RBM8A GTF2H5 CFTR SMG8 PLA2G7 IL2RA RIT1 HP_CUTIS_MARMORATA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTIS_MARMORATA MYLK GUCY1A1 ARL6IP6 ARHGAP31 STING1 SMAD2 TGFBR2 PDSS1 HDAC8 LARP7 MYD88 RNASEH2C PIK3CA RBPJ RAD21 PRKG1 EOGT DLL4 FBN1 LIG4 FOXE3 MYH11 LOX AGXT ADA2 DOCK6 SMC1A SMC3 MAT2A RNASEH2B RNASEH2A SOX18 DHCR7 TREX1 ELN STAG1 NIPBL RPS6KA3 TGFB2 DDX11 AKT3 SMAD3 NOTCH1 TGFB3 ABL1 NSUN2 MFAP5 PTDSS1 NFIX IFIH1 ACTA2 SAMHD1 PTEN TGFBR1 BRD4 FTO NFIA ADAR POLA1 RNF113A CBS ARID1B HEY2 SMAD4 HP_HYPOHIDROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOHIDROSIS CERS3 ALOX12B ARNT2 TP63 PRDM12 GJB6 WNT10A GJB2 EDARADD MBTPS2 NIPAL4 HEXB HESX1 EDAR CRLF1 GLA CTNS STS SOX2 ELOVL4 COQ2 TRAF6 NFKBIA LMNB1 ZFHX2 ERCC8 KCTD1 FGFR1 TSPEAR SOX10 ABCA12 SHANK3 KDF1 ERCC6 SMARCAD1 LIFR ST14 PROKR2 SCN9A ALOXE3 COG6 EDA OTX2 SLC13A5 CLCF1 ALX4 GMPPA ARX MADD KRT14 COL11A1 CASK CLDN10 ADAT3 TGM1 CST6 ELP1 CSTB PNPLA1 FAM111B RIPK4 SOX3 NECTIN1 EDA2R ERCC4 GHR ROGDI POLA1 TRIP4 STIM1 PKP1 HP_PETECHIAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PETECHIAE ITGA2B CASP10 GATA1 GP1BA LCP2 GP1BB STX11 FYB1 WIPF1 WAS CALR GNA14 CLCN7 UNC13D MPL TBL1XR1 TET2 STAT5B OCLN GP9 GFI1B PEPD FIP1L1 PRKAR1A PRF1 ETHE1 ZBTB16 USP18 STXBP2 NABP1 SAMD9 JAK2 FERMT3 CD109 ETV6 RARA ITGB3 APOE HOXA11 RAB27A NEU1 BCOR ITGA2 NUMA1 NPM1 FCGR2C STAT3 PML IRF2BP2 TREX1 GBA HP_ECTODERMAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTODERMAL_DYSPLASIA TP63 CDH3 IFT122 ATP6V1B2 EDAR IFT43 NLRP1 KRT74 ORAI1 WNT10A EDARADD KANSL1 KRT14 HOXC13 KRT85 NECTIN1 GJB6 IKBKG NFKBIA WDR35 NECTIN4 MBTPS2 EVC WDR19 EVC2 EDA PKP1 SMARCAD1 HP_ANHIDROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANHIDROSIS ALPK1 EDAR SCN9A NTRK1 NGLY1 EDARADD NGF RETREG1 KIF1A COQ2 WNK1 TP63 PERP NFKBIA LMNB1 FUCA1 RYR1 ERCC6 ERCC8 MBTPS2 SPTLC2 BCS1L ITPR2 EDA CLDN10 PKP1 TRPV3 HP_ABNORMAL_SWEAT_GLAND_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SWEAT_GLAND_MORPHOLOGY NFKBIA LMNA KDF1 TBX3 ZMPSTE24 EDA NTRK1 TP63 CHUK IKBKG HP_CUTIS_LAXA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTIS_LAXA TENT5A C1R KDELR2 RTL1 GTF2I B3GAT3 GNB2 KRAS FBLN5 GTF2IRD1 GGCX ATP6V0A2 HPGD SLC2A10 CLIP2 PEX1 SLC25A24 MAN1B1 FOXC1 ABHD11 ATP6AP1 WDR35 ALG8 GORAB SLC6A8 ANTXR1 MEGF8 ELN ZNF469 AEBP1 NDUFB11 RPS6KA3 EIF4H ALDH18A1 B3GALT6 RIN2 LAT2 HRAS NAA10 MBTPS2 IFT43 STX1A CHST3 MRAS NEPRO ABCC6 PYCR1 BRAF FGFR3 WDR37 MRPS16 MLXIPL B4GALT7 BUD23 EZH2 FLNA EFEMP2 METTL27 PLOD1 FBN1 TBL2 TWIST2 DLK1 LIMK1 CLDN3 NBAS MAP2K2 PITX2 BAZ1B PTDSS1 OTUD5 NPR2 NDUFB10 GPX4 FIG4 SUZ12 XYLT2 ADAMTS2 BCL11B TBX15 MRPS22 MAP2K1 GSN VAC14 MEG3 LTBP4 CSPP1 WDR19 ATP7A SH3PXD2B GTF2IRD2 ALG12 SRD5A3 DSE EXT1 ATP6V1E1 XYLT1 SLC7A7 ATP6AP2 SPINT2 NCF1 CD96 TRPS1 KIAA0586 RFC2 FKBP6 NSD1 COL3A1 CLDN4 DNAJC30 VPS37D CHST14 CEP55 LZTR1 ATP6V1A TMEM270 EED FGFR2 BCL7B OSMR FGF20 RIT1 HP_HYPEREXTENSIBLE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPEREXTENSIBLE_SKIN ATP7A PRDM5 C1R COL1A1 ENPP1 B3GALT6 FLNA B3GAT3 RIN2 KRAS FBN1 COL5A1 COL12A1 PAX2 SMARCD2 BRAF IARS1 COL1A2 MAP2K1 PLOD1 COL5A2 GORAB ABCC6 RAF1 B4GALT7 SHOC2 GBA ADAMTS2 C1S SLC2A10 EXOC6B EHMT1 ALDH18A1 AEBP1 FGFR3 TWIST2 FGFR2 TNXB DSE SKI AKT3 YY1 SLC7A7 COL3A1 FGF10 SON XYLT2 CHST3 PDGFRB PYCR1 PUF60 INSR ZNF469 CHST14 FGD1 MAP2K2 ADAMTSL2 LZTR1 SLC39A13 FKBP14 SLC26A2 FBLN5 ANTXR1 TGFB2 PTPN11 KMT2C RIT1 HP_HYPERHIDROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERHIDROSIS KLC2 LAMC2 TENT5A SDHD GDF1 KRT9 HNF4A KDELR2 ABCC8 MEN1 CLCNKB NGLY1 SLCO2A1 KRT6B HPGD PTPN22 COL17A1 KRT16 TERT KCNJ18 VHL BIRC3 RETREG1 KRT17 HNF1A SLC18A2 GPR101 TP53 YY1 ELP1 NTRK1 MPL SPR MAX LAMA3 TERC TRPV3 UCP2 RSPO1 SCN11A HEXB SDHB HMBS CRLF1 ITGB4 SUCLG1 BRAF NHP2 DST CTSB MBTPS2 COL6A2 HINT1 P4HA2 TMEM127 FLRT1 KRT1 SCN9A SERPINB7 AIP KIF1A MED13L WNK1 MAP2K2 SLURP1 IL12B KIF1B MAP2K1 RET HLA-B KCNJ11 MLX NLRP3 COL6A1 LIFR CUL4B KRT14 GABRA3 CLCF1 SDHC MALT1 KRT5 PHOX2B ATP1A2 H19 JAK2 THPO PLAA PARN PRNP PERP HLA-DRB1 GNA14 IGHMBP2 WNT10A RTEL1 CDH23 DKC1 NOP10 DLST WRAP53 USB1 COL6A3 HNRNPK FOXP1 EPAS1 SDHA SLC1A3 KRT6A JUP CACNA1S FH IKBKG CACNA1A ALDOB IGF2 TINF2 FUCA1 CTC1 ATP1A3 DNMT3A SLC25A11 NPM1 DSG1 TAT SDHAF2 LAMB3 SLC12A3 BCL10 CFTR DDC KCNA1 CLCN6 NF1 MDH2 HP_ECZEMATOID_DERMATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECZEMATOID_DERMATITIS CYBB FOXP3 SLCO2A1 STAT3 HPGD NCF2 CYBA FLG ZAP70 BTD NCF1 HP_SOFT_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOFT_SKIN COL5A1 PRDM5 XYLT1 C1R COL1A1 COL1A2 B3GALT6 MGP ATP7A MAN2B1 ABL1 ATP6V1B2 SMAD3 COL12A1 ZNF469 ADAMTS2 PAX2 KCNH1 SLC2A10 PIGQ ELN SON IARS1 MLXIPL COL5A2 TGFBR1 FKBP14 EFEMP2 KIF22 PLOD1 MTAP TGFBR2 KCNN3 EDA TNXB SPARC HP_BRUISING_SUSCEPTIBILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRUISING_SUSCEPTIBILITY ATP7A TENT5A C1R ITGA2B COL1A1 ENPP1 B3GALT6 ATRX GP1BB F7 NBEAL2 FBN1 FOXE3 NTRK1 COL1A2 F13A1 GFI1B FAS FANCA TNXB FIP1L1 TGFB2 SERPINF2 RUNX1 HPS1 TGFB3 FANCC STXBP2 MAP2K1 SMAD3 NABP1 PTPN11 ZNF469 LMAN1 TNFSF11 MCFD2 BLOC1S3 RARA HPS4 PLAU JAK2 SNX10 BCOR TGFBR1 NFIX MAPK1 SLFN14 CLCN7 HEY2 CHST14 MYLK GATA1 USP8 ANKRD26 F8 AIP STX11 MPL LOX SIK3 PLEC PLOD1 TBL1XR1 ABCC6 SLC37A4 MTAP ELN GNAS DSE ATP7B BRAF DTNBP1 MFAP5 HBA2 COL3A1 GSN ETV6 AEBP1 COL5A2 FKBP14 SCARB2 NUMA1 FCGR2C PML IRF2BP2 C1S SMAD4 KDELR2 TGFBR2 FLNA COL5A1 F5 GBA SLC2A10 RASGRP1 GGCX WAS MYH11 TET2 UNC13D GP1BA PDE11A CASP10 VWF PRF1 RIN2 MBTPS2 ITGB3 SOS1 ZBTB16 P2RY12 LYST FANCD2 ACTA2 PRKACA GATA2 F13B NPM1 HPS3 SLC39A13 PRDM5 SMAD2 F2 PRKG1 ADAMTS2 WIPF1 GP6 MAT2A HBA1 HPS5 STAT5B FANCE GP9 PRKAR1A PRKCD TCIRG1 ARMC5 MYH9 FASLG TBXA2R CDH23 PLOD3 BLOC1S5 HPS6 STAT3 F10 TNFRSF1A KRAS HP_PURPURA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PURPURA CFHR1 ITGA2B CASP10 SEC24C COL1A1 GP1BA PRTN3 NFKB2 LCP2 GP1BB MYD88 CFH COMT HLA-DPA1 FYB1 JMJD1C TNFRSF13B GGCX WAS CALR PROC C2 UNC13D C4A MPL ICOS SH2B3 CD81 TET2 GBA OCLN F13A1 GFI1B NLRP3 FIP1L1 PRF1 ETHE1 CR2 COL3A1 ZBTB16 STXBP2 P2RY12 NABP1 ITGB3 PROS1 SAMD9 JAK2 FERMT3 CD109 COL5A1 SBDS TFR2 RARA HOXA11 BCOR CFHR3 F13B HIRA NPM1 ORAI1 CHST14 CD19 TBX1 GATA1 ARL6IP6 USP8 F2 AIP STX11 TNFSF12 WIPF1 UFD1 GNA14 CLCN7 GP6 IFNG TBL1XR1 STIM1 ACP5 STAT5B TNFRSF13C GP9 PEPD ADA2 MS4A1 PRKAR1A PTPN22 HLA-DPB1 USP18 ARVCF TERC PRKCD TBXA2R TERT ETV6 MVK RREB1 APOE COL5A2 RAB27A NEU1 CTLA4 ITGA2 NUMA1 FCGR2C STAT3 PML IRF2BP2 NFKB1 TREX1 HP_PALLOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALLOR SLC4A1 RPS28 GABRG2 SDHD HNF4A ABCC8 RPS15A HBB MYD88 RPL27 FANCI KIF5A SPTB SCN2A ADA2 COL12A1 RPL18 SCN1B KLF1 CALR SMAD4 PTS KIT VHL HEXA LRAT MPL FBP1 HNF1A SH2B3 PIEZO1 RAG2 G6PD WDR19 RPL35 TET2 SCN1A OPA1 CUBN IFT43 RPL35A UCP2 STEAP3 PRPF4 FANCA GATA1 EPB42 NPRL3 EPB41 HBG1 FANCC STXBP1 SLC46A1 HBA1 TMPRSS6 TMEM127 SDHB MSTO1 BMPR1A RPL15 FANCD2 TNFSF11 ENG AIP TSR2 RPS19 JAK2 CASK RAG1 SLC19A2 KIF1B RPS7 RET SNX10 GATA2 DEPDC5 KCNJ11 MMADHC FDXR RPS27 ASXL1 CLCN7 TNPO3 HMGCL RPL11 SDHC HBG2 CDIN1 ATP1A2 ANK1 MEN1 HGSNAT TTC8 ALAS2 RPS20 AGBL5 GABRB3 IKBKG ALS2 RPL5 CDH23 TMEM126A NRL RPL31 CACNA1A CACNA1H TRNT1 DLST SLC2A1 ZNF699 KCNQ2 FANCE ACO2 PCDH19 RPS29 SPTA1 EPAS1 SDHA SLC1A3 MAX JRK RPS10 FH RPS26 TCIRG1 GABRA1 RPL26 KIF23 AMN SF3B1 POMGNT1 PUS1 ATP1A3 SCN9A DNMT3A SLC25A11 MT-CYB HBA2 DHFR SDHAF2 SRSF2 NPRL2 RAX2 RPS17 ACAT1 RPS24 KLHL7 NF1 PRPF6 MDH2 HP_SKIN_RASH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_RASH SLC4A1 CASP10 FCGR2B ENPP1 ERCC5 PRTN3 NLRP3 LCP2 SPTB BTD NCF1 HLA-DPA1 LACC1 NAXD HLCS GJB4 TREX1 SPINK5 IGLL1 MVK HLA-DRB1 UNC13D CDK10 IL1RN RAG2 PRF1 CD79B ZAP70 TNFAIP3 TRAF3IP2 CBL NCF2 IL17RC LMBRD1 COX4I2 CYBA LYZ RFXANK OTULIN STAT4 ERCC2 EPB42 DCLRE1C GJA1 RUNX1 PSMB10 SRSF2 KIT NLRP12 STXBP2 RFXAP SDHA BTNL2 TEK DNASE1L3 IL2RG IRAK1 NOD2 PSMB9 RAG1 SBDS SRP54 APOA1 SYK LBR MEFV MIF BLM SPP1 SMARCAD1 JAK3 CLEC7A GJB3 ERCC3 STING1 RIPK1 STAT3 BLNK PDGFRA ACP5 ANK1 CYBB STX11 LYST IL17RA NLRC4 CIITA CD28 PTPN22 TNFRSF1B IGHM ABCC6 LRRC8A IL6 TNFRSF1A AK2 ADA2 CLTRN IFNG FCGR2A B2M SPTA1 SDHB LPIN2 IKBKG SDHC DNAJC21 HLA-DPB1 BTK TCF3 TET2 DNASE1 EFL1 CTLA4 PSMB4 PIK3R1 IL17F RFX5 CD79A POMP SLC6A19 FGA KDSR ERCC4 ASXL1 HP_PRURITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRURITUS CERS3 ENPP1 NRAS IL12A CCDC47 ALOX12B UROS KRT14 FLI1 ZNF341 SDR9C7 HLA-DRA FECH DSP TNPO3 STX3 CDSN KIT TET2 ALOXE3 CARD14 NR1H4 DSG4 MPL NIPAL4 TRPV3 TRAF3IP2 CBL GPNMB IL17RC SCN11A COL7A1 PKHD1 EPOR SLC17A9 DCLRE1C SCN9A MVK RUNX1 SRSF2 IL12RB1 ATP2A2 BAAT LIPA PERP DNASE1L3 GPR35 IL31RA TGM1 SULT2B1 FH EPAS1 JAK2 ABCA12 ABCB4 LBR PDGFRA PEPD IL2RG ASXL1 NLRP3 ABCB11 CLEC7A ATP8B1 IL7R KRT5 STAT3 MIA3 RAG1 TCF4 FDPS MMEL1 PLCG2 PMVK THPO SCN10A CD28 POGLUT1 TNFRSF1B GATA1 MVD MST1 TNFSF15 ABCC6 LIPN CHD7 TJP2 IRF5 CYP7B1 FLG2 CTLA4 RAG2 LDHA ATP7B AQP5 LRP1 TRPM4 IL17RA ADA CYP4F22 SEMA4D POU2AF1 UNC45A GSN UROD SLC27A4 PNPLA1 IL17F LIG4 POFUT1 PTPN3 PSENEN RMRP SPIB OSMR MC1R MYO5B ASPRV1 CFTR DCDC2 HSD3B7 PKP1 HP_XANTHOMATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_XANTHOMATOSIS LDLRAP1 PPARG ABCA1 LMNA GHR SMPD1 LDLR KRAS APOA1 ABCG5 SLC37A4 EPHX2 ABCG8 TTPA CYP27A1 LPL APOE LIPC G6PC1 LMF1 APOB PPP1R17 PCSK9 APOA5 APOA2 APOC2 FGFR1 HP_CUTANEOUS_PHOTOSENSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTANEOUS_PHOTOSENSITIVITY ERCC2 CPOX ERCC3 FCGR2B ERCC5 ABCB6 ERCC8 NHLRC1 UROS HERC2 PCNA GJB4 TREX1 RECQL4 MPLKIP EPM2A C4A FECH IFIH1 SAMHD1 SLC17A9 NBN GJA1 MVK NSUN2 LIG4 DHCR7 PPOX ALAS2 TARS1 FERMT1 ERCC1 NCF2 RNF113A DDB2 PEPD SNORD116-1 BLM SLC6A19 ERCC6 CYBA CYBB POLH GJB3 KRT5 UROD SYNGAP1 RORB CLPX KRT1 HFE LYST FDPS PMVK NCF1 NDN GTF2E2 KRT10 PRICKLE1 ERCC4 PTPN22 CARMIL2 GATA1 MVD UVSSA PWRN1 XPA MKRN3 PWAR1 CLTRN FCGR2A TP63 CYBC1 FDFT1 XRCC4 SCARB2 XPC NCF4 KRT14 NPAP1 DNASE1 CTLA4 COL7A1 SNRPN MAGEL2 GTF2H5 KDSR DDX6 SNORD115-1 CSTB HP_MOLLUSCOID_PSEUDOTUMORS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOLLUSCOID_PSEUDOTUMORS PLOD1 COL5A1 COL3A1 COL1A1 ZNF469 COL5A2 HP_MELANOCYTIC_NEVUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MELANOCYTIC_NEVUS PIK3CA A2ML1 SDHC AKT1 PTPN11 NRAS SDHB RIT1 ERF CHRNA7 HRAS PTEN KRAS BRAF ERCC5 SEC23B MRAS RBM28 FGFR3 RAF1 PDE4D PTCH2 ERCC3 LZTR1 XPA SUZ12 TP63 FKBP10 CDH3 SPTBN1 HPS1 FGFR2 PTCH1 FBN1 CBL THPO TNFRSF11B ERCC4 ERCC2 SUFU XPC PRKAR1A RRAS COL3A1 RASA2 TYR SOS2 OCA2 DDB2 RRAS2 IGF2 EED BLOC1S5 USF3 SDHD MC1R TNFRSF11A SOS1 MPL KLLN HP_FACIAL_CAPILLARY_HEMANGIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_CAPILLARY_HEMANGIOMA GLI3 EPHB4 CD96 POR DHCR7 RASA1 RECQL4 ESCO2 OFD1 MGAT2 HP_HYPERTRICHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTRICHOSIS SMPD4 ERLIN2 HMGA2 SURF1 HDAC8 CDH11 SIX3 MT-TS1 GNB2 CCDC47 UROS BMP2 KNSTRN RAI1 DEAF1 FGFR1 MT-ND6 AMMECR1 FREM1 SLC25A24 ABCC9 SPEN KMT2A TRIO STIL FOS FLII SPOP GPR101 TP53 GLI2 DDB1 ALG9 TRMT10A UBR7 HGSNAT IDS KDM1A ZIC2 RAB3GAP1 INSR CAVIN1 SPTBN1 DHX30 AGPAT2 SMC3 MT-TS2 RAB18 MAP1B GLB1 SNX14 KIAA0753 UBE2A AIP NAGLU SNAI2 MBD5 PAX3 EMC10 NDUFA2 DPF2 TMCO1 NIPBL MAPK1 ATP6V1B2 ARID1B BLM MT-TH XYLT1 MTFMT TRAPPC9 CKAP2L LTBP3 CUL4B SMARCB1 CDC42 TRAIP GJB4 CHMP1A RAD21 HFE TTI2 KCNMA1 ZBTB20 SMS ABCA5 KCNK4 MT-CO1 SHH CDKL5 NFIX WNT4 GATA1 NANS PPP1R15B PIGN ZNF699 HNRNPU CTCF PHIP SUZ12 DOCK7 TACO1 NDUFA12 SRD5A3 NDUFAF3 LIPT1 NUS1 SLC19A3 SMARCA2 MED13 KDM4B GNE AFF3 CERT1 ASXL1 SMARCC2 PUF60 TAF1 IL1RAPL1 PPOX UROD CTSC DISP1 CDH2 MT-TW UGDH SETBP1 SMARCD1 SOX10 NDUFS8 OGT GNS NOTCH2 PSMD12 NEU1 FGF8 WAC PDHA1 PPARG TASP1 MT-ND4 MITF ARID1A COG7 TALDO1 KRT10 SOX4 BICRA ARID2 CWF19L1 RPS23 MT-TL1 COX5A ARL3 USP9X FGF3 SOX11 TLK2 CHRNA7 CDK10 ZNF711 EHMT1 PET100 SLC29A3 WBP11 KCNH1 SMARCE1 MT-CO2 NDUFA9 MAN2B1 NDUFAF6 PACS1 NDUFS2 HSPA9 NDUFS3 COX15 PACS2 PSMC3 SMCHD1 ASXL3 TMEM94 DPAGT1 AFF4 FHL1 NDUFA10 UQCC2 SCO2 NDUFV2 TBCD BPTF TUBGCP2 SMARCA4 MT-ND1 RUSC2 BRD4 SMC1A MT-ND5 CHSY1 NDUFA13 TWIST2 PIK3CD ANKRD11 PSMB8 NDUFV1 IQSEC2 BSCL2 NDUFS7 NSUN2 SETD5 IGF1R NDUFA4 MT-CO3 PIGU PHF8 VPS37A POLR3A UGP2 CDON NDUFS1 MED27 ARX VPS33A EBF3 TBCK GNA14 KCNN3 KIT KNL1 MAB21L1 KATNB1 SGSH CAV1 SDHA STAG1 LEMD3 SLC1A4 MT-TF EDNRB ADAT3 FOXRED1 KIFBP ZNF292 MT-TQ RNF125 TAF6 EDN3 B3GLCT NDUFB8 NDUFS4 SPATA5 TRMT1 NECTIN1 CSNK2A1 NDUFAF5 KLF13 NDUFAF2 ECHS1 NMNAT1 HP_PYODERMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PYODERMA IL10RA BTK LAMB3 LAMC2 LAMA3 HP_ABNORMALITY_OF_SKIN_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SKIN_PIGMENTATION A2ML1 CCDC32 NF1 NRAS PIGA LEMD3 BUB1B HERC2 ERCC8 KMT2D MT-ND6 MAP2K2 CDKN2B RTEL1 WDFY3 STEAP3 MITF CDH3 TERT DCPS HPS1 BRAF TYRP1 ERCC2 CBL MT-TS2 TNFRSF11B ATP2A2 SIN3A SOS2 AKT1 HGD RBM28 PLXND1 EDARADD KCNMA1 SOS1 NHP2 ERCC4 ERCC3 SNRPN SDHC SNAI2 HUWE1 WRAP53 FOXD3 TP63 CACNA1F HFE C1R PLAG1 PARN NDN UVSSA TYR RET ZNF699 STAR PHIP IL6 MYO5A MTOR CTNNB1 LMNA PROC PTCH1 MRAP BTK SUFU KIF15 EDN3 CDKN2A PPOX PDGFRB UROD OCA2 KIT RRAS2 MT-TW TMC8 ACD DSTYK PSENEN TNFRSF11A UBE2A CCN2 MFRP ATM CHN1 JARID2 RECQL4 RERE CYP11A1 BUB1 COMT UBE3A NOP10 KRT14 ZMIZ1 BRCA2 MPLKIP KDM5C PTCH2 CDKN1B CARD14 TXNRD2 MAX SHOC2 MAGEL2 FANCG SOX10 HRAS HMGA2 SVBP RRAS CASR MGMT TANC2 LYST TINF2 FGFR3 MED27 IDUA TARS1 MTX2 KAT6A SLCO1B1 SDHD HIRA SNORD116-1 KDF1 PSMB8 ERCC6 MLH1 TBX1 APC FANCB PDE4D FERMT1 MAP2K1 TCF4 PWRN1 TUBGCP6 FANCE IRF5 CTLA4 KCNN3 FKBP10 MKRN3 DOCK3 MT-TF PWAR1 FBN1 CDKN2C CDKN1A XPC SLC27A4 IGF2 VPS13B GNAQ POFUT1 GNAS PAX3 APOE CDH23 CEP57 RAB27A TWIST2 BRCA1 SLC6A19 SATB1 CXCR4 RAF1 KIF1B SMARCAD1 RAD51C GJB6 SIM1 BUB3 RIT1 ALDH3A2 PTEN ESCO2 PIK3CA VHL EDNRB GPNMB CYP11B1 FANCA MSH2 TOP3A SDHB SLX4 FGFR2 BLOC1S3 TRAF6 LAMB3 SLC40A1 PRKAR1A B4GALT7 MC1R NLRP1 NCF2 EED KLHL24 RNF113A MAPK1 CBS BLM SEC23A MAP3K7 GJB3 TSC1 HS2ST1 PDGFRA ACP5 POMC CWC27 PUS7 EPG5 CAT PAH MT-CO1 NOTCH3 ABCB6 KITLG TNFSF15 XPA SUZ12 SH3PXD2B IFNG EDA SRD5A3 BRIP1 RLIM IKBKG ACTL6A THPO AP3B1 MAPK8IP3 NCF4 AIRE AAAS UBE2T TTC37 USP8 CTSC DDB2 RPS27 RAD51 ALG3 USF3 COL3A1 DCT PALB2 ZPR1 MT-TL1 HCCS SMARCAL1 TNPO3 ZMPSTE24 AP3D1 EBP DUOX2 GJA1 ABCD1 DKC1 NF2 NSD1 FANCI MT-CO2 KDM6A DST BMP2 TRIP12 IL12RB1 BTNL2 FANCD2 SLC45A2 CIB1 FANCL LRMDA RBBP8 SALL4 KRAS SLC24A5 BLOC1S6 SKIV2L DPYSL5 MT-CO3 DDX6 UFD1 MED13 MRAS CCR6 POGLUT1 LZTR1 HPS5 IGF1 PLEC UROS ATP7A GP1BB CLTRN HJV SEMA4A KRT5 LAMTOR2 POU2AF1 EDAR COL7A1 ANAPC1 PCNT MAPRE2 ADAR HBB SPIB KDSR PCSK1 KMT2E ERF GNA11 NDUFB11 CAV1 GPR101 DNAJC21 COL17A1 CRIPT ANTXR2 IL7 SPTBN1 PAX6 CTNS BANF1 GPR143 SDHA CDKN1C TSC2 WASF1 CDK4 AIP GRIA4 SOX18 LBR ACTL6B RFWD3 MCM4 KLLN CYBB TUBB BPTF SLC35A2 DDX3X PTPN23 SMS MAN1B1 UBR7 PORCN TERF2IP TGM5 PPP1CB PIGN HLA-DRB1 HPDL BCORL1 ITGB4 KDM4B POLH ADH5 PSMD12 MMP2 ANTXR1 POLA1 OCRL GTF2H5 AGO2 PTPN11 MPL MC2R SEC24C ERCC5 IL12A CLCN7 JMJD1C GJB4 ERCC1 LAMA3 UBR1 SLC29A3 WBP11 DCLRE1C ATP6V1B2 NSUN2 STK11 MEN1 NOD2 SETD2 CSTA RDH11 CNOT3 PTPN22 KANSL1 PIK3CD TCF20 CYBA ARL6IP6 LAMC2 KAT8 TRAPPC11 PLCG2 CREBBP NBN NCF1 GTF2E2 LRBA USP9X FANCF MT-TQ ARVCF CTC1 KCNH1 ATP10A COPB1 COX7B RREB1 REV3L TRMT1 EP300 BLOC1S5 TRAPPC4 PSAP FBXW11 HPS6 MADD MYT1L WDR73 MT-TS1 MAFB CHRNA7 KNSTRN SPINK5 NTNG1 TERC ACTB FANCC SLC12A2 FAS DNASE1L3 APC2 TFR2 HPS4 SLCO1B3 MT-TH TMC6 JAK3 XRCC2 BAP1 CPOX GALC POT1 TNFRSF1B GATA1 CYBC1 CD28 MED12 MLPH DTNBP1 NPM1 HSD3B2 FGFR1 NNT MT-ND4 POGZ MAD2L2 PALS1 PANK2 LIFR KIAA0319L SLC17A5 C1S PMS2 FLNA SPRED1 MT-ND1 HPGD MT-ND5 HPS3 INSR KDM6B ST3GAL5 SASH1 GBA MMEL1 ALAS2 HAMP LIG4 TMEM127 SEC23B SETBP1 NR0B1 NTNG2 USB1 MSH6 PROS1 RASA2 NPAP1 HTT TRIP13 TNRC6B EMC1 SMG8 GMPPA SMO SNORD115-1 FANCM TNFRSF1A HP_ABNORMALITY_OF_SUBCUTANEOUS_FAT_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SUBCUTANEOUS_FAT_TISSUE PLIN1 PMM2 TBL1XR1 CAV1 AKT1 IGF1R PTEN POLR3A LMNA TGFB1 SLC25A24 RBM28 TRMT10A BSCL2 ALG8 COL1A1 PPP1R15B PIK3CA ALMS1 ADAMTS2 BMPR1A ATP6V1E1 ZMPSTE24 SKI NAA10 TOP3A FBN1 COL1A2 PHGDH INSR AGPAT2 MEN1 KCNK9 CDKN1B PPARG SLC2A2 FH ADAMTSL2 PRKACA ATP6V1A MTX2 SOX18 PTF1A ATP6V0A2 ERCC6 ERCC8 FGFR1 TGFB3 LEMD2 HP_MULTIPLE_LENTIGINES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_LENTIGINES NRAS BRAF MAP2K1 KITLG DSTYK PRKAR1A RAF1 SHOC2 KRAS STK11 MAPK1 PTPN11 SMARCAL1 MAP2K2 HP_LYMPHEDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LYMPHEDEMA PMM2 GLA A2ML1 TSC1 AKT1 ZNF408 PTPN11 TSC2 CDC42 KIF11 SLC35D1 LEMD3 NRAS GATA2 RIT1 FAT4 KRAS CCBE1 CTNNB1 DCHS1 BCL6 KIF7 VEGFC SHANK3 INPPL1 MRAS NAGA IKBKG SOX18 PTEN RAF1 MAP2K1 FLT4 LZTR1 FZD4 SPG11 RASA1 ANGPT2 BCL2 ADAMTS3 LRP5 RELN LBR ANTXR2 DNMT1 HLA-DRB1 TSPAN12 PTPN14 GJC2 CBL ABCC9 BRAF PIK3CA GUSB RRAS CELSR1 FOXC2 RASA2 SOS2 RRAS2 TIE1 EPHB4 NDP CDK5 PIEZO1 NLRP3 MAPK1 SOS1 MAP2K2 HP_DERMATOLOGICAL_MANIFESTATIONS_OF_SYSTEMIC_DISORDERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DERMATOLOGICAL_MANIFESTATIONS_OF_SYSTEMIC_DISORDERS NDUFS4 SLC4A1 ATP7A GDF1 SLC25A3 COL1A1 PEX6 PROC ATP11C HBB SPTB VIPAS39 FLI1 PRKAR1A SLC18A3 HNF1B PKLR PEX1 CPA1 EIF2AK4 AGXT ABCC2 ATP6AP1 PRSS2 SPOP SLC25A13 PIEZO1 PAX8 NR1H4 PRF1 PKHD1 PEX26 OCLN AKR1D1 COL13A1 RPS6KA3 MYH6 SH2B3 UGT1A1 PEX14 SPTBN1 IER3IP1 ACVRL1 ZIC3 EPB42 KRT8 CHRNB1 STXBP1 PEX3 LHX4 STXBP2 PUS3 FCGR3B SCN8A SCN4A PEX10 GALE IL2RG PEX12 GPR35 IFIH1 SAMHD1 TSHB APC2 MYO9A POU1F1 TBX20 SCN2A NKX2-5 POLG2 MPV17 KCNQ2 ETFA HBG2 RHCE ABCB4 LBR PARS2 ALDOA VHL PEX16 SLCO1B3 DOK7 PRKAG2 CYB5R3 ABCB11 TRMU ATP8B1 RHAG ENG CYB5A PROP1 CDIN1 GLRX5 TCF4 ANK1 STX11 CHRNE SLC34A2 CPOX PEX5 TFAM ATRX NPC1 SLC26A4 CYP7B1 LHX3 DUOX2 RINT1 TNFSF15 HESX1 RNASEH2B CTCF SFTPB ZMPSTE24 DPAGT1 CFTR PALLD BRCA1 PEPD LMNA MUSK ATP7B JAK2 ALDOB LRP4 GATA4 GABRA1 ELP1 SEMA4D FUCA1 GSN CITED2 GPI SYT2 CTRC NPC2 PRRT2 GALT CHRNA1 PEX19 KCNQ3 COL5A2 TPI1 ACTC1 ABCD3 SLC25A1 ADAR SLC51B DCDC2 TLL1 CYP27A1 SP110 PIGA COG7 SLC44A1 SLC2A1 ABCA3 HSD17B10 GABRG2 CDAN1 HLA-DRB1 VPS33B IL12A ENPP1 AK9 IYD RNASEH2C CDKN2A BRCA2 GYPC EPB41 EIF2AK3 PEX11B SLC5A5 CLDN1 PSAT1 KMT2E TTC37 PRPS1 TNPO3 GCLC SCN1B FUZ TSHR UNC13D HBA1 LPL F5 MMACHC PFKM G6PD SNAP25 SPINK1 DAXX ACADVL RNASEH2A GALM CHAT CHRND NSD1 SEC23B SCN1A TREX1 SLC10A1 RABL3 COX4I2 SEPTIN9 ETHE1 PCK1 SMPD1 SLC30A10 AGRN IL12RB1 LIPA JAG1 PAX3 TG LYST HSD3B7 TMEM260 MED13L SETD2 GATA6 CASK CCDC115 GALK1 COL5A1 TBX19 RAPSN GTPBP3 PROS1 BAAT SLCO1B1 ARL13B NBAS DGUOK KRT18 RHD ALG6 HK1 PEX2 ETFDH HMGCL ABCC6 NKX2-6 SLC16A2 MMEL1 TP53 RNU4ATAC DZIP1L ADAMTS13 VAMP1 DUOXA2 MST1 MMP21 SMAD4 ETFB RBM10 IRF5 PEX13 YARS1 PCDH19 TRHR SPTA1 SFTPC ATP6AP2 BPGM PLXND1 POU2AF1 UNC45A KCNN4 SCN9A TPO GJA1 MVK MT-CYB SERPINA1 DHFR PTPN3 PRSS1 IL18BP RAB27A AMACR KRAS SLC25A20 SPIB SLC5A7 PALB2 CASR HP_HIRSUTISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIRSUTISM PPARG RPL10 NRAS HDAC8 KCNJ8 KMT2D BBS1 ARL6 RAB3GAP1 RTL1 SPEN GLI3 KMT2A RAB3GAP2 BBS12 GPR101 MMP23B ELMO2 CYP11B1 HGSNAT IFT27 GLB1 MKS1 NPHP1 SMC3 AIMP2 MAP1B LRPPRC TBC1D20 CCDC28B UBE2A AIP MGAT2 NAGLU BBS5 IDUA MBD5 BBS7 EMC10 CDK5 H6PD DPF2 ARX CNOT2 LMNA NIPBL NFIX MAPK1 PEPD EP300 ARID1B IFT74 CKAP2L IRF6 GJB3 SMARCB1 CAV1 OTUD5 AKT1 USP8 TUBB BBS9 GUSB TBX15 TWIST1 RERE PRKCZ ABCA5 FRMD4A HSPG2 PTEN WNT4 SMO SCAPER CPOX NANS ALMS1 CEP290 MAP3K1 MEG3 ADNP ARSB TWIST2 LUZP1 CACNA1G SOX6 PLAA GNE PRKAR1A INSR SMARCC2 TAF1 CTSC HSD3B2 IFT172 SMARCD1 MMP2 GNS NOTCH2 BBIP1 WAC MKKS TASP1 GNAS ARID1A SHROOM4 RAD21 PAPSS2 SOX4 LZTFL1 ARID2 PPP1R21 BMP15 FGFR2 NR3C1 LMNB2 SMARCD2 GJB4 FLNA BSCL2 SRCAP WDR81 KDM6A KCNH1 SMARCE1 CNP FUT8 CCBE1 RAB18 RIN2 XYLT1 GJA1 KCNAB2 WDPCP ASXL3 AFF4 UBE4B SMARCA4 SUCLA2 PRKACA CAVIN1 BRD4 NKX6-2 CYP19A1 SMC1A ASXL1 SETD2 SKI ABCC9 MMP14 GATA1 POLR3A ADAMTS2 TBCD BCL11B CREBBP VPS33A SDCCAG8 TBCK CASZ1 PRDM16 SLC25A24 MAB21L1 SGSH CFAP418 MOGS TTC8 ARMC5 CAPN15 POR AGPAT2 ERCC6 TAF6 COPB1 MAPRE2 CDH23 BBS4 BBS2 TRIM32 FSHR MC1R MAP3K7 CEP19 KDSR GABRD PDPN DLK1 OFD1 SOX11 BBS10 HP_TELANGIECTASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TELANGIECTASIA ZNF408 ENPP1 MT-CYB GNPTAB IRF5 ENG WNT10A PIGL PTEN LMNA WRN POLE PCNA SLC37A4 SPEN SLC2A10 HLA-DRB1 RECQL4 ERCC5 TERT KIAA0319L SOX18 ERCC2 TALDO1 PIK3CA PGAP2 CAV1 MMP23B ELMO2 DAXX ARX MT-ND2 SLC29A3 TERC PIGV STN1 POLD1 ANTXR2 IL7 LMX1B CYLD HFE ACVRL1 NHP2 MT-ND6 KCNAB2 NDUFS2 BMP2 CTSA SMAD4 LIG4 ATR MT-CO1 GPR35 CIB1 UBE4B ACTA2 PORCN TREX1 MRE11 CCR6 FERMT1 PIGY MASP1 MT-ATP6 SDHD LBR DDB2 BLM TMC6 DNAJC30 SKI ERCC6 KLLN POLH NF1 GLA ARL6IP6 MT-ND4 SDHC STING1 SDHB TCF4 FRG1 ATM CTNNB1 RERE PRKCZ HSPG2 PIGO MT-CO3 KIT CCN2 ATRX PARN SEC23B NAGA RTEL1 CASZ1 PEX6 DKC1 PRDM16 ERCC3 NOP10 MST1 UVSSA STXBP1 CCM2 FZD4 ABCC6 XPA WRAP53 RASA1 MT-ND5 VPS53 USB1 LRP5 PEPD LUZP1 SETX TSPAN12 RNF213 IKBKG DPM1 TINF2 ERCC4 XRCC4 GNAQ PIGW SEMA4D GDF2 XPC CTC1 COL3A1 ANAPC1 USP8 NPM1 BMPR2 COL7A1 TMC8 EPHB4 NDP CDH23 USF3 NEU1 AKT1 MT-ND4L GABRD PDPN MT-ND1 PGAP3 RNF168 HP_HYPOPIGMENTATION_OF_THE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPIGMENTATION_OF_THE_SKIN SIM1 NRAS ABCB6 WDR73 IRF5 LEMD3 MAFB UROS ERF HERC2 PTEN LMNA TERT CAV1 TERC EDNRB SNAI2 CRIPT MITF IL7 SNRPN DCPS SPTBN1 HPS1 NHP2 TYRP1 CTNS SLX4 KANSL1 TP63 FAS NDUFB11 FGFR2 TSC2 BLOC1S3 UBE2A APC2 TYR HPS4 FERMT1 PAX3 SOX10 LAMTOR2 MC1R NDN KLHL24 CBS RFWD3 BLM TMC6 OCA2 ERCC4 KLLN PIK3CA SDHC XRCC2 MAGEL2 CACNA1F POMC GALC SLC35A2 SMS EPG5 TSC1 PARN PAH SLC45A2 PCNT TNFRSF1B DKC1 KITLG GATA1 NOP10 PIGN ZNF699 XPA MYO5A IFNG POFUT1 CTNNB1 HLA-DRB1 KRT5 IKBKG FANCC TINF2 BTK AP3B1 ERCC2 MLPH XPC DTNBP1 EDN3 UBE2T PPOX TTC37 CTLA4 UROD NPM1 CTSC DDB2 POLH RAD51 TMC8 ALG3 HRAS PSENEN USF3 ANTXR1 CCN2 OCRL UBE3A DCT CHN1 MAD2L2 SEC24C RECQL4 ZPR1 KIT CLCN7 COMT KRT14 HCCS JMJD1C BRCA2 RAB27A AP3D1 EBP ERCC5 FANCE KIAA0319L SLC17A5 NSD1 FANCI BTNL2 FANCA LYST FGFR3 CIB1 SETD2 FANCL SDHD PTPN22 LRMDA SALL4 HIRA HPS3 SNORD116-1 TWIST2 MLH1 KRAS SLC24A5 TBX1 BLOC1S6 SKIV2L MTOR TCF4 SDHB FANCB SASH1 UFD1 SEC23B RTEL1 CCR6 CD28 POGLUT1 ERCC3 PWRN1 HPS5 WRAP53 ACP5 USB1 ATP7A GP1BB MKRN3 PWAR1 CLTRN FANCF ARVCF CTC1 NPAP1 ANAPC1 ATP10A FANCG COX7B RREB1 APOE ADAR BLOC1S5 BRCA1 SLC6A19 PSAP AKT1 BRIP1 FANCD2 HPS6 AIRE SMO SNORD115-1 FANCM PALB2 PCSK1 RAD51C HP_MULTIPLE_LIPOMAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_LIPOMAS APC ENPP1 ALX3 PTEN MT-RNR1 CDKN2B MT-TK CDKN1B MT-TP ABCC6 PIK3CA ZSWIM6 FLCN AKT1 AP2S1 MT-TQ BMPR1A VANGL2 CDKN2C ALX1 KRAS VANGL1 MEN1 CDKN1A MSTO1 MT-TS2 SPRED1 MFN2 LEMD3 CCL2 MT-ND5 FUZ FGFR1 MT-TL1 MT-TF MT-TS1 MT-TH TBXT GNA11 HP_ANGIOKERATOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANGIOKERATOMA AGA GLA NAGA FUCA1 MANBA GLB1 HP_ANEMIC_PALLOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANEMIC_PALLOR FANCE TET2 BMPR1A FANCD2 ENG FANCC FANCA SMAD4 HP_ABNORMAL_PALMAR_DERMATOGLYPHICS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PALMAR_DERMATOGLYPHICS ATR RNU4ATAC SEPSECS RPL10 THOC2 SMPD4 RTL1 HDAC8 DLX4 DIS3L2 KRAS PDHA1 VPS51 PEX1 BMPR1B SLC25A24 HNRNPK COX14 APC TPM2 GPR101 PEX10 NUP88 MCTP2 PEX3 NSD2 UBR7 RPS6KA3 GDF5 ITCH PPP2CA SMOC1 SPTBN1 BRAF ANKRD11 SMC3 EXTL3 FGD1 TELO2 ATP6V0A2 MAP1B SPECC1L NEXMIF SIN3A KCNK9 BMP4 WDR37 NOG AIP NUP188 ASXL2 CSGALNACT1 NXN NIPBL PEPD ARID1B XYLT1 FGFR2 MAP2K2 CKAP2L CHD7 BHLHA9 PEX11B OTUD5 PEX14 FIG4 PEX26 HDAC4 MAP3K7 UBE3B PEX6 PORCN NALCN PEX5 PKDCC DOCK6 STXBP1 PIGS VAC14 CTCF ROR2 MEG3 DPAGT1 ADNP MED12 FGFR3 MTOR MYH3 TFAP2A RBM10 FGFRL1 DSE TGDS EXT1 PLAA CPLX1 YY1 KDM4B IFT122 AFF3 DPYD LONP1 TRPS1 TRIM37 MSL3 MYOD1 TSEN2 CHST14 DPH1 FOXP1 CEP55 SMARCA2 FGF9 CD96 AUTS2 TASP1 MED25 IFT43 PEX13 RAD21 RAB11B TBL1XR1 CTBP1 LIFR AMACR PEX12 RPS23 NGLY1 SLC18A3 ARL3 SEMA3E BCOR CDK10 PEX16 EHMT1 UBR1 TCF12 DOK7 SHOC2 LETM1 PIEZO2 WAC LMX1B CCBE1 HRAS VPS13B NUP107 PEX2 ATP6V1B2 PEX19 ASXL3 BRD4 ASXL1 SETBP1 DLK1 NBAS ADAMTSL1 MTX2 MUSK TCF4 RIN2 TBX4 PACS1 GATA1 VPS33A CREBBP TNNT3 RIPK4 MAP2K1 IFT57 TNNI2 B4GALT7 IGF1 PUF60 ZNF462 KATNB1 SMC1A KCNN3 STAG1 ESCO2 OFD1 DDX11 FLNA RAPSN GLE1 ZNF292 TSEN15 CDK19 KCNH1 CHST3 BRF1 B3GLCT PNPLA6 TWIST1 SLC39A13 NECTIN1 TSEN54 NAA10 PLOD3 CEP57 EP300 G6PC3 TSEN34 SMARCAD1 KAT6B HP_ERYTHRODERMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERYTHRODERMA KRT10 CERS3 IL7R RAG1 AP1B1 KRT1 ALOX12B STX11 SDR9C7 DCLRE1C SPINK5 CD247 MPLKIP GTF2E2 ERCC2 UNC13D MPDU1 ALOXE3 CARD14 ERCC3 GJB3 NIPAL4 LIPN CHD7 CTLA4 RAG2 ADAM17 ABCA12 PRF1 TGM1 CD3E CD28 EXTL3 LSS FOXP3 STXBP2 ADA TNFRSF1B CYP4F22 PNPLA1 EBP GJB2 SLC27A4 SULT2B1 LIG4 TARS1 DSG1 CD3D GTF2H5 RMRP RNF113A KIT MBTPS2 IL2RG IL2RA HP_ALBINISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALBINISM HPS1 TYRP1 HPS4 TYR MC1R AP3B1 HPS5 CACNA1F BLOC1S5 LRMDA DTNBP1 HPS6 SLC45A2 EDNRB EPG5 BLOC1S3 OCA2 MITF AP3D1 HP_URTICARIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URTICARIA SF3B4 ERCC3 CASP10 ALPK1 ERCC5 IL12A NLRP3 MYD88 HLA-DQB1 ALDH3A2 SDHC MMEL1 WIPF1 PLCG2 RASGRP1 NLRC4 TNPO3 SPINK5 GJB6 KIT SERPING1 WAS CBS CARMIL2 TNFSF15 FOXP3 MBTPS2 IRF5 CBL FAS ANTXR2 PRKCD ERCC2 HLA-DRB1 RUNX1 SDHB SRSF2 NLRP12 FASLG IL12RB1 POU2AF1 ELOVL4 TET2 GJB2 ADGRE2 SLC27A4 PIGT MVK RAC2 SPIB ASXL1 ERCC4 HP_PENETRATING_FOOT_ULCERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PENETRATING_FOOT_ULCERS ATL3 F12 ATL1 SPTLC2 SPTLC1 HP_SOFT_DOUGHY_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOFT_DOUGHY_SKIN COL5A1 IARS1 XYLT1 COL1A2 COL1A1 COL5A2 B3GALT6 MGP ADAMTS2 SLC2A10 SON HP_POIKILODERMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POIKILODERMA ERCC3 RECQL4 ERCC2 ERCC5 ERCC4 XPC ANAPC1 BLM USB1 CTLA4 FAM111B COL7A1 XPA DDB2 POLH CD28 FERMT1 TNFRSF1B ERCC6 MTX2 HP_FRAGILE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRAGILE_SKIN JUP KRT14 PLEC KRT5 COL1A1 COL7A1 ITGB4 UROD UROS COL5A1 HFE ADAMTS2 ITGA3 COL17A1 EXPH5 MMP1 LAMB3 PLOD1 GATA1 COL5A2 CPOX ITGA6 LAMC2 COL3A1 COL1A2 PDGFRB B3GALT6 LAMA3 PRKACA FERMT1 DSP C1S PKP1 CHST14 HP_SUBCUTANEOUS_LIPOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBCUTANEOUS_LIPOMA PTEN AKT1 MEN1 CDKN1B PIK3CA FGFR1 BMPR1A HP_ABSENT_DISTAL_INTERPHALANGEAL_CREASES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_DISTAL_INTERPHALANGEAL_CREASES IHH NOG LMX1B HOXD13 RBBP8 TPM2 HP_PARAKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARAKERATOSIS KRT5 KRT13 POMP CARD14 NLRP1 TRPM4 MVK RHBDF2 TGM1 CLDN1 PERP PIK3CA LORICRIN DSP MVD PMVK TRPV3 NIPAL4 FLG2 IL36RN CYP4F22 SPINK5 MBTPS2 NSDHL LDHA HP_FACIAL_ERYTHEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_ERYTHEMA KCNQ2 RECQL4 MBTPS2 ANAPC1 USP8 ADGRE2 RHOH AIP HP_VITILIGO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VITILIGO DCLRE1C FOXD3 MT-TS1 MT-TS2 MT-TQ MT-CO3 ACP5 MT-TL1 KANSL1 FAS AIRE PLCG2 MT-ND6 NBN CAT MT-CO1 SLX4 MT-ND1 MT-TW KITLG LRBA DSTYK NLRP1 MT-ND5 PTPN22 EMC1 CXCR4 MT-TH MT-ND4 POGZ MT-TF MT-CO2 HP_INTERMITTENT_JAUNDICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERMITTENT_JAUNDICE SLC4A1 KCNN4 PIEZO1 SPTB ABCB11 ATP8B1 RHAG SLCO1B3 SLCO1B1 HP_ATOPIC_DERMATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATOPIC_DERMATITIS RRAS2 BRAF NEK9 KRT1 HSPA9 IFIH1 DOCK8 SCNN1A MORC2 CARD11 JAK1 ZNF341 FOXN1 CFTR LRRC32 PGM3 SCNN1G SCNN1B IL6R HP_CAVERNOUS_HEMANGIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAVERNOUS_HEMANGIOMA PIK3CA BRAF SDHC SDHB ENG KRAS GNPTAB RYR1 TEK PTEN NRAS DNM2 BIN1 GDF2 SEC23B HOXD13 MAP2K1 CCM2 USF3 SDHD MYF6 AKT1 HRAS NOTCH1 MTMR14 ACVRL1 MTM1 MAP2K2 KLLN SMAD4 HP_SEBORRHEIC_DERMATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEBORRHEIC_DERMATITIS TBX1 SEC24C TKT TRAF3IP2 HPGD PIGA BTD ARVCF COMT SLCO2A1 PIK3CA ZNF750 JMJD1C CIB1 UFD1 TMC8 CARMIL2 RREB1 C5 MCCC2 RBM8A HIRA GP1BB TMC6 IL7 HP_HYPOPIGMENTED_SKIN_PATCHES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPIGMENTED_SKIN_PATCHES SEC24C NRAS ABCB6 IRF5 MAFB ERF COMT KRT14 PTEN HCCS JMJD1C BRCA2 HLA-DRB1 EBP ERCC5 FANCE TERT KIAA0319L CAV1 TERC EDNRB SNAI2 CRIPT SOX10 FANCI IL7 NHP2 SLX4 FANCA FAS NDUFB11 FGFR2 FGFR3 CIB1 UBE2A FANCL KITLG FERMT1 PAX3 SDHD PTPN22 SALL4 HIRA RFWD3 BLM TMC6 TWIST2 ERCC4 KLLN PIK3CA TBX1 KRT5 MTOR MITF SDHC TCF4 SDHB XRCC2 FANCB GALC UFD1 PARN SEC23B RTEL1 CCR6 CD28 TNFRSF1B DKC1 ERCC3 NOP10 KIT XPA WRAP53 ACP5 USB1 GP1BB CLTRN FANCF IKBKG FANCC TINF2 BTK ERCC2 ARVCF XPC EDN3 CTC1 UBE2T CTLA4 FANCG NPM1 CTSC DDB2 COX7B RAD51 TMC8 PCNT RREB1 BRCA1 USF3 ANTXR1 SLC6A19 CCN2 PSAP AKT1 BRIP1 FANCD2 MC1R AIRE SMO TYR FANCM PALB2 CHN1 MAD2L2 RAD51C HP_NUMEROUS_NEVI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NUMEROUS_NEVI BRAF PCGF2 CDK4 FGFR3 HRAS KANSL1 PIK3CA NRAS STK11 HP_ERYSIPELAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERYSIPELAS VEGFC MEFV FLT4 GJC2 CCBE1 TNFRSF1A KIF11 ADAMTS3 FAM111B FAT4 HP_MILIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MILIA PTCH2 KRT14 PLEC LAMC2 KRT5 ITGB4 LAMB3 COL7A1 SUFU CYLD MMP1 LAMA3 OFD1 FERMT1 COL17A1 ITGA6 PPOX PTCH1 SMARCAD1 HP_APLASIA_CUTIS_CONGENITA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_CUTIS_CONGENITA NSD2 PLEC LAMC2 ARHGAP31 CTBP1 ALX4 KRT14 ITGB4 RBPJ EOGT DLL4 COX7B ALG9 DSP LAMA3 COL7A1 BMS1 LAMB3 DOCK6 CPLX1 ITGA6 UBR1 MSX2 MCTP2 LETM1 COL17A1 KRAS TFAP2A FGFRL1 KRT5 NOTCH1 MMP1 HSPA9 NELFA TAF1 ATP6V1B2 KCTD1 PIGG HP_POOR_WOUND_HEALING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_WOUND_HEALING C1R COL1A1 USP8 F8 NTRK1 DDR2 AIP HELLPAR COL5A1 COL12A1 ATL1 RAC2 SPTLC2 CFI F13B COL1A2 PLOD1 COL5A2 ITGB2 GBA SPTLC1 NGF ATL3 F13A1 SERPINE1 CFH CD46 HP_PTERYGIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PTERYGIUM PLEC LMX1B MUSK ITGB4 NOP10 SLC18A3 MYH3 PHGDH ERCC5 RIPK4 GPC6 ERCC3 BHLHA9 ITGA6 NUP88 CHRNG EFNB1 DOK7 XPA NHP2 CHRND FKBP10 HSPG2 RAPSN IRF6 CHRNA1 DKC1 ERCC4 PLOD2 ERCC2 XPC PITX1 MYOD1 DDB2 PSAT1 MMP2 CHUK MMP14 HP_AXILLARY_PTERYGIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AXILLARY_PTERYGIUM PLEC RIPK4 ITGA6 GPC6 CHRNG EFNB1 ITGB4 MYH3 CHUK HP_ACNE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACNE PSENEN XIAP TBX1 SEC24C ENPP1 PSTPIP1 UBAC2 SH3PXD2B COMT KRT5 IL10 FGFR2 RBP4 SLCO2A1 IL23R IL12A JMJD1C UFD1 WNT4 POGLUT1 HYOU1 MEFV GPR101 ABCC6 NR3C1 CCR1 KLRC4 STAT4 CYP11B1 IL12A-AS1 GP1BB NCSTN MEIS2 C4A LHCGR ECM1 XYLT1 FAS HPGD ARVCF AGA HLA-B USP8 AIP ESR1 PRKACA ERAP1 POFUT1 PSEN1 H6PD RREB1 CDH23 IKBKB HIRA TLR4 LPIN2 KDF1 AR PAPSS2 HP_STRIAE_DISTENSAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STRIAE_DISTENSAE COL5A1 COL1A1 ENPP1 USP8 SMAD3 PDE11A PRKAR1A AIP FBN1 SPEN COPB1 PRKACA DLG4 COL5A2 TP53 PDE8B TGFBR2 ABCC6 TGFBR1 TGFB2 GNAS CUL4B HP_NEUROFIBROMAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUROFIBROMAS TRAF7 NF1 PDGFB LRP1 BAP1 SDHB TERT SDHC SPRED1 PIK3CA NF2 SMARCE1 SUFU SMARCB1 SMO MLH1 KIT SPTBN1 AKT1 HP_EPISODIC_HYPERHIDROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISODIC_HYPERHIDROSIS EPAS1 SDHA SDHD MAX FH SDHC ABCC8 ALDOB VHL RETREG1 TMEM127 KIF1A SDHB WNK1 DNMT3A SLC25A11 KIF1B RET SDHAF2 HNF1A DLST ELP1 KCNJ11 UCP2 NF1 SCN9A MDH2 HP_MOTTLED_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTTLED_PIGMENTATION ZMPSTE24 KRT14 KRT5 RECQL4 HPGD LMNA RDH11 DUOX2 HP_THICKENED_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICKENED_SKIN PSENEN PPARG ERCC3 PPCS RAG1 NRAS PIGA LEMD3 TGM1 WNT10A SH3PXD2B UROS ERF ITGB6 KRAS WRN SEMA3A LMNA TNNI3 RSPO1 KRT6B HPGD GJB6 TERT TARS1 EBP FOS ABHD5 MVD MBTPS2 GPR101 ANOS1 PLN GJB3 DNAJC21 TNNT2 COL17A1 SLURP1 SMAD4 DOLK LIPE TMPO CDH3 ANTXR2 ECM1 KRT1 INSR CAVIN1 DCLRE1C BRAF NHP2 AGPAT2 FKTN GJA1 SGPL1 TRPV3 ATP2A2 TP63 NIPAL4 GJB2 SERPINB8 NECTIN1 SPTLC2 AKT1 SUMF1 AIP ANKRD1 FGF8 SOX18 LBR ADAMTS10 PTEN KDF1 MAP2K2 KLLN COL7A1 CLEC7A CWC27 SREBF1 NF1 ITGB4 SDHC IL7R TACR3 MYH7 LARP7 CCDC141 TUBB CAST ENPP1 HFE MYH6 PARN SLC45A2 KANK2 VEGFC KRT83 ABCC9 DKC1 PSEN1 PEX3 TYR TGM5 ALMS1 SLC17A9 TNNC1 AHSG PEX7 TPM1 ERCC2 SRD5A3 LAMA4 KRT5 LRP1 TINF2 ERCC4 ELOVL4 COL12A1 ACTN2 DSP AKT2 PPOX CTLA4 UROD DSG1 TAT FBN1 PROK2 PEX2 NAGA KRT10 FLT4 HESX1 MMP2 FKBP14 PEX6 GBA FGFR2 POLA1 GTF2H5 ALOXE3 PEX5 RECQL4 SNAP29 CARD14 KRT2 KRT14 FGFR3 ANAPC1 PSAT1 GJB4 KDSR MC4R ERCC5 MPLKIP LORICRIN BSCL2 LAMA3 KRT17 IL1RN SMARCAD1 MYPN NECTIN4 SHOC2 SLC29A3 TRAF3IP2 ATP7A IL17RC NOTCH2 RYR1 NSDHL ABCA12 HRAS SASH1 MVK FLRT3 DPAGT1 AFF4 PIK3CA USB1 ZNF750 KRT9 NOD2 PSMB9 SULT2B1 ESR1 SLCO2A1 CSTA RAG2 SRP54 MTX2 GJC2 SDHD PLOD1 KANSL1 PSMB8 PKP1 COL6A1 SGCD KRT86 LAMC2 ST14 POMP TRAPPC11 SDR9C7 AP1S1 PHGDH EXPH5 IKBKG GTF2E2 XRCC4 GMPPA FERMT1 MAP2K1 SDHA ZMPSTE24 LIPN PMVK ERMARD CSRP3 PEX12 IL36RN COL6A3 TCAP ACTC1 COG6 LSS PEX16 CRYAB CYP4F22 POGLUT1 CTC1 RAF1 CLDN1 FEZF1 SLC27A4 MYBPC3 LIG4 COPB1 POFUT1 TTC7A LDB3 LZTR1 SPTLC1 COL6A2 DSC3 PAH SPRY4 LTBP3 STS STIM1 BAG3 FDPS CERS3 NLRP3 HS6ST1 VIPAS39 ALDH3A2 KIF11 HLA-DRA SPINK5 ADAM10 TRIP4 DSG4 ELMO2 TERC AAGAB CTSC GLB1 PROKR2 PEX26 FITM2 COL1A1 TMPRSS6 PLEC TXNRD2 PERP NLRP1 KRT6C TMEM43 LAMB3 TAF1A NEXN VCL SBDS MT-TS1 IDUA CHD7 RBM20 TRPM4 KLHL24 RNF113A PEPD SOX10 PIGL PRDM16 PLIN1 AQP5 CUL4B GLA PEX10 CAV1 NSMCE2 CHKB DUSP6 CAP2 ZC4H2 IL2RB POMC PDGFB FGF17 LTBP2 PKDCC MPDU1 CARMIL2 TNFRSF1B KITLG GATA1 NOP10 XPA KRT16 ATL3 GATAD1 AP1B1 GRHL2 HDAC6 KRT13 SYNE2 CD28 PEX14 IL17RA XPC PNPLA1 FUCA1 AAAS EFL1 PSMB4 NPM1 IL17F DDB2 ATP2C1 GINS1 HSD11B1 USF3 PEX13 SLC12A3 DSG2 JUP FGFR1 ADAMTSL2 VPS33B PEX19 GNPTAB ALOX12B CLCNKB MCOLN1 SMARCD2 DIP2B RHBDF2 DES KIT ARSL IL17RD SYNE1 PEX1 DCC POLD1 COL14A1 TAFAZZIN PHYH FHL2 CIDEC DDR2 SCN5A SERPINB7 MSMO1 CYP19A1 GLS DDX58 NEK9 IL2RG SERPINA12 ORAI1 PEX11B KRT81 SDHB DMD NDNF RIN2 POLR3A ADAMTS2 HAND2 ATL1 VPS33A RNU4ATAC SEC23B WDR11 COL4A5 RTEL1 ELOVL1 FHL1 FLG WRAP53 PSEN2 FLG2 NEU1 LDHA KRT6A ADA MAPRE2 TTN RMRP DSC2 ASPRV1 CFTR PDGFRB EMD PCSK1 RIT1 HP_CIGARETTE_PAPER_SCARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CIGARETTE_PAPER_SCARS COL3A1 COL1A1 COL5A2 COL12A1 COL6A2 COL5A1 SLC39A13 COL6A3 CTSC COL6A1 HP_ATROPHIC_SCARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATROPHIC_SCARS KRT14 PLEC LAMC2 C1R COL1A1 KRT5 LAMB3 B3GALT6 COL7A1 ITGB4 COL12A1 COL5A1 MMP1 LAMA3 ADA2 COL1A2 CARMIL2 PLOD1 COL5A2 B4GALT7 COL17A1 C1S ITGA6 COL3A1 AEBP1 COL6A3 DSE LRP1 DST SMAD3 CHST14 CTSC FKBP14 COL6A2 SLC39A13 COL6A1 HP_BILIARY_TRACT_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILIARY_TRACT_ABNORMALITY PHKG2 CEACAM6 HFE RNF43 CTBP1 IL12A AMACR ARSA SERPINA1 STX1A CLDN1 GATA6 GBA ARL6 PEX1 TNPO3 KIF3B ESCO2 NPHP3 ABCC2 GSTM3 WDR35 DCDC2 HNF1B PKHD1 CEP290 LETM1 AKR1D1 TMEM216 NSD2 TGFB1 LONP1 RFXANK INPP5E ABCB4 ZIC3 ITCH RPGRIP1L RFXAP IL12RB1 JAG1 STK11 UGT1A1 CCDC28B GPR35 HMOX1 RFX5 TMEM67 RFX6 IL21R SLC6A14 BCS1L PSAP CFTR CIITA PEX2 LMNA CC2D2A FARSB HSD17B4 MICOS13 TCF4 MKS1 MIF GCLC MMEL1 CLCA4 DZIP1L BBS1 PEX5 POLG SLC26A9 MST1 TNFSF15 LBR FCGR2A IRF5 CYP7B1 USP9X IL36RN FGFRL1 CEACAM3 SLC11A1 LMBRD1 CPLX1 SLC9A3 SEMA4D GCGR POU2AF1 B3GLCT KCNN4 ERCC4 PTPN3 TTC7A SCARB2 SPIB CD40LG DCTN4 HSD3B7 EDNRA HP_CHOLECYSTITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOLECYSTITIS ATP8B1 JAK2 PSAP ENG BPGM ARSA PNPLA2 PKLR ABCB4 MECP2 GPI GDF2 F5 TPI1 NR1H4 ABCB11 ALDOA ACVRL1 HK1 SMAD4 HP_ECTOPIA_LENTIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTOPIA_LENTIS C12orf57 CHRDL1 ADAMTSL4 SF3B1 PAX6 BAP1 COL5A1 FBN2 PAX2 LTBP2 P3H2 SUOX TAP1 HSPG2 CBS CPAMD8 PORCN GNA11 FBN1 TAPBP COL2A1 ADAMTS17 NDP BCOR TAP2 ADAMTS10 WT1 CYSLTR2 COL11A1 PCYT1A ASPH COL18A1 GNAQ MOCS2 B3GALT6 AASS MOCS1 LOXL1 SALL2 HP_PAPILLEDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAPILLEDEMA PALS1 JARID2 MYT1L PDGFB APC KMT2E FAM111A CCDC32 HUWE1 KAT8 DPYSL5 TERT HS2ST1 BPTF ZMIZ1 BAP1 PUS7 DDX6 PTPN23 MED13 UBR7 WASF1 NTNG1 IDS SMARCB1 NTNG2 GBA WDFY3 UQCRFS1 ZIC1 DOCK3 AKT1 SOST TRAF7 RLIM ACTL6A MAPK8IP3 TRIP12 HPDL CTNNB1 SLC12A2 SVBP TANC2 HTT PIK3CA MED27 NF2 BCORL1 SMARCE1 GRIA4 SUFU KDM4B TNRC6B PSMD12 TRMT1 CNOT3 NLRP3 TRAPPC4 ACTL6B KCNMA1 SATB1 FBXW11 AGO2 VHL MMP2 TCF20 TP53 BRAF SMO MADD IL11RA MMP14 HP_DEVELOPMENTAL_GLAUCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVELOPMENTAL_GLAUCOMA RPS28 RPL11 FLNA FOXC1 AKT1 PXDN PITX2 RPS15A B3GAT3 RPL27 RNASEH2C MAFA ADA2 GNAQ RPL18 FOXE3 RPS20 RPL5 PTEN PAX6 CYP1B1 RPL31 DAG1 RNASEH2B FKTN RNASEH2A POMT1 RPL35 LTBP2 TREX1 MAB21L1 RPL35A SH3PXD2B FKRP GLIS3 FUT8 LMX1B NCAPG2 RPS29 RPS10 RPS19 GATA1 RPS26 ATOH7 CHST3 RPL26 RPL15 POMGNT1 TEK TSR2 IFIH1 SRY SAMHD1 POMT2 CANT1 RPS7 ADAR FGFR2 TWIST1 RPS17 OCRL RPS27 LARGE1 RPS24 PYCR1 ADAMTSL1 HP_BRUSHFIELD_SPOTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRUSHFIELD_SPOTS PEX19 PEX5 PEX6 PEX2 PEX14 PEX3 PEX26 PEX11B PEX13 PEX16 PEX10 GATA1 PEX12 PEX1 HP_IRIS_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRIS_ATROPHY ZEB2 OVOL2 ASPH LRP5 C1QTNF5 COQ2 HP_ABNORMALLY_LARGE_GLOBE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALLY_LARGE_GLOBE ATR WDR26 AKT1 PXDN ATOH7 KCNJ6 ALKBH8 B3GAT3 KCNJ1 CHST3 FGFR2 ARX GNAQ FBN1 POMGNT1 PTEN POMT2 CHSY1 CYP1B1 LRPAP1 MTX2 DAG1 FKTN CPSF1 POMT1 POMK TWIST1 CASK OCRL MAB21L1 LARGE1 SH3PXD2B PIGV PIK3R2 FKRP GLIS3 FUT8 ADAMTSL1 NCAPG2 HP_ABSENT_LACRIMAL_PUNCTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_LACRIMAL_PUNCTUM FGFR3 FGF10 UBR1 TP63 FGFR2 HP_OPTIC_NERVE_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_NERVE_DYSPLASIA PEX5 PAX2 BRAF B4GAT1 KIDINS220 PEX2 CPAMD8 HP_IRIDOCYCLITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRIDOCYCLITIS AIRE PTPN2 IL2RB IL2RA ANKRD55 STUB1 PTPN22 NOD2 CD247 HLA-DRB1 STAT4 HP_KERATOCONJUNCTIVITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KERATOCONJUNCTIVITIS MPLKIP SREBF1 IARS2 UBAC2 UROS IL10 ERCC6 IL23R IL12A GTF2E2 ERCC2 GATA1 GJB2 MEFV ERCC3 CCR1 FGFR2 KLRC4 STAT4 MAB21L1 ERCC8 IL12A-AS1 C4A HLA-DRB1 FAS FBN1 RNF125 NOD2 MTTP BTNL2 HLA-B AIRE NLRP1 GSN UROD HLCS FGFR3 ERAP1 AEBP1 TARS1 LBR RNF113A GTF2H5 TLR4 SCN9A COL17A1 FGF10 HP_HETEROCHROMIA_IRIDIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HETEROCHROMIA_IRIDIS SNAI2 MITF LMX1B AKT1 ACTB MAFB PTEN KIT ELP1 PNPLA6 GNAQ EDN3 SOX10 ACTG1 OCA2 EDNRB KITLG PAX3 MC1R SALL4 TYR CHN1 HP_ANGIOID_STREAKS_OF_THE_FUNDUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANGIOID_STREAKS_OF_THE_FUNDUS XYLT1 TNFRSF11B ABCC6 ENPP1 GALNT3 PIK3CA XYLT2 GGCX AKT1 PTEN HP_ABNORMAL_MACULAR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MACULAR_MORPHOLOGY MAF ZNF408 ARL2BP BEST1 ALDH3A2 GUCY2D GUCA1B AGXT PDE6G LRP5 CLDN19 MT-TK WDR19 CFI PRPH2 REEP6 CDH3 IDS PAX6 HMX1 RPE65 ABCC6 ZFYVE26 SYCE1 BLOC1S3 GDF6 MERTK ATXN7 GNAT2 OPN1LW CFHR3 TREX1 LRAT CHST6 HPS4 MC1R IMPG1 RNF113A TIMP3 VHL SLC24A5 OCA2 EFEMP1 NDP PDE6H CACNA1F COG1 RP9 RBP4 MAPKAPK3 MT-TL1 TMCO1 RP1L1 SLC45A2 CNGA3 AIPL1 LCA5 PROM1 ARHGEF18 APOE NRL TYR TRNT1 ERCC3 FZD4 RAB28 WT1 OAT COL18A1 CFAP418 ERCC2 NOD2 PDE6C DPYD DPM1 SCAPER MT-TE ABCA4 CRX CFH ATF6 GUCA1A TNFRSF11B SOX10 KCNV2 MPDZ NEU1 FBLN5 MFSD8 RAX2 MFRP GTF2H5 RLBP1 DCT CTNNA1 ANO10 CCNQ ARL3 ENPP1 IMPG2 DHDDS CFHR1 PRPF31 MYO5A HK1 RD3 PRPS1 NR2E3 MPLKIP GRK1 HMCN1 NF2 SLC6A6 MMACHC ADAR HLA-A TRAF3IP1 SLC38A8 CLN3 VPS13B SAG RPGR GPR143 FBN2 MITF ELOVL4 IDH3A LYST PCYT1A PEX1 TARS1 PRCD NMNAT1 SEMA4A RIMS1 PPT1 SIX6 APC C1QTNF5 RPGRIP1 UGP2 CNGB1 GBA XYLT2 CTNNB1 RS1 SPATA7 PAX2 TTC8 GDF3 CYP4V2 POMGNT1 IKBKG GTF2E2 IFT74 CNGB3 HPS5 PITPNM3 YARS1 DHX38 PLK4 EDNRB PRPF8 TSPAN12 XYLT1 RDH5 KIAA1549 LZTFL1 CEP78 FOXC1 DRAM2 EDN3 SPG11 FBLN1 TRIM44 RHO SMPD1 CST3 BBS5 OPN1MW SH3BP2 ASAH1 BLOC1S5 HPS6 CP EPG5 IFT140 HP_MACULAR_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULAR_HYPOPLASIA HMX1 MAF HPS6 LYST DPYD SLC45A2 MPDZ PAX6 COL18A1 HP_RETINAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_ATROPHY PALS1 JARID2 MYT1L KMT2E CCDC32 ARL2BP ABCA4 CFHR1 PRPF31 ZMIZ1 RDH11 HK1 GUCY2D WASF1 NTNG1 HMCN1 SLC6A6 MIR204 WDR19 CFI WDFY3 HLA-A ERCC8 REEP6 TUB GUCA1A CDHR1 INPP5E RPGR TRIP12 SLC12A2 RPE65 SVBP IMPG2 PROM1 ELOVL4 TANC2 IDH3A MED27 MERTK GRIA4 GNAT2 TOPORS CFHR3 LRAT IMPDH1 POMT2 LAMA1 CNOT3 ACTL6B KCNMA1 TCF20 SNRNP200 EFEMP1 RIMS1 SIX6 C1QTNF5 RLBP1 HUWE1 KAT8 DPYSL5 PDE6H HS2ST1 TIMP3 BPTF GBA RP9 ERCC6 RBP4 RS1 MAPKAPK3 HGSNAT SPATA7 ALDH3A2 PUS7 DDX6 PTPN23 BEST1 CFH CYP4V2 SLC7A14 MED13 UBR7 CNGA3 AIPL1 LCA5 APOE CNGB3 NRL TRNT1 NTNG2 FKTN ALMS1 POMT1 YARS1 CFAP418 STUB1 PRPH2 FKRP DHX38 PCYT1A PLK4 DOCK3 RDH5 RLIM PDE6C KIAA1549 ACTL6A LZTFL1 CEP78 MAPK8IP3 HPDL ASXL1 CTSD DRAM2 ARSG CRX HTT POMGNT1 BCORL1 RHO ATF6 KDM4B TNFRSF11B SH3BP2 TNRC6B PSMD12 KCNV2 TRMT1 TRAPPC4 RAX2 SATB1 MFRP FBXW11 AGO2 LARGE1 VCAN IFT140 MADD NMNAT1 HP_OCULAR_ALBINISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCULAR_ALBINISM BLOC1S6 HPS1 KCNAB2 GPR143 SPEN AP3B1 DTNBP1 RERE PRKCZ HSPG2 SOX10 LYST EPG5 BLOC1S3 UBE4B AP3D1 SLC45A2 CASZ1 HPS4 PRDM16 TYR MMP23B HPS5 BLOC1S5 HPS6 GABRD PDPN SKI LUZP1 HP_LEBER_OPTIC_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEBER_OPTIC_ATROPHY MT-CO3 MT-ND2 MT-ND5 MT-ND6 MT-ND4L MT-ATP6 MT-ND1 MT-ND4 PRICKLE3 MT-CYB HP_XANTHELASMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_XANTHELASMA TTPA CYP27A1 GHR APOE G6PC1 LDLR PPP1R17 SLC37A4 PCSK9 APOA2 APOB EPHX2 LPL HP_POSTERIOR_POLAR_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_POLAR_CATARACT APC BBS2 EPHA2 ZBTB20 ITM2B VIM PITX3 CRYAB HP_MACULAR_COLOBOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULAR_COLOBOMA LCA5 LRAT SPATA7 CLDN19 MMACHC PRPS1 DHX38 NMNAT1 RPE65 HP_SUDDEN_LOSS_OF_VISUAL_ACUITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUDDEN_LOSS_OF_VISUAL_ACUITY MEN1 CDH23 AIP BRAF CTNNB1 HP_JUVENILE_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JUVENILE_CATARACT ADNP NACC1 ANAPC1 MECP2 RECQL4 RDH11 FAR1 CYP27A1 TGM3 LEMD2 SPTBN1 HP_ABNORMALITY_OF_CORNEAL_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CORNEAL_SIZE NSD2 MAF FOXL2 TFAP2A GTF2I KIF11 HDAC8 B3GALT6 MAFB BCOR POMT2 TMEM231 GTF2IRD1 RAI1 FKRP DEAF1 RAB3GAP1 EBP SC5D RAB23 FLII RAB3GAP2 TCTN3 GORAB BEST1 RSPO2 TENM3 MED25 ERCC8 PPP2CA POMK HMX1 ARL2 DAG1 CENPF ATOH7 TCTN1 ACTB CRYAA RAB18 LARGE1 BMP4 NELFA PYCR1 ZEB2 SLC16A12 TBC1D20 CSPP1 ACTG1 PITX2 ADAMTS18 WNT3 RNF113A METTL27 NIPBL TBL2 GJA1 CRYGD CHST14 PRSS56 COL11A1 TUBB CTBP1 TBX15 RBP4 KCNMA1 UBE3B HSPG2 SALL4 PLOD1 ERCC3 CTCF COL4A1 SH3PXD2B ERCC2 RPGRIP1L POMGNT2 TMEM67 NCF1 DPYD RFC2 B9D1 PAX6 ANK1 POMT1 DNAJC30 B3GLCT POMGNT1 MAB21L2 FKBP14 BCL7B GTF2H5 TXNDC15 PIGG B4GAT1 CHN1 RAD21 GTF2E2 TMEM237 CHRDL1 TBL1XR1 TMEM107 LMX1B PXDN CRYBA4 MAPRE2 CLIP2 RECQL4 MPLKIP ABHD11 CRYBB1 CPLX1 ELN KRAS RPGRIP1 TBX22 KMT2D EIF4H LAT2 CTDP1 OTX2 STX1A CRYGC FKTN B9D2 CRPPA JAG1 CDH11 NHS GJA8 BRD4 TARS1 TEK BUD23 PITX3 MIR184 MKS1 FBN1 LIMK1 IQSEC2 CLDN3 PIK3R1 BAZ1B TMEM216 FGF3 B3GALNT2 FGFR2 GNPTAB ERCC6 TINF2 LTBP2 CRYBB2 CC2D2A SMC3 NAA10 FOXE3 SMC1A FLI1 GTF2IRD2 PLK4 KDM6A KIFBP GMPPB FKBP6 LETM1 CLDN4 VPS37D FGD1 MLXIPL MT-CYB PRDM5 TCTN2 TMEM270 RXYLT1 FANCB HMGB3 CEP290 HP_VISUAL_FIELD_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VISUAL_FIELD_DEFECT OPA1 BMPR1A ABCA4 MLH1 COL3A1 BEST1 PTPN22 CYP4V2 MT-ATP6 MT-CO2 ADGRV1 RBP3 C1QTNF5 TCF12 MT-TV KRAS ENG CFI OPA3 CRX PDE6G ADA2 IDS AKT1 USH2A PIK3CA TGFBR2 RTN4IP1 PEX26 MT-ND6 MT-ND4L NDUFS2 BAP1 P4HA2 CHM PMS2 RPE65 MTRFR IMPG2 FLVCR1 AIP MYO7A CEP78 GNAT2 MLH3 FGFR3 ROM1 LRAT MSH2 BRAF MSX2 EFEMP1 SH3TC2 CWC27 CACNA1A SLC25A46 PEX10 PDGFB SCN1A ZNF408 PDE6H TIMP3 MEN1 RP9 MT-CO3 RP1 SEMA4A MT-ND5 USH1C HLA-DRB1 CNGA3 LCA5 BBS2 ARHGEF18 RPS20 CDH23 PEX3 PDZD7 IBA57 TRNT1 CLRN1 POC1B RAB28 ALMS1 OAT MT-TW CLCN2 COL4A1 COL18A1 CFAP418 PRPH2 MT-ND1 THSD1 MT-TQ TRAF7 PDE6C CACNA2D4 FA2H GPR101 PEX14 IDH3B TWIST1 ASB10 TGFBR3 AIRE SUFU ATF6 RHO PEX2 TREX1 ARSG ZIC1 MT-TC KCNV2 PEX6 RNU4ATAC PDE6A MFSD8 PROM1 ATP1A2 PEX13 RGR RLBP1 VCAN WHRN PRPF3 PEX5 KIZ MT-CO1 ARL3 MT-CYB PEX19 TUBB2B MT-TL1 PRPF31 AIPL1 RDH11 HK1 MYOC TIMM8A KIF3B EYS CERKL ESPN MT-TF SLC6A6 SMARCB1 MPL DNM1L ARL6 MT-ND2 ANGPTL6 PCDH15 HLA-A CNGA1 CYP1B1 PEX1 MSH6 ITM2B CDHR1 GUCY2D RPGR CTNNB1 ELOVL4 MT-TK IDH3A MMP19 NF2 SMARCE1 TOPORS TULP1 IMPDH1 EPCAM SDHA AKT3 FXN HLA-B MT-ND4 MFN2 HARS1 MT-TS1 DNAJC30 SMO PEX11B CACNA1F FDXR NR2F1 TERT MAK FAM161A CNGB1 HGSNAT SPATA7 JAK2 CFH SLC7A14 PMS1 AGBL5 THPO POMGNT1 CNGB3 TMEM126A FAN1 YARS1 PEX12 SETD5 ACO2 IMPG1 PRPF8 RDH5 PEX16 ZNF513 POU3F4 SOST CIB2 MTTP GNAQ DLAT SH3BP2 MT-TS2 USH1G PRRT2 CFAP410 RP2 BTD HP_CRYPTOPHTHALMOS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRYPTOPHTHALMOS FRAS1 FREM2 GRIP1 TWIST2 FREM1 HP_CORNEAL_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORNEAL_DYSTROPHY CHRDL1 PRDM5 GLA TGFBI CRYBA4 SLC4A11 COL8A2 CYP4V2 DCN CRYBB2 CRYBB1 EXOSC2 AGBL1 MBTPS2 GSN ZEB1 AGK MAF TKFC SLC25A4 OPN1LW CRYAA CRYGC TRIM37 GNAQ ZNF469 KRT12 OPN1MW PIKFYVE GJA8 CHST6 UBIAD1 TACSTD2 OSMR COL17A1 CRYGD HP_LENS_SUBLUXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LENS_SUBLUXATION CHRDL1 SF3B1 SALL2 BAP1 CYSLTR2 GNAQ CBS COL2A1 P3H2 PCYT1A LOXL1 GNA11 HP_CONSTRICTION_OF_PERIPHERAL_VISUAL_FIELD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONSTRICTION_OF_PERIPHERAL_VISUAL_FIELD OPA1 ARL3 PEX19 ABCA4 PRPF31 AIPL1 RDH11 HK1 CYP4V2 MT-ATP6 MYOC RBP3 KIF3B EYS CERKL LRAT SLC6A6 ARL6 CNGA1 CYP1B1 PEX1 CRX PDE6G IDS CDHR1 GUCY2D PEX26 CHM RPE65 ROM1 IDH3A TIMM8A TULP1 IMPDH1 SDHA SEMA4A CFAP418 PEX11B SH3TC2 PEX10 ZNF408 FAM161A ALMS1 CNGB1 RP9 HGSNAT CWC27 SPATA7 RP1 AGBL5 POMGNT1 LCA5 BBS2 TMEM126A PEX3 POC1B OAT YARS1 PEX12 PROM1 PRPF8 RDH5 CLRN1 CACNA2D4 PEX16 ZNF513 POU3F4 SOST PEX14 IDH3B AIRE DLAT ARSG RHO PRPH2 PEX2 SH3BP2 PEX6 RNU4ATAC PDE6A PEX13 RGR RLBP1 RP2 PEX5 KIZ HP_CHORIORETINAL_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHORIORETINAL_DYSTROPHY VPS13B PNPLA6 UBE3B RNF216 CREBBP EP300 HP_RETINAL_ARTERIOLAR_TORTUOSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_ARTERIOLAR_TORTUOSITY TBX1 SEC24C BAZ1B NDP LAT2 STX1A NCF1 GTF2I RFC2 FKBP6 ARVCF COMT GTF2IRD1 CLDN4 DNAJC30 VPS37D JMJD1C CLIP2 ELN MT-ATP6 MLXIPL UFD1 ABHD11 COL4A1 FZD4 LRP5 BUD23 RREB1 TMEM270 METTL27 BCL7B TBL2 HIRA GTF2IRD2 LIMK1 GP1BB CLDN3 EIF4H HP_ALTERNATING_ESOTROPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALTERNATING_ESOTROPIA LMNB1 APC DPP6 SLC38A8 PPP2R5D CLCN6 COG8 HP_OPTIC_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_NEUROPATHY NDUFS4 NDUFS2 NDUFAF8 MT-ND3 NDUFAF3 NDUFAF4 NDUFS6 MYOC AGXT MTRFR NDUFS7 MT-ND5 LDLR NDUFA1 NDUFAF2 TXN2 NDUFV2 APOB TIMMDC1 MT-CO3 CLCN2 CYP1B1 ATN1 MT-ATP6 MT-ND1 FOXRED1 NUBPL CISD2 PCSK9 NDUFS3 NDUFS1 NDUFB11 MT-ND4L NDUFA6 NDUFA11 NDUFB10 ABCG5 MT-ND6 LDLRAP1 NDUFA13 NDUFV1 MT-CYB MT-ND2 NDUFB9 NDUFAF5 SH3BP2 ABCG8 TSFM HLA-DRB1 MT-ND4 NDUFS8 NDUFAF1 NDUFB3 GP1BA TMEM126B NOTCH3 CYP27A1 BTD HP_CHOROIDEREMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOROIDEREMIA BEST1 PRPH2 EPHA2 UBE3B POU3F4 IMPG2 CHM IMPG1 HP_LIMBAL_DERMOID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMBAL_DERMOID KRAS DACT1 PTEN SALL1 AKT1 FGFR1 HP_SEVERELY_REDUCED_VISUAL_ACUITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERELY_REDUCED_VISUAL_ACUITY PCYT1A TSPAN12 HPS1 ALG3 ZNF408 C1QTNF5 ZNF513 NMNAT1 KCNJ13 CACNA1F SPATA7 RPGRIP1 TIMP3 CTNNB1 STX3 CNGB3 NPHP4 USP45 NHS LRAT RD3 IFT140 CRX CYP4V2 TULP1 AIPL1 NDP IMPDH1 IQCB1 CEP290 FZD4 RPE65 CRB1 LRP5 GDF6 RDH12 LCA5 PROM1 GUCY2D CHST6 HP_LENTICONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LENTICONUS RHO COL4A5 RDH5 COL4A3 PRPH2 RLBP1 COL4A6 LAMB2 COL4A4 HP_ORBITAL_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORBITAL_CYST SUFU PTCH2 PAX1 PAX2 PTCH1 BMP4 HP_RETINAL_EXUDATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_EXUDATE LRP5 NDP TREX1 TINF2 FZD4 CTC1 TSPAN12 HP_IMPAIRED_HORIZONTAL_SMOOTH_PURSUIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_HORIZONTAL_SMOOTH_PURSUIT ATXN1 ATXN2 EEF2 POLR3B ATXN3 STXBP1 RFC1 HP_SACCADIC_SMOOTH_PURSUIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SACCADIC_SMOOTH_PURSUIT GJB1 PIK3R5 SETX CACNA1G PRKCG KCND3 RUBCN TMEM240 SCYL1 ALS2 ATP2B3 CACNA1A PMPCA FMR1 ZFYVE26 SPG11 TPP1 ATN1 STUB1 ANO10 HP_SEPTATE_VAGINA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEPTATE_VAGINA GATA3 BCOR HOXA13 MKKS UBR1 TP63 MNX1 WT1 ZEB2 DHCR7 INTU HP_BRACHYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRACHYDACTYLY ATP7A RNU4ATAC DYNC2LI1 A2ML1 HOXA13 SIX3 IARS2 GNB2 ALX3 SH3PXD2B ITGB6 SUFU TRIP11 FGFR1 ARL6 MYCN STX16 MIR17HG WDR19 RAB23 EXOSC2 GNAS TCTN3 MMP23B SMAD4 CRIPT FGFR3 ANTXR2 DCPS ZIC2 FAM20C GATA5 CBL SPEN PTHLH MAP2K1 PRKAR1A BMP2 CTSK SIN3A SOS2 KIAA0753 EFNB1 NOG MRPS16 NIN SLURP1 PITX1 NKX2-5 PPM1D PTH1R BMPR1B AIFM1 PLXND1 CSGALNACT1 NXN ADAMTS10 CHST3 SOS1 NOTCH1 COL11A1 MSX2 KRAS KLLN NKX2-6 ERF CWC27 SDHC NRAS RERE PRKCZ DYNC2I2 KCNK4 BBS1 SHH SIK3 WNT4 DVL1 RSPRY1 BBS4 PIGN ROR2 ADNP AHSG ZIC1 DVL3 DYNC2I1 YY1AP1 EXT1 RUNX2 PTCH1 ZDHHC9 HUWE1 MEGF8 POP1 KIAA0586 COL11A2 KIF15 GNAS-AS1 HOXD13 COL2A1 GDF5 SLC26A2 DISP1 TRPV4 RRAS2 SRCAP CEP55 FBN1 KCNJ2 FGF8 FGF9 CHD7 TRPS1 TASP1 IFT52 ARID1A CHN1 POC1A LTBP3 EPB41L1 SLC2A1 PTPN11 PDE4D SIL1 CAMK2G SLC35C1 ATRX C12orf57 GJB4 GDF1 PTCH2 CHSY1 KDM5C NOTCH2 ACAN RIN2 GLI3 GJA1 CITED2 NSUN2 NEK1 RRAS SMARCA2 CDH11 AFF4 UBE4B PORCN STIL CANT1 CCDC22 SDHD RAI1 MAGEL2 GLI2 PPP1CB TFAP2B NPR2 PIGK PIK3R1 PTDSS1 KIF7 MYSM1 GPX4 FGFR2 MYMK TTC21B HSPG2 DLL4 TBX15 KAT6B CPLANE1 SMC1A PUF60 MIR140 TONSL MACROH2A1 EXTL3 LSS GJA5 B3GLCT FLNB MAP3K7 JAG1 BBS5 POMP INPP5K REV3L FZD2 CSNK2A1 RPS6KA3 WASHC5 GHR PDPN LMNA CILK1 CEP120 ZMIZ1 TBX1 ARHGAP31 RIT1 MAFB RBPJ EOGT PTEN GDF6 DEAF1 ESCO2 RAF1 GPC4 OFD1 TRIO CCDC32 FLII IFT80 INPPL1 FBXW11 LONP1 KDM1A IFT43 SMC3 FGD1 TNNT3 TELO2 ALX1 WNT5A CCDC28B BMP4 SNX14 PDE3A SPART MGAT2 PAX3 TCF12 FLT4 FTO EVC TMEM67 ARID2 SEMA3E COMP SHOX GJB3 PIK3CA ATP6V1B2 RAD21 HDAC4 IHH DYM MAF LTBP2 PLCB3 PCNT BHLHA9 PIGS RHOA PDE6D SPECC1L PPP3CA LBR DONSON LUZP1 WDR35 IFT122 TWIST1 BRAF BBIP1 FAM149B1 DYNLT2B IGF2 PAH PRMT7 USF3 IFT140 GATA4 PGM3 PAPSS2 RB1 PRKACB SHOC2 RDH11 SMARCD2 UPF3B CHRNA7 POGZ SCUBE3 ADAMTS17 ALG8 EHMT1 SLC35D1 KDM6A WAC TBX22 NLRP3 FLNA KCNAB2 IFT172 TMEM216 NEPRO RLIM PCYT1A BGN BPNT2 KAT6A SALL4 IQSEC2 EVC2 NBAS SKI ALG6 SDHB DPF2 MED12 GATA1 DYNC2H1 LIG4 SEC23B MRAS GATA6 CASZ1 SNRPN STAMBP PRDM16 LZTR1 IFT57 BBS9 DHCR7 CSPP1 ZFPM2 TGFBR2 RBBP8 LZTFL1 MKKS POR RASA2 DOCK6 MBTPS1 PNPLA6 RMRP CHST11 FAM111A KLF13 AKT1 KDSR PDGFRB GABRD IFT81 CUL4B HP_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNDACTYLY LMBR1 DYNC2LI1 MKKS HDAC8 SATB1 LEMD3 LFNG KCNJ8 FGFR2 FAT4 HERC2 BBS1 ARL6 MYCN CDH1 MIR17HG WDR19 RAB23 HOXD13 TCTN3 MCTP2 CRIPT MRPS28 SLC9A7 SMOC1 TXNL4A FRMPD4 ITGB4 TP63 ZEB2 RBM8A BMP2 FLNB CDKN1C PTCHD1 SIN3A MAP3K20 NECTIN1 FREM2 EFNB1 ARX PRKD1 PITX1 SC5D EZH2 PLXND1 GJA1 CSGALNACT1 NXN SLC6A1 GPC4 RFWD3 NOTCH1 EP300 NEDD4L ERCC4 SYT1 LRP4 MEIS2 BHLHA9 CLCF1 AKT1 GRIP1 FIG4 CDIN1 BBS9 KCNJ2 MKS1 TBX15 SLC12A2 PLAG1 GLI3 OTUD6B MAN1B1 SYP NDN PORCN SIK3 SALL4 DLG3 SMO ARCN1 BBS4 CDH3 SCAPER BTRC VAC14 ZNF699 CEP290 CTCF ROR2 GPC3 ADNP MED12 DVL3 FGFR3 DYNC2I1 CACNA1G YY1AP1 WNT10B IRF6 MEGF8 CREBBP CERT1 FDFT1 PUF60 SALL1 CEP55 BCR NEXMIF SNRPN DHODH CD96 BBIP1 FLNA DMD SCN1A IQSEC2 ACSL4 ZNF711 RAD21 CHUK CNKSR2 CACNA1C CCNQ MID2 LZTFL1 BICRA RERE SMAD6 DVL1 MEF2C DCHS1 BRCA2 ORC1 KIF7 RAB39B CDC45 CHSY1 MECOM KIAA1109 GDI1 NECTIN4 RPS6KA3 HEPHL1 NIPBL ALG13 MECP2 KIFBP HMGA2 USP27X HOXA11 NSUN2 FANCA CDH11 TMEM94 PIK3CA IFT52 DHCR7 FGFR1 SETD2 TBX5 MYH3 BRD4 CCDC22 KAT6A SNORD116-1 DACT1 TFAP2B SLC39A8 FGF10 MTRR TBC1D24 PTDSS1 ARL6IP6 SLC12A6 FANCB RBPJ RPL10 DLL4 DSP POLR3GL SDCCAG8 TBCK CPLANE1 FERMT1 PWRN1 NAA10 UPF3B RBM10 RALA USP9X SETD5 STAG1 CFAP418 MKRN3 SEM1 PWAR1 NARS1 FANCF CLCN4 TBR1 PHGDH CHRNG FGF9 EPS15L1 B3GLCT GDF5 FGD1 KIAA0753 IGF2 VPS13B BBS5 PDE6D REV3L FZD2 TWIST2 WASHC5 BRCA1 BBS2 TRIM32 CEP19 LMNA PHF21A CILK1 SMARCAD1 RAD51C CEP120 GJB6 ZMIZ1 ARHGAP31 BCOR EOGT RIPPLY2 EBP RAI1 DEAF1 SLC25A24 ESCO2 DLX5 OFD1 BBS7 TRIO FLII IFT80 BBS12 FBXW11 ZNF41 PIEZO2 WDPCP RTTN IFT27 NPHP1 MESP2 ZNF81 ANKRD11 IFT43 SMC3 TELO2 SLX4 BMP4 NOG CHD2 ERF WNT5A AGTR2 CCDC28B FBLN1 UBE2A APC2 FTSJ1 PAK3 PAX3 CNOT2 SHMT2 BLM XYLT1 IFT74 CKAP2L ATP6V1B2 PSMD12 CUL4B IRX5 XRCC2 PPP1R12A DLL3 HDAC4 TWIST1 TTI2 SHANK3 PTEN BMS1 NEK1 RHOA SPECC1L ADAMTS3 CTNND2 MED13L EN1 DYNC2I2 IKBKG WDR35 GNE SHH FANCC SYNGAP1 KCNJ5 SVBP APC FAM149B1 UBE2T CRKL IFT172 RAD51 CTNND1 TMEM231 IFT122 MAGEL2 SEMA5A MED25 IFT140 PLEC DDX6 IL11RA MAD2L2 RB1 CDAN1 SMAD4 AP2M1 ARHGEF6 FANCE BMPR1B DLX6 NSD1 TBX22 WNT7A FANCI CCBE1 TTC21B TMEM216 HES7 FANCL SLC2A1 SOX5 MYH8 SMC1A RIPK4 TSPAN7 ASXL1 MAPK1 NEK9 NBAS FRAS1 SF3B4 PIGY SBF1 ABCC9 STEEP1 SUZ12 POLR3A DYNC2H1 LIG4 IL1RAPL1 JUP ZSWIM6 FLI1 TGFBR2 RBBP8 SOST DDX11 TTC8 DYRK1A NPAP1 DOCK6 FANCG PNPLA6 HCFC1 KCTD1 EED BRIP1 FANCD2 IFT81 UBE3A SNORD115-1 FANCM PALB2 BBS10 HP_HAND_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAND_POLYDACTYLY NSD2 CEP120 GJB6 TCTN2 LMBR1 DYNC2LI1 SALL4 GPC4 MKKS TFAP2A SIX3 MAFB TMEM231 ALX3 KIF7 RAI1 ARMC9 BBS1 ARL6 DEAF1 AHI1 FGFR1 FANCB HYLS1 DDX59 TMEM237 GLI3 PIK3CA OFD1 WDR19 SC5D RAB23 STIL FLII HOXD13 TBX3 MBTPS2 IFT80 BBS12 TCTN3 GLI2 C2CD3 TMEM216 SH2B1 IFT27 MKS1 NPHP1 CEP41 ZIC2 SMOC1 DYNC2I1 TCTN1 LHX4 RPGRIP1L NELFA CCDC28B BMP4 CSPP1 EFNB1 ARL13B DYNC2I2 POU1F1 BBS5 BBS7 CEP104 SMO INPP5E EVC TMEM67 PTEN ZNF141 BLM GJA1 DYNC2H1 IFT74 ZNF423 CBY1 ARL3 CHD7 OTUD5 PROP1 BBS9 CTBP1 FGFR2 SALL1 WDPCP TMCO1 PORCN SHH LHX3 SCAPER BHLHA9 NEK1 HESX1 PDE6D ZNF699 CEP290 EFTUD2 GPC3 GLI1 CC2D2A CFAP418 KIAA0825 FGFRL1 PLAA CPLX1 LBR MEGF8 B9D1 BMPR1B PUF60 FAM149B1 GDF5 DISP1 IFT172 FGF8 CD96 CPLANE1 BBIP1 FLNA TXNDC15 IFT140 PIGG EVC2 CHN1 SEC24C PIK3R2 TMEM107 LZTFL1 HOXA13 PRKACB KIAA0586 COMT TMEM138 SEMA3E ZIC3 JMJD1C EBP WDR35 CHSY1 LETM1 ACOX1 AKT3 RPGRIP1 WNT7A CIBAR1 ABCA12 TTC21B B9D2 CCND2 FANCD2 DHCR7 BBS2 CCDC22 TGFBR1 KATNIP SETBP1 HIRA PIBF1 DACT1 IQSEC2 TFAP2B TBX1 PHF8 UFD1 SDCCAG8 RBM10 FLI1 GP1BB EXTL3 SUFU TTC8 ARVCF PNPLA6 KIAA0753 RREB1 WASHC5 BBS4 TRIM32 TWIST1 CEP19 BBS10 HP_POSTAXIAL_HAND_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTAXIAL_HAND_POLYDACTYLY CEP120 PIK3R2 TCTN2 TMEM107 DYNC2LI1 LZTFL1 GPC4 MKKS RAB23 HOXA13 PRKACB TMEM231 SMOC1 ALX3 KIF7 BBS1 ARL6 HYLS1 DDX59 EVC2 GLI3 OFD1 WDR19 SC5D WDR35 TBX3 MBTPS2 IFT80 BBS12 TCTN3 C2CD3 CEP290 TMEM216 AKT3 RPGRIP1 WNT7A IFT27 CIBAR1 MKS1 NPHP1 INPP5E DYNC2I1 TCTN1 IFT172 TTC21B RPGRIP1L B9D2 NEK1 WDPCP CCND2 CCDC28B DHCR7 CSPP1 BBS2 PORCN DYNC2I2 BBS5 BBS7 TGFBR1 SMO EVC TMEM67 GDF5 SETBP1 ZNF141 DYNC2H1 IFT74 CC2D2A OTUD5 BBS9 FGFR2 TMCO1 SDCCAG8 SCAPER BHLHA9 GPC3 CFAP418 KIAA0825 PLAA LBR TTC8 LMBR1 SHH CD96 MEGF8 B9D1 BMPR1B GLI2 ARMC9 PDE6D BBS4 TRIM32 BBIP1 FLNA CEP19 TXNDC15 IFT140 BBS10 TMEM237 HP_ABNORMALITY_OF_THE_METACARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_METACARPAL_BONES SMARCA2 LMBR1 HOXA13 TRPS1 LONP1 RNU4ATAC HDAC8 RBPJ SH3PXD2B BMP2 SUFU EOGT PTHLH TRIP11 RTL1 ABCC9 STX16 ESCO2 ROR2 GNAS TCTN3 COMP NSD2 FGFR3 GPX4 RPS6KA3 GDF5 GLB1 SMOC1 NOG MATN3 HFE RAB33B FBXL3 GLI3 GALNS FZD2 CHST3 PRKAR1A FLNB FBLN1 COL11A2 COG4 PDE3A COL2A1 TCF12 BMPR1B PLXND1 LBR NIPBL MAFB RECQL4 CLCN7 XYLT1 CWC27 FLNA AKT1 COL9A3 FIG4 RNF13 GUSB SALL1 HOXD13 HDAC4 MAP3K7 ANKRD55 IHH DYM HHAT FAT4 PTEN NFIX PCNT RSPRY1 IFT80 RMRP FGFR1 NEK1 PIGS VAC14 PDE6D MEG3 ZIC1 EXT2 PQBP1 FGFRL1 DONSON NONO CPLX1 RUNX2 DCHS1 KIAA0586 ASXL1 TWIST1 GNAS-AS1 SVBP APC FAM149B1 MYLPF SLC26A2 FGF16 SRCAP SETBP1 DNMT3A FBN1 PDE4D SALL4 MMP2 KCNJ2 CPLANE1 LRP4 PTCH1 IFT52 CD247 POC1A RAD21 LTBP3 ADAMTSL2 PRG4 CTBP1 B3GAT3 SIL1 FANCI TWIST2 RAB3GAP2 INTU PIK3CD LETM1 KIF22 IL2RB IL2RA SHOX IFIH1 WNT7A PRMT7 COL3A1 VPS13B COL9A2 PHYH PTPN22 ACVR1 TMEM216 NEPRO B3GALT6 FANCD2 NHS PCYT1A TBX5 PORCN BRD4 CANT1 EIF4A3 BGN BPNT2 CHSY1 SLC39A13 SCARF2 MMP14 PTCH2 PTPN2 PTDSS1 ARHGAP31 KIF7 NPR2 MYSM1 PEX7 DLL4 TBX3 OFD1 TRIO EXT1 COL9A1 FERMT1 RIPK4 BHLHA9 DDR2 SMC3 ADAMTS10 DHCR7 CSPP1 SMC1A TP63 EXTL3 STAT4 KL SPARC P3H1 NOTCH1 CD96 VPS35L MKKS POR FGF9 DOCK6 ANAPC1 B3GLCT SRY KNSTRN KIAA0753 LRP5 INPP5K REV3L SHH DLK1 PTH1R SLC25A24 HP_ARACHNODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARACHNODACTYLY NSD2 SEC24C C1R FSHR TGFBR2 B3GALT6 UBE3B SATB2 COMT NUP107 FBN1 PQBP1 FGFR2 POR JMJD1C SLC2A10 UPF3B FOXE3 FLNA MYH11 SH2B1 PTCH2 CPLX1 POLR3H PIEZO2 ALG14 BMP1 TGFB2 TGFB3 ABL1 SMAD3 NELFA KANSL1 ZDHHC9 ASXL3 BNC1 ZEB2 DSE ZNF469 DPAGT1 HERC1 FGFR3 SIN3A ACTA2 SMARCE1 TGFBR1 B4GALT7 MED12 NKAP MAPK1 PLOD1 CBS HIRA PEPD SCARF2 HEY2 HNRNPH2 PYCR2 CHST14 MFAP5 MYLK TBX1 PRDM5 SMAD2 NPR2 CTBP1 PRKG1 FARSA FBN2 PHF8 SMS SON OTUD6B NALCN UFD1 LOX CYP26B1 AMER1 MAT2A UNC80 PAPPA2 ELN SPIDR STUB1 GP1BB COL2A1 BMP15 SKI SOX6 PTCH1 OSGEP MRPS22 CHRNG ARVCF LETM1 SUFU ACTG2 CTSC CNTN1 CRKL VPS13B AEBP1 BCR NARS1 RREB1 DLG4 MTM1 EFEMP2 COL11A1 NR5A1 LAGE3 PIGG PSMC3IP FBLN5 SMAD4 HP_ABNORMALITY_OF_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FINGER RNU4ATAC TRPS1 COL1A1 CCDC32 NRAS MGP BUB1B ALX3 LMBR1 NUP107 KMT2D HPGD FANCB MIR17HG KANSL1 LAMB3 TCTN3 WDFY3 MBTPS2 MRPS28 NUP37 ARSL CEP41 SMOC1 ANKRD11 CBL SPEN MAP2K1 MAP1B ZEB2 NEXMIF ACVR1 CTSK SIN3A SOS2 FLNB NOG COG4 NIN LMOD3 POU1F1 BMPR1B INPP5E KCNA1 CSGALNACT1 NXN ADAMTS10 LMNA KCNMA1 SOS1 CHST14 BHLHA9 MYLK MIR140 CLCF1 NGLY1 HUWE1 PIGN SEMA3C FIG4 TP63 COL11A1 GATA2 HOXD13 PRKCZ MYH3 PLAG1 SYP SALL4 DLG3 RSPRY1 RMRP VAC14 RFWD3 EFTUD2 MEG3 CDT1 MED12 EHMT1 CFAP418 MAPK8IP3 EXT2 PQBP1 DYNC2I1 EXT1 RPS29 RPS10 PTCH1 NCF1 TMEM237 CREBBP B9D1 ATRX TGFB1 SUFU PUM1 DSP ATP6V1B2 RFT1 FAM149B1 SETBP1 AEBP1 B3GALT6 YWHAE KCNJ2 FGF9 STN1 RPS24 CHN1 CHUK CNKSR2 JARID2 TBL1XR1 DMXL2 BICRA ARID2 RERE AHI1 PDE4D MAPRE2 ZMIZ1 SLC9A6 SLC2A10 C12orf57 CEP152 GDF5 FAT4 POR KDM5C WDR35 PGAP2 SRCAP KIAA1109 ELN ARID1B SACS RPS6KA3 GLI1 EIF4H ABCA12 WFS1 B9D2 SMARCA2 TOR1A MED27 TBX5 PSMB9 H19 CRPPA IDUA ECEL1 COL10A1 FGFR2 BRD4 MTX2 HOXA11 HOXA13 PI4KA MKS1 FBN1 HIRA GLI2 DACT1 CLDN3 HNRNPH2 ATN1 TBX1 PTDSS1 SETD5 TMEM216 ODC1 COL17A1 RBPJ PIEZO2 COL6A1 TBX4 HSPG2 DLL4 TCF4 SDCCAG8 SMG9 KAT6B FERMT1 CC2D2A NUP133 NKX2-5 NAA10 DISP1 SATB2 SPIDR USP9X STAG1 PWAR1 QRICH1 RPL26 ADAT3 RAPSN NOTCH1 CANT1 CCND2 SREBF1 FGF10 IGF2 VPS13B NEK9 PDE6D CEP57 FGFR3 TMEM270 SATB1 PAX3 SMARCAD1 CEP290 RAD51C RPS28 SMPD4 BUB3 RIT1 RPL18 SLC25A24 ABCC9 DOK7 ATRIP IFT80 BBS12 BCOR NFIX FANCA IDS ZNF81 GLI3 ZIC2 FGD1 TNNT3 SLX4 LHX4 ALX1 TBCK BMP4 ZFPM2 RRAS2 IFT43 BBS5 PAK3 MBD5 COL2A1 CEP104 MASP1 EED TMEM67 METTL27 CBS ZNF141 BLM PIGL TRAPPC9 CKAP2L RELN KIF7 MFAP5 PSMD12 CUL4B MUSK HS2ST1 ZC4H2 MAP3K7 CWC27 WDPCP UBE3B PUS7 IL21 LTBP2 IGHMBP2 PTEN P4HTM PIGS SPECC1L TFAP2A CFTR EN1 DONSON COL6A3 WDR19 GJA1 RLIM KDM4B IKBKG COMP DNAJC21 RFC2 USP7 TTN PIGW LAGE3 UBE2T B3GLCT CTSC PSMB4 CRKL FOXP1 IFT172 IFT122 BCORL1 FN1 CPLANE1 SNRPB RBM8A IFT140 DDX6 PIGG TGFB3 COG7 FBLN5 LAMC2 TGFBR2 SMAD4 SLC18A3 KMT2E ARHGEF6 CLIP2 EVC ZMPSTE24 GGCX EBP KCNE5 LETM1 SMARCE1 PHGDH COL3A1 IFIH1 TPM2 GJA8 TTC21B TRIP12 SAMD9 RPS19 SMARCA4 FANCL TGFBR1 LAS1L ACTA1 SMC1A BGN KATNIP TCTN2 MAPK1 RBBP8 NCKAP1L OFD1 PYCR2 ALG6 EDN3 PIGY TMEM107 RPL11 XYLT1 DPYSL5 SUZ12 PRKG1 ARX ACAN BMP2 DYNC2H1 ALG9 IL1RAPL1 WIPI2 DDX59 FBN2 KCNN3 SMC3 KIF1A LZTR1 FGF8 TAPT1 STUB1 GP1BB ESCO2 SOST IHH SKI RPL10 TERC SMAD3 TTC8 BRAT1 LZTFL1 RETREG1 PTPN22 PRKDC CTDP1 TWIST1 PCNT MYBPC1 NARS1 NPHP1 PPP2R3C FANCD2 KDSR ATL3 HMGA2 GTF2I RTEL1 KCNJ8 KCNH1 TBC1D2B L1CAM ARL6 MYCN AMMECR1 EIF2AK4 EXOSC2 MUC5B SPOP BPTF MCTP2 GDNF TGFB2 SPTBN1 RAB33B BANF1 PTHLH RAB18 FZD2 FRMPD4 ZNF469 PTCHD1 WASF1 MGAT2 PRKD1 GPC4 ZNF423 MSX2 FBXO11 OTUD5 MATN3 MIA3 PYROXD1 PTPN23 SMS RPS20 MAFB WDR4 LHX3 MADD UNC80 ADNP DVL3 AP4M1 RPGRIP1L SOX6 LBR HPDL CEP120 COL12A1 SMARCC2 COL11A2 DNAJC30 GMNN SALL1 CCDC8 SUMF1 TRPV4 CEP55 HDAC4 ADH5 TP53RK SLC26A2 CHD7 DMD AGO2 TXNDC15 TLL1 POC1A RECQL4 DYM SEC24C SHH SLC9A7 RPL27 CWF19L1 KIAA0586 RPS23 CAPN3 INTU SOX11 GJB4 ORC1 ACTL6B EVC2 DYRK1A RAB39B UBR1 LAMA3 CD244 CIITA PIGH AKT3 RUNX2 ALG13 SHOX FLNA STAG2 PNKP ITGB4 IL10 MECP2 DPAGT1 HERC1 DHCR7 UBE4B BBS2 RUSC2 SRP54 PLK4 PIBF1 MAGEL2 SCARF2 TCF20 GATA4 SOX5 SCN9A MYOD1 IQSEC2 NPR2 KAT8 PHF8 PLAA GPKOW RYR1 LRBA SIAH1 ZNF462 KATNB1 FANCF ERCC1 CHRNA1 CSPP1 PIK3R2 TBR1 TBC1D24 ZNF292 PEX5 XRCC4 ARVCF KCNK9 NFASC KIAA0753 ERCC6 TRAPPC4 STXBP1 CNOT1 LONP1 CNOT3 CHRNA7 CCNQ GTF2IRD1 KNSTRN ZNHIT3 NTNG1 TRIO FLII TBX3 NUP88 C2CD3 RPL35 INPPL1 LRP4 TRMT10A RPL35A IFITM5 LMX1B SLC12A2 KPTN WNT5A CCDC28B FKTN ACTG1 RAC1 DYNC2I2 TPRKB FLT4 ACSL4 XYLT2 DOCK3 SHMT2 EP300 SLCO2A1 XRCC2 PROP1 DLL3 RNF13 MYMK TMCO1 SETD1B AMER1 PPP1R15B ATR ECE1 SOX9 ADAMTS3 KIAA0825 CHRND DSE TGDS NONO YY1 HDAC8 PEX6 FANCC MRPS22 MSL3 APC EFL1 PAH SMARCD1 MKKS TNNI2 ATP13A2 MAD2L2 RB1 SOX4 RAB23 NLRP1 LIFR NFKBIL1 SEMA3E SNIP1 POLR3H DYNC2LI1 TMEM231 TBX22 CRLF1 ALG3 LAT2 SEMA3D GNPTAB ROR2 BNC1 WNK1 LEMD3 RPS7 TSPAN7 CD55 LIMK1 PRDM5 ARHGAP31 CCBE1 ADAMTS2 GATA1 PUF60 LIG4 SNRPN BBS9 WNT7A EXOC6B FLI1 ALG12 MOGS PAFAH1B1 LARS1 VPS35L PDE3A NSD1 RASA2 NPAP1 FANCG SFTPC HCFC1 RAB3GAP1 NR2F1 CTU2 DLX5 KIF22 BRIP1 GABRD DLK1 SMO SNORD115-1 FANCM PALB2 ERCC2 A2ML1 C1R SH3PXD2B HERC2 GATAD2B BBS1 TRIP11 ERBB2 GNAS OBSL1 ABCC8 BRAF GATA5 COG8 PITX1 SC5D EZH2 PLXND1 RPS27 ALDH18A1 ERCC4 ASPN SLC25A46 TCTN1 AKT1 CTBP1 CDKL5 DOLK OTUD6B NDN NALCN EMG1 SCAPER ZNF699 CTCF GPC3 PHIP MTOR NOD2 SIK1 GJA5 WNT10B ZDHHC9 OSGEP COL1A2 MEGF8 KIF15 CLIC2 BRCA1 CNTN1 DNMT3A DHODH COG5 MTM1 CD96 BCL7B FTSJ1 ARID1A ZNF711 KLHL41 EPB41L1 SPEG MID2 PPP1R21 B3GAT3 BUB1 COMT PIGB RAB3GAP2 COL5A1 DVL1 BRCA2 GDF1 PTCH2 CHSY1 ORC4 HRAS USP27X CITED2 PACS2 NEK1 JAG1 SVBP RRAS TMEM94 TANC2 PPP2R1A FGFR1 BUD23 ALX4 TERT KAT6A DPYS ATG7 HHAT SNORD116-1 SLC39A13 PSMB8 IGF1 PMM2 SLC12A6 SFTPA2 IGF1R HIVEP2 SIM1 POLR3GL DDR2 PWRN1 AUTS2 PIGO FANCE PHF6 MKRN3 MACROH2A1 EXTL3 CPT2 CLCN4 ATP7A PNPLA6 KIFBP TUBB3 KLHL40 TWIST2 TRIM32 CEP19 SMARCB1 G6PC3 PDPN MYH8 LFNG CHD1 KMT2C GJB6 NLRP3 TRAPPC2 POLR3A RIPPLY2 ARMC9 SLC35A3 DEAF1 HYLS1 RAF1 PIK3CA KMT2A CHRNG EIF2S3 ZNF41 PIGQ EMC1 RTTN KDM1A MESP2 ACTB TELO2 ABL1 CHST3 NELFA GORAB SBDS B4GALT7 BBS7 ERCC8 SIX3 PEPD GJB3 PAX1 LMNB2 ACP5 EDA CDC6 SLC34A2 FARSA CUL3 TRAIP ZBTB20 SON LOX CYP26B1 SYNE1 HESX1 PAPPA2 CDC42 LUZP1 RPS26 ACTL6A CCNK RAD51 OGT NOTCH2 NR5A1 SLC25A22 IL11RA RAB11B PRKACB ALOX12B RASGRP1 RPL5 DPP9 SCN2A ABHD11 KDM6A ACOX1 NEUROD2 WAC FANCI STX1A CCDC22 NEPRO NRTN PCYT1A HES7 RIPK4 NKAP ASXL1 KRAS WDR73 SMAD2 STEEP1 PACS1 UFD1 MED13 MRAS MAF STAMBP BIN1 MAT2A IFT57 PTH1R GTF2IRD2 CHD4 DOCK6 ANAPC1 VPS37D BRF1 EDA2R DLG4 CHST11 EFEMP2 ORC6 PDGFRB SF3B4 ANKLE2 IARS2 GNB2 ADA2 RTL1 MAN1B1 GPR101 MMP23B RET CRIPT SH2B1 ANTXR2 PRKAR1A CDKN1C EFNB1 OCRL AIP GRIA4 ARL13B CENPE AIFM1 PIGP TBL2 SHANK3 MEGF10 HEY2 CBY1 ARL3 NKX2-6 MEIS2 KCNJ11 TBX15 SLC35A2 NSDHL CASK TUBB UBR7 KCNK4 PORCN ALMS1 FCGR2A FGFRL1 YY1AP1 CPLX1 MED12L MYLPF BCR COL5A2 MMP2 BBIP1 OPA3 HIC1 IFT52 PSMC3IP RAD21 FSHR GATA6 PTPN11 NEB SIL1 TMEM70 TRIM8 TMEM138 JMJD1C ERBB3 MYH11 RNF216 IARS1 MECOM GDI1 EIF2AK3 NIPBL CIBAR1 CUL7 ZBTB16 ATAD1 NSUN2 RPL15 ACTA2 SETD2 ABCD1 STIL PLOD1 PIK3CD TFAP2B ADAMTSL1 SLC22A4 GPX4 ALOXE3 CCN6 RPL31 UPF3B RBM10 SLC29A3 TONSL STK11 COPB1 RREB1 INPP5K REV3L TRMT1 WASHC5 BBS4 COL6A2 RPS17 FBXW11 PHF21A NSD2 MYT1L RPS15A EXOSC9 EOGT RAI1 FOXE3 PIGV ALG14 IFT27 SCN1B POLA1 AGTR2 TSR2 APC2 DPF2 CNOT2 CLCN7 IFT74 RSPO2 IRX5 GNAO1 MORC2 SFTPA1 DLX3 PKDCC PIGF ABCA3 ACTG2 HINT1 PTF1A ATP11A PARN MED25 CYP27A1 PGAP3 AFF2 SLC5A6 PALS1 ADAMTSL2 PRG4 EDNRB ZIC3 PCGF2 DHPS RPGRIP1 BMP1 KCNAB2 ASXL3 MLXIPL EIF4A3 CDC45 TRRAP KDM6B PEX1 FRAS1 BAZ1B ADGRG6 EBF3 PIK3C2A FIBP SPART CASZ1 PIK3R1 HYOU1 PRDM16 NTNG2 PTRH2 JUP CENPJ NHS BMP15 BICD2 BMPR1A ERCC5 FKBP6 FAM13A CLDN4 HTT TRIP13 COX4I1 TNRC6B ASAH1 KLF13 UBE3A BBS10 HP_BROAD_PALM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_PALM PTH1R LBR FGD1 PRKAR1A SLC35C1 IHH FHL1 GATA1 DYM B3GLCT SPECC1L FBN1 IFT80 BCOR FGFR1 AIFM1 ADAMTS10 PPP2R3C TBL1XR1 ASXL1 RAI1 GPC3 GPC4 COL2A1 RPS6KA3 TONSL OFD1 HP_ABNORMAL_THUMB_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THUMB_MORPHOLOGY ANKLE2 LMBR1 KMT2E HOXA13 CCDC32 GTF2I HDAC8 B3GALT6 KCNH1 ADA2 NUP107 SUFU COL12A1 L1CAM FANCB ALG13 MYCN RTL1 MIR17HG SLC9A6 RAB23 ERBB2 EXOSC2 HOXD13 GNAS TPM2 LMNB2 SF3B4 RET WDFY3 OTUD6B CRIPT GDNF GATA1 ANKRD11 TCTN1 FZD2 TP63 ZEB2 RBM8A SIN3A MYH3 FLNB NOG SUMF1 GRIA4 MGAT2 PRKD1 LMOD3 MGP PTH1R EZH2 PLXND1 NXN ADAMTS10 ACTL6B KCNMA1 TBL2 GPC4 RECQL4 RPS27 RFWD3 ALDH18A1 DYNC2H1 EP300 ERCC4 MSX2 MEIS2 CHST14 BHLHA9 WDR4 HUWE1 SEMA3C FIG4 CTBP1 SATB2 FGFR2 BPTF PTPN23 RPS20 UBR7 SALL4 SMO DVL1 VAC14 ZNF699 ROR2 EFTUD2 MEG3 GPC3 ADNP GLI1 MED12 DVL3 FGFR3 AP4M1 RPGRIP1L PQBP1 FGFRL1 GJA5 RPS29 FANCL CPLX1 TMEM67 RPS10 NCF1 MEGF8 B9D1 NALCN HPDL BMPR1B RPL26 CLIC2 PUF60 DNAJC30 BRCA1 OSGEP ATP6V1B2 MYLPF KIF7 SALL1 GDF5 BCORL1 RFT1 KDM4B SRCAP SETBP1 ADH5 PSMD12 TP53RK SLC26A2 FGF9 COL6A3 FBN1 FLNA BCL7B PTEN OPA3 AGO2 TXNDC15 RPS24 PTCH1 CHN1 RAD21 KLHL41 EPB41L1 JARID2 USP9X BICRA NEB B3GAT3 RPL27 FANCI CWF19L1 PIGB INTU ZMIZ1 BRCA2 ERBB3 WASF1 WDR35 CHSY1 KIAA1109 ELN FANCG RUNX2 NIPBL ACAN EIF4H ZBTB16 GLI3 ATAD1 UBE2T NONO B9D2 NSUN2 NEK1 SVBP FANCA TOR1A TANC2 RPL15 DHCR7 FGFR1 MED27 TBX5 CRPPA ECEL1 ABCD1 BRD4 CANT1 BUD23 ALX4 CNOT3 MKS1 PIK3CD DACT1 TCF20 CLDN3 CREBBP FGF10 PTCH2 TBC1D24 TMEM216 KAT8 PHF8 GPKOW CC2D2A RPL31 SMC1A NUP133 NAA10 SIAH1 FANCE KDM1A ZNF462 DOCK3 EXTL3 FANCF ESCO2 ERCC1 ATP7A SREBF1 LETM1 B3GLCT KLHL40 NEK9 REV3L TRMT1 TMEM270 TRAPPC4 RPS17 SATB1 FBXW11 G6PC3 COL6A1 MADD CEP290 RAD51C NSD2 MYT1L RPS28 SMPD4 TFAP2A RPS15A LONP1 MAFB BCOR EXOSC9 TMEM231 GTF2IRD1 KNSTRN RPL18 DLX5 OFD1 NTNG1 GATA4 TCTN3 RPL35 INPPL1 RPL35A COL6A2 DYNC2I1 DHODH SMC3 ACTB FANCC TNNT3 SLX4 BMP4 CHST3 NELFA SLC12A2 IFT80 CSPP1 TSR2 ACTG1 RRAS2 DYNC2I2 TPRKB ECE1 EED SHMT2 METTL27 GJA1 XYLT1 RELN CHD7 RSPO2 CDC42 XRCC2 HS2ST1 ZC4H2 MAP3K7 CUL3 IHH PUS7 SON LTBP2 RPL5 PKDCC PCNT PIGF SYNE1 BRIP1 RLIM RPS26 SHH ACTL6A RFC2 MAPK8IP3 WNT5A LAGE3 MSL3 APC PAH RAD51 CPLANE1 TNNI2 MED25 LRP4 COL2A1 PIGG COG7 TMEM237 MAD2L2 PALS1 PALB2 RB1 TMEM107 LIFR SMOC1 EDNRB SEMA3E ZIC3 CLIP2 SNIP1 ABHD11 PCGF2 PHGDH RPGRIP1 CNOT1 ALG3 LAT2 SEMA3D STX1A GJA8 ACVR1 RPL11 TRIP12 NRTN DSE FANCD2 RPS19 RPS7 ACTA1 EIF4A3 RIPK4 LIMK1 PYCR2 HYLS1 EDN3 FRAS1 BAZ1B WDR73 DPYSL5 SUZ12 PACS1 ADGRG6 BMP2 DDX6 ALG9 TRIO LIG4 MED13 WIPI2 FIBP SPART FBN2 KCNN3 NTNG2 PTRH2 TAPT1 GTF2IRD2 STUB1 ALG12 BMPR1A VPS35L FKBP6 CRLF1 NSD1 CLDN4 HTT VPS37D MLXIPL TWIST1 MYBPC1 TNRC6B TCTN2 PPP2R3C CHST11 DLK1 FANCM HP_LARGE_HANDS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_HANDS FIBP NF1 MEN1 SUZ12 PHF8 POLR3A SDHC PHGDH SHANK3 ABCC9 RNU4ATAC FOS GPR101 NSD1 HERC1 KDM5C ASNS CAV1 CAVIN1 PACS1 AGPAT2 PEX6 SDHB INSR AIP SETD2 PIGL APC2 PSAT1 RPS6KA3 EZH2 EED BSCL2 PPARG KIT PEX1 HP_PREAXIAL_HAND_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREAXIAL_HAND_POLYDACTYLY NSD2 TMEM107 SALL4 TMEM216 TFAP2A CTBP1 MAFB PHF8 FGFR2 SALL1 TMEM231 LMBR1 KIF7 GLI3 OFD1 EFTUD2 WDR35 SMO HOXD13 CC2D2A BHLHA9 TCTN3 CPLX1 ZNF699 LETM1 GLI1 RPGRIP1 RPGRIP1L FGFRL1 EXTL3 DYNC2I1 TMEM67 SHH TCTN1 B9D1 NELFA B9D2 NEK1 IFT80 PUF60 FANCD2 BMP4 CSPP1 DYNC2I2 TCTN2 CPLANE1 MKS1 TXNDC15 GJA1 DACT1 DYNC2H1 PIGG CHN1 HYLS1 TMEM237 CEP290 HP_ULNAR_CLAW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ULNAR_CLAW GDAP1 HSPB1 EGR2 MPZ MPV17 NEFL SBF2 PMP22 PRX HP_HAND_OLIGODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAND_OLIGODACTYLY SMOC1 WNT7A SEMA3E SF3B4 NIPBL ESCO2 DLX5 CHD7 PORCN RECQL4 WNT10B BHLHA9 HP_ADDUCTED_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADDUCTED_THUMB ANKLE2 SMPD4 GTF2I B3GALT6 L1CAM NEB LIFR KCNH1 EXOSC9 COL12A1 GTF2IRD1 EDNRB SLC9A6 CLIP2 ALG13 RTL1 ERBB3 ABHD11 TNNT3 PCGF2 ERBB2 TPM2 KIAA1109 MYH3 RET ELN PHGDH COL6A2 GDNF EIF4H ALDH18A1 ALG3 LAT2 SEMA3D NUP107 STX1A ATAD1 NRTN ZEB2 DSE RBM8A TOR1A CRPPA LMOD3 ECEL1 ABCD1 TPRKB ACTA1 BUD23 ECE1 NALCN SHMT2 METTL27 FBN1 TBL2 LIMK1 EP300 CLDN3 CREBBP RELN CHST14 EDN3 BAZ1B WDR73 WDR4 SEMA3C ADGRG6 SMO GPKOW FBN2 SYNE1 NUP133 TNNI2 MEG3 TAPT1 GTF2IRD2 AP4M1 STUB1 ERCC1 ATP7A NCF1 SREBF1 RFC2 FKBP6 CRLF1 LAGE3 MSL3 CLDN4 DNAJC30 VPS37D OSGEP MYLPF MLXIPL KLHL40 RFT1 NEK9 MYBPC1 TP53RK CHST11 TMEM270 COL6A3 BCL7B MED25 DLK1 COL6A1 COG7 KLHL41 EPB41L1 HP_TAPERED_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TAPERED_FINGER RAB11B RPL10 ZMIZ1 CNOT3 ZNHIT3 IARS2 GNB2 PIGB COL12A1 FIG4 MAPRE2 KIF7 USP9X KMT2E ATRX GJB4 SNIP1 ABCC9 SPEN DYRK1A KCNE5 KDM5C KMT2A PCGF2 TRIO GATA4 UNC80 GPR101 INPPL1 EIF2S3 OTUD6B EXOC6B PIGV RUNX2 RPS6KA3 KDM1A VPS13B GJA1 SMARCAD1 TNNT3 TELO2 MAP1B SCN9A KIF1A WASF1 AIP RUSC2 LAS1L CDKL5 RETREG1 ACSL4 SMC1A DOCK3 ASXL1 MAPK1 TCF20 MAGEL2 SLC39A13 TRAPPC9 ADAMTSL1 MYOD1 GJB3 SLC25A46 FBXO11 SLC12A6 PAX1 TCF4 CDC42 IRX5 ODC1 LMNB2 HIVEP2 NR2F1 GATA2 RNF13 ARX SIM1 MAF MYMK SETD1B EBF3 BRF1 PIGN VAC14 DPYSL5 PHIP ECE1 KATNB1 EHMT1 PHF6 OFD1 DSE SMARCA2 SPOP CPT2 HUWE1 KIFBP AMMECR1 CRLF1 PUM1 CHD4 SVBP TP53RK CHST14 CCNK COPB1 BCORL1 DLX5 HDAC8 KDSR PHF21A DDX6 WNK1 KMT2C CNOT1 HP_HYPEREXTENSIBILITY_OF_THE_FINGER_JOINTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPEREXTENSIBILITY_OF_THE_FINGER_JOINTS PLAA BRAF PKDCC HRAS COL1A2 FBN1 FGD1 GNB2 COL5A1 PIGG KCNH1 PTDSS1 NFASC SMS IFITM5 RPS6KA3 OTUD6B LMX1B GORAB HP_HAND_CLENCHING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAND_CLENCHING BCOR MOGS DST GLE1 ATP6V1E1 WDR73 TBR1 L1CAM SCYL2 FLNB TPM2 ASXL3 KIDINS220 TOR1A CNTNAP1 SMG9 CDK5 KIAA1109 NEB GTPBP2 KCNA1 SLC6A9 MAPT BICD2 MYOD1 HP_ABNORMALITY_OF_THE_CARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CARPAL_BONES GDF5 HOXA13 SALL4 NOG LONP1 ENPP1 LMBR1 SMOC1 TBX5 TRIP11 BMPR1B DYNC2LI1 EVC POR FLNA COL2A1 DYM SLC35D1 KIF22 SHOX EXOC6B EIF2AK3 PIGV GLI1 B3GALT6 MATN3 NIN MYH3 EXTL3 GNPTAB PAX3 HOXD13 FGFR3 FLNB FBLN1 PITX1 CANT1 PTH1R BGN CHSY1 NXN SETD2 GPC4 MAFB RECQL4 XRCC2 XYLT1 COMP MAP3K7 MMP14 TRPV4 ABCC6 FGFR2 SLC34A2 ALDH18A1 IHH EVC2 EXT1 SLC10A7 BHLHA9 RSPRY1 DDR2 NANS ROR2 GPC3 ESCO2 MACROH2A1 ATP7A UFSP2 APC CHST3 MBTPS1 EBP RMRP MMP2 NOTCH2 RBM8A SHH LRP4 WNT7A TONSL EXT2 HP_ULNAR_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ULNAR_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND RAB3GAP2 MUSK HOXA13 LIFR COL9A3 MYMK PIEZO2 HOXD13 MAP3K7 ADGRG6 SLC26A2 ALG9 B3GALT6 PEX1 RBM28 GDF5 TNNT3 NALCN COL9A1 FBN2 BMPR1B TPM2 PTRH2 TNNI2 DPYSL5 MYH3 DHCR7 EXOC6B TBX22 WNT7A SHOX TGDS FLNA LBR COL9A2 CD96 PAX3 ASXL3 ZEB2 BMP2 SALL1 CRKL RAB3GAP1 MYBPC1 BCR HRAS MAPK1 MAFB DACT1 COMP CILK1 HP_ABNORMALITIES_OF_PLACENTA_OR_UMBILICAL_CORD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITIES_OF_PLACENTA_OR_UMBILICAL_CORD RTL1 MEI1 PIGL F7 FLT1 GATA6 SMARCD2 TTC37 POR STK11 NRAS FANCF FANCB HOXD13 PGAP2 MCTP2 FOXF1 PIGV LORICRIN F13A1 IGF2 GLB1 SPTBN1 PACS1 HMGA2 KHDC3L GJB2 CORIN FCGR3B TP53 HELLPAR CDKN1C RAC2 DLK1 STOX1 FERMT1 PIGY CCDC22 PLAGL1 MEG3 SCARF2 MYD88 SMARCAD1 WASHC5 ATP6V1B2 BCL10 TBC1D24 MUSK POMP C11orf80 WT1 MKS1 PLAG1 PIGO ADGRG6 CHEK2 FGFR3 HSPG2 ZMPSTE24 ITGB2 ZNF699 IGF1 KIT WNT3 TAPT1 CFH QRICH1 HYMAI PHGDH PIGW LMNA CFI F13B CDKN2A MDM2 GLE1 NLRP7 SERPINE1 DDX6 PGAP3 CD46 HP_SHORT_UMBILICAL_CORD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_UMBILICAL_CORD MUSK LMNA ADGRG6 ZMPSTE24 PHGDH HP_ABNORMALITY_OF_PRENATAL_DEVELOPMENT_OR_BIRTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PRENATAL_DEVELOPMENT_OR_BIRTH WNT4 SCN5A PPARG PSEN1 A2ML1 COL1A1 KIAA0586 SATB1 PIGA BUB1B CACNA1A F7 HERC2 SLC18A3 TPM3 BMPER HNRNPK HNF1A ITGA6 PLEC LMNA PAX7 GLI2 AVPR2 MYO9A STRADA CDK19 ADAMTS3 AQP2 SLC13A5 FXR1 BRAF GATA1 CBL PEX3 CTSA F2 NEXMIF FLNB CHRNE SIN3A PEX12 SOS2 EXT2 TRPV4 LMOD3 FOXE1 RAPSN CNKSR2 CARS2 RHCE CSGALNACT1 SOS1 GABRB2 RPS27 DYNC2H1 PHOX2B ERCC4 MAP2K2 CRTAP NTRK2 VCP MYLK TMEM70 HACD1 TRAK1 ENG PROKR2 CCDC39 PIGN FIG4 COL11A1 NRAS ITGB4 ZIC2 CALM2 CTBP1 DIS3L2 MKS1 CDON USP7 ATP8B1 PLAG1 NDUFAF3 CHEK2 SLC1A2 DYNC2I2 NDN CCDC174 NALCN KBTBD13 DMPK LARS2 ITGB2 VAC14 ZNF699 CTCF MEG3 PLD1 MME AHCY ERCC2 RPS29 CACNA1D RPS10 LMOD1 OSGEP COL1A2 GAS8 NCF1 CERT1 TMEM106B HYMAI B9D1 TRIP11 GUSB MYOD1 UROD CNTN1 MT-ND1 MSX1 ITGA8 PEX19 RRAS2 SOX3 SNRPN ATP6V1A CLCNKA COG5 GBA SLC25A1 MTM1 MDM2 CD96 UBE2A NDUFS8 COL6A3 PRRX1 BCL7B DNAH5 ZFP57 GREB1L ACTG2 RPS24 F5 UBA5 SELENON KLHL41 SMAD4 QRSL1 DNM1 NEB CYP11A1 SCYL2 BUB1 COMT PREPL GYPC EPB41 DONSON COL5A1 RSPH4A FLT1 NEU1 BRCA2 ALB FAT4 POR MPLKIP WDR35 DNAH9 PGAP2 IL1RN MPL CHAT SHOC2 ELN MAGEL2 EIF4H TTC7A TTC12 WDR81 PACS1 HRAS HMGA2 KIDINS220 B9D2 NEK1 RRAS CYFIP2 TOR1A FUZ CCDC65 CNTNAP1 DLK1 MED13L TPM2 H19 CRPPA NOS3 BRD4 TARS1 AARS1 BUD23 DNM1L SCN3A VANGL1 PNPO RYR1 HIRA SNORD116-1 PKLR NECAP1 STOX1 CLDN3 EEF1A2 TBX1 NPHP3 TMEM216 POMP ODC1 FANCB C11orf80 COL6A1 STXBP1 PHGDH DLL4 TBCD SLC26A2 MYPN JAK2 GLDN GATB FGFR3 DZIP1L CALM3 WWOX SMG9 KAT6B ODAD3 MAP2K1 CC2D2A SYCP3 ZMPSTE24 NDUFS4 PWRN1 NUP133 GP1BB DPYSL5 AIMP1 DNAAF3 GFPT1 MKRN3 CORIN PWAR1 EXTL3 QRICH1 ADAT3 NDUFS3 CPT2 NOTCH1 ACE GLE1 FBN1 CLN8 GRIN2D PPP3CA SEC24D FGF13 OPA1 SERPINC1 SLC27A4 KLHL40 CFI VPS13B DALRD3 NEK9 RTL1 TSHR EIF5A FAS BRCA1 TMEM270 ABCB4 LTBP3 RAF1 CHRM3 CEP290 RAD51C ITGA2B PTCD3 RPS28 RPL10 SMPD4 GPC4 BUB3 RIT1 SLC25A46 KCNJ1 PIGL ODAD2 RPL18 STAT2 DEAF1 PEX1 HYLS1 SLC25A24 ESCO2 BTG4 DOK7 TCTN3 SOX18 PEX26 GRM7 MYL2 IBA57 NDUFS1 CACNA1C VAMP1 KHDC3L HADHA SLX4 ATP6V0A2 FCGR3B NELFA TBCK IFT80 SNTA1 CCNO DRC1 FGFR1 ABCC8 MGAT2 TGIF1 KCNH2 PTH1R PIEZO1 RNF113A METTL27 MYF6 MBTPS2 MAGED2 MYD88 WDR62 SMARCAD1 CELF2 SLC6A9 BCL10 KIF7 TSEN54 SPEF2 MUSK FARSB HCN1 ZC4H2 IL2RB PHACTR1 FARSA CYP11B1 PEX5 SON LOX IGHMBP2 SYNE1 DOCK6 PIGS ERCC3 ABCC6 GPC3 RPS26 OCA2 ARV1 RFC2 FGG ALG1 TRIM37 PIGW RSPH1 LAGE3 UBE2T TAF1 B3GLCT EBP PIGQ SLC3A1 NDUFV1 KCNA2 SPTB FZD4 CRKL ALG9 RAD51 GBE1 HBA2 NME8 ALG12 CAV3 NECTIN1 ALDH7A1 CHRNG ODAD4 NDUFAF1 INPPL1 DDX6 HADHB PIGG TMEM237 TREM2 FBLN5 ABCA3 TMEM107 TGFBR2 ENPP1 MEI1 COX15 CLCNKB DNAH1 PRUNE1 KCNB1 GATA6 RASGRP1 CLIP2 DUOX2 FANCE COQ2 ABHD11 IKZF1 MCM10 FLT4 BSND ALG8 MMACHC KIF20A SNAP25 MYH3 LETM1 CASP10 ACTA1 LORICRIN IGF2 NDUFB11 HESX1 NLRP3 FANCI CAMKMT NUP88 RET COL3A1 DNAAF1 F8 STX1A GABRA5 PAFAH1B1 TP53 COL12A1 SNRPB RPS19 SLC35A2 SFTPB CACNA1B SPAG1 FANCL ABCA12 CHMP2B TGFBR1 PSAT1 TRIP13 ASXL1 MAPK1 KCNJ11 EPHB4 IQSEC2 TRDN DNAL1 GAS2L2 SOX17 PIGY RPL11 WDR73 SMAD2 NDUFB10 SCN4B CLTCL1 DHDDS NDUFAF8 OTX2 PRKG1 FGA SCN8A MT-ND3 DNAAF6 PLAGL1 DNM2 NDUFS6 UFD1 RNU4ATAC THPO MRAS YWHAG RIPK4 UNC45B SYNGAP1 SMC3 LZTR1 MAT2A FGF12 IGF1 FGB PTCH1 SCN10A DYNC2I1 RALGAPA1 CCDC40 TAPT1 SMC1A GTF2IRD2 MED12 ZBTB42 LDHA SMAD3 DYRK1A SPTA1 VPS37D GRIP1 NUS1 FASLG XIST OFD1 F13B MAP3K20 SZT2 EFEMP2 SLC25A20 NLRP7 FANCD2 TRIP4 ALPL STK36 PEX6 GTF2I SLC35D1 HDAC8 MYL1 B3GALT6 GALK1 GNB2 CFAP221 CFL2 ARNT2 UROS ADA2 KRAS PTPN23 SLC12A1 VANGL2 PDHA1 AMMECR1 MAPT TRPV6 HOXD13 COL2A1 C9orf72 NR1H4 RSPO2 PKHD1 SYNJ1 MCTP2 CRB2 F13A1 TGFB2 SPTBN1 TP63 DNAJB13 TCTN1 HBA1 CHRND PEX10 CDKN1C EFNB1 MGP ITGB3 NUP188 CLTC ODAD1 TBL2 MEGF10 RFWD3 MCM4 TRAPPC12 RSPH3 HEY2 EP300 ERF GABRA2 OTUD5 WDR4 PADI6 TRAIP ERBB3 PEX16 RPS20 HSPG2 TMEM231 MAFB NPC1 ERGIC1 F12 FOXF1 MADD FOXH1 PPP1CB DNAH11 COL13A1 RPGRIP1L FGFRL1 DPM2 FOXRED1 CFH CPLX1 LBR SLC25A26 PLPBP TMEM67 SPINT2 CALM1 AGTR1 GMPPB SMN1 RPL26 NODAL COL11A2 DNAJC30 MYLPF SERPINH1 SYT2 NPC2 GRN CDKN2A NDUFB9 CEP55 BCR COL5A2 REN ACTL6B TP53RK NR3C2 CHD7 ITGA2 RPGR GTF2H5 HIC1 NEK8 MTMR14 TXNDC15 SETD1A SERPINE1 RAD21 TALDO1 ITGA7 SEC24C PTPN11 GP1BA RPL27 CLCN7 DNA2 ALPK3 NDUFAF4 GPHN JMJD1C DNAAF2 PRPS1 ORC1 HBB MYL9 MYH11 IARS1 MPZ NDUFAF2 TRAF7 NDUFV2 MECOM ASCC1 DNAAF4 NUP107 MYH7 GLI3 PBX1 NKX2-5 FANCA SHPK SOX2 DPAGT1 RPL15 DHCR7 ACTA2 KCNE2 PARS2 KLF1 MT-ND2 NDUFAF5 SLC9A3 TSFM CCDC22 DNAI1 KIF5C UBA1 NEK10 PLOD1 KANSL1 BNC2 RHD SCARF2 CREBBP COQ7 LGI4 TBC1D24 NDUFS2 WT1 GTF2E2 SQSTM1 GPKOW RPL31 NDUFA1 PEX2 CPT1A ASCL1 ABCB11 KIT RASA1 PUF60 MTHFR USP9X WNT3 GATC KCNJ6 ALX4 NUBPL FANCF CHRNA1 PMM2 PEX14 ARVCF TDGF1 SFTPC NOS1AP NFASC SARS2 AFF2 DLL1 RREB1 WASHC5 ATN1 RPS17 MAMLD1 SLC5A7 PAH REC114 LRRC56 SUFU HS2ST1 CNOT1 NSD2 GDF1 RPS15A LONP1 RBPJ FLVCR2 EXOSC9 EOGT GTF2IRD1 RAI1 MYCN ERCC5 COX14 FOXE3 SPEN STK11 SIX3 NDUFS7 LRP5 FLII C1QBP IRF6 RPL35 PIGV RPL35A COL6A2 ALG14 GLB1 POLR2A TGFB3 KCNQ1 HELLPAR ATAD3A RAC2 ADARB1 CSPP1 GABRG2 TSR2 CD109 TPRKB FERMT1 EMC10 TBX5 TMCO1 NIPBL SEMA3E FGF8 KIF14 ATP6V1B2 PDSS2 AGT LIFR NDP RHAG XRCC2 RNF13 FGF20 MYMK RPL5 MRPS22 AMER1 YWHAE SLC26A3 SOX9 ANXA5 SPOP SHH KCNE1 FANCC CALCRL NDUFA6 MFAP5 DSP CHUK INVS SLC12A3 DNAAF11 CFAP298 GAS1 HYDIN PLVAP PGAP3 MAD2L2 LEMD2 CDAN1 AP3B2 HOXA13 GNPTAB PEX11B WRN SMARCD2 TTC37 BIN1 PCGF2 GPC6 SLC17A5 DHPS MCIDAS DYNC2LI1 RPGRIP1 THOC2 FUT8 GJA1 LAT2 HSPA9 AKAP9 GJB2 AGRN CFAP300 NDUFA11 KCNJ5 ASXL3 FOXJ1 SMARCAL1 AGGF1 RPS7 ZMYND10 CYP19A1 LIMK1 SF3B4 BAZ1B ARHGAP31 HSD17B4 FDXR DNAI2 NDUFB3 RNF2 POLR3A CCBE1 SLC16A2 HNF1B ADAMTS2 PIGO ADGRG6 SLC25A19 PPM1B EBF3 KDM3B CEP57 RSPH9 CYP11B2 LHX1 PTRH2 JUP TIMMDC1 ANK2 PEX13 WNT7A CCDC103 YARS1 FLI1 MOGS BICD2 PRKCD FKBP6 DNAAF5 OSTM1 CLDN4 RASA2 NPAP1 FANCG MLXIPL NSF TCTN2 ASAH1 DISP1 BRIP1 TMEM126B HTR1A SNORD115-1 FANCM PALB2 CD46 HP_TRIPHALANGEAL_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRIPHALANGEAL_THUMB LMBR1 SF3B4 TBC1D24 RPS28 RPL11 SALL4 ATP6V1B2 RPS15A XRCC2 FANCB RPL27 MAFB ADA2 PIGB SALL1 TBX5 RPL18 RPL5 BRCA2 RPS20 FANCE DLX5 PIGF RPL31 KCNN3 RPL35 RPL35A FGFR3 TP63 FGFR2 FANCI GLI3 RPS29 FANCF RPS10 RPS19 GATA1 RPS26 SHH FANCC FGF10 SLX4 RPL15 RPL26 FANCA UBE2T TSR2 FANCG KIF7 FANCL TWIST1 RAD51 RPS7 BRCA1 RPS17 BRIP1 FANCD2 RPS27 RFWD3 DACT1 RPS24 FANCM ERCC4 PALB2 MSX2 CHN1 MAD2L2 RAD51C HP_DISTAL_SYMPHALANGISM_OF_HANDS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_SYMPHALANGISM_OF_HANDS TFAP2B NOG IHH GDF5 BMPR1B HP_ABNORMAL_FINGERTIP_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FINGERTIP_MORPHOLOGY PALS1 JARID2 PTH1R MYT1L TBL1XR1 KMT2E CCDC32 RTEL1 RPS23 RASGRP1 RAB3GAP2 INTU ZMIZ1 KMT2D ZMPSTE24 DSP DPP9 BCOR WASF1 EIF2AK4 NTNG1 KANSL1 MUC5B LAMB3 TERT KDM6A WDFY3 WAC EMC1 SFTPA2 TRIP12 MAP1B SLC12A2 SVBP TANC2 MED27 NLRP3 GRIA4 CD55 EZH2 CNOT3 ACTL6B KCNMA1 NCKAP1L SLCO2A1 ARID1B PSMB8 TCF20 HNRNPH2 TCF4 HUWE1 KAT8 DPYSL5 HS2ST1 SFTPA1 BPTF SLC34A2 PUS7 DDX6 PTPN23 IL21 CREBBP MED13 UBR7 PKDCC LRBA NTNG2 PAK3 CTCF FCGR2A MED12 LAMC2 CFTR DOCK3 STK11 ABCA3 HSPG2 BMPR1A MED12L RLIM TERC ACTL6A ZNF292 MAPK8IP3 HPDL TGFB1 FAM13A HTT LAMA3 BCORL1 SFTPC KDM4B FOXP1 SRCAP TNRC6B NAA10 PSMD12 ATP11A TRMT1 EP300 STN1 TRAPPC4 PTEN SATB1 PARN FBXW11 AGO2 TLL1 CHD1 MADD SLC5A6 HP_DELAYED_OSSIFICATION_OF_CARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_OSSIFICATION_OF_CARPAL_BONES MATN3 TRPV4 HOXA13 PTH1R LONP1 EXTL3 BGN UFSP2 IHH COL2A1 PIGV MBTPS1 TRIP11 RMRP TONSL HP_CLUBBING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLUBBING KRT10 GJB6 HLA-DRB1 RTEL1 PRKACB CFAP221 DNAH1 RASGRP1 ODAD2 SLCO2A1 RSPH4A INTU HPGD DNAAF2 BRCA2 VPS51 DSP DPP9 FANCE MPLKIP RHBDF2 EIF2AK4 CDC45 MUC5B DNAH9 TERT SMARCAD1 MCIDAS SCNN1G SMAD4 ABCA12 DNAAF4 FANCI TTC12 ACVRL1 DNAAF1 DNAJB13 SLX4 SFTPA2 CFAP300 FANCA BMPR1A SMARCA2 CCNO DRC1 CCDC65 FOXJ1 NLRP3 SPAG1 FANCL BTNL2 TARS1 ZMYND10 DNAI1 NEK10 ODAD1 CD55 RNF113A IL6ST NCKAP1L RFWD3 RSPH3 PIGL PSMB8 SCNN1A DNAL1 ERCC4 GAS2L2 SPEF2 ENG DNAI2 CCDC39 XRCC2 FANCB SFTPA1 SLC34A2 DNAAF6 MARS1 IL21 TCF4 VPS33A GTF2E2 ODAD3 RSPH9 LRBA ERCC3 DNAH11 SFTPB DNAAF3 FCGR2A PTH1R CCDC40 CCDC103 ERCC2 SCNN1B CFTR STK11 ABCA3 HSPG2 FANCF SFTPC TERC GAS8 FANCC TGFB1 RSPH1 DNAAF5 FAM13A UBE2T FLNB FANCG OFD1 RAD51 NME8 ATP11A BRCA1 STN1 UBE2A POLA1 DNAH5 PTEN ODAD4 RPGR BRIP1 FANCD2 PARN GTF2H5 TLL1 DNAAF11 CFAP298 LRRC56 HYDIN FANCM PALB2 STK36 MAD2L2 SLC5A6 RAD51C HP_AUTOAMPUTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTOAMPUTATION RETREG1 CCT5 KRT1 RAB7A MPV17 GJB2 ATL1 NTRK1 TGM1 SPTLC2 NGF KIF1A SPTLC1 WNK1 SCN9A HP_ABNORMALITY_OF_THE_THENAR_EMINENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_THENAR_EMINENCE RPS29 RPS28 RPL11 RPS10 HOXA13 GATA1 RPS26 RPS15A RPL27 FGF10 ADA2 RPL26 TBX5 RPL18 RPL15 TSR2 RPS19 RPS20 RPL5 RPS7 FGD4 RPL31 SALL4 RPL35 FBXW11 RPS17 RPS27 RPL35A RPS24 FGFR3 FGFR2 HP_BROAD_METACARPALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_METACARPALS DNMT3A FBN1 GNAS NPR2 DDR2 FGFR1 ADAMTS10 BGN PDE4D MMP2 GDF5 BMPR1B GLB1 SLC26A2 EXTL3 MMP14 IHH HP_ABNORMAL_FINGERNAIL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FINGERNAIL_MORPHOLOGY TFAP2A GTF2I SLC35D1 RBPJ KCNH1 KRAS EOGT SLCO2A1 GTF2IRD1 KRT6B GNA11 BMPER INPPL1 GJB6 DYNC2LI1 TERT EBP GPR101 EDARADD TERC MBTPS2 EDAR LMX1B NHP2 GJA1 COL7A1 KRT1 CDKN1C SCN9A WNT5A GJB2 TP63 EFNB1 TRAF6 AIP IFT43 EZH2 DPF2 PLAGL1 RNF113A NXN METTL27 TBL2 PEPD ARID1B PLCD1 MAP2K2 ATP6V1B2 SHOX CLEC7A SMARCB1 PLEC PIGN COL11A1 PLAG1 ZBTB20 PARN PIGF DKC1 NOP10 ITGB4 ERCC3 SLC39A4 ROR2 ZMPSTE24 LRP4 BMPR1B ERCC2 LMNA WDR19 LBR IKBKG NCF1 PEX6 TINF2 RFC2 HYMAI IL17RA SMARCC2 DNAJC30 SF3B1 NPM1 IL17F CTSC SMARCD1 IFT122 PSENEN COL17A1 FGFR2 BCL7B KRT17 GTF2H5 ARID1A IL11RA KRT9 SOX4 ARID2 SHOC2 DVL1 CLIP2 KRT16 EVC EVC2 MPLKIP ABHD11 WNT10A ELN TRAF3IP2 SMARCE1 RUNX2 IL17RC NOTCH2 IGF2 GLI1 EIF4H LAT2 CENPT HMGA2 STX1A NSUN2 BRAF AFF4 CASR IFT52 KIF1A TET2 SMARCA4 KCTD1 TARS1 BUD23 MTX2 CCDC22 RETREG1 HRAS KDF1 LIMK1 PPP1CB CLDN3 PKP1 PEX1 TBC1D24 BAZ1B PTDSS1 ARHGAP31 STAT3 SUZ12 KRT5 KRT14 DLL4 TBX3 DVL3 LIG4 PERP GTF2E2 RTEL1 POGLUT1 MAP2K1 WRAP53 PIGO ZNF462 USB1 GTF2IRD2 KCNN3 SOST MACROH2A1 NOTCH1 PITX1 HPGD KRT74 CTSK FKBP6 NSD1 CTC1 CLDN4 GDF5 DOCK6 VPS37D CSTB MLXIPL POFUT1 COL11A2 NECTIN1 MSX1 FZD2 RPS6KA3 WASHC5 TMEM270 EED WDR35 AIRE SOX11 WNK1 TRPV3 KRT6A HP_2_3_FINGER_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_2_3_FINGER_SYNDACTYLY PITX1 FANCF FGF10 SOST DSP JUP GPC3 GPC4 LRP4 WDPCP FGFR3 FGFR2 HP_SLENDER_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLENDER_FINGER NSD2 SEC24C C1R FSHR BICRA TGFBR2 B3GALT6 UBE3B WDR73 SATB2 GNB2 COMT NUP107 FBN1 PQBP1 FGFR2 POR ATRX JMJD1C SLC9A6 SLC2A10 UPF3B FOXE3 FLNA MYH11 SH2B1 PTCH2 EFTUD2 KANSL1 CPLX1 POLR3H BPTF PIEZO2 KIF22 TRMT10A COL3A1 COL6A2 ALG14 BMP1 TGFB2 TGFB3 ABL1 SMAD3 NELFA COL12A1 ZDHHC9 ASXL3 BNC1 ZEB2 DSE ZNF469 DPAGT1 HERC1 FGFR3 SIN3A ACTA2 SMARCE1 TGFBR1 B4GALT7 MED12 NKAP MAPK1 PLOD1 CBS HIRA PEPD SCARF2 HEY2 HNRNPH2 PYCR2 CHST14 MFAP5 MYLK MIR140 TBX1 PRDM5 SMAD2 NPR2 CTBP1 PRKG1 FARSA FBN2 PACS1 PHF8 SMS SON OTUD6B NALCN UFD1 LOX CYP26B1 AMER1 HYOU1 MAT2A PPP1R15B UNC80 USP9X PAPPA2 MAPK8IP3 ELN SPIDR STUB1 GP1BB COL2A1 BMP15 SKI SOX6 PTCH1 OSGEP MRPS22 CHRNG ARVCF LETM1 SUFU ACTG2 CTSC CNTN1 CRKL VPS13B AEBP1 BCR NARS1 RREB1 DLG4 MTM1 EFEMP2 COL11A1 COL6A3 NR5A1 LAGE3 PIGG LFNG COL6A1 PSMC3IP FBLN5 SMAD4 HP_WRIST_FLEXION_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WRIST_FLEXION_CONTRACTURE FLNA ADAMTSL2 MEG3 PRG4 ERLIN2 RTL1 DDR2 ASXL1 COL12A1 TBX15 MAP3K7 CAPN3 TUBB3 MYLPF HSPG2 ESCO2 MECP2 ERGIC1 FBN2 MMP2 MYH3 COL6A2 DHX16 DLK1 ANO5 COL6A3 COL6A1 HP_CAPITATE_HAMATE_FUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAPITATE_HAMATE_FUSION EVC FLNB EVC2 ATP7A GLI1 FGFR3 DYNC2LI1 FLNA HP_SMALL_THENAR_EMINENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_THENAR_EMINENCE FBXW11 TBX5 SALL4 HOXA13 FGD4 FGFR3 FGF10 FGFR2 HP_LETHARGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LETHARGY NDUFS4 MCCC1 RPS28 SIM1 DLL1 SLC25A15 NDUFS1 ABCC8 RPS15A ADA2 PTCH1 RPL18 NAGS ZIC2 ATP5F1D MMADHC CDKN2B NDUFS7 MEN1 HNF1A IVD RYR1 CYP11B2 RPL35 GABRB2 TDGF1 FGF8 MTHFR RPL35A UCP2 ASS1 SLC25A19 HFE GATA1 KRT8 HADHA MT-TT LHX4 DISP1 SIX3 MMUT TSR2 TSHB FGFR1 MRPS16 POLG2 POU1F1 SLC19A2 HADHB GCSH GAS1 EIF2B5 FOXH1 GLDC SIK1 TH CPT1A RPS27 LYRM7 NDUFS6 DLD GLI2 NODAL STAG2 PROP1 BCKDHB SLC1A2 ASL ACADS OTC ABAT NDUFAF3 FBP1 NFU1 RPS20 MMAB AVP RPL5 CPS1 LHX3 ACADVL DUOX2 SHH MAGEL2 HESX1 SLC22A5 FOXRED1 RPS29 LMBRD1 RPS10 RPS26 EIF2B2 ALDOB ACADM NDUFA6 RPL26 PCCA TGIF1 NDUFB10 PDHA1 SLC7A7 SLC4A1 GCH1 USP8 NDUFV1 SLC19A3 MT-ND1 GALT RRM2B GK NDUFB9 SLC25A4 BOLA3 CDON NDUFS8 MTRR NDUFAF1 ATP13A2 RPS24 PIGA NAA10 SLC39A4 SLC2A1 NDUFS2 HNF4A PAX8 SLC25A20 IYD RPL27 AMT BTD MMAA CA5A COX5A SMC1A SLC5A5 NAXD HLCS NDUFAF4 POLG MMACHC TSHR CDKN1B NDUFAF2 YY1 NDUFV2 MCCC2 CYP24A1 GYS2 NDUFB11 EIF2B1 NDUFA11 TG TCN2 RPL15 HADH RPS19 HJV TSPOAP1 MT-ND2 NDUFAF5 ACADSB RPS7 SLC25A22 DPYS KCNJ11 NBAS KRT18 BNC2 ATP5MK ABCD4 HMGCL RPL11 NDUFAF8 TLR3 MT-ND3 SUGCT SLC25A13 RPL31 NDUFA1 DUOXA2 CPT2 TIMMDC1 BCKDHA HAMP PCCB EIF2B4 ASPA NFS1 NUBPL NDUFS3 TRHR TWNK CDKN2C USP18 CDKN1A TPO MT-CYB PRDX1 NDE1 DPYD CDH23 EIF2B3 RPS17 NDUFB3 RMND1 TMEM126B DDC TBK1 DBT HP_INTELLECTUAL_DISABILITY_MILD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTELLECTUAL_DISABILITY_MILD SARDH RAD51 KMT2E CCDC32 HMGA2 RNU4ATAC NF1 MGP KCNJ8 FAT4 SRPX2 TBC1D2B L1CAM SFXN4 VPS16 SDCCAG8 NSUN2 ADAR SELENOI GRIK2 APC PGAP1 EXOSC2 AIMP1 GORAB H19 RAF1 SPG11 WDFY3 NGF WASHC4 ERCC8 SARS1 NTRK1 SH2B1 HIVEP2 RUBCN GRM7 FGF14 KDM5B NFE2L2 RTN4IP1 UBE4A MSTO1 ALG1 MAN2B1 DARS1 ATP2A2 PYCR1 UFSP2 NDST1 CDH15 SIN3A EXT2 SYN1 GRIA4 GDI1 MECP2 DCAF17 DAG1 ADAMTS10 ACTL6B CSNK2B KCNMA1 ZMYND11 TRAPPC9 TRPM3 ATL1 NKX2-1 STXBP1 HUWE1 MIA3 COG1 CRBN BPTF CARS1 CDKL5 PTPN23 SMS BRAF PTEN MAN1B1 UBR7 RSPRY1 FZD4 GMPPB DNAJC12 CABP4 AFG3L2 ZFR CUX1 RAI1 EDC3 HPDL PQBP1 SLC2A1 BCORL1 B3GALNT2 KDM4B SRCAP NAGA NDP PSMD12 NARS2 COG5 SMARCA2 FBN1 AGO2 PTPN11 SLC35A3 DLL1 SOX3 FRRS1L ANO10 JARID2 SPEG SEC24C PEX10 PLP1 MBD5 COMT PNPLA2 ZMIZ1 SOX11 JMJD1C DCC WASF1 DMPK CRH SIN3B EPB41L1 DEAF1 BRSK2 SLC29A3 MAGEL2 MECOM LINS1 CAMK2B NSDHL UPF3B SHH FLNA ABCC9 JAG1 SVBP NUP62 CSTB TANC2 AASS DLK1 WDR48 TSPOAP1 SETD2 MED27 TAOK1 KIRREL3 SNRPN GTPBP3 TAF13 HNMT ASH1L SYNGAP1 CNOT3 RAB11A MEG3 MT-TL1 KANSL1 HIRA PSMB8 TCF20 DNAJC21 TBX1 POMT1 KAT8 ACOX2 EEF1A2 SLC12A2 PHF8 KIF1A GRIN2B PEX11B RYR1 CAMTA1 SLC45A1 PRRT2 GRIN1 ERMARD ZNF462 LRP5 ALX4 DOCK3 LEMD3 NDN FKRP ARVCF CA8 RPS6KA3 PNPLA6 NCDN SRY POMGNT1 POMT2 RREB1 CEP57 TRMT1 TRAPPC4 CC2D1A SATB1 FBXW11 CRADD HPRT1 CAMK2A MADD CHRNB2 FIBP MYT1L THOC2 ZNF408 CHRNA4 KIF11 PDSS1 MT-TN BRWD3 EYA1 PCNA NTN1 C12orf4 GLI3 MARS1 GABBR2 RTL1 NTNG1 ATP6AP1 DYM GATA4 RARS1 AGL KCNT1 SBDS CLTC KCNQ5 NBEA CLCN4 INPP5E BCOR CDK6 FGD1 MED25 GNPTG POLA1 PGAP2 APC2 ZC3H14 SPART RNF135 EMC10 MASP1 TECR ANK3 MED23 DMD PRPS1 TH EP300 BLM ZC4H2 NLGN4X IQSEC1 CHRNA2 LMAN2L CLIP1 FGFR2 ACTB HS2ST1 GRIA3 METTL23 CUL3 PUS7 PRSS12 SETD1B SCYL1 MTRFR LTBP2 AMER1 ST3GAL3 NFIX PIK3CA GPAA1 GPSM2 KCNC3 ALAD BIN1 TFAP2A DCPS POLR3A DONSON NONO HDAC6 RLIM YY1 TKT OCA2 ACTL6A SUFU AP3B1 MAPK8IP3 RCBTB1 TRIM37 TTN TTC37 MT-ATP6 HPD GALT HINT1 FOXP1 TTC5 ARID1B FBXO31 FMR1 FLCN RSRC1 PRMT7 MTHFD1 UBE3A POGZ MT-TL2 EZR PALS1 C12orf57 TFAP2B IGF2 MARS2 VPS13D SRP54 TBC1D24 PITRM1 RAB3GAP2 PCDH19 GBA2 CHRNA7 SPTBN2 CHAMP1 ARX ERCC4 NSD1 WAC FMN2 ABCA2 DNAL4 STAC3 DLAT ACVR1 CIC TRIP12 ALKBH8 CACNG2 PAFAH1B1 MSMO1 DNMT3A DEPDC5 POLR3B TNIK GLB1 KIF1C DPYD BSCL2 SMC1A HMGCL SKIV2L DPYSL5 B4GALNT1 ATP13A2 PIGC PIEZO2 ERCC6 CTNNB1 SLC16A2 DDX6 UFD1 TRIO MED13 SETBP1 POMK MBOAT7 CPLX1 MLC1 NTNG2 IGF1 ACP5 MT-TS1 AKT1 SET GP1BB GNE TCF4 BMPR1A HEPACAM TSPAN12 DYRK1A MED12L POU3F4 THG1L DOCK8 HTT DNAJC3 BRF1 CTDP1 PPP3CA TNRC6B TUSC3 TAC3 KLF13 ACAT1 MAP3K7 DYNC1H1 KCNQ1OT1 NEMF SLC25A24 HP_SPASTICITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTICITY PRDM8 SLC25A15 SATB1 PIGA MECR PPARGC1A DCTN1 CACNA1A TAF15 RTN2 ERCC8 EIF2S3 NDE1 DPM1 RNASEH2A NSUN2 ATXN3 PNPLA6 GRIK2 APC AIMP1 CCT5 DNMT1 DLL1 GABRB2 TDGF1 TRAPPC4 WASHC4 SPTAN1 STN1 CTNNA2 AMPD2 ALS2 SLC39A14 HLA-DQB1 FARS2 CDK19 DHCR24 SLC13A5 ADAM22 SPG11 KDM5B ERCC2 UBE4A NKX6-2 ATXN10 DNAJC6 KRAS SIX3 MRM2 AGA ZEB2 NEXMIF MT-ND1 TUBG1 KIF5A MATR3 IFIH1 SAMHD1 TBK1 ATXN7 GPHN TECPR2 MT-ND4 EZH2 CNKSR2 LIAS FOXH1 KCNA1 JAM3 ANXA11 FGF8 MTHFS BCS1L TUBB3 TRPM3 ATL1 ARF1 TDP1 LIPT2 NTRK2 HMGCL ERCC3 MT-ND2 TRAK1 MCCC2 MAPT GPT2 GLI2 CDKL5 SLC19A3 OTUD6B SLC1A2 CYB5R3 ALDH18A1 SHH TMEM67 PDHX PEX3 NDUFA8 STXBP1 VPS41 PLP1 NAGA NDUFC2 RANBP2 SYNE1 PEX7 MAPK8IP3 TACO1 SCN2A HSPD1 AFG3L2 PQBP1 CTNNB1 SLC2A1 SIK1 ZFR UBQLN2 CACNA1D AP1S2 GLB1 OSGEP NCF1 CUX1 FA2H ERCC4 ELOVL4 ATRX CLIC2 TGIF1 GLRA1 PUM1 WASHC5 RARS2 SLC25A10 KIF1A TSEN2 NDUFV2 B3GALNT2 RFT1 RNASEH2B RNASEH2C CLP1 UGDH SETBP1 SELENOI DSTYK ATP6V1A TPI1 EIF2AK2 BCL7B CNOT1 PTCH1 GCDH PLA2G6 DISP1 LMNB1 UBA5 MT-TF CCDC88C DMXL2 DNM1 NEFH RERE NTNG2 SCYL2 ACER3 MBD5 ALG11 L2HGDH MT-ND5 RAB3GAP2 ATP6AP2 COG2 MACF1 CDC40 PGAP1 MPLKIP KDM5C FBXO7 CYP27A1 HSD17B4 FUCA1 SIL1 EPB41L1 CAPN1 TRMT5 DEAF1 PET100 GBA ELN SACS CHP1 COL4A2 NODAL KIF1C IARS1 SERAC1 EIF4H SETX LMX1B PANK2 SPR RAB18 TREM2 NDUFA12 GALC UNC13A NDUFS2 HPRT1 ZNF335 NDUFS3 PFN1 KIDINS220 SRPX2 INPP5K FTL CYFIP2 NUP62 COPB2 HNRNPA1 FGFR1 WDR48 MT-TK DNM1L TAOK1 WDR45 ARX IDUA TARS1 AARS1 BUD23 HNMT GOT2 SCN3A SYNGAP1 NDUFA13 HTT COX8A OSTM1 OPA1 PSAP NHLRC1 B4GALNT1 TFG GRM1 CLDN3 LRRK2 UCHL1 EEF1A2 FIG4 FAR1 PON2 ODC1 GJC2 ACP2 TIMM50 SLC12A2 MED27 LYST PHGDH TBCD EXOSC3 BCL11B POLR1C POLR3GL WWOX AUTS2 TXN2 CLPB PRRT2 SDHB CASK ERBB4 PEX12 MECP2 PEX16 ERCC5 PPP3CA EXTL3 ADAT3 ATP6V1E1 SOD1 CLN8 ANG GRIN2D KY ATP13A2 AP4M1 GBE1 SDHA TOE1 NCDN SOX2 SPAST INTS8 GBA2 ELP2 POLG MT-TI VPS11 SCN4A TMEM270 EXOC8 PLCB1 OPA3 CRADD ECHS1 SUCLA2 PNP APOE SYNJ1 NDUFS4 REPS1 IREB2 ALDH3A2 MT-TP EARS2 COA8 GABBR2 SLC30A10 SIGMAR1 OCLN EDNRB ATAD1 PIGQ CLTC HEXB RTTN CLCN4 ADSL GAN NUP214 APC2 IBA57 ERLIN2 TARDBP GLYCTK ZIC2 VAPB TELO2 TPRKB PCYT2 KMT2B HPDL MARS2 ZC3H14 ISCA2 PAX3 NDUFA6 GM2A MAG ANK3 MED23 RNF113A METTL27 CYP2U1 AUH WDR62 CELF2 DLD NOTCH3 NALCN WDR73 ERLIN1 REEP1 TTC19 CLIP1 CACNA1G FOXG1 ACP5 PPP1R15B HCN1 ROGDI ZC4H2 METTL23 PHACTR1 VPS4A NIPA1 PRSS12 C19orf12 SON ACTL6B SCYL1 NADK2 ATP2B3 NACC1 WDR45B MT-TW XPA ATXN8OS RAD50 COL4A1 NT5C2 POLR3A SETD1B VAMP1 AGTPBP1 IKBKG ZNF592 KCNJ6 ARV1 RFC2 FUS XPC ATXN2 TAF1 NDUFAF4 CYB5A FGF13 MT-ATP6 KCNA2 DDB2 FOXP1 RSRC1 ALG3 BOLA3 NEU1 NEK1 PEX13 PDHA1 TGFB1 NEFL SLC25A22 AARS2 STUB1 RAB11B MAN1B1 DDHD1 VPS13D STAG2 PRUNE1 KCNB1 CLIP2 MRPS34 ABHD11 EPM2A ABCD1 EDC3 GSS OPHN1 CKAP2L DARS2 NTNG1 NEUROD2 GABRA5 FDX2 ADGRG1 DDHD2 NDUFAF6 UFM1 WDR26 STX1A CIC EIF2B1 MOCS2 GRIA4 PRKN AMACR NDUFA10 MTPAP CACNG2 CACNA1B AASS SCO2 PSEN1 MTRFR ARSA EXOC2 SMC1A TCTN2 WARS2 BSCL2 SNCA GRIN2B ERCC6 NDUFV1 PYCR2 SIX6 NDUFAF5 DHDDS VWA3B SUZ12 POLR3B ATAD3A SCN8A GNAO1 KLC2 HACE1 ITM2B TBC1D23 ALG9 VPS13C PI4KA YWHAG MBOAT7 STAMBP MLC1 FGF12 NDUFA4 KCNQ2 RALGAPA1 GLT8D1 SOX4 GTF2IRD2 MT-ND6 ASPA METTL5 TCF4 PPIL1 MED12L CTSD REEP2 DOCK8 PRPH VPS37D NUS1 NDUFB8 MTFMT SURF1 TUFM SZT2 TSEN54 MCOLN1 EED EIF2B3 NDUFAF2 AP4S1 DYNC1H1 SNX14 TBCE SPG7 NEMF TREX1 MCCC1 SEPSECS ANKLE2 TAF2 GTF2I EML1 CNTNAP2 POU3F3 PTPN23 L1CAM RAB3GAP1 ADAR TTR AP4E1 PTS CHMP2B SLC18A2 LINGO1 PRNP GCH1 MED25 SARS1 HIVEP2 SPTBN1 GRM7 MFF MAN2B1 CNPY3 DARS1 ZFYVE26 UFSP2 NDST1 CDH15 ZFYVE27 SUMF1 SLC16A2 SOX10 DDX3X COQ5 CSNK2B PIGP TBL2 ZMYND11 TRAPPC9 TRAPPC12 SLC6A5 GABRA2 ARG1 CACNA1E SATB2 CRBN KIF2A SLC35A2 NPC1 PNPLA8 CYP7B1 AP5Z1 SPATA5 WDR4 UNC80 RNASET2 LIPT1 SLC6A8 BEAN1 PDCD1 HUWE1 EPRS1 DNAJC30 UBTF MORC2 TP53RK CARS2 NPC2 PEX2 NDUFS8 NARS2 PEX6 ENTPD1 GTF2H5 ARNT2 FRRS1L RARS1 DYNC1I2 ISCA1 PEX5 ATXN1 TBP VCP TRIM8 YIF1B PSAT1 SQSTM1 PRPS1 ERCC1 NUBPL CNTNAP1 TMTC3 GPAA1 B4GAT1 PMPCA SDHAF1 GRIA2 NOVA2 BRSK2 DENND5A ASNS ATP7A LINS1 CSF1R CAMK2B HEPACAM PNKP GJA1 CDON SMPD1 SEC31A COX15 PINK1 PARS2 KIRREL3 RUSC2 STIL KIF5C ASH1L RAB11A FRMPD4 NDUFS7 SLC17A5 PPT1 GJB1 AP4B1 CLN5 PIGU MICOS13 VPS37A FLNA C2orf69 TUBB4A GTF2E2 SLC45A1 PON3 GFM2 GRIN1 OPTN KATNB1 GSX2 IRF2BPL USP8 FOXRED1 TBC1D20 TSEN15 COPB1 NAA10 SPG21 RPS6KA3 TMX2 CC2D1A CTC1 TSEN34 CAMK2A BTD SDHD GAD1 THOC2 EXOSC9 RPIA GTF2IRD1 KIF11 C12orf4 MARS1 TYROBP PCDH12 DYM MTO1 UBAP1 CFAP410 MTHFR LAMB1 TRMT10A KCNQ5 NBEA BCOR MT-ND3 PEX26 SCN1B BICD2 ABCC8 DNAJC19 ADARB1 GABRG2 SNORD118 PODXL MRE11 SPART SPTBN2 KANK1 GAS1 NDUFA2 EIF2B5 NECAP1 TECR CPT1C GATAD2B SHMT2 CIT TCF20 LYRM7 MYT1L IQSEC1 DCX LMAN2L GUF1 PEX10 KARS1 GFAP RNF13 CHMP1A ATM GRIA3 PON1 SLC25A12 MFSD2A MRPS22 ST3GAL3 PCLO GLE1 HTRA2 DCPS MED13L NDUFAF3 ARL6IP1 UFC1 PLAA EIF2B2 AFF3 FXN PEX14 SVBP MSL3 GLRB MOCS1 POMGNT1 POLA1 TTC5 FBXO31 PARK7 GTPBP2 ADD3 EZR SLC5A6 HLA-DRB1 HSD17B10 AP3B2 PEX19 MED17 PAFAH1B1 MYO5A COASY ARSI RAB27A FUZ EXOSC8 RETREG1 SLC1A4 CHAMP1 DHPS PMPCB C9orf72 TMEM231 CNP PEX1 FMN2 CHCHD10 NDUFA9 HTRA1 LAT2 MINPP1 RLIM ALKBH8 TANGO2 FLRT1 GLRX5 DEGS1 TIMM8A TUBGCP2 TPK1 TNIK CCNF LIMK1 KCNA4 PEX11B BAZ1B ABHD12 FDXR NR2F1 PIGC UGP2 MT-TL1 NDUFS1 LRPPRC KCNT1 TUBA1A SLC33A1 VPS53 SET EIF2B4 RNU4ATAC EPHA4 DAO AIFM1 TRIT1 FKBP6 CRLF1 NSD1 CLDN4 GDAP2 MLXIPL FBLN1 HIKESHI MT-TV DALRD3 GFM1 ASAH1 ATP6V0A2 COLGALT1 TUSC3 ACAT1 LAGE3 PIGN MFN2 HP_SPASTIC_PARAPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_PARAPLEGIA KLC2 FA2H ABCD1 OPA1 SLC2A1 VCP SURF1 L1CAM NT5C2 DDHD2 WASHC5 RTN2 PLP1 GBA2 RAB3GAP2 ARSI MT-ATP6 AP4E1 MARS1 SELENOI PNPLA6 PGAP1 UBAP1 CCT5 DSTYK VAMP1 PET100 GBA LAMB1 KDM5C AP4S1 ALS2 AP5Z1 FARS2 SETX NDUFA9 NDUFA12 NDUFAF6 NDUFS2 ERLIN2 IBA57 NDUFS3 KIDINS220 KIF1A MAN2B1 COX15 MTRFR AMPD2 ZFYVE26 PAX3 PEX3 ATP13A2 FLRT1 NDUFA10 KIF5A WDR48 ZFYVE27 STXBP1 HPDL DNM1L NDUFV2 TECPR2 MECP2 SLC16A2 SPART NDUFA2 MAG CPT1C NDUFA13 CYP2U1 NDUFV1 ATL1 SPG7 TFG MTFMT NIPA1 NDUFS7 REEP1 ALDH18A1 BSCL2 AP4B1 GAN NDUFA4 SLC25A15 VPS37A B4GALNT1 GPT2 NDUFS1 LYST CYP7B1 WDR45B PDHX SLC33A1 HACE1 TACO1 AP4M1 HSPD1 SDHA LIPT1 ARL6IP1 ZFR SLC19A3 GJC2 CACNA1D USP8 FOXRED1 AIFM1 ATRX KY GBE1 TOE1 UCHL1 SPG11 SPAST DDHD1 INTS8 NDUFS4 RNASEH2B C19orf12 CAPN1 NDUFS8 REEP2 NDUFAF5 ENTPD1 NDUFAF2 PDHA1 ECHS1 SPG21 HP_COMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMA CFHR1 NDUFS4 MCCC1 HNF4A SLC25A15 ABCC8 SLC25A20 CFH MMAA ATP7B GLUD1 HLCS NAGS HADHA NFKB2 CDKN2B UNC13D MEN1 CDKN1B FBP1 TLR3 HNF1A IVD CPT2 YY1 PRF1 AKT2 TICAM1 INSR MCCC2 RANBP2 GCK UCP2 ASS1 NNT HMBS TXNRD2 STXBP2 CTNNB1 NAXE MMUT UNC93B1 KCNJ11 SLC25A13 PDX1 POLR3K HADHB SQOR STAT3 ETFA APP CFHR3 CPT1A BRAF HMGCL KYNU ETFDH CACNA1A SCN1A AUH BCKDHB ASL TBK1 STX11 OTC MMAB CPS1 INS MC2R STAR ETFB BCKDHA PCCB SLC22A5 SLC7A7 ALDOB CDKN2C MRAP TRAF3 ACADM PCCA HADH CDKN1A PPOX SLC19A3 POLG GK IL18BP ATP1A2 ACAT1 PRRT2 DBT HP_DYSARTHRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSARTHRIA MME A2ML1 PRDM8 SATB1 MECR DCTN1 PDYN PDE10A SEMA3A ATXN3 SRPX2 GRIN2A ANOS1 GRID2 ALS2 VPS41 SPG11 FGF14 ERCC2 PIK3CA CBL NKX6-2 VCP ATXN10 DNAJC6 PUS3 IFRD1 CHRNE SOS2 VLDLR ATXN7 POLG2 TECPR2 FGF8 TREX1 MSH2 CHRNA1 TUBB3 SOS1 TDP1 PDGFRB MAP2K2 ANO10 TWNK ERCC3 TBP NRAS MAPT GPT2 SLC19A3 SEMA4A ALDH18A1 ADA2 POLG PLP1 RANBP2 SYNE1 TACO1 AFG3L2 SLC2A1 NCF1 FA2H ELOVL4 SLC13A3 ZBTB11 PUM1 ATCAY RFX5 RRAS2 RRM2B PROK2 SELENOI EIF2AK2 GNS RFC1 TBK1 BCL7B GJB1 PLA2G6 ATM LMNB1 SPEG CCDC88C NEFH RERE PEX10 PPP1R21 XPR1 PPP2R2B MPLKIP CYP27A1 CACNB4 DMPK HSD17B4 PRNP ATXN8OS SIL1 WDR81 NPPA CAPN1 MPL PET100 ELN SACS CWF19L1 HEPHL1 KIF1C EIF4H PEX2 PANK2 SPR NDUFA12 NDUFS2 HPRT1 NDUFS3 PFN1 FLRT3 NEFL WFS1 FTL SERPINI1 RRAS NUP62 CSTB ABCB7 SYNJ1 SCARB2 TARS1 BUD23 NDUFA13 NEB ATG7 CISD2 PSAP TPP1 NHLRC1 B4GALNT1 GRM1 CLDN3 SLC18A2 CLDN11 FIG4 SNCA GJC2 JAK2 POLR3GL PNKD ADPRS PLEKHG4 MAP2K1 CAMTA1 C9orf72 PDE8B GFPT1 PEX16 DCAF17 SOD1 GLE1 ATL1 ATP13A2 AP4M1 MTTP CA8 ADCY5 SYT14 AR GBA2 ARX ATP1A2 TMEM270 SLC20A2 OPA3 ECHS1 APOE TRAPPC11 FUS REPS1 MLH1 RIT1 HS6ST1 RNASEH1 FAR1 PNKP ALDH3A2 ATP1A3 SPTBN2 POU4F1 HPCA RAF1 MT-TE SLC30A10 NDUFS7 TBC1D24 ADH1C HEXB RTTN RFXANK HOXB1 VAMP1 GOSR2 KMT2B MARS2 TARDBP PRKCG PIK3R5 MYORG ERCC8 CTSF EZH2 RNF113A METTL27 SOX10 COQ2 NOTCH3 AUH GBA WDR73 ERLIN1 REEP1 SH3TC2 TTC19 CACNA1G ACBD5 KCTD7 PPP1R15B C19orf12 ATP2B3 RPS20 KCTD17 KCNC3 TOR1A MAG POLR3A ATP7B ZNF592 RFC2 SUFU TRIM37 TTN ATXN2 FOXP2 AAAS NKX2-1 MT-ATP6 MTRFR GALT NOTCH2NLC XK UBQLN2 PDHA1 SQSTM1 PGM3 FAM126A AARS2 PDGFB ERCC4 STUB1 FGFR1 VPS13D FMR1 RAB3GAP2 CLIP2 SPAST SNCAIP GCLC ABHD11 EPM2A ABCD1 NF2 SCN5A SCN8A GSS DARS2 SNAP25 NDUFAF6 WAC PCNA DCC MSH6 ADGRG1 DDHD2 ABCA2 MATR3 STX1A EIF2B1 KCNA1 AMACR NDUFA10 MTPAP PRKRA PSEN1 NDUFV2 ARSA EPCAM NDUFV1 OPTN UBA5 NDUFAF5 VWA3B SLC1A3 COA7 NDNF POLR3B SLC9A1 TGM6 KLC2 PACS1 TBC1D23 PMS1 THPO MRAS ATXN1 WIPI2 PI4KA WDR11 BIN1 LZTR1 GTF2IRD2 DLAT ERBB3 VPS37D FBXO7 MMUT EIF2B3 NDUFAF2 TBCE SPG7 MRE11 SURF1 GTF2I THAP1 RAB39B KRAS ADAR TTR GALC UROC1 WWOX NOP56 GCH1 AP4S1 RUBCN HMBS TGFBR2 ITPR1 RFXAP DARS1 PMS2 ZFYVE26 MLH3 SLC16A2 GIPC1 TBL2 CLN5 CACNA1A TACR3 GAN CCDC141 RNF216 CARS1 NPC1 TOP3A TTBK2 CIITA PNPLA8 CYP7B1 DMXL2 MKS1 FARS2 LIPT1 BEAN1 GLUD2 PABPN1 FAT2 RAI1 ELOVL5 DNAJC30 GSN UBTF ERLIN2 NPC2 SRCAP NDUFS8 HESX1 VPS13A NARS2 ENTPD1 GTF2H5 RARS1 DYNC1I2 PTPN11 ERCC5 PRICKLE1 GRHL3 NUBPL COX20 SAMD9L GPAA1 PMPCA TMEM240 TTPA CSF1R HEPACAM SLC35A1 GJA1 SEC31A COX15 BRAF JAM2 NUS1 SLC17A5 AP4B1 DNAJB6 GCDH KCND3 UBB SCO2 TUBB4A SLC7A6OS GTF2E2 XRCC4 RYR1 MICOS13 PEX6 VAPB RNU12 GFM2 FAN1 ZC4H2 SDHA MED13L IRF2BPL FOXRED1 NFASC FEZF1 INPP5K PRRT2 CTC1 SPRY4 SMS PRPH CNOT1 NEK1 JPH3 CCNF BMPR1A NDUFA9 RPIA GTF2IRD1 CHCHD10 MVK NUTM2B-AS1 PROKR2 FBXL3 AP4E1 XRCC1 SNORD118 SPART EMC10 NDUFA2 CHD7 EIF2B5 PIEZO2 LYRM7 MTFMT DCX SCN1A DUSP6 FGF17 TK2 ALAD SETX NONO EIF2B2 FXN APTX SLC25A4 ADD3 SLC44A1 HSD17B10 PRPS1 DRD3 COASY EEF2 FUZ PCGF2 IL17RD CLN3 COA8 MAN2B1 HTRA1 LAT2 STAC3 TMEM106B TANGO2 FLRT1 GLRX5 DEGS1 SMARCAL1 TIMM8A PLD3 DAB1 LIMK1 CP NSUN2 KCNA4 BAZ1B ABHD12 HMGCL MYOT CHD3 NDUFA4 CACNA2D2 NR4A2 NDUFS1 ATP8A2 EBF3 ELOVL1 CPLX1 COLQ HACE1 ATN1 EIF2B4 THG1L FKBP6 CLDN4 RASA2 GDAP2 MLXIPL FBLN1 NDUFS4 LRP12 SPG21 HP_EXCESSIVE_DAYTIME_SOMNOLENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXCESSIVE_DAYTIME_SOMNOLENCE MTRR PDGFB MUSK IL12A DNMT1 TERT CLCNKB HCRT TBK1 HLA-DRB1 SLC18A3 BAP1 PRPS1 MMEL1 TNPO3 COA8 DMPK FBP1 TLR3 SMARCB1 TNFSF15 NUP88 DOK7 TBC1D24 FKTN POMT1 TICAM1 DHCR7 ZNF365 SLC2A3 IRF5 MOG HLA-DQB1 FKRP SLC22A5 HMBS AKT1 TRAF7 PTS RAPSN TRAF3 CTSH CTNNB1 IL12RB1 POU2AF1 HTT MYOD1 PIK3CA NF2 UNC93B1 SMARCE1 SUFU P2RY11 TWNK POMT2 DPYS SPIB SLC12A3 ACAT1 LARGE1 TNFSF4 GJB1 BRAF SMO NAA10 HMGCL HP_SPASTIC_DIPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_DIPLEGIA HSD17B10 AP1S2 PDHX HUWE1 DARS1 RAB3GAP2 TAF1 FLNA TANGO2 ALDH3A2 GALC GLRX5 SOX2 AASS ELP2 PNP BCOR RAB3GAP1 HSD17B4 NDE1 NAA10 SIGMAR1 ALS2 NDUFA4 ACP5 PSAP TUBB3 SPG11 GCDH ADD3 FUS CTNNB1 PQBP1 SIX6 NTRK2 SPTBN1 HP_HYPOREFLEXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOREFLEXIA KLC2 MME EXOSC1 MPV17 KIAA0586 CNTNAP2 IARS2 CFL2 PDK3 CACNA1A FLI1 SLC18A3 MED25 LITAF TTR NEFL LDB3 WWOX GNAS SQSTM1 DNAJC6 SYNJ1 RTEL1 PMP22 GEMIN4 MPZ SLC25A19 TERT CDK19 RUBCN ATP6AP2 SLC13A5 COX6A1 DAG1 MSTO1 VCP RYR1 ATXN10 STX16 CHCHD10 IFRD1 PSAP MT-ND1 ZSWIM6 TSHB DMD TRPV4 MYO9A MDH2 POLG2 POU1F1 MT-ND4 CNKSR2 CLTC MT-TE POLG GABRB2 MEGF10 NTRK2 TWNK SLC25A46 GABRA3 MT-ND2 NGLY1 GABRA2 TRAK1 SCN9A ABCA1 GAN KIF1B PYROXD1 DARS2 SLC1A2 HSPG2 KBTBD13 FUS LHX3 PNKP FMR1 PIGN ALDH5A1 SLC5A7 COL13A1 DYSF ERCC2 POMGNT2 BEAN1 WARS1 ATXN2 ELOVL4 PPOX MORC2 SYT2 XPA RRM2B C19orf12 HDAC4 ATP6V1A TPI1 VPS13A NARS2 ACTL6B SLC25A1 FHL1 RFC1 FBLN5 TBK1 PNPT1 GDAP1 KLHL41 EGR2 GTF2H5 SIGMAR1 SEPTIN9 B4GAT1 UBA5 LRSAM1 DNM1 NEB COLQ PPP1R21 DNMT1 IYD SIL1 PIGB TK2 MT-ND5 SLC5A5 MYH14 SELENON HADHA MPLKIP CNTNAP1 TSHR DYNC1H1 HSD17B4 FGD4 PMPCA POMT2 TMEM240 WDR81 TRMT5 CHAT GBA LMNA COL4A1 PEX2 GRIA3 LPIN1 SLC35A1 RAB7A SMPD1 CRPPA CYFIP2 DPAGT1 ACTA1 LYST PARN MT-TK FKRP PARS2 TPM2 ADSS1 GRIN2A TARS1 AARS1 SCN3A COX8A RAI1 MFN2 FBN1 B4GALNT1 EEF1A2 PMM2 TBC1D24 AIFM1 B3GALNT2 TSPYL1 KCND3 GARS1 STXBP1 SMN1 MYPN CRYAB GTF2E2 TPM3 C9orf72 SLC25A4 POMGNT1 FLNC NARS1 EXTL3 QRICH1 ACOX1 ARHGEF2 DES GRIN2D PRKCG PPP3CA PEX5 BAG3 TDP1 GNB4 TRMU NFASC PNPLA6 POMK SPTLC1 AR REEP1 SMN2 TPO TINF2 LAMB2 INPP5K RXYLT1 STIM1 HK1 SUCLA2 NDUFS4 NDUFA9 EXOSC9 RNF170 DEAF1 ACD PEX1 KCNJ18 FLII ATP1A1 PIGG EMC1 NAGLU ARSA MT-ND3 FBXO38 PGM3 LARGE1 LHX4 TBCK MYOT KCNA2 BICD2 HNRNPDL LRP4 SNX14 GABRG2 TARDBP PIK3R5 MRE11 HADHB GCSH INF2 MAG NECAP1 DOCK3 RNF113A GLDC MCM3AP FASTKD2 MGME1 LMOD3 CELF2 ATP6V1B2 PRX CLCNKB PROP1 HCN1 GALC SHANK3 NDUFA1 DCAF8 SCYL1 IGHMBP2 PDHB TUBA8 DUOX2 SYNE1 TRAPPC11 SOX10 VAPB SBF2 MT-TW ERCC3 HESX1 KARS1 HSPB8 ERCC6 HSPB3 SETX CACNA1S PEX6 APTX ARV1 ELP1 KIF1A POMT1 FGF13 SZT2 PEX10 PTF1A NOTCH2NLC DHH FIG4 COG7 AP3B2 NDRG1 AMT KCNB1 MTPAP SNIP1 DNM2 RETREG1 DKC1 BSND MT-ATP6 SNAP25 PEX12 FDX2 MYH7 HSPB1 PHYH IBA57 GABRA5 PLP1 KY FKTN AGRN TG FLRT1 PEX7 TRIM32 WNK1 CACNA1B ACO2 NEFH IQSEC2 ABHD12 HMGCL DHDDS COA7 ST3GAL5 MT-TL1 SCN8A GJB1 TBC1D23 COASY VPS33A ATXN1 YWHAG SNRPN VAMP1 DUOXA2 SYNGAP1 FGF12 OTOG VWA1 ATN1 MT-ND6 STAC3 ATP7A PTRH2 NUS1 PODXL MT-TV DALRD3 DGUOK ACAT1 RMND1 ATL3 CLCNKA HP_CHOREOATHETOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOREOATHETOSIS PANK2 SLC2A1 SEPSECS HSD17B10 SCN1A PRRT2 DMXL2 IREB2 NDUFA9 TRIM8 SLC25A42 POU3F3 XPR1 NADK2 ADAR SUOX MRPS34 SCN2A PTS FBXL4 COX20 AP1S2 GNAS GJC2 PIGQ CLPB NEUROD2 SYT1 SH2B1 SPR PNKP ATP1A2 CACNA1B HPRT1 DLAT SETX PLP1 SCN1B FTL HSPD1 MMUT NUP62 QDPR MECP2 DCAF17 KCNA1 ATG7 PIGP SCN8A NKX2-1 GUF1 SPTBN4 NDUFAF5 GNAO1 ATP1A3 ST3GAL5 SLC16A2 TUBB4A CDKL5 PDE2A SLC30A9 CASK ARX NDUFA1 SUCLG1 PNKD FRRS1L MICOS13 ERCC2 PNPT1 ERCC6 ATN1 SIK1 IRF2BPL PIK3R5 SLC1A3 CACNA1A APTX TSEN15 PDHA1 GCH1 TSEN2 NDUFA13 MT-ATP6 ELP2 XPA POLG TSEN54 FOXG1 VPS13A EIF2AK2 OPA3 TSEN34 GTPBP2 DDC GCDH STXBP1 ATM SLC25A22 PIGN HP_MENTAL_DETERIORATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MENTAL_DETERIORATION PSEN1 GBA PRDM8 GBE1 TOMM40 CNTNAP2 GALK1 CACNA1A RAB39B ATP7B L1CAM GRN GRIN2A MT-ND6 TTR MT-CO2 TMEM106B GALC MAPT MT-TV HEXA SQSTM1 C9orf72 SYNJ1 SPG11 DNMT1 PRNP FAR1 MBTPS2 ERCC8 CDK19 HMBS SLC13A5 CERS1 CTNS VCP MT-TS2 SGPL1 PSAP ALDH18A1 APOE SUMF1 ATXN7 TREX1 SCN1A RBM28 DCAF17 CNKSR2 CLTC APP GABRB2 EP300 GIGYF2 PDGFRB NTRK2 PINK1 HNRNPA2B1 CLN5 GABRA2 TRAK1 ABCA7 TBP RNF216 ATP1A2 TREM2 SLC1A2 SNCA NPC1 ADA2 FMR1 AP5Z1 VPS13C CUBN ZFYVE26 MT-TW GNAS CHMP2B GLUD2 MPO IRF6 GLB1 FA2H ATXN2 SCARB2 DNM1 GCH1 NPC2 XPA TYMP ATP6V1A MT-TC MECP2 VPS13A ACTL6B TBK1 ROGDI CHD2 WFS1 ITM2B PLA2G6 LMNB1 UBA5 CSTB NOTCH2NLC RRM2B HNF4A MTHFR SYN2 XPR1 PPP2R2B GBA2 UBTF BSCL2 FBXO7 CYP27A1 DMPK ATXN8OS SDHAF1 MT-TF TMEM240 TTPA CFAP43 CSF1R CYLD PANK2 HEPACAM HLA-DQB1 PRKAR1B TRPM7 ATXN3 TIA1 FTL SERPINI1 MT-TK CYFIP2 CHI3L1 JAM2 DNM1L PARS2 WDR45 AARS1 SCN3A EPM2A ATXN10 CST3 OPA1 CISD2 NHLRC1 MT-TS1 LRRK2 CREBBP UCHL1 EEF1A2 PPT1 HNRNPA1 NRAS GCDH ATP1A3 TLR3 MICOS13 MATR3 STXBP1 LYST TIMMDC1 SLC7A6OS WWOX CLN6 PLEKHG4 DNAJC5 PSEN2 SDHB SLC2A3 VPS35 ATP6V1E1 SLC1A3 DRD3 PNPLA6 RTN4R CLN8 GRIN2D PMPCA ATP13A2 PPP3CA MT-TQ SDHA SPAST STARD7 PRKAR1A PRDX1 COX6B1 SPG21 ATN1 SLC20A2 CTC1 TUBB4A SDHD CUX2 FUS JPH3 CCNF HTT HIBCH NOS3 ASAH1 MT-ATP6 CHCHD10 TYROBP MT-TE KMT2A UBAP1 ADH1C HEXB HGSNAT IDS PTS EIF4G1 KCNA2 COMT GABRG2 TARDBP PRKCG QDPR SNORD118 PODXL NAGLU POLR3K SNCB MYORG NDUFA6 GM2A NECAP1 CTSF HTRA1 MAPK10 MT-TH NOTCH3 AUH CELF2 DAOA KCTD7 HCN1 KCNC1 C19orf12 MT-ND5 PAH MT-CO1 PRICKLE1 POLG ERCC2 COL18A1 ERCC6 HTRA2 NDUFAF3 DNAJC13 APTX ARV1 TUBA4A FGF13 GALT PARK7 COL4A1 MFSD8 TK2 UBQLN2 MT-ND4 AARS2 PDGFB SLC44A1 ABCD1 AP3B2 MT-TL1 ARSA HTR2A KCNB1 SNCAIP RAB27A MMACHC TIMM8A DGUOK PDE10A ACTB DCTN1 PDE11A DARS2 CLN3 HFE NBN SORL1 GABRA5 PLP1 APOL4 PRKN CACNA1B AASS SCO2 MT-ND1 FRRS1L TWNK STUB1 CP DHDDS GABRB3 MT-CO3 NR4A2 SCN8A TINF2 APOL2 COASY LRPPRC HSD17B10 DNAJC6 YWHAG ERCC4 SYNGAP1 NDUFS2 FGF12 RNASEH1 MT-CYB CTSD DLAT IDUA GDAP2 NUS1 NDUFB8 SURF1 DALRD3 NDP SZT2 ATP6V0A2 MCOLN1 KARS1 PLAU MFN2 HP_HEMIPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIPARESIS CFHR1 SLC2A1 GBE1 MT-TS1 CFH TUBB2B UBAC2 COL3A1 MT-TL1 RBPJ EOGT IL23R ATP1A3 MT-ND6 TTR MT-CO2 MT-TV NF2 ENG MT-TF SMARCB1 MEFV CCR1 ANGPTL6 DCC KLRC4 MTHFR C4A ADA2 RHOBTB2 AKT1 HLA-DQB1 FAS BAP1 CYP26C1 MT-TS2 KRAS TPP2 HLA-B MT-TK TBC1D24 SMARCAL1 PRNP DNM1L PIK3CA SMARCE1 MT-ND1 TREX1 AKT3 MT-ND5 CFHR3 OPA1 SCN1A TLR4 MT-TH WDR62 SMO GUCY1A1 CACNA1A HMGCL PDGFB ARHGAP31 SLC1A3 TERT TLR3 MT-CO3 IL10 IL12A DLL4 MT-CO1 PNPLA8 MT-TW STAT4 COL4A1 MTOR ABCD1 IL12A-AS1 TSC2 THSD1 MT-CYB MT-TQ SPOP TRAF7 NOTCH1 TGFBR3 DOCK6 SUFU ERAP1 GNAQ MT-TC TSC1 ATP1A2 PRRT2 SP110 TBK1 MT-ND4 FGFR1 HP_MOTOR_DELAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTOR_DELAY SARDH COL1A1 CCDC32 SATB1 TENT5A MECR SELENON SUFU PDE10A HERC2 SLC18A3 TPM3 PUS7 AGK MMP13 TRIP11 MT-ND6 VPS51 NSUN2 EGR2 NEFL TRMT10A GRIK2 AIMP1 TNRC6B LMNA WDFY3 TK2 WASHC4 SH3TC2 MPZ PAX7 AMPD2 PPP2R5D MYO9A NBEA FXR1 PRPS1 MYRF UBE4A NKX6-2 MSTO1 MT-TS2 ZEB2 NEXMIF CHRNE CDK13 ASPM ZSWIM6 RSRC1 COG4 ITPR1 LMOD3 LIAS ABCC8 PLXND1 CSGALNACT1 CHRNA1 KCNMA1 TUBB3 SPG11 DPM3 DOK7 ATL1 DPAGT1 TNPO3 CHST14 SNRPN NGLY1 HACD1 PHKG2 MYO7A HUWE1 NOTCH3 MAP3K20 PLAG1 NPHP1 CYP27B1 NDN KBTBD13 ARCN1 RSPRY1 NDUFA8 STXBP1 VPS41 FZD4 PAK3 ALDH5A1 GMPPB POMGNT1 HOXA1 MED12 UQCRFS1 EHMT1 MAPK8IP3 NDUFA12 EXT2 MED13 COL1A2 KIF14 CREBBP CYP3A4 PUM1 TSEN2 HNRNPK PMP22 B3GALNT2 MT-TW UGDH AEBP1 SELENOI CLCNKA COG5 FKBP14 SLC25A1 SMARCA2 UBE2A GDAP1 PTEN PTCH1 FTSJ1 NAA10 KLHL41 JARID2 NEUROD2 SPEG COL13A1 NEB NTNG2 PLP1 B3GAT3 UBE3A RAB3GAP2 MAPRE2 ZMIZ1 COG1 CDC40 PGAP1 HSD17B4 DNM2 ZNF711 IL1RN FKRP CHAT ANTXR1 CHRND SHOC2 GBA GCK TANGO2 LMX1B SUCLG1 HPRT1 HMGA2 KIDINS220 INPP5K CTBP1 PACS2 NONO NEK1 SVBP TMEM94 TANC2 DLK1 MED27 PIGC TMEM38B H19 PDX1 HNMT ARL13B RYR1 ATG7 FBN1 SNORD116-1 SLC39A13 GRM1 SLC18A2 IGF1 FLNA COL6A1 SPTBN4 SLC12A6 SETD5 ATP6V1A CLDN11 FIG4 MYH7 GJC2 IGF1R TIMM50 SLC12A2 LARGE1 KIF7 MYPN POLR3GL TCF4 SCN2A LAMA2 SMPD1 PWRN1 MEG3 KDM5B DPYSL5 PIGO SDHB RALA CASK GFPT1 LRP5 MECP2 PHKA2 MKRN3 DOCK3 MT-TF CFL2 PWAR1 NARS1 EXTL3 QRICH1 ATP6V1E1 ARHGEF2 GLE1 KY AMN SDHA RPS6KA3 TRMU ADCY5 NCDN KLHL15 KLHL40 TRIM2 IGF2 RTL1 TSHR LAMA1 USH1C GHR MN1 GAA CRADD TRPV4 SUCLA2 KMT2C NMNAT1 SIM1 ZNF408 REPS1 HIBCH AHDC1 FAR1 FLVCR1 KAT6B COA8 GABBR2 KMT2A SIGMAR1 ADGRG1 CAMK2A NFIX SCN11A TRIO ADA2 ITCH KDM1A PPP2CA APC2 MYL2 ERLIN2 VAMP1 LSS FITM2 CHST3 CPLX1 PCYT2 KMT2B HPDL FKTN ZC3H14 RRAS2 TRIP4 POMT2 NAA15 MED23 ARID2 FASTKD2 EFEMP2 MYF6 TH NDRG1 HARS1 CDC6 ARID1B MADD AUH WDR73 PRX PSMD12 FARSB CLIP1 CHKB HECW2 LMNB2 INPP5E ACBD5 FOXG1 HS2ST1 ACP5 METTL23 TRAPPC9 CWC27 CUL3 VPS4A UBE3B PRSS12 EPG5 OPA1 AHI1 PNP MT-CO1 CDKL5 ATP2B3 P4HTM TPM2 SYNE1 PLOD1 GPSM2 SLC37A4 KCNC3 IQSEC1 SH3PXD2B PLEC NT5C2 EN1 COL6A3 SRD5A3 MUSK AGTPBP1 RLIM TAFAZZIN KDM4B MTMR14 ZNF592 ACTL6A PYGL LRP4 AP3B1 TNNT1 TTN NKX2-1 PCDH15 TAF1 HS6ST2 FOXP1 TNFRSF11B PNKP TET3 TKFC ORC6 RBM8A ITGA7 FAM126A TGFB3 GTF2E2 RAB11B MAN1B1 VPS13D TBC1D24 COL12A1 MT-TL1 GARS1 KMT2E SMARCAL1 MAOA ALDH18A1 EDC3 ZBTB24 BSND ATG5 COX10 SNAP25 OPHN1 MYH3 DARS2 ACTA1 NTNG1 GABRA5 WAC COL3A1 SYT1 FDX2 MT-CO2 MT-TN ABCA2 CTDP1 WDR26 DLAT VDR TRIP12 MFN2 MRAS NEPRO EP300 GRIA4 SAMD9 LTBP4 MTPAP PRKRA KCNJ11 COL5A1 PREPL ACADSB MYO18B STAT3 CHRNB1 SOX5 SMC1A ANKRD17 PNPLA2 SETBP1 MICU1 SLC1A3 MT-CO3 SLC9A1 CTNNB1 KLC2 DDX6 NALCN VPS33A KDELR2 MBOAT7 FBN2 BIN1 MLC1 KCNQ2 GALNT2 ALS2 NDUFA4 RALGAPA1 SP7 ASPA IL37 ALDOA STAC3 FMR1 PPIL1 DYNC1H1 POMT1 BRAT1 POR PCBD1 AP3B2 TSEN54 KARS1 NEMF FUS CUL4B SEPSECS COQ2 LMNB1 MYL1 CNTNAP2 B3GALT6 GALK1 IARS2 SYNGAP1 PDK3 MEF2C GALC PTS EXOSC2 WWOX TRPV6 SPOP TNFRSF11A BPTF CLPB OTUD6B CUBN SARS1 SH2B1 SGMS2 FGFR3 RUBCN ATP6AP2 SPTBN1 GRM7 DHX30 MFF MAN2B1 DARS1 UFSP2 NDST1 SCN4A CDKN1C KIAA0753 WASF1 SCN1A PTH1R DAG1 MT-TE AHCY ACTL6B MEGF10 FBXO11 CRBN CARS1 PTPN23 TUBB UBR7 KCNK4 WDR4 DMXL2 CLCNKB ALMS1 UNC80 SLC6A8 MED12L ATP6V0A2 CLP1 CRAT MORC2 PPP2R1A SYT2 BCORL1 CDH2 NDP COL5A2 HELLS MPDZ AGO2 SETD1A FRRS1L IFT52 CLCN6 DYNC1I2 CYP2R1 PURA PET117 SLC9A7 CLCN7 RPS23 SLC25A42 YIF1B GMNN LRRC32 HADHA TLK2 DYRK1A TMTC3 SET FGD4 SDHAF1 NOVA2 LINS1 ACTN2 STAG2 HEPACAM COL2A1 VPS13B PBX1 HADH FBLN5 TSPOAP1 CSNK2B RAPSN RUSC2 CANT1 CNOT3 FRMPD4 MAGEL2 CPE NUS1 TCF20 COQ7 MYOD1 PTCH2 GJB1 KAT8 MICOS13 RPL10 SCO2 TUBB4A CYP2U1 SLC45A1 B4GALT7 SIAH1 RNU12 GRIN1 MRPS25 KATNB1 ZC4H2 MED13L PMPCA TSEN15 MT-TQ NFASC POMK ATP10A COPB1 TRMT1 REV3L TRAPPC4 AGRN CC2D1A CDK8 SLC5A7 FBXW11 TSEN34 KCNA1 CNKSR2 CNOT1 SDHD RORA MYT1L LONP1 MT-TS1 MTMR2 POMGNT2 C12orf4 SPEN DYM PIGG LAMB1 HGSNAT POLR2A BCOR FBXL3 PTPRQ DMD MED25 TRNT1 BICD2 GALE DNAJC19 ADARB1 SNX14 GLS RAC1 MBD5 POLR3K SPART HADHB TECR CNOT2 SLC6A3 SHMT2 MCM3AP BRPF1 CRPPA PIEZO2 MT-TH XYLT1 DCX LMAN2L ZNF148 LARS2 TMEM63A GRIA3 SHANK3 MYMK TMCO1 NDUFA1 ST3GAL3 HK1 DCPS DSE YY1 MSL3 VMA21 PHEX TTC5 FBXO31 FGF3 TBR1 CIB2 SMARCD1 ALG2 MT-ND4 EZR PALS1 RAI1 SEMA6B GNPTAB AK9 ALG14 ASAH1 PAK1 PCDH19 NRAS DLG3 SPR DHPS FMN2 BMP1 PRMT7 NCAPG2 COL6A2 NEU1 SON SCYL1 ASXL3 ATXN7 ALKBH8 FLRT1 PAFAH1B1 MT-ND1 ATP1A3 TNIK MRPS14 MT-ND5 KPTN KCNA4 TRRAP BCL11B ODC1 FDXR CHD3 MESD DPF2 UGP2 SLC16A2 ADAMTS2 EBF3 KDM3B INS TUBA1A PTRH2 YARS1 ALG12 SLC1A4 SURF1 BMPR1A SPARC TSPAN12 LARS1 VPS35L THG1L NPAP1 HTT FBLN1 RAB3GAP1 DPYD GFM1 PSMG2 TUBB2B TUSC3 ACAT1 GEMIN5 SNORD115-1 SPG21 HP_POLYNEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYNEUROPATHY NF1 ABCD1 ABHD12 SLC12A6 HLA-DQB1 AIFM1 PDYN PDK3 NGLY1 PEX7 RPIA ATP7B NAGS TTR DHH PEX11B OPA1 CYP7B1 NF2 MT-ND5 FUCA1 GSN DMXL2 UQCRC1 PEX12 DARS2 EDNRB MT-CO3 ALAD GRM1 SLC25A19 MT-ATP6 CD59 ARL6IP1 MT-ND1 SETX SEPTIN9 SPTBN1 MYD88 PRPS1 SNAP29 PMM2 MT-ND4L TBC1D24 HLA-DQA1 PSMC3 GCLC SYNE1 MYOT MT-ND6 PSAP MTRFR MT-CYB PIK3R5 ERCC6 ERCC8 MT-ND4 DGUOK SH3TC2 MT-ND2 FAM126A LDB3 COQ7 HP_CEREBELLAR_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBELLAR_ATROPHY MME COQ2 MRE11 NDUFS1 SYT14 ZNHIT3 CIZ1 PDYN DNM1L TBC1D2B GRN TECPR2 DPM1 RNASEH2A STT3A AP4E1 ATXN3 PNPLA6 SLC9A6 EXOSC2 GRID2 DNMT1 PRNP CLPB TRAPPC4 SPTAN1 AP4S1 SLC39A14 FCSK RUBCN ATP6AP2 KAT5 TBCE TXN2 FGF14 DHX30 ITPR1 AIMP2 NKX6-2 MFF ALG1 MAN2B1 QARS1 ATXN10 MRM2 IFRD1 FGF12 VLDLR SUMF1 MDH2 COG8 POLG2 KCNMA1 CARS2 KCNA1 COQ5 PIGP KATNB1 SHANK3 MTHFS BCS1L TDP1 ANO10 CLN5 CACNA1A SLC25A46 NGLY1 TBP RNF216 CARS1 CDKL5 SLC35A2 CASK TUBB TOP3A WDR4 FMR1 NDUFA8 STXBP1 VPS41 PIGN ALDH5A1 SYNE1 AP4M1 ERCC2 AFG3L2 SRD5A3 SIK1 BEAN1 OSGEP FAT2 FA2H ELOVL5 ATXN2 ELOVL4 EPRS1 CRAT FAR1 PUM1 RARS2 KIF1A MORC2 RRM2B ZIC1 NARS2 COG5 RFC1 DAB1 OPA3 GTF2H5 ATXN1 CCDC88C DMXL2 PEX10 TUBB2B CLCN7 TRIM8 YIF1B TK2 PPP2R2B GBA2 PLA2G6 COG1 UBTF MPLKIP CNTNAP1 FBXL4 COX20 CYP27A1 HSD17B4 SAMD9L GPAA1 SIL1 TMEM240 WDR81 FKRP GRIA2 SACS CHP1 SLC39A8 KIF1C SERAC1 LIPT1 LMX1B PEX2 HEPACAM PNKP ZNF335 SLC33A1 CTBP1 COQ9 TBCD WDR45 SCARB2 TARS1 TWNK HTT OPA1 TPP1 SPG7 GRM1 PIGK CYFIP2 GJB1 AP4B1 KCND3 TRPC3 PIGU MICOS13 NALCN MED27 TUBB4A LYST EXOSC3 POLR1C GTF2E2 LAMA2 ADPRS XRCC4 FRRS1L PEX6 KCNC3 RNU12 PEX16 IRF2BPL UBA5 SPTBN2 PIK3R5 TBC1D20 CLN8 BCAP31 PMPCA ATP13A2 PRKCG NFASC UCHL1 ATP6V1A TRMT1 ARMC9 NOP56 VPS11 TMX2 PRRT2 NMNAT1 NDUFS4 GAD1 RORA TRAPPC11 ZMIZ1 REPS1 WDR73 NDUFA9 RNASEH1 EXOSC9 PCNA MVK SC5D WWOX FARS2 GRM7 PIGG PIGQ EMC1 RTTN POMT1 ADSL NUP214 SCN1B ARG1 TSEN2 XRCC1 MARS2 L2HGDH ATAD3A POLR3K KCNJ10 SPART WARS2 CTSF RNF113A CRPPA CYB5R3 DNAJC3 CKAP2L RELN SH3TC2 TTC19 SCN1A CDC42 GNAO1 CACNA1G ACY1 RNF13 KCTD7 TTBK2 ERCC3 KCNC1 VPS4A TRAPPC6B C19orf12 ACTL6B NDUFA1 SCYL1 NADK2 POLG PIGS PCLO POLR3A COL18A1 ATXN8OS ERCC6 COL4A1 MAG HK1 SETX PLAA AGTPBP1 COG6 APTX TAF1 LNPK STT3B CYB5A SLC1A3 ALG9 COQ8A BCORL1 SLC25A4 ATP1A2 MFSD8 TGM6 SQSTM1 GTPBP2 POGZ SLC25A22 AARS2 COG7 SLC5A6 SLC44A1 STUB1 ZPR1 SEMA6B TBC1D24 BTD NODAL PRUNE1 PITRM1 EEF2 SCN2A MYH3 PIGT PMPCB DARS2 NEUROD2 CNP FOXRED1 VARS1 FKTN ALG3 UFM1 IBA57 ATP2B3 ATXN7 DEGS1 PLD3 ATP1A3 POLR3B ACO2 SDHA BCL11A MGME1 ABHD12 FDXR VWA3B COA7 CACNA2D2 SLC9A1 PACS1 ATP8A2 ARX EBF3 CPLX1 HERC1 VPS53 SOD1 PLK4 NDE1 BRAT1 CTSD GDAP2 PTRH2 AP3B2 COX4I1 DLG4 MCOLN1 SEPSECS CCDC88A SNX14 GEMIN5 LAGE3 CUL4B HP_ABNORMAL_CORPUS_CALLOSUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CORPUS_CALLOSUM_MORPHOLOGY RNU4ATAC CCDC32 PIGA BUB1B ALX3 CCDC47 PDYN CACNA1A PDHB EIF2S3 NDE1 MT-ND6 VPS51 NSUN2 GRIK2 SLC9A6 RAB23 KANSL1 TAF13 AIMP1 SRPX2 GRIN2A TCTN3 RERE DLL1 TDGF1 WDFY3 MBTPS2 WASHC4 SPTAN1 GLI2 CTNNA2 PPP2R5D PHC1 CDK19 CENPJ DHCR24 CEP41 RHOBTB2 KAT5 METTL5 SLC13A5 IER3IP1 BRAF KDM5B PYCR2 DAG1 CENPF ANKRD11 UBE4A AIMP2 SPEN MT-TS2 QARS1 PUS3 KRAS MAP1B SIX3 ZEB2 CDK13 SIN3A ASPM IFIH1 SAMHD1 MRPS16 MDH2 TECPR2 POU1F1 CNKSR2 EMX2 CARS2 FOXH1 INPP5E KCNA1 FGF8 KCNMA1 KATNB1 TUBB3 SPG11 GABRB2 TRPM3 ATL1 DYNC2H1 NTRK2 PAX6 TCTN1 RAC3 TRAK1 PROKR2 HUWE1 PIGN FIG4 ZIC2 CTBP1 DIS3L2 MKS1 GPT2 CDON USP7 PRKCZ ACTB CDKL5 TREM2 OTUD6B SLC1A2 PIGP FAT4 CCDC174 TRAPPC14 SHH RSPRY1 PDHX KIAA0753 NDUFA8 VPS41 NANS VAC14 ZNF699 HNRNPU ZSWIM6 GPC3 DOCK7 MED12 AHCY EHMT1 MAPK8IP3 ERCC2 FKRP CTNNB1 SIK1 ZFR COG4 ZDHHC9 OSGEP TMEM237 CUX1 FA2H B9D1 FDFT1 TGIF1 KIF15 SLC25A10 PITX1 TSEN2 HNRNPK DPH1 B3GALNT2 RNASEH2C MT-TW CLP1 KCNT2 SETBP1 SOX3 YWHAE ZIC1 ATP6V1A EIF2AK2 CD96 PRRX1 RPGRIP1L PTCH1 DISP1 LMNB1 B4GAT1 UBA5 ARID1A JARID2 NEUROD2 DMXL2 DNM1 ARID2 SNAP29 PPP1R21 CYP11A1 DIAPH1 TUBB2B SCYL2 ACER3 BUB1 AHI1 MBD5 PIGB DONSON MAPRE2 ZMIZ1 ALG2 COG2 DCC DCHS1 C12orf57 MACF1 FGFR2 CDC40 PGAP1 MPLKIP FBXL4 WDR35 CDK10 WDR81 SIN3B EPB41L1 KIAA1109 NSD1 DEAF1 SHOC2 GBA POMK ARID1B TBCE NODAL COL4A1 RAB18 GLUL KIFBP SACS KIDINS220 NONO B9D2 CRPPA SVBP CYFIP2 COPB2 TANC2 PPP2R1A FGFR3 FGFR1 CNTNAP1 DNM1L MED27 TAOK1 GMPPB TARS1 AARS1 HNMT NKX6-2 GOT2 SCN3A SYNGAP1 ATG7 OPA1 DHX16 CDK5RAP2 STAG2 DACT1 ATN1 MLH1 EEF1A2 GNAO1 PTDSS1 CC2D2A LHX4 SLC12A6 TMEM216 ODC1 IGF1R HIVEP2 SLC12A2 LMBR1 STXBP1 HSPG2 TBCD LARGE1 KIF7 POLR1C POLR3GL TCF4 WWOX PSAP SMG9 KAT6B FKTN NAA10 DPYSL5 ERMARD POMGNT1 PEX16 DOCK3 MT-TF NARS1 GJC2 EXTL3 GLI3 ADAT3 CPT2 SUFU AHDC1 GRIN2D ATP13A2 PPP3CA PHGDH AP4M1 TOE1 NCDN SOX2 GBA2 POMT2 VPS11 PDE6D RXYLT1 EXOC8 NFIA SATB1 CRADD SMARCB1 PDPN KMT2C NMNAT1 ZBTB18 CEP290 REPS1 GPC4 GAS1 BUB3 HIBCH POLR3A ARMC9 EARS2 SYNJ1 PEX1 HYLS1 SLC25A24 KMT2A RAB3GAP2 GRM7 PIGQ CLTC EMC1 RTTN KDM1A PPP2CA APC2 IBA57 ERLIN2 LSS ALX1 NELFA TBCK IFT80 RAC1 MID1 BMP4 HPDL L2HGDH ZC3H14 GCSH CEP104 MED23 RNF113A CEP120 ACY1 CYP2U1 TRAPPC9 WDR62 CELF2 SLC6A9 RELN CLIP1 PPP1R12A FOXG1 HS2ST1 KCTD7 PPP1R15B HCN1 METTL23 CEP152 VPS4A UBE3B ZBTB20 PUS7 PRSS12 TRAPPC6B EPG5 SON SASS6 ACTL6B MT-CO1 NADK2 TUBA8 WDR45B NFIX ERCC3 NDUFB11 HESX1 GPSM2 SUZ12 MAG SH3PXD2B NT5C2 CDC42 LUZP1 SETD1B AGTPBP1 RLIM KDM4B SLC25A19 ACTL6A ARV1 TUBB2A TAF1 B3GLCT FGF13 KCNA2 SZT2 PNKP RSRC1 ALG3 WAC ALDH7A1 TGFB1 DDX6 SLC25A22 PIGG COG7 TMEM107 MAN1B1 TMEM251 MT-TL1 PRUNE1 KCNB1 KMT2E HCCS COX7B EBP ALDH18A1 SCN2A CSPP1 POGZ EDC3 NID1 ALG8 RNASEH2A LETM1 DARS2 MFSD2A SMARCE1 GABRA5 COL3A1 MT-CO2 VARS1 DDHD2 CEP135 DNAL4 WDR26 CIC TRIP12 PAFAH1B1 MOCS2 GRIA4 FANCD2 TMEM260 SLC35A2 CACNG2 CACNA1B CPLANE1 SMARCA4 MTRFR EXOC2 ACO2 SMC1A KATNIP ASXL1 OFD1 IQSEC2 SIX6 MTOR TMEM67 NDUFAF5 DHDDS VWA3B MT-CO3 POLR3B OTX2 KIAA0586 SCN8A ARX HACE1 KNL1 TBC1D23 FRMD4A NALCN MED13 DDX59 MAF YWHAG MBOAT7 STAMBP FGF12 POMT1 KCNQ2 RALGAPA1 VAX1 STUB1 PPIL1 DYRK1A BRAT1 ATRX MED12L ERCC6 CIT TMEM231 PIEZO2 DOCK8 BRF1 NUS1 PRKDC AP3B2 PCNT TSEN54 MCOLN1 NPHP1 PPP2R3C RMND1 DYNC1H1 CCDC88A NEMF GFER CUL4B SEPSECS ANKLE2 RAD51 EXOSC1 NF1 TAF2 EML1 ZNHIT3 ARNT2 ITGB6 POU3F3 PTPN23 PDHA1 RAB3GAP1 DDB1 MMP23B RSPO2 FAR1 C2CD3 MED25 AP4S1 SARS1 GPX4 ATP6AP2 NDUFA2 DARS1 ZFYVE26 UFSP2 NDST1 CDH15 EFNB1 ARL13B NUP188 DDX3X AIFM1 CSNK2B ZMYND11 MCPH1 SHANK3 TRAPPC12 EP300 NEDD4L PYCR1 ZNF423 CBY1 ARL3 NKX2-1 GABRA2 OTUD5 CACNA1E CRBN BPTF CARS1 IGBP1 KIF2A CASK TUBB UBR7 KCNK4 SSR4 SMO LHX3 AP5Z1 SPATA5 WDR4 UNC80 ADNP AHSG POMGNT2 FGFRL1 SLC6A8 CPLX1 PLPBP RAI1 EPRS1 FOXA2 SMARCC2 PUF60 UBTF SALL1 BCORL1 FH CDH2 NRROS PSMD12 NARS2 DISC1 ADAR KIF14 GTF2H5 AGO2 HIC1 TXNDC15 FRRS1L IFT52 RARS1 DYNC1I2 GABRB1 SPECC1L L1CAM TMEM70 GDF1 FANCI CWF19L1 TRIM8 TMEM138 YIF1B PSAT1 LRRC32 MEF2C PRPS1 ACTG1 WASF1 TMTC3 TCTN2 NOVA2 BRSK2 EOMES TREX1 ASNS PIGH LINS1 CSF1R CAMK2B OCA2 VPS13B PROP1 SEC31A DPAGT1 RNF13 UBE3A HERC1 DHCR7 SETD2 UBE4B PARS2 PORCN MAP2K2 KIRREL3 RUSC2 STIL KIF5C ASH1L CNOT3 RAB11A FRMPD4 PIBF1 CEP63 TCF20 ARFGEF2 CREBBP DCX MOGS MDH1 KAT8 AP4B1 CLN5 LRP2 PIGU GALC C2orf69 KIF1A GRIN2B PLAA GTF2E2 GPKOW SLC45A1 RBM10 GFM2 GRIN1 MTHFR MRPS25 ZNF462 USP9X ALX4 IRF2BPL TBC1D20 BCAP31 TSEN15 MT-TQ NCAPD3 SPG21 TRMT1 RPS6KA3 TRAPPC4 TMX2 CC2D1A CDK8 FBXW11 TSEN34 SOX11 CILK1 CAMK2A MADD NSD2 GAD1 RORA MYT1L LONP1 WDR73 ARHGAP31 MT-TS1 BCOR FLVCR2 NTN1 C12orf4 FANCB NTNG1 FLII LAMB1 TRMT10A KCNQ5 NBEA POLR2A DYNC2I1 SCN1B ATAD3A AP4E1 ADARB1 GABRG2 POLR3K DYNC2I2 VANGL2 POLG2 CDK5 DPF2 NECAP1 TECR WNT3 SHMT2 TMCO1 GLDC RECQL4 LYRM7 MT-TH CDK6 IQSEC1 LMAN2L ZNF148 NHLRC2 CHMP1A GRIA3 ABAT TTI2 MRPS22 AMER1 VAMP2 ST3GAL3 PCLO RNASEH2B WT1 ALDH6A1 TOGARAM1 HRAS HK1 DCPS SMARCA2 YY1 COG6 FAM149B1 NRAS MOCS1 LNPK PAH TTC5 FBXO31 SMARCD1 GLYCTK FLCN PRMT7 GTPBP2 MT-ND4 EZR SLC5A6 PALS1 RB1 SOX4 AMPD2 AMT TYROBP ARSI UPF3B SNIP1 FUZ EXOSC8 PCGF2 SLC1A4 CHAMP1 CNP RPGRIP1 PMS2 FMN2 MAN2B1 CNOT1 HSPA9 KCNAB2 MINPP1 TMEM106B ASXL3 ALKBH8 TUBGCP2 MT-ND1 NEXMIF TNIK TARS2 MT-ND5 HTRA2 SKI TRRAP HSD17B4 FDXR NR2F1 PIGC CLCN4 UGP2 GLRX5 COASY ATP8A2 LIG4 KCNT1 KDM3B CENPE CEP57 PIK3C2A CASZ1 IDS PRDM16 TUBA1A NTNG2 EXOC7 PNPT1 VPS53 YARS1 SET FLI1 ALG12 BICD2 AKT3 THOC6 OSTM1 HTT TRIP13 DALRD3 MT-CYB DPYD TNRC6B GFM1 TUSC3 PLP1 GABRD PIK3R2 HP_AGENESIS_OF_CORPUS_CALLOSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGENESIS_OF_CORPUS_CALLOSUM ANKLE2 RAD51 EML1 BUB1B PDYN ARNT2 PDHB ALX3 PTCH1 NDE1 MT-ND6 PDHA1 KIF7 NDUFB11 DDX59 PGAP1 TAF13 HESX1 MMP23B RSPO2 DLL1 TDGF1 FGF8 MBTPS2 GLI2 GPX4 PHC1 CENPJ DHCR24 CEP41 KAT5 METTL5 PYCR2 DAG1 CENPF SPEN MT-TS2 KRAS SIX3 ZEB2 CDK13 ASPM COX7B MRPS16 POU1F1 TMEM237 EMX2 FOXH1 MCPH1 GPC4 SHANK3 TUBB3 TRAPPC12 DYNC2H1 PYCR1 NKX2-1 RAC3 OTUD5 PDHX PROKR2 PIGN FIG4 ZIC2 CTBP1 DIS3L2 MKS1 FGFR2 CDON IGBP1 RERE PRKCZ ACTB TRAPPC14 NFIX SMO LHX3 KIAA0753 VAC14 ZNF699 HNRNPU ZSWIM6 GPC3 WDR4 MED12 ERCC2 FKRP POMGNT2 FGFRL1 CPLX1 MED12L FOXA2 ASXL1 HCCS NODAL TGIF1 SMARCC2 KIF15 PUF60 HNRNPK DPH1 SALL1 FH CDH2 MT-TW SOX3 ZIC1 NARS2 DISC1 PRRX1 KIF14 GTF2H5 WDR62 DISP1 B4GAT1 DYNC1I2 FGFR1 ARID2 SPECC1L SOX2 L1CAM CYP11A1 SHH GDF1 FANCI CWF19L1 TUBB2B SCYL2 INPP5E LRRC32 DCC DCHS1 CDC40 ACTG1 MPLKIP WDR35 NSD1 EFNB1 POMK EOMES ARID1B CSF1R COL4A1 KIDINS220 PROP1 SEC31A CRPPA PPP2R1A UBE4B PORCN TARS1 DHX16 KANSL1 CEP63 CDK5RAP2 STAG2 PIEZO2 DACT1 MLH1 PTDSS1 LHX4 SLC12A6 MDH1 POMT1 B3GALNT2 LRP2 HSPG2 CREBBP EHMT1 GTF2E2 KAT6B FKTN DPYSL5 MTHFR MRPS25 CC2D2A ZNF462 KATNB1 POMGNT1 ALX4 MT-TF ADAT3 CPT2 MT-TQ PHGDH GMPPB LETM1 B3GLCT NCAPD3 POMT2 EP300 RXYLT1 NFIA CDK8 PDPN SOX11 SUFU HS2ST1 ZBTB18 NSD2 MT-TS1 FLVCR2 POLR3A AHI1 NTN1 HYLS1 GLI3 OFD1 C2CD3 RTTN POLR2A RAB3GAP1 DYNC2I1 SLC12A2 LARGE1 ALX1 BMP4 NELFA IFT80 HIBCH MID1 DYNC2I2 VANGL2 GCSH GAS1 CDK5 DPF2 ARX WNT3 RNF113A GLDC CEP120 CIT RECQL4 MT-TH RELN CDK6 DCX SMARCB1 ZNF148 PPP1R12A CEP152 ABAT EPG5 FRMD4A SASS6 MT-CO1 AMER1 TUBA8 ERCC3 GPSM2 SUZ12 LUZP1 YY1 KDM4B SLC25A19 LONP1 SMARCD1 FOXG1 MED25 GTPBP2 MT-ND4 PIGG ARID1A C12orf57 STIL SOX4 AMT MT-TL1 SMC1A RAB3GAP2 FUZ COPB2 MFSD2A SMARCE1 PMS2 MT-CO2 CNOT1 CEP135 DNAL4 HSPA9 KCNAB2 FANCD2 TMEM260 SMARCA4 MT-ND1 MT-ND5 SKI SIX6 RPGRIP1L NDUFAF5 MT-CO3 OTX2 KNL1 RNU4ATAC CENPE CASZ1 PRDM16 TUBA1A VAX1 YARS1 FLI1 PPIL1 ATRX ERCC6 OSTM1 SPG11 MT-CYB DPYD NPHP1 PPP2R3C GABRD FAT4 HP_HYPERTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTONIA PRDM8 SLC25A15 SATB1 PIGA MECR PPARGC1A DCTN1 CACNA1A ADGRG1 ERCC8 EIF2S3 DPM1 RNASEH2A SLC6A5 PNPLA6 GRIK2 NDP SLC6A8 DNAJC6 RTEL1 GABRB2 STN1 CTNNA2 AMPD2 SLC39A14 ADAM22 SPG11 PIK3CA UBE4A NKX6-2 ATXN10 KRAS SCN8A SIX3 ZEB2 NEXMIF MT-ND1 TUBG1 KIF5A ZSWIM6 SAMHD1 TBK1 ATXN7 SCN2A MT-ND4 KCNA1 FGF8 BCS1L ATL1 ARF1 NTRK2 MT-ND2 TRAK1 ABCA7 TBP MCCC2 MAPT ACADS GLI2 SLC13A5 CYB5R3 ALDH18A1 SUCLG1 PDHX VPS41 PLP1 NAGA RANBP2 MYO5A PEX7 MAPK8IP3 TACO1 ERCC2 HSPD1 AFG3L2 PQBP1 CTNNB1 ZFR UBQLN2 AP1S2 NCF1 CUX1 ELOVL4 ATRX PCCA PUM1 WASHC5 RARS2 NDUFV2 B3GALNT2 RFT1 RRM2B RNASEH2C UGDH SETBP1 CCT5 TPI1 GBA EIF2AK2 PTCH1 PSEN1 LMNB1 UBA5 NAA10 SLC2A1 MT-TF DMXL2 DNM1 NEFH RERE MBD5 TK2 L2HGDH PLA2G6 POMT1 PGAP1 KDM5C FBXO7 ATXN8OS LDHA FUCA1 CAPN1 TRMT5 PET100 ELN SACS SCN1A CHP1 EYA1 NODAL TANGO2 EIF4H SETX PANK2 TREM2 NDUFA12 HPRT1 HLA-DQB1 NDUFS3 PFN1 SRPX2 KIF1A COQ9 FTL VPS37A CYFIP2 NUP62 TOR1A COPB2 HNRNPA1 WDR48 NDE1 DNM1L TAOK1 WDR45 ARX IDUA GRIN2A BRD4 AARS1 GOT2 SCN3A ARL13B PNPO COX8A HTRA2 OPA1 PSAP NHLRC1 B4GALNT1 TFG GRM1 NECAP1 CLDN3 HNRNPH2 CLDN11 FAR1 PON2 SNCA ODC1 GJC2 ACP2 SHH MED27 UCHL1 LYST SLC30A9 DLL4 TBCD EXOSC3 POLR1C WWOX FKTN NUP133 CLPB DISP1 AIMP1 SDHB CASK ERBB4 ERCC5 PPP3CA ADAT3 ATP6V1E1 NOTCH1 CLN8 KY AP4M1 TOE1 FGF13 NCDN INTS8 GBA2 ATP6V1A TIMM50 SCN4A TMEM270 EXOC8 OPA3 OGDH TGIF1 PNP PTCD3 SMPD4 REPS1 RYR1 ALDH3A2 EARS2 RTN2 COA8 RAB3GAP2 SIGMAR1 PRF1 MME ADAR CLTC CLCN4 GAN APC2 IBA57 GLYCTK ZIC2 MECP2 KMT2B HPDL FGFR1 ZC3H14 ISCA2 GM2A MAG FTO ANK3 MED23 RNF113A METTL27 TH ALS2 WDR62 NALCN SLC6A9 WDR73 TSEN54 KYNU REEP1 TTC19 SLC1A2 PPP1R15B HCN1 ZC4H2 METTL23 NIPA1 PRSS12 ACTL6B PAH SCYL1 TUBGCP4 NADK2 MPDU1 RPS20 NACC1 XPA RAD50 COL4A1 PITX3 NT5C2 POLR3A SETD1B IKBKG ZNF592 SLC25A19 RFC2 FUS ATXN2 LAGE3 ATP13A2 CYB5A KCNA2 DDB2 FOXP1 ARV1 RSRC1 NOTCH2NLC ALG3 BOLA3 NEU1 PDE8B NEFL CACNA1D AARS2 STUB1 MAN1B1 SLC35C1 PRUNE1 KCNB1 CLIP2 SNCAIP MRPS34 EBP EPM2A EDC3 POLG DKC1 DSTYK OPHN1 PHGDH NDUFAF6 FOXRED1 MSH6 DDHD2 UFM1 CIC MOCS2 GRIA4 AMACR COQ2 CACNG2 CACNA1B SCO2 ARSA EXOC2 SMC1A TCTN2 SDHA POMT2 SLC6A19 ERCC6 PYCR2 SIX6 BSCL2 NDUFAF5 DHDDS VWA3B SUZ12 POLR3B ATAD3A TINF2 HACE1 CLCF1 TBC1D23 ALG9 PMS1 MBOAT7 SYNGAP1 SMC3 FGF12 BCKDHA RALGAPA1 SOD1 SOX4 MT-ND6 METTL5 TCF4 PPIL1 PDGFB KCNQ3 BRAT1 MED12L NUS1 NDUFB8 RAB39B AP3B2 TUFM PRNP NARS1 SZT2 AP4S1 DYNC1H1 TBCE NEMF ATXN3 KLC2 MCCC1 SEPSECS SURF1 GTF2I CNTNAP2 PTPN23 L1CAM SLC25A22 TTR AP4E1 GALC PTS MIPEP SPOP SYNJ1 WASHC4 MED25 SARS1 GLRA1 SPTBN1 TGFBR2 RAB18 STXBP1 DARS1 PMS2 MTRFR UFSP2 NDST1 CDH15 ZFYVE27 ERLIN1 MGAT2 SLC16A2 CSNK2B ZMYND11 TRAPPC9 TRAPPC12 GABRA2 ERF ARG1 CACNA1E ATP1A2 SATB2 DDX3X HSPG2 PNPLA8 GLRB SPATA5 ZFYVE26 UNC80 ADNP RNASET2 LIPT1 SLC19A3 CACNA1G PDCD1 HUWE1 GMPPB CLP1 SYNE1 DNAJC30 CARS2 ERLIN2 NPC2 PEX2 C19orf12 NARS2 TP53RK ROGDI FRRS1L RARS1 PEX5 ATXN1 VCP FOXH1 PSAT1 UBTF ERCC1 NUBPL TMTC3 GPAA1 PMPCA TMEM240 GRIA2 DENND5A ASNS ATP7A LINS1 CSF1R CAMK2B PNKP CDON DPAGT1 RNF13 DHCR7 TSPOAP1 KIRREL3 RUSC2 TBL1XR1 RAB11A FRMPD4 GAMT SLC17A5 PPT1 MTRR GJB1 AUH GCDH KCND3 C2orf69 TUBB4A CYP2U1 GRIN2B PLAA GTF2E2 MICOS13 PEX6 PON3 PSEN2 GRIN1 FAN1 KATNB1 GSX2 USP8 PEX16 TBC1D20 ZNF292 PRKCG NFASC NOP56 PSPH DLL1 COG2 CC2D1A CTC1 TSEN34 CAMK2A PRPH THOC2 HTT RBPJ RPIA GTF2IRD1 KIF11 C12orf4 TYROBP DYM UBAP1 MTHFR LAMB1 TRMT10A AP5Z1 RAB3GAP1 BCOR MT-ND3 PEX26 POMGNT1 GLB1 VPS35 BICD2 DNAJC19 GABRG2 MRE11 SPART TPRKB SPTBN2 GAS1 NDUFA2 EIF2B5 SHMT2 CIT CPT1C MTFMT IQSEC1 DCX LMAN2L GUF1 KARS1 STAG2 SLC25A12 FRMD4A ST3GAL3 SOX10 PCLO HK1 DCPS MED13L ARL6IP1 UFC1 EIF2B2 MSL3 LNPK TTC5 GFM2 ADD3 EZR LARGE1 HSD17B10 ABCD1 TAF2 SEMA6B MORC2 PEX19 MED17 MTPAP COASY RAB27A SCN1B EXOSC8 RETREG1 CHAMP1 SPR PMPCB GNB1 TMEM231 PEX1 FMN2 NDUFA9 CRLF1 MAN2B1 LAT2 MICU1 SORL1 ENTPD1 MINPP1 RLIM FLRT1 GLRX5 DEGS1 TIMM8A TUBGCP2 TNIK ALG11 CCNF LIMK1 CP KCNA4 BCL11B PCBD1 ARHGAP31 NDUFA4 PIGC NR4A2 NDUFS1 MFF ACP5 PNPT1 SLC33A1 SET EIF2B4 EPHA4 DAO NSD1 CDK19 OCLN GDAP2 DDHD1 MT-TL1 MT-TV DPYD GFM1 COLGALT1 DBT PIGN TOMM40 TAF15 NSUN2 TUBGCP6 APC HEXA DNMT1 TDGF1 TRAPPC4 SPTAN1 FARS2 TERT DHCR24 RHOBTB2 BRAF KDM5B MRM2 AGA MATR3 IFIH1 GPHN POLG2 TECPR2 EZH2 CNKSR2 LIAS MSH2 JAM3 ANXA11 MTHFS TUBB3 TRPM3 TDP1 PDGFRB LIPT2 PINK1 HMGCL ERCC3 SLC25A46 GPT2 CDKL5 OTUD6B SEMA4A PIGP TMEM67 PEX3 NDUFA8 NDUFC2 SIK1 CHMP2B COG4 OSGEP FA2H ERCC4 CLIC2 GRIN2D SLC25A10 GCH1 TSEN2 RNASEH2B SELENOI BCL7B CNOT1 CCDC88C NTNG2 SCYL2 ACER3 SLC6A3 MT-ND5 ATP6AP2 HLCS MACF1 SUOX CDC40 MPLKIP CYP27A1 HSD17B4 SIL1 EPB41L1 DEAF1 COL4A2 KIF1C IARS1 SERAC1 LMX1B UNC13A NDUFS2 ZNF335 KIDINS220 INPP5K APP EIF4G1 PARN MT-TK TARS1 BUD23 HNMT KAT6A NDUFA13 OSTM1 LRRK2 EEF1A2 FIG4 SLC12A2 POLR3GL AUTS2 TXN2 PRRT2 PEX12 EXTL3 ANG GBE1 ADCY5 SOX2 SPAST SCN9A ELP2 MT-TI VPS11 SLC20A2 PLCB1 CRADD ECHS1 SUCLA2 CRYAB APOE NDUFS4 IREB2 MLH1 MT-TP ACD NPHP3 GABBR2 SLC30A10 GRM7 EDNRB ATAD1 PIGQ ADH1C EMC1 HEXB RTTN ADSL KDM1A NUP214 TARDBP VAPB TELO2 PCYT2 MARS2 QDPR LOXL1 PAX3 NDUFA6 CELF2 DLD NOTCH3 CLIP1 FOXG1 PHACTR1 VPS4A SON ATP2B3 WDR45B MT-TW VAMP1 AGTPBP1 KCNJ6 DNAJC13 GABRA1 XPC PNKD TAF1 NDUFAF4 ATP1A3 MT-ATP6 NEK1 PEX13 PDHA1 TGFB1 RAB11B VPS13D FMR1 PAX1 ABHD11 GSS CKAP2L GIGYF2 UQCRC1 DARS2 ACOX1 NTNG1 NEUROD2 GABRA5 FDX2 WDR26 STX1A EIF2B1 PRKN NDUFA10 AASS ABCA12 EPCAM WARS2 NDUFV1 GNAO1 ITM2B TP53 VPS13C PI4KA YWHAG STAMBP MLC1 KCNQ2 GLT8D1 PCCB GTF2IRD2 ASPA DYRK1A CTSD DLAT REEP2 DOCK8 DOCK6 VPS37D BRF1 PODXL MCOLN1 EED EIF2B3 NDUFAF2 SNX14 SPG7 TREX1 ANKLE2 EML1 HDAC8 POU3F3 SLC18A2 LINGO1 HIVEP2 CNPY3 ARHGEF9 SUMF1 MLH3 COQ5 TBL2 WDR4 BCKDHB CRBN KIF2A SLC35A2 NPC1 CYP7B1 DNAJC12 BEAN1 GLUD2 EPRS1 ASXL1 C9orf72 NDUFS8 DAB1 GTF2H5 ARNT2 DYNC1I2 ISCA1 RAD21 TRIM8 YIF1B SQSTM1 PRPS1 CNTNAP1 B4GAT1 SDHAF1 NOVA2 TRAF7 TTPA BRSK2 EIF2AK3 NIPBL HEPACAM NUP107 GJA1 SMPD1 SEC31A COX15 JAM2 PARS2 STIL KIF5C ASH1L FKRP NDUFS7 MDH1 AP4B1 CLN5 PIGU FLNA SLC45A1 SLC2A3 OPTN IRF2BPL SLC1A3 TSEN15 VAC14 COPB1 SPG21 RPS6KA3 TMX2 HS2ST1 BTD SDHD GAD1 JPH3 BMPR1A EXOSC9 EOGT MARS1 PCDH12 MTO1 CFAP410 FBXW11 KCNQ5 NBEA ABCC8 ADARB1 SNORD118 VPS13A KANK1 TECR LBR GATAD2B TCF20 LYRM7 MYT1L PEX10 GFAP CHMP1A ATM GRIA3 PON1 MFSD2A MRPS22 GLE1 NDUFAF3 AFF3 FXN PEX14 SVBP MOCS1 POLA1 FBXO31 PARK7 SLC25A4 GTPBP2 SLC5A6 HLA-DRB1 PAFAH1B1 ARSI FUZ SLC1A4 DHPS NCAPD3 CNP PLPBP CHCHD10 NCAPG2 HTRA1 TMEM106B ASXL3 ALKBH8 TPK1 TARS2 PEX11B BAZ1B ABHD12 FDXR NR2F1 UGP2 ACTA1 LRPPRC KCNT1 H1-4 TUBA1A VPS53 RNU4ATAC PCDH19 TWNK AIFM1 TRIT1 FKBP6 CLDN4 MLXIPL PLK4 FBLN1 HIKESHI DALRD3 ASAH1 ATP6V0A2 TUSC3 ACAT1 DDC MFN2 HP_ORTHOSTATIC_HYPOTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORTHOSTATIC_HYPOTENSION DBH COL1A1 IL12A NTRK1 ARSA MMEL1 TTR TNPO3 SNCA GMPPA CHCHD2 CYP11B2 TNFSF15 ELP1 SPG11 IRF5 LEP HEXB LEPR VPS35 SIM1 COQ2 CYB561 DNAJC13 ATP7A EIF4G1 GBE1 IL12RB1 POU2AF1 AAAS CHRNA3 LRRK2 GSN COL5A1 LMNB1 COL5A2 GBA SPIB PSAP CAV1 GIGYF2 HP_SYNCOPE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNCOPE CRELD1 SCN5A JUP PKP2 KCNE1 KIF20A ABCC8 CLCNKB CACNA2D1 DSP CASQ2 KCNJ5 SEMA3A KIT DBH GPD1L HNF1A NPPA SMARCB1 NTRK1 MPL ZNF365 CACNA1C CACNB2 PRKAG2 KCNQ1 UCP2 AKAP10 LMNA ANK2 SCN10A HLA-DQB1 MYH6 KCNJ8 AKT1 KCNH2 RYR2 MYPN AKAP9 BAP1 CTSH HCN4 TRPM4 SNTA1 GNB2 GATA6 KCNE2 PIK3CA NF2 SMARCE1 NKX2-5 RANGRF TBX20 MGAT2 PSEN1 TBX5 TLL1 SCNN1A GATA4 KCNJ11 FLNC SCN3B COQ2 ASXL1 PSEN2 TRDN SMO PDGFB ALG10B SCN4B TECRL TNNI3 TERT KCNJ2 CALM2 KCND3 CALM1 JAK2 THPO CALM3 SCN2B MOG TNNT2 HCRT HLA-DRB1 TNNC1 NR2F2 TRAF7 RNF125 SLMAP NOS1AP CITED2 TET2 SUFU SCN1B P2RY11 KCNE3 BVES MYBPC3 ACTC1 NOTCH2NLC SRSF2 DSC2 CAV3 ABCC9 SLC12A3 TNFSF4 KCNE5 HP_TETANY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TETANY TBX1 SEC24C GATA3 CYP2R1 SLC12A3 TRPM6 PTH RREB1 TCIRG1 CLDN16 TBCE KCNJ1 ARVCF COMT CASR SLC12A1 HIRA CYP27B1 JMJD1C GP1BB UFD1 HP_BULBAR_PALSY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BULBAR_PALSY ATXN1 COL13A1 ABCD1 FUS MATR3 ACTA1 SLC18A3 SLC52A3 LMOD3 MYH7 DOK7 PLAA CHCHD10 VAMP1 GIPC1 GSN C9orf72 SQSTM1 TPM2 SNAP25 CHAT TBK1 DNAJB6 HK1 SLC5A7 DES TPM3 SLC52A2 VCP TRPM7 TIA1 AGRN CHRNE AR PET100 SYT2 TARDBP MYO9A MTRFR ARSA RYR1 SLC25A1 NEB CHRNA1 TK2 SELENON HP_AREFLEXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AREFLEXIA LARGE1 MRE11 OPA1 MPV17 MYL1 COL12A1 SLC18A3 TPM3 GAA MED25 PDK3 TECPR2 EGR2 NEFL ABHD5 HARS1 PRNP MPZ PAX7 ERCC8 PPP2R5D VCP FXR1 PRPS1 COX6A1 DAG1 GDAP1 CHCHD10 IFRD1 DES OCRL TRPV4 MYO9A ERLIN1 POLG2 GIPC1 POLG SPG11 MEGF10 TDP1 TWNK SLC25A46 HACD1 GAN KIF1B ATP1A2 PYROXD1 ALDH18A1 GMPPB PEX5 ERGIC1 KBTBD13 PNKP COL13A1 DYSF MYOT POMGNT2 RYR1 PLEKHG5 ATP1A3 TPM2 TFG SMN1 MORC2 HNRNPK PMP22 CNTN1 CARS2 SYT2 RRM2B UGDH MME VPS13A NARS2 SLC25A1 MTM1 KLHL41 OPA3 MTMR14 GJB1 B4GAT1 ITGA7 LRSAM1 AIFM1 ATXN1 SPEG NEB SNAP29 COLQ PPP1R21 SIL1 SCYL2 ACER3 PIGB PNPLA2 MYH14 PLA2G6 GNE MYO1H HADHA HSD17B4 DNM2 FGD4 POMT2 AARS1 CHAT TTPA SACS ASCC1 COL4A1 SUCLG1 LPIN1 RAB7A ATXN3 CRPPA JAG1 PDXK ACTA1 CNTNAP1 DNM1L UBA1 RAI1 MFN2 DHX16 TCAP SCN9A LGI4 DPAGT1 SPTBN4 SLC12A6 DNAJB2 B3GALNT2 SCO2 TBCD MYPN PEX11B TBCK PRX PLEKHG4 VAPB RFC1 POMGNT1 CFL2 HK1 ACOX1 FHL1 PIK3R5 SLC1A3 GLE1 SLC52A2 MTTP KCNK9 PNPLA6 SPTLC1 TRIM2 REEP1 SMN2 LAMB2 INPP5K RXYLT1 STIM1 SLC5A7 ADCY6 PDSS1 ATP6AP2 FLVCR1 RNF170 FKRP ASAH1 DKK1 PEX1 ATP1A1 POMK MYL2 VAMP1 MT-TT BICD2 GOSR2 XRCC1 HADHB INF2 CDK5 MCM3AP MYF6 LAMA2 PIEZO2 DNAJC3 LIFR SH3TC2 SLC25A21 ZC4H2 DCAF8 KLHL9 ALG6 SOX10 IBA57 SBF2 KARS1 HSPB8 ERCC6 MAG BIN1 ALDH4A1 PLEC ARL6IP1 HSPB3 SETX TYMP PEX12 DPYD FXN SQSTM1 APTX ALG1 TTN KIF1A POMT1 MTRFR HINT1 SLC25A4 PEX3 XK ALG2 PGM3 FIG4 MARS1 NDRG1 ALG14 GARS1 ARSI RETREG1 SNAP25 ORAI1 CD59 HSPB1 DST C19orf12 ENTPD1 FKTN AGRN TRIM32 WNK1 IGHMBP2 ACO2 PEX2 JPH1 SURF1 SBF1 AMPD1 LMNA SELENON RNASEH1 GFPT1 CACNA1A ERBB3 MAP3K20 SAR1B TRIP4 RMND1 GEMIN5 LRP12 HP_SPASTIC_TETRAPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_TETRAPARESIS FA2H HSD17B10 PRDM8 LMNB1 FAR1 RERE PLP1 AUH L2HGDH PRUNE1 PAFAH1B1 PHACTR1 EIF2S3 SLC35A2 PSAT1 EARS2 PRPS1 ADAR MFSD2A EXOSC8 ALS2 COA8 DYM STAMBP SDHAF1 SLC18A2 STXBP1 GSS SDHB KCNQ2 SOD1 TRAPPC4 SOX4 KCNJ6 ABCD1 LIPT1 LMX1B IFIH1 AFF3 ARX MRM2 SDHA NUP62 MOCS1 MT-ATP6 PSAP PSEN1 FBLN1 ERLIN2 TACO1 ATP6V1A GM2A SMC1A ALG3 TBCE LYRM7 REEP1 WDR62 PLA2G6 AASS LIPT2 APOE SDHD HP_MENINGITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MENINGITIS TNFRSF13B PRTN3 BLNK TLR3 UBAC2 IL10 HLA-DPA1 SLC35C1 MRTFA IL23R IL12A SH2D1A PTPN22 WIPF1 BCL6 NLRC4 IGLL1 NCF1 C8A WAS HLA-DRB1 BTK JAK3 IGHM MEFV TFRC PRF1 CD79B CARD9 CCR1 LRRC8A KLRC4 BCL2 FOXP3 STAT4 C4B IL12A-AS1 NLRP3 C4A ICOS FAS CYBC1 HLA-DPB1 P4HA2 FCGR3B CR2 TCF3 NCF4 HLA-B DNASE1L3 RAG1 PIK3R1 C8B CD79A ERAP1 NDE1 CD19 RAG2 RFX5 NCF2 TNFRSF13C CTLA4 XIAP VANGL1 CD40LG TLR4 CXCR4 RFXANK CIITA TBK1 CYBA IL7 RFXAP CYBB CFB HP_GAIT_DISTURBANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GAIT_DISTURBANCE PSEN1 CCDC32 SATB1 MECR PDYN CACNA1A ADGRG1 SEMA3A ERCC8 EIF2S3 CAMK2B VPS51 NEFL PNPLA6 ABHD5 NKX2-1 TCTN3 DNAJC6 NTRK1 GRID2 GABRB2 WDFY3 SH3TC2 MPZ CTNNA2 AMPD2 SLC39A14 SLC25A19 NBEA CEP41 DCPS FGF14 CACNA1B PIK3CA AIMP2 SPEN MT-TS2 ATXN10 PUS3 MAP1B SIX3 RPE65 ZEB2 MT-ND1 KIF5A ZSWIM6 VLDLR SAMHD1 FGF8 MT-ND4 MYH7 INPP5E KCNMA1 ATL1 ANO10 NTRK2 TWNK SNRPN MT-ND2 NGLY1 TRAK1 HUWE1 TBP MAPT USP7 GLI2 PRKCZ CYP27B1 ALDH18A1 MATN3 SUCLG1 KBTBD13 ARCN1 RSPRY1 PDHX VPS41 PLP1 MIEF2 RANBP2 DOCK7 MAPK8IP3 ERCC2 MYOT EXT2 HSPD1 CA8 LMNA ZFR EEF1A2 AP1S2 NCF1 TMEM237 CERT1 ELOVL4 WASHC5 AP2M1 HNRNPK PMP22 ATCAY RRM2B ERAP1 PROK2 CCT5 BVES SORD TPI1 EIF2AK2 PTCH1 GJB1 UBA5 NAA10 JARID2 YWHAG DNM1 ORAI1 AHI1 TK2 ZMIZ1 PLA2G6 SLC9A6 POMT1 FBXO7 DMPK PRNP ATXN8OS PGAP2 FKRP CAPN1 GBA ELN SACS SCN1A NODAL EIF4H SETX TMEM106B HLA-DQB1 MMP13 NEB KIF1A CYFIP2 NUP62 SLC34A3 LYST MYPN WDR48 DNM1L MED27 GMPPB DEAF1 COL10A1 AARS1 NKX6-2 GOT2 SCN3A EPM2A PNPO OPA1 DHX16 PSAP TPP1 NHLRC1 B4GALNT1 TFG GRM1 CLDN3 HNRNPH2 ATN1 TCAP CLDN11 FAR1 SNCA GJC2 IL10 SHH HSPG2 SLC30A9 LARGE1 TCF4 WWOX FKTN SDHB SLC25A4 FKBP10 CFL2 PPP3CA QRICH1 ADAT3 SUFU CLN8 KY AP4M1 MTTP BSCL2 SYT14 INTS8 COL2A1 GBA2 TRIM2 ATP6V1A SCN4A TMEM270 OPA3 HK1 TGIF1 TRAPPC11 HERC2 REPS1 HS6ST1 RNASEH1 ATP1A3 SPTBN2 RTN2 MT-TE COA8 KCNQ5 SIGMAR1 MME DNAJB6 ADAR C4A RFXANK GAN AKT1 BAP1 MECP2 B3GALNT2 FLVCR1 KMT2B PRKCG FGFR1 LRAT CEP104 TRPV4 EED RNF113A METTL27 CHRND TH NDRG1 SOX10 LAMA2 ARID1B ALS2 NOTCH3 LMOD3 PRX REEP1 CUL4B CHKB HS2ST1 SLC1A2 PPP1R15B HCN1 NIPA1 PUS7 ACTL6B DCAF8 SCYL1 MT-CO1 P4HTM RPS20 NACC1 TPM2 PLOD1 PDP1 PIGS PDE6D IQSEC1 PLEC NT5C2 HSPB3 TRAF7 RLIM TAFAZZIN IKBKG SYNE2 COMP SQSTM1 RFC2 TTN PIGW VCP ATP13A2 FGF13 KCNA2 NOTCH2NLC BCORL1 ATP1A2 PDE8B ACTA1 DDX6 FAM126A STUB1 MARS1 TMEM251 TBC1D24 SLC35C1 KCNB1 CLIP2 SNCAIP MRPS34 POLG DSTYK SNAP25 OPHN1 DCC CAD NDUFAF6 IFIH1 FOXRED1 MSH6 ABCA2 VDR TMEM216 TRIP12 GRIA4 PRKRA ZIC2 CPLANE1 ARSA PREPL IGHMBP2 KATNIP TCTN2 ALPL POMT2 ERCC6 PYCR2 TMEM107 SURF1 MICU1 TMEM67 DHDDS VWA3B ERBB4 DPYSL5 NDNF ATAD3A SLC9A1 TGM6 DPM3 HACE1 ACAN TBC1D23 PMS1 PDE10A SYNGAP1 FGF12 MT-ND6 PDGFB SGCA GFPT1 BRAT1 COQ2 NOL3 POU3F4 TREM2 NUS1 ACTN2 NARS1 SZT2 NPHP1 AP4S1 DYSF ATXN3 KLC2 MRE11 KMT2E MPV17 GTF2I SGCD RAB39B TBC1D2B GRIN2A INTS1 ARL6 DOK7 MEF2C GALC PTS PGAP1 UROC1 C9orf72 CAPN3 SYNJ1 CCR1 SPG11 SPTBN1 TGFBR2 ITPR1 STXBP1 RFXAP PMS2 MTRFR ZNF469 ZFYVE27 WASF1 MFN2 ERLIN1 MGAT2 PPM1D SLC16A2 CLTC CHAMP1 MMADHC SLC6A5 GABRA2 TACR3 CACNA1E CCDC141 EMD SATB2 BPTF RERE GABBR2 DDX3X PTPN23 SMS MAFB TOP3A CIITA PNPLA8 GARS1 FMR1 ZFYVE26 STAT4 CLCN2 CACNA1G SLC6A8 PABPN1 FAT2 ATXN2 HPDL CEP120 COL12A1 SYNE1 DNAJC30 DYRK1A ELOVL5 SYT2 ERLIN2 FBN1 C19orf12 PSMD12 CHD2 AGO2 POC1A LRSAM1 DYM COLQ CWF19L1 FOXH1 KIAA0586 BEAN1 EIF2AK3 PNPLA2 DNA2 SLC26A2 HADHA PURA TLK2 ERCC1 PDE2A NUBPL GPAA1 PMPCA TMEM240 GRIA2 STAG2 PRKAR1B CDON DPAGT1 HERC1 ST3GAL3 TSPOAP1 UBE4B DKK1 ADSS1 RYR1 CRPPA SGCG PIBF1 MAGEL2 TCF20 SMO SLC17A5 KAT8 SLC18A3 KCND3 TRPC3 B9D1 MATR3 SLC7A6OS UBE3A CYP2U1 GTF2E2 TPM3 MICOS13 PEX6 FAN1 ZC4H2 AIFM1 COL6A3 GSX2 ZFTA ACOX1 USP8 CSPP1 TBC1D20 PEX5 RUBCN CUX2 ATP10A FEZF1 KIAA0753 NOP56 SPTLC1 TRAPPC4 DLL1 SLC5A7 SPRY4 AFG3L2 MADD THOC2 HTT MT-TS1 GRIN1 GTF2IRD1 ASAH1 SLC6A17 KRAS NTNG1 FLII UBAP1 COL9A2 MEFV ATP1A1 MTHFR TRMT10A AP5Z1 LMX1B MT-ND3 POMGNT1 DMD SLC12A2 AP4E1 BICD2 CCDC28B LRP4 GABRG2 XRCC1 LMNB1 SPART INF2 PIGY GAS1 EIF2B5 DOCK3 SHMT2 CPT1C MAPK10 MT-TH DUSP6 LARS2 COL9A3 FGF17 LCA5 VAMP2 ALAD IL12A-AS1 ARL6IP1 YY1 EIF2B2 APTX UFSP2 LNPK PIGL MKS1 TBR1 FIG4 HSD17B10 AP3B2 MORC2 L1CAM SAMD9L PITRM1 MTPAP COASY EEF2 PAK1 SCN1B BIN1 ALG2 UNC80 SMARCB1 AR FTL GNB1 TIA1 CLN3 MAN2B1 HSPB1 LAT2 IBA57 ENTPD1 DISP1 FLRT1 TRIM32 MSTO1 GLRX5 NF2 PLD3 KLHL41 SDHA HPCA LRP5 NEFH LIMK1 KCNA4 BCL11B PRDM5 MYH2 CHD3 GABRB3 CACNA2D2 NR4A2 SPATA7 ATP8A2 NOG CPLX1 VAMP1 MFF C12orf4 SLC33A1 NEU1 EIF2B4 CSF1R GDAP2 DDHD1 SPATA5 MT-TV GABRD COL6A1 CIZ1 GNE VPS16 TGFB1 APC LDB3 ANOS1 HARS1 TDGF1 PAX7 PPP2R5D STRADA CDK19 RHOBTB2 SLC13A5 PRPS1 FAS MAST1 CHCHD10 IFRD1 DES SPTLC2 GPHN MYO9A MDH2 POLG2 TECPR2 CNKSR2 MSH2 SLC6A1 TUBB3 TDP1 PDGFRB SLC25A46 TCTN1 KIF1B MAP3K20 GPT2 OTUD6B SEMA4A SGCB PIGP FUS ANO5 CHMP2B GLB1 WARS1 FA2H GLRA1 CLIC2 RFX5 MT-TW SELENOI NEXMIF SLC25A1 FHL1 RFC1 BCL7B GDAP1 MTRR NEUROD2 SPEG CCDC88C PEX10 PPP1R21 NTNG2 MT-ND5 IL23R ATP6AP2 SELENON MPLKIP HSD17B4 CDK10 SIL1 CHAT KIF1C SERAC1 FN1 PEX2 KIDINS220 FLRT3 INPP5K CTBP1 PACS2 SVBP TANC2 MT-TK SCARB2 TARS1 BUD23 KAT6A SLC39A13 SLC39A8 SLC18A2 LRRK2 UCHL1 FLNA CC2D2A DNAJB2 SIM1 PLEKHG5 GMPPA PLEKHG4 CAMTA1 KDM5B ERMARD MAB21L1 FLNC MT-TF EXTL3 PIK3R5 GLE1 GRIN2D GBE1 TRAPPC2L SPAST SCN9A DAG1 LAMB2 SLC20A2 PGAP3 PDPN SUCLA2 TUBB4A APOE RPL10 MLH1 UBAC2 RNF170 ARMC9 PCNA MT-ATP6 SLC30A10 CHRNG ATAD1 ADH1C WNT1 ADSL APP FBXO38 EIF4G1 TELO2 GOSR2 MARS2 CYP2R1 MYF6 TLR4 CELF2 ACBD5 CDKL5 ATP2B3 WDR45B ERCC3 KCNC3 LUZP1 AGTPBP1 ATP7B DPYD ACTL6A DNAJC13 ARV1 PTEN GABRA1 ELP1 TAF1 GALT FOXG1 TKFC RAB11B VPS13D RNASEH2C MT-TL1 SMARCAL1 ABHD11 ABCD1 LAMP2 MTFMT RNASEH2A DARS2 PPP2R2B SYT1 FDX2 MT-CO2 VARS1 MBTPS2 WDR26 STX1A GABRA5 EIF2B1 HLA-B KCNA1 PRKN DHTKD1 LTBP4 AASS SLC2A1 EPCAM IQSEC2 EGR2 MTOR SBF1 RPGRIP1L COA7 SLC25A15 MT-CO3 DCTN1 NAT8L SCN8A IL12A PACS1 VPS33A DNM2 TRIO MED13 ATXN1 WDR11 KCNQ2 PTH1R GTF2IRD2 MED12 ASPA PMP2 DYNC1H1 RNF125 CHD4 DLAT REEP2 ERBB3 DNAJC3 VPS37D PODXL JPH3 ERCC4 EIF2B3 SNX14 SPG7 CAV1 TREX1 PKP1 SLC12A5 PDK3 PDHA1 MMP23B LMNB2 GCH1 GEMIN4 FCSK DHX30 COX6A1 WDR81 GYG1 ARL13B MLH3 GIPC1 CHST3 COQ5 TBL2 GIGYF2 CBY1 ARL3 CARS1 SLC35A2 MAN1B1 UBR7 NPC1 BBS1 TTBK2 CHCHD2 VPS13C RELA COL13A1 DNAJC12 FARS2 ADCY5 GLUD2 WNT3A EPRS1 ASXL1 CRAT UBTF PPP2R1A NRXN1 GRN KDM4B SRCAP HESX1 MMP2 DAB1 GTF2H5 MTMR14 RNF168 DYNC1I2 SCN2A MYO1H FGD4 SDHAF1 TTPA CFAP43 KDM5C MTM1 OCA2 RAB7A SMPD1 SEC31A ZBTB20 PINK1 PARS2 MYH3 TBCD TACO1 CASK CANT1 CNOT3 HNRNPA1 KIF7 AP4B1 CLN5 VPS37A SCO2 CREBBP CCN6 CRYAB TBCK KMT2A XRCC4 FRRS1L RNU12 RBM10 SLC2A3 GFM2 USP9X VPS35 PANK2 MT-TQ VAC14 GNB4 COPB1 SPG21 TRMT1 EP300 RPS6KA3 COL6A2 CDK8 FBXW11 PRRT2 SDHD TENT5A MYT1L BMPR1A RAI1 ATP5F1D DHH RARS1 KLRC4 HYLS1 PIGG PIGV PROKR2 POPDC3 ARG1 CAMK2A TMEM43 SNORD118 VPS13A KCNJ10 HADHB WARS2 CHD7 NECAP1 HTRA1 MCM3AP TOR1A PIEZO2 LYRM7 GJA1 SLC25A21 ATM SHANK3 MFSD2A KLHL9 SBF2 RNASEH2B KARS1 ZMPSTE24 ATL3 HTRA2 ALDH4A1 FXN LONP1 GLRB FAM149B1 UQCRQ SLC19A3 HINT1 PARK7 MED25 GTPBP2 CYP27A1 PALS1 KDELR2 GNPTAB DDHD2 ALG14 TYROBP SMC1A MCOLN1 ARSI TIMM8A FUZ SLC1A4 IL17RD DHPS ARX MARCHF6 THRA STAC3 KCNAB2 AGRN ASXL3 TANGO2 SMARCE1 MLXIPL HNRNPA2B1 TUBB2B SKI NDUFS8 BAZ1B FDXR TERT CLCN4 PIGO OFD1 LRPPRC EBF3 COL9A1 CASZ1 PRDM16 CYP7B1 PCDH19 THG1L ATP7A FKBP6 CLDN4 MBTPS1 DALRD3 TNRC6B MBOAT7 EMC1 GEMIN5 SMG8 CP MTR RIC1 LRP12 TSEN15 HP_CONFUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONFUSION SLC2A1 ERCC3 CACNA1A CPOX SCN1A PRDM8 SLC25A15 FIG4 ERCC5 ABCA7 TOMM40 TBP DNMT1 TLR3 UBAC2 IL10 POLR3A MAN2B1 IL23R IL12A SLC19A3 NAGS MMACHC ADAMTS13 EPM2A CDKN2B MT-TE SLC25A13 GNAS CDKN1B RYR1 MEFV CUBN CCR1 PSEN2 KLRC4 STAT4 ALAD ABCD1 ALDH4A1 IL12A-AS1 C4A SLC22A5 HMBS ERCC2 HLA-DQB1 SORL1 FAS CDKN2C APP TREM2 HLA-B MEN1 CDKN1A HADH PRNP CHRNA2 ERAP1 PRDX1 ATP1A2 ATP13A2 TLR4 PRRT2 NHLRC1 PSEN1 TBK1 NOTCH3 ERCC4 HP_GENERALIZED_HYPOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_HYPOTONIA RNU4ATAC SLC25A15 TRPS1 KIAA0586 CCDC47 SELENON CACNA1A CEP290 HERC2 GAA PUS7 AGK SFXN4 EIF2S3 KMT2D CAMK2B VPS51 STT3A ALG13 NSUN2 BMPER HNRNPK MMADHC GRIK2 APC HEXA KANSL1 AIMP1 TCTN3 ASH1L TK2 KMT2C WASHC4 MRPS28 MPZ SPTAN1 PAX7 KCNMA1 CTNNA2 PPP2R5D STRADA RPS6KA3 CDK19 DCPS RHOBTB2 SLC13A5 B3GALT6 ADAM22 BRAF UBE4A MSTO1 QARS1 ATXN10 MAST1 PUS3 AGA CHRNE PC CDK13 SIN3A ZSWIM6 VLDLR POLG2 TECPR2 SC5D CNKSR2 LIAS ABCC8 ASXL2 BCS1L GABRB2 ATP6V1B2 ALDH18A1 NTRK2 CHST14 SLC46A1 TMEM70 SNRPN SLC25A46 TRAK1 VARS2 NOTCH3 MAP3K20 ACTB NPHP1 CYP27B1 MANBA FBP1 OTUD6B SLC1A2 CEP41 MMAB NDN FAT4 TDGF1 TMEM67 PEX5 KBTBD13 RSPRY1 DMPK CHRND NANS ALDH5A1 GMPPB NAGA GPC3 ATPAF2 PHIP MYO5A MAPK8IP3 ERCC2 NDUFA12 MTOR EXT2 CTNNB1 SLC7A7 COG4 FMN2 OSGEP COL1A2 KIF14 NDUFA10 SLC13A3 ACAD9 PUM1 AP2M1 RARS2 SLC25A10 PMP22 NDUFV2 ATCAY B3GALNT2 RFT1 RRM2B RNASEH2C KCNT2 UGDH ZIC1 ATP6V1A TPI1 COL6A3 RPGRIP1L PTEN MTRR CNOT1 GCDH UBA5 ARID1A NAA10 ADNP CACNA1C SPEG COL13A1 ACAT2 DNM1 NEB RERE SLC25A20 B3GAT3 DIAPH1 SLC35C1 PIGB FIG4 MAPRE2 NEU1 HLCS PLA2G6 SLC9A6 SLC2A10 MACF1 SUOX MPLKIP FBXL4 PRNP CDK10 SIL1 KIAA1109 TRMT5 SHOC2 CWF19L1 IARS1 SERAC1 PEX2 PACS1 GLUL HPRT1 MPC1 PTCH1 OTX2 SLC33A1 INPP5K CTBP1 PACS2 COQ9 NONO CYFIP2 TOR1A TMEM94 SLC34A3 CNTNAP1 SIX3 CCDC115 CRPPA TARS1 AARS1 HNMT NKX6-2 TWNK AP1S2 HADH DNM1L SCN3A KAT6A ARL13B RAI1 OSTM1 DGUOK DHX16 VRK1 SNORD116-1 PSAP NECAP1 NDUFS3 EEF1A2 SPTBN4 SLC12A6 AIFM1 MYH7 ACP2 HIVEP2 SLC12A2 FOXH1 ACADS STXBP1 EXOSC3 BCL11B MYPN TCF4 WWOX SMG9 KAT6B GMPPA DDR2 TMEM165 PWRN1 AUTS2 TXN2 PPA2 SDHB SLC25A4 GFPT1 PHF6 MKRN3 D2HGDH CFL2 PWAR1 PPP3CA NARS1 EXTL3 ARHGEF2 GLE1 AHDC1 GRIN2D KIFBP KCNH1 PEX10 SDHA TOE1 TRMU PLEKHG2 NCDN SOX2 DLD COL2A1 PET100 TRIM2 IGF2 DALRD3 COX6B1 TIMM50 PDE6D LAMA1 GABRB3 NDUFV1 PGAP3 NFIA MN1 CRADD SMARCB1 B9D1 SUCLA2 ADCY6 CHD1 IQSEC2 ZBTB18 TRAPPC11 REPS1 GAS1 STRA6 FLVCR1 POLR3A SLC35A3 ATP1A3 SPTBN2 SYNJ1 PEX1 SLC25A24 PHKB COA8 KCNQ5 NDUFS7 PRF1 CAMK2A SERPINH1 TRIP12 EMC1 CLCN4 ITCH ADSL PEX14 GAN PPP2CA NUP214 NSDHL STAG2 TKT CHST3 CPLX1 GNB1 LRPPRC RAC1 TSEN2 DHDDS FKTN ZC3H14 LINS1 ISCA2 GCSH CYP2R1 TRIP4 MGAT2 NDUFA6 GM2A MAG SCO1 EED MED23 EZH2 RNF113A DLL1 ARID2 FASTKD2 MYF6 MAPK1 TH FKRP PEX16 CELF2 PRX DEAF1 PSMD12 FARSB CLIP1 HECW2 INPP5E ACY1 FOXG1 HCN1 ZC4H2 METTL23 FARSA UBE3B FLAD1 PRSS12 TRAPPC6B EPG5 AHI1 PNP POLG P4HTM MPDU1 NACC1 TPM2 SYNE1 DOCK6 NDUFAF2 PDP1 COL1A1 PIGS ERCC3 ELAC2 DPAGT1 KCNC3 SUZ12 IQSEC1 EN1 SRD5A3 AGTPBP1 PEX12 TMEM216 DCHS1 ARV1 SUFU ALG1 USP7 OGDH TTN ATXN2 TUBB2A TAF1 NDUFAF4 FGF13 MTRFR KCNA2 SZT2 NKX2-1 ALG9 GBE1 TET3 RSRC1 BCORL1 ALG12 PEX3 BOLA3 CPLANE1 WAC TGFB1 INPPL1 ZEB2 ACTA1 NEMF COG7 RAB11B MAN1B1 VPS33B KIF5A COX15 COL12A1 MMAA NGLY1 PRUNE1 KCNB1 GARS1 KMT2E AP3D1 MRPS34 EBP CSPP1 POGZ EDC3 SCN8A BSND MTFMT COX10 OPHN1 CPT2 KDM6A LETM1 CAD GABRA5 PTCHD1 NDUFAF6 IFIH1 FOXRED1 LMBRD1 FDX2 GLI2 VARS1 MT-TN UFM1 WDR26 ATP6V1E1 CCDC22 MITF VDR EIF2B1 TMEM199 NEPRO HSPD1 NFIX CACNA1B ARSA PREPL ACADSB MYO18B MED12 DDOST SMC1A TCTN2 ASXL1 SETD2 B4GALT1 GRIN2B PNPLA2 SIX6 TMEM107 NDUFAF5 SLC1A3 NAT8L GNAI3 KDM5B PEX6 GNAO1 HACE1 TBC1D23 DNM2 ATXN1 YWHAG MBOAT7 STAMBP KCNN3 BIN1 SYNGAP1 GALNT2 FGF12 KCNQ2 BCKDHA SOX4 ATP7A ATP5F1A TMEM237 METTL5 PEX19 GNE SKI RNF125 RETREG1 ERCC6 CHD4 PTDSS1 NUS1 PCBD1 AP3B2 DHFR ALDH7A1 OXR1 MCOLN1 RET EFEMP2 KCNJ10 SCO2 EIF2B3 RMND1 SNX14 TBCE ALPL CLCNKA NDUFB9 CUL4B GPT2 MCCC1 MRE11 NDUFS1 CNTNAP2 BUB1B ZNHIT3 IARS2 ANK3 POU3F3 LMOD3 SLC45A1 AMMECR1 MEF2C MIPEP SLC18A2 TNFRSF11A BPTF C2CD3 MED25 SARS1 FCSK GPX4 PLCB4 GRM7 DHX30 SGPL1 NAXE UFSP2 NDST1 ATIC STAG1 WASF1 ADK PRKD1 PPM1D MPV17 PRODH GNPAT CLTC MT-TE CHAMP1 GPC4 HADHA TRAPPC9 SGCE ERF FBXO11 KATNIP GABRA2 ITPR1 BCKDHB RYR1 COG1 CRBN GABBR2 DDX3X TUBB SMARCC2 KCNK4 NPC1 PNPLA8 SSR4 PPP1CB MKS1 DNAJC12 FGFRL1 DPM2 SLC22A5 MLYCD SLC6A8 MED12L SLC25A26 ATP6V0A2 HUWE1 DPM1 CASR CLP1 CRAT PDHA1 DYRK1A TELO2 GTPBP3 TP53RK PPP2R1A NRXN1 NPC2 FH CEP104 NARS2 ACTL6B TPM3 FGF8 KLHL41 EGR2 GTF2H5 MTMR14 TASP1 SETD1A FRRS1L CLCN6 DYNC1I2 POC1A GABRB1 PAX8 SPECC1L SLC9A7 CAMK2G CLCN7 RPS23 SLC25A42 YIF1B ARL3 DNA2 GPHN LRRC32 TLK2 CEP120 PGAP1 PRPS1 SET PMPCA POMT2 SDHAF1 UBR1 EFNB1 NOVA2 TRAF7 CHAT ASCC1 PIGH SLC39A8 CSF1R ACTN2 ETHE1 SLC35A1 VPS13B PBX1 CTCF ST3GAL3 DHCR7 TBC1D24 TSPOAP1 CSNK2B PARS2 CANT1 TSFM DAG1 GABRG2 PIEZO2 ARFGEF2 CIC SOX5 SCN9A PIGK COQ7 SLC17A5 MYOD1 PPT1 LGI4 MOGS ABCD4 KIF7 SLC18A3 MICOS13 RPL10 NALCN GNB5 AP1S1 UBE3A ELN CREBBP GTF2E2 ACACA KMT2A YME1L1 POU1F1 SMARCA4 CPT1A B4GALT7 PUF60 RBM10 KDM1A ALG8 ZNF462 MED13L IRF2BPL SLC52A2 PMM2 TBC1D20 PRKCG CCDC78 USP18 KCNK9 NFASC SARS2 NDUFA13 KIAA0753 CBL PRDX1 TRMT1 EP300 CSNK2A1 CC2D1A CDK8 MAMLD1 LRP5 DISP1 SMS PHF21A TDP2 COL6A1 SDHD RORA LONP1 CNOT3 TRMT10C ARHGAP31 PIK3CA VIPAS39 EXOSC9 GRIN1 TGIF1 C12orf4 MVK MTO1 FARS2 FBXW11 NSD2 PIGG PIGV COL6A2 LAMB2 POMT1 POLR2A ALAD EDN1 PGM3 SHH POMGNT2 GRID2 HIBCH KPTN TRNT1 GALE ADARB1 PGAP2 ATAD3A CDKL5 EIF2B5 TECR DOCK3 CNOT2 GLDC MCM3AP DMD BRPF1 ECHS1 TCF20 LYRM7 NDUFA11 LMAN2L CLCNKB ZNF148 CDC42 MORC2 RNF13 CHMP1A TMEM63A NUP133 SHANK3 MYMK MFSD2A MRPS22 AMER1 NODAL PEX13 PDHB GPAA1 ALDH6A1 TOGARAM1 SOX9 MARS2 NDUFB8 MPI HDAC8 EIF2B2 COG6 TANC2 KIF1A TSHB MSL3 CDON FAM149B1 UQCRQ POMGNT1 LNPK STT3B PIGL HEPACAM TTC5 COQ8A FBXO31 ACADM FLCN MRPS2 MAGEL2 ARX TBR1 GTPBP2 ALG2 EZR C12orf57 LIFR HNRNPU AMT ALG14 BTD USP9X CUX1 PAK1 HCFC1 MMACHC SNIP1 BCOR COX6A2 NRAS MTM1 SLC1A4 UNC80 EHMT1 ELP1 PMPCB MCCC2 CYP24A1 ZIC2 BMP1 CD59 PRMT7 FUT8 NCAPG2 MAN2B1 SLC5A7 C19orf12 PLP1 TMEM106B RLIM DNMT3A ASXL3 ALKBH8 TANGO2 GLRX5 SCN1B SPRED1 WNK1 MLXIPL TPK1 TNIK TARS2 HTRA2 FOXP1 WASHC5 NDUFS8 TRRAP KDM6B UBA1 ADAT3 MTX2 ODC1 CHD3 NDUFB3 DPF2 ST3GAL5 PIGC PIGT OFD1 HSD17B10 EBF3 KCNT1 KDM3B SPART TUBA1A COLQ PNPT1 LARGE1 LTBP4 HERC1 EIF2B4 SURF1 BMPR1A DDX11 LARS1 MT-TS1 CD96 TRIT1 NPAP1 UQCC3 PTRH2 HIKESHI COX4I1 CTU2 DPYD MMUT COLGALT1 KIF22 TUSC3 LAGE3 IFT81 DBT SNORD115-1 MTR PIGN TSEN15 HP_ABNORMAL_CRANIAL_NERVE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CRANIAL_NERVE_MORPHOLOGY POLG2 SDHD SGCD CFL2 SELENON MEOX1 SLC18A3 LMOD3 GJA1 TGFB1 MTMR2 DOK7 EGR2 ASAH1 DKK1 CDKN2B VHL MUSK TNFRSF11A LRP4 DNAJB6 ZNF41 TK2 TCIRG1 SH3TC2 COL13A1 POMT1 SLC9A7 SLC25A4 GAN AKT1 ANKH ZNF81 HOXB1 TPM3 PEX26 CHRNB1 BAP1 RYR1 FRMPD4 ITGB4 TMEM127 SCN4A ACTA1 CHRND SDHB CHRNE AGTR2 PTCHD1 TNFSF11 CAPN3 SLC39A14 PIK3CA ARX MYO9A FTSJ1 PAK3 SOST EYA1 RET SNX10 PLXND1 MYH7 SHMT2 CHRNA1 CRPPA FKRP SEMA3E MEGF10 MGME1 CLCN7 VCP CHD7 CACNA1A LRP5 PEX10 PDGFB SCN1A CLCF1 SDHC CHKB ABCA1 FRG1 ZC4H2 MYPN MYMK SYP GMPPB AMER1 KBTBD13 DLG3 ADA2 POLG ANO5 NEFL BMS1 TPM2 PEX3 DMPK DLST KARS1 COL4A1 BIN1 PLEC HK1 TFAP2A NOD2 COL6A3 HLA-DRB1 TRAF7 MAX NEB PABPN1 MTMR14 SQSTM1 PRKAR1A PEX14 TTN PUF60 GSN DNMT3A SLC19A3 MTRFR SYT2 SUFU RRM2B PEX2 SALL4 NARS2 PEX6 SLC25A1 MTM1 ATP1A2 PEX13 PRRX1 DMD KLHL41 OSMR ALG2 CHCHD10 ACSL4 ZNF711 PEX5 CNKSR2 MDH2 SPEG MID2 BICRA SIX1 COLQ PEX19 AK9 POMT2 ALG14 TFG ARHGEF6 FGF3 GNE GDF6 CNTNAP1 RAB39B DNM2 NF2 MPZ CDKN1B GJC2 SMARCB1 SNAP25 GDI1 CHAT AGRN RPS6KA3 PEX1 ALG13 ADGRG1 FKTN SLC5A7 MECP2 HRAS COL6A2 SRPX2 USP27X KY BTNL2 DLL4 TRIM32 PRNP CA2 SMARCE1 RAPSN KIF1B UBA1 TSPAN7 TUBB6 SMCHD1 PLEKHM1 HNRNPA2B1 KLHL40 MED12 SMO COL6A1 PEX11B HNRNPA1 PTDSS1 DPAGT1 SPTBN4 SLC12A6 IQSEC2 STEEP1 TERT OTX2 COCH SCO2 ACADS SLC52A3 LARGE1 CRYAB IL1RAPL1 PI4KA LAMA2 YME1L1 VAMP1 GDF3 GFPT1 PTRH2 UPF3B DNA2 PEX12 USP9X EPAS1 SDHA CLCN4 GLE1 FH DES SLC52A2 PEX16 SIX5 TWNK CDKN2C BAG3 CRLF1 MEN1 TUBB3 CDKN1A ADSS1 COL12A1 SLC25A11 DCTN1 HCFC1 GNAQ SDHAF2 LAMB2 REV3L SLC29A3 PRRT2 TRPV4 SUCLA2 ADCY6 NF1 LRP12 HP_CRANIAL_NERVE_COMPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRANIAL_NERVE_COMPRESSION HNRNPA1 CACNA1A SDHD SCN1A SDHC TCIRG1 TGFB1 DKK1 CDKN2B VHL CDKN1B CLCN7 TNFRSF11A DLST TNFSF11 COL4A1 RET EPAS1 SDHA MAX FH CDKN2C TMEM127 MEN1 VCP CDKN1A SDHB DNMT3A SLC25A11 CA2 KIF1B SDHAF2 SNX10 ATP1A2 PLEKHM1 HNRNPA2B1 PRRT2 NF1 MDH2 HP_STROKE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STROKE GTF2I B3GALT6 F2 MT-TS1 MYD88 ENG COL3A1 GTF2IRD1 MT-ND6 NAGS FBN1 TTR MT-CO2 FOXE3 MT-TV GYS1 KCNQ1 ZAP70 MTHFR ERCC8 ASS1 FHOD3 MYH6 TGFB2 APP ACVRL1 GLA TGFB3 ACTB MECP2 MT-TS2 ABCC6 TPP2 ALOX5AP ACTG1 TREX1 TBX20 SLC19A2 JAK2 GATA4 HTRA1 METTL27 SCN5A FLNC TBL2 CBS VHL HEY2 MT-TH NOTCH3 MYLK NF1 GUCY1A1 MPL OTC SON MT-ND5 LOX MT-CO1 SH2B3 CPS1 DPM3 ADA2 NDUFA8 ZMPSTE24 MT-TW COL4A1 ELN LMNA THSD1 TNNT2 MT-TQ ACAD9 NCF1 RFC2 AGXT TGFBR3 MFAP5 DNAJC30 F5 CITED2 PIK3C2A GDF2 MT-TC TNXB MYBPC3 ACTC1 BCL7B MT-ND4 PIGA SMAD4 CRELD1 BRCC3 KIF20A TGFBR2 HBB SNAP29 ENPP1 MT-TL1 SLC2A10 CLIP2 SMARCAL1 MYH11 ABHD11 TET2 MT-TF NPPA MMACHC ANGPTL6 KRAS PRKCH TANGO2 EIF4H LAT2 STX1A MYPN NOS3 WFS1 JAG1 MT-TK DPAGT1 ACTA2 PRNP GATA6 NKX2-5 MT-ND1 MLXIPL TGFBR1 BUD23 TLL1 CST3 LIMK1 CLDN3 DYRK1B RNF213 BAZ1B TP53 SMAD2 TNNI3 HSD11B2 MT-CO3 PRKG1 XYLT2 ERCC6 LRPPRC THPO ADAMTS13 CCM2 MAT2A NR3C1 GTF2IRD2 FLNA MT-CYB NR2F2 XYLT1 SMAD3 PMM2 FKBP6 GNAQ CLDN4 VPS37D PCNT CALR MMUT TMEM270 RFT1 PNP STIM1 HP_ENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENCEPHALOPATHY COQ2 SLC25A15 PIGA ZNHIT3 CACNA1A PTPN23 SYNGAP1 GRIN2A SLC25A22 MT-ND6 DPM1 MT-CO2 MEF2C MT-TV SYNJ1 GABRB2 CLPB PNPO SPTAN1 FCSK CDK19 SLC13A5 TBCE ADAM22 CACNA1B MT-TS2 CNPY3 NAXE FGF12 ARHGEF9 STXBP1 MDH2 COG8 SCN1A CNKSR2 LIAS GLS CARS2 CLTC COQ5 SIK1 SLC6A1 BCS1L LIPT2 NTRK2 TMEM70 GABRA2 TRAK1 CACNA1E ACADS GABBR2 NDUFAF3 SCN8A SLC19A3 SLC1A2 PIGP SUCLG1 RINT1 COX16 ALMS1 UGT1A1 MT-TW RANBP2 SCN2A DPM2 SLC22A5 FOXRED1 ATP1A3 EEF1A2 KCNB1 ACAD9 PCCA GRIN2D DNM1 NDUFV2 MT-ND1 NRXN1 TSEN54 RNASEH2B RNASEH2C NDUFB9 CLP1 KCNT2 UGDH MT-TC NEXMIF ATP6V1A ACTL6B PNPT1 NDUFS8 CHD2 GCDH UBA5 NEUROD2 SLC2A1 GABRB1 EIF2AK3 NDUFAF4 STAT2 FBXL4 BSCL2 DOCK7 MT-TF NDUFAF2 SLC25A1 DENND5A ASNS SERAC1 ETHE1 GLUL SLC35A1 MPC1 PCK1 PACS2 COQ9 ATAD1 SERPINI1 MT-TK CYFIP2 DPAGT1 RNF13 ST3GAL3 TBC1D24 HADH TSPOAP1 PARS2 TBCD WDR45 MT-ND2 NDUFAF5 AARS1 TSFM TWNK DNM1L SCN3A GABRG2 ATG7 DGUOK NUS1 MT-TS1 NECAP1 NDUFS3 DCX GNAO1 MDH1 NDUFS2 TIMM50 TCF4 WWOX SLC25A13 FRRS1L NDUFA1 NDUFS4 CPT1A STAG1 D2HGDH PPP3CA NUBPL TRAPPC12 ACOX1 ARX MT-TQ CUX2 DLD NDUFAF1 MECP2 GABRB3 PSAP PLCB1 SUCLA2 CYC1 HIBCH GABRA1 GRIN1 NAGS ATP5F1D FADD NDUFS7 KCNQ5 RYR1 MTHFR CLCN4 IBA57 NDUFS1 GLYCTK CPLX1 TBCK KCNA2 ATAD3A GPR35 DHDDS GBA COQ4 GCSH CDKL5 NDUFA6 GLDC TH ACY1 LYRM7 MAPK10 MT-TH CELF2 NDUFS6 NOTCH3 SLC6A9 KYNU NDUFA11 GUF1 HCN1 ROGDI PHACTR1 GALC SLC25A12 ITPA MT-ND5 MT-CO1 NADK2 ALDH4A1 AFF3 ARV1 SEMA4D NDUFB10 NDUFV1 FGF13 SZT2 GALT ALG9 BOLA3 TK2 SLC12A3 TGFB1 MT-ND4 HSD17B10 AP3B2 HNRNPU AMACR AMT COX15 MT-TL1 CLCNKB AP2M1 NAXD KMT2E SH2D1A UNC80 MMACHC PMPCB CAD GRIN2B HTRA1 NDUFB11 GABRA5 SCN1B SLC35A2 SMARCAL1 PAFAH1B1 SQOR CPT2 PRNP NBAS HMGCL NDUFAF8 CACNA2D2 MT-CO3 NDUFB3 MT-ND3 KCNT1 ATP5F1A YWHAG MST1 KCNQ2 TIMMDC1 PCCB MT-CYB TRIT1 FBLN1 NSF DALRD3 TUFM ACSF3 SLC25A20 XIAP CCDC88A TMEM126B TREX1 GPT2 HP_PARKINSONISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARKINSONISM PANK2 TBP GABRG2 MAPT GBA FUS TOMM40 SLC6A3 SCN2A RAB39B PDGFRB TK2 XPR1 FMR1 PPP2R2B KIF5A NOS3 COASY SNCAIP SCN1B UBTF CHCHD10 PDE10A POLG FBXO7 ATXN8OS SLC30A10 DCTN1 TMEM240 SLC18A2 SIGMAR1 GIGYF2 SPG11 GCH1 PRNP FTL UQCRC1 SCN1A ADH1C LRRK2 PLA2G6 CLN3 SLC39A14 AP5Z1 HFE ATP6AP2 SQSTM1 TAF1 PTS APP SORL1 PRKAR1B VCP TRPM7 MECP2 EIF4G1 ATXN3 STXBP1 DNAJC6 PRKN VPS35 ATP13A2 APOE COQ2 TSPOAP1 JAM2 PRKRA TARDBP WDR45 SYNJ1 VPS13A SNCB MYORG GRN ATP1A3 C9orf72 TWNK HTRA2 TH STUB1 NOTCH3 PINK1 PCBD1 C19orf12 PSAP ABCA7 SNCA NR4A2 AFG3L2 UCHL1 LYST CAT VPS13C ATXN2 PARK7 DNAJC5 ALS2 TBK1 PSEN2 DNAJC12 PSEN1 PCDH19 PDGFB GLUD2 MPO DNAJC13 TMEM106B TREM2 GABRA1 SCN9A JPH3 EIF2AK2 CHMP2B SLC20A2 CYP27A1 CP PLAU HP_TORSION_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TORSION_DYSTONIA TAF1 ADAR TOR1A THAP1 HPCA TUBB4A SLC2A1 PRRT2 HP_TONGUE_FASCICULATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TONGUE_FASCICULATIONS NDUFS4 AGTPBP1 CACNA1A FXR1 SCN1A VCP SLC52A2 SMN1 SLC25A21 KCNK9 SLC52A3 EXOSC3 ASAH1 SMN2 TBCD AIFM1 ADPRS NOP56 UBA1 ATP1A2 VWA1 SH3TC2 PRRT2 RMND1 CHCHD10 OPTN TSPYL1 HP_DYSMETRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSMETRIA MRE11 REPS1 NF1 GTF2I PDYN ATP6AP2 ADGRG1 GTF2IRD1 PLP1 SFXN4 ATP1A3 SPTBN2 TECPR2 POU4F1 RARS1 CAMTA1 GRID2 NOP56 ITPR1 MSTO1 ATXN10 HIBCH IFRD1 XRCC1 MARS2 VLDLR ATXN7 PRKCG LMNB1 PIK3R5 MYORG SPART WARS2 MAG AFG3L2 SHMT2 COQ5 METTL27 TBL2 PDGFRB ANO10 TTC19 CLN5 SLC25A46 TBP ACBD5 TMEM63A OPA1 TOP3A PNPLA8 NDUFAF2 FMR1 AP5Z1 POLR3A GPAA1 SYNE1 CACNA1G NCF1 FXN RFC2 CRAT ATXN2 PUM1 WASHC5 DNAJC30 LNPK CAPN1 NEU1 TGM6 BCL7B DAB1 SQSTM1 GTPBP2 POLG ATXN1 FA2H PRNP CCDC88C CWF19L1 NGLY1 PRICKLE1 PPP2R2B PITRM1 GBA2 CLIP2 ABHD11 SAMD9L PMPCA SCN8A ATG5 WDR81 PMPCB ELN TTPA SACS GRM1 KIF1C EIF4H PEX2 LAT2 RRM2B STX1A SRPX2 KIF1A TMEM106B DEGS1 ABCB7 PLD3 BUD23 POLR3B TCTN2 TPP1 SPG7 LIMK1 STUB1 CLDN3 AASS GJB1 BAZ1B ABHD12 ACOX2 VWA3B COA7 CACNA2D2 B4GALNT1 SLC9A1 TIMMDC1 SLC7A6OS EBF3 PLA2G6 PI4KA ADPRS XRCC4 YME1L1 CYP7B1 KCNC3 RFC1 PTRH2 ERMARD ATN1 GTF2IRD2 ABCD1 RNASEH1 PEX16 GJC2 PDGFB IRF2BPL BRAT1 FKBP6 MTTP CLDN4 NFASC UCHL1 VPS37D MLXIPL CTDP1 TMEM270 SLC20A2 CAV1 LAGE3 HP_ABNORMAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY PSEN1 SLC25A15 NF1 SATB1 PIGA CCDC47 CACNA1A SLC18A3 GRN MT-ND6 ALG13 NSUN2 EGR2 NEFL GRIK2 AIMP1 CCT5 NDP SRPX2 GRIN2A NTRK1 GABRB2 PMP22 DOLK WASHC4 SH3TC2 MPZ SPTAN1 KCNMA1 CTNNA2 ERCC8 ABCC8 NBEA CDK19 SLC13A5 IER3IP1 UBE4A AIMP2 SPEN MT-TS2 ATXN10 PEX3 MAP1B SCN8A GABRG2 ZEB2 NEXMIF DIAPH3 CEP126 FGF12 PEX12 SPTLC2 MYO9A SCN2A CNKSR2 CTNND2 CARS2 KCNA1 SLC6A1 BCS1L VCP MAP2K2 LIPT2 NTRK2 HMGCL SNRPN NGLY1 TRAK1 ARHGEF10 KIF1B PRKCZ CDKL5 ERMARD TREM2 PEX6 SLC1A2 PIGP CACNB4 PRRT2 LARS2 ALDH5A1 DOCK7 CABP4 AFG3L2 SIK1 PLEKHG5 EEF1A2 KCNB1 TRAF3 ERCC4 TMEM106B GRIN2D AP2M1 SLC25A10 B3GALNT2 PEX19 MT-TW KCNT2 UGDH SETBP1 FBN1 SORD ATP6V1A SLC25A1 KCNJ11 GDAP1 GJB1 SCN1A IQSEC2 UBA5 CEP85L AIFM1 NEUROD2 RRM2B YWHAG ST3GAL3 DMXL2 DNM1 ARX SNAP29 NTNG2 PLP1 SYN2 UBE3A MYH14 ALG2 PLA2G6 SLC9A6 POMT1 CYP27A1 PRNP PGAP2 TLR3 EFHC1 AARS1 CHAT ANTXR1 SACS SLC2A1 GALC KCNQ3 PCK1 CYFIP2 CSTB LYST CHI3L1 CILK1 UNC93B1 IDUA HNMT AP1S2 SCN3A DEPDC5 PNPO RAI1 CHD2 DHX16 PSAP NHLRC1 CPLANE1 TFG ABCA5 SLC39A8 GNAO1 SPTBN4 SLC12A6 GJC2 TIMM50 SLC12A2 STXBP1 HSPG2 DLL4 WWOX MAP2K1 FKTN NUP133 PHF6 MECP2 MT-TF PPP3CA HK1 MARCHF6 NOTCH1 DRD3 RTN4R CLN8 KCNH1 BSCL2 FGF13 NCDN SCN9A EXOC8 SLC6A19 PLCB1 CRADD PDPN CPA6 NMNAT1 RPL10 TRAPPC11 IREB2 MYD88 HIBCH SLC25A46 AHDC1 PIGL FLVCR1 TRPV4 DEAF1 SYNJ1 GABBR2 KCNT1 PHACTR1 PEX26 EIF2S3 GRM7 TBC1D24 PIGQ APC2 STX1B FBXO38 ADGRV1 GLYCTK GNB1 COMT HPDL DHDDS GABRD ZC3H14 MGAT2 MED23 PRPS1 NDRG1 LAMA2 MADD CELF2 NALCN PRX AARS2 CUL4B CHRNA2 PEX14 CLIP1 HECW2 FOXG1 KCTD7 HCN1 ROGDI METTL23 ERCC3 TPI1 CUL3 PEX5 PRSS12 ACTL6B DCAF8 GABRB3 MT-CO1 IGHMBP2 P4HTM PIGS XPA HSPB8 LUZP1 RTTN DPYD ARV1 KCNQ2 GABRA1 UPB1 REEP1 PIGW XPC LAGE3 SAMD12 TUBB2A KCNA2 SZT2 DDB2 FOXP1 GLUD1 TET3 RSRC1 NOTCH2NLC NPRL2 ATP1A2 MFSD8 ALDH7A1 TGFB1 JRK SLC25A22 FAM126A MAN1B1 PEX1 MT-TL1 AP3D1 EBP COQ2 RMRP EPM2A OPA1 ABCD1 EDC3 SNAP25 TICAM1 MYH3 PIGT LETM1 UQCRC1 RELN ACOX1 NLGN3 NTNG1 PHGDH SYT1 NLRP3 ADGRG1 MT-CO2 MATR3 CTDP1 PEX2 GABRA5 CREBBP APOL4 PAFAH1B1 SLC35A2 CACNA1B SUCLA2 CHMP2B ARSA SMC1A AKT3 FRRS1L ANKRD17 POMT2 GRIN2B CNTN2 ERCC6 JPH1 PIGY WDR73 SBF1 CLTCL1 MT-CO3 KDM5B PDE2A APOL2 ATXN1 PI4KA MAF MBOAT7 SYNGAP1 KIF1A LAMC3 CHCHD10 STUB1 CLTRN RETREG1 DOCK6 NUS1 LGI1 AP3B2 STRADA SCN1B CCDC88A NEMF MPV17 YEATS2 CNTNAP2 ZNHIT3 IARS2 GNB2 ITGB6 KRAS PTPN23 TBC1D2B MED25 LITAF PDK3 PDHA1 PTS MAPT PEX10 MMP23B C9orf72 SARS1 EDNRB SPTBN1 NPRL3 MFF CNPY3 UFSP2 NDST1 ASL ARHGEF9 NUP188 PRODH CLTC OTOF TRAPPC9 TRAPPC12 EP300 CLN5 GABRA2 WDR4 ARG1 CACNA1E CRBN RERE PEX16 SMS CASK GARS1 PNKP COX16 CACNA1H SPATA5 UNC80 AHSG COL13A1 FGFRL1 DPM2 WDR45 CPLX1 PLPBP DPM1 SCARB2 UBTF OSGEP SYT2 SUMF1 TPP1 TYMP TP53RK FBLN5 PNPT1 OCRL HIC1 SIGMAR1 CLCN6 LTBP3 LRSAM1 GABRB1 PURA MTHFR TRIM8 PSAT1 ERCC5 PGAP1 SAMD9L GPAA1 FGD4 CRH DENND5A ASNS LINS1 KMT2D OCA2 NUP107 RAB7A ATAD1 BRAF DPAGT1 UBE4B PARS2 RUSC2 MFN2 KANSL1 FKRP ARFGEF2 AASS DCX PPT1 MDH1 GNB5 SQSTM1 TBCK CLN6 SLC45A1 PIK3CA GFM2 LSS ERCC1 KDM6A TBC1D20 MT-TQ NFASC CUX2 SPTLC1 ATP10A STARD7 NECTIN1 SPG21 CC2D1A SLC5A7 TBK1 CHRNB2 GAD1 CHRNA4 NDUFA9 MT-TS1 RBPJ EOGT MTMR2 C12orf4 DHH FLII FARS2 PIGG NSD2 PIGV ALG14 POMGNT1 NACC1 ADARB1 LMNB1 VPS13A TPRKB NECAP1 TECR DYNC1H1 CPT1C MAPK10 MT-TH ATP6V1B2 PDSS2 NLGN4X IQSEC1 LMAN2L PEX11B GUF1 DAOA MORC2 RNF13 SETD1B PRICKLE1 MTRFR VAMP2 SOX10 SBF2 YWHAE ATL3 HRAS ALDH4A1 DCPS MED13L SETX PLAA FXN LONP1 ERCC2 DNM2 NDUFAF8 GMPPB NRAS TTC5 FBXO31 FLCN MT-ND4 POGZ PGAP3 EZR FIG4 PEX13 SLC44A1 LARGE1 SEMA6B CTBP1 HNRNPU MED17 TYROBP HTR2A MCOLN1 HCFC1 SNIP1 TIMM8A DAG1 DHPS POLG FMN2 ALG3 HSPB1 KCNAB2 ADRA2B AGRN ALKBH8 DEGS1 WNK1 TUBGCP2 MT-ND1 TNIK MT-ND5 KPTN ALG11 ANKRD11 SKI ABHD12 ARHGAP31 HSD17B4 FDXR ST3GAL5 PIGC CLCN4 PIGO ATL1 LRPPRC CASZ1 VAMP1 PRDM16 PTRH2 CLCN2 PAX6 LMNA NEU1 MOGS SLC1A4 PCDH19 TRIT1 GRIN1 NSF DALRD3 COX4I1 TUSC3 EMC1 EPG5 HP_GIANT_SOMATOSENSORY_EVOKED_POTENTIALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GIANT_SOMATOSENSORY_EVOKED_POTENTIALS STARD7 SAMD12 NHLRC1 SEMA6B MARCHF6 EPM2A HP_REDUCED_TENDON_REFLEXES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_TENDON_REFLEXES ERCC2 MME LARGE1 KIAA0586 CACNA1A PDHB FLI1 SLC18A3 TPM3 GAA EGR2 GJB6 NEFL LDB3 ABHD5 GNAS DNAJC6 HARS1 RTEL1 PMP22 MPZ PAX7 ERCC8 PPP2R5D SLC25A19 TERT CDK19 SLC13A5 FXR1 PRPS1 DAG1 MSTO1 VCP ATXN10 PEX3 STX16 CHCHD10 IFRD1 MT-ND1 GJB2 DES PEX12 ZSWIM6 TSHB TRPV4 MYO9A MDH2 POLG2 TECPR2 POU1F1 MT-ND4 CNKSR2 SPG11 GABRB2 DOK7 TDP1 NTRK2 TWNK SLC25A46 MT-ND2 NGLY1 HACD1 TRAK1 SCN9A KIF1B CHRNE SLC1A2 ALDH18A1 PEX5 KBTBD13 POLG FUS ALDH5A1 SLC5A7 DYSF MYOT PLEKHG5 ATP1A3 TFG WARS1 HSPB1 ERCC4 ELOVL4 MT-TL1 PPOX HNRNPK CNTN1 PEX19 RRM2B UGDH ATP6V1A TPI1 SLC25A1 MTM1 FHL1 RFC1 TBK1 GDAP1 GJB1 ATM B4GAT1 UBA5 AIFM1 SPEG DNM1 NEB SNAP29 PPP1R21 IYD SCYL2 ACER3 PIGB TK2 MT-ND5 MYH14 SELENON PLA2G6 GNE MPLKIP HSD17B4 DNM2 PGAP2 WDR81 AARS1 TRMT5 CHAT CHRND GBA SACS COL4A1 PEX2 SUCLG1 LPIN1 CRPPA JAG1 PDXK CYFIP2 FUZ LYST CNTNAP1 CHRNA1 PARN MT-TK DNM1L GMPPB TPM2 GRIN2A TARS1 SCN3A VANGL1 COX8A RAI1 FBN1 OPA1 DHX16 PSAP PSMB8 B4GALNT1 TCAP EEF1A2 PMM2 SPTBN4 SLC12A6 DNAJB2 STXBP1 TBCD MYPN WWOX PEX11B LAMA2 PLEKHG4 C9orf72 SLC25A4 POMGNT1 FLNC FKBP10 CFL2 NARS1 EXTL3 QRICH1 HK1 PIK3R5 ARHGEF2 GLE1 GRIN2D PPP3CA MTTP TRMU AR TRIM2 TPO LAMB2 RXYLT1 STIM1 SUCLA2 ADCY6 NDUFS4 SIM1 SAR1B POMT2 PIGL PRNP FLVCR1 RNF170 DEAF1 ACD PEX1 KCNJ18 MT-TE PEX26 EMC1 NAGLU GAN MYL2 FBXO38 VAMP1 HADHA MT-TT LHX4 TBCK ACTA1 HNRNPDL GOSR2 TARDBP GCSH MAG RNF113A FASTKD2 MYF6 LMOD3 CELF2 ERLIN1 PRX SH3TC2 HCN1 ZC4H2 C19orf12 DCAF8 SCYL1 IGHMBP2 DPM3 TUBA8 DUOX2 SYNE1 PLOD1 ALG6 ERCC6 IBA57 MT-TW ERCC3 HESX1 XPA HSPB8 PITX3 PLEC HSPB3 MUSK SYNE2 FKRP MTMR14 DPYD SQSTM1 LRP4 ARV1 ALG1 ELP1 TTN KIF1A PIGW XPC ATXN2 TAF1 FGF13 MTRFR KCNA2 SMN1 SZT2 DDB2 GBE1 PEX10 PNKP NOTCH2NLC XK PGM3 HADHB COG7 TRIM37 MARS1 FMR1 KCNB1 GARS1 RMRP DKC1 BSND SNAP25 DARS2 ORAI1 FDX2 MYH7 DST SETX GABRA5 KY MFN2 PEX7 MTPAP CACNA1B MT-ATP8 ARSA CHRNB1 ACO2 PNPLA2 IQSEC2 MGME1 JPH1 SURF1 SBF1 DHDDS COA7 SCN8A KLC2 TBC1D23 VPS33A ATXN1 YWHAG BIN1 SYNGAP1 FGF12 VWA1 MT-ND6 RNASEH1 HSPG2 STAC3 DYNC1H1 POMT1 GFPT1 RETREG1 ERBB3 DNAJC3 NUS1 PODXL AP3B2 MAP3K20 FKTN TRIP4 RMND1 SNX14 ATL3 CLCNKA GFER MRE11 EXOSC1 MPV17 PEX6 MYL1 CNTNAP2 IARS2 PDK3 COL12A1 MED25 LITAF TTR KRAS SYNJ1 GEMIN4 COL13A1 RUBCN ATP6AP2 COX6A1 RYR1 SCN4A OCRL DMD ERCC1 CLTC GIPC1 CPT1A MEGF10 GABRA3 GABRA2 ABCA1 ATP1A2 PEX16 PYROXD1 ERGIC1 LHX3 PIGN POMGNT2 BEAN1 ACADM MORC2 CARS2 SYT2 HDAC4 VPS13A NARS2 ACTL6B FBLN5 PNPT1 KLHL41 APOB OPA3 GTF2H5 SIGMAR1 SEPTIN9 ITGA7 LRSAM1 COLQ DNMT1 SIL1 SLC5A5 MYO1H ERCC5 TSHR DBH FGD4 PMPCA TMEM240 TTPA LMNA ASCC1 GRIA3 SLC35A1 RAB7A SMPD1 ATXN3 DPAGT1 PARS2 ADSS1 RAPSN UBA1 LGI4 TBC1D24 B3GALNT2 TSPYL1 KCND3 SCO2 CRYAB GTF2E2 VAPB ACOX1 SLC1A3 SLC52A2 PEX14 PRKCG BAG3 GNB4 KCNK9 NFASC PNPLA6 POMK SPTLC1 REEP1 SMN2 TINF2 INPP5K AGRN PDSS1 NDUFA9 EXOSC9 ASAH1 DKK1 DHH FLII ATP1A1 PIGG PIGV MT-ND3 BICD2 DNASE1L3 GABRG2 XRCC1 TMEM43 INF2 PIGY CDK5 NECAP1 DOCK3 GLDC MCM3AP PIEZO2 ATP6V1B2 LIFR CLCNKB PROP1 SLC25A21 GALC SHANK3 NDUFA1 KLHL9 TRAPPC11 SOX10 MAGEL2 SBF2 KARS1 HRAS ALDH4A1 ARL6IP1 TYMP CACNA1S FXN APTX NRAS HINT1 PTF1A ALG2 PGAP3 FIG4 AK9 NDRG1 AMT ALG14 ARSI SNIP1 MT-ATP6 CD59 PHYH ENTPD1 PLP1 TG FLRT1 TRIM32 WNK1 NEFH ABHD12 HMGCL ST3GAL5 AMPD1 PIGO COASY SNRPN DUOXA2 OTOG PEX13 ATN1 ATP7A PTRH2 MT-TV DALRD3 DGUOK ACAT1 GEMIN5 EMD LRP12 HP_NEONATAL_HYPOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_HYPOTONIA SIM1 HERC2 B3GALT6 BCS1L CFL2 SLC25A46 CHRNB1 COL12A1 KNSTRN GATAD2B PEX1 SLC25A22 EARS2 EGR2 AP4E1 MT-TE GABBR2 MUSK HNF1A STXBP1 CAMTA1 COA6 MTHFR RTL1 PPP2R5D POMT1 TIMM22 CASK IER3IP1 FXR1 ACOX1 GLYCTK TPM3 NKX6-2 RYR1 MT-TT KANSL1 CHRND ZNF469 DNAJC19 OCRL SUMF1 MRPS16 SLC16A2 COQ4 RAPSN EEF1A2 GLS NDN CHRNA1 CRPPA SHANK3 FKRP PEX16 MEGF10 PIEZO2 MADD LMOD3 CWC27 CHKB FIG4 FOXG1 USP7 CDKL5 PYROXD1 TMCO1 FLNA CCDC174 PLCB3 NADK2 ATP2B3 TUBA8 PLOD1 PDHX SOX10 MAGEL2 NFIX PCLO VAC14 UNC80 ADNP MED12 MAG AP4M1 BIN1 COL6A3 SPOP SLC6A8 PEX12 COG4 ERCC6L2 UPB1 TNNT1 SYNE1 VMA21 CNTN1 DLK1 ARID1B PEX10 SNRPN PEX3 FGFR1 PSMD12 ITGA7 LYRM4 SELENON TGFB3 HNF4A PURA ALG11 PDE4D GATA6 PGAP1 SH2B1 DMPK CHRNE SCN4A NSD1 POMK NTNG1 WAC SYT1 KLHL41 PEX2 FKTN SUCLG1 DST VPS13B DLAT COL6A2 PEX26 SON NONO ATXN7 GRIA4 UQCC2 TMEM260 HADH ACTA1 PAFAH1B1 TPM2 BPTF NEXMIF TSFM GOT2 POMT2 KAT6A SDHA NEB SNORD116-1 PIK3CD COL6A1 SMC1A PRDM5 SPTBN4 SLC12A6 AP4B1 ODC1 HSD17B4 RPL10 GNPTAB ARX PEX6 PRPS1 MYH7 NALCN TBCK LAMA2 H1-4 PWRN1 MEG3 TBC1D24 PTRH2 CLPB VPS53 MECP2 MKRN3 PDSS2 PWAR1 CPT2 TBR1 KCNK9 GABRA2 TAF6 NPAP1 PDP1 SPATA5 COPB1 TUFM EIF5A CCDC88A LARGE1 SNORD115-1 BRAF HP_CEREBELLAR_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBELLAR_HYPOPLASIA ATR LARGE1 SEPSECS MRE11 EXOSC1 KIAA0586 PIGA BUB1B SIX3 ERF PDHB ADGRG1 NDE1 INTS1 FGFR1 VPS51 RAB3GAP1 KRAS GJB6 MAN1B1 SASS6 RPE65 TCTN3 TMEM107 RERE RTEL1 MBTPS2 C2CD3 NUP37 CTNNA2 GPX4 TERT CEP41 ZIC2 RHOBTB2 IER3IP1 DAG1 CENPF TCTN1 MSTO1 MAST1 RPGRIP1L ZEB2 GJB2 ASPM VLDLR ARL13B ITPR1 TMEM237 TMEM67 INPP5E JAM3 GPC4 TUBB3 DYNC2H1 ZNF423 CBY1 ARL3 KATNIP OTUD5 PIGN FIG4 COG1 MKS1 NPHP1 SLC35A2 TUBB SHH DMXL2 BRF1 PLP1 PPP1CB VAC14 GPC3 POMGNT1 PSAT1 AHCY EHMT1 MAPK8IP3 RELN AFG3L2 FKRP POMGNT2 FOXC1 DPM2 CACNA1G NPHP3 ATP6V0A2 GMPPB ATXN2 B9D1 ASXL1 CEP120 SMARCC2 ZBTB11 FAR1 RARS2 MYOD1 TSEN2 TP53RK CARS2 KIF7 DPH1 TSEN54 DISP1 CEP55 ZIC1 ATP6V1A CEP104 FGF8 DISC1 CHD7 TXNDC15 EVC2 B4GAT1 ARID2 SPECC1L PPP1R21 SIL1 CWF19L1 BUB1 AHI1 TMEM138 GPHN LRRC32 DCHS1 COASY MACF1 CDC40 PGAP1 PLG DYNC1H1 TCTN2 WDR35 GPAA1 PMPCA POMT2 WDR81 KIAA1109 SLC25A1 POMK EOMES ARID1B DENND5A ASNS CSF1R COL4A1 B3GALNT2 RAB18 PACS1 SACS VPS13B GLI3 TSEN34 SRPX2 NONO B9D2 CRPPA NEK1 CDKN1C DPAGT1 HERC1 PPP2R1A TINF2 DHCR7 PARN SETD2 MAP2K2 CASK STIL CCDC22 CEP290 GOT2 PI4KA ATG7 HHAT PIBF1 EVC VRK1 GLI2 PIEZO2 HNRNPH2 ATN1 PMM2 TBC1D24 CC2D2A TMEM216 MDH1 POMT1 NRAS B4GALT1 PIGU MICOS13 RPL10 PHGDH KCNQ1 ELN SMG9 CPLANE1 YME1L1 CAMTA1 SMARCA4 FKTN DPYSL5 TUBGCP6 RBM10 GFM2 ERMARD USP9X MAB21L1 ATP6V1E1 SUFU RAPSN ERCC1 CSPP1 WAC ZNF292 TSEN15 USP18 KIDINS220 TOE1 INTS8 KIAA0753 ARMC9 INPP5K LAMA1 WASHC5 RXYLT1 SMARCB1 MPL SOX11 KMT2C RORA SMPD4 WDR73 BUB3 SLC25A46 FLVCR2 LAMB1 TMEM231 POLR3A EBP STAT2 ACD SLC25A24 OFD1 FANCB CCDC32 RAB3GAP2 NUP88 OCLN HYLS1 PIGG TRMT10A KCNQ1OT1 RTTN APC2 DYNC2I1 BCOR L1CAM PTF1A STAG2 BMP4 TBCK IFT80 ATAD3A FGFR2 RAC1 TBC1D20 TERC DYNC2I2 COQ4 WARS2 CDK5 NDUFA6 DPF2 FTO TMCO1 NFIX CIT SEMA3E MGME1 KIF14 TRAPPC9 ATP6V1B2 MUSK FLNA WDR26 CDC42 CHMP1A ROGDI GRIA3 TWIST1 ABAT VPS4A EPG5 FRMD4A SON MFSD2A ATP2B3 DOCK6 PCLO PPP1R15B PDE6D GPSM2 TOGARAM1 HRAS SRD5A3 HDAC6 WNT1 ATCAY AFF3 SLC25A19 PTEN FAM149B1 IGF2 TAF1 POLA1 SMARCD1 ALG3 TKFC RBM8A OPHN1 ARID1A STUB1 RAB11B SOX4 MARS2 SEMA6B DHX37 NODAL SLC18A3 PAFAH1B1 MYO5A ROBO3 ARSI EXOSC8 AP1S2 NID1 DKC1 PCGF2 ATG5 CPT2 DOK7 NSD1 SMARCE1 RPGRIP1 COL3A1 THOC2 NCAPG2 MINPP1 IFT172 ASXL3 MLXIPL EXOC2 RBBP8 ALG6 TRRAP FDXR SLC1A3 PIGT ALX4 EBF3 CENPE ATP5F1A CEP57 TUBA1A EXOC7 PTRH2 TAPT1 ALG12 BICD2 PPIL1 VPS35L THG1L ERCC6 GRM1 TRIP13 PRKDC DHFR OXR1 TUBB2B CEP164 RNF113A SNX14 FAT4 HP_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_WEAKNESS FOXE1 COL1A1 PPARGC1A DCTN1 SELENON CACNA1A FLI1 SEMA3A TPM3 PTPN22 EGR2 NEFL PNPLA6 ABHD5 NDP MT-TK TP53 OPA1 SH3TC2 LIPE MPZ SLC25A19 ANKH FXR1 SPG11 CBL MT-TS2 ITGB4 YARS1 MT-ND1 KIF5A SOS2 PIK3CA TBK1 LMOD3 FGF8 MT-ND4 EYA1 ABCC8 MYH7 BCOR KCNA1 BCS1L SOS1 GABRB2 DOK7 ATL1 TNPO3 NTRK2 TWNK PLEC MT-ND2 CLCF1 NGLY1 HACD1 TRAK1 NRAS MAPT KCNJ2 DYSF CYP27B1 SYP CCDC174 KBTBD13 DLG3 PLP1 GMPPB MIEF2 RANBP2 AHCY UQCRFS1 MYOT HSPD1 AFG3L2 PLEKHG5 UBQLN2 NDUFA10 ACAD9 MT-TE WASHC5 RARS2 PPOX HNRNPK PMP22 RRM2B PROK2 BVES SORD TPI1 CLCNKA DNAJC19 B4GAT1 UBA5 CNKSR2 MT-TF DMXL2 DNM1 BICRA NEFH SNAP29 SLC25A20 ORAI1 SGCB TK2 NEU1 PLA2G6 TRH DMPK FKRP CAPN1 AARS1 TRMT5 SACS CHP1 RPS6KA3 ANO5 SIX1 COL4A1 SETX TREM2 SUCLG1 NEB PFN1 SRPX2 KIF1A CRPPA CYFIP2 NUP62 HNRNPA1 SLC34A3 LYST MYPN CHRNA1 GRIN2A PDE8B SCN3A CHRND DHX16 PSAP GLI2 B4GALNT1 SMN1 TCAP PTDSS1 SPTBN4 SYNE2 PON2 COL6A1 TBCD EXOSC3 PHKA1 LARGE1 WWOX CDC73 CLCN7 C9orf72 DISP1 SLC25A4 SDHB CASK ERBB4 USP9X D2HGDH CFL2 PRKAR1A SPTA1 FHL1 YARS2 KY PPP3CA MTTP BSCL2 PET100 TRIM2 LIMS2 COX6B1 CAV1 TIMM50 SCN4A RXYLT1 EXOC8 LRP5 HK1 ADCY6 TRAPPC11 FUS RIT1 HS6ST1 RNASEH1 PRNP ATP1A3 RTN2 SLC25A24 PYGM KCNJ18 PHKB COA8 RYR1 SIGMAR1 MME DNAJB6 GAN IDS MYL2 AKT1 STAT4 ZNF81 NDUFS1 ZIC2 HADHA BAP1 CLCN1 FLVCR1 HNRNPDL TARDBP RARA PAK3 POMT2 GM2A PRPS1 NDRG1 ACY1 SOX10 LAMA2 LDB3 PRX REEP1 TTC19 CHKB TOR1AIP1 HCN1 ZC4H2 CYP11B1 FLAD1 DCAF8 NAGA SCYL1 MT-CO1 IGHMBP2 NACC1 TPM2 PLOD1 HSPB8 ABCB6 TFAP2A HSPB3 COL6A3 TRAF7 MTMR14 SQSTM1 CHRNB1 TTN AAAS VCP ATP13A2 FGF13 MTRFR KCNA2 FBN1 NOTCH2NLC BOLA3 XK ATP1A2 NUMA1 ITGA7 ACTA1 HADHB FAM126A FGFR1 MARS1 CLCNKB COL12A1 KCNB1 ARHGEF6 SCNN1A AP3D1 COG8 POLG GJC2 COX10 SNAP25 IFIH1 PAX8 ADGRG1 DDHD2 FKTN ABCA2 VDR CHRNE SLC35A2 CACNA1B SCO2 ARSA PREPL BTNL2 CPT2 SDHA STIM1 KCNJ11 SPP1 NIPA1 OPTN MGME1 TMEM43 MICU1 DHDDS FXYD2 NDNF HLA-DRB1 TGM6 MT-ND3 DPM3 CASQ1 NDUFS6 IL1RAPL1 TRDN UNC45B SNX10 SYNGAP1 LZTR1 FGF12 ALS2 VWA1 RALGAPA1 AP2S1 MT-ND6 SOST HSPG2 STAC3 SKI SGCA GFPT1 POU3F4 NUS1 ACTN2 NDUFB8 MAP3K20 PRKACA SZT2 TRIP4 STAT3 TBCE ATXN3 SLC4A1 MPV17 SGCD L1CAM MED25 LITAF GJA1 ADAR TTR GALC PTS CAPN3 SYNJ1 COL13A1 HFE P4HA2 FRMPD4 PTCHD1 ALDH18A1 ZFYVE27 CACNA1S CLTC SFRP4 GYG1 GABRA3 GABRA2 HLA-B TACR3 CCDC141 GABBR2 PYROXD1 MT-TL1 TOP3A PNPLA8 ERGIC1 GARS1 ACADVL NF1 PIGN ZFYVE26 FOXRED1 CACNA1G PABPN1 PDCD1 CLP1 SYNE1 SYT2 ERLIN2 PEX2 C19orf12 VPS13A NARS2 ACTL6B FBLN5 CHD7 PNPT1 DMD PEX5 LRSAM1 ATXN1 SHH SLC34A1 COLQ EIF2AK3 PNPLA2 DNA2 GBA2 RAB39B EGF CHAT ASCC1 ATP7A ALG13 PNKP MECP2 TRPM7 FGF23 TCN2 COL6A2 ADSS1 RAPSN DAG1 SGCG TUBB6 SMCHD1 MFN2 SMO COQ7 ETFDH LGI4 GJB1 DPAGT1 IQSEC2 POMT1 NDUFS2 SLC18A3 TCIRG1 MATR3 SCNN1G TSHR EHHADH PLAA YME1L1 PON3 LMNA ZFTA ACOX1 SLC52A2 PEX16 SIX5 PMPCA CCDC78 BAG3 KCNK9 FEZF1 SMN2 KCNJ5 POMGNT1 NOP56 ERCC6 SPTLC1 SLC5A7 SPRY4 STXBP1 PRPH CCNF MT-TS1 SPTB CLCN2 MTMR2 ASAH1 DKK1 POMGNT2 MYBPC1 CHCHD10 CNNM2 NDUFS7 DYM GIPC1 ASPA LRP4 ATP1A1 MTHFR TRMT10A AP5Z1 GCK POMK SCNN1B EPB42 PEX26 BICD2 UBAP1 GABRG2 XRCC1 LMNB1 NKX2-5 SPART INF2 ETFA XYLT2 SHMT2 CPT1C MT-TH SCN1A DUSP6 COL9A3 ANK1 FGF17 MYMK AMER1 VAPB TBL1XR1 PCLO PPP1R15B ALAD SMARCB1 DSE UFC1 NONO PEX6 APTX NDUFA6 NDUFB10 VMA21 GATM GPI PTEN SUFU COQ8A SALL4 FIG4 HSD17B10 ABCD1 AP3B2 MORC2 PEX19 AK9 SEMA3E BIN1 ALG2 EXOSC8 AIFM1 SPR PMPCB AGRN TIA1 PEX1 CD59 HSPB1 PHYH NBN IBA57 MINPP1 TRIM32 MSTO1 NF2 IL12B CAVIN1 SARS1 KLHL41 TSPAN7 NPM1 UBA1 MYH2 SLC52A3 ALAS2 ARX TMEM126B VAMP1 CYP11B2 SLC33A1 HAMP EPHA4 SURF1 DAO RASA2 HTT DDHD1 HCFC1 MT-TV DGUOK NDUFB3 EMD SARDH A2ML1 TAF15 GNE GAA AGK TGFB1 MAP2K2 HEXA MUSK SVIL ANOS1 HARS1 PAX7 HLA-DQB1 MYO9A TNXB CDK19 SLC13A5 HINT1 IFRD1 CEP126 DES SPTLC2 TRPV4 MDH2 POLG2 CAV3 PLXND1 ANXA11 TDP1 SLC25A46 PHKG2 KIF1B CDKL5 NDUFAF3 SLC1A2 PIGP PFKM ADA2 PEX3 CPOX NDUFA8 MTAP SIK1 AMPD3 SLC7A7 TFG CHST14 CNTN1 RRAS2 MT-TW DSTYK ATP6V1A FKBP14 SLC25A1 MTM1 NDUFS8 GDAP1 PML ACSL4 ZNF711 SPEG MID2 UBE3B NTNG2 MT-ND5 MYH14 DNM2 SIL1 YY1 LPIN1 UNC13A FLRT3 USP27X INPP5K RRAS CASR CNTNAP1 ATG7 VRK1 CPLANE1 PSMB8 MED12 SLC39A8 EEF1A2 SLC12A6 DNAJB2 AMPD1 ACADS CCN2 POLR3GL CCND1 PEX11B ADPRS TMEM165 NDUFS4 RFC1 ETFB NKX2-1 PEX12 FLNC EXTL3 NDUFS3 SOD1 CLCN4 GLE1 ANG GRIN2D COL1A2 TUBB3 TRMU SPAST AR FAM111B KLHL40 MRPL12 ELP2 MT-TI LAMB2 SUCLA2 IREB2 KCNJ1 POLR3A MT-TP MT-ATP6 RAF1 MEN1 ZNF41 PIGQ SCN11A HEXB FBXO38 HOXB1 FOXC2 PIK3R5 CYP2R1 FTSJ1 ERCC8 MYF6 SIX3 CELF2 RBCK1 AARS2 INPP5E ACBD5 SLC34A2 PHACTR1 HMBS NFU1 BMS1 GSN ATP7B ARV1 TNNT1 PNKD NDUFV1 GBE1 TNFRSF11B LAMP2 NEK1 PEX13 NDUFAF1 SLC25A22 VPS13D FMR1 SCN2A MYH3 DARS2 NEUROD2 SLC26A4 OAT PCNA DCC FDX2 SEPTIN9 MT-CO2 MT-TN GABRA5 DLL4 PEX7 LTBP4 COL5A1 CCR6 WARS2 JPH1 SBF1 NDUFAF8 STEEP1 COA7 MT-CO3 SCN8A GNAO1 MRAS PI4KA WDR11 YWHAG GLT8D1 ALDOA DYNC1H1 ARMC5 KCNE3 DHFR SLC22A5 SPG7 TREX1 COQ2 MYL1 SLC12A1 GNA11 PDK3 NDUFAF6 CHMP2B SLC18A2 FAR1 GEMIN4 SLC9A7 FIP1L1 COX6A1 MFF AGL ISCU MEGF10 VHL PDGFB ABCA1 CYP7B1 RELA FARS2 DPM2 SLC25A26 ELOVL5 ACADM PUF60 PUS1 NDUFB9 TYMP HESX1 COL5A2 BRCC3 PTPN11 TRIM8 NDUFAF4 GPHN COX20 PHKA2 FGD4 SDHAF1 NDUFAF2 GDI1 NDUFV2 TTPA BSND IRF5 GRIA3 RAB7A COL9A2 SMPD1 ZBTB16 IRAK1 NOD2 PARS2 NDUFAF5 STIL TSFM B3GALNT2 MICOS13 GNB5 CCN6 CRYAB TBCK NDUFA1 UPF3B STAT5B SLC2A3 GFM2 MRPS25 NUBPL PMM2 MT-TQ NDUFA13 PGK1 SPG21 REV3L PRRT2 BTD SDHD EXOSC9 KRAS ATP5F1D DHH CFAP410 RARS1 GCH1 NUTM2B-AS1 PROKR2 SCN1B POPDC3 NABP1 AGTR2 SLC39A14 KCNJ10 RASA1 NECAP1 LBR MCM3AP MLX PIEZO2 LYRM7 PEX10 SLC25A21 TMEM63A FRG1 PON1 KLHL9 PIGF SLC12A3 TOE1 SBF2 KARS1 ATL3 POGLUT1 FXN PEX14 SLC19A3 GTPBP2 IRF2BP2 GNAS MT-TL2 SLC5A6 LEMD2 RAI1 ALG14 CNBP FUZ COX6A2 IL17RD ATXN2 NDUFB11 NDUFA11 ATXN7 TANGO2 HJV SMARCAL1 PAFAH1B1 SMARCE1 PGM1 HNRNPA2B1 TERT PDE11A SLC16A2 LRPPRC EBF3 FA2H COL9A1 PTRH2 TIMMDC1 SPARC CRLF1 DALRD3 COX4I1 LRP12 HP_HYPOGLYCEMIC_COMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOGLYCEMIC_COMA ETFDH HMGCL ABCC8 HNF1A ETFA MC2R MRAP AKT2 STAR ETFB KCNJ11 HADH INSR GLUD1 UCP2 NNT NFKB2 TXNRD2 GCK HP_EEG_WITH_IRREGULAR_GENERALIZED_SPIKE_AND_WAVE_COMPLEXES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_IRREGULAR_GENERALIZED_SPIKE_AND_WAVE_COMPLEXES STARD7 SAMD12 SLC2A1 NEXMIF SYNGAP1 TBC1D24 GRIN2A CHD2 AP2M1 SLC6A1 SRPX2 SCN1A GABRG2 HP_PHOTOSENSITIVE_MYOCLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHOTOSENSITIVE_MYOCLONIC_SEIZURE SCN1A GABRG2 SCN9A SCN1B STXBP1 GABRA1 PCDH19 SCN2A KCTD7 HP_SPECIFIC_LEARNING_DISABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPECIFIC_LEARNING_DISABILITY SARDH ATP7A PSEN1 COQ2 RAD51 SLC25A15 NF1 HMGA2 DIS3L2 HERC2 PTCH1 MT-ND6 ARL6 MYCN MAP2K2 TMEM106B APC SRPX2 GRIN2A MAPT C9orf72 NTRK1 SPG11 DLL1 TDGF1 FGF8 MBTPS2 SMAD4 VPS41 SH2B1 SPTBN1 TP63 DAG1 VCP MT-TS2 MAN2B1 MAP1B SIX3 TSC2 GABRG2 GDI1 FOXH1 NSD1 KCNJ2 GLI2 ZIC2 TSC1 NDN IGF2 BBS1 VEGFC CACNA1H ALMS1 ZFYVE26 CDT1 WDR1 POMT1 POMGNT2 CHMP2B TGIF1 GMNN SLC2A1 GRN MSX1 MT-TW FLT4 SNRPN SYN1 OPA3 DISP1 B4GAT1 RNF168 SEC24C UBE3B SIL1 SHH COMT RPS23 DVL1 JMJD1C DCC YY1AP1 DMPK CHSY1 ORC4 MAGEL2 PIGH NODAL COL4A1 SQSTM1 KIFBP PRKAR1B CDON CRPPA JAG1 SMARCA2 TINF2 SETD2 FGFR1 H19 BPTF TREM2 TWNK GJC2 HIRA SNORD116-1 PRKAR1A DNAJC21 TBX1 HNRNPA1 PTDSS1 B3GALNT2 TUBB4A LYST SIM1 ALDH18A1 ELN EHMT1 TCF4 SMPD1 AMER1 PWRN1 AUTS2 PRRT2 SLC2A3 POMGNT1 MKRN3 LEMD3 MT-TF PWAR1 EXTL3 JRK POMT2 PMPCA MT-TQ ARVCF TUBB3 SOX2 SRY COX7B RREB1 INPP5K FZD2 RXYLT1 KCNA1 CNKSR2 STIM1 FUS GAS1 MT-TS1 PNKP KIF11 FKRP NTN1 CHCHD10 SC5D IRF6 ASPA ESS2 SBDS SLC2A10 MTHFR POMK DNAAF4 ACTB LARGE1 DMD NDUFB11 WNT5A CCDC28B TERC ACTG1 TARDBP APC2 BLM DGCR8 MT-TH NOTCH3 VPS13D FARSB STAG2 MORC2 TMEM63A GRIA3 CDC6 GABRB3 MT-CO1 CACNA1A TBK1 KCNC3 PAPPA2 IFNG MED13L OCA2 DPYD ORC1 FOXP2 KCNJ5 GALT HINT1 GLUD1 PDE4D PRMT7 PSMD12 NECTIN1 HDAC8 ARX CYP27A1 MT-ND4 AFF2 SRP54 MT-TL1 SMC1A MYO5A RDH11 HCCS GCLC WAS CHRNA7 FANCF CKAP2L DGCR2 DARS2 PLA2G6 ADGRG1 MT-CO2 DNAL4 GNPTAB FKTN LTBP4 SPRED1 MT-ND1 MLXIPL LAS1L DGCR6 MT-ND5 HNRNPA2B1 SIX6 CDC45 MTOR MICU1 CLTCL1 MT-CO3 WIPF1 DVL3 SUGCT UFD1 TRIO PI4KA PIK3C2A FIBP SPART PRNP RNU4ATAC ABCD1 GP1BB ALDOA FMR1 THOC6 HAL PIEZO2 NPAP1 HTT GABRA1 TUBB2B TCTN3 ORC6 KLF13 SPG7 SNORD115-1 TERT KAT6B HP_ABSENT_SEPTUM_PELLUCIDUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_SEPTUM_PELLUCIDUM MAN1B1 CTBP1 PIGA FANCI ARNT2 POMT2 FKRP HCCS NSUN2 HYLS1 FGFR2 C12orf4 GRIK2 EDC3 PGAP1 HESX1 AIMP1 RSPO2 LETM1 MBTPS2 NSD2 WASHC4 LINS1 FMN2 SARS1 ROBO1 COL4A1 POMK GRM7 DAG1 UBE4A PROP1 LARGE1 FKTN MED25 KRAS CRPPA UFSP2 SOX2 NDUFB11 NDST1 ALKBH8 GPR161 COX7B ZC3H14 WDR11 PSAT1 FGFR1 HNMT TNIK TECR WNT3 MED23 EZH2 CSGALNACT1 TRAPPC9 STAG2 PROKR2 SSR4 KIF7 IQSEC1 LMAN2L PTDSS1 LHX4 MUSK CLIP1 B3GALNT2 PPP1R12A SLC12A2 KDM5B PIGC CRBN OTX2 METTL23 PHGDH GLI2 DHCR24 PRSS12 EHMT1 L1CAM MBOAT7 ST3GAL3 SLC45A1 POU1F1 CSPP1 POMGNT1 POMGNT2 DCPS FGFRL1 CPLX1 KIAA0586 FOXA2 PIEZO2 POMT1 NCDN CDON TTC5 SOX3 FBXO31 RSRC1 RXYLT1 TUSC3 CC2D1A CRADD NEMF FRRS1L B4GAT1 EZR DYNC1I2 HP_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSTONIA MECR CIZ1 DRD5 FLI1 VPS16 COL6A3 RNASEH2A NSUN2 ATXN3 MMADHC GRIK2 SLC9A6 AIMP1 GNAS SLC6A8 DNAJC6 DLL1 GABRB2 TDGF1 WASHC4 STN1 SLC39A14 NBEA RHOBTB2 KDM5B CACNA1B UBE4A NKX6-2 STX16 SIX3 MT-ND1 IFIH1 SAMHD1 MDH2 MT-ND4 FOXH1 KCNA1 FGF8 TUBB3 SPG11 TRPM3 SCN8A PDGFRB LIPT2 PINK1 MT-ND2 NGLY1 TBP MAPT ACADS GNAL GLI2 CDKL5 KCNMA1 SLC19A3 ALDH18A1 SUCLG1 SHH TMEM67 PDHX PRRT2 VPS41 TACO1 CABP4 NDUFA12 AFG3L2 MT-ATP6 SLC2A1 SIK1 ATP1A3 MAT1A CHMP2B CUX1 FA2H PCCA TGIF1 GCH1 TSEN2 B3GALNT2 RNASEH2B RNASEH2C UGDH TPI1 EIF2AK2 PTCH1 GCDH PLA2G6 DISP1 ATM CHN1 NAA10 CEP85L DMXL2 PLP1 ACER3 SLC6A3 MBD5 MT-ND5 PPP2R2B SUOX CDC40 FBXL4 FBXO7 ATXN8OS CDK10 EPB41L1 DEAF1 PET100 NODAL ZNF142 SERAC1 TANGO2 PANK2 SPR DRD2 NDUFS2 HPRT1 NDUFS3 GRIN2A COQ9 FTL VPS37A NUP62 TOR1A CASR MT-ND6 FGFR1 MT-TK TAOK1 WDR45 MT-CYB SYNJ1 POLR1B HNMT SYNGAP1 NDUFA13 HTT ATG7 PSAP B4GALNT1 SLC39A8 SLC18A2 LRRK2 UCHL1 COL6A1 GNAO1 SNCA SLC12A2 MED27 SLC30A9 TBCD SCN2A PNKD TXN2 MECP2 DCAF17 UBA5 PIK3R5 GLE1 POLR1C ATP13A2 AP4M1 ADCY5 PLEKHG2 NCDN DLD ARX DALRD3 NEK9 SLC20A2 CRADD ECHS1 TRPV4 SUCLA2 TUBB4A APOE TRAPPC11 IREB2 HIBCH PNKP EARS2 HPCA GABBR2 SLC30A10 NDUFS7 SIGMAR1 KCNT1 TBC1D24 ADAR PIGQ ADH1C CLTC EMC1 ATP1A2 ZIC2 TCOF1 FITM2 EIF4G1 KMT2B HPDL DHDDS MARS2 PRKCG QDPR ZC3H14 MYORG GM2A MED23 TH COQ2 CYP2U1 ALS2 CYB5R3 AUH CKAP2L GBA CHRNA2 TTC19 CLIP1 FOXG1 ZC4H2 METTL23 VPS4A PRSS12 C19orf12 NADK2 KCTD17 MT-TW MYF5 KCNC3 COL4A1 POLR3A SETD1B VAMP1 AGTPBP1 DNAJC13 UPB1 TAF1 NDUFAF4 CYB5A GALT NKX2-1 ARV1 RSRC1 ALG3 UBQLN2 PDHA1 SQSTM1 SLC25A22 AARS2 RAB11B SCN1A MAN1B1 VPS13D STAG2 SNCAIP AP3D1 MRPS34 EDC3 GJC2 NTNG1 NEUROD2 NDUFAF6 SYT1 BCAP31 UFM1 DLAT SETX CIC COL12A1 PRKN NDUFA10 CACNG2 PRKRA SCO2 PSEN1 NDUFV2 ARSA DEPDC5 FRRS1L SDHA WARS2 KIF1C KAT6A SALL4 GRIN2B NDUFV1 YY1 SURF1 MICU1 NDUFAF5 DCTN1 POLR3B TGM6 PDE2A HACE1 ALG9 ATXN1 VPS13C ATXN2 MBOAT7 NDUFA4 KCNQ2 MT-CO3 PCCB TCF4 PPIL1 PDGFB MED12L DOCK8 PODXL NDUFB8 ANO3 JPH3 TWIST1 ACSF3 TSEN54 MCOLN1 MMUT NDUFAF2 KARS1 DYNC1H1 NEMF FUS TREX1 SEPSECS MRE11 NDUFS1 B3GALT6 THAP1 DNM1L ATP7B GNA11 PTS AP4S1 SARS1 SH2B1 HIVEP2 ECM1 SPTBN1 GRM7 DHX30 UFSP2 NDST1 CDH15 MPV17 CSNK2B PIGP ZMYND11 TRAPPC9 TRAPPC12 SGCE GIGYF2 STXBP1 CACNA1E CRBN CARS1 CASK HSPG2 NPC1 TTBK2 PNPLA8 RNASET2 DNAJC12 FARS2 FGFR3 LIPT1 CACNA1G GLUD2 EPRS1 C9orf72 SYNE1 UBTF CARS2 NPC2 NDUFS8 VPS13A PNPT1 CWF19L1 POLR1D TRIM8 SLC25A42 YIF1B PURA CNTNAP1 COX20 BSCL2 PGAP1 TMEM240 CRH GRIA2 TTPA BRSK2 LINS1 CAMK2B TSEN34 CDON COX15 TSPOAP1 JAM2 KIRREL3 STIL TSFM ASH1L RAB11A TGFB2 AP4B1 EEF1A2 VCP KIF1A CACNA1A SLC45A1 SLC2A3 GFM2 GRIN1 MRPS25 VPS35 GSX2 IRF2BPL SLC1A3 FOXRED1 TSEN15 VAC14 STARD7 COPB1 CC2D1A CTC1 ACTA1 CAMK2A CHRNB2 GAD1 CHRNA4 WDR73 NDUFA9 MAFB C12orf4 PCDH12 OFD1 MTO1 RARS1 KCNQ5 COL6A2 MT-ND3 ACOX1 MT-ND4L MED25 SCN1B AP4E1 DNAJC19 SNORD118 SDHD POLR3K GAS1 NDUFA2 TECR FGFR2 MTFMT MYT1L IQSEC1 LMAN2L NHLRC2 AARS1 ACTB VAMP2 ST3GAL3 ALDH6A1 GAMT HTRA2 HK1 DCPS NDUFAF3 SPOP PLAA FXN LONP1 APTX UQCRQ HINT1 TTC5 FBXO31 PARK7 GTPBP2 CYP27A1 EZR SLC44A1 HSD17B10 SMC1A COLEC11 NAXD COASY TIMM8A PCGF2 CHAMP1 PMPCB CNP FMN2 COQ8A TMEM106B ALKBH8 DEGS1 TPK1 TNIK GLB1 SCP2 STUB1 CP PCBD1 PIGC MT-TL1 NR4A2 SLC16A2 LRPPRC CPLX1 ATN1 SET MOGS TRIT1 GDAP2 FBLN1 NDUFS4 SPATA5 MT-TV PPP3CA TUSC3 DDC HP_COMMUNICATING_HYDROCEPHALUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMMUNICATING_HYDROCEPHALUS HELLS P4HB SLC2A1 DNAI1 MAN2B1 GCDH PTEN MPDZ DNMT3B ZBTB24 CDCA7 FBN1 TRNT1 TRIM71 HERC1 SEC24D SKI HP_BIMANUAL_SYNKINESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIMANUAL_SYNKINESIA DNAL4 FGFR1 CCDC141 RAD51 DUSP6 TACR3 FLRT3 CEP152 HS6ST1 NDNF SEMA3A GDF6 SVBP DCC FGF17 NTN1 CREBBP FEZF1 WDR11 CDH2 PROK2 FGF8 CHD7 HESX1 ANOS1 EP300 IL17RD KNL1 SOX10 SPRY4 PROKR2 HP_MYOCLONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOCLONUS MRE11 PRDM8 YEATS2 TOMM40 SATB1 ZNHIT3 MECR CIZ1 CACNA1A GNA11 MT-ND6 ADAR PTS GNAS LMNB2 DNAJC6 SYNJ1 PRNP GABRB2 NOP56 CLPB PNPO VPS41 GLRA1 HIVEP2 CDK19 SLC13A5 TAF1 TXN2 KDM5B CACNA1B CERS1 MT-TS2 STXBP1 SCN8A STX16 CDH15 PIK3CA GPHN SCN2A CNKSR2 LIAS CTNND2 CLTC KCNA1 COQ5 SIK1 CSNK2B POLG PIGP ZMYND11 TRPM3 TRAPPC12 SGCE NTRK2 TWNK HMGCL ANO3 CLN5 NKX2-1 SLC25A46 SLC6A5 PDGFB NGLY1 GABRA2 TRAK1 ABCA7 TBP CACNA1E CDKL5 BAP1 TREM2 SMS CASK SLC1A2 SNCA SUCLG1 GLRB GABRG2 CACNB4 CACNA1H NAGA DOCK7 FARS2 AFG3L2 EFHC1 CHMP2B WDR45 ADCY5 CUX1 SCARB2 C9orf72 DNM1 AP2M1 SLC25A10 CARS2 PRRT2 TSEN54 RFT1 MT-TW TPP1 KCNQ3 ATP6V1A ACTL6B EIF2AK2 DAB1 CHD2 DLL1 PSEN1 TOR1A ATM UBA5 CSTB SLC2A1 ST3GAL3 MT-TF DMXL2 PURA ARX MBD5 TRIM8 NEU1 PSAT1 BSCL2 FBXO7 PGAP2 EPB41L1 DEAF1 BRSK2 SCN1A DENND5A CAMK2B SLC6A1 OCA2 KCTD17 DRD2 GRIA3 PNKP HLA-DQB1 APP ATAD1 SERPINI1 CYFIP2 NUP62 UBE3A CASR TBC1D24 TSPOAP1 TAOK1 CILK1 PARS2 GRIN2A KIRREL3 AARS1 SCN3A ASH1L SYNGAP1 EPM2A RAB11A NHLRC1 GAMT SMO EEF1A2 PPT1 RAPGEF2 TSPYL1 KCND3 KIF1A TIMMDC1 SLC7A6OS GRIN2B WWOX PSAP FRRS1L DNAJC5 PSEN2 SLC2A3 GRIN1 MECP2 JRK MARCHF6 GRIN2D BRAT1 PRKCG PPP3CA MT-TQ TOE1 NFASC SCN9A PET100 STARD7 MT-TI ATN1 NDUFV1 CAMK2A APOE PTCD3 RORA CUX2 HTT MT-TS1 PIGL MT-TP ASAH1 MT-ATP6 MT-TK GABBR2 SC5D PHACTR1 PIGQ PIGV KCNQ5 NBEA AP5Z1 ADSL NUP214 AKT1 CLN8 PGM3 GLYCTK PIGA SCN1B HIBCH KCNA2 GOSR2 KMT2B QDPR SDHD GCSH PIGY KCNQ2 NECAP1 CTSF GLDC TH MAPK10 MT-TH MYT1L CELF2 ATP6V1B2 VPS13D GUF1 GNAO1 INPP5E KCTD7 HCN1 RORB KCNC1 GALC GABRD GABRB3 MT-CO1 PRICKLE1 KCNC3 SETD1B TRAF7 AFF3 ARV1 GABRA1 PIGW ATXN2 ATP13A2 SAMD12 MOCS1 POMGNT1 FGF13 GRIK2 SUFU COQ8A THAP1 FOXG1 BOLA3 CYP27A1 MT-ND4 SLC25A22 PGAP3 AP3B2 SEMA6B AMT KIF5A TYROBP MT-TL1 KCNB1 MTPAP COG8 PLCB1 SMARCB1 CHAMP1 FTL TMEM231 NTNG1 PLA2G6 NEUROD2 CLN3 FOXRED1 CNPY3 PLPBP MT-CO2 SORL1 ADRA2B CIC MINPP1 GABRA5 MOCS2 CLN6 GLRX5 CACNG2 NF2 SMARCE1 MT-ND1 SPTAN1 TNRC6A AKT3 MT-ND5 SDHA KIF1C GBA CNTN2 MAPT SMC1A KIF1B DHDDS TERT MT-CO3 ST3GAL5 CLCN4 PIGO YWHAG STAMBP CPLX1 FGF12 NDUFA4 CLCN2 VPS53 SET ABCD1 SLC1A4 PCDH19 TCF4 NOL3 MED12L DOCK8 NUS1 PODXL DALRD3 COX4I1 DHFR NARS1 SZT2 NDUFAF3 RMND1 DYNC1H1 CCDC88A DDC HP_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TREMOR MME SDHD SATB1 CIZ1 PDYN CACNA1A PDE10A SEMA3A SFXN4 COL6A3 ANOS1 TCTN3 DNAJC6 ERCC8 SLC39A14 CDK19 CEP41 SLC13A5 FGF14 NDUFS2 NKX6-2 MSTO1 ATXN10 CHCHD10 GABRG2 IFRD1 CEP126 IFIH1 VLDLR SAMHD1 ATXN7 ITPR1 POLG2 FGF8 CNKSR2 CTNND2 MT-ATP6 CARS2 INPP5E KCNA1 SLC6A1 SPG11 GABRB2 VCP PDGFRB ANO10 NTRK2 PINK1 TMEM70 SNRPN SLC25A46 TCTN1 NGLY1 TRAK1 SDHC TBP GPT2 CDKL5 MT-CO3 SLC1A2 ALDH18A1 ADA2 POLG CDH23 PLP1 SLC5A7 ERCC2 MYOT SIK1 ZFR MAX TFG NCF1 TMEM237 ELOVL4 AP2M1 GCH1 ATCAY RRM2B PROK2 NEXMIF ATP6V1A TPI1 EIF2AK2 BCL7B GJB1 PLA2G6 SCN1A ATM UBA5 MDH2 AIFM1 HNF4A CCDC88C DMXL2 DNM1 MT-CYB NTNG2 AHI1 TK2 PPP2R2B MYH14 ATP6AP2 MPLKIP FBXO7 ATXN8OS WDR81 YY1 ELN CWF19L1 KIF1C ZNF142 EIF4H PEX2 SPR SACS FLRT3 NEFL WFS1 FTL NONO EIF4G1 CYFIP2 TOR1A MT-ND6 LYST MT-CO1 ABCB7 WDR45 SYNJ1 SCARB2 KIF1B TARS1 AARS1 BUD23 SCN3A HTT ATG7 HTRA2 PSAP TPP1 CPLANE1 CLDN3 SLC18A2 SMN1 LRRK2 UCHL1 EEF1A2 CC2D2A SLC12A6 MT-ND4 SNCA SYNGAP1 STXBP1 POLR1C WWOX ERLIN2 ADPRS CAMTA1 RFC1 CTLA4 MECP2 ERCC5 GJC2 QRICH1 PIK3R5 SUFU MARCHF6 FH GRIN2D PPP3CA CA8 ADCY5 AR SCN9A GBA2 MRPL12 TSHR TMEM270 SLC20A2 TUBB4A NF1 ABCB4 TRAPPC11 MAPT HIBCH HS6ST1 FLVCR1 POLR3A ARMC9 SPTBN2 POU4F1 HPCA KCNJ18 GABBR2 MEN1 SLC30A10 SIGMAR1 TBC1D24 ADAR PIGQ ADH1C OPA3 STX1B ADGRV1 CHD2 KCNA2 LRPPRC TMEM127 GOSR2 TNFSF11 DHDDS QDPR GABRD RET CEP104 MAG LAMA1 CTSF RNF113A METTL27 CEP120 TH NDRG1 SOX10 COQ2 CLCN7 CELF2 GBA SH3TC2 CUL4B TTC19 CACNA1G ACBD5 PPP1R15B HCN1 NIPA1 TRAPPC6B C19orf12 OPA1 PAH SCYL1 PNP ATP2B3 ERCC3 PDE6D DPAGT1 KCNC3 ABCB6 MT-ND1 VAMP1 DNAJC13 ARV1 RFC2 GABRA1 TNNT1 ATXN2 ATP13A2 SAMD12 TAF1 ATP1A3 FGF13 GALT PEX10 NOTCH2NLC SQSTM1 SLC25A22 NEMF FAM126A AARS2 STUB1 FGFR1 VPS13D RNASEH2C MMAA FMR1 KCNB1 RAB3GAP2 CLIP2 SNCAIP MAOA SCN2A ABHD11 DCTN1 MTFMT GSS RNASEH2A GIGYF2 NSD1 UQCRC1 DARS2 NTNG1 NEUROD2 DCC STX1A SETX GABRA5 TMEM216 UGT1A1 PRKN AMACR CACNA1B AASS PRKRA SLC2A1 KATNIP BSCL2 CNTN2 ERCC6 MICU1 TMEM67 RPGRIP1L VWA3B COA7 NDNF POLR3B SLC9A1 SCN8A TGM6 ITM2B TRIO ATXN1 VPS13C WDR11 YWHAG XPNPEP3 FGF12 ALS2 AKT1 GTF2IRD2 DNMT1 PDGFB SDHA BRAT1 VHL REEP2 VPS37D NUS1 PODXL ANO3 PCBD1 CTDP1 NARS1 SZT2 OXR1 NPHP1 ERCC4 SCN1B KCNJ10 FUS MRE11 HMGA2 GTF2I YEATS2 PDK3 RAB39B DNM1L ATP7B TTR GALC PGAP1 UROC1 NR1H4 PRNP FAR1 NOP56 HMBS SPTBN1 NAXE SDHB ARL13B CLTC COQ5 PIGP TBL2 SGCE CBY1 ARL3 NKX2-1 GABRA3 ATP8B1 GABRA2 TACR3 CCDC141 ATP1A2 CASK PTEN MAN1B1 GGT1 CHCHD2 PIGN ZFYVE26 FARS2 MPZ BEAN1 GLUD2 DPM1 ELOVL5 EPRS1 CRAT C9orf72 DNAJC30 DNMT3A TAT HESX1 ACTL6B DAB1 GTF2H5 RARS1 CSTB SLC39A4 KIAA0586 TRIM8 PRICKLE1 TCTN2 GPAA1 PMPCA TMEM240 TTPA TREX1 MTM1 OCA2 PNKP UBE3A TSPOAP1 SETD2 PARS2 TSFM FRMPD4 PIBF1 PIK3CD KIF7 CLN5 GCDH KCND3 B9D1 RPL10 MKS1 GTF2E2 SLC25A13 PEX6 ABCB11 VAPB RNU12 LEMD3 VPS35 PANK2 EPAS1 SLC1A3 CSPP1 PRKCG PMP22 NFASC PNPLA6 FEZF1 SLC25A11 KIAA0753 SMN2 STARD7 PRDX1 PGK1 SDHAF2 MT-ND4L CTC1 SPRY4 AFG3L2 CTH RORA THOC2 JPH3 GTF2IRD1 KNSTRN ASAH1 SPEN MARS1 MYBPC1 MFN2 SLC6A17 OFD1 HYLS1 TENM4 NUTM2B-AS1 PROKR2 GCK PTS DNAJC19 APC2 SNORD118 LMNB1 VPS13A WARS2 CHD7 NECAP1 SNX10 SLC6A3 DUSP6 GNAO1 MORC2 TMEM63A KCNC1 ITPA FGF17 DLST RNASEH2B PIK3CA UFC1 CACNA1S CD28 FXN APTX TNFRSF1B FAM149B1 LNPK DDOST SLC19A3 GRIK2 COQ8A PARK7 SLC25A4 GTPBP2 CYP27A1 OPHN1 LEMD2 AP3B2 SEMA6B ARSA PITRM1 MYO5A PRPS1 DRD3 MMACHC TIMM8A MT-ND5 IL17RD MT-ND2 LAT2 ADRA2B TMEM106B RLIM SCP2 LIMK1 SMC1A BAZ1B ABHD12 NR4A2 ARX ADAMTS13 ATN1 NEU1 PCDH19 TWNK THG1L TCIRG1 FKBP6 GRM1 CLDN4 MLXIPL DALRD3 DDC CP LRP12 HP_PARTIAL_AGENESIS_OF_THE_CORPUS_CALLOSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARTIAL_AGENESIS_OF_THE_CORPUS_CALLOSUM KAT5 MPLKIP MDH1 SLC25A19 KIDINS220 LONP1 LRP2 OSTM1 GLI2 LRRC32 PDHA1 TMEM260 FRMD4A FUZ CDC40 CENPE GTF2E2 CRPPA AMER1 TARS1 PDHX ERCC3 NSD1 C2CD3 RNF113A GPSM2 WDR4 L1CAM MRPS25 MED12 TUBB3 GTF2H5 ARID1B TRAPPC12 KATNB1 ERCC2 DHCR24 HP_LISSENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LISSENCEPHALY ATR LARGE1 LMNB1 EML1 WDR73 ARHGAP31 ZNHIT3 VIPAS39 POMT2 LAMB1 PDHB FKRP NDE1 RAB3GAP1 RTL1 PEX13 TAF13 RAB3GAP2 ANKLE2 OCLN PIGQ CTNNA2 RTTN GPX4 POMT1 PHC1 CENPJ POMK APC2 METTL5 PYCR2 DAG1 NSDHL ACTB POMGNT2 SCN1B TPRKB TUBG1 TBC1D20 FKTN ACTG1 VLDLR PSAT1 CDK5 ETFA FTO TCTN1 KCNA1 PIGP CIT KATNB1 CRPPA MCPH1 TUBB3 WDR62 RELN CDK6 DCX WDR26 WDR4 GNAO1 FIG4 FOXG1 CEP152 CDKL5 KIF2A CASK SASS6 FAT4 TRAPPC14 ASPM YWHAE VAC14 MEG3 ADAMTS3 SIK1 MLYCD OSGEP ATP6V0A2 DCHS1 LAGE3 POMGNT1 GFM2 ATP6V1A TP53RK MPDZ KIF14 ARX HIC1 TBR1 SLC25A22 B4GAT1 CEP85L ISCA1 STIL DMXL2 SNAP29 VPS33B TUBB2B TRIM8 PAFAH1B1 MACF1 SCN2A TMTC3 DYNC1H1 COPB2 KIAA1109 CPT2 MFSD2A NEUROD2 COL4A1 ADGRG1 B3GALNT2 CCBE1 RAB18 PNKP CEP135 KIFBP NUP107 SRPX2 NEK1 STS RXYLT1 TUBGCP2 AKT3 TCTN2 CEP63 CDK5RAP2 CRADD ETFDH PHGDH KNL1 DHCR24 SLC25A19 RNU4ATAC PI4KA LAMA2 NUP133 TUBA1A LAMC3 TUBGCP6 PIK3CA ETFB FLI1 ALG12 NARS1 ATP6V1E1 GMPPB PEX10 PRKDC NCAPD3 CTU2 CSNK2A1 TMX2 RMND1 CCDC88A DLK1 PIK3R2 STXBP1 HP_CEREBRAL_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_HEMORRHAGE BRCC3 TENT5A APP SDHD PDGFB JAK2 KDELR2 SDHC ENG TERT FGA PDCD10 BAP1 STAT2 TMEM127 VHL ADA2 SMARCB1 CCM2 DLST RET MAX FGB COL4A1 F13A1 SH2B3 CFH SMAD4 AKT1 TRAF7 EPAS1 ACVRL1 SDHA CPT2 FH MBTPS2 CST3 SDHB FGG USP18 HELLPAR PROS1 FN1 KRIT1 DNMT3A SLC25A11 PIK3CA NF2 CFI GDF2 SMARCE1 F13B SUFU KIF1B NDE1 SDHAF2 COLGALT1 FCGR2C ABCC6 NOTCH3 NF1 SMO CD46 MDH2 HP_ABSENT_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_SPEECH LMNB1 CNTNAP2 SATB1 PIGA CCDC47 DNM1L PTCH1 INTS1 CAMK2B SLC9A6 MMP23B ASH1L LINGO1 DLL1 GABRB2 TDGF1 FGF8 C2CD3 GEMIN4 CTNNA2 PPP2R5D STRADA DCPS RHOBTB2 SPTBN1 TBCE DHX30 CACNA1B AIMP2 SPEN PUS3 SIX3 ZEB2 NEXMIF FGF12 WDR37 ZSWIM6 STXBP1 MDH2 COG8 MECP2 CARS2 FOXH1 CHAMP1 EP300 NEDD4L SYT1 LIPT2 SNRPN NGLY1 CACNA1E SATB2 USP7 GLI2 RERE PRKCZ SLC12A2 GABBR2 ZIC2 SMS OTUD6B PIGP VPS41 PLP1 SPATA5 WDR4 UNC80 FARS2 FKRP DPM2 ADSL EEF1A2 COG4 KCNB1 IFIH1 HUWE1 KIAA0586 GMPPB CLIC2 GRIN2D TGIF1 SMARCC2 KIF15 RARS2 UBTF TELO2 PPP2R1A SRCAP CLP1 EIF2AK2 GNS PNPT1 DISP1 SHROOM4 CNNM2 TBL1XR1 ARID2 NTNG2 SHH SLC6A3 UBE3A ALG11 MACF1 ACTL6B PGAP1 DYRK1A IARS1 USP27X TMTC3 KIAA1109 GRIA2 ARID1B DENND5A GRM1 NODAL SERAC1 OCA2 PACS1 SLC33A1 CDON TOR1A DPAGT1 HERC1 CCND2 UBE4B FGFR1 TBCD DEAF1 CASK GOT2 KIF5C KAT6A DAG1 GABRG2 ARL13B HTT FRMPD4 ATG7 MAGEL2 HNRNPH2 CREBBP CYFIP2 GNAO1 ALDH18A1 SPTBN4 ODC1 HIVEP2 TIMM50 SYNGAP1 HSPG2 PRPS1 EXOSC3 BCL11B GNB5 TCF4 ERLIN2 YME1L1 FRRS1L FKTN SIK1 DPYSL5 GFM2 RALA ZC4H2 GSX2 PPP3CA EXTL3 UBA5 ACOX1 TBC1D20 KCNH1 TOE1 TRAPPC2L ATP10A KLHL15 INTS8 MRPL12 ELP2 COPB1 DALRD3 ATP6V1A VPS11 CSNK2A1 PDPN SOX11 CNKSR2 ZBTB18 SMARCA2 RPL10 IREB2 GRIN1 EARS2 NCAPD2 KCNQ5 CAMK2A PIGG NFIX PIGV CLCN4 CPLX1 KCNA2 RAC1 ADARB1 BMP4 SNX14 PGAP2 UBE2A POLR3K ISCA2 KCNJ10 WARS2 GAS1 DPF2 PARS2 WDR45 NTRK2 CUL4B SMARCB1 KARS1 WDR26 CDC42 STAG2 FOXG1 CHMP1A SLC1A2 VPS4A UBE3B SLC25A12 FRMD4A TMCO1 MFSD2A MPDU1 PIGF NACC1 TUBA8 WDR45B TRAPPC11 PIGS IQSEC2 TOGARAM1 IQSEC1 POMT1 LUZP1 UFC1 YY1 TKT DPYD MSL3 UQCRQ LNPK SMARCD1 TMEM231 SCN3A MED25 POGZ ARID1A HSD17B10 RAB11B SCN1A SOX4 TAF2 HNRNPU SMC1A MCOLN1 MRPS34 SLC1A4 OPHN1 PMPCB DARS2 SMARCE1 WAC GRIN2B NCAPG2 PURA UFM1 KCNAB2 PIGW KCTD7 ASXL3 TANGO2 GRIA4 DEGS1 SLC35A2 SMARCA4 POMT2 TCTN2 PYCR2 SKI TRRAP SETBP1 NR2F1 ST3GAL5 UGP2 DNM1 SLC2A1 ALG14 VPS33A NALCN TRIO CASZ1 PRDM16 MFF RALGAPA1 SOD1 RAB3GAP2 CSPP1 ASPA KIF1A PPIL1 BRAT1 TRIT1 LAS1L HIKESHI SLC6A17 AP3B2 MBOAT7 RMND1 CCDC88A LARGE1 GABRD TREX1 PIGN GPT2 HP_PSYCHOTIC_MENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSYCHOTIC_MENTATION CHRNA2 FIG4 USP8 CHRNA4 MT-TS1 MT-TS2 MT-TQ MT-CO3 GRIN2A MT-TL1 AIP MT-ND6 MT-CO1 MT-ND1 MT-TW DEPDC5 CRH GSS MT-ND5 FRRS1L KCNT1 MTHFR CABP4 ALDH4A1 MT-TH MT-ND4 MT-TF MT-CO2 CHRNB2 HP_HYPERREFLEXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERREFLEXIA PSEN1 PRDM8 SLC25A15 PIGA MECR DCTN1 PDYN PCARE ADGRG1 RTN2 EIF2S3 NDE1 ATXN3 PNPLA6 TAF13 CCT5 NDP HARS1 OFD1 GRID2 DNMT1 SPTAN1 CTNNA2 ERCC8 AMPD2 ALS2 SLC39A14 FARS2 PHC1 CENPJ METTL5 IER3IP1 SPG11 PYCR2 FAS NKX6-2 QARS1 ATXN10 PUS3 IFRD1 ZEB2 MT-ND1 PC KIF5A VLDLR ATXN7 GPHN TREX1 MT-ND4 JAM3 KATNB1 BCS1L ALDH18A1 KIAA1549 ATL1 IDH3A ERCC4 PDGFRB SAG ANO10 VCP PINK1 SNRPN SLC25A46 MT-ND2 GPT2 IMPG2 SLC19A3 TOPORS PEX6 GUCA1B PIGP TRAPPC14 TMEM67 PAK3 NAGA IFT88 MSTN ABCB7 TACO1 ERCC2 HSPD1 PQBP1 SLC2A1 CA8 ZFR MAT1A CHMP2B COG4 NCF1 TRAF3 ELOVL4 SPATA7 GLRA1 WASHC5 RARS2 KIF1A PPOX RFT1 ERAP1 RNASEH2C CLP1 UGDH SELENOI DSTYK COG5 TBK1 BCL7B PLA2G6 LMNB1 ROM1 CCDC88C NEFH PEX10 COX5A MT-ND5 IL23R PPP2R2B ARL3 NEU1 ATP6AP2 ATRX BRCA2 CDC40 PGAP1 MPLKIP KDM5C FBXO7 PRNP TLR3 NSD1 CAPN1 TRMT5 PET100 USH2A GBA ELN SACS CHP1 EYA1 GRM1 CWF19L1 PDE6G KIF1C TANGO2 EIF4H NDUFA12 GALC TMEM106B GLUL NDUFS2 HPRT1 NDUFS3 KIDINS220 TULP1 SRPX2 COQ9 FTL PLP1 VPS37A NUP62 MT-TK UNC93B1 CNGA1 FSCN2 TARS1 BUD23 DHX38 NDUFA13 HTT OSTM1 DGUOK VRK1 TPP1 CDK5RAP2 B4GALNT1 CLDN3 SLC39A8 SLC18A2 LRRK2 UCHL1 CYFIP2 CC2D2A CLDN11 FANCB PSAP TIMM50 IL10 TBX4 PRPS1 EXOSC3 KIZ RLBP1 SMG9 ERLIN2 CAMTA1 AUTS2 PRRT2 SDHB CASK MAB21L1 NARS1 FKRP GJC2 EXTL3 ATP8A2 SOD1 GLE1 CFAP418 TUB KY ATP13A2 AP4M1 BSCL2 SDHA TOE1 FGF13 ADCY5 SPAST GBA2 ELP2 ATP6V1A RBP3 POMT2 ALG2 BRCA1 TMEM270 SLC20A2 EXOC8 SLC6A19 PLCB1 ECHS1 APOE SYNJ1 RAD51C NDUFS4 IREB2 HIBCH UBAC2 RNASEH1 CA4 ARL2BP SPTBN2 MT-TE NDUFS7 SIGMAR1 GRM7 ATAD1 HEXB C4A ADSL KDM1A EYS GLYCTK MECP2 SLX4 SLC46A1 PCYT2 TSEN2 MARS2 PRKCG PRCD LINS1 ISCA2 MYORG GCSH GM2A RPGR CTSF RNF113A METTL27 TH TLR4 CYP2U1 AUH WDR62 NALCN SLC6A9 ERLIN1 NTRK2 REEP1 TTC19 PEX14 PPP1R15B PEX26 CEP152 ERCC3 NIPA1 TRAPPC6B C19orf12 OPA1 SASS6 PAH SCYL1 IBA57 ASPM MT-TW DPAGT1 KCNC3 NT5C2 POLR3A RP9 VAMP1 KCNJ6 DPYD RFC2 KCNQ2 SCAPER AAAS UBE2T NDUFAF4 ATP1A3 MT-ATP6 ALG9 RAD51 PDE8B PDHA1 SQSTM1 PGM3 FAM126A STUB1 FA2H SCN1A DDHD1 PEX1 VPS13D SLC35C1 PRUNE1 PAX1 CLIP2 GCLC MRPS34 FANCE ABHD11 ABCD1 LRAT COX10 TICAM1 DCC IFT172 ACOX1 MFSD2A FDX2 FANCI DDHD2 NDUFAF6 CEP135 MATR3 DLAT PEX2 STX1A PRPF8 HGSNAT HLA-B KCNA1 PRKN IFT140 NDUFA10 MTPAP COQ2 PEX5 PRKRA AHI1 NDUFV2 FANCL MTRFR ARSA TCTN2 WARS2 SNCA ATXN8OS BEST1 ERCC6 NDUFV1 VWA3B POLR3B TGM6 KLC2 IL12A KNL1 SNRNP200 ATXN1 VPS13C DNAJC6 PI4KA NEK2 POMK AHR NDUFA4 CACNA1G GTF2IRD2 MT-ND6 ASPA CLTRN RP1L1 PPIL1 PDGFB TRAK1 BRAT1 POU3F4 TREM2 GNAQ CIT VPS37D BCAT2 JPH3 NDUFAF3 MCOLN1 NDUFAF2 FANCD2 AP4S1 CCDC88A SPG7 CAV1 FUS MCCC1 PROM1 MRE11 NDUFS1 TAF2 SURF1 GTF2I ZNHIT3 DNM1L ADAR KRAS AP4E1 PTS ACSL4 UROC1 ANKLE2 MAPT C9orf72 CCR1 FAR1 NOP56 GCH1 PEX3 CLPB RUBCN IDH3B SPTBN1 WDR81 MFF RAB18 RPGRIP1L DARS1 ZFYVE26 ZFYVE27 PMP22 SUMF1 SLC16A2 COQ5 SIK1 TBL2 MCPH1 RFWD3 RGR SLC6A5 PRPF31 GAN CACNA1E CRX ATP1A2 CARS1 PRPH2 SLC12A2 DARS2 KCNK4 GLRB GARS1 CYP7B1 CHCHD2 PIGN MKS1 WDR4 STAT4 LIPT1 BEAN1 REEP6 HUWE1 DPM1 ATXN2 CRAT CNGB1 ARHGEF18 TAF1 SYNE1 DNAJC30 MORC2 SEMA4A GRN KCNQ3 NDUFS8 REEP2 NARS2 KIF14 OCRL GTF2H5 CNNM2 RARS1 DYNC1I2 ISCA1 NOTCH2NLC PSAT1 OPA3 NUBPL CNTNAP1 ARL6 SAMD9L GPAA1 EGF PMPCA SDHAF1 PEX16 SLC29A3 DENND5A ASNS CSF1R OCA2 INPP5E CRB1 MAK GJA1 SEC31A COX15 FANCA UBE3A TSPOAP1 JAM2 TBCD RUSC2 FRMPD4 MT-TL1 KLHL7 CEP63 GAMT AASS GJB1 POMT1 TRAPPC11 AP4B1 HPDL CLN5 KCND3 MICOS13 TTC8 CREBBP RPE65 GTF2E2 SLC2A3 GFM2 MRPS25 ZC4H2 PRPF6 SETX PANK2 USP8 FANCF SLC1A3 ERCC1 FOXRED1 RDH12 PRPF4 ARX VAC14 GMPPB NFASC RP2 NCAPD3 POMGNT1 FAM161A SPG21 EP300 NDUFAF5 TMX2 TFG AFG3L2 PRPH SDHD NEK1 GAD1 WDR73 MT-TN ITPR1 EXOSC9 GTF2IRD1 DKK1 PCDH12 DYM UBAP1 MEFV PDE6A KLRC4 TRMT10A AP5Z1 RAB3GAP1 MT-ND3 PRPF3 DHDDS BICD2 ABCC8 CACNA1A PODXL IMPDH1 SPART NDUFA2 LBR CPT1C SHMT2 GLDC PARS2 NR2E3 LYRM7 PDE6B MTFMT RHO CDK6 PEX11B XRCC2 SLC25A21 CHMP1A TTBK2 ABAT SLC25A12 BBS2 PKDCC WWOX PCLO HRAS HTRA2 IL12A-AS1 ARL6IP1 UFC1 NONO FANCC ZNF408 RP1 MSL3 UQCRQ NRAS CERKL PRSS12 AGBL5 COQ8A PARK7 GTPBP2 CYP27A1 MT-TL2 PEX13 SLC7A14 MAD2L2 SLC44A1 ABCA4 STIL SEMA6B L1CAM AMT MED17 PEX12 PITRM1 TIMM8A AP1S2 COPB2 SLC1A4 SPR MCCC2 CNP PLPBP NDUFA9 MAN2B1 HTRA1 ALG3 LAT2 MINPP1 PEX19 RLIM FLRT1 NRL GLRX5 TUBGCP2 MLXIPL SLC25A22 CDHR1 ZNF513 ALG11 TUBB2B LIMK1 ATP5MK NSUN2 BAZ1B ABHD12 RNF2 ST3GAL5 UGP2 ACTA1 SLC52A3 PIGT MERTK CLRN1 EEF2 KCNT1 MT-TS1 LARGE1 SLC33A1 AIFM1 FKBP6 CLDN4 GRIN1 OCLN GDAP2 FANCG HIKESHI MT-TV COX4I1 GFM1 MBOAT7 SEPSECS BRIP1 GEMIN5 DDC GMPPA FANCM PALB2 MFN2 TSEN15 HP_BRISK_REFLEXES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRISK_REFLEXES SCN1A MT-TN PPP1R15B ATP13A2 COX5A CARS1 SLC16A2 PITRM1 SPAST GBA2 CDC40 BSCL2 PKDCC CAMTA1 PARK7 SIGMAR1 COX10 ALS2 PAK3 HARS1 NDUFA4 GCH1 FTL MSTN MT-TS1 MRPS25 CNP TRMT10A ALDH18A1 ADSL PPIL1 SPTBN1 IER3IP1 GLE1 COQ8A C19orf12 PMPCA DARS1 TSPOAP1 JAM2 BCAT2 TBCD TUBGCP2 COG5 COQ5 MT-TL1 TH SPG11 GEMIN5 LYRM7 REEP1 GRM1 FUS MT-TL2 AASS ANO10 HP_FACIAL_DIPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_DIPLEGIA TPM2 SPEG SLC12A6 ABCA1 NEB CFL2 RYR1 SCO2 MYPN POLG CRYAB CNTNAP1 PI4KA TPM3 YME1L1 KBTBD13 DMPK MPZ BIN1 ACTA1 TK2 KLHL41 POMT1 ADGRG1 SOST FKTN GLE1 TWNK SRPX2 TTN KLHL40 MTRFR POLG2 RRM2B LMOD3 SLC52A3 SLC25A4 SHMT2 CRPPA FKRP VCP SUCLA2 ADCY6 HP_SLURRED_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLURRED_SPEECH SPTBN2 ABCD1 KCND3 ACOX2 SLC1A3 CWF19L1 CTSH ATP6V0A2 KCNA1 CA8 ATP6AP2 TBC1D2B MT-TK NEU1 GRIN2A MAPT PRNP PODXL SYNJ1 ATXN1 GALC ITPR1 SPART VPS13A P2RY11 DNAJC6 GLB1 EZH2 FASTKD2 ZNF365 DARS2 SETD2 MOG SPG7 TNFSF4 HLA-DQB1 HCRT HLA-DRB1 ANO10 HP_MEGALENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEGALENCEPHALY PIK3R2 MTOR GAS1 NRAS PIK3CA FOXH1 RAB39B FGFR2 TGIF1 SMS PTEN TDGF1 NODAL TSC1 SMO MLC1 HERC1 AKT3 IFNG ASPA ZIC2 GLI2 STRADA TSC2 FGFR3 HEPACAM PTCH1 NPRL3 CCND2 SHH SIX3 DEPDC5 CDON TBC1D7 NPRL2 HRAS FGF8 DLL1 DISP1 CRADD KRAS HP_PLAGIOCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PLAGIOCEPHALY HERC2 CNOT3 B3GALT6 DHX37 PPP1R21 RNASEH2C MAFB CCDC47 PIGL PRUNE1 KRAS RTL1 FBXL4 TCF12 DYNC1H1 PCGF2 PGAP2 SET UNC80 WDR35 MBTPS2 KIAA1109 RNASEH2A WBP11 TREX1 KMT2C PIGV PPP2R5D HEPHL1 POLR2A LMX1B PPP2CA SPTBN1 FAM20C SMC3 KIDINS220 NEPRO ZBTB20 AFF4 PPP2R1A FKTN ADARB1 BMP4 FGFR3 IFIH1 EFNB1 SAMHD1 RAC1 TBCD PIGY EMC10 AGO2 CHSY1 KAT6A ARID2 DPYS FGFR2 SALL4 MAPK1 TCF20 TUBB3 ARID1B MADD ATP6V1B2 NLGN4X CYFIP2 MIR140 TBC1D24 FBXO11 RAC3 ERF INPP5E MESD USP7 PIGO MYMK NALCN TWIST1 MAF ERGIC1 PKDCC STXBP1 NFIX RNASEH2B ZNF699 DPYSL5 MEG3 ADNP CASK MED12 ERMARD HRAS PPP3CA EHMT1 ALG12 MED13L SMARCA2 NONO ADAT3 ZNF292 PIGW NRAS PIGQ SLC26A2 UGDH COL11A2 ZIC1 EIF5A ADAR MN1 DLK1 PHF21A COL11A1 PGAP3 CHN1 HP_HOLOPROSENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HOLOPROSENCEPHALY LARGE1 RB1 TMEM107 SHH SOX2 BUB3 SIX3 BUB1B BUB1 TMEM231 SEMA3E FGFR1 POMT1 STIL TCTN3 GLI2 C2CD3 RPGRIP1 RTTN ZIC2 WDR81 CNOT1 GLI3 TCTN1 POMGNT1 PROP1 SEC31A B9D2 HESX1 B3GALNT2 DHCR7 CSPP1 VANGL2 PTCH1 TGIF1 SMC1A MKS1 POMT2 STAG2 FKRP FGF8 CHD7 LHX4 TMEM216 PPP1R12A OTX2 CDON L1CAM GPKOW CEP57 CC2D2A FKTN FOXH1 DISP1 POU1F1 MTHFR RPGRIP1L PRRX1 TMEM67 B9D1 FOXA2 NODAL TDGF1 GMPPB TRIP13 FGFR3 DLL1 TCTN2 HOXA2 TXNDC15 GAS1 SUFU CILK1 TMEM237 CEP290 HP_NYSTAGMUS_INDUCED_HEAD_NODDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NYSTAGMUS_INDUCED_HEAD_NODDING BAZ1B LAT2 STX1A NCF1 GTF2I RFC2 FKBP6 GPR143 GTF2IRD1 CLDN4 DNAJC30 VPS37D CLIP2 MLXIPL ABHD11 BUD23 TMEM270 ELN METTL27 BCL7B TBL2 GTF2IRD2 LIMK1 CLDN3 EIF4H HP_CALVARIAL_SKULL_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALVARIAL_SKULL_DEFECT NSD2 FRAS1 COL18A1 ARHGAP31 NOTCH1 GRIP1 RBPJ CTBP1 ITGB4 NELFA LETM1 EOGT DLL4 DOCK6 FREM2 HSPG2 BMS1 CPLX1 UBR1 WNT7A PLEC LBR PIGG ALX4 HP_CRANIOSYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRANIOSYNOSTOSIS B3GALT6 CDH11 LEMD3 FGFR2 AHDC1 ERF FBN1 CCNQ POR ALX4 SLC25A24 HNRNPK ESCO2 GLI3 RBBP8 RAB23 ZIC1 ATRIP SLC2A10 RTTN SH2B1 P4HB FGFR1 IFT43 MYH3 MAN2B1 SMAD3 CHST3 KANSL1 DMP1 ZEB2 POLA1 TNFSF11 BMP4 EFNB1 APC2 CENPE MASP1 SNX10 RNF113A TGFBR1 NFIX RECQL4 CLCN7 MSX2 ATP6V1B2 CWC27 RAC3 OTUD5 AKT1 IRX5 SMAD6 MAP3K7 CDC6 TRAIP SLC35A2 PCNT SON TMCO1 COLEC11 PTEN CYP26B1 SMO COLEC10 RSPRY1 ERCC3 PPP1CB ATR ZNF699 CTCF CDT1 PPP3CA ADAMTS3 STAT3 FGFR3 ERCC2 GLIS3 DSE WDR19 TWIST1 YY1 IFT122 HUWE1 MEGF8 TANC2 ORC1 FLNB GMNN PHEX CHST14 DPH1 GTF2H5 SETD1A GTF2E2 ENPP1 IL11RA SEC24C SPECC1L GNPTAB B3GAT3 COMT DONSON PSAT1 JMJD1C TLK2 FAT4 MPLKIP CDC45 SCUBE3 GPC6 WDR35 ORC4 TCF12 PIGT NSD1 SLC39A8 KRT5 CCBE1 NSUN2 CEP152 IFT52 SETD2 IFT140 TARS1 BPNT2 KAT6A PLK4 KPTN ALPL IL6ST HIRA SCARF2 AASS TBX1 TBC1D24 TCIRG1 KRT14 DPF2 SLC12A6 UFD1 LIG4 MAF TGFBR2 B4GALT7 PIGO CEP120 CENPJ MED12 GP1BB EXTL3 SKI FLNA ARVCF SEC24D B3GLCT RREB1 LRP5 CEP57 ORC6 EXOC8 KRAS HP_ABNORMAL_JOINT_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_JOINT_MORPHOLOGY TRPS1 COL1A1 NF1 LEMD3 COLEC10 NTRK1 ALX3 CCDC47 LMBR1 ADGRG1 TPM3 KMT2D HPGD PTPN22 DPM1 KANSL1 GORAB MBTPS2 COL1A2 ARSL SLC39A14 F11 SMOC1 CBL SPEN MAP2K1 PUS3 KRAS SIX3 GABRG2 ZEB2 LMAN1 KIF5A GJB2 ACVR1 SOS2 FLNB SAMHD1 NIN EYA1 CSGALNACT1 NXN FGF8 SPG11 SOS1 RPL13 MAP2K2 CHST14 BHLHA9 MIR140 CLCF1 RAC3 NGLY1 HACD1 CANT1 PSTPIP1 FIG4 COL11A1 F8 NRAS ITGB4 HOXD13 GLI2 PRKCZ MYH3 CYP27B1 ALDH18A1 MATN3 PEX5 SALL4 RSPRY1 GHR RMRP VAC14 ZSWIM6 MEG3 CDT1 MED12 ARSB ERCC2 PQBP1 LMNA EXT1 HYAL1 PTCH1 NCF1 ATP7A BMPR1B SUFU ALPL ERAP1 SETBP1 AEBP1 B3GALT6 YWHAE COL9A1 CHN1 CHUK BICRA DONSON C12orf57 FAT4 POR KDM5C FKRP CAPN1 GSC SHOC2 ELN SCN1A NODAL ANO5 GLI1 EIF4H HPRT1 MMP13 NEFL NKX3-2 KIF1A TRPV4 SMARCA2 TOR1A SLC34A3 TBX5 PSMB9 GMPPB IDUA ECEL1 MEFV COL10A1 BRD4 APOE HOXA11 GJC2 COX8A DHX16 HIRA DLK1 MIF PPP1CB CLDN3 DDRGK1 TBX1 PTDSS1 SPTBN4 ATP6V1A COL17A1 FGFR2 IL10 PIEZO2 COL6A1 TBX4 SHH HSPG2 TBCD EXOSC3 LARGE1 SMG9 GCM2 KAT6B ERLIN2 CDC73 FERMT1 BTK CLCN7 NUP133 NAA10 SDHB STAG1 FKBP10 PWAR1 RPL26 ADAT3 ATP6V1E1 SPTA1 RAPSN ATL1 KY PLOD2 AP4M1 FGF13 COL2A1 TRIM2 VPS13B POFUT1 CAV1 G6PC1 EIF5A FAS FGFR3 TMEM270 GLE1 TGIF1 RAF1 PAX3 RAD51C RIT1 SLC25A46 MEOX1 HLA-DRB1 BCOR NFIX IL2RA C4A GAN IDS MYL2 STAT4 GLI3 ADGRV1 TNNT3 SLX4 ATP6V0A2 ALX1 GNPTG FLVCR1 MCFD2 BMP4 SLC40A1 FGFR1 MASP1 PTH1R RNF113A METTL27 LAMA2 ARID1B PIGL SMARCAD1 LMOD3 SLC6A9 REEP1 SH3TC2 CUL4B GLA MUSK TOR1AIP1 ZC4H2 MAP3K7 NIPA1 UBE3B TP53 COLEC11 CBS IGHMBP2 PTEN P4HTM SLC10A7 PLOD1 XPA SLC37A4 TNFRSF1A COL11A2 TFAP2A COL6A3 MVK MMP1 IKBKG SYNE2 COMP DNAJC21 RFC2 AP3B1 LAGE3 DNASE1 UBE2T PSMB4 COL7A1 DDB2 CRKL RAG2 GTF2H5 FN1 SCARB2 ORC6 RBM8A INPPL1 ACTA1 CD247 TGFB3 STUB1 LAMC2 TMEM251 ENPP1 SMAD4 CLCNKB COL12A1 SLC18A3 RASGRP1 CLIP2 EVC ABCG8 GGCX DSTYK SNAP25 LETM1 CASP10 IFIH1 TPM2 CENPT DNAL4 VDR ZIC2 FANCL SOX5 SMC1A BGN BPNT2 MAPK1 SPP1 LACC1 PYCR2 SIX6 PIGY EPCAM XYLT1 CLTCL1 F13A1 FXYD2 SUZ12 FGA HACE1 ACAN WIPF1 RNU4ATAC CCR6 POGLUT1 FBN2 GDF3 SMC3 LZTR1 FGB DYNC2I1 SOD1 AP2S1 TGFBR2 GP1BB ESCO2 IHH SKI RPL10 GFPT1 HJV POU3F4 DYNC2H1 TCF3 CTDP1 TWIST1 MAP3K20 RYR1 MYBPC1 PLOD3 LAMB3 GPC6 HBB PPP2R3C FANCD2 ATL3 SLC4A1 RTL1 GTF2I IRF5 CFL2 LRP6 FBN1 TBC1D2B ATP7B EBP CCR1 MCTP2 AP4S1 ZNF469 GLRA1 SPTBN1 NOG HFE EFL1 RAB33B ARF1 P4HA2 RAB18 STXBP1 FZD2 DMP1 GDF6 ZFYVE27 WASF1 ERLIN1 HES7 LBR SFRP4 GPC4 RFWD3 TRAPPC12 COPA PYCR1 DYSF SLC6A5 HLA-B MIA3 GUSB EMD SATB2 RERE PYROXD1 MAFB ERGIC1 RINT1 MADD PIGN UNC80 MPZ FCGR2A IRF6 TBX6 KIAA0586 COL3A1 SYNE1 DNAJC30 GMNN SYT2 GDF5 NEDD4L C19orf12 TP53RK SLC26A2 PTPN11 RECQL4 DYM SEC24C COLQ FOXH1 CAPN3 PSAT1 GBA2 SHOX ORC1 DYRK1A PRPS1 POMT2 TNFSF11 LAMA3 CD244 CIITA RUNX2 SEC61A1 FLNA DCLRE1C FOXP3 CDON FANCA BRAF DHCR7 UBE4B SRP54 SCARF2 CREBBP FGF10 LGI4 DPAGT1 ABCC6 NPR2 MMP14 GCDH C2orf69 GTF2E2 GPKOW LRBA ORC4 CEP120 FANCF ERCC1 CHRNA1 TBR1 BAG3 ARVCF PMP22 KCNK9 FGF9 B3GLCT KNSTRN FGD1 SPTLC1 DLL1 SLC5A7 CTC1 MMP2 EXT2 PLEC LONP1 SPTB GTF2IRD1 NTN1 DKK1 CTLA4 MFN2 COL9A2 HNF1B NUP88 IFITM5 LMX1B EPB42 ANKRD11 NLRP12 TRAPPC2 AP4E1 BICD2 SCN9A WNT5A NLRP1 FKTN ACTG1 TBC1D7 ADAMTSL2 TFR2 SPART TPRKB PLAU GAS1 TNFRSF11B SERPINF2 LARS2 XRCC2 STAG2 COL9A3 HLA-C DLL3 ANK1 GALC AMER1 ECE1 ALAD SOX9 ADAMTS3 HK1 IL12A-AS1 ZMPSTE24 CHRND DSE TGDS NONO COL5A1 YY1 HDAC8 PEX6 FANCC UFSP2 APC MTHFD1 TNNI2 LRP4 MAD2L2 FCGR2B RAB23 NT5C2 LIFR L1CAM NFKBIL1 WRN GBA SCN1B PIK3CD COL5A2 ITGA6 TBX22 THOC2 CRLF1 ALG3 LAT2 IFT172 GNPTAB ROR2 DISP1 IL12B CHRM3 RETREG1 CYP19A1 LIMK1 NLRP3 PEX2 UBA1 CCBE1 SLC52A3 ADAMTS2 PIGT GATA1 PUF60 FRZB VAMP1 HCN1 ACP5 PNPT1 WNT7A HAMP EXOC6B FLI1 ALG12 PAFAH1B1 OFD1 HOXD10 PRKCD SMAD3 NSD1 RASA2 NPAP1 FANCG IARS2 RAB3GAP1 KIF22 BRIP1 FANCB DNAJB11 GABRD SNORD115-1 FANCM PALB2 TONSL ATR SH3KBP1 A2ML1 MKKS SH3PXD2B F7 HERC2 RTN2 CLCN5 TRIP11 TGFB1 TREX1 GJB6 MUC1 SVIL TDGF1 OBSL1 PPP2R5D CHEK2 MYO9A TNXB DHCR24 SPTLC2 GPHN HGD PITX1 CFI RPS15A EZH2 GJA1 TUBB3 STAT3 ERCC4 CRTAP ASPN AKT1 IL2RB NOTCH3 TMTC3 NDN LOXL3 NALCN EMG1 SIK3 NANS ZNF699 CTCF GPC3 ZIC1 NOD2 PHEX ZDHHC9 OSGEP MEGF8 POP1 FDFT1 CYP3A4 MYOD1 PDGFRB CNTN1 PIK3C2A CD79A RRAS2 SELENOI FLT4 SNRPN DHODH COG5 SLC25A1 PSENEN CD96 UBE2A BCL7B CCN2 SLC35A3 SELENON B3GAT3 SMAD6 COMT NOP10 RAB3GAP2 TP63 IL23R MYH14 ATP6AP2 DVL1 GNE ATRX DCC BRCA2 IGLL1 MPLKIP CDC45 PTCH2 CHSY1 SIL1 IL1RN CHAT NADSYN1 VWF HEPHL1 HRAS POLR1A RRAS AFF4 FUZ CNTNAP1 BPTF TARS1 BUD23 ARFGEF2 KAT6A VANGL1 HTT SNORD116-1 LPIN2 SLC39A13 PSMB8 SLC39A8 PTPN2 SIX1 SERPINF1 PHGDH PLEKHG5 KIF7 TBX15 POLR3GL MESP2 DDR2 PWRN1 AUTS2 DPYSL5 UMOD IL6 F10 IL36RN MKRN3 MACROH2A1 EXTL3 CPT2 NT5E BMPER SDHA CENPJ SOX2 DAG1 GNAS ERMARD LAMB2 TWIST2 BRCA1 PDPN TF MYH8 UBAC2 KCNJ1 SLCO2A1 RIPPLY2 PEX1 DYNC2LI1 KMT2A CHRNG SERPINH1 ATAD1 RTTN ITCH TIMM22 STX1B ACTB TELO2 CHST3 PRKACA SBDS CYP2R1 SMO EFEMP2 TGFBR1 PEPD TLR4 CDC6 MYD88 MEN1 LMNB2 SLC34A2 SPRTN ZBTB20 CYP26B1 ERCC6 ERCC3 LUZP1 WDR35 FGG NEB RB1 GABRA1 XPC ZNF687 ALG9 RAD51 NOTCH2 PSMD12 MAP1B FA2H ZPR1 PRKACB RNASEH2C SPAST SMARCAL1 WAS FANCE ABHD11 PFKM DOK7 RNASEH2A KDM6A NHP2 FANCI MYH7 NUP107 STX1A BMP2 CCDC8 NEPRO BTNL2 F2 SNRPB MYO18B RIPK4 ASXL1 IL6ST SETD2 GNA11 WDR73 IL12A UFD1 MRAS VPS33A MAF IGHM IFT57 UROS CSPP1 GTF2IRD2 ABCD1 POMT1 CDH3 CHD4 ANAPC1 VPS37D FASLG F13B CHST11 TCTN3 EED SF3B4 ANKLE2 HOXA13 GNB2 LFNG SLC12A1 ANKRD55 GPR101 MMP23B TNFAIP3 GEMIN4 UBR7 ANTXR2 VCP CTNS GALNS MAN2B1 PRKAR1A EFNB1 OCRL AIP MECP2 TBL2 MEGF10 EP300 WDR4 COG1 CARS1 SLC35A2 PORCN VEGFC SSR4 CYP7B1 WNT4 COL13A1 FGFRL1 KRT5 CPLX1 PHF6 MYLPF FGF16 SRCAP BCR ADAR OPA3 ANKH ARNT2 SERPINE1 EVC2 IFT52 RNF168 SHROOM4 RAD21 ANO10 ITGA7 TMEM70 SCN2A F5 JMJD1C ERCC5 SAMD9L SDHAF1 MECOM WBP11 EIF2AK3 NIPBL KLHL41 CUL7 NSDHL OCA2 SEC31A UBE3A FHL1 RAG1 FBLN5 IRAK1 F9 TGFB2 TFAP2B SLC22A4 GPX4 AP4B1 TBX3 CCN6 B4GALT7 GFM2 USP9X SLC29A3 KIDINS220 AGA UCHL1 SRY RREB1 INPP5K COL6A2 PSAP HS2ST1 SDHD TENT5A GCH1 CA2 KLRC4 FBXW11 SLC2A10 NSD2 PIGV GLB1 OTULIN FBXL3 SLC12A2 DNASE1L3 TMEM43 FBLN1 APC2 VPS13A TCF12 SYK HS6ST1 MLX AARS1 MORC2 CHMP1A SALL1 GRIA3 KLHL9 PKDCC PCNT SLC12A3 RNASEH2B LRRC8A ADA2 AFF3 ACTG2 GLRB PIK3R1 HINT1 DSP PRMT7 MAGEL2 MED25 CYP27A1 ALG2 ARL6IP1 PRG4 KDELR2 CTBP1 ALG14 ASAH1 MCOLN1 UPF3B TIMM8A KIAA0319L MYOT SLC35D1 CD79B ELP1 BMP1 FUT8 THRA NDUFAF6 KCNAB2 AGRN ASXL3 MLXIPL EIF4A3 MTX2 FLNC BAZ1B BLNK POLR3A UGP2 SLC16A2 DVL3 CASZ1 PRDM16 PTRH2 JUP COL27A1 PCDH19 AIFM1 DKC1 FKBP6 SRD5A3 CLDN4 MBTPS1 PIK3R2 WNK1 HP_ARTHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTHRITIS SLC4A1 SH3KBP1 TENT5A TRPS1 COL1A1 NLRP3 LEMD3 UBAC2 SPTB CCN6 TRAPPC2 LRP6 SLCO2A1 ATP7B KNSTRN HNF1B HPGD PTPN22 SLC37A4 TREX1 CTLA4 GJB6 MUC1 DDRGK1 ANKRD55 HLA-DRB1 PRPS1 PTPN2 COL9A2 GPR101 MEFV COMP NTRK1 CCR1 GCH1 KLRC4 IL2RA FAS C4A LMX1B IDS ACAN MATN3 HFE STAT4 EPB42 P4HA2 NLRP12 SMAD3 COL2A1 MMP13 GJB2 DNASE1L3 IFIH1 SAMHD1 AIP TRPV4 COL11A2 FGFR3 HGD TFR2 VPS13A CFI SYK LBR TLR4 MLX MYD88 CLCN7 COPA TNFRSF11B ASPN GLA HLA-B IL2RB COL9A3 PSTPIP1 F8 HLA-C ACP5 ANK1 HPRT1 RNASEH2B FGFR2 LRRC8A ZMPSTE24 TNFRSF1A IL12A-AS1 NOD2 PHEX LMNA ADA2 MVK FCGR2A BTK COL3A1 DNASE1 ZNF687 PSMB4 PIK3R1 GDF5 CD79A ERAP1 RAG2 COL9A1 COL5A2 PSENEN MTHFD1 SCARB2 UBA1 ADAR SLC12A3 OCRL PRKCD ANKH CD247 RNF168 TGFB3 SEC24C PRG4 FCGR2B KDELR2 RNASEH2C NFKBIL1 CLCNKB ASAH1 COMT COL5A1 IL23R MYH14 SLC26A2 GBA UFSP2 JMJD1C RASGRP1 IGLL1 ABCG8 WAS PIK3CD PFKM CD79B RNASEH2A CD244 CIITA KIF22 CASP10 SEC61A1 AEBP1 IRF5 IL10 DCLRE1C MBTPS2 FOXP3 FBN1 RAG1 IRAK1 PSMB9 IL12B APOE CANT1 CCR6 F9 HIRA MIF SPP1 LACC1 MMP14 FGF10 TBX1 EPCAM SLC22A4 BLNK KRT5 C2orf69 IL12A WIPF1 UFD1 CCN2 EXT1 POGLUT1 FRZB LRBA IGHM UMOD IL6 COL11A1 IL36RN GP1BB MIR140 HOXD10 SPTA1 HJV ARVCF SLC40A1 TCF3 AGA FASLG POFUT1 GNAS CAV1 RREB1 G6PC1 GHR DNAJB11 MMP2 TF EXT2 HP_RHEUMATOID_ARTHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RHEUMATOID_ARTHRITIS PTPN22 ANKRD55 HLA-DRB1 IL10 SLC22A4 PTPN2 DCLRE1C IL2RB CD247 NFKBIL1 ACP5 GCH1 CD244 IL6 CIITA MIF IL2RA STAT4 LACC1 HP_JOINT_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_DISLOCATION SHOX ATR ATP7A COL1A1 MKKS GTF2I HDAC8 B3GALT6 IARS2 GNB2 CFL2 CCDC47 FBN1 COL12A1 SLC18A3 TPM3 KMT2D PTCH1 EBP KANSL1 GORAB DNAJC21 MCTP2 DLL1 TDGF1 OBSL1 FGF8 GEMIN4 ZNF469 PPP2R5D GLRA1 SOX9 SMOC1 TBX4 ARF1 RYR1 FZD2 SIX3 PRKAR1A PYCR1 RBM8A FLNB OCRL GPHN MYO9A HGD EYA1 FOXH1 CSGALNACT1 NXN TBL2 RECQL4 RFWD3 ALDH18A1 EP300 ERCC4 CHST14 SLC6A5 NGLY1 AKT1 HACD1 RNU4ATAC FIG4 TBX15 GLI2 ZIC2 GLI3 TMTC3 HSPG2 SSR4 ERGIC1 COL1A2 COLEC10 STXBP1 VAC14 ROR2 CDT1 COL13A1 ERCC2 FGFRL1 LMNA EXT1 CPLX1 TPM2 OSGEP ATP6V0A2 NCF1 FLNA ASXL1 TGIF1 PUF60 COL3A1 DNAJC30 GMNN SYT2 NEDD4L SRCAP AEBP1 YWHAE ATP6V1A COL5A2 SLC25A1 SLC26A2 CD96 UBE2A COL6A3 BCL7B GTF2H5 SLC35A3 ARNT2 DISP1 SELENON SHROOM4 RAD21 ITGA7 SEC24C LMX1B B3GAT3 SIL1 SHH SMAD6 COMT COL5A1 DVL1 COL2A1 JMJD1C BRCA2 ORC1 ANKH MPLKIP POMT2 ORC4 GSC CHAT ELN KIF22 ADAMTS2 EIF2AK3 NODAL NOTCH2 NIPBL KLHL41 CUL7 NSDHL EIF4H GDF5 GJA1 CDON SEC31A FANCA SMARCA2 TOR1A FHL1 DHCR7 FBLN5 ACTA1 GMPPB FGFR1 PORCN ECEL1 BRD4 TARS1 CANT1 BUD23 HOXA11 ARFGEF2 COX8A PLOD1 HIRA SLC39A13 SCARF2 CLDN3 CREBBP COL6A1 TBX1 SIX1 FANCB GCDH TBCD EXOSC3 LARGE1 MYH7 GTF2E2 KAT6B NEB TGFBR2 B4GALT7 DPYSL5 VDR USP9X ZC4H2 TONSL MACROH2A1 SKI ATP6V1E1 FANCF ERCC1 CHRNA1 KDM6A CHRNG ARVCF ERMARD RREB1 INPP5K BRCA1 TMEM270 SLC5A7 MYH8 CHRM3 RAD51C TENT5A GPC4 LONP1 GTF2IRD1 SLC2A10 ATAD1 NSD2 NFIX EXOC6B COL6A2 IFITM5 MYL2 DHODH FBXL3 EXTL3 SLC12A2 TNNT3 TELO2 SLX4 CHST3 WNT5A DNASE1L3 SLC40A1 ADAMTSL2 GAS1 SMO RNF113A EFEMP2 METTL27 TGFBR1 MBTPS2 CDC6 ARID1B PIGL CLCN7 XYLT1 TNFRSF11B LMOD3 SLC6A9 AARS1 XRCC2 STAG2 MAP3K7 UBE3B COLEC11 PTEN SLC10A7 PKDCC ERCC3 ZMPSTE24 GPC3 HK1 DONSON CHRND DSE TGDS FKRP AFF3 TRPS1 FANCC RFC2 APC GLRB UBE2T ALG9 RAD51 LRP4 MAP1B MAD2L2 C12orf57 TMEM251 KDELR2 NOG CTBP1 GNPTAB PRKACB SMC1A CLIP2 FANCE ABHD11 GPC6 DSTYK SNAP25 MYH3 LETM1 IFIH1 WNT7A BMP1 NLRP3 FUT8 THRA FANCI LAT2 STX1A AGRN CCDC8 SNRPB MASP1 FANCL EIF4A3 BPNT2 IL6ST LIMK1 PYCR2 CDC45 SF3B4 BAZ1B CLTCL1 PIEZO2 HACE1 DVL3 UFD1 FBN2 VAMP1 SMC3 PTRH2 FLI1 GTF2IRD2 GP1BB COL27A1 PAFAH1B1 OFD1 BICD2 POMT1 PITX1 FKBP6 CLDN4 VPS37D FANCG MLXIPL FBLN1 MAP3K20 CHST11 TCTN3 ORC6 BRIP1 FANCD2 FANCM PALB2 BGN HP_CONGENITAL_HIP_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_HIP_DISLOCATION SIX1 NGLY1 HACD1 GPC4 MKKS LONP1 CLTCL1 COL1A1 IARS2 SMAD6 PPP2R5D ACTA1 RYR1 PIEZO2 COL12A1 SLC18A3 TPM3 ATP6V0A2 KMT2D TBCD UBE3B MYH7 RECQL4 TBX15 KAT6B VAMP1 PLOD1 COL5A2 TPM2 SNAP25 DNAJC21 PTRH2 CHAT GPC3 PUF60 OBSL1 SELENON GEMIN4 COL13A1 USP9X ZNF469 WNT7A PAFAH1B1 THRA NSDHL OFD1 HSPG2 BICD2 MYL2 ATP6V1E1 KDM6A DHODH TELO2 AGRN CCDC8 COL3A1 FHL1 SNRPB FBLN1 SYT2 MYO9A PORCN CHRM3 MAP3K20 CUL7 YWHAE EYA1 ATP6V1A SLC25A1 KIF22 FLNA SLC5A7 MAP3K7 ALDH18A1 PYCR1 SHROOM4 ITGA7 HP_LIMITATION_OF_JOINT_MOBILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITATION_OF_JOINT_MOBILITY ERCC2 ATR RNU4ATAC LMBR1 GBE1 GTF2I HDAC8 LEMD3 TGM1 GNB2 SH3PXD2B SCN9A FBN1 COL12A1 TPM3 LMNA TRPV4 HPGD PTPN22 B3GALT6 RAB3GAP1 SCN1A SVIL TPM2 MMP23B COL1A1 SF3B4 SMAD4 TTN FGFR3 ANTXR2 VCP HFE BANF1 SPEN ALG1 MAN2B1 P4HA2 STXBP1 GABRG2 ACVR1 MYH3 MFN2 NOG GPHN HGD PITX1 MMP9 EZH2 ERCC1 CSGALNACT1 ADAMTS10 SFRP4 TBL2 RECQL4 COL2A1 PYCR1 DYSF ASPN SLC6A5 CLCF1 KRT1 AKT1 MATN3 HACD1 PSTPIP1 EMD RERE PRKCZ HSPG2 ALDH18A1 MAFB NALCN EMG1 SIK3 ERGIC1 COLEC10 RSPRY1 UNC80 IDUA ARSB ADCY6 NCF1 ATP7A FDFT1 ASXL1 BMPR1B COL11A2 GLRA1 F8 GUSB DNAJC30 PDGFRB MYLPF COL9A3 PIK3C2A SUMF1 SLC26A2 SETBP1 MMP2 GNS FGF9 CD96 COL6A3 FGFR2 BCL7B OPA3 OCRL PTPN11 RAD21 LTBP3 ITGA7 PTH1R SPEG LMX1B COLQ B3GAT3 SMAD6 SCN2A CAPN3 SELENON GNE ANKH GSC ELN CD244 CIITA KIF22 ADAMTS2 SHOX MECOM ANO5 NIPBL EIF4H OCA2 ABCA12 FLNA RAB18 IL10 HRAS MMP13 PLP1 ZBTB20 TOR1A UBE3A HERC1 FHL1 FUZ NOD2 SETD2 TBX5 UBE4B ECEL1 BRD4 BUD23 HOXA11 VANGL1 GDF5 CISD2 TGFB1 SCARF2 GNAS PSMB8 CLDN3 SLC39A8 NPR2 LGI4 PTPN2 PTDSS1 SLC22A4 CNTNAP1 PIEZO2 COL6A1 TBX4 APC FBN2 CCN6 TBX15 KAT6B GPKOW ERLIN2 RYR1 ZMPSTE24 DDR2 SMC1A IDH2 DPYSL5 KRT83 USP9X ZC4H2 SLC29A3 STAG1 FKBP10 TONSL MACROH2A1 EXTL3 SKI ADAT3 CPT2 ESCO2 COL1A2 PLOD2 KCNK9 AGA B3GLCT NEK9 LAMB2 ERCC6 TMEM270 COL6A2 GLE1 PDPN MYH8 PRRT2 HS2ST1 EXT2 SALL4 SLC25A46 TRAPPC2 SLCO2A1 GTF2IRD1 ALDH3A2 POR RAI1 DEAF1 DKK1 IDH1 ZNHIT3 TYROBP ENPP1 DYM FLII RAB3GAP2 COMP CHRNG INPPL1 ATAD1 GNAI3 IFITM5 HGSNAT ITCH IDS MYL2 STX1B ADGRV1 SMC3 ACTB TELO2 CHST3 GLB1 GNPTG ERF BICD2 HNRNPDL TBC1D20 ACTG1 TMEM43 APC2 SLC40A1 GABRD NAGLU ADAMTSL2 ERCC8 METTL27 MAPK1 CBS LAMA2 TNFRSF11B SLC6A9 IRF6 LIFR MUSK STING1 PPP1R12A ACTA1 TREM2 MAP3K7 SPRTN ANKRD55 FGFR1 NIPA1 ALOXE3 CTNNB1 COLEC11 HLA-DRB1 LTBP2 PTEN NOTCH3 P4HTM SLC10A7 PKDCC PCNT PLOD1 BHLHA9 ADAMTSL4 TFAP2A SMARCB1 LUZP1 TGDS SYNE2 SHH RFC2 GABRA1 TNNT1 ACTG2 GLRB PNKD PHEX PTF1A FN1 TNNI2 GTPBP2 CD247 PLCB4 PRG4 GNPTAB NFKBIL1 GARS1 WRN CLIP2 SCN1B FZD2 RMRP ABHD11 TNNT3 SCUBE3 MYOT GJB2 CKAP2L NSD1 ALOX12B SYNE1 IL2RB PLA2G6 IL2RA MYH7 CRLF1 LAT2 DST STX1A KCNAB2 SCN4A KY PAX3 SNRPB PCYT1A MASP1 WFS1 HLA-B BGN LIMK1 IQSEC2 UBA1 MTX2 FLNC PIGY BAZ1B SUZ12 ADGRG6 SLC25A19 VPS33A PERP L1CAM MAF EXT1 CASZ1 PRDM16 BIN1 KIF1A HCN1 PNPT1 LARGE1 EXOC6B SGSH GTF2IRD2 MED12 ASPA PCDH19 STAT4 SGCA ERCC5 ATRX FKBP6 SRD5A3 CLDN4 FLNB VPS37D MLXIPL MECP2 MAP3K20 MVK NDE1 MYBPC1 PLOD3 MBTPS2 GPC6 PPP2R3C EED EPG5 WNT7A TRPV3 HP_LIMITED_ELBOW_EXTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_ELBOW_EXTENSION SF3B4 CLCF1 LMX1B NPR2 TBX5 FGFR3 B3GALT6 MATN3 FZD2 RMRP PCNT DYM FBN2 RSPRY1 EXOC6B MED12 STAG1 NIPBL TONSL ITCH FLNA HDAC8 ESCO2 MMP13 COMP ATP7A COL2A1 CRLF1 POR KCNK9 FLNB FBN1 COL9A3 RNU4ATAC GPC6 BGN PPP2R3C EZH2 CSGALNACT1 FGFR2 SFRP4 MAPK1 OPA3 HP_JOINT_HYPERMOBILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_HYPERMOBILITY ATP7A COL11A1 A2ML1 KMT2E CCDC32 NF1 GTF2I B3GALT6 SATB1 SIX3 GNB2 TENT5A FBN1 COL12A1 ATP7B HNF1B KMT2D TRIP11 FGFR1 AMMECR1 MAN1B1 RBBP8 ANKRD55 SLC9A6 KANSL1 GORAB SLC6A8 TNRC6B COL1A1 DNAJC21 OBSL1 WDFY3 RPS6KA3 TNXB ZIC2 BRAF DHX30 ARF1 CBL PTHLH RYR1 XYLT2 DLK1 PYCR1 ZNF469 CDK13 SOS2 MEFV WASF1 EFNB1 OCRL ELN GRIA4 CENPE EZH2 CSGALNACT1 CHAMP1 ACTL6B KCNMA1 TBL2 SOS1 ALDH18A1 COL9A1 NGLY1 CREB3L1 HUWE1 IL2RB NRAS NOTCH3 BPTF C1R SLC35A2 NSDHL PYROXD1 PTPN23 TMTC3 OTUD6B UBR7 PIGP LOXL3 SHH COL1A2 RSPRY1 PPP1CB PHIP CDT1 STAT3 EXT1 PAX2 COL18A1 LOX ZDHHC9 ATP6V0A2 NCF1 CREBBP FLNA HPDL PHF6 PUF60 TAF1 COL3A1 DNAJC30 IL1RAPL1 GMNN PPP2R1A GDF5 CCDC8 BCORL1 NEDD4L DISP1 RRAS2 KDM4B AEBP1 BCR PSMD12 FKBP14 SLC26A2 FGF8 FBLN5 ANTXR1 COL6A3 BCL7B AGO2 SETD1A C1S LMNA JARID2 USP9X SEC24C PTPN11 B3GAT3 COMT COL5A1 ZMIZ1 JMJD1C C12orf57 TLK2 PTCH1 SET GDF11 ORC4 SIN3B ADAMTS2 SLC39A8 TNFRSF1A NOTCH2 HEPHL1 CUL7 EIF4H RIN2 HRAS VPS13B ATP6V1B2 NSUN2 SVBP RRAS VPS37A TANC2 IFT52 MED27 COL9A2 STIL BUD23 ARFGEF2 PLK4 CNOT3 HIRA TGFB2 GLI2 TCF20 CLDN3 ATN1 NPR2 COL6A1 TBX1 PIK3R1 PTDSS1 KAT8 PIGU TAB2 FGFR3 TGFBR2 DPYSL5 KDM1A WDR19 SATB2 KCNN3 DOCK3 MEG3 CFL2 SKI CANT1 KDM6A ARVCF KCNH1 NFASC FGD1 SEC24D PRDM5 RTL1 ERMARD RREB1 EIF5A P4HB TRMT1 EP300 CSNK2A1 TMEM270 TRAPPC4 COL6A2 MAMLD1 FBXW11 LRP5 SMS MADD MYT1L ENPP1 RIT1 GTF2IRD1 KRAS ABCC9 RAF1 PIK3CA KMT2A NTNG1 ATP6AP1 ATRIP PTPN2 SLC2A10 PIGG IL2RA IFITM5 LONP1 LMX1B GAN RAB3GAP1 PGM3 VAMP1 CHST3 SLC12A2 ADAMTSL2 IFT43 SPART B4GALT7 METTL27 TGFBR1 NFIX SEC23A CUL4B LMNB2 RNF13 HS2ST1 HDAC4 CDC6 FARSA TRAIP PUS7 SHANK3 PCNT SON TMCO1 P4HTM PKDCC PLOD1 ABCC6 ATR TOGARAM1 CTNND2 TGDS PLAA RLIM YY1 WNT1 SIN3A ACTL6A COMP TRPS1 RFC2 MAPK8IP3 MED12 ORC1 FLNB STAT4 PTEN PTPN22 CRKL IFT122 TET3 COL2A1 SEMA5A GTPBP2 MAP1B TGFB3 PALS1 KDELR2 NLRP1 SMOC1 ZNF341 COLEC11 CLIP2 UPF3B RMRP ABHD11 MTM1 SCUBE3 COL5A2 PIGT BMP1 LAT2 MBTPS2 STX1A TRIP12 NEPRO CEP152 DNMT3A MAPK1 DPYD ANKRD17 BCL11A LIMK1 PYCR2 CDC45 KDM6B BAZ1B XYLT1 SUZ12 POLR3A DDX6 UFD1 LIG4 MED13 MRAS KDM3B LZTR1 NTNG2 CENPJ YARS1 GTF2IRD2 GP1BB GNE CD247 FKBP6 NSD1 CLDN4 RASA2 HTT VPS37D MLXIPL HOXD13 COL9A3 EFEMP2 ORC6 EED WDR35 UBE3A BGN KAT6B HP_HIP_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIP_DYSPLASIA ATP7A MYT1L SIM1 THOC2 TRAPPC11 KMT2E CCDC32 HDAC8 CNOT3 B3GALT6 CCDC47 VIPAS39 PIGL HERC2 LMNA HNRNPK RBBP8 EBP NTNG1 KANSL1 ATRIP COL2A1 DDB1 MMP23B COL1A1 RERE SLC2A10 WDFY3 NSD2 PIGV NFIX SELENON IDS ANKRD11 SPEN SLC12A2 SNRPN ZNF469 BICD2 WNT5A TBX4 GRIA4 NIN ADAMTSL2 ATAD3A CENPE MBD5 PIGY ACTL6B NIPBL KCNMA1 PIEZO2 EP300 COL10A1 SH3TC2 WDR26 NGLY1 MATN3 IRX5 HUWE1 MAGEL2 RNF13 HS2ST1 BPTF USP7 PRKCZ TRAIP GLI3 ZBTB20 PUS7 PTPN23 PCNT HSPG2 UBR7 KCNK4 NDN UMPS ATR ARSB FARS2 SH3PXD2B FGFRL1 LUZP1 SMARCA2 EXT1 CPLX1 RLIM OCA2 ACTL6A COG6 TRPS1 CREBBP MAPK8IP3 HPDL PIGW TAF1 GDF5 CCDC8 BCORL1 SLC26A2 KDM4B SRCAP PSMD12 TET3 AGO2 SLC35A3 PGAP3 RAD21 PALS1 JARID2 RAB11B VPS33B CTBP1 SIL1 GMNN ZMIZ1 DVL1 USP9X UFSP2 WASF1 PGAP2 MECOM LETM1 ADAMTS2 ATP6V1E1 KCNAB2 TRIP12 HOXA11 SVBP SHPK CEP152 TANC2 PPP2R1A MED27 MMP13 UBE4B BRD4 SMC1A COMP PLK4 SNORD116-1 TCF20 SKI ATN1 PRDM5 KAT8 MYH7 DPYSL5 POLR3A PIGO DDX6 DVL3 MED13 KDM3B CASZ1 PRDM16 PWRN1 SMC3 NTNG2 PUF60 CENPJ MRPS25 EXOC6B WDR19 MKRN3 DOCK3 PWAR1 GLE1 COL1A2 UNC45A NPAP1 HTT TTN TNRC6B INPP5K FZD2 TRMT1 PPP2R3C TRAPPC4 SATB1 FBXW11 GABRD PDPN TRPV4 SNORD115-1 MADD HP_JOINT_SWELLING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_SWELLING PTPN2 SLC22A4 COL1A1 GNB2 NFKBIL1 ASAH1 CCN6 TRAPPC2 FGA SLCO2A1 ANKRD55 TP53 ANKH HLA-DRB1 IL1RN GPR101 ACP5 CD244 FGB IL6 SLC40A1 CIITA IL2RB IL2RA TNFRSF1A NOD2 CHEK2 STAT4 OTULIN ATP7B IL10 HFE LPIN2 F8 HPGD PTPN22 FGG DDR2 RB1 BTNL2 MEFV AIP COL5A1 HGD COL5A2 SYK OCRL MIF TNFRSF11B LACC1 CD247 HP_JOINT_STIFFNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_STIFFNESS ERCC2 SALL4 GTF2I HDAC8 LEMD3 SH3PXD2B CCN6 TRAPPC2 FBN1 GTF2IRD1 ALDH3A2 POR RAI1 TRPV4 DEAF1 PTPN22 RAB3GAP1 DKK1 IDH1 FLII TPM2 RAB3GAP2 COMP MMP23B COL1A1 SF3B4 INPPL1 ATAD1 SMAD4 HGSNAT ANTXR2 HFE BANF1 ACTB SPEN MAN2B1 P4HA2 COL2A1 GLB1 GNPTG TBC1D20 MYH3 ACTG1 TMEM43 MFN2 NOG GPHN NAGLU ADAMTSL2 HGD MMP9 IDUA EZH2 ERCC1 FLNA METTL27 NIPBL TBL2 RECQL4 PTH1R IRF6 SHOX ASPN SLC6A5 AKT1 MATN3 STING1 RNU4ATAC PPP1R12A RERE PRKCZ ANKRD55 HSPG2 CBS HLA-DRB1 PTEN NALCN EMG1 ERCC6 ADAMTSL4 ZMPSTE24 ARSB LMNA LUZP1 TGDS SYNE2 NCF1 RFC2 BMPR1B GLRA1 GUSB ACTG2 GLRB DNAJC30 PNKD SUMF1 SETBP1 PTF1A GNS SLC26A2 FGF9 BCL7B TNNI2 OCRL GTPBP2 CD247 RAD21 LTBP3 PRG4 NFKBIL1 FGFR2 WRN CLIP2 ABHD11 TNNT3 MMP13 SCUBE3 ELN CD244 SYNE1 CIITA ADAMTS2 IL2RB PLA2G6 IL2RA GDF5 EIF4H RAB18 IL10 LAT2 STX1A KCNAB2 PAX3 FUZ PCYT1A TBX5 UBE4B FGFR3 BRD4 BUD23 WFS1 HPGD HLA-B VANGL1 CISD2 LIMK1 IQSEC2 CLDN3 SKI NPR2 MTX2 PTPN2 BAZ1B SLC22A4 SUZ12 PIEZO2 FBN2 VPS33A L1CAM CASZ1 PRDM16 SMC3 IDH2 ADAMTS10 FHL1 KRT83 SMC1A SGSH GTF2IRD2 ASPA FKBP10 LTBP2 MACROH2A1 STAT4 ERCC5 PITX1 ATRX COL1A2 PLOD2 FKBP6 NSD1 CLDN4 AGA VPS37D MLXIPL MECP2 NEK9 NDE1 MYBPC1 TMEM270 EED GABRD PDPN EMD EPG5 PRRT2 HP_JOINT_LAXITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_LAXITY GNRH1 MRE11 C1R COL1A1 FMR1 RTL1 GTF2I LONP1 TENT5A PIK3CA CCDC47 AHDC1 GTF2IRD1 SLC18A3 HS6ST1 B3GALT6 MAN1B1 TRMT10A DDRGK1 KISS1 DDB1 COMP MCTP2 SERPINH1 PIGG COL1A2 AP4S1 EXOC6B ZNF469 STRADA FGFR3 PROKR2 FKBP10 DCPS SPTBN1 FBXL3 IFT43 FGD1 MSTO1 GALNS MAN2B1 TELO2 ATP6V0A2 SMAD3 KANSL1 AGA AP4E1 SIN3A FLNB RAC1 APC2 MYO9A WDR11 TRIP4 DPF2 PLAGL1 EED GATAD2B CSGALNACT1 FLNA EFEMP2 METTL27 MAPK1 TBL2 TUBB3 ARID1B XYLT1 EP300 MAP3K7 SLC6A9 SYT1 CHST14 SMARCB1 FARSB CHD7 GLB1 RYR1 KCNJ2 SATB2 GRIA3 TACR3 PYROXD1 DDX3X SEC23A PIGP FAT4 GMPPB PLOD1 RMRP NANS PIGS PPP1R15B MKS1 ADNP COL13A1 SOBP EN1 COL6A3 DSE SMARCA2 PROK2 TGDS NONO IFT122 NCF1 FGF17 DCHS1 ATP7A RFC2 HYMAI SMARCC2 PUF60 KCNJ5 DNAJC30 HNRNPK SYT2 SMARCD1 ATP6V1A COL5A2 SLC25A1 NOTCH2 BCL7B TBR1 ALG2 POGZ ARID1A FBLN5 TBL1XR1 SOX4 BICRA ARID2 RAI1 ALG14 COL12A1 RAB3GAP2 PDE4D USP9X COL2A1 SLC2A10 CLIP2 ORC1 ABHD11 IARS1 TCTN3 CDC45 WDR35 SRCAP UBR1 NSD1 SNAP25 EFNB1 CHAT SHOC2 KDM6A GNRHR ELN KIF22 SMARCE1 THOC2 ACAN EIF4H SPRY4 LAT2 STAC3 OTX2 ATP6V1E1 COL6A2 STX1A CREBBP AGRN HERC1 SETD2 FGF8 PORCN KISS1R COL5A1 SMARCA4 MLXIPL FGFR1 CANT1 MED12 BUD23 TGFBR1 NKAP LRP5 TGFB2 DLK1 SLC39A13 LIMK1 CLDN3 HNRNPH2 NSMF COL6A1 YY1 PMM2 BAZ1B DPAGT1 NPR2 AP4B1 SERPINF1 ADAMTS2 PAX2 GATA1 POLR3GL PIK3R1 VAMP1 TMEM165 C12orf4 B4GALT7 LTBP4 ERMARD GTF2IRD2 TGFBR2 STAG1 DUSP6 TONSL SKI P3H1 MEG3 GFPT1 FKBP6 AP4M1 CLDN4 VPS37D B3GLCT CBL DLG4 RET TMEM270 SLC5A7 TAC3 SOX11 CUL4B HP_ABNORMALITY_OF_THE_LIVER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_LIVER RNU4ATAC SLC25A15 RAG1 NEUROG3 PIGA ATP11C CCDC47 FLI1 ERCC8 UQCRB DPM1 RNASEH2A KLF1 FOS ABHD5 DCDC2 FECH MRPS28 LIPE STN1 STEAP3 IER3IP1 MYRF PIK3CA AGPAT2 CBL SPEN MRPL44 TPP2 MT-ND1 PC IL2RG PEX12 SOS2 SAMHD1 TSHB TREX1 POU1F1 MT-ND4 RHCE LMNA BCS1L SOS1 ACVRL1 MT-ND2 NGLY1 ENG NRAS GLRX5 ACADS HFE PRKCZ ATP8B1 C1S PEX6 MMAB PARN STAT6 SUCLG1 PDX1 MPL PEX5 MEG3 ARSB AHCY UQCRFS1 GLIS3 DYNC2I1 NCF1 HYMAI B9D1 ACAD9 TGFB1 PCCA GPD1 PPOX KCNN4 KIT RFT1 RRM2B RNASEH2C LIPA SETBP1 TPI1 DNAJC19 GBA GNS ABCD3 PKD2 CEACAM6 SLC2A1 HNF4A ARID2 SLC25A20 IYD GYPC FLT1 NEU1 CD247 FAH WDR35 DMPK FUCA1 FBP1 APC SPINK1 TRMT5 ELN ARID1B IL17RC TCIRG1 EIF4H TTC7A CEL ITCH EPB41 PCK1 TP53 PTPN22 B9D2 ANK1 LYST LDLRAP1 MED13L PSMB9 CA2 CD27 IDUA APOE RAG2 HADH SLCO1B1 ARL13B MKS1 HIRA PSAP MIF CLDN3 CEP290 DDRGK1 CYP7A1 TBX1 NPHP3 TMEM216 BLVRA FGFR2 HSPG2 DLL4 DZIP1L SDCCAG8 BTK CC2D2A SMPD1 HNF1A SMAD4 IRF5 KCNN3 PHKA2 SPTA1 NOTCH1 YARS2 MTTP SEC63 UNC45A DLD CLDN1 PPARG G6PC1 FAS TMEM270 ABCB4 RFXAP IL2RA RAD51C TRAPPC11 ABCC8 VPS45 MYD88 RIT1 LCAT EARS2 PHKB HLA-DRB1 COA8 FADD ATP6AP1 SLC25A13 ICOS IFT80 BBS12 TCTN3 PIEZO1 CD81 PRF1 GUCY2D PRKCSH KCNQ1OT1 UGT1A1 RFXANK IDS NDUFS1 PTEN KRT8 HBG1 HADHA SLX4 LHX4 FCGR3B TMPRSS6 SLC40A1 BBS5 JAK2 NCF2 SCO1 TMEM67 METTL27 CBS CLCN7 CD19 CAV1 PDGFRA IL2RB MARS1 ACTG2 TFAM ATRX NAGA SCYL1 RPS20 PIGS SLC37A4 TNFRSF1A CFTR MVK SLC25A19 PYGL DNAJC21 RFC2 AP3B1 ALG1 FASLG TRIM37 PIGM NCF4 AIRE VCP IGF2 UBE2T TTC37 PSMB4 IL17F CTRC SPTB IFT172 HBA2 PEX3 BOLA3 XK SCARB2 RBM8A FGA IFT140 SP110 HADHB PIGG COG7 PLIN1 RHAG KIF20A ENPP1 COX15 MMAA SLC35C1 SERPINA1 MET KMT2E RASGRP1 CLIP2 TNPO3 AP3D1 ABCG8 DUOX2 F5 RHBDF2 RMRP PKD1 TET2 LPL MRPS7 LETM1 CASP10 SMARCE1 MSH6 PSMB10 PEX26 TTC21B WDPCP GALK1 SMARCA4 PAX8 FANCL ARSA BTNL2 CPT2 KCNJ11 KRT18 NCKAP1L OFD1 ERCC6 CTNNB1 APOC2 AP1S1 LACC1 ALG6 EPCAM TNNI3 BICC1 MT-ND3 TNFSF12 DYNC2H1 ALG9 NDUFS6 PMS1 STX11 ABCB11 SNX10 LZTR1 HBB WT1 REST SGSH MT-ND6 GP1BB PEX19 GNE STAT4 B2M SDHB TTC8 HJV TCF3 PCK2 TERC TUFM ALG8 SPIB FANCD2 MCCC1 SLC4A1 MPV17 GTF2I ATP7B PKLR PEX1 ARL6 TNFRSF13B TERT SPOP TNFRSF11A NR1H4 CLPB SLC20A2 SPTBN1 DCLRE1C EFL1 TGFBR2 PMS2 POMC MFN2 ADK PLAGL1 LBR MT-TE GPC4 CPT1A RFWD3 CIITA PDGFRL OTUD5 IL7R CDIN1 GUSB RERE PEX16 GCLC TSC1 SAA1 LHX3 ACADVL RINT1 DKC1 FOXF1 MADD CEP83 CYP7B1 RPGRIP1L PEPD FOXRED1 CR2 SMARCC2 DNAJC30 CTLA4 CARS2 SUMF1 NPC2 FBN1 PEX2 SRSF2 NEK8 DCTN4 TXNDC15 MRPL3 PSTPIP1 PHKG2 SLC39A4 SEC24C LZTFL1 SPECC1L CDKN2A DHDDS EIF2AK3 PNPLA2 SLC5A5 LMNB2 NSMCE2 NAB2 ERCC1 BSCL2 GSTM3 UBR1 G6PD TNFSF11 GALM IRAK4 SEC23B ATP7A INPP5E FOXP3 CDKN1C FANCA SHPK STK11 DPAGT1 DHCR7 CASK UBE4B TBX19 SRP54 BAAT APOA1 CEP19 RHD CYBA ETFDH MTRR ABCC6 NDUFS2 MSH2 AUH INVS ABCC2 C2orf69 MPI FAN1 NFS1 MS4A1 SLC11A1 ZFTA WDR19 FANCF HPGD USP18 XRCC4 ARVCF MYC GDF2 PKHD1 ALG13 KCNH1 B3GLCT LIG4 NDUFAF1 PTPN3 IL18BP BBS2 COG2 HMOX1 RNF43 RBPJ PRKAR1A GTF2IRD1 SCNN1G KRAS NDUFS7 C1QBP HNF1B LRP5 UNC13D INPPL1 APOB C4B ASS1 LYZ LONP1 PCSK9 CASP8 EPB42 GLB1 CCDC28B NLRP1 SDHD TFR2 DYNC2I2 NKX2-5 POLG2 ALAS2 ETFA RFX5 TNFRSF13C RECQL4 ASXL1 TRMU ABCA1 NHLRC2 XRCC2 PROP1 KRIT1 SLCO1B3 TCF4 CYBB CPOX AXIN1 NOP10 CEACAM3 CD3E GALT CYBC1 CD28 FANCC IL17RA NDUFA6 SEMA4D NDUFB10 GPI HPD SMARCD1 GANAB ACADM MKKS CD40LG MAD2L2 SLC44A1 SOX4 AP1B1 RAB27A CALR DYNC2LI1 RABL3 COX4I2 MAN2B1 LAT2 MYPN NEUROD1 CIDEC JAK1 STOX1 CAVIN1 CYP19A1 SDHA GATA2 CD55 STXBP2 MUC5B LIMK1 GPIHBP1 ARHGAP31 CEP164 MMEL1 ADAMTS13 DUOXA2 MST1 SCNN1A CCND1 USB1 HAMP H19 MOGS SURF1 PRKCD ATP6AP2 LARS1 MT-TS1 GCGR INSR RASA2 NPHP1 FANCG SFTPC MT-TV MT-CYB GFM1 MMUT GPC3 XIAP NDUFB3 BRIP1 DNAJB11 GABRD TMEM126B BRCA2 DLK1 FANCM HSD3B7 PALB2 A2ML1 DIS3L2 STX1A IFNGR1 GAA BBS1 BMPER TJP2 CPA1 CTSA AGA IFIH1 COG8 SC5D INS SLC6A14 JAM3 STAT3 NHP2 ERCC4 HMGCL BBS9 CTBP1 ZAP70 ASL NDUFAF3 DOLK SEMA4A SCAPER ZNF699 CTCF ATPAF2 BRCA1 SLC7A7 COG4 AKT2 CDKN1B PIK3C2A CD79A RRAS2 XPR1 POU6F2 MYBPC3 COG5 NDUFS8 BCL7B GCDH NFKB1 EDNRA MLH1 PPP1R21 NFKB2 COMT SOCS1 COX5A MT-ND5 ALG2 IGLL1 HMGCS2 CYP27A1 IL1RN ANTXR1 SLC25A1 IARS1 MPC1 TRIP13 NEK1 JAG1 RRAS TINF2 MT-TK CCDC115 BUD23 TSHR PLEKHM1 OSTM1 DGUOK LPIN2 PSMB8 SLC39A8 PTPN2 PMM2 IQCB1 FANCB BAP1 RAC2 TMEM165 NDUFS4 IL6 ETFB IL36RN CFAP418 EXTL3 NDUFS3 PEX10 FAM111B TPO TRIM32 G6PC3 PDPN LTBP3 CASR CEP120 NLRP3 SLCO2A1 BCHE NAGS ESCO2 RAF1 SLC30A10 PRSS2 PDGFRB SBDS OCLN AKR1D1 PTPRC HEXB SLC11A2 NOTCH2 PEX14 ZIC3 IFT43 NELFA LRPPRC MECP2 BBS7 CD70 FLNC ALDOA IGF2R RBCK1 FARSB ACP5 SLC34A2 SPRTN FARSA VPS4A HMBS SON POLG MT-TW TNFSF15 HESX1 LUZP1 SF3B1 NDUFV1 CTSC ITK RAD51 GBE1 MAGT1 TKFC PEX13 ALDOB ARID1A TMEM237 TMEM107 ZPR1 VPS33B SLC2A2 GATA6 RIPK1 FANCE ABHD11 MMACHC PFKM NSD1 ACOX1 POLD1 FDX2 FANCI MT-TN BMP2 CORIN IL12RB1 TMEM199 NBAS HK1 SKIV2L KLF11 HBG2 NDUFAF8 ALMS1 GNPTAB APPL1 VPS33A UFD1 MRAS LDLR IGHM WRAP53 UROS PCCB GTF2IRD2 TRHR SLC9A3 BPGM ADA POU2AF1 DOCK6 VPS37D DHFR SAR1B PRSS1 SLC22A5 RMND1 PCSK1 VHL RTL1 HOXD13 MMP23B MEFV UCP2 TCTN1 CTNS GALNS EWSR1 HBA1 TRIM28 ABCG5 AGL SCNN1B MLH3 SOX10 RFX6 TBL2 MCM4 NPHP4 CLEC7A COG1 NPC1 SLC26A9 SLC26A4 TSC2 RELA TRAF3IP1 FCGR2A PALLD FGFRL1 DPM2 TNNT2 HAVCR2 CPLX1 GNMT FH NDUFB9 TYMP BBIP1 ADAR JAM2 TALDO1 PTPN11 IL12A TMEM70 NDUFAF4 JMJD1C PRPS1 PDGFB NDUFAF2 NDUFV2 SLC29A3 TRAF3IP2 KDM5C SLC10A1 RUNX1 ATP6V1B2 NOD2 SETD2 NDUFAF5 TSFM HNRNPA1 UROD MICOS13 KCNQ1 HSD17B10 CLCA4 NDUFA1 MYORG USP9X NUBPL CTSK TRPV6 CTC1 GCK RREB1 AMACR BBS4 ERBB3 SOX11 NSD2 GDF1 BMPR1A VIPAS39 TMEM231 EOGT COX14 HGSNAT IFT27 ATAD3A ARG1 DNASE1L3 GALE GPR35 SNX14 CSPP1 APC2 NAGLU VPS13A DPF2 SYK PARS2 IFT74 JAK3 SMARCB1 PEX11B TF BLK ANKRD55 TNFRSF1B PAX4 RNASEH2B LRRC8A CHD7 GNAS TOGARAM1 ANKS6 ADA2 INTU IFNG LMBRD1 TKT IFT122 SDHC COG6 DDOST PIK3R1 NPM1 SLC25A4 SLC51B MED25 LYRM4 ADAMTSL2 CDAN1 ASAH1 BTD SH2D1A KIF3B SLC17A5 MT-ATP6 CD79B DAXX RPGRIP1 CNOT1 XYLT1 NDUFB11 KCNAB2 SFTPA2 NDUFA11 TG FERMT3 AGGF1 MLXIPL PGM1 TARS2 IL21R KPTN STAT1 HNRNPA2B1 SKI MTX2 BAZ1B HSD17B4 BLNK POLR3A MT-TL1 SLC16A2 RTEL1 CASZ1 HYOU1 PRDM16 PTRH2 TIMMDC1 YARS1 TWNK CD96 FKBP6 CLDN4 PNPLA6 TCTN2 CD3D PSMG2 ACAT1 CP BBS10 HP_CIRRHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CIRRHOSIS PHKG2 PPARG RRM2B IL12A AP1B1 PIGA HBB AMACR ENG RBPJ PIK3CA EOGT ATP7B PEX1 GBA TTC37 TNPO3 TJP2 KIF3B F5 TERT APOE TALDO1 BSCL2 FAH ATP6AP1 FOS ABHD5 SLC30A10 PHKA2 FECH APC TRMT5 TERC AKR1D1 POLG ASS1 PKHD1 CAVIN1 HFE INPP5E ACVRL1 NHP2 JAK2 CASP8 ITCH AGPAT2 IFT43 KRT8 TP53 BMP2 SFTPA2 MET RPGRIP1L IL12RB1 LIPA JAG1 ARG1 SKIV2L HSD3B7 TINF2 GPR35 CCDC115 SLC40A1 TFR2 TREX1 MPV17 ABCB4 IL21R LBR DGUOK KRT18 MUC5B NR1H4 IGF2R PDGFRL CC2D2A ATP8B1 ARHGAP31 NPHP3 FARSB NGLY1 GLRX5 UROD TCF4 AP1S1 SERPINA1 MARS1 DLL4 MMEL1 TFAM HAMP AXIN1 PARN RTEL1 TMEM67 CYP7B1 DKC1 ABCB11 SMPD1 NOP10 MST1 TNFSF15 ALMS1 WRAP53 FCGR2A IRF5 USB1 YARS1 CAV1 CFTR SMAD4 MPI ATP6AP2 COG4 NOTCH1 GALT HJV SLC25A13 COG6 PYGL MTTP TGFB1 SEMA4D POU2AF1 CTC1 SLC7A7 DOCK6 CTNNB1 NPM1 GDF2 SFTPC GBE1 TYMP BCS1L SCARB2 SPIB CD40LG DCDC2 ALDOB HP_HEPATIC_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATIC_FIBROSIS PLIN1 TMEM107 LZTFL1 CC2D2A IL12A HBB RBPJ NOP10 TMEM231 EOGT PEX1 MET BBS1 ARL6 TTC37 DPM1 TNPO3 KIF3B SDCCAG8 IARS1 FADD WDR35 ATP6AP1 PHKA2 DCDC2 BBS12 TCTN3 ALG9 PKHD1 GBA NHP2 TRAF3IP1 RPGRIP1 IFT27 MKS1 NPHP1 INPP5E ABCB4 DYNC2I1 TCTN1 IFT172 RPGRIP1L B9D2 IL12RB1 SCYL1 NEK1 IFT80 WDPCP DLL4 AGL CCDC28B GPR35 CSPP1 HJV SLC40A1 DYNC2I2 IFT140 BBS5 BBS7 TMEM67 DGUOK LIPA OFD1 CTNNB1 DYNC2H1 NPHP4 IFT74 CEP290 PMM2 SKIV2L ARHGAP31 NPHP3 IQCB1 TMEM216 CEP164 PHKG2 BBS9 INVS TCF4 AP1S1 ASL MMEL1 MPI DOLK HAMP DZIP1L SLC25A13 ACADVL RINT1 SCAPER MST1 TNFSF15 ALMS1 IRF5 CYP7B1 ANKS6 GLIS3 CFAP418 WDR19 TTC8 NOTCH1 IFT122 PYGL B9D1 MTTP SEMA4D INSR POU2AF1 UNC45A DOCK6 GPD1 PTRH2 PNPLA6 TCTN2 ASAH1 ABCD3 BBS4 BBS2 TRIM32 BBIP1 MKKS SPIB SLC51B CEP19 NEK8 TXNDC15 BBS10 TALDO1 TMEM237 HP_CHOLESTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOLESTASIS SLC4A1 ATP7A PEX6 NEUROG3 ATP11C HBB BCS1L SPTB VIPAS39 FLI1 PRKAR1A HNF1B PKLR EARS2 PEX1 TJP2 CPA1 NPHP3 SC5D ABCC2 ATP6AP1 PRSS2 SPOP SLC25A13 DCDC2 PIEZO1 PAX8 NR1H4 PRF1 PKHD1 PEX26 OCLN AKR1D1 LYZ NOTCH2 UGT1A1 PEX14 SPTBN1 IER3IP1 EPB42 KRT8 HADHA PEX3 LHX4 STXBP2 FCGR3B TMPRSS6 POMC ARG1 PEX10 GALE IL2RG PEX12 GPR35 IFIH1 SAMHD1 TSHB APC2 ADK POU1F1 NKX2-5 POLG2 HADHB MPV17 ETFA RFX6 HBG2 RHCE ABCB4 LBR PARS2 ALDOA PEX16 SLCO1B3 ABCB11 TRMU ATP8B1 FARSB RHAG PHKG2 PROP1 CDIN1 GLRX5 TCF4 ANK1 STX11 CPOX PEX5 TFAM NPC1 SAA1 SLC26A4 CYP7B1 LHX3 DUOX2 RINT1 TNFSF15 CEP83 HESX1 RNASEH2B ZNF699 CTCF DPAGT1 GNAS CFTR PALLD ANKS6 BRCA1 GLIS3 AP1B1 PEPD ATP7B JAK2 COG6 ALDOB SEMA4D CDKN1B GPI CTRC NPC2 GALT FH PEX19 TPI1 ABCD3 ADAR SLC51B FGA NEK8 CYP27A1 SP110 PIGA COG7 SLC44A1 CDAN1 SLC2A1 VPS33B IL12A IYD AMACR RNASEH2C CDKN2A BRCA2 GYPC EPB41 EIF2AK3 PEX11B SLC5A5 CLDN1 KMT2E TTC37 PRPS1 TNPO3 GCLC TSHR IARS1 UNC13D LPL PHKA2 F5 WDR35 MMACHC UBR1 PFKM G6PD SPINK1 ACADVL RNASEH2A GALM NSD1 SEC23B TREX1 SLC10A1 TRAF3IP1 RABL3 COX4I2 SMPD1 IFT172 SLC30A10 IL12RB1 LIPA JAG1 TG SHPK LYST HSD3B7 DHCR7 SETD2 CASK CCDC115 GALK1 TBX19 IFT140 PGM1 BAAT APOA1 SLCO1B1 ARL13B NBAS DGUOK KRT18 RHD AP1S1 ALG6 HK1 PEX2 ETFDH CYP7A1 EPCAM HMGCL HSD17B4 BLVRA SLC16A2 MMEL1 TP53 RNU4ATAC DZIP1L ADAMTS13 DUOXA2 MST1 SMAD4 ETFB IRF5 PEX13 ALG8 YARS1 TRHR B2M SPTA1 ATP6AP2 BPGM INSR POU2AF1 UNC45A KCNN4 TPO SERPINA1 DHFR PTPN3 GFM1 ASAH1 PRSS1 IL18BP RAB27A KRAS SPIB PALB2 PCSK1 CASR HP_HEPATIC_FAILURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATIC_FAILURE NDUFS4 COQ2 CYC1 PEX6 IL12A SLC2A2 NHLRC1 ENG MT-ND5 EIF2AK3 ATP7B PEX11B SH2D1A HLA-B PTPN22 FECH HADHA TTC37 TNPO3 TJP2 PEX1 TERT EPM2A IARS1 FAH SC5D MRPS7 F5 RYR1 UBR1 MT-ATP6 CPT2 DAXX PEX26 TERC AKR1D1 F13A1 INPP5E HFE MT-ND3 NHP2 ITCH PCK1 P4HA2 MT-TT PEX3 IFT172 RPGRIP1L IL12RB1 SCYL1 MRM2 BTNL2 LIPA JAG1 PEX10 MT-ND1 HSD3B7 PEX12 GPR35 HADH MT-TK CCDC115 POLG2 HADHB MT-ND4 MPV17 BAAT IL21R OSTM1 NBAS MEFV DGUOK CPT1A NR1H4 ACVRL1 DLD TRMU CC2D2A MT-ND2 SLC25A15 TCF4 MT-TL1 PEX16 MMEL1 PEX5 ACTG2 TFAM ATRX PARN HLA-DRB1 PORCN NPC1 RTEL1 POLG CYP7B1 RINT1 DKC1 SMPD1 COX16 NOP10 MST1 PEX2 MT-TW TNFSF15 ALMS1 WRAP53 CACNA1S IRF5 PEX13 USB1 MT-ND6 PEX19 SMAD4 MPI COG4 LARS1 JAK2 IFT122 ACAD9 ALDOB PEX14 TINF2 SEMA4D POU2AF1 CTC1 SLC7A7 IKZF1 PCK2 TMEM67 NPM1 GDF2 GALT F13B FH MT-TV GBE1 SERPINA1 GFM1 OTC ASAH1 IL18BP ABCD3 AMACR SLC25A20 CEP164 XIAP SPIB SP110 GBA HP_HEPATOCELLULAR_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATOCELLULAR_CARCINOMA PDGFRL IL12A BMPR1A SLC2A2 HBB MLH1 FAH UROD TCF4 PIK3CA SERPINA1 ATP7B HFE SPRTN MMEL1 SLC37A4 RASGRP1 HMBS TNPO3 SEMA4A AXIN1 TJP2 PMS1 F5 KRAS SLC25A13 RPS20 ABCB11 CPOX MST1 TNFSF15 APC CASP10 IRF5 FAN1 AHCY FAS MSH6 PRKCD JAK2 CASP8 TGFBR2 PYGL TP53 BMP2 MET PMS2 IL12RB1 SEMA4D JAG1 POU2AF1 ABCB4 PPOX GPR35 IGF2 FASLG CTNNB1 MLH3 EPCAM G6PC1 MSH2 SPIB IGF2R HP_MACROVESICULAR_HEPATIC_STEATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROVESICULAR_HEPATIC_STEATOSIS CYP7A1 NDUFAF1 RRM2B CPT2 TYMP MPV17 MICOS13 POLG EARS2 TRMU VPS33A MTX2 HP_PERIPORTAL_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPORTAL_FIBROSIS DGUOK LIPA PKHD1 SLC51B ACADVL ALG9 DZIP1L HP_HEPATIC_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATIC_CYSTS NPHP3 IFT122 EXTL3 TTC21B JAK1 SEC63 PKD2 BICC1 PKHD1 ALG9 TSC1 PKD1 GANAB DNAJB11 TSC2 WDR19 ALG8 LRP5 OFD1 HP_BILE_DUCT_PROLIFERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILE_DUCT_PROLIFERATION PHKG2 POLG NPHP3 FARSB HSD17B4 WDR35 DCDC2 TMEM67 ABCB4 MICOS13 CEP290 MKS1 TMEM216 CC2D2A RPGRIP1L HP_MICRONODULAR_CIRRHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICRONODULAR_CIRRHOSIS PDGFRL TREX1 POLG ATP6AP2 CASP8 NGLY1 ABHD5 KRT8 TP53 APC MET SLC30A10 PIK3CA DGUOK KRT18 ARG1 CTNNB1 AXIN1 IGF2R KIF3B TALDO1 HP_MICROVESICULAR_HEPATIC_STEATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROVESICULAR_HEPATIC_STEATOSIS POLG NGLY1 ACAD9 MPV17 MRPL44 DNAJC19 LRPPRC UNC45A BCS1L YARS1 VPS4A TFAM CARS2 TRMU HP_X_LINKED_RECESSIVE_INHERITANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_X_LINKED_RECESSIVE_INHERITANCE SH3KBP1 PIGA GJB2 ATP11C BRWD3 RAB39B PLP1 EBP EIF2S3 CLCN5 FANCB AMMECR1 IKBKG COL4A6 GPC4 ATP6AP1 GPR143 CFP TSPAN7 IL2RG CLCN4 CRX PDE6G IDS ATP6AP2 PGK1 TAF1 ZIC3 PRPS1 GLA NAA10 NSDHL F9 FGD1 TRAPPC2 IRS4 MID1 POF1B UBE2A OCRL DMD OPN1LW ROM1 MECP2 SLC16A2 MID2 DDX3X AIFM1 ARX FLNA MBTPS2 MAGED2 FHL1 GATA1 OTUD5 TSR2 SYP F8 EMD ZC4H2 CYBB OTC HPRT1 NDUFA1 SSR4 IGBP1 WAS PAK3 GPC3 MED12 AR PQBP1 RBM10 EDA SLC6A8 TAFAZZIN OPN1MW ATP7A CLIC2 VMA21 IL1RAPL1 HS6ST2 POLA1 FGF16 GK GPR179 MAGT1 OGT BCORL1 MTM1 SYN1 ALAS2 ANOS1 CD40LG FTSJ1 AVPR2 CHRDL1 USP9X XIAP ABCD1 L1CAM SLC9A7 AIPL1 ATRX SH2D1A SLC9A6 HCFC1 MAOA USP27X KIF4A AP1S2 DLG3 LRAT G6PD ARSL OPHN1 ARL6 FAM50A KDM5C PTCHD1 BCAP31 THOC2 UPF3B GRIA3 FOXP3 CCDC22 ATP2B3 NONO RLIM RPGR DNAAF6 ABCB7 NYX CASK TIMM8A BTK BGN UBA1 NKAP FRMPD4 FRMD7 CFAP418 STAG2 TLR7 CLDN2 TEX11 CACNA1F RPL10 GPRASP2 RS1 PHF8 PHKA1 MAMLD1 NR0B1 SMC1A RBP3 PHF6 PHKA2 OFD1 CFAP47 CLRN1 IGSF1 TMLHE DKC1 MSN CNGA1 ALG13 FGF13 KLHL15 AFF2 ARHGEF9 LAS1L NDP IGF2 POU3F4 SMS LAGE3 GJB6 RBMX STS CUL4B IQSEC2 HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_HAND RPS28 HOXA13 RPS15A COLQ AK9 RPL27 PDK3 NGLY1 ADA2 TK2 TBX5 TRPV4 PNPLA2 RPL18 GNE FUZ MFN2 POLG KANSL1 LDB3 FGD4 HARS1 CHRND RPL35 FBXW11 TIA1 RPL35A COL13A1 MYH7 CAV3 VCP FBXO38 GATA1 NEFL CHRNB1 RYR1 AAAS RPL11 SCN4A ACTA1 RPL15 TSR2 RPS19 CHRNA1 RAPSN RPS7 BSCL2 NEB RPS27 SLC39A13 ALS2 REEP1 DOK7 SH3TC2 FLNC TRAPPC11 MORC2 SLC25A21 GARS1 MAP3K7 CHRNE SLC52A3 GJB1 RPS20 KLHL9 RPL5 RPL31 SALL4 CHCHD10 FGFR3 FGFR2 MPZ MUSK RPS29 FLNA DYSF RPS10 RPS26 FXN LRP4 FGF10 RPL26 PMP22 SVBP SPG11 DCTN1 BICD2 HINT1 GDAP1 LAMB2 PLOD3 AGRN STIM1 RPS17 GMPPA RPS24 COMP SQSTM1 HP_X_LINKED_DOMINANT_INHERITANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_X_LINKED_DOMINANT_INHERITANCE AMELX FMR1 SRY PDK3 CCNQ GJB1 USP9X COX7B NDUFB11 HSD17B10 IKBKG ACSL4 COL4A5 AMER1 SMC1A G6PD EFNB1 KDM6A CASK ZC4H2 FLNA PHEX CLCN4 NHS RPS6KA3 NSDHL BCOR FHL1 HDAC8 NAA10 DIAPH2 PLS3 GPR101 CHM ATRX HCCS MSL3 ALG13 NEXMIF PDHA1 HDAC6 EBP SLC35A2 PORCN GDI1 ALAS2 CDKL5 DDX3X MECP2 SMPX LAMP2 SYN1 RNF113A UBQLN2 FRMD7 EDA OFD1 HNRNPH2 WDR45 IQSEC2 HP_HETEROGENEOUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HETEROGENEOUS MCCC1 NHLRC1 DCTN1 KCNJ1 NQO2 WT1 PIK3CA TP53 SUFU SLC12A1 LITAF KIF7 NOS3 FOXC1 KCNJ18 MTMR2 PEX1 IGF2 ATM HNF1A COMP KCNQ1 EDNRB CDH1 COL4A3 ADGRV1 INSR SH3TC2 MPZ ANK2 SLC25A38 AAGAB SLC25A4 ACVRL1 HPS1 FGF14 CASP8 APP TPM3 MT-ND4L MET GDF6 YARS1 GPC3 MID1 TSC2 COMT PITX2 MRPS16 TNFRSF11A XRCC3 EYA1 CACNA1S TMEM67 COL4A4 ERCC8 BARD1 ABCB4 KCNE1 EDARADD PTPN22 ATL1 IGF2R PRX PALB2 PDGFRL DHH CLCNKB DAOA EDAR MYO7A ALG10B KRIT1 AKT1 GABRG2 NPHP1 SOX10 RP1 NEFL AXIN1 AHI1 CACNA1A NOD2 POLG TPM2 SBF2 GPC4 KRT16 HSPB8 DYSF DSP IFNG MT-ATP6 MT-ND1 EDA PSEN1 RPGRIP1L ESR1 ZMPSTE24 MECP2 MPO KCNH2 TMEM216 CHEK2 EDN3 BRIP1 HADH PMP22 CTNNB1 NPC2 CTSC GDAP1 EGR2 MAPT DSG2 PTCH1 MITF SELENON AVPR2 FBLN5 H19 LAMC2 ENAM MTHFR HLA-DQB1 NEFH SYN2 ABCC8 HTR2A GLUD1 RB1CC1 IL6 ORC1 KRT83 DNM2 KRT17 IQCB1 MT-ND5 MBTPS2 BRCA1 BSND PPM1D APC LAMA3 PHB CHAT MCCC2 NLGN3 BRCA2 SCN5A HFE NSDHL CACNB4 GCK SNAI2 ITGB4 MT-TN HSPB1 IRF6 MLPH APOL4 MSX2 NPHP4 MT-ND6 SIX3 CHI3L1 NLGN4X ACTA1 SPTA1 MT-CYB CENPJ HMMR MT-ND4 EPM2A BSCL2 FRMD7 ELN HCN2 ERCC6 JPH1 PTCH2 KIF1B KRT81 KRT86 SIX1 COL17A1 RAD54L HCRT KCNJ11 SMAD7 IHH APOL2 SNRPN CAV3 CFTR MYH7 CREBBP COL4A5 FRZB CLCN7 FGFR1 TNNI3 KCNQ2 LMNA MT-CO3 WNT3 SURF1 TGFB3 SOD1 DRD3 MT-TS1 RTN4R CACNA1F HLA-DQA1 AGPAT2 PRKAG2 CHRNA2 RAD51 POMT2 RYR1 CRELD1 DNAI1 SLC22A18 USH1C LAMB3 VSX1 EP300 ITPR3 KRAS ATP1A2 KCNE2 HLA-B MT-ND2 PLAU CLCNKA PRPH HP_MULTIFACTORIAL_INHERITANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIFACTORIAL_INHERITANCE HLA-DRB1 AGTR1 PPARG GJB3 HLA-DQB1 NLGN3 ADRB3 F2 HLA-C COL2A1 SNRPN MUC7 CYP3A5 GDF3 IL6 HLA-G ABCG8 SLITRK1 NOD2 BCR SCN5A FRZB UCP3 ADRB2 TP53 BAX AGRP ECE1 SHANK3 GJB2 SDC3 APOL1 GHRL PRKCH NBN IL13 GABRA2 BRCA2 GNB1 CCL11 IRF6 PDCD1 NUP214 PTGIS TAL1 PAX4 ENPP1 NOS3 TNF HLA-DQA1 DYNC2H1 GJA1 NEK1 GJB6 ADH1C ALOX5AP F5 FLT3 CFH GDF6 BMP4 SERPINH1 HNMT CST3 CARTPT GNB3 ADH1B ADH5 NLRP1 BRCA1 PLA2G7 SLCO1B1 A2ML1 SMCHD1 HTR2A SCGB3A2 ADD1 HLA-B AGT SLCO1B3 STOX1 ALOX5 NR0B2 POMC TAL2 NLGN4X HP_MITOCHONDRIAL_INHERITANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MITOCHONDRIAL_INHERITANCE NDUFS4 MT-TS1 MT-TN MT-TT MT-ND1 MT-TF CHKB MT-ND4L MT-TL1 TRMU MT-TK MT-ND6 MT-TP MT-ND5 MT-CO2 MT-CYB MT-TV MT-TI MT-ATP6 MT-TC MT-ND4 MT-TS2 MT-TW MT-CO3 BCS1L MT-ND2 FDX2 MT-TQ SURF1 MT-CO1 HP_SOMATIC_MUTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOMATIC_MUTATION RB1 NRAS SH3GL1 PIK3CA ARMC5 NQO2 WT1 MSR1 TP53 HRAS WWOX KRAS MAD1L1 AR STK11 IGF2 ATM MPL SH2B3 AKT1 DCC CDH1 SUFU FGFR3 NF1 ARHGAP26 CASP8 FLT3 PTPRJ MET NUP214 FASLG AIP ZFHX3 CCND1 GPC3 CREB1 SMARCB1 SSX1 DLC1 KLF6 PICALM XRCC3 GNB1 BARD1 KIT EP300 PDGFRA MSH6 POU6F2 AXIN2 IGF2R BCL10 EXT1 OPCML TAL2 PALB2 PTEN NUMA1 PDGFRL MAP3K8 DNMT3A CTNNB1 CHIC2 APC MSH3 IRF1 PRCC FLCN PIGA ASCC1 AXIN1 BCR SMO PAX6 GPC4 C1GALT1C1 RHOA TSC2 CBL LPP LZTS1 JAK2 NR4A3 MTOR IDH1 SMAD4 NBN GNAS EWSR1 ERBB2 MYD88 ESR1 BRCA2 MINPP1 RAD54B SSX2 SF3B1 PRKN CHEK2 BRIP1 RARA CASP10 GATA2 FOXO1 RUNX1 TFE3 IL6 DICER1 NEK9 HDAC4 PPP2R1B PTCH2 FGFR1 ADA RNF6 ERCC6 H19 SRC AURKA PAX3 RB1CC1 TGFBR2 BRCA1 PPM1D MUTYH PHB LIG4 NPM1 TLR2 TAL1 ETV6 SLC35A2 PAX7 PIGT BUB1 EGFR MCC ABL1 CDC73 HMMR MXI1 TSC1 TERT BRAF KIF1B RAD54L TAF15 ASXL1 BUB1B BAX RPS14 NF2 SRGAP1 PTPN12 CBFB CEBPA MLH3 TET2 PLAG1 RAD51 CTHRC1 SLC22A18 ASPSCR1 PLA2G2A MLLT10 MYC CYP2A6 CALR PTPN11 FGFR2 HP_ABNORMALITY_OF_THE_CALF_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CALF_MUSCULATURE PLIN1 PPARG POMT1 TTN TRAPPC11 POMT2 SGCB MATR3 MAP3K20 FRG1 SGCD RYR1 CAPN3 SLC25A1 LMNA LARGE1 DNM2 POMGNT2 BIN1 KLHL9 PNPLA2 DPM3 POMK FBN2 ANO5 UNC45B FKRP SACS MYH7 FLNC PLEC CAV3 SGCA AAAS GMPPB DMD POPDC3 CHCHD10 SGCG WASHC5 LTBP4 TRIM32 AR PMP22 HINT1 VPS13A LIMS2 POMGNT1 CRPPA FKTN DES FHL1 CIDEC DAG1 NEB MYF6 DHX16 LAMA2 MTMR14 TRPV4 GMPPA KCNA1 DYSF TCAP HP_HEPATOSPLENOMEGALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATOSPLENOMEGALY RNU4ATAC SLC2A1 GNPTAB GALK1 HBB RNASEH2C CDKN2A BRCA2 FGFR2 RASGRP1 IFNGR1 DPM1 RNASEH2A RAB27A GCLC RTL1 KIF3B CD247 CALR DDRGK1 MVK IARS1 TALDO1 NPHP3 LPL SLC25A13 RAG2 PRF1 PKHD1 TNFSF11 ZAP70 UNC13D TET2 GBA SLC29A3 TREX1 IL2RB CBL IL2RA STEAP3 RABL3 HEXB TCIRG1 GLB1 IDS ITCH RUNX1 PTPN22 MAN2B1 SRSF2 NEU1 CTSA JAK1 IL7R GPR35 SNX14 JAK2 IFIH1 FERMT3 CA2 SAMHD1 CCDC115 RAG1 CD27 SC5D CD70 RHCE KPTN STXBP2 PLEKHM1 LIPA STAT1 STAT3 NCKAP1L RHD JAK3 PEX2 PTPN2 CAV1 RHAG GLRX5 TCF4 COG1 CYBC1 LYST FARSA ANKRD55 RAC2 TP53 VPS33A DZIP1L SCYL1 CLCN7 MPL MST1 RNASEH2B ALMS1 ZNF699 SMAD4 MEG3 FCGR2A PALLD BRCA1 CFTR MOGS ADA2 GNE IFNG STAT4 HAVCR2 LBR CD3E LPIN2 COG4 AP3B1 TGFB1 SEMA4D SLC7A7 IDUA ABCA1 SLC4A1 ALG9 GBE1 ASAH1 CD3D COG5 NLRP3 XK ADAR KRAS COG2 RBM8A PRKCD DLK1 SP110 PALB2 PSTPIP1 ASXL1 HP_ABNORMALITY_OF_THE_SHOULDER_GIRDLE_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SHOULDER_GIRDLE_MUSCULATURE TPM2 SPEG TRPS1 NEB COLQ AK9 SGCD ALG14 SGCB COL12A1 EYA1 TK2 TBX5 CAPN3 PAX1 TPM3 ALX3 PNPLA2 ATP6V0A2 GNE POLG FLNA ALG2 MYBPC1 MT-TE DMPK ABHD5 GDF11 MYOT FKRP RAF1 CHRND DNAJB6 SYNE1 OBSL1 LMNA COL13A1 ANO5 CUL7 MYH7 SEPTIN9 MYL2 VCP MATR3 NEFL CHRNB1 ALX1 CCDC8 SCN4A ACTA1 BICD2 HNRNPDL MYPN TRIM32 CHRNA1 DNM1L TMEM43 TTN POLG2 RAPSN RYR1 CRPPA PAX3 PLXND1 SGCG CSGALNACT1 SMCHD1 OPA1 FHL1 DOK7 PTPN11 TNPO3 DYSF SH3TC2 LGI4 DPAGT1 MYH2 HACD1 MYMK FRG1 MAP3K7 CHRNE GALC PYROXD1 TBX3 C19orf12 BRAF GMPPB KBTBD13 BIN1 VWA1 SALL4 SELENON COL6A3 MUSK POGLUT1 SGCA GFPT1 SYNE2 POMT2 FBN1 TWNK SQSTM1 LRP4 GYG1 FLNB RRM2B MAP3K20 LAMB2 REV3L SLC25A4 KCNJ2 AGRN COL6A2 RBM8A PSAP KLHL41 TRPV4 EMD TGFB3 COL6A1 ITGA7 HP_ABNORMALITY_OF_THE_FOOT_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FOOT_MUSCULATURE MYF6 RYR1 MYH7 HNRNPDL MTMR14 GNE DNM2 BIN1 KLHL9 BSCL2 HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_LOWER_LIMBS PLIN1 PPARG LMX1B TTN POMT2 SGCD SGCB CAPN3 LMNA KIF5A GNE SPAST DKK1 POMGNT2 MT-ATP6 BIN1 SYNJ1 ABCD1 LDB3 FKRP DNAJC6 VAMP1 DARS2 SYNE1 SACS ANO5 MYH7 CAV3 NEFL AAAS DMD POPDC3 CHCHD10 SGCG CLCN1 HNRNPDL LTBP4 TRIM32 TMEM43 GMPPB PMP22 TRPV4 ADSS1 VPS13A CRPPA RASA1 DES DAG1 BSCL2 NEB MYF6 DHX16 LAMA2 VCP REEP1 TCAP DYSF POMT1 TRAPPC11 RYR1 MATR3 ATP13A2 MAP3K20 FRG1 SLC25A1 LARGE1 DNM2 KLHL9 PNPLA2 DPM3 POMK FBN2 UNC45B FHL1 ZFYVE26 FLNC PLEC DYNC1H1 SGCA SYNE2 WASHC5 KIF1A AR SRY PODXL HINT1 LIMS2 POMGNT1 FKTN CIDEC MTMR14 GMPPA KCNA1 EMD ANO10 HP_ABNORMAL_ABDOMEN_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ABDOMEN_MORPHOLOGY TNFRSF13B PPARG RNU4ATAC A2ML1 SLC25A15 RAG1 PIGA DIS3L2 BUB1B CCDC47 STX1A FLI1 IFNGR1 GAA ERCC8 UQCRB DPM1 RNASEH2A KRAS HADHA KLF1 DDRGK1 FOS ABHD5 DCDC2 HNF1A SH2B3 CBL MRPS28 LIPE STEAP3 BRAF AGPAT2 FAS PEX3 CTSA SMAD3 TET2 TPP2 AGA MT-ND1 SEC63 PC IL2RG PEX12 SOS2 IFIH1 SAMHD1 AKT1 BACH2 SC5D MT-ND4 RHCE SLC6A14 LMNA JAM3 SOS1 STAT3 HBB HMGCL MT-ND2 NGLY1 PHKG2 NRAS GLRX5 ZAP70 ASL MKS1 NDUFAF3 DOLK FBP1 MMAB PARN STAT6 SUCLG1 MPL TMEM67 PEX5 ZNF699 THPO MEG3 GPC3 ATPAF2 ARSB JAK2 IKZF3 BRCA1 GLIS3 PIK3CA SLC7A7 COG4 HYMAI TGFB1 PCCA GUSB GBA AKT2 GPD1 UROD PIK3C2A KCNN4 PEX19 RRAS2 RFT1 ERAP1 RNASEH2C LIPA XPR1 OTC TPI1 CFAP410 MYBPC3 COG5 GNS HLA-DRB1 ABCD3 NDUFS8 GCDH NFKB1 EDNRA CPOX CEACAM6 SLC2A1 HNF4A PPP1R21 SLC25A20 NFKB2 BUB1 COMT GYPC SOCS1 COX5A MT-ND5 EPB41 IL23R NEU1 ALG2 HMGCS2 FAT4 CD247 FAH FUCA1 F5 IL1RN CALR ANTXR1 SLC25A1 TCIRG1 TTC7A MPC1 ITCH PCK1 PTPN22 RRAS LIG4 SLC34A3 ANK1 LYST USB1 MED13L MT-TK PSMB9 CA2 CCDC115 CD27 IDUA APOE RAG2 ARL13B PLEKHM1 OSTM1 DGUOK HIRA LPIN2 PKLR MIF PSMB8 PTPN2 TBX1 CC2D2A NPHP3 TP53 FGFR2 IL10 CCND1 BAP1 DLL4 RAC2 DHCR24 GALM DZIP1L PSAP CLCN7 SMPD1 TMEM165 NDUFS4 HAVCR2 SMAD4 IL6 ETFB IRF5 CTLA4 KCNN3 PHKA2 EXTL3 NDUFS3 SPTA1 CPT2 NOTCH1 YARS2 RUNX1 PEX10 MTTP TRMU TBXAS1 DLD CLDN1 FAM111B G6PC1 EIF5A RAB27A G6PC3 LTBP3 IL2RA ABCB4 ASXL1 TRAPPC11 ABCC8 GPC4 ATRX VPS45 BUB3 NLRP3 MYD88 RIT1 LCAT UBAC2 SLCO2A1 SLC37A4 NAGS BCL6 EARS2 PEX1 KIT PHKB RAF1 COA8 ATP6AP1 SLC30A10 SLC25A13 NDUFS7 ICOS PIEZO1 CD81 PRF1 PDGFRB SOX18 GUCY2D SBDS PEX26 OCLN AKR1D1 ATM PRKCSH KCNQ1OT1 PTPRC HEXB C4A IDS PEX14 STAT4 NDUFS1 PTEN HBG1 TNFSF11 GATA1 CD19 CD70 NCF2 SCO1 FLNC FSHR ALDOA PEPD TLR4 PEX16 MADD RBCK1 ATP8B1 CAV1 MUSK FARSB TSC1 SLC34A2 IL2RB FARSA MARS1 VPS4A DCLRE1C TFAM NAGA SCYL1 CBS PNP POLG UMPS MVK GSN WT1 MT-TW TNFSF15 PIGS PYGL TNFRSF1A TFAP2A CFTR ATP7B WDR35 GNE SLC25A19 DNAJC21 AP3B1 ALG1 FASLG TRIM37 PIGM NCF4 IGF2 SLC4A1 TTC37 SF3B1 PSMB4 NDUFV1 GALT SPTB ITK ALG9 GBE1 HBA2 MAGT1 TKFC BOLA3 XK SCARB2 PEX13 IL7R CASP8 RBM8A NDUFAF1 FGA SP110 ALDOB COG7 KIF20A ENPP1 SLC2A2 MMAA NCF1 RASGRP1 SLC35C1 SERPINA1 RIPK1 MET TNPO3 GCLC AP3D1 ABCG8 RHBDF2 RMRP LPL MRPS7 ALG8 COX10 CASP10 ACOX1 POLD1 FDX2 MT-TN CR2 COL3A1 PHYH BMP2 PSMB10 IL12RB1 BTNL2 HLA-B HMOX1 KCNJ11 NCKAP1L ERCC6 PNPLA2 SPP1 CTNNB1 APOC2 LACC1 HK1 SKIV2L HBG2 TNNI3 NDUFAF8 ALMS1 GNPTAB PEX7 PEX6 MT-ND3 TNFSF12 RHAG IL12A VPS33A NDUFS6 UFD1 MRAS STX11 ABCB11 SNX10 LZTR1 WRAP53 UROS BCL2 PCCB TAPT1 SGSH MT-ND6 GP1BB B2M SLC9A3 HJV BPGM ADA POU2AF1 DOCK6 TUFM DHFR MCOLN1 SLC22A5 MMUT ERCC4 FAM111A SPIB RMND1 TREX1 GALK1 FCHO1 RTL1 TERT TNFRSF11A NR1H4 PKHD1 CCR1 MEFV UCP2 SLC20A2 CAVIN1 SPTBN1 HFE EFL1 NHP2 PIK3R1 CTNS GALNS MAN2B1 RPGRIP1L EWSR1 APOA1 HBA1 INSR AGL MFN2 SUMF1 LAT SOX10 MPV17 PLAGL1 LBR MT-TE CPT1A MCM4 PRKAG2 CYBB OTUD5 ABCA1 CDIN1 COG1 EPB42 NPC1 SAA1 SLC26A9 ACADVL RINT1 DKC1 FCGR2A CYP7B1 PALLD WDR1 DPM2 TNNT2 FOXRED1 TINF2 CASR ACADM GNMT NPC2 FBN1 NDUFB9 PEX2 SRSF2 ADAR PRKCD NEK8 DCTN4 MRPL3 JAM2 TALDO1 PSTPIP1 SLC39A4 XIAP SEC24C PTPN11 TMEM70 CDKN2A BCR DHDDS BRCA2 EIF2AK3 NDUFAF4 JMJD1C NAB2 ERCC1 IARS1 BSCL2 GSTM3 PDGFB NDUFAF2 G6PD NDUFV2 SEC23B SLC29A3 NOTCH2 NIPBL INPP5E ATP6V1B2 CDKN1C DPAGT1 IRAK1 NOD2 FMO3 CASK NDUFAF5 SRP54 TSFM BAAT RHD CYBA ETFDH MOGS ARL6IP6 ABCC6 TSC2 NDUFS2 AUH ABCC2 C2orf69 KCNQ1 MPI CLCA4 NBEAL2 LRBA NDUFA1 MYORG ABL1 MS4A1 SLC11A1 NUBPL ESCO2 HPGD PMM2 CTSK USP18 TRPV6 XRCC4 ARVCF SLC40A1 CTC1 ALG13 KCNH1 RREB1 IL18BP AMACR COG2 ERBB3 PALB2 GDF1 RBPJ EOGT PRKAR1A COX14 C1QBP LRP5 UNC13D INPPL1 KLRC4 TERC FOXP3 ASS1 HGSNAT ABCA12 GLB1 LYZ NLRP12 STXBP2 ATAD3A TRNT1 ARG1 DNASE1L3 GALE GPR35 NLRP1 SNX14 SDHD NAGLU VPS13A POLG2 ETFA SYK TNFRSF13C PDGFRA JAK3 ALPK1 NHLRC2 TCF4 CYBC1 ANKRD55 NLRC4 MRPS22 TNFRSF1B NOP10 RNASEH2B CHD7 TOGARAM1 ADAMTS3 MPIG6B IL12A-AS1 CEACAM3 ADA2 IFNG CD3E TKT IFT122 COG6 CD28 NDUFA6 SEMA4D NDUFB10 GPI NPM1 CD40LG PLVAP ADAMTSL2 CDAN1 ASAH1 BTD SAMD9L PEX11B SH2D1A KIF3B PIK3CD SLC17A5 MT-ATP6 DAXX DYNC2LI1 RABL3 COX4I2 XYLT1 NDUFB11 MYPN CIDEC IFT172 NDUFA11 JAK1 HSD3B7 FERMT3 CARD11 AGGF1 IFT140 GATA2 CD55 KPTN STAT1 GPIHBP1 MTX2 KIF1B ARHGAP31 HSD17B4 MT-TL1 CCBE1 GP1BA MMEL1 ALAS2 HAMP RTEL1 CEP57 HYOU1 TNFRSF4 MST1 PTRH2 TIMMDC1 YARS1 SURF1 ATP6AP2 LARS1 MT-TS1 CD96 RASA2 TRIP13 MT-TV MT-CYB GFM1 CD3D PSMG2 ACAT1 NDUFB3 TMEM126B DLK1 IRF8 HP_METATARSAL_SYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METATARSAL_SYNOSTOSIS HOXD13 FGF9 SLC26A2 FBLN1 POR SALL1 HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_THIGH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_THIGH ADSS1 LMX1B SYNE2 NEFL SGCD FHL1 RYR1 ANO5 SYNE1 LMNA HNRNPDL REEP1 EMD TMEM43 MYH7 TRPV4 DYNC1H1 HP_SOMATIC_MOSAICISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOMATIC_MOSAICISM DICER1 GNAS SMO NRAS HRAS RHOA FGFR1 FGFR3 ADA PIK3CA SLC35A2 KRAS HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_UPPER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_UPPER_LIMBS SEPSECS RPS28 HOXA13 TRPS1 RPS15A SGCD PDK3 EYA1 ADA2 TRPV4 TPM3 ALX3 KIF5A RPL18 CHCHD10 MYBPC1 MFN2 MT-TE KANSL1 LDB3 ABHD5 CAPN3 HARS1 RAF1 RPL35 DNAJB6 FBXW11 OBSL1 LIPE RPL35A COL13A1 MYH7 HMBS MYL2 VCP FBXO38 GATA1 CHRNB1 RYR1 ALX1 FKRP SCN4A ACTA1 BICD2 HNRNPDL CEP126 LMNA TSR2 TMEM43 TTN POLG2 INF2 PAX3 GMPPB PLXND1 GIPC1 CSGALNACT1 CRPPA MYF6 NDRG1 RPS27 LAMA2 FHL1 ALS2 DOK7 TNPO3 DYSF SH3TC2 PAX1 HACD1 MORC2 SLC25A21 FRG1 MAP3K7 CHRNE GALC PYROXD1 C19orf12 MYMK BRAF TK2 RPS20 KLHL9 RPL5 KBTBD13 GARS1 CYP7B1 ANO5 NEFL TPM2 CPOX POMT1 BIN1 PLEC FGFR2 MPZ MUSK POGLUT1 RPS29 RPS10 SYNE2 RPS26 FXN SQSTM1 LRP4 HSPB1 NEB RPL26 REEP1 COL12A1 SVBP PPOX TSEN2 CHRNA1 RRM2B HINT1 GDAP1 SALL4 SLC25A4 KCNJ2 RBM8A KLHL41 PTPN11 MTMR14 GJB1 RPS24 ALG2 COMP TGFB3 ITGA7 SPEG LMX1B COLQ AK9 RPL27 ALG14 SGCB SMAD6 NGLY1 TBX5 PNPLA2 ATP6V0A2 MTPAP GNE POLG FUZ FLNA DMPK GDF11 MYOT FGD4 CHRND SYNE1 TIA1 CUL7 SEPTIN9 CAV3 MATR3 AAAS RPL11 CCDC8 VPS37A RPL15 MYPN TRIM32 RPS19 DNM1L ADSS1 RAPSN RPS7 KAT6A SGCG BSCL2 SMCHD1 OPA1 SLC39A13 CPLANE1 NEFH SPG7 TCAP FLNC LGI4 DPAGT1 MYH2 CLDN11 TRAPPC11 SLC52A3 TBX3 DNM2 RPL31 VWA1 SELENON FGFR3 COL6A3 HK1 SGCA GFPT1 POMT2 FBN1 TWNK KY FGF10 TSEN15 GYG1 PMP22 FLNB SPG11 DCTN1 MAP3K20 LAMB2 TSEN54 PLOD3 REV3L AGRN COL6A2 PSAP STIM1 RPS17 TSEN34 GMPPA EMD COL6A1 HP_Y_LINKED_INHERITANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_Y_LINKED_INHERITANCE USP9Y BPY2 DDX3Y CDY2A TBL1Y VCY RBMY1A1 DAZ3 DAZ1 PRY2 KDM5D RPS4Y2 PRY HSFY1 CDY1 SRY DAZ2 HP_ABNORMALITY_OF_THE_UPPER_ARM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_UPPER_ARM RSPO2 ATP7A TMEM251 LMX1B MYSM1 LONP1 TRPV4 SGCD SMAD6 MORC2 GDF5 LMBR1 AGPS POLR3A FGFR2 GNPTAB TBX5 DONSON FGFR1 IHH DYM ZIC3 TBX3 FANCB TBX15 RNU4ATAC POR FZD2 SUCLG1 CYP26B1 SALL4 NOG GPC6 FHL1 GSC SYNE1 LMNA WNT7A SHOX GNAS TONSL MACROH2A1 SYNE2 IFT122 PITX1 FLNB PEX5 STX16 RBM8A PTDSS1 FGF9 HNRNPDL SNRPB KIAA0753 TMEM43 SLC26A2 SRCAP COL2A1 GNPAT ALG12 EZH2 TGFB1 RECQL4 EMD TCAP FLNA HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_UPPER_ARM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_UPPER_ARM LMX1B SYNE2 SGCD FHL1 SMAD6 MORC2 SYNE1 LMNA HNRNPDL EMD TMEM43 TCAP HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETAL_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETAL_MUSCULATURE LMX1B HACD1 B3GALNT2 SIL1 HBB MYMK ACTA1 POMT2 TBX5 MAP3K7 GLE1 TPM3 COLEC11 ATP6V0A2 PHGDH FKRP TBX3 ALG9 FBN2 SALL4 SELENON POMGNT1 POMGNT2 CHRND COL4A1 CAV3 POMK MYL2 FLNA TPM2 CHRNA1 DAG1 LARGE1 FKTN CRPPA PIEZO2 POMT1 MAP3K20 PSAT1 PMP22 INPP5K PLXND1 REV3L RXYLT1 RBM8A CHRNG TRPV4 B4GAT1 ITGA7 HP_CONTIGUOUS_GENE_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONTIGUOUS_GENE_SYNDROME WT1 KANSL1 PAX3 PAX6 RPS14 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_MUSCULATURE_OF_THE_UPPER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_MUSCULATURE_OF_THE_UPPER_LIMBS MAP3K7 RBM8A FLNA SALL4 LMX1B HP_DELAYED_CLOSURE_OF_THE_ANTERIOR_FONTANELLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_CLOSURE_OF_THE_ANTERIOR_FONTANELLE ATP6V1E1 FAM111A SMC3 BANF1 CTSK ATP7A IGF2 ATP6V0A2 TBCE POLR3A H19 ASPA ADAMTS2 SEC23A AMER1 ZIC1 ATP6V1A MMP2 RUNX2 FLNA MED12 ANKRD11 RPS6KA3 NLRP3 PEX19 PEX14 HP_FRECKLING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRECKLING NF1 ABCB6 ERCC8 TP63 BAP1 KRT5 ERCC3 POT1 BRAF ERCC5 ERCC2 TYRP1 POGLUT1 TERF2IP UVSSA TYR PPP1CB MITF RAF1 XPA CDKN2B CDH3 MSH6 HPS1 NBN MC1R GPR143 ERCC4 TERT XPC CDKN2A MGMT SPRED1 OCA2 CDK4 DDB2 POFUT1 ACD SOX18 KAT6A PSENEN PRKAR1A MAP3K7 ERCC6 PTPN11 MLH1 HP_SUBCUTANEOUS_NODULE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBCUTANEOUS_NODULE MDM2 COL1A1 ENPP1 HMGA2 NRAS LEMD3 UBAC2 ASAH1 COL5A1 IL23R PTEN KIF11 IDH1 COL5A2 MEFV KIT RAF1 CCR1 KLRC4 COL7A1 C4A ANTXR2 ECM1 CYLD FAS TNFRSF11B KRAS BTNL2 HLA-B TEK GJB2 ACVR1 TSC2 FERMT3 OCRL IL12B BRAF SDHD TLR4 MLX DACT1 PTPN11 KLLN PTH1R INSR MMP14 PIK3CA GLA SDHC AKT1 MYSM1 SDHB IL10 APC IL12A PDGFB CTNNB1 SEC23B PORCN CDK4 NOTCH3 TSC1 IDH2 ABCC6 STAT4 FUS IFNG IL12A-AS1 HLA-DRB1 FGFR2 COL3A1 DDIT3 PDGFRB SALL1 IARS2 ERAP1 NAGA GNAS FBN1 APOE MMP2 USF3 TNFRSF11A MC1R FGFR1 HP_BILATERAL_PTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_PTOSIS TBC1D24 PAX6 OPA1 NGLY1 COLQ ODC1 ACBD5 DNM1L PACS1 DGUOK MAF NRAS DBH DMPK COL2A1 INS NDUFS2 AUTS2 NOVA2 WT1 IGF1 ADNP GCK SETD5 AEBP1 RNASEH1 PLEC ABCC8 NDUFAF3 KDM1A STAC3 RRM2B SOS1 CERT1 KCNH1 GSN PAH NDUFB8 SCO2 RAD21 KCNJ11 SURF1 PDX1 STAT3 LAMB2 TK2 PHOX2A TUBB3 KIF21A ATP6V1B2 HP_CARPAL_BONE_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARPAL_BONE_HYPOPLASIA TRPV4 RSPRY1 NANS GNPTAB KIF22 RBM8A SALL4 ALDH18A1 EXOC6B EIF2AK3 DYM COMP HP_BROAD_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_FINGER NXN MYT1L KMT2E CCDC32 GPC4 KCNH1 KNSTRN AMMECR1 RTL1 GLI3 ROR2 NTNG1 EXOSC2 GNAS GATA4 INPPL1 WDFY3 PIGQ OTUD6B FGFR2 CHST3 SCN1B TBCK SLC12A2 RBM8A FLNB NOG SUMF1 GRIA4 PRKD1 EZH2 EED GATAD2B KCNA1 ACTL6B PIGP KCNMA1 EP300 ZNF141 XYLT1 COL10A1 MEIS2 HUWE1 GNAO1 HS2ST1 SATB2 SALL1 BPTF MAP3K7 CDKL5 FGFR1 PUS7 PTPN23 CASK UBR7 SMO DVL1 MEG3 GPC3 ADNP MED12 DVL3 FGFR3 SIK1 GJA5 RLIM IFT122 MEGF8 ACTL6A MAPK8IP3 WNT5A HPDL PUF60 BCORL1 PTEN KDM4B PSMD12 FGF9 FLNA AGO2 COL2A1 SLC25A22 PALS1 JARID2 USP9X DMXL2 BICRA RAB23 B3GAT3 TRIM8 SMOC1 ZMIZ1 SNIP1 SCN2A WASF1 HOXD13 NEUROD2 IFIH1 ACAN PNKP GJA8 TRIP12 CREBBP NSUN2 NEPRO SVBP SMARCA2 TANC2 B3GALT6 MED27 TBX5 FBN1 ALX4 CNOT3 PIK3CD DACT1 TCF20 PYCR2 SETD5 GDF5 NPR2 KAT8 DPYSL5 SUZ12 PACS1 BMP2 DDX6 ARX LIG4 MED13 NTNG2 ADAMTS10 MSX2 SIAH1 WDR19 RNU4ATAC NHS DOCK3 EXTL3 BMPR1A NSD1 HTT TWIST1 TNRC6B TRMT1 RPS6KA3 TRAPPC4 KIF22 SATB1 FBXW11 G6PC3 DLK1 STXBP1 MADD HP_FAILURE_TO_THRIVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FAILURE_TO_THRIVE SLC25A15 RAG1 LAMB3 SELENON CACNA1A HERC2 TPM3 MT-ND6 DPM1 B3GALT6 VPS51 STT3A PEX13 KANSL1 ERBB2 FOS WNT2B NDP CYP11B2 TCTN3 DLL1 RTEL1 LMNA TDGF1 MBTPS2 SMAD4 DOLK MRPS28 AVPR2 TERT CDK19 EGFR DHCR24 AQP2 SLC13A5 BRAF NFE2L2 AGPAT2 SPEN MT-TS2 PEX3 MAP2K1 PUS3 SIX3 BAAT NIPAL4 ZEB2 NEXMIF CHRNA3 MT-ND1 ACVR1 IL2RG PEX12 ZSWIM6 TSHB MDH2 COG8 POLG2 ERCC8 MT-ND4 CNKSR2 FOXH1 KCNA1 FGF8 BCS1L GABRB2 ALDH18A1 PHOX2B MAP2K2 NTRK2 SLC46A1 TMEM70 MT-ND2 SDHC NGLY1 HACD1 TRAK1 PHKG2 IL2RB SEMA3C FIG4 MCCC2 CTBP1 ZAP70 ASL ACADS GPT2 USP7 GLI2 PRKCZ ACTB CDKL5 NDUFAF3 CYP27B1 OTUD6B SLC1A2 MMAB SUCLG1 NDN SHH NALCN PEX5 ARCN1 ATP6V0A4 NDUFA8 HESX1 PLP1 VAC14 ZNF699 STAR LIG4 CTCF SFTPB ATPAF2 CDT1 RARB PEX7 LCK AHCY EHMT1 TACO1 AK2 LAMC2 SIK1 SLC7A7 COG4 OSGEP NCF1 MRAP BTK ERCC4 FDFT1 ACAD9 TGFB1 PCCA GRIN2D TGIF1 KIF15 LHX4 RARS2 BRCA1 NDUFV2 RFX5 CD79A PEX19 RFT1 RRM2B MT-TW SETBP1 SNRPN ATP6V1A CLCNKA DSP CD96 NDUFS8 BCL7B MTRR SGO1 ZFP57 PTCH1 ALOXE3 PPARG GCDH NFKB1 DISP1 UBA5 SLC5A1 DMXL2 DNM1 BICRA UBE3B CYP11A1 NFKB2 ORAI1 COMT PREPL PIGB COX5A MT-ND5 COG1 IGLL1 PGAP1 CD247 FBXL4 FAH SCNN1A JAK3 SIL1 IL1RN ORC4 TRMT5 PET100 SHOC2 ELN MAGEL2 GCK NODAL IARS1 SERAC1 GLI1 EIF4H NDUFA12 GALC HRAS NDUFS2 ITCH SNAP29 NDUFS3 JAG1 VPS37A CYFIP2 NUP62 COPB2 SLC34A3 FGFR1 PARN MED13L MT-TK PSMB9 H19 BPTF POLR1B PDX1 BRD4 RAG2 AARS1 BUD23 SUGCT DNM1L SCN3A SDHD NDUFA13 PNPO DGUOK HIRA SNORD116-1 LPIN2 PSMB8 DACT1 CLDN3 HNRNPH2 SLC39A8 EEF1A2 FLNA COL6A1 PMM2 TBX1 IGHM RIPK1 MYH7 TIMM50 TBX4 STXBP1 HSPG2 TIMMDC1 DLL4 SMO GALM WWOX TCF4 TMEM165 HYMAI NDUFS4 PWRN1 AIMP1 ERMARD STAG1 MKRN3 PEX16 MT-TF PWAR1 ABCA3 ADAT3 ATP6V1E1 CYP17A1 NOTCH1 YARS2 ATP7A AHDC1 POLR1C SLC25A13 SREBF1 PPP3CA MTTP AMN UNC45A MRPL12 ABCC8 VPS13B POMP CDH23 EIF5A TMEM270 GAA G6PC3 PDPN ECHS1 SUCLA2 RFXAP IL2RA KMT2C UBR1 SIM1 SAR1B SLC25A3 CERS3 VPS45 HIBCH KCNJ1 TRAPPC2 POLR3A PTEN MBL2 DEAF1 NAGS ACD EARS2 PEX1 DNMT3B DYNC2LI1 SLC25A24 CD3D PIK3CA COA8 SC5D KMT2A ATP6AP1 ICOS CHRNG CD81 PRF1 CD3G SBDS PEX26 GRM7 OCLN PIGQ STAT5B PTPRC RTTN CSF2RB RFXANK NUP214 MYL2 ZIC3 NDUFS1 GLYCTK ZIC2 TCOF1 HADHA FGD1 ABL1 ATP6V0A2 NELFA GNB1 LRPPRC GPR161 BMP4 MECP2 HPDL WDR11 CYP2R1 MGAT2 ECE1 FTO SCO1 CLMP METTL27 NFIX LIPA CBS CDC6 AUH MAP3K7 CELF2 DLD RBCK1 AARS2 CD19 SH3TC2 ATP8B1 FARSB STING1 HCN1 POMC MARS1 CUL3 EPG5 IL21 SON DCLRE1C TFAM NFU1 PNP MT-CO1 IGHMBP2 NADK2 CPS1 POLG MPDU1 NACC1 CARMIL2 CYB5A SLC39A4 PDE6D XPA ELAC2 SLC37A4 PYGL CFTR EN1 LUZP1 TGDS COL6A3 GJA1 AGTPBP1 ATP7B TAFAZZIN OCA2 KCNJ6 TMEM216 DNAJC21 ARV1 RFC2 XPC FUCA1 SLC4A1 EBP USP8 SLC3A1 NDUFAF4 ATP1A3 STAT4 PSMB4 NDUFV1 FGF13 MT-ATP6 MTRFR KCNA2 DDB2 FOXP1 ALG9 GBE1 FMR1 TKFC ALG12 NOTCH2 USF3 PSMD12 CPLANE1 IL7R ORC6 CASP8 KRT17 NDUFAF1 PDHA1 SP110 PGM3 HADHB SLC25A22 PIGG ALDOB TGFB3 COG7 VPS33B ENPP1 SLC2A2 CLCNKB MMAA MT-TL1 STAG2 RASGRP1 SLC35C1 KCNB1 GATA6 RPL5 HCCS CLIP2 EVC SCN2A RMRP ABHD11 DKC1 MRPS7 BSND ALG8 MMACHC COX10 MYH3 LETM1 ACOX1 NEUROD2 LMBRD1 BCAP31 NNT MT-CO2 CAMKMT MT-TN NDUFAF6 CENPT CR2 RET STX1A PSMB10 VDR GABRA5 CA12 CREBBP NRTN GRIA4 NDUFA10 CACNA1B SCO2 SLC34A1 KCNJ11 STAT3 DDOST ACO2 ASXL1 ERCC6 IQSEC2 PYCR2 ALG6 EDN3 EPCAM MCEE NEUROG3 NDUFAF5 SDHB DHDDS NDUFAF8 MT-CO3 CTNS GNPTAB SCN8A MT-ND3 TNFSF12 PLAGL1 PACS1 NDUFS6 UFD1 TRIO RNU4ATAC YWHAG STAMBP ABCB11 ERCC3 SNX10 SYNGAP1 SMC3 FGF12 NDUFA4 IGF1 DYNC2I1 CSPP1 PCCB SMC1A GTF2IRD2 ATP5F1A GP1BB DYRK1A ARMC5 ADA TCF3 PIEZO2 PTDSS1 COL7A1 DOCK6 VPS37D BRF1 NUS1 NDUFB8 SURF1 CDON MAP3K20 RYR1 SLC39A13 PHGDH ACSF3 SZT2 STRADA MMUT HBB CSF2RA FAM111A NDUFAF2 AKT1 ALPL PKP1 PCSK1 RIT1 KAT6B KRT6A MCCC1 LMNB1 HMGA2 PEX6 HPD GTF2I HDAC8 GALK1 AGPS KRAS FBN1 COL12A1 SLC12A1 KRT6B ADAR TNFRSF13B NDUFB11 ANKRD55 MIPEP MMP23B SYNJ1 MCTP2 CUBN SH2B1 ROBO1 GDNF ANTXR2 CAVIN1 SPTBN1 EFL1 BANF1 INSR BMPR1A PEX10 SKIV2L OCRL SCNN1B LAT ADK MPV17 GNPAT CLTC PIGP MMADHC TBL2 NR1H4 MEGF10 MCM4 EP300 CIITA PYCR1 KLLN STRA6 NKX2-1 GABRA2 PDHX ATP1A2 CARS1 GBA RERE SLC35A2 CASK SMARCC2 IGF2 SSR4 PPP1CB SPATA5 WDR4 UNC80 FCGR2A CYP7B1 RELB FGFRL1 TWIST2 DPM2 PEPD LIPT1 SLC22A5 SLC19A3 FOXRED1 SLC6A8 CPLX1 TGM1 TPM2 RAI1 KIAA0586 CASR EPRS1 COL4A5 DNAJC30 GMNN PUS1 CARS2 SALL1 FH NDUFB9 PEX2 ADH5 ACTL6B POLA1 TASP1 MRPL3 TLL1 MC2R RAD21 TALDO1 RECQL4 ITGA7 SLC10A2 SEC24C HLA-DQB1 POLR1D TRIM8 IKBKB PSAT1 JMJD1C PRPS1 ORC1 ERCC5 ERBB3 PHKA2 KDM5C ASNS KMT2D GYS2 PNKP ETHE1 LAMA3 FOXP3 SMPD1 SEC31A COX15 TCN2 DPAGT1 RNF13 DHCR7 HADH ACTA1 UBE4B PARS2 ABCD1 STIL GTPBP3 SRP54 ABCA12 TBL1XR1 ARFGEF2 AASS BSCL2 NDUFS7 SCNN1G MYOD1 KIF7 ABCC6 AKR1D1 TCIRG1 KRT14 HSD11B2 MICOS13 C2orf69 MPI EVC2 PLAA LRBA NDUFA1 ASCL1 B4GALT7 RBM10 LTC4S SDHA LEMD3 MS4A1 NUBPL SKI SLC1A3 SFTPC ERCC1 KDM6A TBR1 PEX14 MT-TQ ARVCF NFASC SARS2 KIAA0753 COX7B TINF2 PRDX1 TTN GATM NSMCE3 RREB1 RAC2 CSNK2A1 AMACR NR3C2 PSAP NSD2 SMARCA2 GDF1 BRCA2 TRMT10C MT-TS1 RBPJ VIPAS39 EXOSC9 EOGT GTF2IRD1 MVK DYM FLII PTPN2 MTO1 ELMO2 CA2 MTHFR ASS1 SPINK5 POLR2A OTULIN RAB3GAP1 ALAD SCN1B PTPN11 GALE NLRP1 GABRG2 ACTG1 POLR3K GAS1 NDUFA2 NECAP1 LBR NIPBL CIT LYRM7 PROKR2 MT-TH MTFMT KARS1 WDR26 NHLRC2 GNAO1 SLC25A21 ATM OTC NLRC4 MYMK AMER1 SLC12A3 LRRC8A SLC26A3 CHD7 ZMPSTE24 TJP2 SOX9 ARPC1B COL4A6 IFNG UFC1 SPOP NONO CD3E GALT AFF3 COG6 AGXT ERCC2 NDUFA6 NDUFB10 HBA2 FAM149B1 STT3B PIK3R1 PTPN22 HSD3B2 ARID1B PTF1A FLCN SLC25A4 MRPS2 TK2 CD40LG GTPBP2 GNAS LYRM4 AP3B2 UMPS AP1B1 MED17 ALOX12B ASAH1 SMOC1 EDNRB PEX11B SMARCD2 TTC37 HCFC1 EXOSC8 FANCF PCGF2 SLC17A5 CLDN16 JAGN1 TFRC CD79B PMPCB TRAC CYP24A1 COX4I2 KRT5 FUT8 ADAM17 TXNRD2 NDUFA9 NCAPG2 ALG3 LAT2 SEMA3D COL6A2 KCNAB2 NDUFA11 JAK1 ASXL3 ATXN7 HSD3B7 DEGS1 SMARCAL1 MSMO1 DGAT1 SIN3A MLXIPL CHRM3 TMPRSS15 MRPS14 IL21R ALG11 LIMK1 GPIHBP1 CDC45 KIF1B BAZ1B ARHGAP31 HSD17B4 FDXR BLNK NDUFB3 RNF2 ST3GAL5 SLC16A2 OFD1 PPM1B ARX TMEM126B SEC23B CASZ1 NR0B1 PRDM16 INS HBA1 PTRH2 PNPT1 VPS53 TNFRSF13C EXOC6B YARS1 CAV1 LARS1 RPS19 TWNK MKKS HLA-DQA1 TRIT1 FKBP6 CLDN4 NPAP1 PRKCD PNPLA1 HIKESHI MT-TV DALRD3 COX4I1 MT-CYB DPYD KRT16 GABRD SNORD115-1 MTR HP_INTRAUTERINE_GROWTH_RETARDATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRAUTERINE_GROWTH_RETARDATION ERCC2 ATR RNU4ATAC HMGA2 RTL1 HDAC8 SATB1 BUB1B LFNG PDHB ERCC8 PKLR SFXN4 VANGL2 PDHA1 RNASEH2A RAB3GAP1 BMPER TUBGCP6 TERT INS RBBP8 KANSL1 HOXD13 MBTPS2 HYMAI KCNJ11 DNAJC21 RAF1 RERE MCTP2 RTEL1 OBSL1 SMAD4 OTUD6B MRPS28 STN1 GLI2 SLC20A2 SPTBN1 NHP2 GATA5 ERCC6 DLK1 PRKAR1A INSR CDKN1C SKIV2L SIN3A FLNB FAM111A COG4 NIN CENPE NKX2-5 POLE NUP188 PLAGL1 ERCC1 RFX6 RHCE DBR1 RFWD3 MCM4 ALDH18A1 EP300 PYCR1 ERCC4 NKX2-6 STRA6 CWC27 NF1 TMEM70 OTUD5 WDR4 TRAIP ZIC2 CTBP1 MKS1 ACADS CDON CARS1 KIF2A PLAG1 NDUFAF3 SLC35A2 BRAF PARN HHAT PDX1 IGF2 EMG1 PEX5 ARCN1 DKC1 COX16 MADD GNAS LARS2 FOXH1 ZNF699 ABCB7 MEG3 UNC80 CDT1 RARB UQCRFS1 FGFRL1 GLIS3 FOXRED1 FANCL CPLX1 OSGEP ATP6V0A2 IFIH1 NDUFA10 TINF2 FDFT1 ASXL1 NODAL SMARCC2 DYRK1A GMNN MYOD1 GTPBP3 MT-ND1 NDUFB9 XPR1 DNMT3A B3GALT6 BCS1L BCR ATP6V1A COG5 DNAJC19 TP53RK SLC26A2 SMARCA2 CHD7 NDUFS8 MCM5 ZFP57 GTF2H5 CNOT1 JAM2 RAD21 TALDO1 RECQL4 EPB41L1 QRSL1 USP9X SEC24C ARID2 PDE4D FANCI DHDDS BUB1 CLCN7 COMT YIF1B DONSON FLT1 FIG4 PSAT1 NDUFAF4 SOX11 JMJD1C LRRC32 BRCA2 PRPS1 GDF1 COG1 ORC1 HBB MPLKIP IARS1 TCTN3 CDK10 PDGFB SDHAF1 ORC4 NDUFAF2 UBR1 NDUFV2 ARID1B TBCE GCK ATP7A SEC61A1 NIPBL GLI1 CUL7 NSDHL TTC7A RAB18 SUCLG1 CEL NUP107 ZNF335 GLI3 SRPX2 CITED2 SEC31A COQ9 NSUN2 FANCA HNF4A TOR1A DHCR7 HADH FBLN5 MYH3 H19 MT-ND2 NDUFAF5 NOS3 BRD4 TARS1 CANT1 CDCA7 TSFM KIF5C KAT6A PLK4 HIRA RHD PIEZO2 PTPN11 CREBBP IGF1 COQ7 MTRR TBX1 ARL6IP6 NDUFS2 FANCB IGF1R HSD11B2 RPL10 TBX4 PHGDH DHCR24 EVC2 ELN GATB NBN GTF2E2 GPKOW XRCC4 SMARCA4 ZMPSTE24 NDUFA1 SMC1A NDUFS4 NUP133 HNF1A SDHB PUF60 RBM10 GFM2 MRPS25 ALG8 MYORG GATC STAG1 ALX4 TONSL LEMD3 NUBPL ADAT3 ATP6V1E1 NDUFS3 FANCF RAPSN CHRNA1 FBN1 BCAP31 ARVCF LETM1 GJA5 SDHA TDGF1 CTC1 CENPJ B3GLCT AFF2 PET100 ABCC8 SEC24D VPS13B JAG1 NEK9 COX6B1 DLL1 RREB1 PDE6D EIF5A P4HB CEP57 LMNA BRCA1 PSPH SMARCB1 SUFU SDHD RAD51C NSD2 PTCD3 TENT5A TRAPPC11 SMPD4 TFAP2A WDR73 BUB3 FLVCR2 EXOSC9 CCNQ POLR3A RIPPLY2 ACD ERCC5 DYNC2LI1 SLC25A24 ESCO2 PCDH12 SC5D SIX3 NDUFS7 KMT2A ATRIP GATA4 SLC25A13 RAB3GAP2 NUP88 CHRNG PDGFRB TERC PIGG TMEM216 TRMT10A NFIX RTTN GLB1 TIMM22 IBA57 MESP2 NDUFS1 TOP3A FANCC TELO2 SLX4 ABL1 NELFA POLA1 TBC1D20 FKTN TPRKB COQ4 WARS2 GATA6 NDUFA6 TGIF1 DPF2 FLT4 FTO SCO1 GATAD2B RNF113A EFEMP2 BRPF1 SEMA3E CDC6 BLM XYLT1 FGF8 KIF14 CKAP2L RELN PDSS2 LIFR MUSK FARSB AARS1 RHAG XRCC2 DLL3 PPP1R15B BLK ITPA PCNT SON TFAM IGHMBP2 TUBGCP4 PAX4 NOP10 ERCC3 CTNND2 NUS1 CHRND SHH TGDS HDAC6 BRIP1 LMBRD1 YY1 COG6 LONP1 ALG1 TRIM37 NDUFB10 LAGE3 NDUFAF8 MTHFR UBE2T TTC37 TAF1 PAH STT3B NDUFV1 NPM1 GINS1 CRKL RAD51 SMARCD1 FMR1 DSP SNRPB ORC6 NDUFAF1 SEMA5A GAS1 ARID1A COG7 MAD2L2 LEMD2 RB1 SOX4 ZPR1 KDELR2 SLC35C1 SLC18A3 SMARCAL1 EVC FANCE COQ2 WNT4 PCGF2 SCUBE3 FGFR1 MMACHC DOK7 CEP290 KDM6A SMARCE1 NDUFB11 FUT8 ADGRG1 SIX2 NCAPG2 NEUROD1 RPL11 CORIN NDUFA11 CCDC8 ASXL3 CEP152 SAMD9 UQCC2 STOX1 HES7 MLXIPL STAT3 MAPK1 FAM20C WASHC5 HYLS1 PEX2 CDC45 KLF11 MESD NDUFB3 RNF2 APPL1 MT-ND3 ADGRG6 NDUFS6 NALCN UFD1 LIG4 PI4KA SNRPN RIPK4 PIK3R1 SMC3 WRAP53 JUP PTCH1 PNPT1 TIMMDC1 WNT7A USB1 TAPT1 ZFPM2 FLI1 ATP5F1A TBX6 GP1BB ALG12 DDX11 RPS19 PLXND1 PTDSS1 TRIP13 PRKDC FANCG CTDP1 TUFM CTU2 NDE1 GFM1 PLOD3 DISP1 FANCD2 TMEM126B SF3B4 FANCM PALB2 GBA HP_SMALL_FOR_GESTATIONAL_AGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_FOR_GESTATIONAL_AGE PTCD3 TENT5A RPS28 GDF1 RPS15A WDR73 GALK1 BUB1B TSHR KCNJ1 ADA2 SLC12A1 CCNQ EIF2S3 RPL18 PDHA1 SLC25A24 YIPF5 MAMLD1 RTL1 KANSL1 LRP5 MTO1 IRF6 HNF1A NR1H4 GCK PTF1A RPL35 MCTP2 SBDS ZNF41 HSD11B2 NSD2 CRIPT TRMT10A RPL35A SLC9A7 FANCA TIMM22 INSR ZNF81 PTS TP63 GATA1 HADHA FANCC FRMPD4 SNRPN PRKAR1A CDKN1C SKIV2L AGTR2 PTCHD1 SIN3A TSR2 ARX UQCRC2 MRPS16 FTSJ1 PAK3 ABCC8 NUP188 COL1A1 RPS27 BLM CYB5R3 PHOX2B TMEM70 NDP ATP8B1 MUSK KARS1 FARSB NGLY1 OTUD5 CREB3L1 TRAIP ACTB MAGEL2 OBSL1 PPP1R15B CARS1 PLAG1 RPS20 SYP IGF2 IGHMBP2 RPL5 DLG3 SYNE1 NDN CLCNKB ZNF699 CTCF UQCRFS1 FGFRL1 RPS29 CPLX1 THRB YY1 RPS10 RPS26 OCA2 HUWE1 ERCC2 LONP1 DNM2 RPL26 DYRK1A TTC37 CNTN1 CYB5A PIK3C2A CCDC8 MSX1 FZD4 GK SRCAP CLCNKA FLCN RNU4ATAC AR PQBP1 ALG12 EMG1 NECTIN1 DMD ZFP57 AUTS2 RPS24 HADHB POC1A ACSL4 SHROOM4 ZNF711 GTF2E2 TALDO1 CNKSR2 TBL1XR1 MID2 RECQL4 KDELR2 FAM111A CTBP1 GRIN2A SRP54 RPL27 SMAD4 GMNN SLC35C1 FLT1 GATA6 ARHGEF6 ORC1 ALB POR FBXL4 RAB39B COX20 ALG8 UBR1 GDI1 ACADVL SPR MYH3 LETM1 KIF22 DLK1 RPS6KA3 ALG13 THOC2 BSND CUL7 SIX2 CNOT1 MECP2 RET ZNF335 VPS13B HMGA2 MBTPS2 USP27X CORIN PNPLA6 NPHS1 RPL15 FANCD2 RPS19 SMARCAL1 MED13L STOX1 H19 RPS7 TAF13 TSPAN7 MEG3 RBBP8 FBN1 MED12 DNAJC21 NSUN2 COQ7 RPL11 IQSEC2 CLTCL1 STEEP1 COL1A2 SLC16A2 PLAGL1 IL1RAPL1 PIK3R1 STAMBP RPL31 HYMAI ASCL1 ABCB11 IGF1 UPF3B PUF60 FANCE TAPT1 USP9X KCNJ11 TONSL CLCN4 INS TBR1 PAM16 ANAPC1 MBTPS1 PET100 NSF HCFC1 DALRD3 EPCAM TRMT1 NSMCE3 ERCC6 CEP57 PPP2R3C RPS17 ABCB4 HP_DISPROPORTIONATE_TALL_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISPROPORTIONATE_TALL_STATURE PALS1 JARID2 NSD2 MYT1L KMT2E ATP6V1A AKT1 CCDC32 HUWE1 KAT8 LARS2 DPYSL5 HS2ST1 CTBP1 MED12 BPTF ZMIZ1 FBN2 HPGD PUS7 DDX6 PTPN23 SMS UPF3B MED13 UBR7 CBS WASF1 PTEN NTNG1 COL1A2 PLOD1 CPLX1 NTNG2 WDFY3 FBN1 ZNF469 TGFBR2 DOCK3 COL2A1 DSE RLIM LOX ZDHHC9 ATP6V1E1 ACTL6A SMAD3 MAN2B1 MAPK8IP3 TRIP12 HPDL NELFA LETM1 POR SLC12A2 SVBP ASXL3 HERC1 TANC2 HTT CHST14 MED27 BCORL1 GRIA4 KDM4B TNRC6B TGFBR1 PSMD12 DLG4 FKBP14 TRMT1 NKAP RET CNOT3 TRAPPC4 ACTL6B KCNMA1 SATB1 FBXW11 AGO2 TCF20 PIGG MADD MFAP5 HP_LARGE_FOR_GESTATIONAL_AGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_FOR_GESTATIONAL_AGE FIBP MTOR ODC1 HNF4A ABCC8 KLF11 PIGA DIS3L2 KCNJ11 BLK RYR1 APPL1 PIGT DNM2 TMCO1 RTL1 BIN1 PDX1 IFT74 PTCH1 PAX4 HNF1A AKT2 SHOC2 MEG3 EHMT1 UCP2 EDNRB CEL GLI3 SOS1 NEUROD1 SUFU ABCC9 HERC1 DLK1 GCK PIGL RNF135 ANK3 INS MYF6 MTMR14 BRAF RAF1 PIGN KMT2C RIT1 HP_DEATH_IN_INFANCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEATH_IN_INFANCY NDUFS4 ERCC2 PLEC SMPD4 PEX6 GPC4 LAMB3 MYL1 PIGA MLH1 SLC25A46 PQBP1 STX3 STAT2 TRIP11 SLC25A24 PEX1 KRAS FANCB ATP6AP1 FARS2 TNFRSF11A PEX26 GRM7 DOLK ALG14 ROBO1 NDUFA2 PIK3CA TGFBR2 FXR1 PEX3 PMS2 GLB1 NAXE PEX10 GPR161 PEX12 FREM2 SCN4A MLH3 LAT SLC26A2 WDR11 POLG2 GCSH MSH2 PLXND1 ERCC1 SMO NXN GLDC LIPA PEX16 NR1H4 PROKR2 PHOX2B CRTAP AARS2 DCX GRIP1 ITGB4 PEX5 ITPA TFAM HSPG2 MRPS22 EMG1 ACADVL COX16 MADD ERCC6 HESX1 ROR2 SFTPB GPC3 HDAC6 DLL3 LMOD1 AFF3 COG6 ALG1 DNM2 BMPR1B LHX4 GDF5 CNTN1 TSEN54 PEX19 PTF1A GBA RPL3L BOLA3 CD96 SNRPB RBM8A OCRL MYLK LMNA QRSL1 VPS33B NEB TMEM70 AMT SCYL2 PIGB SMOC1 COX5A PEX11B NAXD NADK2 SMARCD2 COASY SUOX CDC40 KIF20A COX10 DPM2 ACOX1 NADSYN1 MYH11 ITGA6 MSH6 MYO5B LIPT1 CRLF1 SUCLG1 LAMA3 RET ASXL3 TOR1A TMEM260 IDUA EPCAM CCDC22 DNM1L HTRA2 KLHL40 FRAS1 ACTG2 NRAS TSPYL1 PSAP WT1 C2orf69 PRPS1 CLCF1 SLC25A19 PMS1 ARX MESP2 PEX2 ASCL1 SIK1 AIMP1 FAN1 PEX13 LTC4S GATC FLI1 NFS1 ABCA3 PPIL1 ERCC5 ATRX VPS35L ANTXR2 PEX14 BRAT1 PET100 NSF CDON POMT2 TUFM NDUFAF3 REV3L WASHC5 LAMC2 SCO2 RMND1 ALPL EPG5 JPH2 UBR1 HP_SEVERE_FAILURE_TO_THRIVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_FAILURE_TO_THRIVE ZFP57 HYMAI ERCC6 CLCNKA FIG4 CLCNKB VAC14 ASXL1 ZMPSTE24 UNC80 INSR PEX7 RTTN PRPS1 BSND LMNA NALCN HP_HEMIHYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIHYPERTROPHY IGF2 NRAS RASA1 H19 RNF125 AKT2 HRAS ZNF699 PIK3CA CDKN1C KCNQ1OT1 HNF1B KCNQ1 AKT1 KRAS HP_MILD_POSTNATAL_GROWTH_RETARDATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MILD_POSTNATAL_GROWTH_RETARDATION PTPN2 CDAN1 PTPN22 PTRH2 CCBE1 PRKAR1A ERCC6 IGFALS IL2RB IL2RA ANKRD55 ADAMTS3 ERCC8 CD247 FAT4 STAT4 HP_FAILURE_TO_THRIVE_IN_INFANCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FAILURE_TO_THRIVE_IN_INFANCY SHH RAI1 GTF2I ENPP1 NFKB2 SIX3 HBB KRAS COX5A HERC2 GTF2IRD1 EDNRB PSAT1 DEAF1 FGFR1 HADHA CLIP2 TNFRSF13B COG1 SCNN1G ERBB3 MVK ABHD11 ERBB2 STIL FLII SLC25A13 UNC80 IL1RN ICOS GLI2 CD81 RET ELN FOXP3 GDNF EIF4H ITCH CSF2RB OTULIN ZIC2 LAT2 SEMA3D CR2 STX1A CTNS PSMB10 MAP2K1 PUS3 NRTN BRAF PTPN11 COPB2 HPDL SCNN1B BPTF COG8 MLXIPL ABCD1 HADHB BUD23 ECE1 HRAS METTL27 TBL2 SNORD116-1 MAGEL2 MCCC1 FOXP1 LIMK1 IQSEC2 CLDN3 SLC39A8 JAK3 MAP2K2 CD19 MYOD1 EDN3 BAZ1B ABCC6 SEMA3C MCCC2 CARS1 SLC16A2 TNFSF12 SLC35A2 SMO SON NDN PWRN1 SCNN1A NDUFA4 DISP1 PYGL TNFRSF13C FGF8 YARS1 LTC4S GTF2IRD2 MKRN3 MS4A1 PWAR1 SPOP ERCC1 ATP7A COG4 DYRK1A NCF1 SREBF1 RFC2 FDFT1 FKBP6 KIF15 CLDN4 NPAP1 DNAJC30 PRKCD VPS37D VPS13B SETBP1 NSMCE3 SNRPN RAC2 TKFC TMEM270 PSMD12 CD96 CSF2RA TK2 BCL7B POLA1 SP110 NFKB1 SNORD115-1 TGFB3 IL2RA RECQL4 HP_SLENDER_BUILD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLENDER_BUILD TPM2 GRIA3 TYMP FARSB NSDHL COL6A2 NEB PDE11A TIMM50 NONO POLR3A PRKAR1A KANSL1 ACTA1 DNA2 FBN2 HERC1 WRN TGFB1 MYPN TUBB4A PRKACA KBTBD13 SARS1 PDE8B POLG KLHL41 TPM3 MED12 STRADA COL6A3 UPF3B COL6A1 HP_PROTUBERANT_ABDOMEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROTUBERANT_ABDOMEN CYP2R1 MTOR IFT122 GNE NKX3-2 GNPTAB SMPD1 COL11A1 VDR TRIP11 GBA CYP27B1 FLNB BMPER KIAA0753 COL11A2 SMARCAL1 RTL1 SLC26A2 SLC37A4 DYM FBN1 G6PC1 COL2A1 KAT6A MEG3 LIPA INPPL1 PSMB8 DLK1 PTH1R IFT52 HP_OMPHALOCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OMPHALOCELE NXN GAD1 SHH GPC4 RTL1 LONP1 SIX3 SEMA3E VANGL2 FGFR1 FREM1 MAMLD1 RAB23 WDR35 STIL HOXD13 GLI2 ALG9 MBTPS2 FOXF1 MYH11 KCNQ1OT1 THRA TTC7A ZIC2 FLNA DYNC2I1 ZIC3 DACT1 IFT80 PAFAH1B1 CDKN1C FLNB DLK1 FREM2 PORCN DYNC2I2 PTCH1 MASP1 MEG3 DYNC2H1 HYLS1 FRAS1 MMP14 CHD7 GRIP1 ACTG2 PIGN PPP1R12A COL11A1 LRP2 MKS1 TP63 KCNQ1 AMER1 NFIX SPECC1L RIPK4 BHLHA9 YWHAE DISP1 GPC3 CEP120 FGF8 DVL3 LBR LMOD1 CD96 ISL1 TSHB MTHFR IGF2 NEK9 COL11A2 AR PPP2R3C TWIST2 CHUK HIC1 MMP2 IFT81 MYLK HP_DIASTASIS_RECTI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIASTASIS_RECTI MEG3 MTOR SPECC1L RTL1 GNPTAB IGF2 COLEC10 CDKN1C SHPK H19 COLEC11 KCNQ1 DLK1 B3GLCT PIGQ MASP1 PORCN TBCK PPP2R3C EZH2 GPC3 FOXF1 GPC4 KCNQ1OT1 ELMO2 CHST14 SOX6 HP_ASCITES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASCITES IL12A ENPP1 BUB3 BUB1B RBPJ BUB1 EOGT EIF2AK3 FLI1 PRKAR1A NEU1 GBA TNPO3 FAT4 RHBDF2 FAH SLC17A5 F5 ALG8 KIF20A NR1H4 PKHD1 SOX18 ERCC4 CBL HFE STAT4 RUNX1 BMP2 SMPD1 SRSF2 EWSR1 PRKCSH IL12RB1 DNASE1L3 GPR35 IRAK1 CD27 AGGF1 PIEZO1 CD55 LBR OSTM1 MEFV FSHR DGUOK SPP1 PRKAG2 ARL6IP6 ATP8B1 ARHGAP31 FARSB TSC1 ABCC6 HSD17B4 TSC2 TCF4 DIS3L2 CCBE1 DLL4 MMEL1 TFAM DZIP1L NPC1 MRPS22 CEP57 WT1 MST1 TNFSF15 ABCB11 IRF5 TAPT1 ADAMTS3 ATP6AP2 NOTCH1 JAK2 WDR35 USP18 TRIM37 SEMA4D GUSB POU2AF1 TET2 DOCK6 TRIP13 NPC2 GALT LIPA ALG9 GBE1 ASAH1 EIF5A MYBPC3 SCARB2 FAM111A SPIB SP110 PLVAP ABCB4 ASXL1 HP_PROMINENT_UMBILICUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_UMBILICUS CAVIN1 BSCL2 FGD1 LMNA KAT6A AGPAT2 ZMPSTE24 HP_ANTERIORLY_PLACED_ANUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTERIORLY_PLACED_ANUS FREM1 GAS1 CDH11 FOXH1 PIGL PIGO DCHS1 TGIF1 RECQL4 SLC25A24 POR TDGF1 NODAL PGAP2 DDB1 UBR1 NDUFB11 ACADVL SUZ12 C2CD3 MED12 PIGV DVL3 ZIC2 GLI2 FGFR2 ESCO2 GLI3 PTCH1 SHH SIX3 HCCS PIGW CHD4 CDON PTDSS1 B3GLCT SNRPB SALL1 COX7B PORCN RRAS2 SETBP1 PIGY RFX6 FGF8 DLL1 CDK8 DISP1 DACT1 DDX6 PGAP3 ATN1 FAT4 HP_ABNORMAL_RIB_CAGE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RIB_CAGE_MORPHOLOGY ATR DYNC2LI1 A2ML1 RTL1 KIAA0586 SLC35D1 TENT5A LFNG KCNJ8 SELENON FBN1 SUFU TRPV4 BMPER WDR19 TRPV6 HOXD13 TNFRSF11A MMP23B H19 RSPO2 OBSL1 C2CD3 SMAD4 PAX7 ARSL SH2B1 GPX4 SOX9 BRAF RAB33B CTNS BANF1 CBL SPEN GALNS MAN2B1 MAP2K1 GDF6 RBM8A SOS2 MGAT2 HES7 LMOD3 MGP PTH1R AIFM1 NXN CHST3 GPC4 SOS1 DYNC2H1 CRTAP LRP5 AKT1 CREB3L1 FIG4 COL11A1 NRAS CTBP1 NOTCH3 COG1 TBX15 RERE PRKCZ CYP27B1 HSPG2 DYNC2I2 TDGF1 PORCN WNT4 VAC14 ROR2 MEG3 GPC3 CDT1 ARSB EXT2 FGFRL1 DYNC2I1 MESP2 CPLX1 LBR AR TBX6 ATP7A POP1 TRIP11 PUF60 GUSB GMNN SALL1 RRAS2 SRCAP SETBP1 DNMT3A CFAP410 GNS PPIB SLC26A2 FGF8 CHD7 ANTXR1 FLNA ADA OCRL PTPN11 MTMR14 PTCH1 EVC2 KLHL41 DYM CYP2R1 LMX1B SOX2 B3GAT3 DONSON CEP152 ORC1 WDR35 FUCA1 GDF11 IL1RN ORC4 EFNB1 EIF2AK3 RUNX2 NIPBL CUL7 ACAN NSDHL ZBTB16 COL2A1 HRAS MMP13 GLI3 NKX3-2 NEK1 JAG1 RRAS TOR1A HERC1 SLC34A3 FUZ DLK1 COL11A2 TBX5 FGFR3 UBE4B MYH3 IDUA SRP54 CCDC22 KAT6A VANGL1 NEB PLOD1 HHAT EVC SCARF2 DACT1 DNAJC21 DDRGK1 PTCH2 TBC1D24 ODC1 IGF1R FGFR2 COL1A2 FOXH1 TTC21B IKBKG TBCK GPKOW FERMT1 ZMPSTE24 AMER1 DDR2 ADAMTS10 NAA10 CEP120 ERMARD SKI P3H1 CHRNA1 CANT1 CHRNG LETM1 PAM16 SEC24D CENPJ NFASC FLNB KLHL40 NEK9 P4HB LZTR1 LMNA WASHC5 GLE1 MAMLD1 PDPN DISP1 CILK1 NSD2 GAS1 RIT1 BCOR BMP2 MEOX1 TRAPPC2 POLR3A RIPPLY2 POR TGIF1 KRAS INPPL1 PEX1 RAF1 KMT2A GATA4 IFT80 SBDS SERPINH1 FOXF1 ACTB EXOC6B HGSNAT GLB1 IDS ANKRD11 SHH SIX3 TBCE NELFA GNPTG PRKACA COL1A1 TNFSF11 NAGLU GATA6 XYLT2 SNX10 WNT3 SMO EZH2 TMCO1 DLL1 MYF6 MAPK1 MBTPS2 SEMA3E RECQL4 CLCN7 COMP COL10A1 MAP3K7 ATP6V1B2 IRF6 MUSK DLL3 CDC6 IHH UBE3B SON PLCB3 PTEN NODAL MYF5 PPP3CA LUZP1 CHRND INTU HDAC6 WNT1 RTTN IFT122 AFF3 DNM2 ANK1 APC CDON PHEX EFL1 TNFRSF11B ALG12 SNRPB ORC6 IFT140 LRP4 IFT43 PIGG SOST IGF2 KDELR2 GNPTAB LIFR PRKACB BIN1 CSPP1 RMRP MTM1 PCGF2 SCUBE3 PIEZO2 ZIC2 GLI2 XYLT1 KCNAB2 VDR IFT172 CCDC8 B3GALT6 PCYT1A CHRM3 ACTA1 MED12 BGN ALPL MATN3 SIX6 CDC45 UBA1 MTX2 SF3B4 ABCC9 MESD RYR1 VPS33A RNU4ATAC MRAS MAF EXT1 CASZ1 NOG PRDM16 GDF3 IFT57 ACP5 DHCR7 TAPT1 SGSH FLI1 OFD1 RPS19 TCIRG1 PTDSS1 RASA2 PAX3 FAM111A KCNQ1OT1 GABRD IFT81 WNT7A HP_OVERGROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERGROWTH FIBP HRAS NF1 NRAS PIGA SOST PIK3CA GPR101 PDGFRB CDKN1C HERC1 IGF2 KCNQ1 DLK1 HNRNPK NFIX RTL1 HSPG2 ESR1 DICER1 RNF135 EED EFEMP2 MEG3 SETD2 FAM20A SUZ12 EHMT1 KCNQ1OT1 TGFB3 KRAS KMT2C FBLN5 HP_ABNORMAL_ILEUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ILEUM_MORPHOLOGY MID2 IQSEC2 XRCC2 FANCB PPP1R12A STEEP1 DIS3L2 ARHGEF6 BRCA2 SYP FANCE IL1RAPL1 RAB39B DLG3 GDI1 UPF3B GPC3 TNFAIP3 ZNF41 FOXF1 RPS6KA3 USP9X ALG13 SLC9A7 FANCI ZNF81 FGFR1 FANCF MECP2 CLCN4 MYH11 USP27X FANCC SLX4 FRMPD4 FANCA AGTR2 PTCHD1 UBE2T FANCG RELA ARX HCFC1 FANCL RAD51 FTSJ1 PAK3 CARD8 TTC7A TSPAN7 BRCA1 DMD RBM8A GPC4 BRIP1 FANCD2 RFWD3 MED12 FANCM ERCC4 PALB2 ACSL4 ZNF711 MAD2L2 CNKSR2 RAD51C HP_ABNORMAL_UMBILICUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_UMBILICUS_MORPHOLOGY TENT5A COL1A1 GPC4 RTL1 GTF2I CDH11 LFNG KCNJ8 SH3PXD2B FBN1 FBLN5 GTF2IRD1 KNSTRN RIPPLY2 KIF7 SLC25A24 GLI3 ROR2 HELLS RAB23 IRF6 CLDN19 CHRNG ESS2 FBXW11 ATAD1 PIGQ GLRA1 IDS PPP2CA BCOR MESP2 TP63 FGD1 MAN2B1 SLX4 LHX4 ATP6V0A2 SMAD3 SCN1B TBX1 WNT5A FREM2 RAC1 TSHB APC2 GPHN ELN POU1F1 NKX2-5 ABCC8 IDUA GATA6 PLAGL1 LBR FTO EED EZH2 KCNA1 RNF113A NXN METTL27 PIGP TBL2 MBTPS2 SHANK3 RFWD3 ARID1B NOTCH1 ALDH18A1 DGCR8 GJA1 SLC26A2 ERCC4 CHST14 CHD7 TMEM70 SLC6A5 KRT1 GRIP1 GNAO1 XRCC2 PROP1 TUBB DLL3 GUSB CDCA7 NOTCH3 SALL1 HDAC4 CDKL5 CASK HSPG2 COLEC11 PORCN IGF2 NFIX COLEC10 DVL1 LHX3 DUOX2 PLOD1 PIGS ERCC3 HESX1 DNMT3B SPECC1L GPC3 ZMPSTE24 ADNP SUZ12 MED12 ARSB EHMT1 ERCC2 MTOR GLIS3 MED13L EN1 LMNA SIK1 TGDS SOX6 LMOD1 IKBKG NCF1 MEGF8 FANCC CREBBP RFC2 HYMAI ATRX ACTG2 COL3A1 GLRB DNAJC30 UBE2T B3GLCT MSX1 SETBP1 RAD51 AEBP1 COL5A2 FKBP14 NOTCH2 NEU1 ANTXR1 NECTIN1 BCL7B ZFP57 OCRL GTF2H5 C1S MYLK SLC25A22 MAD2L2 SEC24C DMXL2 PAX8 KDELR2 GNPTAB FLNA IYD COMT TRIM8 GMNN SLC35C1 COL5A1 SLC5A5 SEMA3E JMJD1C SLC2A10 BRCA2 CLIP2 SNIP1 SCN2A FANCE MPLKIP ABHD11 PTCH1 PIK3CD TSHR EOGT SRCAP EFNB1 ZBTB24 TRAF7 DGCR2 NSD1 MYH11 KCNH1 NEUROD2 ATP7A BMP1 NIPBL ELMO2 FANCI NSDHL EIF4H CCBE1 PNKP RIN2 LAT2 STX1A SEC31A ABCC9 DNMT3A TG FANCA TOR1A DLK1 SETD2 MASP1 MYH3 H19 HES7 MLXIPL FANCL CAVIN1 TARS1 BUD23 DGCR6 KAT6A MEG3 HIRA BSCL2 LIMK1 CLDN3 FRAS1 TRRAP BAZ1B FANCB LRP2 NALCN RNF2 ADAMTS2 PACS1 BCL11B DVL3 UFD1 ARX POLR3GL TRIP11 KDM3B GTF2E2 RIPK4 DUOXA2 AUTS2 LTBP4 GTF2IRD2 TGFBR2 KCNJ11 GP1BB SKI FGFR2 FANCF FKBP6 ARVCF AGPAT2 ISL1 CLDN4 AGA VPS37D COL2A1 FANCG TPO PRDM5 PHGDH RREB1 MAPRE2 FZD2 GPC6 TWIST2 BRCA1 TMEM270 BRIP1 FANCD2 STXBP1 FANCM PALB2 KMT2C RAD51C HP_BARREL_SHAPED_CHEST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BARREL_SHAPED_CHEST DYM P3H1 LBR RAB33B COL2A1 HRAS MYH3 TRAPPC2 TRIP11 CHST3 VPS33A KDELR2 TRPV4 TNFRSF11B FUCA1 ACP5 LRP5 EIF2AK3 ACAN CILK1 WNT7A HP_ASYMMETRY_OF_THE_THORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASYMMETRY_OF_THE_THORAX PTEN IGF2 HERC1 KCNQ1OT1 AKT1 AMER1 H19 MESD ANTXR1 HP_PRENATAL_MOVEMENT_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRENATAL_MOVEMENT_ABNORMALITY NSD2 HDAC8 MYL1 GNB2 CACNA1A EXOSC9 HERC2 SLC18A3 TPM3 RAI1 LMOD3 MYCN DEAF1 ERCC5 SLC13A5 DOK7 FLII NUP88 SLC3A1 SYNJ1 LMNA PAX7 COL6A2 ALG14 MYO9A CDK19 POLR2A MYL2 FXR1 VAMP1 NELFA TBCK SNRPN CHRND NEXMIF KCNA2 CHRNE GABRG2 TRPV4 PSAT1 RAPSN NUP188 CNKSR2 NDN NECAP1 CLTC MYF6 NIPBL GABRB2 MEGF10 WDR62 PHOX2B CELF2 NTRK2 MUSK GABRA2 KLHL41 HACD1 TRAK1 TRAIP ERBB3 MAGEL2 RYR1 ACTA1 CTBP1 HCN1 ZC4H2 USP7 IL2RB MYMK SLC1A2 TMCO1 HSPG2 CCDC174 IGF2 IGHMBP2 NALCN ERGIC1 KBTBD13 SYNE1 DMPK PIGS COL13A1 FGFRL1 ZMPSTE24 CPLX1 SLC25A26 PLPBP TPM2 NEB OCA2 ARV1 GMPPB SMN1 DNM2 MYOD1 B3GLCT CNTN1 FGF13 SYT2 ALG9 GBE1 ATP6V1A ACTL6B GBA SLC25A1 MTM1 PEX3 CHUK COL6A3 ALDH7A1 CHRNG MTMR14 PIGG UBA5 SELENON RAD21 ITGA7 AP3B2 DNM1 SCYL2 COX15 PREPL PRUNE1 KCNB1 DNA2 BIN1 CNTNAP1 MPZ SNAP25 CHAT MYH3 LETM1 ASCC1 CAMKMT RET GABRA5 AGRN COL12A1 CYFIP2 TOR1A DPAGT1 DHCR7 CACNA1B FGFR3 PARS2 H19 CRPPA BRD4 AARS1 TSFM KIF5C DNM1L SCN3A UBA1 PLOD1 SNORD116-1 KLHL40 IQSEC2 EEF1A2 LGI4 ODC1 DHDDS SCN8A COL6A1 SLC16A2 STXBP1 PHGDH ADGRG6 SLC25A19 MYH7 MYPN GLDN PPM1B EBF3 WWOX GPKOW YWHAG RIPK4 UNC45B PWRN1 SYNGAP1 SMC3 ASCL1 FGF12 PTRH2 DPYSL5 ALG8 GFPT1 SMC1A MKRN3 ZBTB42 PEX19 PWAR1 BICD2 GLE1 CHRNA1 GRIN2D PPP3CA NPAP1 NFASC NUS1 VPS13B DALRD3 MAP3K20 NEK9 SZT2 TRIP4 SLC5A7 SNORD115-1 HP_ABNORMALITY_OF_THE_AMNIOTIC_FLUID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_AMNIOTIC_FLUID WNT4 RTL1 KIAA0586 SLC35D1 B3GALT6 SATB1 PIGA BUB1B CFL2 UROS SLC12A1 SLC18A3 TPM3 PKLR LMOD3 BMPER AMMECR1 TRPV6 HOXD13 ITGA6 COL2A1 PLEC ALG9 NR1H4 RSPO2 PKHD1 CRB2 AVPR2 STRADA ADAMTS3 AQP2 FXR1 BRAF TP63 TCTN1 HBA1 FLNB CDKN1C SIN3A EXT2 MYO9A FOXE1 PLAGL1 RHCE RFWD3 TRAPPC12 EP300 PHOX2B ERCC4 KRAS ERF TMEM70 ATP8B1 OTUD5 HACD1 TRAIP PIGN ERBB3 FIG4 ITGB4 RYR1 DIS3L2 MKS1 PLAG1 HSPG2 DYNC2I2 TMEM231 MAFB IGF2 NALCN ERGIC1 KBTBD13 DMPK MADD LARS2 CLCNKB RET PPP1CB VAC14 ZNF699 MEG3 COL13A1 RPGRIP1L DPM2 NPHP3 LBR SLC25A26 PLPBP TPM2 TMEM67 SPINT2 LMOD1 OSGEP AGTR1 CERT1 HYMAI B9D1 COL11A2 TRIP11 MYOD1 UROD CNTN1 SYT2 TSEN54 MSX1 ITGA8 CEP55 CLCNKA REN COG5 SLC25A1 MTM1 CD96 CHD7 UBE2A PRRX1 KLHL41 GREB1L HIC1 NEK8 MTMR14 TXNDC15 TTC7A SETD1A ACTG2 MYLK TALDO1 ITGA7 SEC24C NEB SCYL2 BUB1 CLCN7 COMT DONSON JMJD1C BRCA2 ALB MYL9 POR DYRK1A CNTNAP1 IARS1 PGAP2 CHAT SHOC2 ASCC1 BSND WDR81 HRAS HMGA2 MYH11 GLI3 KIDINS220 SOS1 PBX1 B9D2 FANCA TOR1A ACTA1 DLK1 FGFR3 H19 SLC9A3 PNPO HIRA BNC2 RHD CREBBP COQ7 TBX1 TBC1D24 TMEM216 ABCC6 ODC1 FANCB RPL10 GLE1 PHGDH TBCD SLC26A2 MYPN GLDN DZIP1L SMG9 TBCK KAT6B CC2D2A ZMPSTE24 ASCL1 ABCB11 MYH3 PUF60 MTHFR ALG8 KCNJ6 ZC4H2 ALX4 EXTL3 ADAT3 FANCF CPT2 RAPSN ACE CHRNA1 FBN1 PMM2 ARVCF SEC24D B3GLCT SLC27A4 KLHL40 DALRD3 CBL NEK9 RREB1 LZTR1 LMNA BRCA1 MAMLD1 SLC5A7 LTBP3 RAF1 ABCB4 HS2ST1 CHRM3 CEP290 RAD51C GPC4 LONP1 WDR73 BUB3 SLC25A46 KCNJ1 FLVCR2 EXOSC9 PIGL MYCN SLC13A5 INPPL1 HYLS1 SLC25A24 COX14 ESCO2 C1QBP IRF6 TCTN3 NUP88 GRM7 FOXF1 PIGV ALG14 MYL2 IBA57 HADHA SLX4 ATAD3A ADARB1 CSPP1 RRAS2 VANGL2 PSAT1 PIGY PTH1R WNT3 PIEZO1 TMCO1 MYF6 MBTPS2 SEMA3E MAGED2 KIF14 ATP6V1B2 PDSS2 KIF7 AGT LIFR MUSK FARSB RHAG XRCC2 PHACTR1 FARSA FGF20 MRPS22 AMER1 DOCK6 GATA1 YWHAE SLC26A3 GPC3 SOX9 CHRND SPOP FANCC ALG1 CALCRL DNM2 PIGW UBE2T EBP PIGQ RAD51 GBE1 HBA2 GMPPB ALG12 DSP INVS NECTIN1 ALDH7A1 CHRNG DDX6 HADHB PLVAP PGAP3 TMEM237 MAD2L2 FBLN5 TMEM107 ENPP1 GNPTAB GATA6 TTC37 BIN1 FANCE COQ2 NRAS PCGF2 IKZF1 WDR35 SNAP25 DOK7 DHPS DYNC2LI1 RPGRIP1 FUT8 FANCI HSPA9 RPL11 AGRN PAFAH1B1 ASXL3 SNRPB SLC35A2 FANCL ASXL1 SOX17 HSD17B4 CLTCL1 RNF2 OTX2 SLC16A2 HNF1B PIGO ADGRG6 UFD1 RNU4ATAC EBF3 KDM3B CEP57 SNRPN VAMP1 LHX1 JUP DHCR7 DYNC2I1 SELENON TAPT1 GP1BB ZBTB42 MOGS TRIP13 FANCG MAP3K20 TCTN2 EFEMP2 BRIP1 FANCD2 TRIP4 ALPL FANCM PALB2 GBA RIT1 HP_POLYHYDRAMNIOS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYHYDRAMNIOS RPL10 PLEC GPC4 RTL1 KIAA0586 SLC35D1 LONP1 BUB3 PIGA BUB1B CFL2 SLC25A46 KCNJ1 FLVCR2 SLC12A1 SLC18A3 TPM3 LMOD3 MYCN INPPL1 HYLS1 AMMECR1 ESCO2 TRPV6 HOXD13 IRF6 ITGA6 COL2A1 ALG9 NUP88 RSPO2 GRM7 FOXF1 CRB2 ALG14 AVPR2 STRADA ADAMTS3 MYL2 AQP2 IBA57 BRAF TP63 HBA1 ATAD3A FLNB SIN3A EXT2 ADARB1 MYO9A RRAS2 VANGL2 PSAT1 FOXE1 PTH1R WNT3 PIEZO1 TMCO1 MYF6 SEMA3E TRAPPC12 MAGED2 EP300 SLC26A2 PHOX2B ATP6V1B2 KRAS KIF7 TSEN54 ERF CLCNKB MUSK OTUD5 HACD1 TRAIP PIGN ERBB3 FIG4 ITGB4 RYR1 ACTA1 DIS3L2 PHACTR1 HSPG2 DYNC2I2 MAFB NALCN AMER1 KBTBD13 DMPK MADD YWHAE PPP1CB VAC14 ZNF699 SLC26A3 MEG3 GPC3 COL13A1 SOX9 ZMPSTE24 DPM2 CHRND SPOP NPHP3 LBR SLC25A26 TPM2 SPINT2 NEB LMOD1 CALCRL DNM2 COL11A2 TRIP11 MYOD1 B3GLCT EBP PIGQ CNTN1 SYT2 MSX1 GBE1 HBA2 CLCNKA ALG12 SLC25A1 MTM1 CD96 CHD7 NECTIN1 PRRX1 CHRNG KLHL41 HIC1 MTMR14 TTC7A ACTG2 MYLK PLVAP ITGA7 SEC24C ENPP1 SCYL2 BUB1 CLCN7 COMT JMJD1C TTC37 BIN1 DYRK1A CNTNAP1 NRAS FANCF PCGF2 IKZF1 WDR35 BSND SNAP25 DOK7 CHAT MYH3 SHOC2 DYNC2LI1 MYH11 ASCC1 FUT8 WDR81 SLC5A7 HRAS RET KIDINS220 SOS1 RPL11 AGRN PAFAH1B1 ASXL3 TOR1A DLK1 SNRPB FGFR3 SLC9A3 ASXL1 HIRA KLHL40 CREBBP SOX17 TBX1 PIGY TBC1D24 ODC1 ABCC6 HSD17B4 OTX2 SLC16A2 PHGDH ADGRG6 TBCD MYPN GLDN UFD1 KDM3B SMG9 KAT6B CEP57 VAMP1 ASCL1 DHCR7 DYNC2I1 MTHFR SELENON TAPT1 KCNJ6 ZC4H2 GP1BB ZBTB42 MOGS EXTL3 ADAT3 RAPSN CHRNA1 ARVCF LMNA TRIP13 SLC27A4 MAP3K20 CBL RREB1 LZTR1 GLE1 MAMLD1 FANCB LTBP3 ALPL RAF1 GBA RIT1 HP_OLIGOHYDRAMNIOS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIGOHYDRAMNIOS WNT4 TMEM107 B3GALT6 WDR73 GNPTAB SATB1 BUB1B TMEM70 EXOSC9 PIGL TMEM231 DONSON GATA6 BRCA2 BMPER ALB SLC25A24 MYL9 COX14 POR DYRK1A FANCE COQ2 IARS1 NPHP3 C1QBP PGAP2 ALG8 TCTN3 ALG9 PKHD1 DHPS MYH3 PIGV RPGRIP1 IGF2 FANCI FXR1 RET HSPA9 HMGA2 MYH11 GLI3 TCTN1 PBX1 SLX4 B9D2 TBCK HBA1 FANCA CDKN1C CSPP1 SLC35A2 H19 FANCL CHRM3 PIGY PLAGL1 RHCE ITGA8 MKS1 MBTPS2 BNC2 RFWD3 RHD KIF14 PHOX2B ERCC4 PDSS2 COQ7 AGT LIFR FARSB TMEM216 RHAG CLTCL1 XRCC2 FANCB RNF2 FARSA HNF1B PLAG1 PIGO FGF20 ACTG2 RNU4ATAC DZIP1L EBF3 NALCN AMER1 ERGIC1 SNRPN CC2D2A DOCK6 LARS2 ASCL1 LHX1 JUP PUF60 RPGRIP1L ALX4 FANCF CPT2 TMEM67 ACE OSGEP FBN1 AGTR1 FANCC CERT1 HYMAI B9D1 PIGW MYLK SEC24D UBE2T FANCG CEP55 DALRD3 RAD51 NEK9 HBA2 TCTN2 GMPPB REN COG5 DSP BRCA1 EFEMP2 INVS UBE2A BRIP1 FANCD2 GREB1L TRIP4 NEK8 TXNDC15 SETD1A DDX6 FANCM PALB2 PGAP3 HS2ST1 TALDO1 TMEM237 MAD2L2 FBLN5 CEP290 RAD51C HP_FETAL_POLYURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FETAL_POLYURIA SLC12A1 CLCNKB GREB1L MAGED2 BSND FGF20 CLCNKA RET ITGA8 KCNJ1 HP_MULTIPLE_IMPACTED_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_IMPACTED_TEETH CDH11 PTH1R SH3BP2 HOXD13 FLNA HP_MACRODONTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACRODONTIA PALS1 JARID2 TBC1D24 MYT1L KMT2E CCDC32 HUWE1 KAT8 DHX37 DPYSL5 HS2ST1 SMOC1 BPTF GRIA3 ZMIZ1 KCNMA1 PUS7 DDX6 PTPN23 VPS51 PURA MED13 UBR7 WASF1 NTNG1 CDK10 IRF6 NTNG2 BRF1 CTCF WDFY3 FARS2 PQBP1 DOCK3 GJA1 RLIM TP63 VPS13B ANKRD11 ACTL6A MAPK8IP3 COL11A1 TRIP12 HPDL SLC12A2 SVBP KCNK9 BRCA1 TANC2 HTT MED27 BCORL1 GRIA4 MGAT2 MSX1 KDM4B MBD5 TNRC6B PSMD12 TRMT1 CNOT3 TRAPPC4 NECTIN1 ACTL6B SATB1 FBXW11 AGO2 TCF20 ATP6V1B2 MADD HP_PRIMARY_HYPERCORTISOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMARY_HYPERCORTISOLISM GNAS PRKACA PRKAR1A MEN1 CDKN1A CDKN1B CDKN2C PDE11A CDKN2B HP_RECURRENT_SKIN_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_SKIN_INFECTIONS PSENEN XIAP IL10RA LCP2 GFI1 UROS BTD NCF1 ZNF341 KNSTRN SREBF1 MBL2 IGLL1 GJB6 CD247 STAT1 LAMB3 GJB2 ITGA6 TFRC CD79B CARD9 ELANE ZAP70 FOXP3 NCF2 KRT5 CYBA IL7 RFXANK NFE2L2 PGM3 DCLRE1C RFXAP DOCK8 EGFR LYST IL2RG CIB1 FERMT3 FOXC2 CFI PSEN1 IKBKB RFX5 BTK SYK MYD88 SHANK3 PIK3CD CIITA TMC6 CLEC7A JAK3 CHST14 SRP54 KRT14 BLNK POLR3A CYBB MRTFA IL17RA EPG5 FERMT1 HYOU1 CARMIL2 GATA1 IGHM LRRC8A WDR1 STAT3 IL17F LAMC2 DSE MVK IL6R ADAM17 ITGB4 CD3E KRT1 MMP1 GJC2 AP3B1 TCF3 AIRE COL7A1 UROD USP8 CTSC PIK3R1 LAMA3 CD79A GINS1 FOXP1 TMC8 DSG1 CDH23 CD3D UBE2A TCIRG1 SP110 PKP1 IL2RA NFKB1 HP_REDUNDANT_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUNDANT_SKIN RTL1 GTF2I KRAS FBLN5 GTF2IRD1 HPGD CLIP2 PEX1 SLC25A24 FOXC1 ABHD11 GGCX GORAB SLC6A8 ANTXR1 ELN SLC2A10 AEBP1 NDUFB11 EIF4H RIN2 LAT2 HRAS NAA10 STX1A PYCR1 BRAF FGFR3 WDR37 MRPS16 BUD23 EZH2 EFEMP2 METTL27 TBL2 TWIST2 DLK1 LIMK1 CLDN3 MAP2K2 PITX2 BAZ1B PTDSS1 ALDH18A1 OTUD5 NPR2 NDUFB10 GPX4 FIG4 SUZ12 ADAMTS2 TBX15 MRPS22 MAP2K1 VAC14 MEG3 CSPP1 SH3PXD2B GTF2IRD2 ALG12 DSE EXT1 ATP6V1E1 ATP6V0A2 NCF1 ATP7A TRPS1 KIAA0586 RFC2 FKBP6 NSD1 COL3A1 CLDN4 DNAJC30 VPS37D CHST14 MLXIPL CEP55 ATP6V1A RPS6KA3 TMEM270 CD96 EED FGFR2 BCL7B FGF20 HP_ROTARY_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ROTARY_NYSTAGMUS SLC16A2 ERLIN2 MPC1 PPP1R21 GJC2 ACBD5 TELO2 PLP1 LYST PNPO NPHP4 PPP2R5D GFER HP_BELL_SHAPED_THORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BELL_SHAPED_THORAX XYLT1 CANT1 KIAA0586 FGFR2 IFT172 COL1A2 TBX15 PAM16 UBE3B SNRPB FLNB BMPER COL11A2 PEX1 SLC26A2 DYNC2I2 CSPP1 KDELR2 COL2A1 DDR2 COL1A1 ANTXR1 CEP120 HHAT PAX7 INPPL1 COL11A1 DDRGK1 HP_SELECTIVE_TOOTH_AGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SELECTIVE_TOOTH_AGENESIS ATR CDH1 MSX1 CDH3 LRP6 WNT10B ATP6V1B2 FGF3 IRF6 DLX4 GJA1 TP63 TGFA AXIN2 GLI2 GREM2 B3GLCT CEP152 DLX3 FGFR1 DDX59 FLNA DLG1 BCOR RIPK4 SUMO1 EIF4A3 NAA10 NEK1 ARHGAP29 EDA WNT10A BLM EDARADD PAX9 BMP4 NECTIN1 HP_ABNORMAL_HAIR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HAIR_MORPHOLOGY RNU4ATAC TRPS1 CCDC32 RAG1 NRAS SATB1 DUSP6 MGP COLEC10 TENT5A NTRK1 ALX3 CCDC47 KMT2D PTPN22 VPS51 TARS1 KANSL1 KISS1 FOS ABHD5 LAMB3 TP53 TCTN3 RERE RTEL1 WDFY3 MBTPS2 DOLK STN1 ERCC8 MITF CDH3 EGFR CEP41 KRT1 SMOC1 KAT5 TYRP1 AGPAT2 ANKRD11 AIMP2 GJA1 CBL SPEN MT-TS2 MAP2K1 XYLT2 KRAS MAP1B KREMEN1 ZEB2 GJB2 ACVR1 SIN3A ASPM SOS2 ZSWIM6 FOXE1 INPP5E NXN EDARADD LMNA KCNMA1 BCS1L SOS1 MAP2K2 SREBF1 PLEC SNRPN CCDC141 RAC3 HUWE1 FIG4 TP63 CACNA1F HFE PRKCZ TACR3 PARN KANK2 RMRP TYR VAC14 MAP3K1 HNRNPU MEG3 MYO5A DOCK7 MED12 ARSB PEX7 AHCY UQCRFS1 TACO1 ERCC2 EXT2 PQBP1 EXT1 RPS29 MED13 RPS10 TMEM237 ATP7A CREBBP CERT1 FOXL2 INSR DSG4 EDN3 CDKN2A DSP ZIC2 PPOX UROD DPH1 FAM149B1 UGDH SETBP1 AEBP1 ZIC1 GNS NF1 ALOXE3 RPS24 CHN1 NAA10 JARID2 TBL1XR1 BICRA ARID2 BMP15 AHI1 SLC35C1 NR3C1 ECM1 ZMIZ1 SLC9A6 FAT4 PGAP1 FBXL4 KDM5C DMPK PGAP2 FUCA1 GDF11 ZNF711 SRCAP SIN3B SLC30A2 PET100 SHOC2 ARID1B SOX10 GLI1 SPRY4 NDUFA12 PACS1 KIFBP LIPH MAGEL2 NDUFS3 SMARCA2 CDH11 ATR MGMT LYST MED27 IDUA ECEL1 FGFR1 BRD4 RAG2 NKX6-2 MTX2 RAI1 AFF4 KDF1 GLI2 PPP1CB ABCA5 HNRNPH2 LHX4 SETD5 FAR1 ODC1 FGFR2 TBX4 HSPG2 DLL4 TBCD EHMT1 SDCCAG8 KAT6B ERLIN2 SNRPE FOXN1 SOX9 ZMPSTE24 DISP1 RALA KCNN3 SPIDR STAG1 NDN DCAF17 PWAR1 ADAT3 ATP6V1E1 CYP17A1 SUFU ARHGEF2 NOTCH1 CANT1 POLR1C KRT14 CLDN1 PPARG VPS13B CDH23 EIF5A CEP57 FGFR3 EXOC8 MN1 RAF1 IL2RA NMNAT1 UBR1 RPS28 SMPD4 CERS3 RIT1 MEOX1 HLA-DRA RPL18 SLC25A24 ABCC9 ATRIP RAB3GAP2 BBS12 BCOR KRT74 SOX18 CYP11B1 LPAR6 GAN STAT4 TCOF1 LSS FGD1 TMEM216 ATP6V0A2 ALX1 TBCK PERP RAC1 MID1 AIP HPDL TRAF6 SNAI2 IFT43 BBS5 MBD5 CEP104 MASP1 MC1R RNF113A NFIX CBS VAMP7 BLM PIGL SEC23A CLCN7 TRAPPC9 CKAP2L SLC6A9 CUL4B CAV1 STING1 TSR2 GJB4 HS2ST1 PPP1R15B DEAF1 ZC4H2 CWC27 UBE3B PUS7 PAH COLEC11 MT-CO1 PTEN TUBGCP4 CYB5A PIGS SLC39A4 PDE6D XPA SPECC1L SUZ12 TFAP2A WDR19 ADAM17 RLIM KDM4B IKBKG AP3B1 PIGW FOXP2 AIRE TTC37 USP8 ITGB4 OCA2 DDB2 CRKL FOXP1 IFT172 CTNND1 WNT10A FEZF1 FMR1 HRURF IFT122 GTF2H5 BCORL1 NEU1 ORC6 DDX6 PIGG COG7 NFKB1 KIT SMAD4 DLX3 SEMA3E ZNF341 EVC AP3D1 KCNE5 DKC1 SCUBE3 DSTYK LETM1 SMARCE1 KRT86 IFIH1 ABCA2 VDR TRIP12 WDPCP RPS19 SLC35A2 SCO2 DNMT3A CPLANE1 SMARCA4 SUCLA2 LAS1L SMC1A KATNIP MAPK1 LRMDA OFD1 SPP1 PYCR2 SLC24A5 RPL11 XYLT1 TMEM67 DPYSL5 OTX2 ARX TINF2 ALG9 GDF3 SMC3 LZTR1 AHSG RALGAPA1 FGF8 SGSH STUB1 ESCO2 PEX19 TTC8 POR NDUFB8 CTDP1 TERC AP3B2 TWIST1 PCNT PHGDH MSX1 DSG1 MAPRE2 PLOD3 NPHP1 PPP2R3C RPL21 RET TTI2 FSHR KDSR WDR35 KRT6A GNRH1 LMNB1 KMT2E HMGA2 SURF1 KCNJ8 WRN KRT6B INTS1 SLC45A1 ARL6 AMMECR1 TERT RBBP8 SLITRK1 EBP EXOSC2 SOX3 SPOP DDB1 DNAJC21 BPTF NR5A1 MED25 UROC1 ZNF469 EDAR SPTBN1 DCLRE1C BANF1 P4HA2 RAB18 CDH1 POMC GDF6 ASL FREM2 CDK4 MGAT2 PRKD1 NUP188 PLCD1 ZNF423 LTBP3 FBXO11 OTUD5 IL7R TUBB GUSB ATP1A2 SATB2 PTPN23 SMS RPS20 SMARCC2 SLC45A2 TERF2IP MADD PIGN MKS1 ADNP DVL3 PEPD LIPT1 SLC19A3 CACNA1G SOX6 TGM1 CLP1 FOXA2 CEP120 COL3A1 NFKB2 FLNA CTLA4 MAB21L2 SUMF1 CDH2 HDAC4 ATP6V1A PSMD12 CHD7 ANTXR1 EPS8L3 AGO2 CLCN6 POC1A KRT10 SHH LZTFL1 SLC9A7 RPL27 CWF19L1 POLR1D KIAA0586 WDR11 CAMK2G RPS23 ANAPC1 ARL3 LMNB2 SOX11 AXIN2 ORC1 TLK2 ACTG1 WASF1 BSCL2 LAMA3 DENND5A ZFPM2 STAG2 FOXP3 PSMC3 BRAF HESX1 DPAGT1 HERC1 UBE4B HLCS RUSC2 TCHH CEP290 ABCA12 FBN1 PLK4 FRMPD4 PIBF1 SCARF2 TCF20 NSMF PKP1 KRT25 PUS1 GATA1 LAMC2 KRT5 ST14 KAT8 LHB B9D1 PHF8 GPRASP2 UBE3A ELN PLAA GTF2E2 GNA14 SIAH1 ZNF462 KATNB1 SDHA ALX4 FOXRED1 CSPP1 HPGD TBC1D20 WAC TBC1D24 ZNF292 XRCC4 KCNK9 TAF6 KCNH1 B3GLCT ATP10A KIAA0753 LIG4 COX7B ERCC6 FZD2 NDUFAF5 TRAPPC4 BBS2 DSC3 TAC3 CTC1 HPS6 MMP2 PRKAR1A DMXL2 CNOT3 DLX4 MT-TS1 MAFB RBPJ KIF11 KNSTRN SPINK5 RBM28 SLC6A17 NTNG1 TRIO NUP107 FLII TBX3 DNMT3B ELMO2 RPL35 TWIST2 TRMT10A RPL35A LMX1B RAB3GAP1 GLB1 SLC12A2 NDUFB11 WNT5A CCDC28B PSAT1 PIGY NDUFA2 LAMTOR2 ACSL4 WT1 SNX10 PADI3 SHMT2 TMCO1 SRY AXL EP300 MT-TH MTFMT SMCHD1 IRF6 KRT71 TBX2 BAP1 POT1 FRMD4A SETD1B MMP1 HLA-DRB1 NOP10 ATP2A2 ADAMTS3 MED13L YY1 HDAC8 CD28 PEX6 MRPS22 MLPH DTNBP1 GJB6 EDNRB HSD3B2 SMARCD1 HPD GNRHR MKKS MT-ND4 C12orf57 ABCD1 SOX4 AP1B1 ALOX12B AP2M1 FLI1 SMARCD2 RAB27A CHRNA7 POLR3H NIPAL4 MCCC2 CDKN2B LHCGR NDUFA9 MAN2B1 NBN HSPA9 POLR1B PREPL BNC1 CEP152 MSTO1 B3GALT6 TUBGCP2 KISS1R MT-ND1 CAVIN1 RPS7 CYP19A1 HLA-B HPS3 IL2RG FRAS1 BCL11B PRDM5 KRT81 ARHGAP31 NDUFA4 MESD DPF2 RNF2 CCBE1 CDON NDUFS1 ADAMTS2 LRP2 DHCR7 USB1 ALG12 MOGS JUP CACNA1A VPS35L TCIRG1 COL7A1 NSD1 CDK19 RASA2 NPAP1 PNPLA1 IARS2 SPATA5 CTU2 GABRD DLK1 SMO SNORD115-1 CC2D2A ERCC3 A2ML1 HERC2 GATAD2B BBS1 MT-ND6 TUBGCP6 HNRNPK APC OBSL1 KMT2C RIPK4 RPS6KA3 HPS1 LRP1 CDK13 TECPR2 EZH2 ASXL2 SLC6A1 RPS27 ATP6V1B2 ALDH18A1 TCTN1 AKT1 GRIP1 BBS9 CTBP1 NOTCH3 ACTB OTUD6B KRT83 SCAPER CPOX STXBP1 NANS ZNF699 CTCF ROR2 PHIP MTAP MTOR YARS2 PROK2 SLC7A7 COG4 FGF17 POP1 BTK ERCC4 FDFT1 APCDD1 BRCA1 PDGFRB PIK3C2A RRAS2 MT-TW ACD NEXMIF COG5 CD96 UBE2A HR PRRX1 SCN1A ATM ARID1A RECQL4 PPP1R21 B3GAT3 ACER3 COX5A DVL1 SUOX SRA1 MPLKIP CDC45 KRT17 CDK10 WDR81 TRPV3 HEPHL1 HRAS NDUFS2 PACS2 SVBP RRAS TMEM94 CASR TANC2 APTX PPP2R1A FGF5 KAT6A NDUFA13 SNORD116-1 PSMB8 CYFIP2 SLC12A6 STAT3 IGF1R AR SIM1 TBX15 PWRN1 AUTS2 TGM3 KNL1 ERMARD MAB21L1 CFAP418 MKRN3 DOCK3 MT-TF SLC27A4 FAM111B PAX3 TTC7A EDEM3 TRIM32 CEP19 SMARCB1 PDPN ECHS1 CHD1 GATA4 RPL10 BMP2 SLCO2A1 POLR3A ARMC9 HS6ST1 DYNC2LI1 KMT2A CHRNG EMC1 IDS PROKR2 KDM1A CHST3 NELFA CHD2 LRPPRC FSHB TNFSF11 BLOC1S3 FOXC2 NFKBIA B4GALT7 BBS7 H6PD KLHL24 ALDOA SIX3 GJB3 HECW2 RAD21 EDA TRAIP CDSN ZBTB20 EPG5 SON CDKL5 DOCK6 NEK1 CDC42 LUZP1 TGDS SRD5A3 RPS26 GNE DPYD ACTL6A MAPK8IP3 XPC TAF1 ATP1A3 CTSC SZT2 CCNK PDE4D OGT NOTCH2 PDHA1 DCT PROP1 FRG1 PAPSS2 ZPR1 MT-TL1 HCCS ITGA3 SMARCAL1 THOC6 CLMP MEGF8 KDM6A NHP2 MT-CO2 VARS1 CAMKMT NDUFAF6 WDR26 CCDC22 CCDC8 NEPRO BTNL2 NDUFA10 UQCC2 NDUFV2 SLC2A1 MYO18B CHSY1 ASXL1 ANKRD17 SETD2 SALL4 NEK9 NDUFV1 IQSEC2 MMP14 SKIV2L WNT10B RPGRIP1L MT-CO3 RIN2 ALMS1 GNPTAB VPS33A MRAS MAF STAMBP HPS5 IGF1 WRAP53 FREM1 UROS DUX4 ARMC5 RNF125 ADA TMEM231 PTDSS1 BRF1 CSTB EDA2R STRADA KCTD1 DSC2 EED NDUFAF2 SNX14 PCSK1 GNB2 ADA2 ITGB6 GNA11 RTL1 MAN1B1 APOE GPR101 MMP23B SF3B4 COL17A1 CRIPT UBR7 DHX30 FAM20C CTNS NECTIN1 EFNB1 GRIA4 ARL13B CENPE AIFM1 ACTL6B SHANK3 DMRT3 PYCR1 CBY1 SYT1 MEIS2 LARP7 CARS1 KCNK4 PORCN WNT4 COL1A2 OAT FGFRL1 WWOX DPM2 CPLX1 MED12L COL18A1 PHF6 RPL26 PUF60 IL1RAPL1 GSN NDUFS8 BCR BBIP1 POLA1 OCRL PRKCD TASP1 PSMC3IP SHROOM4 TALDO1 BRCC3 PURA PTPN11 HLA-DQB1 TMEM138 MEF2C ERCC5 TCTN2 NOVA2 NECTIN4 SLC29A3 WBP11 NIPBL CUL7 NSDHL SASH1 SEC31A COX15 NSUN2 FHL1 RPL15 IFT52 IRAK1 SULT2B1 MYH3 STIL EDNRA PIK3CD AASS NDUFS7 PIGK PIK3R1 KIF7 PIGU VPS37A HOXC13 EVC2 KRT85 RPL31 LIPN POU1F1 RBM10 USP9X LEMD3 SLC1A3 MT-TQ CAPN15 CYP4F22 NR0B1 COPB1 TRMT1 CSNK2A1 BLOC1S5 BBS4 RPS17 FBXW11 BTD NSD2 GAD1 MYT1L RPS15A EOGT SDR9C7 GLI3 SLC3A1 HYLS1 PIGV HGSNAT IFT27 FAS ATAD3A TRNT1 ADARB1 APC2 NAGLU HPS4 FBXO31 EMC10 CDK5 CNOT2 MDM2 IFT74 IRX5 CHMP1A MEN1 RPL5 NFIB TNFRSF1B RHOA TOGARAM1 SRD5A2 NDUFAF3 NUS1 INTU AFF3 SYNGAP1 HBA2 NPM1 ANOS1 GTPBP2 GNAS PGAP3 PALS1 TFAP2B FGF3 CNBP SH2B1 PCGF2 SLC17A5 TCF12 CNP BMP1 FUT8 HTRA1 KCNAB2 PNPLA6 ASXL3 SPRED1 MLXIPL PRKACA KITLG MT-ND5 NBAS WASHC5 SKI TRRAP PEX1 COG6 UGP2 PIGO PPM1B EBF3 TSC1 CASZ1 PRDM16 NTNG2 HBA1 COL11A1 CENPJ FTL SLC1A4 ANTXR2 HLA-DQA1 CST6 HTT DHX37 NDUFS4 TNRC6B KRT16 KLF13 MAP3K7 BBS10 HP_ALOPECIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALOPECIA GJB6 DMXL2 CERS3 RAG1 NRAS ARHGAP31 MGP EPS8L3 RBPJ WNT10A UROS ITGB6 EOGT LMNA KRT6B HLA-DRA GNA11 PTPN22 PARN NFKB2 KRAS RBM28 TERT SLITRK1 EBP OFD1 EXOSC2 ABHD5 LAMB3 MBTPS2 SOX18 COL17A1 TERC FOXP3 CYP11B1 EDAR ECM1 DCLRE1C STAT4 NHP2 GJA1 LSS P4HA2 KANSL1 PLEC NIPAL4 DSG4 PERP WNT5A GJB2 IL7R ACVR1 DCAF17 TP63 KLHL24 RNF113A NXN BCS1L GJB3 CWC27 FOXN1 HFE MMP1 HLA-DRB1 PORCN KRT83 TNFRSF1B DKC1 GATA1 NOP10 ITGB4 ERCC3 SLC39A4 RHOA XPA ROR2 COL18A1 CHD7 ZMPSTE24 AHSG PEX7 HRAS UQCRFS1 ERCC2 LAMC2 RAG2 TGM1 IKBKG CD28 TINF2 BTK ERCC4 SNRPE APCDD1 XPC AIRE COL3A1 KRT14 CTLA4 UROD NPM1 LAMA3 DDB2 AEBP1 HRURF DSP FGFR1 ANTXR1 KRT17 HR PRKCD GTF2H5 ALOXE3 NFKB1 ABCD1 RECQL4 ZPR1 HLA-DQB1 AP1B1 ALOX12B BTD FLI1 ZNF341 CLDN1 SREBF1 DVL1 HLCS GJB4 TGM3 ERCC5 MPLKIP LPAR6 KDM5C DMPK SLC30A2 NECTIN4 MCCC2 SLC29A3 TRPV3 KRT86 HEPHL1 KRT5 NSDHL HTRA1 LIPH SASH1 BMP2 VDR PNPLA6 BTNL2 SMARCA2 ATR CASR IRAK1 PRKACA TARS1 MTX2 EDNRA ABCA12 HLA-B RIPK4 IL2RG SPP1 PIK3R1 KRT81 ODC1 RIN2 ALMS1 DLL4 DVL3 KRT85 ALX4 GTF2E2 RTEL1 WRAP53 JUP FTL USB1 EDARADD RNU4ATAC STUB1 MOGS NOTCH1 KRT74 HLA-DQA1 ADA COL7A1 CTC1 DOCK6 BLM ANAPC1 CSTB SLC27A4 PNPLA1 FAM111B PADI3 LIG4 NECTIN1 TTC7A FZD2 RPL21 KRT16 RMRP KDSR PKP1 IL2RA KRT6A UBR1 HP_ABNORMALITY_OF_THE_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NAIL RNU4ATAC TRPS1 GTF2I SLC35D1 LAMB3 PIGA SATB2 NTRK1 KCNH1 KRAS GLI1 LMNA KRT6B GNA11 DPM1 BMPER GJB6 RTL1 ANGPT1 CDH1 TERT COL7A1 EBP CD151 GPR101 ITGA6 DNAJC21 EDARADD MCTP2 RTEL1 COL17A1 MBTPS2 TSPAN7 RIPK4 PPP2R5D RPS6KA3 EDAR KRT1 INSR NHP2 GJA1 ATP2A2 TP63 NIPAL4 CDKN1C GJB2 CTSK TSC2 TGM1 NECTIN1 FLNB EFNB1 NOG AIP SLURP1 HGD PRKD1 PPM1D EZH2 PLAGL1 KCNA1 NXN PIGP TBL2 GPC4 SHANK3 NOTCH1 KDF1 PLCD1 PQBP1 MAP2K2 CLEC7A CWC27 SREBF1 PLEC OTUD5 AKT1 ENG ABCA1 WRAP53 PIGN FIG4 COL11A1 CDIN1 ITGB4 CAST HFE CDKL5 PLAG1 CASK TSC1 PARN FZD6 PORCN KANK2 VEGFC KRT83 DVL1 DKC1 STXBP1 VAC14 ROR2 ZSWIM6 MEG3 GPC3 ADNP LRP4 ERCC2 EXT2 LAMC2 FGFRL1 SIK1 CPLX1 LBR IRF6 NCF1 HUWE1 POP1 TINF2 HYMAI SMARCC2 KIF15 NFKB2 DNAJC30 TBX4 GSN ATP6V1B2 CTLA4 DSG1 DPH1 TAT FLT4 BCR DSP PSENEN FGF9 UBE2A FGFR2 BCL7B GTF2H5 KRT14 ALOXE3 EVC2 ARID1A POC1A SLC39A4 RECQL4 DMXL2 LMX1B BICRA ARID2 RERE CAMK2G TRIM8 NOP10 PIGB RSPO4 RAB3GAP2 ANAPC1 SOX11 GJB4 ORC1 ACTL6B MPLKIP LAMA3 KRT17 PGAP2 SIN3B UBR1 CARD14 NSD1 ANTXR1 NECTIN4 ELN ARID1B TRPV3 TRAF3IP2 RUNX2 IL17RC NOTCH2 HEPHL1 RSPO1 ACAN NSDHL EIF4H FLNA PNKP HRAS RAB7A HMGA2 SASH1 GLI3 GDF5 NSUN2 ZBTB20 BRAF STK11 ATR AFF4 CASR FHL1 PEX6 IFT52 SETD2 SULT2B1 KCTD1 TARS1 BUD23 MTX2 CCDC22 ABCA12 GJC2 SETBP1 EVC PPP1CB CLDN3 MYOF PKP1 SCN9A FGF10 TBC1D24 PTDSS1 KRT86 KRT5 POMP NPR2 ODC1 STAT3 UROD DLL4 HOXC13 TBX3 KRT85 IKBKG GTF2E2 PDE4D FERMT1 MAP2K1 FOXN1 ZMPSTE24 TREX1 PIGO LIPN SIAH1 KDM1A ZNF462 KCNN3 IL36RN MACROH2A1 CPT2 HPGD DST KRT74 CYP4F22 CTC1 FOXC2 SRY FAM111B COX7B POFUT1 COL11A2 TTC7A AP1S3 EIF5A ATL1 FZD2 WASHC5 TMEM270 DSC3 RAF1 SMARCAD1 CERS3 TFAP2A WDR73 ARHGAP31 RBPJ BMP2 PIGL EOGT SLCO2A1 GTF2IRD1 POLR3A KIF11 SDR9C7 ACD INPPL1 DYNC2LI1 SLC25A24 SPEN CCDC32 TERC FOXP3 PIGQ NSD2 PIGV ACVRL1 IFT43 TELO2 BMP4 SCN1B DSG4 NDUFB11 PRKACA WNT5A TRAF6 APC2 PRKAR1A FGFR3 PERP PIGY DPF2 FTO EED KLHL24 RNF113A METTL27 PEPD FTL CYB5R3 SHOX GJB3 SMARCB1 MSX1 STING1 GNAO1 HLA-C RNF13 IHH MAF DLX3 MMP1 PTEN UMPS PIGF TNFRSF1B DOCK6 FGFR1 ERCC3 KRT16 ECE1 BMPR1B IFNG EDA SMARCA2 WDR19 GRHL2 ADAM17 WDR35 IFT122 SIN3A DPYD CD28 MVK RFC2 IL17RA PIGW KIF1A AIRE FUCA1 ACTG2 APC TAF1 SF3B1 CTSC CYB5A NPM1 IL17F CRKL WNT10A SMARCD1 SLC25A22 PGAP3 IL11RA JUP ADAMTSL2 KRT9 SOX4 CTBP1 DHX37 HOXA13 NLRP1 AP1B1 PRKACB ALOX12B SHOC2 ATP6V0A2 SMARCD2 HCCS ITGA3 CLIP2 CDSN SCN2A ABHD11 SOX18 AAGAB CKAP2L LETM1 NEUROD2 SMARCE1 LORICRIN IGF2 IFIH1 WNT7A COL14A1 ALG3 LAT2 CENPT PHYH STX1A NEPRO RLIM EGFR B3GALT6 WNK1 TET2 SMARCA4 MLXIPL BHLHA9 PEX1 RETREG1 MAPK1 LIMK1 TRRAP BAZ1B KRT81 SUZ12 PEX7 ARX DVL3 LIG4 POGLUT1 STAMBP USB1 GTF2IRD2 ALG12 SOST OFD1 LPAR6 KRT6A PITX1 FKBP6 CLDN4 BLM VPS37D CSTB PNPLA1 RAB3GAP1 PLOD3 TCTN3 DLX5 KDSR DLK1 CSTA STIM1 HP_CONCAVE_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONCAVE_NAIL MPLKIP MSX1 HRAS PLCD1 TARS1 KRT1 LMX1B TRPS1 SLURP1 ERCC3 RNF113A GTF2H5 ERCC2 HOXC13 EDA GTF2E2 HP_ABNORMALITY_OF_THE_LARYNX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_LARYNX RPL10 RTL1 PPARGC1A AHDC1 COL12A1 TAF15 LMNA HYLS1 DDRGK1 KANSL1 CHMP2B HOXD13 LAMB3 CFAP410 TBX3 RSPO2 C2CD3 ARSL LONP1 SOX9 SPTBN1 DYNC2I1 EFL1 GLI3 TARDBP VAPB SERPING1 IFT80 NLRP1 ADARB1 MATR3 SCN4A FREM2 TBK1 GABRG2 NIN FGFR3 MGP DYNC2I2 PLG MSH6 PTH1R WNT3 GIPC1 ANXA11 SEMA3E DYNC2H1 EP300 KRAS SYT1 KIF7 ANO3 GRIP1 ANG MKS1 HDAC4 MAP3K7 PON1 GALC KCNMA1 UBE3B CHEK2 HSPG2 CAT AMER1 PKDCC NFIX NEK1 MLH1 BRF1 PLP1 GLE1 ZNF699 FGFR2 MEG3 MSH2 PRRX1 LAMC2 INTU UBQLN2 HS3ST6 LBR FLNB FUS CASR APC LAMA3 SLC26A2 CDKN2A SETBP1 TAF1 MDM2 PRMT7 CHD7 ORC6 LRP4 SEC24C SPECC1L FOXE1 SMAD4 COMT GMNN WRN JMJD1C SQSTM1 SNIP1 POR WDR35 ATXN2 C9orf72 KIF22 RSPO1 KRT5 CHCHD10 TREM2 UNC13A VPS13B ATP6V1E1 FIG4 TP53 ASXL3 AFF4 HNRNPA1 PORCN VCP EDN1 EIF4A3 RAI1 KAT6A HIRA DLK1 SCARF2 CCNF CREBBP FRAS1 FGF10 PFN1 SF3B4 TBX1 DCTN1 PON2 KRT14 MYMK POLR3A UFD1 SOD1 KAT6B FERMT1 PON3 DHCR7 SIAH1 PUF60 LTBP4 RALGAPA1 GLT8D1 OPTN ERBB4 SOX4 SATB2 GP1BB EPHA4 MEIS2 TONSL EXTL3 TSPYL1 FLNA DAO ARVCF CAPN15 NEFH SRPX2 PRPH MT-CYB PCNT RREB1 ASAH1 TCTN3 GRIN2A PSAP HAAO LTBP3 RAF1 BTD LRP12 HP_LARYNGOMALACIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARYNGOMALACIA TBX1 SEC24C RPL10 RTL1 KRT14 AHDC1 COMT POLR3A GMNN HDAC4 COL12A1 LMNA WRN GALC KCNMA1 UBE3B JMJD1C TBX3 CREBBP HYLS1 UFD1 HSPG2 POR KAT6B KANSL1 PKDCC NFIX HOXD13 BRF1 ZNF699 MEG3 SIAH1 LTBP4 RALGAPA1 SOX4 SATB2 GP1BB KRT5 MEIS2 SOX9 EFL1 VPS13B ATP6V1E1 FGFR2 ARVCF ASXL3 APC AFF4 ADARB1 SETBP1 PCNT RREB1 EP300 PRMT7 TCTN3 CHD7 KAT6A ORC6 PSAP HIRA SEMA3E DLK1 SCARF2 LRP4 RAF1 SYT1 KIF7 HP_LARYNGEAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARYNGEAL_STENOSIS FRAS1 FERMT1 FLNB LAMB3 GRIP1 MYMK SMAD4 KIF22 LAMC2 LAMA3 FREM2 SLC26A2 EXTL3 DDRGK1 HP_VOCAL_CORD_PARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VOCAL_CORD_PARESIS TRPV4 SLC5A7 PRX LONP1 GIPC1 MATR3 GDAP1 MFN2 HP_VOCAL_CORD_PARALYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VOCAL_CORD_PARALYSIS SDHD SDHC LONP1 MATR3 TRPV4 SLC52A3 MYCN PMP22 ELN DKK1 ATXN3 MFN2 VHL PRX DLST FHL1 ZNF699 SYNE1 SLC5A7 LMNA RET EPAS1 SDHA MAX FH SYNE2 GDAP1 TMEM127 SDHB POLA1 DNMT3A SLC25A11 TMEM43 TRIM2 DCTN1 MLXIPL SETBP1 KIF1B SDHAF2 GIPC1 TRAPPC12 EMD NF1 SH3TC2 MDH2 HP_SUBGLOTTIC_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBGLOTTIC_STENOSIS FRAS1 FLNA EFL1 GRIP1 TBX3 MAP3K7 AFF4 LTBP3 TONSL FREM2 SNIP1 NIN HP_ABNORMALITY_OF_THE_VOICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_VOICE GNRH1 SDHD C1R KMT2E TRPS1 CCDC32 NF1 GTF2I HDAC8 LEMD3 THAP1 CIZ1 DCTN1 SELENON HERC2 SEMA3A SLC18A3 TPM3 LMNA GRIN2A KRT6B COL6A3 TUBB4A RTL1 ATXN3 DDRGK1 VHL KANSL1 KISS1 GNAS LAMB3 TGFBR2 SLC18A2 GPR101 SRPX2 ANOS1 DNAJC6 RAF1 PMP22 WDFY3 IRF6 SH2B1 TP63 ECM1 HMBS SPTBN1 P4HB GDAP1 STX16 AGA SDHB CHRNE MT-ND1 SIN3A IFIH1 FAM111A SAMHD1 TSHB AIP GABRG2 GRIA4 MYO9A WDR11 FGF8 MGP MT-ND4 GRHL3 EZH2 GBA PLXND1 GIPC1 CHRNA1 ACTL6B KCNMA1 TBL2 MEGF10 TRAPPC12 GIGYF2 MT-ND2 HACD1 SDHC TACR3 HUWE1 CCDC141 MAPT GNAL BPTF PYROXD1 MSX1 PTPN23 SMS BRAF SNCA HSPG2 UBR7 NDN NALCN EIF2AK2 GHR GPC4 PIGN ZNF699 ZFYVE26 DLEC1 MEG3 SLC5A7 MED12 COL13A1 ERCC2 MYOT LAMC2 PQBP1 PROK2 CDH1 MAX TPM2 GLUD2 ZDHHC9 NCF1 FGF17 TBP HPDL DNAJC30 IL1RAPL1 DNMT3A SYT2 BCORL1 KDM4B SRCAP SETBP1 FBN1 SNRPN HESX1 PSMD12 SLC25A1 ADAR BCL7B OCRL GTF2H5 AGO2 LMNB1 IQSEC2 DYNC1I2 POC1A RAD21 LTBP3 ITGA7 MDH2 JARID2 SPEG SEC24C TBX1 PAX8 SPECC1L NEFH COLQ PPP1R21 SIL1 CWF19L1 COMT PREPL TK2 MT-ND5 MYH14 ZMIZ1 JMJD1C TRH POMT1 MPLKIP WASF1 TSHR FBXO7 KRT17 CYP27A1 ATXN8OS SH3BP2 UBB ARHGAP29 CHAT SHOC2 ELN MAGEL2 TREX1 LAMA3 NOTCH2 NIPBL RYR1 ACAN EIF4H UPF3B SPRY4 RIN2 HRAS FLRT3 SEC31A COQ9 FTL NONO SVBP FHL1 TANC2 MT-TK ACTA1 MED27 SYNJ1 FGFR1 KIF1B BRD4 TARS1 BUD23 CNOT3 PNPO RAI1 MFN2 ATG7 HIRA SNORD116-1 FKRP B4GALNT1 TCF20 CLDN3 NSMF PTPN11 FLNA NECTIN1 ALDH18A1 DNAJB2 FIG4 KAT8 MYH7 TSPYL1 IGF1R KRT14 AR MATR3 PHF8 CRYAB GTF2E2 LAMA2 XRCC4 GMPPA PRX PWRN1 RAPSN FKTN ORC4 MYH3 SLC2A3 GFPT1 DUSP6 MKRN3 TONSL DOCK3 VPS35 PWAR1 RET EPAS1 SOD1 FH BAG3 ARVCF CAPN15 KCNK9 SEC24D OPA1 LRRK2 AFF2 FEZF1 SLC25A11 TRIM2 VPS13B TTN SDHAF2 LAMB2 RREB1 INPP5K REV3L TRMT1 TMEM270 TRAPPC4 SATB1 TAC3 FBXW11 TRPV4 PRPH MADD MYT1L SIM1 TFAP2A LONP1 DLX4 NLRP3 HS6ST1 EXOSC9 ATP6AP2 GTF2IRD1 MYCN DEAF1 DKK1 NTNG1 FLII RARS1 SLC3A1 ESS2 SERPINH1 STAT5B ADH1C GNAI3 TRMT10A IDS PROKR2 BMP4 MYL2 MT-ND3 POMGNT1 STAG2 EIF4G1 ATP6V0A2 SLC12A2 TMEM127 B3GALNT2 KMT2B MECP2 TMEM43 VPS13A TRIP4 CHD7 CNOT2 RNF113A METTL27 MAPK1 SOX10 TOR1A ARID1B BLM MGME1 DGCR8 MDM2 NOTCH3 SH3TC2 TTC19 MORC2 HS2ST1 PPP1R15B ABAT MYPN ITPA PUS7 IGHMBP2 AMER1 PCNT KCTD17 DLST MT-TW ERCC3 RNASEH2B ZMPSTE24 GPC3 BIN1 CTNND2 ALDH4A1 PLEC SRD5A2 EDA PRKRA RLIM SYNE2 OCA2 ACTL6A DNAJC13 RFC2 MAPK8IP3 TRIM37 FOXP2 GMPPB POLA1 GALT FOXP1 FMR1 TGM6 SEMA5A LARGE1 PALS1 PLCB4 PANK2 ADAMTSL2 GNPTAB LIFR RNASEH2C SMAD4 ASAH1 GARS1 WRN CLIP2 SMARCAL1 SNCAIP DGUOK SERPING1 FUZ DUOX2 ABHD11 POLG MT-ATP6 SNAP25 RNASEH2A IL17RD ERCC4 DGCR2 GNRHR SYNE1 DCC POLD1 KRT5 THRA ADGRG1 CAMKMT LAT2 STX1A SCN4A NEU1 TRIP12 AGRN SNRPB KISS1R MLXIPL EIF4A3 DGCR6 SDHA NLRP1 FRRS1L TWNK RBBP8 POMT2 BSCL2 RNF6 LIMK1 SLC19A2 MTX2 BAZ1B DPYSL5 NDNF SUZ12 MT-TL1 NR4A2 SLC52A3 DDX6 PPM1B UFD1 MED13 ATP5F1A ATXN2 PI4KA SPART VAMP1 UNC45B SMC3 NTNG2 CDC73 SMC1A GTF2IRD2 MT-ND6 ASPA GP1BB GNE AP4E1 TRHR COQ2 FKBP6 CRLF1 NSD1 CLDN4 NPAP1 HTT VPS37D PODXL DLG1 SLC26A2 MT-TV MAP3K20 TNRC6B KRT16 EED WWOX SPG7 DLK1 ALPL SNORD115-1 EMD LRP12 KRT6A HP_HOARSE_VOICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HOARSE_VOICE C1R PAX8 SPECC1L GPC4 GTF2I GNPTAB LIFR LEMD3 RNASEH2C ASAH1 GTF2IRD1 TPM3 ECM1 MYH14 RAI1 KRT6B SDHD DEAF1 TRH CLIP2 RTL1 SERPING1 DUOX2 DDRGK1 ABHD11 MFN2 KRT17 FLII LAMB3 GPR101 RNASEH2A SHOC2 ELN TREX1 LAMA3 KRT5 THRA IDS ACAN EIF4H SPTBN1 MYL2 LAT2 HRAS MATR3 STX1A AGA IFIH1 SAMHD1 TSHB AIP MLXIPL BUD23 EZH2 NLRP1 FBN1 METTL27 MAPK1 TBL2 ARID1B SDHAF2 LIMK1 IQSEC2 CLDN3 SLC19A2 FLNA BAZ1B HACD1 KRT14 SUZ12 ACTA1 SPART RNASEH2B PIGN CDC73 MEG3 GPC3 SELENON SDHC GTF2IRD2 LAMC2 EDA GNE TRHR TPM2 NCF1 RFC2 FKBP6 NSD1 CLDN4 DNAJC30 VPS37D AFF2 SLC26A2 MAP3K20 KRT16 TMEM270 EED ADAR BCL7B TRPV4 LTBP3 DLK1 ITGA7 KRT6A HP_NASAL_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NASAL_SPEECH PALS1 JARID2 SEC24C MYT1L TBX1 TPM2 KMT2E CCDC32 TFAP2A LIFR SELENON COMT PREPL HERC2 SLC18A3 ZMIZ1 ATP6V0A2 JMJD1C UPF3B WASF1 NTNG1 KANSL1 SLC18A2 SRPX2 GRIN2A UBB SNAP25 SLC3A1 ARHGAP29 CHAT MYH3 SHOC2 ESS2 DGCR2 WDFY3 IRF6 TP63 BMP4 CAMKMT MSX1 TRIP12 AGRN NONO SLC12A2 SVBP TANC2 SNRPB MED27 GRIA4 MYO9A MGP MED12 GRHL3 DGCR6 CNOT2 CNOT3 ACTL6B ATG7 KCNMA1 HIRA SNORD116-1 MEGF10 MGME1 DGCR8 TCF20 DLX4 NECTIN1 MYOT HUWE1 KAT8 DPYSL5 HS2ST1 MATR3 BPTF PHF8 PYROXD1 MYPN PUS7 DDX6 PTPN23 SMS PPM1B UFD1 MED13 UBR7 NDN NALCN AMER1 GMPPA SNRPN VAMP1 UNC45B PWRN1 NTNG2 COL13A1 PLEC PQBP1 GP1BB MKRN3 DOCK3 PWAR1 RLIM CDH1 ZDHHC9 ACTL6A MAPK8IP3 BAG3 HPDL ARVCF CRLF1 NPAP1 IL1RAPL1 HTT SYT2 BCORL1 DLG1 KDM4B SRCAP PCNT TNRC6B RREB1 PSMD12 TRMT1 SLC25A1 TPM3 TRAPPC4 MAGEL2 SATB1 SLC5A7 FBXW11 AGO2 SPG7 SNORD115-1 IQSEC2 DYNC1I2 MADD LRP12 HP_WEAK_CRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEAK_CRY SIM1 TPM3 SPECC1L COLQ PPP1R21 AGRN COQ9 EXOSC9 SLC18A3 CHRNE OPA1 FKTN MYH7 ACTA1 SYT2 FUZ MYO9A IGHMBP2 LAMA2 VPS13B SNRPN TRIP4 RYR1 VAMP1 LAMB2 MAGEL2 ASAH1 RAPSN TPM2 SNAP25 SLC25A1 CHAT CHRNA1 SLC5A7 COL13A1 GFPT1 ASPA LAMA3 NIPBL SELENON CRYAB HP_HOARSE_CRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HOARSE_CRY PAX8 LAMB3 SPECC1L ASAH1 PIGN MEG3 TSHB LAMA3 DLK1 LAMC2 RTL1 DUOX2 HP_DYSPHONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSPHONIA PANK2 SPEG SDHD NEFH GTF2I SIL1 THAP1 CIZ1 DCTN1 GTF2IRD1 SLC18A3 COL6A3 CLIP2 TUBB4A DGUOK FUZ MPLKIP ABHD11 MFN2 VHL CYP27A1 GNAS RARS1 SNAP25 AR CHAT FTL ELN EIF4H ADGRG1 HMBS SLC5A7 LAT2 STX1A SRPX2 SEC31A NEU1 AGRN STX16 TMEM127 SDHB KMT2B PRKRA MYO9A KIF1B VPS13A TARS1 RET BUD23 RNF113A TWNK METTL27 TBL2 MGME1 B4GALNT1 NOTCH3 LIMK1 CLDN3 TTC19 ALDH18A1 BAZ1B DNAJB2 SDHC FIG4 GNAL CRYAB HSPG2 GTF2E2 PI4KA RYR1 KCTD17 VAMP1 BIN1 DLST ERCC3 ZFYVE26 COL13A1 GTF2IRD2 ERCC2 EDA POLG NONO EPAS1 SDHA MAX SOD1 FH NCF1 COQ2 RFC2 FKBP6 CAPN15 TTN KCNK9 CLDN4 DNAJC30 VPS37D DNMT3A SLC25A11 MLXIPL SYT2 SDHAF2 ASAH1 INPP5K SLC25A1 TMEM270 TGM6 BCL7B GTF2H5 LMNB1 NF1 PRPH MDH2 HP_HIGH_PITCHED_VOICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_PITCHED_VOICE TRIM37 ADAMTSL2 RIN2 P4HB FAM111A MYH7 MORC2 IGF1R SELENON PPP1R15B AR SEC24D ITPA SMARCAL1 HSPG2 XRCC4 SRCAP PCNT TTN FMR1 GHR ORC4 ERCC4 SERPINH1 ZMPSTE24 RBBP8 STAT5B BSCL2 MED12 SEMA5A TRMT10A ARID1B BLM MDM2 CTNND2 POLD1 LMNA POC1A MTX2 HP_WEAK_VOICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEAK_VOICE MAPT GLUD2 TBP DCTN1 TRIM37 MATR3 TK2 NR4A2 ATP6AP2 SLC52A3 GARS1 PODXL SNCAIP HSPG2 SYNJ1 ATXN2 POLG ATXN8OS DNAJC6 FTL ADH1C TONSL GBA HP_PREMATURE_BIRTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_BIRTH QRSL1 ABCA3 SMPD4 COL1A1 PEX6 RNU4ATAC HDAC8 CYP11A1 GALK1 SATB1 RBPJ KCNJ1 CLCN7 FLVCR2 KRAS EOGT COL5A1 SLC12A1 PEX11B FIG4 LMOD3 STAT2 HYLS1 SLC27A4 RTL1 ALB HBB PEX1 SIX3 FGFR1 LRP5 HOXD13 SLC17A5 BSND ALG8 NR1H4 DHPS PEX26 DLK1 CRB2 ACTA1 PNPO ASCC1 GLI2 NDUFB11 STRADA THOC2 NLRP3 BRAF HRAS NUP107 COL3A1 MYH7 NEB PEX3 PEX10 DHCR7 PEX12 SMARCAL1 SFTPB ABCA12 BRD4 TPRKB KLHL41 TGIF1 PTH1R MAPK1 NIPBL MAGED2 FGF8 COL11A1 MAP2K2 KIF7 SF3B4 TMEM70 CLCNKB NDP ATP8B1 MUSK ARHGAP31 WDR73 WDR4 FDXR NDUFB3 COL1A2 ZIC2 RPL10 CDON SLC16A2 PEX16 ADAMTS2 DLL4 PEX5 GATB IGHMBP2 TPM3 MAP2K1 ZMPSTE24 SMC3 NUP133 PEX2 ABCB11 FOXH1 ZNF699 AIMP1 SLC26A3 PTCH1 MEG3 RALGAPA1 PEX13 YARS1 GATC SMC1A FLI1 MED12 ALG12 ESCO2 SHH RPS19 NOTCH1 FBN1 PEX14 NODAL TDGF1 SFTPC LAGE3 TSHR LMNA DOCK6 OSGEP SARS2 FLNB KLHL40 PEX19 FZD4 CRKL DLL1 BCR COL5A2 CLCNKA TP53RK DISP1 TRIP4 ABCB4 SERPINE1 GAS1 SUFU GBA RAD21 CNOT1 HP_BREECH_PRESENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BREECH_PRESENTATION TPM2 NEB KLHL41 COL1A2 COL1A1 SON MKS1 PTPN23 ASXL3 SHPK ACTA1 OPA1 DHCR7 MYPN PEX1 ORC1 KLHL40 KDM3B LMOD3 ERGIC1 KBTBD13 ZNF699 MYH3 TPM3 SLC26A2 CRTAP HP_MITRAL_VALVE_PROLAPSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MITRAL_VALVE_PROLAPSE FIBP TENT5A TPM2 KDELR2 COL1A1 FMR1 ENPP1 NF1 GTF2I B3GALT6 B3GAT3 SH3PXD2B FBN1 COL5A1 GTF2IRD1 LMNA RPL5 HCCS CLIP2 FLNA HCN4 ABHD11 PKD1 DZIP1 PCGF2 SLC6A6 BCOR RAF1 ELN COL1A2 SELENON VWF ZNF469 AEBP1 TNXB EIF4H LAT2 HRAS COL3A1 SACS VPS13B MBTPS2 ATP6V1E1 STX1A SMAD3 CHST3 ABCC6 SMAD4 NDUFB11 DSE MLXIPL BUD23 DNAJB11 TGFBR1 XYLT2 RYR1 METTL27 GANAB MAPK1 TBL2 CBS TGFB2 LIMK1 CLDN3 HNRNPH2 PTPN11 LTBP3 MMP14 MFAP5 PRDM5 BAZ1B TAB2 MYH7 PKD2 BICC1 FBN2 MYPN BRAF DCHS1 PLOD1 PLD1 GTF2IRD2 MED12 TGFBR2 SLC29A3 ALG9 COL2A1 EXTL3 POLG SKI XYLT1 FMN2 KRAS NCF1 RFC2 FKBP6 CLIC2 ANK1 CLDN4 DNAJC30 VPS37D BRF1 MAP3K7 COX7B LZTR1 TTN COL5A2 MMP2 TMEM270 TPM3 BCL7B HP_CONGESTIVE_HEART_FAILURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGESTIVE_HEART_FAILURE PPARG SDHD GDF1 SLC25A3 GTF2I HBB MYD88 ENG PRKAR1A GTF2IRD1 SCN5A LMNA GNA11 BCHE TNNI3 MT-CO2 VHL MT-TV ENPP1 LDB3 FOS MT-TK MYH7 SLC2A10 SELENON DES IDS MYH6 CAVIN1 SPTBN1 PTEN HFE GLA AGPAT2 HADHA MECP2 GLB1 HBA1 ABCC6 TMEM127 SDHB GPR35 PRDM16 SCN4A TTN TBX20 SLC19A2 HADHB RET COL1A1 RASA1 SCO1 FLNA EFEMP2 METTL27 DMD TBL2 ACVRL1 PSEN2 PRKAG2 FLNC NSMCE2 SDHC TF TUBB TCF4 MT-ND6 GATAD1 EPG5 MT-TL1 MT-ND5 PLN CDH23 PLOD1 COX16 DLST ALMS1 ELAC2 CACNA1S MT-TW DSP NDUFAF3 SLC22A5 MT-TQ ADCY5 MAX TAFAZZIN SLC25A26 IKBKG ACAD9 NCF1 RYR1 GATA4 RFC2 TRIM37 CLIC2 SEMA4D MT-TE VCP DNAJC30 SF3B1 CITED2 GTPBP3 DNMT3A GDF2 SGCD SCN1B EPHB4 HBA2 MT-TC TPI1 ACTC1 NKX2-5 DNAJC19 BCL7B TNNI3K TLL1 MYLK2 TNNT2 COG7 MT-CO1 BAG3 MDH2 JUP ADAMTSL2 MYL3 SNAP29 TMEM70 RAB3GAP2 PNPLA2 WRN CLIP2 KCNJ5 RBM20 ABHD11 SLC17A5 MT-TF TPM1 NPPA TMEM43 ELN IFIH1 NDUFB11 ACTN2 EIF4H IRF5 LAT2 PHYH STX1A BMP2 ATXN7 AFF4 CASR FBN1 PEX7 FGFR3 FBLN5 SMARCAL1 MED13L GATA6 SCO2 TET2 TRPM4 CAV3 AGGF1 EYA4 KIF1B CCR6 PSEN1 BUD23 SDHA FXN CEP19 STAT1 HNRNPA2B1 MYPN PSMB8 MT-TS1 LIMK1 CLDN3 BSCL2 HNRNPA1 BAZ1B MT-ND1 ATP6V1A MYSM1 HLA-DRB1 COL1A2 GNPTAB XYLT2 VPS33A HAMP CCN2 LRPPRC MST1 NDUFS2 PPA2 VCL GTF2IRD2 ATP5F1A CAV1 MT-CYB SMAD4 XYLT1 EPAS1 RPS19 FH HJV FKBP6 MTTP CLDN4 VPS37D NDUFB8 SLC25A11 FGD1 MLXIPL SURF1 NDUFAF1 GJA1 SDHAF2 MAPRE2 STRADA TMEM270 DTNA MT-TS2 TRIP4 GAA MT-CO3 CP NF1 HP_TETRALOGY_OF_FALLOT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TETRALOGY_OF_FALLOT NR2F2 TBX1 GTF2I ARHGAP31 SIX3 STRA6 HIBCH RBPJ EOGT GTF2IRD1 ALX3 FGFR1 JAG1 DDX59 RAB23 STIL GATA4 GLI2 MMP23B ESS2 FOXF1 NOTCH2 ZIC2 MYRF GATA5 SPEN SLX4 ALX1 ZEB2 RBM8A ZFPM2 RRAS2 NKX2-5 GATA6 TGIF1 DPF2 FLT4 NXN METTL27 TBL2 SEMA3E RFWD3 ARID1B PIGL GDF1 DGCR8 FGF8 ERCC4 NKX2-6 CHD7 SMARCB1 PIGN XRCC2 FIG4 SALL1 CDON RERE PRKCZ SLC35A2 SHH SALL4 FOXH1 VAC14 SPECC1L ROR2 PQBP1 RBM10 LUZP1 INTU NCF1 FANCC RFC2 NODAL SMARCC2 PUF60 DNAJC30 UBE2T TTC37 PAH DISP1 SRCAP RAD51 SMARCD1 CHUK UBE2A BCL7B GAS1 ARID1A MAD2L2 CACNA1C CRELD1 SEC24C SOX4 BICRA ARID2 COMT RPL5 JMJD1C COX7B BRCA2 CLIP2 FANCE ABHD11 NID1 DGCR2 ELN SMARCE1 FANCI EIF4H LAT2 STX1A KCNAB2 CITED2 RPL11 FANCA TMEM94 TMEM260 UBE4B SMARCA4 FANCL CHRM3 BUD23 DGCR6 CCDC22 HIRA DACT1 LIMK1 CLDN3 WASHC5 SKI SF3B4 BAZ1B SKIV2L FANCB WT1 HSPG2 DLL4 UFD1 RNU4ATAC EHMT1 CASZ1 PRDM16 PTCH1 GTF2IRD2 GP1BB DDX11 FANCF NOTCH1 MKKS FKBP6 ARVCF PLXND1 GJA5 TDGF1 CHD4 CLDN4 FOXC2 DOCK6 VPS37D FANCG MLXIPL DLL1 RREB1 TAB2 BRCA1 TMEM270 BRIP1 FANCD2 CDK8 GABRD PDPN CXCR4 FANCM PALB2 SOX11 SUFU BRAF RAD51C HP_ABNORMAL_MYOCARDIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MYOCARDIUM_MORPHOLOGY SARDH PPARG RNU4ATAC NUP107 AGK TNNI3 MT-ND6 MAP2K2 HADHA HCN4 LDB3 FOS ABHD5 LAMB3 MT-TK PLN CSRP3 TNNT2 DOLK DES ERCC8 FHOD3 RAF1 MYH7 LMNA HPS1 BRAF TPM3 AGPAT2 FKTN ANKRD11 FAS SPEN MT-TS2 MRPL44 MAP2K1 ABCC6 MT-ND1 PRDM16 AIP IFIH1 SAMHD1 POLG2 MT-ND4 RYR2 LIAS BCS1L ERCC4 TWNK TMEM70 MT-ND2 PHKG2 FIG4 KCNJ2 ACADS PRKCZ NDUFAF3 MYH6 GATAD1 SGCB SUCLG1 KBTBD13 PSEN1 PEX3 GMPPB VAC14 STAR MEG3 TNNC1 GPC3 ATPAF2 ARSB AHCY UQCRFS1 TPM1 TACO1 ERCC2 LAMC2 NCF1 NDUFA10 MRAP INSR ACAD9 PCCA MT-TE DSP NDUFV2 SGCD RRM2B ERAP1 MT-TW MYBPC3 DNAJC19 GNS NDUFS8 BCL7B MYLK2 SELENON BAG3 QRSL1 PKP2 VCL MYL3 NEB PPP1R21 SLC25A20 TK2 MT-ND5 RAB3GAP2 IL23R NEU1 GNE BRCA2 CASQ2 RBM20 MPLKIP FBXL4 FAH DMPK NPPA PET100 SHOC2 ELN ANO5 EIF4H NDUFA12 HRAS NDUFS2 NDUFS3 WFS1 NONO MYPN CAV3 IDUA ACAD8 TARS1 BUD23 HADH NDUFA13 MEFV CISD2 PPP1CB CLDN3 ACTC1 PMM2 SYNE2 ATP6V1A FANCB IL10 XYLT2 HSPG2 IDH2 LAMA2 TMEM126A SMC1A NDUFS4 PPA2 SLC25A4 SDHB PEX12 FLNC D2HGDH TCAP MT-TF FKRP XYLT1 TGFB3 SPTA1 CPT2 YARS2 SDHA OPA1 ADCY5 PRKAG2 DLD LIMS2 COX6B1 POMT2 CDH23 BRCA1 TMEM270 GAA PDPN ECHS1 RAD51C SLC25A3 ABCC8 GPC4 UBAC2 KAT6B COA8 SBDS KCNQ1OT1 C4A IDS NDUFS1 TOP3A SLX4 MT-TT ADORA2A ACTN2 GBA TAF1A TTN FTO RNF113A FASTKD2 METTL27 TLR4 FHL1 RBCK1 AARS2 GLA CHKB CAP2 TPI1 FLAD1 EPG5 DCAF8 NAGA MT-CO1 DPM3 GSN ERCC3 NDUFB11 ELAC2 LUZP1 B2M TAFAZZIN MMP1 PYGL RFC2 SUFU ALG1 TRIM37 KCNJ5 VCP IGF2 IKZF1 UBE2T USP8 NDUFAF4 ATP1A3 NDUFV1 RAD51 GBE1 LAMP2 ALG3 RPL3L TKFC BOLA3 XK SCARB2 PEX13 NDUFAF1 PDHA1 DSG2 HADHB TPM2 JUP KIF20A MEN1 RNASEH2C COX15 MT-TL1 HLA-B HCCS CLIP2 MT-ATP6 FANCE RMRP ABHD11 POLG SCN5A MCM10 SLC6A6 MMACHC COX10 RNASEH2A PIGT FOXRED1 FANCI MT-CO2 MT-TN NDUFAF6 PHYH STX1A BMP2 MRAS PEX7 LTBP4 SCO2 FANCL MYO18B NEXN WARS2 KCNJ11 NBAS PNPLA2 MGME1 NDUFB10 ABCC9 NDUFAF8 MT-CO3 ATAD3A ALMS1 GNPTAB MT-ND3 IL12A VPS33A NDUFS6 POMK PCCB TAPT1 SGSH GTF2IRD2 RNASEH1 HJV COL7A1 VPS37D NDUFB8 SURF1 SGCA LZTR1 RYR1 MMUT HBB DSC2 NDUFAF2 FANCD2 TRIP4 RMND1 TREX1 RIT1 SLC4A1 COQ2 NF1 GTF2I PPCS KCNJ8 KRAS TTR RTL1 MIPEP GPR101 MMP23B JPH2 CCR1 CLPB UCP2 DMD GPX4 TMPO CAVIN1 NDUFA2 HFE COG7 AGL COX7B ANKRD1 TBL2 CPT1A RFWD3 VHL PSEN2 ERBB3 GUSB ATP1A2 RERE ACADVL STAT4 POMT1 LAMA4 LIPT1 SLC22A5 SLC19A3 MLYCD DNAJC30 GTPBP3 NDUFB9 PEX2 PEX6 COA5 ADAR KLHL41 GTF2H5 PTPN11 NEK8 MRPL3 SERPINE1 PEX5 BRCC3 PHKA2 SDHAF1 TMEM43 UBR1 TTPA SOS1 SLC30A10 CDKN1C FANCA ACTA1 UBE4B KLF1 BBS2 EYA4 PYGM NDUFAF5 TSFM KANSL1 TGFB1 DNAJC21 BSCL2 NDUFS7 HNRNPA1 MYSM1 MICOS13 SPEG KCNQ1 HSD17B10 CRYAB GTF2E2 XRCC4 NDUFA1 USP9X GATC NFS1 NUBPL GATA5 FANCF SLC1A3 PEX16 MT-TQ GYG1 SLC40A1 MYOCD POMGNT1 SDHD ENPP1 MT-TS1 SPTB GTF2IRD1 MIB1 ATP5F1D COX14 C1QBP GATA4 MTO1 GYS1 COA6 KLRC4 SLC2A10 HGSNAT GLB1 EPB42 PEX26 TERT TXNRD2 TRNT1 MYOT NAGLU TFR2 VPS13A COQ4 SHMT2 PARS2 PDGFRA MLX MT-TH MTFMT NDUFA11 PEX10 XRCC2 ANK1 ITPA MRPS22 MC2R RNASEH2B ANKS6 IL12A-AS1 ADA2 FXN FANCC PEX14 NDUFA6 LAMA3 GJA5 TNNI3K NNT MAD2L2 PEX19 SRP54 NAXD NRAS SYNE1 KCNH1 PEX1 CLN3 NDUFA9 LAT2 KCNAB2 FHL2 TANGO2 ATP5F1E IL12B PGM1 MRPS14 HNRNPA2B1 LIMK1 ATP5MK SKI SLC19A2 PEX11B BAZ1B HMGCL NDUFA4 ERCC6 HAND2 HAMP LRPPRC MYOZ2 TMEM126B CENPE CASZ1 TIMMDC1 CAV1 CACNA1A FKBP6 CLDN4 MYL2 FANCG MLXIPL MT-TV TRDN DTNA NDUFB3 BRIP1 GABRD DLK1 FANCM EMD PALB2 TNFRSF1A LRP12 HP_HYPERTROPHIC_CARDIOMYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTROPHIC_CARDIOMYOPATHY NDUFS4 SARDH PPARG COQ2 SLC25A3 NF1 ABCC8 SURF1 GTF2I MT-TS1 KCNJ8 KRAS GTF2IRD1 AGK MT-ND6 MAP2K2 RTL1 COX14 COA8 MIPEP NDUFS7 FOS GATA4 MTO1 MT-TK GPR101 COA6 RAF1 MYH7 SLC2A10 UCP2 HGSNAT FHOD3 CAVIN1 NDUFA2 BRAF MT-ND3 NDUFS1 AGPAT2 COG7 MT-TS2 MRPL44 SLX4 MAP2K1 GLB1 INSR ATAD3A NDUFB11 PTPN11 MT-ND1 DES AIP IFIH1 TMEM43 SAMHD1 NAGLU COQ4 MT-ND4 LIAS FTO SHMT2 FASTKD2 METTL27 FLNC LMNA TBL2 HADHA BCS1L CPT1A RFWD3 MLX FHL1 MT-TH MTFMT ERCC4 AARS2 NDUFA11 TMEM70 GLA MT-ND2 HLA-B XRCC2 CRYAB TPI1 NDUFAF3 MT-TL1 NAGA SUCLG1 MT-CO1 MRPS22 ACADVL MC2R MT-TW RNASEH2B STAR ELAC2 MEG3 ATPAF2 UQCRFS1 TACO1 ANKS6 LIPT1 SLC22A5 SLC19A3 TNNT2 FOXRED1 TAFAZZIN MYH6 SYNE2 ACAD9 NCF1 PYGL NDUFA10 MRAP FANCC RFC2 SUFU NDUFA6 MT-TE NDUFB10 DNAJC30 UBE2T NDUFAF4 NDUFV2 NDUFV1 NDUFB9 RAD51 NDUFS8 MYBPC3 LAMP2 GNS BOLA3 COA5 ADAR BCL7B NDUFAF1 PDHA1 NEK8 MRPL3 NNT MYLK2 MAD2L2 QRSL1 HSD17B10 NDUFS2 KIF20A MYL3 PPP1R21 MEN1 RNASEH2C MT-ND5 SHOC2 HCCS TTN BRCA2 CLIP2 FANCE ABHD11 FBXL4 NRAS FAH SDHAF1 NDUFAF2 MT-ATP6 RNASEH2A PET100 ELN TTPA SYNE1 TREX1 CLN3 SLC25A4 FANCI EIF4H MT-CO2 TXNRD2 NDUFA9 NDUFA12 MT-TN NDUFAF6 LAT2 HRAS STX1A NDUFS3 MYPN SOS1 COX15 SLC30A10 MRAS FANCA TANGO2 HADH TPM1 SCO2 KLF1 CAV3 ATP5F1E FANCL IL12B PYGM NDUFAF5 GTPBP3 BUD23 TSFM MRPS14 FXN NDUFA13 SDHA KCNJ11 TGFB1 BSCL2 LIMK1 PPP1CB CLDN3 ATP5MK ACTC1 PMM2 BAZ1B ATP6V1A FANCB ABCC9 NDUFA4 TNNI3 NDUFAF8 MT-CO3 MICOS13 GNPTAB VPS33A NDUFS6 LRPPRC MYOZ2 TMEM126B TMEM126A NDUFA1 SMC1A PPA2 SDHB TIMMDC1 VCL TAPT1 SGSH GTF2IRD2 NFS1 CAV1 TKFC MT-TF NUBPL TNNC1 FANCF YARS2 MT-TQ BAG3 FKBP6 CLDN4 OPA1 MYL2 VPS37D PRKAG2 DLD NDUFB8 FANCG MLXIPL MT-TV COX7B LZTR1 COX6B1 BRCA1 TMEM270 NDUFB3 BRIP1 FANCD2 GAA ECHS1 DLK1 FANCM EMD PALB2 RIT1 SDHD RAD51C HP_CARDIOMEGALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIOMEGALY JUP HSD17B10 GDF1 TGFBR2 HBB GTF2I ENPP1 B3GAT3 RNASEH2C KCNJ8 COX5A PRKAR1A GTF2IRD1 GAA NEU1 ALPK3 STAT2 CLIP2 FBN1 TTR FOXE3 MYH11 COQ2 ABHD11 C1QBP FUCA1 SLC17A5 CPT2 RNASEH2A ELN TREX1 KCNQ1OT1 IFIH1 HEXB ACTN2 EIF4H TGFB2 HFE ZIC3 LAT2 PHYH TGFB3 STX1A BMP2 CHST3 ABCC9 NONO CDKN1C PEX7 WDR37 ACTA2 MED13L SAMHD1 NAGLU TGFBR1 BUD23 PLAGL1 SDHA METTL27 TBL2 PSMB8 HEY2 LIMK1 PRKAG2 CLDN3 PDSS2 DYSF MYLK BAZ1B NHLRC2 ABCC6 SMAD2 FIG4 NKX2-6 PRKG1 GNPTAB KCNQ1 GATB LOX ACADVL CPT1A MAT2A PIGS RNASEH2B VAC14 NDUFC2 TAPT1 GTF2IRD2 SLC29A3 MOGS SLC22A5 LBR SMAD3 NCF1 RFC2 ACADM HYMAI TRIM37 FKBP6 ASXL1 PLXND1 CLIC2 MTTP PAM16 MFAP5 CLDN4 GBA DNAJC30 IGF2 VPS37D MLXIPL NAGA MT-CYB NEK9 COX6B1 TET3 MYBPC3 LAMP2 DSP TMEM270 ADAR BCL7B CACNA1C SMAD4 HP_ABNORMAL_PULMONARY_VALVE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PULMONARY_VALVE_MORPHOLOGY TBX1 SEC24C GDF1 A2ML1 ARHGAP31 SHH PTPN11 PRKAR1A TMEM70 SIX3 NRAS RIT1 RBPJ COMT POLR3A EOGT KIF7 DLL4 JMJD1C FGFR1 KRAS BRAF UFD1 ATRX MRAS RAF1 STIL IDS FOXF1 LZTR1 GLI2 DAXX ZNF699 DISP1 ROR2 FGF8 TGFBR2 GP1BB ZIC2 KAT5 NOTCH1 DYRK1A CBL TCIRG1 ARVCF ZEB2 RRAS RASA2 DOCK6 B3GLCT TNFSF11 SOS2 MED13L POLA1 SALL1 RRAS2 RNF135 FLT4 RREB1 DDX3X SNX10 NXN HIRA SOS1 PIGL CLCN7 DACT1 HP_PULMONIC_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONIC_STENOSIS WNT4 SARDH ACAD8 NF1 GTF2I ARHGAP31 GDF1 STRA6 BMP2 KRAS FBLN5 GTF2IRD1 SHOC2 GATA6 SEMA3E DCHS1 TTC37 CLIP2 MAP2K2 PGAP1 ABHD11 NRAS RAB23 KANSL1 CCDC32 KIF20A TRAF7 RAF1 KDM6A ELN FBXW11 CYP24A1 IGFBP7 EIF4H NOTCH2 BCOR ZIC3 BRAF LAT2 HRAS NEK9 STX1A SMC3 GATA4 SOS1 MAP2K1 SMAD3 CREBBP MRAS ZEB2 PTPN11 ZNF469 SCO2 RAD21 BPTF ADK MLXIPL MGP RNF135 FLT4 FBN1 B4GALT7 BUD23 CCDC22 AGO2 KAT6A ADAMTS10 METTL27 TBL2 GPC4 NOTCH1 RPL27 LIMK1 EP300 PPP1CB CLDN3 WASHC5 CHD7 PRDM5 BAZ1B ALDH18A1 OTUD5 CDC42 TAB2 TBX2 NKX2-6 SOS2 POLR3A CUL3 TBCK LTBP2 ENPP1 NDUFS2 ZNF699 GPC3 GTF2IRD2 SLC29A3 ANKS6 NDUFAF3 NCF1 WAC RFC2 FKBP6 PLXND1 CLDN4 DNAJC30 CHST3 B3GLCT VPS37D NDUFB8 NRXN1 SURF1 LZTR1 DSG1 FKTN TMEM270 PSMD12 BCL7B SGO1 MAP3K7 NEK8 G6PC3 FAT4 RIT1 HP_PATENT_DUCTUS_ARTERIOSUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATENT_DUCTUS_ARTERIOSUS GTF2I KCNJ8 HPGD MYCN AMMECR1 RAB23 KANSL1 MMP23B MCTP2 C2CD3 ARSL UBR7 DHCR24 TGFB2 MYRF ARF1 SPEN MAP2K1 SMAD3 ZEB2 WDR37 MRPS16 PLAGL1 GATA4 CSGALNACT1 TBL2 GPC4 RFWD3 HEY2 EP300 ERCC4 MYLK NOTCH3 MKS1 RBP4 IGBP1 RERE PRKCZ ACTB TFAP2B TMTC3 SUCLG1 PORCN NKX2-5 SIK3 NFIX RSPRY1 FOXF1 STXBP1 LARS2 PPP1CB CALM3 PIGN ZNF699 CTCF GPC3 TRIP11 DVL3 EXT2 GJA5 COL18A1 NCF1 MEGF8 DPM1 HYMAI FLNA SMARCC2 DNAJC30 SALL1 NEDD4L FKBP14 CHD7 UBE2A BCL7B PTEN TALDO1 CACNA1C SMAD4 CRELD1 SEC24C ARID2 SPECC1L SOX2 POLR1D COMT JMJD1C BRCA2 YY1AP1 MYH11 DYRK1A NSD1 TRAF7 ELN ARID1B NADSYN1 ASCC1 NOTCH2 EIF4H LMX1B PACS1 MYH7 GLI3 POLR1A ABCC9 NONO FANCA TMEM94 AFF4 DHCR7 ACTA2 MED13L SETD2 TBX5 UBE4B TP63 BPTF POLR1B GATA6 FBN1 BUD23 TSFM ARFGEF2 KAT6A HIRA STAG2 DACT1 CLDN3 RPS26 CREBBP FGF10 TBX1 ARL6IP6 NPHP3 FANCB NKX2-6 WT1 TBX4 HSPG2 ZMPSTE24 TGFBR2 ADAMTS10 PUF60 CEP120 ALG8 USP9X SLC29A3 NR2F2 ADAT3 FANCF POLR1C WAC TBC1D24 PHGDH USP18 ARVCF FOXC2 B3GLCT MYOCD IGF2 ERMARD RREB1 LZTR1 LMNA BRCA1 TMEM270 PRDM6 G6PC3 PDPN KYNU SOX11 CHRM3 RAD51C GDF1 ZMIZ1 STRA6 GTF2IRD1 FOXC1 PEX1 SLC25A24 FOXE3 ESCO2 BCOR COA6 WDPCP ZIC3 TGFB3 SMC3 TCOF1 SLX4 TKT PTPN11 SNX14 RAC1 APC2 FGFR3 COQ4 MGAT2 MASP1 DPF2 ACSL4 FTO EED METTL27 TGFBR1 SEMA3E SSR4 PSMD12 SMARCB1 ZNF148 CDC42 XRCC2 TBX2 SHANK3 SON TMCO1 LOX PLCB3 UMPS AMER1 FGFR2 ECE1 ANKS6 LUZP1 SMARCA2 ALB KAT8 COG6 FANCC RFC2 BRAF MFAP5 ANK1 UBE2T TTC37 RAD51 SMARCD1 ALG12 MAP1B ARID1A MAD2L2 SOX4 NODAL RPL5 CLIP2 THOC6 FANCE KCNE5 ABHD11 EOGT PCGF2 WDR35 PIGT DYNC2LI1 KRAS KCNH1 SMARCE1 FANCI GJA1 NCAPG2 LAT2 STX1A KCNAB2 GJA8 CCDC22 RPL11 SAMD9 FANCD2 SNRPB DNMT3A SMARCA4 AGGF1 FANCL AGO2 LIMK1 SKI SIX6 TRRAP SF3B4 BAZ1B SKIV2L SMAD2 PRKG1 VPS33A UFD1 MAF CASZ1 SNRPN FBN2 ARX PRDM16 KCNN3 MAT2A SALL4 GTF2IRD2 GP1BB PEX19 BMPR1A CD96 MKKS FKBP6 PLXND1 CLDN4 VPS37D FANCG MLXIPL CTU2 PCNT DTNA BRIP1 TRIP4 MAP3K7 GABRD FANCM PALB2 RIT1 KAT6B HP_DILATED_CARDIOMYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DILATED_CARDIOMYOPATHY PPCS MT-TS1 HBB NUP107 TNNI3 KAT6B MT-ND6 NDUFB11 ATP5F1D ABCC9 LDB3 LAMB3 PLN MMP23B CSRP3 TNNT2 SLC2A10 DOLK DES DMD TMPO RAF1 MYH7 LAMA4 LMNA MT-ND3 TOP3A TPM3 FKTN ANKRD11 NEXN HADHA SPEN MT-TS2 FKRP GLB1 TERT TXNRD2 ACTN2 MT-ND1 DNAJC19 PRDM16 TMEM43 TAF1A VCL ANKRD1 SDHD POLG2 TTN VPS13A MT-ND4 RYR2 RBM20 SCN5A POLG MGME1 PSEN2 MT-TH RBCK1 TWNK MT-ND2 CHKB ERBB3 KCNJ2 CAP2 RERE PRKCZ MYBPC3 MYH6 GATAD1 EPG5 MT-CO1 DPM3 PSEN1 MT-TW ALMS1 TNNC1 DSG2 TPM1 LAMC2 NDUFAF3 LUZP1 ADA2 MLYCD ADCY5 TAFAZZIN MMP1 FHL1 SYNE2 ACAD9 KCNJ5 DSP LAMA3 SGCD RRM2B CRYAB LAMP2 SLC25A4 RPL3L TKFC BOLA3 XK TNNI3K HADHB SELENON BAG3 BRCC3 SDHA JUP ACAD8 SGCB MT-TL1 MT-ND5 ACTC1 HCCS CASQ2 TCAP DMPK MYPN SLC6A6 MMACHC UBR1 MT-ATP6 ACADVL SYNE1 MT-CO2 KCNAB2 FHL2 HADH HJV MT-TK ACTA1 SCO2 UBE4B BBS2 EYA4 PGM1 TSFM MEFV SKI HMGCL MT-CO3 SPEG HSPG2 HAND2 XRCC4 CASZ1 NDUFS2 TPM2 CPT2 HAMP MT-TF GATA5 POMT2 MT-TQ COL7A1 NDUFB8 SURF1 MT-TV COX7B LIMS2 RYR1 TRDN GABRD PDPN JPH2 LRP12 HP_ABNORMAL_AORTIC_VALVE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_AORTIC_VALVE_MORPHOLOGY NXN TAF2 GTF2I ARHGAP31 FBN1 CCNQ GTF2IRD1 LMNA SLC25A24 FOXE3 KANSL1 CHRNG MCTP2 FOXF1 PPP2R5D SH2B1 TNXB MYH7 TGFB2 SPTBN1 TGFB3 SMC3 SLX4 SMAD3 CHST3 ZEB2 ROBO4 GBA RAC1 HGD ACSL4 GATA4 NOTCH1 FLNA METTL27 TBL2 SEMA3E RFWD3 MLX HEY2 EP300 ERCC4 MYLK GLA HLA-B XRCC2 NOTCH3 ACTB LOX ZMPSTE24 SMAD6 ELN YY1AP1 GJA5 IFT122 NCF1 FANCC RFC2 FDFT1 AMMECR1 MFAP5 PUF60 DNAJC30 UBE2T TTC37 HNRNPK RAD51 OGT CHD7 BCL7B SGO1 MAD2L2 SMAD4 CRELD1 SEC24C TGFBR2 RAI1 GNPTAB B3GAT3 TMEM70 COMT JMJD1C BRCA2 CLIP2 SNIP1 KIF3B MYH11 FANCE BCOR KCNE5 ABHD11 NKX2-5 NADSYN1 IFIH1 FANCI EIF4H PACS1 LAT2 STX1A GJA8 CREBBP ABCC9 FANCA B3GALT6 ACTA2 MYH3 BBS2 MAP2K2 MLXIPL FANCL IL12B TGFBR1 GATA6 BUD23 GATA5 EDNRA AGO2 HIRA LIMK1 CLDN3 MMP14 TBX1 BAZ1B SKIV2L SMAD2 FANCB WT1 PRKG1 UFD1 FBN2 MAT2A MMP21 ZNF462 GTF2IRD2 GP1BB SKI RPL26 NR2F2 FANCF WAC FKBP6 ARVCF CAPN15 CLDN4 VPS37D SRY FANCG MYOCD CBL RREB1 NAA10 TAB2 RPS6KA3 BRCA1 TMEM270 BRIP1 FANCD2 MAP3K7 MMP2 FANCM PALB2 BRAF RAD51C HP_COR_PULMONALE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COR_PULMONALE MAP3K20 TPM2 BTK HACD1 ACTA1 TGFB1 FCGR2A SELENON TPM3 SREBF1 CFTR FLNA MYL2 ITGA7 HP_TACHYCARDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TACHYCARDIA JUP ABCA3 CPOX GDF1 HNF4A ABCC8 SLC25A20 KCNJ2 BMP2 RYR1 SDHD KCNJ18 DSP CASQ2 KCNJ5 NDUFB11 CNBP SEMA3A KIT ABCC9 DMPK SCN5A FBP1 HNF1A TPM1 NPPA TMEM43 KCNQ1 VHL ELP1 ACADVL JPH2 MAX CACNB2 CUBN UCP2 LMNA SCN10A MYH6 SDHB HMBS CSF2RB KCNJ8 RYR2 DST NAA10 GNAI2 BTNL2 HCN4 TRPM4 ACTN2 TANGO2 MED13L SFTPB GATA6 FMO3 SCN9A PPOX DNMT3A NKX2-5 RANGRF TTN CAVIN1 PYGM TBX20 SLC19A2 PGM1 CACNA1S RHCE TLL1 SCNN1A KCNJ11 CTNNA3 SCN3B RHD ASXL1 KYNU RHAG TECRL NKX2-6 KCND3 CACNA1C CALM1 CACNA2D1 FLAD1 VPS33A MYOZ2 TMEM127 SCN2B SLC12A3 TRDN PKP2 RET ZNF699 CPT2 CALM3 ECE1 SDHC GPD1L CSRP3 AKAP9 CDH2 CALM2 HLA-DRB1 GATA4 GYG1 PLXND1 AMN SFTPC SLMAP TSHR CITED2 MYL2 SRY TET2 MT-CYB HFE KCNE3 ACTC1 SRSF2 CSF2RA DSG2 TNNI3K SCN1B KCNE5 KIF1B HP_AORTIC_VALVE_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AORTIC_VALVE_STENOSIS CRELD1 ADAMTSL2 NPHP3 NR2F2 GLB1 TAB2 ARHGAP31 SMAD4 GBA ACTB LMNA EBP NOTCH1 SLC2A10 SNIP1 SCN1B EHMT1 DYRK1A LTBP2 AMER1 FOXF1 ADAMTS10 ZMPSTE24 IDUA SMAD6 VWF FLI1 CYP24A1 NOTCH2 IFIH1 ANKS6 GATA5 BCOR NKX2-5 CREBBP KRAS GJA1 GNPTG CLIC2 ZEB2 CHST3 ROBO4 DPH1 FBN1 CBL GATA6 B4GALT7 CCDC22 WASHC5 GATA4 DDX58 WT1 HAAO NEK8 EP300 FGFR1 HP_ABNORMAL_HEART_VALVE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HEART_VALVE_MORPHOLOGY A2ML1 COL1A1 FMR1 NF1 TAF2 GTF2I B3GALT6 SIX3 KCNJ8 SH3PXD2B KRAS FBN1 LMNA FGFR1 MYCN HCN4 KANSL1 MMP23B RAF1 MCTP2 COL1A2 ZNF469 PPP2R5D SH2B1 TNXB MYH6 MYH7 ZIC2 TGFB2 SPTBN1 KAT5 MYRF ARF1 CBL SPEN GALNS SMAD3 ABCC6 ZEB2 SOS2 ELN HGD TBX20 DNAJB11 DDX3X GATA4 NXN NOTCH1 TBL2 SOS1 RFWD3 HEY2 EP300 ERCC4 MAP2K2 LTBP3 MYLK ALDH18A1 HLA-B NRAS GUSB CTBP1 NOTCH3 RERE PRKCZ ACTB TMTC3 BRAF SHH FOXF1 ZNF699 ROR2 PLD1 ARSB COL2A1 YY1AP1 GJA5 FMN2 LOX NCF1 FLNA FDFT1 CLIC2 PUF60 COL3A1 GBA DNAJC30 HNRNPK CHST14 SALL1 NEDD4L DISP1 RRAS2 AMMECR1 AEBP1 COL5A2 MMP2 TPM3 FGF8 CHD7 BCL7B SGO1 SMAD4 CRELD1 CCNQ SPEG SEC24C TPM2 PTPN11 B3GAT3 TMEM70 COMT COL5A1 JMJD1C BRCA2 MYH11 DZIP1 CPLX1 NADSYN1 VWF GLI1 EIF4H PACS1 HRAS SACS VPS13B NKX2-5 ABCC9 FANCA RRAS ACTA2 MED13L GATA6 UBE4B MYH3 BBS2 IDUA STIL BUD23 CCDC22 EDNRA ARFGEF2 TLL1 RYR1 HIRA GLI2 DACT1 CLDN3 HNRNPH2 CREBBP TBX1 FANCB NKX2-6 WT1 XYLT2 FBN2 HSPG2 DLL4 SMAD6 TAB2 EVC2 MAP2K1 SMPD1 MMP21 ZNF462 SLC29A3 ALG9 EXTL3 SKI GATA5 RPL26 NR2F2 XYLT1 FANCF WAC ARVCF LETM1 CAPN15 SRY MAP3K7 MYOCD COX7B TTN ERMARD RREB1 NAA10 RPS6KA3 WASHC5 BRCA1 TMEM270 PDPN JPH2 RAD51C NSD2 FIBP TENT5A GDF1 ENPP1 PRKAR1A ARHGAP31 RIT1 RBPJ EOGT FBLN5 GTF2IRD1 KIF7 DYNC2LI1 SLC25A24 FOXE3 BCOR CHRNG SELENON IDS ZIC3 TGFB3 SMC3 SLX4 CHST3 NELFA GLB1 NDUFB11 DNASE1L3 TNFSF11 ROBO4 RAC1 RNF135 ACSL4 SNX10 METTL27 GANAB MAPK1 CBS SEMA3E MLX PIGL CLCN7 MFAP5 GLA XRCC2 SLC34A2 MYPN ATRX DCHS1 PLOD1 ZMPSTE24 LUZP1 DSE NONO YY1 IFT122 FANCC RFC2 ANK1 UBE2T TTC37 B3GLCT CITED2 POLA1 RAD51 ACTC1 OGT MAP1B PIGG MAD2L2 KDELR2 TGFBR2 RAI1 GNPTAB RPL5 HCCS CLIP2 EVC SNIP1 KIF3B FANCE KCNE5 ABHD11 PKD1 PCGF2 SLC6A6 DAXX IFIH1 FANCI GJA1 LAT2 MBTPS2 ATP6V1E1 STX1A KCNAB2 GJA8 TMEM260 AGGF1 MLXIPL FANCL IL12B TGFBR1 FLT4 AGO2 LIMK1 MMP14 MTX2 PRDM5 BAZ1B SKIV2L SMAD2 POLR3A PRKG1 PKD2 BICC1 UFD1 MRAS CASZ1 PRDM16 BIN1 LZTR1 MAT2A GTF2IRD2 MED12 GP1BB POLG DYRK1A TCIRG1 FKBP6 PLXND1 CLDN4 RASA2 DOCK6 VPS37D BRF1 FANCG BRIP1 FANCD2 GABRD FANCM PALB2 HP_PATENT_FORAMEN_OVALE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATENT_FORAMEN_OVALE NKX2-1 LMNB1 BICRA RAI1 NF1 RERE GNPTAB B3GAT3 IGF1R COL11A1 FANCI TBX20 GATA6 PACS1 VPS33A GNB5 AMMECR1 SUCLG1 PKDCC SCUBE3 SNRPN RIPK4 STAMBP RSPRY1 WDR35 PPP1CB PIGN ACADVL ZNF699 FBXW11 FOXF1 PLD1 LTBP4 ASCC1 DVL3 SH3PXD2B PPP2R5D UBR7 ALG12 MED13L KDM1A NONO NCAPG2 YY1 TKT HSPA9 PHGDH CHST3 DSE TMEM94 AFF4 WDR37 RAC1 SDHD TSFM AGO2 FLCN RPL3L SETD1A CSGALNACT1 UBE2A STAT1 CDK8 TRIP4 MAP3K7 NOTCH1 STAG2 SMG8 TASP1 MRPL3 CACNA1D EP300 DDX6 TGFB3 CREBBP RELN TALDO1 TRRAP KRAS MTX2 CACNA1C HP_AORTIC_REGURGITATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AORTIC_REGURGITATION CCNQ C12orf57 TENT5A KDELR2 TGFBR2 PDSS1 GNPTAB BUB3 BUB1B UBAC2 BUB1 IL23R SLC2A10 TTC37 YY1AP1 FBN1 FOXE3 MYH11 DYRK1A HCN4 PCGF2 MEFV COA6 CCR1 SHOC2 KLRC4 IDUA COL1A2 C4A ALDH18A1 TGFB2 SPTBN1 SLC35A1 TGFB3 MBTPS2 ARF1 ATP6V1E1 FAS NKX2-5 MAN2B1 SON GNPTG HLA-B ACTA2 TGFBR1 GATA5 ARFGEF2 NOTCH1 FLNA MAPK1 TLR4 ELN HEY2 MYLK SKIV2L SMAD2 NKX2-6 IL10 PRKG1 IL12A TMTC3 EHMT1 LOX CEP57 MAT2A ZMPSTE24 SMAD6 STAT4 IL12A-AS1 LMNA D2HGDH SMAD3 PLXND1 MFAP5 PUF60 CHST3 TRIP13 NEDD4L CRKL ERAP1 BCR ERMARD TAB2 MAP1B SMAD4 HP_TRUNCUS_ARTERIOSUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRUNCUS_ARTERIOSUS NKX2-5 TBX1 SEC24C NKX2-6 GJA8 STRA6 ARVCF COMT PLXND1 PUF60 DLL4 JMJD1C TMEM260 UFD1 CRKL BCR GATA6 RREB1 MAPK1 HIRA NEK8 GP1BB PSMD12 GJA5 HP_BRADYCARDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRADYCARDIA SCN5A ABCA3 PAX8 SCN4B SLC25A20 IYD PROP1 CALM2 GNB5 SLC5A5 CACNA2D1 MYO1H CALM3 HCN4 TSHR LHX3 DUOX2 LAMB3 DUOXA2 NDUFA8 NPPA PPA2 HESX1 SCN10A GFM2 ANK2 CALM1 KCNJ2 KCNQ1 UQCRFS1 CACNA1D HEPHL1 LAMC2 LIPT1 KCNE1 TSPYL1 KCNH2 LMNA MYL4 GLUL DST DES CACNA1C AKAP9 CAV3 BRAT1 CASQ2 LHX4 USP18 ASXL1 COQ9 KCNJ5 SFTPC TG SNTA1 NOS1AP PRKAG2 GNB2 SFTPB KCNE2 LAMA3 TLL1 TSHB SCN9A TPO CAVIN1 POU1F1 COQ4 BVES TBX5 SCO1 EFEMP2 HTRA2 TWNK SGO1 TNNI3K TRDN TRPM4 TMEM43 HP_VENTRICULAR_FIBRILLATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULAR_FIBRILLATION RYR2 GABRA3 MYL3 ALG10B CLCNKB KCND3 CACNA1C SCN1B CACNA2D1 NDUFB11 HCN4 SEMA3A SCN2B KCNJ18 GPD1L PKP2 KCNE3 SCN5A ACADVL CALM1 CACNB2 KCNJ2 KCNQ1 DSP KCNE1 SCN10A AKAP9 TNNC1 KCNJ8 KCNH2 CACNA1S GYG1 TRPM4 SLMAP TANGO2 MYL2 SNTA1 RANGRF MYBPC3 SCNN1A KCNE2 DPP6 ABCC9 SLC12A3 SCN3B CALM2 KCNE5 HP_TORSADE_DE_POINTES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TORSADE_DE_POINTES RYR2 SCN5A NAA10 KCNE1 CACNA1C CALM1 ALG10B KCNH2 AKAP9 SCN4B KCNQ1 KCNJ2 CALM2 KCNJ5 TANGO2 SNTA1 NOS1AP KCNE2 CALM3 TBX5 CAV3 SCN10A ANK2 TRDN HP_RIGHT_VENTRICULAR_HYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIGHT_VENTRICULAR_HYPERTROPHY NPHP3 GDF1 GTPBP3 TTN STAMBP LAMB2 MYH7 VPS33B COLQ NKX2-6 SFTPB PIGN SGCG VIPAS39 PLXND1 NONO FOXF1 NOTCH1 SELENON MED13L BMPR2 DYSF HP_TRANSPOSITION_OF_THE_GREAT_ARTERIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRANSPOSITION_OF_THE_GREAT_ARTERIES SPEF2 NKX2-5 TBX1 GDF1 DNAI2 CCDC39 NKX2-6 CFAP221 CFAP53 WT1 DNAH1 BMP2 NODAL ODAD2 RSPH4A DNAAF6 GATA6 ZIC3 DNAAF2 FANCB ODAD3 RAB23 DNAH9 RSPH9 GATA4 MMP21 MCIDAS MEGF8 DNAH11 DNAAF3 GPC3 CCDC40 CCDC103 ZNF462 ZMPSTE24 DNAAF4 QRICH1 TTC12 GJA5 MED13L DNAAF1 GAS8 DNAJB13 GJA8 PHGDH CFAP300 PLXND1 RSPH1 DNAAF5 LMNA CCNO DRC1 CCDC65 FOXJ1 PIGL OFD1 SPAG1 CFC1 ZMYND10 FKTN DNAI1 NME8 NEK10 ODAD1 DNAH5 ODAD4 RPGR GPC4 RSPH3 DNAAF11 CFAP298 LRRC56 HYDIN DNAL1 STK36 GAS2L2 HP_ASYMMETRIC_SEPTAL_HYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASYMMETRIC_SEPTAL_HYPERTROPHY NAGLU MYH6 SGSH MYL2 PRKAG2 HGSNAT FHOD3 MYLK2 GNS MYOZ2 MYH7 CAV3 HP_ABNORMAL_CARDIAC_SEPTUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CARDIAC_SEPTUM_MORPHOLOGY WNT4 KIAA0586 SATB1 PIGA MGP BUB1B NUP107 KMT2D FANCB MIR17HG RAB23 KANSL1 RERE SMAD4 PPP2R5D ARSL STRADA KAT5 BRAF NFE2L2 MYRF NAA10 GATA1 ANKRD11 SPEN PEX3 MAP2K1 SMAD3 XYLT2 ZEB2 RBM8A CDK13 PEX12 EXT2 FLNB ASXL2 KCNA1 CSGALNACT1 NXN ADAMTS10 RPS27 ERCC4 MAP2K2 CHST14 PIGN FIG4 COL11A1 CTBP1 MKS1 PRKCZ CDKL5 OTUD6B SUCLG1 CCDC174 SHH NKX2-5 SIK3 ARCN1 RSPRY1 LARS2 CALM3 VAC14 ZNF699 NDUFC2 HNRNPU CTCF ROR2 EFTUD2 MEG3 GPC3 PLD1 UQCRFS1 TACO1 ERCC2 PQBP1 SIK1 RPS29 CACNA1D RPS10 ZDHHC9 NCF1 HYMAI INSR ATRX KIF15 HNRNPK DPH1 PEX19 MYBPC3 SETD1A SMARCA2 UBE2A FBN1 BCL7B PTEN RPS24 GATA6 CACNA1C DMXL2 BICRA ARID2 ALKBH8 PPP1R21 B3GAT3 BUB1 COMT BRCA2 YY1AP1 PGAP1 MPLKIP TCTN3 CDC45 CDK10 SRCAP NSD1 PET100 SHOC2 ELN ARID1B GLI1 EIF4H TTC7A NDUFA12 PACS1 HRAS NDUFS2 NDUFS3 GATA4 PACS2 NONO NEK1 JAG1 TMEM94 AFF4 FGFR1 DLK1 MED13L TBX5 FLNA BRD4 TARS1 BUD23 KAT6A NDUFA13 HIRA STAG2 GLI2 DACT1 CLDN3 HNRNPH2 ATN1 RPS26 TBX1 NPHP3 ATP6V1A IGF1R TBX4 HSPG2 EHMT1 SMG9 KAT6B ZMPSTE24 KDM5B AUTS2 PIGO DISP1 SETD5 ADAT3 CANT1 RPS17 CCND2 PHGDH FGF13 SOX2 CITED2 VPS13B NEK9 CRELD1 TAB2 CEP57 LMNA BRCA1 TMEM270 WT1 SLC29A3 G6PC3 PDPN ECHS1 RAF1 NR2F2 RAD51C UBR1 RPS28 RPL10 GPC4 BUB3 STRA6 BMP2 MEOX1 RPL18 FOXC1 PEX1 DYNC2LI1 SLC25A24 ESCO2 RTL1 FADD CCDC32 BCOR ESS2 PEX26 PIGQ TCIRG1 NFIX NOTCH2 KDM1A PPP2CA ZIC3 GLA GLI3 FTCD ZIC2 SMC3 RARB SLX4 ABL1 ATP6V0A2 TKT CHST3 NELFA PRKACA TP63 RRAS2 SLC19A2 MGAT2 MASP1 PIEZO1 FTO RNF113A METTL27 MAPK1 SIX3 PEX16 PIGL CKAP2L RELN PSMD12 CWC27 CUL3 WDPCP UBE3B PEX5 SON LTBP2 COL1A1 ERCC3 NDUFB11 SPECC1L SH3PXD2B LUZP1 TGDS THPO RFC2 ACVR2B ANK1 UBE2T TTC37 B3GLCT NKX2-1 CRKL ALG9 RAD51 TET3 RPL3L ALG12 SNRPB PDHA1 DDX6 SLC25A22 PIGG TGFB3 ARID1A PALB2 PIK3R2 VPS33B PRKACB NODAL RPL5 HCCS COX7B CLIP2 THOC6 EVC SCN2A FANCE RMRP ABHD11 SCUBE3 MTFMT PKD1L1 MEGF8 PIGT CEP290 DGCR2 KDM6A LETM1 NEUROD2 SMARCE1 FANCI MYH7 CCBE1 NDUFAF6 ATP6V1E1 STX1A CCDC22 CREBBP MRAS PAX3 DLL4 NDUFA10 TMEM260 RPS19 SLC35A2 NDUFV2 DNMT3A SMARCA4 FANCL EXOC2 MED12 SMC1A NKAP ASXL1 MYPN NDUFV1 EPHB4 HYLS1 SIX6 MMP14 SKIV2L RPL11 XYLT1 VPS33A UFD1 TRIO RNU4ATAC RIPK4 FBN2 STAMBP GDF3 DYNC2I1 FGF8 SOX4 TAPT1 GTF2IRD2 TGFBR2 GP1BB METTL5 DYRK1A PLXND1 CHD4 PIEZO2 VPS37D BRF1 PCNT LZTR1 FGFR3 DSG1 FKTN GPC6 NDUFAF2 FANCD2 TRIP4 POLR1A RIT1 LMNB1 NF1 PEX6 SURF1 GTF2I HDAC8 ADA2 KRAS MYCN AMMECR1 HOXD13 MMP23B MCTP2 C2CD3 CRB2 MED25 UBR7 SH2B1 SPTBN1 TNFRSF11A TXNL4A PEX10 ATIC WDR37 ADK NUP188 PLAGL1 PIGP TBL2 RFWD3 NOTCH1 RPL27 EP300 SYT1 MEIS2 OTUD5 TRAIP LARP7 ERBB3 COG1 SATB2 FGFR2 CARS1 IGBP1 CASK RPS20 ACTC1 PORCN COL1A2 FOXF1 PPP1CB DVL3 FGFRL1 LIPT1 SLC19A3 NKX2-6 CPLX1 SMN1 RPL26 SMARCC2 PUF60 DNAJC30 SALL1 CDH2 NDUFS8 BCR POR CHD7 GTF2H5 TASP1 MRPL3 MPL EVC2 RAD21 TALDO1 RECQL4 CCNQ SEC24C GDF1 TRIM8 TBX20 EIF2AK3 JMJD1C WBP11 ASCC1 AKT3 NIPBL NSDHL PNKP SOS1 GJA1 SEC31A COX15 FANCA RPL15 DHCR7 SETD2 UBE4B BBS2 STIL TSFM SETBP1 CPE TFAP2B PTPN11 NDUFS7 ABCD4 GPX4 LRP2 SOS2 TBX3 GNB5 GTF2E2 TBCK RPL31 PEX2 MMP21 SIAH1 RBM10 ALG8 ZNF462 USP9X SDHA GATA5 FANCF FOXRED1 WAC TBC1D24 PEX14 GYG1 ARVCF FOXC2 MYOCD RREB1 WASHC5 NDUFAF5 CDK8 HAAO LRP5 MMP2 STXBP1 SOX11 NSD2 FIBP RPS15A LONP1 ARHGAP31 PIK3CA VIPAS39 STK4 GTF2IRD1 KIF11 KIF7 RSPO2 RPL35 FBXW11 RPL35A FANCC SLC12A2 SCN1B DNAJC19 SNX14 TSR2 ROBO4 RAC1 APC2 UQCRC2 SDHD NDUFA2 DPF2 LBR SHMT2 SEMA3E DGCR8 MYH6 SMARCB1 WDR26 CDC42 IRX5 GNAO1 XRCC2 TBX2 SHANK3 MYMK TMCO1 AMER1 PKDCC PIGF MAGEL2 ECE1 INTU YY1 KAT8 COG6 SVBP PAH POLA1 TLL1 SMARCD1 PTF1A SALL4 FLCN CYP27A1 MAD2L2 LEMD2 RAI1 HOXA13 UMPS GNPTAB PEX11B GDF6 UPF3B EOGT PCGF2 WDR35 ACADVL TBX22 FUT8 NDUFA9 NCAPG2 LAT2 HSPA9 KCNAB2 IFT172 DSE B3GALT6 AGGF1 MLXIPL CHRM3 RPS7 DGCR6 TGFBR1 AGO2 STAT1 BSCL2 LIMK1 SKI TRRAP MTX2 SF3B4 BAZ1B NDUFA4 NDUFS1 ARX KDM3B CASZ1 SNRPN PRDM16 NOTCH3 LTBP4 PEX13 YARS1 FLI1 MOGS BMPR1A DDX11 CD96 VPS35L MKKS FKBP6 CLDN4 MYL2 TRIP13 FANCG NDUFS4 SYNE1 SPATA5 MT-CYB CTU2 CFC1 DTNA BRIP1 MAP3K7 SMG8 GABRD IFT81 FANCM HP_COMPLETE_ATRIOVENTRICULAR_CANAL_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMPLETE_ATRIOVENTRICULAR_CANAL_DEFECT NKX2-5 NKX2-6 CDC45 GDF1 TBX1 PUF60 PRKACA WDPCP GATA1 TRIO INTU HYLS1 GATA6 HP_CORONARY_ARTERY_ATHEROSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORONARY_ARTERY_ATHEROSCLEROSIS BRCC3 MYLK CYP7A1 PPARG LMNA SMAD2 TGFBR2 ABCA1 PRKG1 XYLT2 ERCC6 FBN1 KCNJ5 ABCG8 FOXE3 MYH11 LOX PNPLA2 LDLR SMPD1 MAT2A APOB PPP1R17 ELN ERCC8 APOA2 LIPC TGFB2 PCSK9 XYLT1 SMAD3 GHR TGFB3 ABCC6 MFAP5 ACTA2 ABCG5 ZNF687 LDLRAP1 EPHX2 ESR1 SERPIND1 TGFBR1 APOE CEP19 HEY2 CYP27A1 SMAD4 HP_ABNORMAL_AORTIC_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_AORTIC_MORPHOLOGY KMT2E COL1A1 NR2F2 CCDC32 GTF2I B3GALT6 NRAS LEMD3 SIX3 BUB1B COL3A1 DNAH1 PRKG1 ADA2 KMT2D PTPN22 FGFR1 MYCN RTL1 KANSL1 ENG MMP23B MCTP2 WDFY3 ERCC8 MYH7 ZIC2 TGFB2 SPTBN1 GATA1 ARF1 SPEN P4HA2 MAP2K1 SMAD3 KRAS ACTA2 ZEB2 ABCG5 IFIH1 FLNB SAMHD1 ELN GRIA4 COX7B ADK DNAJB11 GATA4 NXN NOTCH1 ACTL6B KCNMA1 TBL2 RPS27 RFWD3 HEY2 EP300 ERCC4 MEIS2 MYLK NF1 ALDH18A1 HLA-B HUWE1 PIGN DIS3L2 MKS1 FGFR2 BPTF CARS1 RERE PRKCZ PTPN23 TMTC3 RPS20 TSC1 UBR7 SUCLG1 TDGF1 SHH COL1A2 TSC2 PPP1CB CTCF ROR2 MEG3 GJA5 RPS29 NKX2-6 RPS10 LOX NCF1 FLNA HPDL RPL26 HCCS TGFBR3 PUF60 GBA DNAJC30 HNRNPK BCORL1 NEDD4L DISP1 CDH2 KDM4B SRCAP AEBP1 BCR PSMD12 COL5A2 FKBP14 TPM3 FGF8 CHD7 ADAR BCL7B AGO2 RPS24 TALDO1 GATA6 SMAD4 JARID2 CRELD1 SEC24C TBX1 TPM2 SPECC1L B3GAT3 GDF1 RPL27 BUB1 COMT TBX20 COL5A1 ZMIZ1 JMJD1C SLC2A10 BRCA2 C12orf57 MYH11 WASF1 TRAF7 ANGPTL6 TREX1 EIF4H STAG2 RIN2 PTCH1 GLI3 FMR1 NKX2-5 GJA1 JAG1 SVBP FANCA AFF4 TANC2 RPL15 PPP2R1A DHCR7 LDLRAP1 NOD2 MED13L SETD2 MED27 TBX5 UBE4B MYH3 STIL APOE FBN1 BUD23 ARFGEF2 CNOT3 HIRA GLI2 TCF20 CLDN3 CREBBP CYP7A1 ABCD4 ABCC6 KAT8 FANCB SOS2 FOXH1 WT1 FBN2 HSPG2 SMAD6 EHMT1 SMG9 RPL31 AMER1 TGFBR2 MMP21 DOCK3 ALG9 FANCF KDM6A WAC ARVCF SRY NEK9 ERMARD RREB1 TAB2 CEP57 LZTR1 TRMT1 BRCA1 TMEM270 TRAPPC4 RPS17 CDK8 SATB1 FBXW11 PDPN MMP2 MADD RAD51C TENT5A MYT1L RPS28 RPS15A GAS1 BUB3 STRA6 FBLN5 GTF2IRD1 RPL18 TGIF1 SLC25A24 FOXE3 NTNG1 CHRNG RPL35 ESS2 APOB FOXF1 RPL35A IDS PCSK9 BCOR TGFB3 PGM3 SLX4 ABL1 CHST3 SLC12A2 PTPN11 TSR2 ROBO4 APC2 DLL1 METTL27 GANAB TGFBR1 SEMA3E MLX DGCR8 LMNA MFAP5 ZNF148 NSMCE2 WDR26 XRCC2 HS2ST1 HDAC4 SLC34A2 WDPCP UBE3B MYPN PUS7 HLA-DRB1 RPL5 NODAL PLOD1 NDUFB11 RNASEH2B ZMPSTE24 LUZP1 THSD1 TGDS RLIM RPS26 ACTL6A FANCC RFC2 MAPK8IP3 ACVR2B BRAF CDON UBE2T PAH PTEN CRKL RAD51 ALG3 HRAS RBM8A MAP1B MAD2L2 PALS1 KDELR2 RAI1 ENPP1 RNASEH2C HGD CLIP2 FANCE ABHD11 PKD1 RNASEH2A DGCR2 NSD1 DYNC2LI1 KCNH1 FANCI LAT2 MBTPS2 STX1A KCNAB2 GJA8 TRIP12 TMEM260 RPS19 DNMT3A FANCL IL12B RPS7 FLT4 MED12 GATA5 DGCR6 NKAP MAPK1 LIMK1 SKI TRRAP MMP14 BAZ1B RPL11 SMAD2 DPYSL5 PKD2 ERCC6 BICC1 DDX6 UFD1 MED13 RNU4ATAC CASZ1 LDLR PRDM16 UNC45B NTNG2 MAT2A FLI1 GTF2IRD2 GP1BB FKBP6 PLXND1 CHD4 CLDN4 HTT VPS37D BRF1 TRIP13 FANCG MLXIPL TNRC6B ABCG8 EFEMP2 BRIP1 FANCD2 GABRD DLK1 PIK3R2 FANCM PTH1R PALB2 BGN HP_COARCTATION_OF_AORTA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COARCTATION_OF_AORTA CRELD1 NKX2-5 RPS28 GDF1 NR2F2 SPECC1L RPS15A GAS1 NRAS BUB3 RPL27 STRA6 BUB1B SMAD4 BUB1 ADA2 NODAL TBX20 RPL18 KMT2D TGIF1 TALDO1 FANCB SRCAP TRAF7 RPL35 MCTP2 KDM6A DYNC2LI1 KRAS FOXF1 RPL35A ZIC2 GLI2 MYH7 STAG2 GLI3 GATA1 PTCH1 GJA8 SHH ABL1 CTCF SIX3 MAP2K1 CREBBP GJA1 JAG1 ZEB2 PTPN11 RPL15 DHCR7 TSR2 RPS19 MED13L ADK GATA6 RPS7 GATA5 TBX1 GATA4 NOTCH1 DLL1 RPS27 EP300 MEIS2 TRRAP MMP14 NF1 ABCD4 ZNF148 RPL11 SOS2 FOXH1 WT1 MKS1 WDPCP SMAD6 UBE3B RPS20 RNU4ATAC EHMT1 SUCLG1 TDGF1 RPL5 CEP57 RPL31 AMER1 UNC45B PPP1CB PUF60 FLI1 MED12 TGDS GJA5 RPS29 NKX2-6 RPS10 RPS26 WAC RPL26 BRAF CHD4 CDON TRIP13 PAH SRY CDH2 LZTR1 ALG3 HRAS FGF8 RBM8A RPS17 CDK8 DISP1 MMP2 RPS24 PTH1R FGFR1 HP_ANGINA_PECTORIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANGINA_PECTORIS CRELD1 NR2F2 XYLT1 PMM2 GLA ENPP1 PRTN3 HLA-DPB1 LCAT ABCC6 XYLT2 HLA-DPA1 MPL ABCG5 LDLRAP1 PTEN PNPLA2 TET2 IDUA CYP27A1 GATA6 APOE LDLR LIPC ABCG8 JAK2 GATA4 APOB ZMPSTE24 CTLA4 LMNA PCSK9 PTPN22 HP_SUBVALVULAR_AORTIC_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBVALVULAR_AORTIC_STENOSIS CEP57 HDAC4 MYH6 BUB3 TAB2 BUB1B BUB1 FGFR1 MYH7 PTPN11 WDPCP IFIH1 TRIP13 MYLK2 NKX2-5 CAV3 HP_SECUNDUM_ATRIAL_SEPTAL_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SECUNDUM_ATRIAL_SEPTAL_DEFECT PTF1A RPL11 GATA6 SHMT2 NF1 TBX5 TRIP4 GDF1 SH3PXD2B METTL5 MYH6 NR2F2 PGAP1 NKX2-5 HP_MYOCARDIAL_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOCARDIAL_FIBROSIS PPA2 KIF20A MYPN FKTN TNNI3 LAMP2 RPL3L JPH2 TRIM37 ALMS1 FLNC SERPINE1 TNNT2 HP_LOSS_OF_VOICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOSS_OF_VOICE SDHC SDHAF2 SDHD ASAH1 SDHA FTL HP_SINUS_BRADYCARDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SINUS_BRADYCARDIA SCN5A LMNA CACNA1C CALM1 AKAP9 SCN4B CAV3 KCNQ1 CALM2 KCNJ5 SNTA1 NOS1AP MYO1H PRKAG2 GNB2 KCNE2 CALM3 HCN4 KCNH2 BVES TBX5 SCN10A ANK2 TNNI3K HEPHL1 TRDN KCNE1 HP_ATRIAL_ARRHYTHMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATRIAL_ARRHYTHMIA CRELD1 KCNE2 KIF20A NODAL CACNA2D1 SCN3B POLG CASQ2 KCNJ5 SCN1B NUP155 HCN4 NKX2-5 DMPK KCNQ1 CACNA1C PRKAG2 LMNA ANK2 FHOD3 MYH6 NPPA KCNH2 SCN5A MYH7 MYPN ABCC9 SMAD3 ACTN2 GNB2 GATA6 TBX5 SCN2B POLG2 TTN CAVIN1 TBX20 RYR2 NEXN TLL1 GATA4 FLNC KCNJ2 MFAP5 TMEM43 TNNI3 EMD PLN GATAD1 GJA5 MYOZ2 CSRP3 TNNT2 TNNC1 APRT CACNB2 GATA5 NR2F2 MYL4 TWNK CLIC2 CITED2 RRM2B MT-CYB SCN4B TRDN KCNA5 TAB2 ACTC1 SLC25A4 DTNA XK SGO1 TNNI3K LRP12 HP_CARDIAC_SHUNT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIAC_SHUNT ACVRL1 TBX20 GDF1 MYH11 THOC6 ENG ACTC1 GATA4 TLL1 FOXF1 CITED2 MED13L GATA6 MYH6 NKX2-5 HP_CARDIAC_ARREST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIAC_ARREST RYR2 SCN5A JUP ABCA3 PKP2 KCNE1 ENPP1 MYL3 GTF2I SLC25A20 GBA LRP6 RAB3GAP2 GTF2IRD1 TNNI3 HLA-B PTPN22 CACNA2D1 CLIP2 CASQ2 KCNJ5 RBM20 NDUFB11 WAS HCN4 SEMA3A ABHD11 LDB3 GPD1L TMEM43 KCNE3 APOB ELN SYNE1 SLC2A10 CACNA1C CALM1 CACNB2 LMNA PRKAG2 KCNQ1 ANK2 SCN10A FHOD3 EIF4H ABCA12 KCNJ8 PCSK9 KCNH2 CRLF1 LAT2 MYH7 STX1A AKAP9 CAV3 P4HA2 GNAI2 ABCG5 TRPM4 ACTN2 TOR1A TANGO2 SNTA1 DES LDLRAP1 SFTPB KCNE2 RANGRF EYA4 SLC19A2 PGM1 BUD23 TBX5 SCNN1A LEMD2 DPP6 METTL27 TGFBR1 TBL2 CPT1A SCN3B CALM2 LIMK1 TRDN CLDN3 BAZ1B HMGCL AKT1 ALG10B SCN4B TSPYL1 KCND3 EMD CLCF1 WIPF1 CALM3 SCN2B HLA-DRB1 PTEN ACADVL LDLR TGFBR2 FHL1 ABCC6 TECRL KCNJ2 CSRP3 DSP GTF2IRD2 TGFB3 SYNE2 NCF1 RFC2 FKBP6 ACAD9 SFTPC SLMAP CLDN4 NOS1AP DNAJC30 IKZF1 MYL2 VPS37D MLXIPL MRPL12 ABCG8 MYBPC3 DNAJC19 TMEM270 DTNA DSC2 ABCC9 BCL7B DSG2 TNNI3K SCN1B KCNE5 HP_ABNORMAL_PERICARDIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PERICARDIUM_MORPHOLOGY PMM2 PRG4 FCGR2B TSC1 ABCC6 TSC2 ENPP1 PRTN3 UBAC2 SMAD4 FAT4 CLCNKB IL10 CCBE1 HLA-DPA1 IL23R LYST GATA6 IL12A GBA PTPN22 ALG9 MAF TREX1 EIF2AK4 HLA-DRB1 CDH23 MCM10 MEFV KIAA1109 ACADVL CCR1 IL6 KLRC4 STAT4 UQCRFS1 ADAMTS3 LMNA IL12A-AS1 NOD2 C4A FCGR2A PTPN14 FAS HLA-DPB1 P4HA2 CALCRL TRIM37 ABCC9 HBA1 HLA-B DNASE1 DNASE1L3 CTLA4 IRAK1 ITK ERAP1 AEBP1 HBA2 MYBPC3 SCARB2 SLC12A3 TLR4 MIF SPP1 EPHB4 PLVAP LACC1 TNFRSF1A HP_PERICARDIAL_EFFUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERICARDIAL_EFFUSION PTPN14 PMM2 LMNA STAT4 TSC1 ABCC6 TSC2 ENPP1 SMAD4 CALCRL CLCNKB ABCC9 CCBE1 LYST GBA DNASE1L3 ALG9 IRAK1 FAT4 EIF2AK4 MAF ITK AEBP1 CDH23 MCM10 MYBPC3 KIAA1109 HLA-DRB1 ACADVL SCARB2 SLC12A3 UQCRFS1 ADAMTS3 SPP1 EPHB4 PLVAP HP_SUDDEN_DEATH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUDDEN_DEATH RYR2 SCN5A JUP PKP2 SCN1A KCNE1 ENPP1 MYL3 GTF2I LRP6 GTF2IRD1 TNNI3 HLA-B PTPN22 CACNA2D1 CLIP2 CASQ2 RBM20 HADHA WAS ABHD11 LDB3 GPD1L TMEM43 APOB MYH7 ELN SYNE1 CACNA1C CALM1 LMNA PRKAG2 KCNQ1 AKAP10 ANK2 UBR7 FHOD3 EIF4H ABCA12 PCSK9 KCNH2 CRLF1 LAT2 HRAS STX1A TTN AKAP9 P4HA2 SMAD3 GNAI2 KCNJ5 ABCG5 SNTA1 DES LDLRAP1 KCNE2 CAV3 MLXIPL EYA4 PGM1 BUD23 TBX5 LEMD2 DPP6 METTL27 TBL2 CPT1A LIMK1 TRDN CLDN3 BAZ1B AKT1 TAB2 ALG10B SCN4B TECRL CALM2 EMD CLCF1 WIPF1 CALM3 HLA-DRB1 PTEN ACADVL LDLR FHL1 ABCC6 SCN10A KCNJ2 CSRP3 DSP GTF2IRD2 TGFB3 MYH6 SYNE2 NCF1 RFC2 SOST FKBP6 ACAD9 CLDN4 NOS1AP DNAJC30 IKZF1 MYL2 VPS37D ABCG8 DNAJC19 TMEM270 DTNA DSC2 BCL7B DSG2 MYLK2 MYLK TNNT2 HP_PERICARDITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERICARDITIS PMM2 PRG4 FCGR2B FAS PRTN3 HLA-DPB1 P4HA2 UBAC2 NOD2 IL10 HBA1 HLA-DPA1 HLA-B IL23R IL12A DNASE1 PTPN22 CTLA4 MAF TREX1 HLA-DRB1 ERAP1 HBA2 MEFV CCR1 IL6 KLRC4 STAT4 TLR4 MIF IL12A-AS1 C4A LACC1 FCGR2A TNFRSF1A HP_ABNORMAL_TRICUSPID_VALVE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TRICUSPID_VALVE_MORPHOLOGY CRELD1 NR2F2 TBX1 SEC24C YY1 MYRF MYH7 COL1A1 ARVCF COMT KRAS NDUFB11 GATA6 FBN1 HCCS JMJD1C TMEM260 MYCN UFD1 COL5A1 AGGF1 COX7B PCGF2 IDS CCDC22 RREB1 COL5A2 RPS6KA3 WASHC5 MMP21 GATA4 NXN FLNA ROR2 FOXF1 PLD1 HIRA GP1BB FGFR1 JPH2 NONO HP_TRICUSPID_VALVE_PROLAPSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRICUSPID_VALVE_PROLAPSE COX7B PCGF2 COL1A1 COL5A2 KRAS FBN1 PLD1 NDUFB11 HCCS FGFR1 FLNA COL5A1 HP_ENDOCARDIAL_FIBROELASTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENDOCARDIAL_FIBROELASTOSIS TAFAZZIN IDUA ACTN2 GJA5 MCM10 SLC22A5 CSRP3 HP_ABNORMAL_RIGHT_VENTRICLE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RIGHT_VENTRICLE_MORPHOLOGY GDF1 HACD1 MYH7 VPS33B COLQ NKX2-6 SFTPB ACTA1 VIPAS39 TPM3 GATA6 SREBF1 TRAPPC11 ALG9 FLNA NPHP3 FIBP BTK STAMBP PIGN MMP21 FCGR2A FOXF1 SELENON CFTR CDH2 MYH6 NONO MYL2 TPM2 GATA4 TBX20 PLXND1 TGFB1 SGCG CITED2 MED13L BMPR2 NKX2-5 MAP3K20 GTPBP3 TTN LAMB2 ACTC1 TLL1 NOTCH1 DYSF ITGA7 HP_THIRD_DEGREE_ATRIOVENTRICULAR_BLOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIRD_DEGREE_ATRIOVENTRICULAR_BLOCK MT-TL1 SCN5A LMNA PTPN11 DES RRM2B MT-ATP8 HP_ABNORMAL_LEFT_VENTRICLE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LEFT_VENTRICLE_MORPHOLOGY SPEG MYL3 TRMT10C GNPTAB BUB3 B3GAT3 MEN1 BUB1B MT-TL1 BUB1 ATP6AP2 GATA6 TNNI3 ACTC1 HADHA ARL6 POLG COG1 SLC25A24 MT-CO2 HCN4 NKX2-5 TCAP MT-TV LDB3 C1QBP SVIL POMT2 WDR35 SDHAF1 MT-TF GYS1 JPH2 MYH7 WDPCP IFIH1 GLA SCN5A SMAD3 CHST3 COQ9 ABCC9 MT-TK AIP ACTN2 EGFR CCDC28B GLRX5 PRDM16 FKRP SDHD CAV3 POLG2 HADHB GTPBP3 GATA5 TPK1 NEXN SCO1 NOTCH1 MYPN MT-TS1 COQ7 MTX2 MT-ND1 ABCA1 HSD11B2 MT-ND6 PLN ALG9 EPG5 ESPN MT-ND5 MYOZ2 BBS1 CEP57 RYR1 COL1A2 COX16 BIN1 SDHB SMAD6 MT-TW ZNF462 POMT1 MOGS MT-CYB MT-TQ NONO ADAM17 MYH6 TWNK TTN SDHA ZNF687 MYL2 TRIP13 RRM2B KCNJ5 LZTR1 HDAC4 MT-TC TAB2 SLC25A4 FGFR1 DTNA MT-TS2 GAA PTPN11 CACNA1D TLL1 MT-CO3 MYLK2 TNNT2 RIT1 MT-CO1 HP_LEFT_VENTRICULAR_HYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEFT_VENTRICULAR_HYPERTROPHY SPEG MYL3 TRMT10C GNPTAB B3GAT3 MEN1 MT-TL1 ATP6AP2 TNNI3 ACTC1 HADHA ARL6 POLG COG1 SLC25A24 MT-CO2 HCN4 NKX2-5 TCAP MT-TV LDB3 C1QBP SVIL POMT2 WDR35 SDHAF1 MT-TF GYS1 JPH2 GLA SCN5A SMAD3 CHST3 COQ9 ABCC9 MT-TK AIP ACTN2 EGFR CCDC28B GLRX5 FKRP SDHD POLG2 HADHB GTPBP3 TPK1 NEXN SCO1 MYPN MT-TS1 COQ7 MTX2 MT-ND1 ABCA1 HSD11B2 MT-ND6 PLN EPG5 ESPN MT-ND5 MYOZ2 BBS1 RYR1 COL1A2 COX16 BIN1 SDHB MT-TW ZNF462 POMT1 MOGS MT-CYB MT-TQ NONO ADAM17 TWNK TTN SDHA ZNF687 MYL2 RRM2B KCNJ5 LZTR1 MT-TC SLC25A4 DTNA MT-TS2 GAA CACNA1D TLL1 MT-CO3 TNNT2 RIT1 MT-CO1 HP_ABNORMAL_CARDIAC_VENTRICLE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CARDIAC_VENTRICLE_MORPHOLOGY WNT4 NR2F2 NF1 PEX6 SURF1 GTF2I RNU4ATAC HDAC8 SATB1 MGP SIX3 BUB1B ADA2 NUP107 TPM3 TNNI3 KMT2D FGFR1 PDHA1 ARL6 MYCN RTL1 MT-CO2 HCN4 MIR17HG MT-TV RAB23 KANSL1 LDB3 SVIL JPH2 RERE C2CD3 OTUD6B CRB2 PPP2R5D ARSL UBR7 MYH6 ZIC2 SPTBN1 KAT5 TNFRSF11A MYRF NAA10 PIK3CA GATA1 TGFBR2 ANKRD11 TXNL4A PEX3 MAP2K1 SMAD3 XYLT2 PMS2 SGCG ZEB2 ABCG5 AIP AGL PEX10 CDK13 PEX12 WDR37 PRDM16 FLNB COX7B MGAT2 MLH3 POLG2 TBX20 NUP188 MSH2 PLAGL1 KCNA1 CSGALNACT1 NXN NOTCH1 ADAMTS10 PIGP TBL2 GPC4 RPS27 EP300 PRKAG2 DYSF MEIS2 CWC27 NKX2-1 OTUD5 HACD1 ABCA1 TRAIP ERBB3 FIG4 SATB2 FGFR2 SGCD IGBP1 CDKL5 PEX16 TRAPPC11 ESPN CASK SEMA4A RPS20 CCDC174 PORCN BBS1 SHH NKX2-5 COL1A2 ARCN1 COX16 FOXF1 LARS2 PPP1CB CALM3 PIGN VAC14 ZNF699 NDUFC2 ROR2 MEG3 GPC3 FCGR2A MT-TW DVL3 UQCRFS1 POMT1 TACO1 ERCC2 EXT2 PQBP1 FGFRL1 LIPT1 LMNA SIK1 SLC19A3 RPS29 CACNA1D CPLX1 TPM2 RPS10 NCF1 HYMAI SMN1 GPR101 INSR ATRX RPL26 TGFB1 HCCS SMARCC2 PUF60 DNAJC30 HNRNPK BMPR2 DISP1 PEX19 RRM2B DPH1 NDUFS8 HDAC4 BCR MT-TC MYBPC3 FGF8 UBE2A FBN1 BCL7B GTF2H5 PTPN11 TASP1 TLL1 RPS24 MYLK2 RAD21 TALDO1 CACNA1C ITGA7 SPEG SEC24C TBX1 PKP2 DMXL2 ARID2 MYL3 SPECC1L SOX2 COLQ ALKBH8 SLC25A20 B3GAT3 GDF1 RPL27 FANCI BUB1 COMT TRIM8 SREBF1 JMJD1C SLC2A10 HADHA YY1AP1 COG1 DYRK1A MPLKIP TCTN3 CDC45 POMT2 SDHAF1 MT-TF UBR1 NSD1 PET100 SHOC2 ELN ARID1B WBP11 AKT3 NOTCH2 NIPBL GLI1 NSDHL EIF4H TTC7A NPPA NDUFA12 PNKP HRAS NDUFS2 SCN5A GLI3 NDUFS3 GATA4 SOS1 SEC31A COX15 COQ9 ABCC9 NONO NEK1 JAG1 MT-TK TMEM94 AFF4 FHL1 RPL15 DHCR7 LDLRAP1 DLK1 FBLN5 MED13L SETD2 GATA6 FKRP TBX5 TP63 MAP2K2 CAV3 STIL BRD4 GTPBP3 TARS1 BUD23 CCDC22 KAT6A NDUFA13 HIRA STAG2 GLI2 MT-TS1 CLDN3 TFAP2B NDUFS7 RPS26 CREBBP COQ7 ABCC6 MYH7 IGF1R NKX2-6 LRP2 HSD11B2 SFTPB SOS2 RPL10 WT1 TBX3 EVC2 SMG9 GTF2E2 TBCK KAT6B RYR1 BTK RPL31 PEX2 MMP21 SDHB FAN1 ZNF462 SLC29A3 SETD5 SDHA TNNC1 GATA5 CANT1 FOXRED1 PIK3R2 CCND2 WAC TBC1D24 PEX14 PHGDH GYG1 ARVCF FOXC2 CITED2 B3GLCT MYOCD VPS13B KCNJ5 NEK9 COX6B1 TTN LAMB2 RREB1 TAB2 CEP57 LZTR1 WASHC5 NDUFAF5 TMEM270 RPS17 CDK8 GAA LRP5 MMP2 ECHS1 STXBP1 SOX11 SDHD FIBP RPS28 RPS15A LONP1 BMPR1A TRMT10C BUB3 ARHGAP31 STRA6 MLH1 VIPAS39 BMP2 MEOX1 ATP6AP2 GTF2IRD1 RPL18 PEX1 DYNC2LI1 SLC25A24 ESCO2 SPEN KRAS NPHP3 FADD FANCB CCDC32 C1QBP GYS1 RSPO2 RPL35 ESS2 PEX26 APOB PIGQ NSD2 TCIRG1 RPL35A NFIX SELENON WDPCP MYL2 PCSK9 BCOR ZIC3 GLA SMC3 FANCC RARB SLC12A2 ABL1 TKT CHST3 SCN1B ACTN2 CCDC28B DNAJC19 TSR2 RAC1 APC2 RRAS2 SLC19A2 HADHB NDUFA2 GMPPB MASP1 DPF2 LBR FTO SCO1 RNF113A EFEMP2 METTL27 PIGL DGCR8 GJA1 MTFMT CKAP2L CHD7 PSMD12 SMARCB1 NSMCE2 WDR26 GNAO1 ACTA1 RYR2 SALL1 MT-ND6 UBE3B PEX5 EPG5 SHANK3 MT-ND5 LTBP2 RPL5 AMER1 ERCC3 NDUFB11 ZMPSTE24 SMAD6 ECE1 SH3PXD2B CFTR CDH2 TGDS MT-TQ ADAM17 KAT8 COG6 RFC2 NOD2 ACVR2B BRAF SVBP ZNF687 TTC37 PAH POLA1 CRKL SMARCD1 TET3 ACTC1 SALL4 SLC25A4 RPL3L SNRPB RBM8A MED25 SLC25A22 TNNT2 TGFB3 ARID1A MT-CO1 LEMD2 PALB2 SOX4 RAI1 VPS33B CTBP1 ENPP1 HOXA13 UMPS GNPTAB MEN1 SMAD4 MT-TL1 NODAL PEX11B SEMA3E CLIP2 POLG GDF6 THOC6 EVC FLNA SCN2A ABHD11 TCAP EOGT EFTUD2 WDR35 PKD1L1 ACADVL CEP290 DGCR2 LETM1 NEUROD2 SMARCE1 IFIH1 MSH6 CCBE1 NDUFA9 NDUFAF6 LAT2 KDM6A ATP6V1E1 STX1A IFT172 RPL11 SON DLL4 EGFR NDUFA10 GLRX5 B3GALT6 TMEM260 RPS19 NDUFV2 SMARCA4 MLXIPL CHRM3 EXOC2 RPS7 MED12 TPK1 EPCAM DGCR6 SMC1A NEXN NKAP CPT2 ASXL1 MAPK1 BSCL2 MYPN NDUFV1 LIMK1 HYLS1 SIX6 MMP14 MTX2 SF3B4 BAZ1B SKIV2L MT-ND1 XYLT1 NDUFA4 NDUFS1 PACS1 PLN ALG9 UFD1 ARX PMS1 MYOZ2 KDM3B FBN2 STAMBP LDLR BIN1 GDF3 NOTCH3 DYNC2I1 PEX13 YARS1 TAPT1 FLI1 GTF2IRD2 GP1BB ALG12 MOGS MT-CYB DDX11 TWNK CD96 MKKS FKBP6 PLXND1 CHD4 CLDN4 PIEZO2 VPS37D BRF1 TRIP13 NDUFS4 SYNE1 MAP3K20 CTU2 NDE1 ABCG8 DSG1 GPC6 DTNA MT-TS2 NDUFAF2 SMG8 IFT81 MT-CO3 RIT1 HP_VENTRICULAR_HYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULAR_HYPERTROPHY SPEG GDF1 MYL3 VPS33B COLQ ENPP1 TRMT10C GNPTAB SLC25A20 B3GAT3 MEN1 MT-TL1 VIPAS39 ATP6AP2 TNNI3 RPL5 ACTC1 SLC2A10 COX7B HADHA ARL6 POLG COG1 SLC25A24 MT-CO2 HCN4 NKX2-5 TCAP TALDO1 MT-TV NPHP3 LDB3 C1QBP SVIL POMT2 WDR35 SDHAF1 MT-TF GYS1 JPH2 FOXF1 SELENON GLA SCN5A ATP6V1E1 SMAD3 CHST3 COQ9 ABCC9 NONO SGCG MT-TK AIP ACTN2 AGL EGFR FHL1 CCDC28B GLRX5 MED13L FKRP SDHD POLG2 HADHB GTPBP3 TPK1 NEXN SCO1 CPT2 MYPN NOTCH1 MT-TS1 PRKAG2 LMNA DYSF COQ7 MTX2 MT-ND1 NSMCE2 ABCC6 ABCA1 MYH7 NKX2-6 HSD11B2 SFTPB SGCD MT-ND6 PLN EPG5 ESPN MT-ND5 MYOZ2 BBS1 RYR1 COL1A2 STAMBP COX16 BIN1 PIGN ZMPSTE24 SDHB MT-TW ZNF462 POMT1 ALG12 MOGS MT-CYB MT-TQ TNNC1 CACNA1D ADAM17 TWNK WAC GPR101 NOD2 GYG1 PLXND1 TTN SDHA ZNF687 MYL2 BMPR2 RRM2B KCNJ5 LZTR1 COX6B1 LAMB2 MT-TC MYBPC3 SLC25A4 DTNA MT-TS2 GAA TLL1 MT-CO3 TNNT2 RIT1 MT-CO1 HP_MITRAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MITRAL_STENOSIS FBN1 XYLT1 ADAMTSL2 ZNF148 LZTR1 NKX2-5 MCTP2 UBE2A ZMPSTE24 ABCC6 XYLT2 PLD1 HAAO GBA NOTCH1 CHST3 NOTCH2 LMNA GJA1 HP_HIGH_OUTPUT_CONGESTIVE_HEART_FAILURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_OUTPUT_CONGESTIVE_HEART_FAILURE CACNA1S HBB RASA1 EPHB4 ENG RYR1 HP_RESTRICTIVE_CARDIOMYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESTRICTIVE_CARDIOMYOPATHY XYLT1 SLC4A1 SPTA1 DES EPB42 ENPP1 MYL3 MCM10 KIF20A SPTB ABCC6 PIGT ANK1 XYLT2 PDGFRA TNNI3 ACTC1 HP_PROGRESSIVE_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_HEARING_IMPAIRMENT MYH14 TENT5A DMXL2 MT-ND1 KDELR2 FGF3 GATA3 LARS2 NLRP3 GJB2 SCD5 MT-TL1 ALMS1 MT-ND6 ATP1A3 BDP1 MT-ND5 MYO6 MT-CO2 POLR3GL PEX11B OPA1 MT-TV MPZL2 MT-TF WFS1 MT-TW SP7 GSDME TPRN MT-CYB MYO3A MT-TQ MBTPS2 MT-TK ARSG MPZ SERPINB6 TIMM8A IARS2 TBC1D24 POU3F4 MT-TC SYNE4 MIR96 GRXCR1 GIPC1 TWNK MT-TS2 MCM2 P2RX2 ACTG1 MT-TS1 GJB6 MT-CO3 GFER DIAPH1 MT-CO1 HP_ABNORMALITY_OF_THE_PANCREAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PANCREAS PPARG PALLD RAD51D PALB2 DIS3L2 MAFA HLA-DPA1 VHL STX1A FLI1 HNF1B MT-ND6 TERT CPA1 CDKN2B HOXD13 KCNJ11 WDR19 MMP23B NR1H4 PTF1A DNAJC21 PKHD1 CCR1 UCP2 RAD51 EFL1 NHP2 PIK3CA TGFBR2 FAS TCTN1 CTNS SPEN MT-TS2 BRCA1 EWSR1 PMS2 MMUT SEC63 CDK4 MLH3 DNAJB11 MSH2 RFX6 INS SLC6A14 LMNA GPC4 STAT3 MRE11 CFTR STRA6 ATP8B1 TP53 BCKDHB RERE PRKCZ GCLC CHEK2 SEMA4A PARN PDX1 SIK3 SLC26A9 DKC1 TERF2IP FOXF1 MADD MITF ALMS1 GPC3 FCGR2A RARB STAT4 SRP54 SMAD4 RPGRIP1L GLIS3 NPHP3 LBR SLC7A7 TMEM67 MC1R TINF2 B9D1 ASXL1 TGFB1 PCCA PUF60 CDKN2A PDGFRB CDKN1B KCNN4 ERAP1 MT-TW SETBP1 ACD MDM2 DCTN4 TXNDC15 ACTG2 EDNRA CEACAM6 HFE STK11 HNF4A BRCA2 EIF2AK3 IL23R PNPLA2 RECQL4 FAH GSTM3 BARD1 UBR1 YY1 SPINK1 GCK CEL PAX4 NTHL1 B9D2 NEK1 JAG1 CDKN1C MGMT MEN1 UBE4B SLC37A4 APOE MKS1 MEFV NDUFS3 TMEM216 ABCC6 IL10 KRAS HSPG2 KCNQ1 CLCA4 DZIP1L NBN CDC73 SLC25A13 CC2D2A BRD4 ABCB11 HNF1A FAN1 SLC29A3 NFS1 ALG9 MT-TF SLC11A1 CDKN2C MT-TQ PRSS2 MYC CTC1 CDKN1A ABCC8 G6PC1 CTLA4 PDPN TF ABCB4 CASR CEP290 RNF43 BMPR1A MT-TS1 MLH1 UBAC2 SLC16A1 TMEM231 MYCN PRSS1 OFD1 ATP6AP1 TCTN3 APC LRP5 SBDS KLRC4 TERC PRKCSH KCNQ1OT1 C4A TELO2 GPR35 CSPP1 GATA6 LMF1 GANAB CBS TLR4 BRIP1 MT-TH NSMCE2 BAP1 TCF4 MIF CYBC1 BLK POT1 MT-CO1 NADK2 NOTCH3 RPS20 NOP10 WT1 GNAS IL12A-AS1 LUZP1 CEACAM3 FLNB PRKAR1A HLA-DPB1 RAD51C SEMA4D IGF2 IKZF1 NPM1 CTRC TKFC RBM8A SLC12A3 RABL3 MT-ND4 TMEM237 TMEM107 ENPP1 PRTN3 IFT172 CLCNKB MT-TL1 SERPINA1 HLA-B TTC37 GCGR RMRP PKD1 LPL AAGAB PTEN RPGRIP1 COL14A1 COX4I2 MSH6 MT-CO2 CNOT1 KCNAB2 NEUROD1 FANCD2 HJV SMARCAL1 MT-ND1 NUTM1 EPCAM HMOX1 MT-ND5 BSCL2 APOC2 SKI GNA11 HMGCL KLF11 MT-CO3 PKD2 BICC1 APPL1 IL12A PMS1 RTEL1 CASZ1 ARX PRDM16 MST1 XPNPEP3 LHX1 CCND1 PTRH2 WRAP53 BCKDHA DYNC2I1 USB1 HAMP PCCB YARS1 AP2S1 STUB1 RAD50 PTPN22 FGFR2 SLC9A3 AGPAT2 INSR TCTN2 CIDEC GABRD CAV1 CP DBT HP_PANCREATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATITIS PPARG PRTN3 MT-TS1 IFT172 UBAC2 MT-TL1 HLA-DPA1 FLI1 IL23R PNPLA2 PRSS1 HLA-B SLC37A4 MT-ND6 GCGR CPA1 LPL PRSS2 MEFV SPINK1 CCR1 KLRC4 CTRC C4A MT-CO2 CASR ABCB4 FAS MT-TS2 MMUT CFTR GPR35 SMARCAL1 SLC25A13 MT-ND1 APOE MT-ND5 LMF1 LMNA CBS BSCL2 TLR4 MT-TH APOC2 NDUFS3 GNA11 HMGCL NSMCE2 BCKDHB MT-CO3 TCF4 IL10 CDC73 CYBC1 IL12A MT-CO1 NADK2 MST1 XPNPEP3 ALMS1 GNAS BCKDHA FCGR2A STAT4 PCCB AP2S1 NFS1 STUB1 IL12A-AS1 MT-TF PTPN22 SLC7A7 HLA-DPB1 MT-TQ TGFB1 PCCA AGPAT2 SEMA4D IKZF1 ERAP1 MT-TW ATP8B1 G6PC1 TKFC CIDEC CTLA4 CAV1 ACTG2 MT-ND4 DBT HP_ANNULAR_PANCREAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANNULAR_PANCREAS STRA6 RERE KCNAB2 SPEN TELO2 ASXL1 PRKCZ HSPG2 MYCN FANCD2 RECQL4 UBE4B SIK3 SETBP1 CASZ1 PRDM16 FOXF1 MMP23B RFX6 RARB FLI1 GABRD PDPN SKI LUZP1 HP_ACUTE_PANCREATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_PANCREATITIS CYBC1 BSCL2 HMGCL NSMCE2 APOE LMNA AGPAT2 HP_PANCREATIC_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_CYSTS TMEM107 TMEM67 NPHP3 TMEM216 TCTN1 B9D1 B9D2 TMEM231 PKD2 BICC1 VHL PKHD1 CSPP1 DZIP1L PKD1 OFD1 CC2D2A DNAJB11 TCTN2 XPNPEP3 TCTN3 WDR19 CCND1 MKS1 GANAB RBM8A TXNDC15 RPGRIP1 RPGRIP1L GLIS3 ALG9 TMEM237 CEP290 HP_PHIMOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHIMOSIS ERMARD CENPT FERMT1 PQBP1 DKC1 SETD2 APC2 NSD1 CTCF HP_NASAL_CONGESTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NASAL_CONGESTION SPEF2 DNAI2 CCDC39 CFAP221 DNAH1 ODAD2 RSPH4A DNAAF6 GJA1 DNAAF2 ODAD3 DNAH9 CARMIL2 RSPH9 FGFR1 MCIDAS DNAH11 DNAAF3 GNAS CCDC40 CCDC103 ARSL DNAAF4 TTC12 ANKH DNAAF1 GAS8 DNAJB13 CFAP300 RSPH1 DNAAF5 CCNO DRC1 CCDC65 FOXJ1 OFD1 SPAG1 ZMYND10 DNAI1 NME8 NEK10 ODAD1 DNAH5 ODAD4 RPGR RSPH3 DDC DNAAF11 CFAP298 LRRC56 HYDIN DNAL1 STK36 GAS2L2 HP_ABNORMALITY_OF_THE_SPLEEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SPLEEN TNFRSF13B PPARG RNU4ATAC A2ML1 RAG1 CCDC47 IFNGR1 GAA DPM1 RNASEH2A KRAS KLF1 DDRGK1 RAB23 DCDC2 SH2B3 FGA CBL STEAP3 ERCC8 BRAF MYRF CENPF FAS SPEN CTSA TET2 TPP2 ZEB2 SOS2 IFIH1 SAMHD1 AKT1 BACH2 SC5D RHCE LMNA SOS1 STAT3 HBB NGLY1 PHKG2 CCDC39 NRAS GLRX5 ZAP70 MKS1 PRKCZ DOLK PARN SHH MPL TMEM67 ZNF699 THPO RFWD3 MEG3 GPC3 RARB ARSB JAK2 IKZF3 BRCA1 GLIS3 PIK3CA SLC7A7 COG4 GAS8 MEGF8 B9D1 TGFB1 GUSB GBA GPD1 UROD PIK3C2A RRAS2 ERAP1 RNASEH2C LIPA OTC TPI1 CFAP410 COG5 GNS HLA-DRB1 ABCD3 DNAH5 NFKB1 CPOX SLC2A1 NFKB2 COMT GYPC SOCS1 EPB41 IL23R RSPH4A NEU1 FAT4 CD247 FAH DNAH9 FUCA1 F5 IL1RN CALR TCIRG1 TTC12 ITCH PTPN22 B9D2 RRAS ANK1 LYST USB1 CCDC65 FGFR1 PSMB9 CA2 CCDC115 CD27 IDUA RAG2 PLEKHM1 OSTM1 DGUOK HIRA LPIN2 PKLR MIF GLI2 PSMB8 PTPN2 TBX1 CC2D2A NPHP3 TP53 TMEM216 FGFR2 IL10 CCND1 HSPG2 RAC2 DHCR24 DZIP1L PSAP ODAD3 CLCN7 SMPD1 HAVCR2 DISP1 SMAD4 IL6 DNAAF3 CTLA4 KCNN3 SPTA1 RUNX1 TBXAS1 CLDN1 KCNN4 APOE DNAI1 RAB27A WT1 G6PC3 PDPN STIM1 IL2RA ASXL1 CEP290 NDUFS4 FGG GPC4 ATRX VPS45 NLRP3 MYD88 STRA6 RIT1 LCAT UBAC2 ODAD2 SLCO2A1 BCL6 ESCO2 KIT RAF1 CCDC32 ATP6AP1 SLC25A13 ICOS TCTN3 PIEZO1 CD81 PRF1 OCLN AKR1D1 ATM PTPRC HEXB C4A IDS ZIC3 ZIC2 PTEN HBG1 CCNO TNFSF11 DRC1 GATA1 CD19 CD70 NCF2 ALDOA SIX3 PEPD TLR4 RELN SPEF2 ATP8B1 CAV1 IL2RB FARSA DCLRE1C SCYL1 PNP UMPS MVK CFTR LUZP1 ATP7B GNE AP3B1 ALG1 FASLG ACVR2B PIGM RSPH1 NCF4 AIRE SLC4A1 TTC37 SF3B1 PSMB4 SPTB ITK ALG9 GBE1 HBA2 NME8 XK SCARB2 IL7R CASP8 RBM8A ODAD4 SP110 COG7 TMEM237 TMEM107 DNAH1 NCF1 RASGRP1 NODAL RIPK1 GCLC AP3D1 ABCG8 LPL MCM10 COX10 FGB LETM1 CASP10 CR2 DNAAF1 PHYH BMP2 PSMB10 HLA-B SAMD9 SPAG1 BTNL2 EXOC2 NCKAP1L ORAI1 APOC2 DNAL1 LACC1 HYLS1 HK1 GAS2L2 SKIV2L HBG2 GNPTAB PEX7 DNAAF6 TNFSF12 RHAG IL12A VPS33A UFD1 MRAS STX11 ABCB11 SNX10 LZTR1 WRAP53 UROS BCL2 CCDC40 FGF8 SGSH GP1BB STAT4 B2M HJV BPGM ADA OFD1 MMUT RMRP FAM111A TREX1 STK36 HMGA2 GALK1 FCHO1 CFAP221 RTL1 TERT TNFRSF11A MMP23B PKHD1 CCR1 MEFV HFE NHP2 PIK3R1 DNAJB13 TCTN1 CTNS MAN2B1 RPGRIP1L APOA1 HBA1 SUMF1 LAT SOX10 ABCB4 ODAD1 MCM4 NOTCH1 RSPH3 CYBB ABCA1 CDIN1 COG1 RERE EPB42 NPC1 RINT1 DKC1 FOXF1 ALMS1 DNAH11 FCGR2A CYP7B1 PALLD WDR1 FGFRL1 CPLX1 LBR TINF2 CASR GSN NPC2 SRSF2 ADAR RPGR PRKCD NEK8 TXNDC15 TALDO1 PSTPIP1 SLC39A4 XIAP SEC24C PTPN11 GDF1 CDKN2A BCR BRCA2 JMJD1C DNAAF2 MAGT1 IARS1 PHKA2 G6PD SEC23B SLC29A3 NOTCH2 DNAAF4 INPP5E ATP6V1B2 SLC30A10 NOD2 FMO3 CASK UBE4B STIL NEK10 SETBP1 RHD RPSA CYBA MNS1 NBEAL2 LRBA MMP21 WNT3 ABL1 LEMD3 MS4A1 HPGD CTSK TRPV6 ARVCF MYC CTC1 AGA KCNH1 LIG4 RREB1 ERCC6 COG2 ERBB3 LRRC56 PALB2 TMEM231 MYCN UNC13D INPPL1 KLRC4 TERC FOXP3 NSD2 HGSNAT GLB1 LYZ NLRP12 STXBP2 TRNT1 DNASE1L3 GALE GPR35 NLRP1 SNX14 CSPP1 NAGLU VPS13A SYK TNFRSF13C PDGFRA JAK3 ALPK1 TCF4 CYBC1 TWIST1 ANKRD55 NLRC4 TNFRSF1B NOP10 RNASEH2B CHD7 ADAMTS3 MPIG6B IL12A-AS1 ADA2 IFNG CD3E COG6 CD28 SEMA4D GPI NPM1 CD40LG DNAAF11 CFAP298 HYDIN CDAN1 CTBP1 ASAH1 BTD SAMD9L SH2D1A KIF3B PIK3CD SLC17A5 WDR35 MCIDAS DYNC2LI1 RPGRIP1 RABL3 COX4I2 KCNAB2 IFT172 CFAP300 JAK1 HSD3B7 FOXJ1 FERMT3 CARD11 CAVIN1 ZMYND10 GATA2 KPTN STAT1 BSCL2 IL2RG GPIHBP1 SKI PEX2 HSD17B4 DNAI2 CCBE1 GP1BA CDON ALAS2 HAMP PNPLA2 RTEL1 CASZ1 RSPH9 PRDM16 TNFRSF4 MST1 CCDC103 YARS1 MOGS AGPAT2 DNAAF5 RASA2 CFC1 TCTN2 CD3D PSMG2 GABRD DLK1 IRF8 TNFRSF1A HP_SPLENOMEGALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPLENOMEGALY TNFRSF13B SLC4A1 PPARG RAG1 RNU4ATAC FCHO1 HBB CCDC47 UROS IFNGR1 GAA PKLR RNASEH2A KRAS KLF1 TERT APOE DCDC2 SH2B3 TNFRSF11A PKHD1 CCR1 MEFV ERCC8 NCF2 FAS DCLRE1C HFE BRAF NHP2 PIK3R1 CTNS RPGRIP1L APOA1 HBA1 TPP2 ICOS AKT1 SUMF1 LAT BACH2 SOX10 ABCB4 LMNA GPC4 MCM4 NOTCH1 CYBB NGLY1 PHKG2 IL7R ABCA1 CDIN1 FAH GLRX5 GUSB ZAP70 MKS1 GBA EPB42 DOLK PARN NPC1 MPL TMEM67 RINT1 DKC1 ALMS1 THPO GPC3 IDUA STAT4 ARSB CYP7B1 JAK2 IKZF3 WDR1 GLIS3 PEPD PIK3CA SLC7A7 COG4 IFIH1 DPM1 TNFSF12 TINF2 CASR CR2 GPD1 CTLA4 UROD PIK3C2A NPC2 ERAP1 LIPA OTC TPI1 CFAP410 SRSF2 GNS HLA-DRB1 ABCD3 ADA PRKCD NFKB1 TALDO1 SLC39A4 XIAP CASP10 SEC24C CPOX NFKB2 BCR CLCN7 COMT GYPC SOCS1 EPB41 IL23R NEU1 JMJD1C MAGT1 FAT4 PHKA2 FUCA1 F5 IL1RN CALR G6PD SEC23B NOTCH2 INPP5E PRF1 SMPD1 ATP6V1B2 SLC30A10 ANK1 LYST USB1 NOD2 PSMB9 FMO3 CASK CCDC115 CD27 RAG2 OSTM1 DGUOK TGFB1 HIRA LPIN2 MIF PSMB8 CYBA DDRGK1 TBX1 GATA1 CC2D2A TP53 AKR1D1 TCIRG1 IL10 CCND1 DHCR24 DZIP1L NCF1 PSAP NBEAL2 LRBA HAVCR2 IL6 KCNN3 SLC29A3 ABL1 MS4A1 SPTA1 RUNX1 HPGD CTSK TRPV6 ARVCF CTC1 KCNN4 AGA KCNH1 PIEZO1 TBXAS1 CLDN1 LIG4 RREB1 ERCC6 RAB27A G6PC3 ERBB3 NDUFS4 NRAS ATRX VPS45 NLRP3 MYD88 LCAT UBAC2 SPTB SLCO2A1 BCL6 MVK KIT ATP6AP1 CD81 INPPL1 CA2 KLRC4 OCLN TERC FOXP3 ATM PTPRC HGSNAT C4A LYZ IDS ITCH PTEN HBG1 NLRP12 STXBP2 GLB1 TRNT1 DNASE1L3 GALE GPR35 TNFSF11 NLRP1 NAGLU VPS13A CD19 SNX10 SYK TNFRSF13C ALDOA PDGFRA TLR4 ASXL1 STEAP3 ATP8B1 ALPK1 CAV1 TCF4 CYBC1 STX11 IL2RB NLRC4 PNP UMPS TNFRSF1B NOP10 PLEKHM1 CHD7 ADAMTS3 MPIG6B IL12A-AS1 ADA2 IFNG ATP7B GNE COG6 CD28 AP3B1 ALG1 FASLG SEMA4D PIGM NCF4 TTC37 SF3B1 PSMB4 GPI NPM1 TET2 ITK HBA2 SCARB2 CASP8 CD40LG FGA COG7 CDAN1 GNPTAB ASAH1 BTD RASGRP1 SAMD9L RIPK1 SH2D1A AP3D1 ABCG8 PIK3CD UNC13D LPL SLC17A5 WDR35 COX10 DYNC2LI1 COX4I2 MAN2B1 PHYH BMP2 PSMB10 IFT172 SCYL1 HLA-B HSD3B7 FERMT3 CARD11 CAVIN1 BTNL2 GATA2 BSCL2 IL2RG GPIHBP1 APOC2 LACC1 HK1 PEX2 SKIV2L HSD17B4 HBG2 CCBE1 GP1BA PEX7 RHAG IL12A SLC2A1 ALAS2 HAMP UFD1 VPS33A PNPLA2 RTEL1 ABCB11 TNFRSF4 MST1 WRAP53 LBR BCL2 YARS1 SGSH GP1BB B2M HJV BPGM AGPAT2 PSMG2 MMUT RMRP TREX1 IRF8 TNFRSF1A HP_ACCESSORY_SPLEEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACCESSORY_SPLEEN CPLX1 TMEM107 TMEM67 MYRF TMEM216 CENPF CTBP1 TCTN1 B9D1 WT1 B9D2 MKS1 TMEM231 MYCN CSPP1 ESCO2 ATP6AP1 EXOC2 CC2D2A TCTN2 TCTN3 LETM1 NSD2 YARS1 TXNDC15 RPGRIP1 RPGRIP1L FGFRL1 HYLS1 TMEM237 CEP290 HP_POLYSPLENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYSPLENIA SPEF2 NPHP3 GPC4 RAB23 DNAI2 CCDC39 GDF1 CFAP221 DNAH1 CDON ODAD2 RSPH4A DNAAF6 MYCN DNAAF2 ODAD3 DNAH9 RSPH9 WDR35 MMP21 MCIDAS DNAH11 RFWD3 DNAAF3 GPC3 CCDC40 CCDC103 YARS1 DNAAF4 TTC12 ZIC3 DNAAF1 GAS8 DNAJB13 MEGF8 CFAP300 RSPH1 DNAAF5 CCNO DRC1 CCDC65 FOXJ1 OFD1 SPAG1 CFC1 ZMYND10 DNAI1 NME8 NEK10 ODAD1 DNAH5 ODAD4 RPGR RSPH3 DNAAF11 CFAP298 LRRC56 HYDIN DNAL1 STK36 GAS2L2 HP_SINGLE_VENTRICLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SINGLE_VENTRICLE ZIC3 GDF1 SIX3 STRA6 NSDHL NODAL HP_VESTIBULAR_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VESTIBULAR_DYSFUNCTION SDHD JAK2 SLC26A4 MYD88 UBAC2 CLCNKB VHL FLI1 IL23R SCN5A PTPN22 FOXI1 DKK1 GCGR ATXN3 TIMM8A TET2 CNNM2 DBH CACNB4 MYO7A ESPN EGF RYR1 NPPA MEFV CDH23 KCNJ10 MPL CCR1 KLRC4 NOP56 PCDH15 C4A ADA2 COCH FIP1L1 SH2B3 EPOR RYR2 USH1C PTPRQ FAS CASQ2 P4HA2 ZBTB16 CTNNB1 TMEM127 HLA-B KCNA1 NABP1 SDHB AIP SLC39A14 JAG1 CEP78 NF2 TRPM4 RARA KIF1B RET TPK1 SDHA GATA2 BCOR POLG NPM1 TLR4 HARS1 BRAF TWNK SH3TC2 CACNA1A GLA SCN1A GJB3 SDHC CACNA1G SLC1A3 GCDH IL10 CALM1 MEN1 IL12A THPO NAGA SCN2A MYO6 HLA-DRB1 NARS2 SLC12A3 TBL1XR1 DLST CCND1 CLRN1 RFC1 ALMS1 TECRL STAT5B GJB2 CALM3 STAT4 IL12A-AS1 GJB6 MVK CALM2 PRKAR1A SOX6 EPAS1 MAX OTOGL JUP FH TRDN FXN CIB2 GYG1 COL3A1 MYL2 DNMT3A SLC25A11 SCN1B ERAP1 ARSG SDHAF2 MT-TS2 CLIC5 USH1G NKX2-5 ATP1A2 NUMA1 PRRT2 STAT3 PML IRF2BP2 NF1 PDGFB TNFRSF1A MDH2 HP_VESTIBULAR_HYPOFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VESTIBULAR_HYPOFUNCTION USH1C OTOGL ESPN ARSG MT-TS2 MYO7A CIB2 CDH23 USH1G PCDH15 HARS1 CLRN1 CEP78 HP_HIGH_FREQUENCY_SENSORINEURAL_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_FREQUENCY_SENSORINEURAL_HEARING_IMPAIRMENT FGF3 ASAH1 LMNA FKBP14 CEP250 ZMPSTE24 HP_PES_CAVUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PES_CAVUS KLC2 MME MRE11 OPA1 KMT2E MPV17 CCDC32 NF1 WASHC5 PDK3 SEMA3A SLC18A3 TPM3 RTN2 PLP1 LITAF KIF5A PDHA1 NEFL GALC ANOS1 DNAJC6 HARS1 VAMP1 SPG11 FAR1 IDUA GCH1 WDFY3 SH3TC2 MPZ VPS41 VCP FGF14 PRPS1 COX6A1 MSTO1 GDAP1 MAP1B CHCHD10 ZFYVE26 IFRD1 ALDH18A1 PMP22 GRIA4 MYO9A FGF8 MECP2 CAV3 EZH2 MYH7 ACTL6B KCNMA1 ATL1 TDP1 ANO10 DYSF SLC25A46 HACD1 TACR3 HUWE1 GAN CCDC141 KIF1B BPTF CARS1 PYROXD1 PTPN23 UBR7 KBTBD13 GARS1 CYP7B1 POLG RSPRY1 PIGN TWNK SYNE1 SLC5A7 COL13A1 HSPD1 PQBP1 PLEKHG5 ATP1A3 SLC6A8 TPM2 WARS1 HPDL GBA SYT2 BCORL1 KDM4B PROK2 C19orf12 CAPN1 HESX1 PSMD12 SORD REEP2 VPS13A MMP2 SLC25A1 FBLN5 UBE2A KLHL41 OPA3 EGR2 AGO2 GJB1 SIGMAR1 IQSEC2 ITGA7 LRSAM1 AIFM1 JARID2 SPEG NEB PEX10 L1CAM GRIN2A PEX7 ZMIZ1 GBA2 HADHA WASF1 HSD17B4 FGD4 PMPCA AARS1 CHAT TTPA SACS CHP1 SETX PEX2 RAB7A FLRT3 ATP6V1B2 SVBP PDXK ACTA1 FHL1 TANC2 MYPN TSPOAP1 DNM1L MED27 RUSC2 CNOT3 MFN2 ATG7 KANSL1 PIK3CD B4GALNT1 REEP1 SPG7 TCF20 DNAJB2 KAT8 GJC2 TRAPPC11 XRCC4 RYR1 PRX USP9X KCNN3 ERCC5 DOCK3 HK1 ATP13A2 PEX5 BAG3 MTTP BSCL2 GNB4 KCNH1 UCHL1 SPTLC1 B3GLCT FEZF1 TRIM2 TRMT1 TRAPPC4 SATB1 FBXW11 SPRY4 MADD MYT1L DMXL2 REPS1 WDR73 NLRP3 HS6ST1 PNKP TRPV4 KNSTRN SPEN DHH NTNG1 ATP1A1 NFIX IDS PROKR2 MYL2 FBXO38 ERLIN2 FITM2 SLC12A2 UBAP1 ALS2 SPART HADHB INF2 CHD7 LBR DYNC1H1 MAFB TH NDRG1 SOX10 CPT1C VPS13D CUL4B WDR26 DUSP6 MORC2 HS2ST1 CHMP1A MAP3K7 NIPA1 ZBTB20 PUS7 FGF17 DCAF8 SBF2 KARS1 HSPB8 BIN1 RLIM ACTL6A FXN LONP1 APTX MAPK8IP3 TTN HINT1 COQ8A LAMP2 HDAC8 MED25 CYP27A1 GTF2E2 PALS1 FGFR1 RAB11B DDHD1 SPAST SYNJ1 DNM2 PCGF2 GJB2 SNAP25 IL17RD PCNA IFIH1 DCC FDX2 HSPB1 PHYH CTDP1 IBA57 AAAS KY TRIP12 AGRN FLRT1 FBN1 MTRFR LAS1L NEFH NSUN2 ABHD12 DPYSL5 COA7 NDNF SUZ12 DDX6 COASY MED13 WDR11 NTNG2 VWA1 LMNA SLC33A1 SELENON PMP2 FLNA ATP7A NSD1 HTT PODXL MAP3K20 TNRC6B NARS1 RET EED GMPPA HP_TALIPES_EQUINOVARUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TALIPES_EQUINOVARUS TCTN2 COL1A1 B3GALT6 SATB2 CCDC47 MYH3 COL12A1 TPM3 NDE1 BMPER AMMECR1 AP4E1 EBP MCTP2 GCH1 OTUD6B CRIPT SLC25A19 DHCR24 SOX9 SMOC1 SPTBN1 TP63 MAN2B1 RYR1 SMAD3 MTRFR B9D1 ZFYVE27 FLNB TRPV4 COG4 COG8 SC5D EZH2 PLXND1 GPC4 MEGF10 ALDH18A1 SYT1 CHST14 OTUD5 HACD1 GAN TRAIP GUSB CTBP1 COG1 TBX15 SLC35A2 GLI3 SNCA HSPG2 FAT4 NALCN PEX5 RINT1 STXBP1 ZNF699 ZSWIM6 GPC3 UNC80 MYH7 AP4M1 FGFRL1 MPZ CPLX1 TPM2 IRF6 COL1A2 MEGF8 HSPB1 ATRX COL3A1 TBX4 PITX1 MYLPF HNRNPK SLC26A2 MSX1 ITGA8 CEP55 COL5A2 FKBP14 ENTPD1 UBE2A NEK8 EVC2 CHN1 SHROOM4 ITGA7 SPEG SEC24C LMX1B COLQ L1CAM B3GAT3 SMAD6 COMT PIGB RAB3GAP2 DONSON PSAT1 JMJD1C DCHS1 ORC1 RECQL4 KDM5C TMTC3 FBXO7 DMPK HSD17B4 FGD4 KIAA1109 GRIA2 GSC NADSYN1 GDF5 HRAS SEC31A ATAD1 TOR1A FUZ MYPN TSPOAP1 SETD2 ECEL1 RUSC2 CANT1 DES PI4KA VANGL1 DPYS SETBP1 PLOD1 DHX16 HIRA EVC TGFB2 SCARF2 PIEZO2 FLNA COL6A1 LGI4 TBX1 ATP6V1A GPX4 MYMK PLEKHG5 POLR3GL KAT6B B4GALT7 RBM10 ALG8 ZC4H2 BMPR1B ADAT3 MED13L HK1 USP8 GLE1 KY PLOD2 CHRNG ARVCF LETM1 MTTP PMP22 KIDINS220 COL2A1 TRIM2 NEK9 LIMS2 LAMB2 RREB1 REV3L EDEM3 SMS CHRM3 NSD2 CTH GAD1 WDR73 ARHGAP31 MAFB ERCC5 MTMR2 PEX1 ERGIC1 EIF2S3 ALG14 FKBP10 MYL2 BCOR TNNT3 CHST3 NELFA BICD2 SNX14 APC2 BRPF1 MAPK1 TH SLC6A9 LIFR RSPO2 ZNF148 MUSK FOXG1 CHMP1A ACTA1 DYM TMCO1 MFSD2A SCYL1 IGHMBP2 AMER1 MYBPC1 SYNE1 SBF2 CC2D2A SH3PXD2B BIN1 NT5C2 COL6A3 SMARCA2 TGDS TAFAZZIN TTN ANK1 HBA2 TAF1 ALG12 NECTIN1 ORC6 RBM8A GTPBP2 PIGG TGFB3 C12orf57 RAB11B RAI1 RAB23 GNPTAB NDRG1 TWIST2 PRUNE1 ATP6V0A2 ARSI EHMT1 NSD1 IFIH1 WNT7A CCBE1 ALG3 DST STAC3 COQ8A CTDP1 ATP6V1E1 COL6A2 PEX26 DSE SAMD9 TNNI2 COL5A1 GZF1 EIF4A3 TGFBR1 MYH8 NKAP GDAP1 SALL4 HYLS1 PEX2 JPH1 SF3B4 AP4B1 SUZ12 HACE1 ADGRG6 TBC1D23 ALG9 UFD1 FIBP H1-4 SNRPN RIPK4 FBN2 HBA1 VWA1 SELENON EXOC6B TGFBR2 GP1BB KIF1A OFD1 IHH SKI DYNC2H1 CRLF1 POR PTRH2 MAP3K20 CTU2 PLOD3 EED AP4S1 MAP3K7 FKTN HP_PES_PLANUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PES_PLANUS ATR ATP7A TRPS1 COL1A1 FMR1 GTF2I IARS2 SCN9A FBN1 COL12A1 SEMA3A LMNA AMMECR1 METTL23 SCN1A GORAB ANOS1 BPTF COL1A2 AP4S1 SLC9A7 RPS6KA3 TGFB2 RAB33B DHX30 TBX4 STXBP1 FRMPD4 SMAD3 XYLT2 CHCHD10 GABRG2 PYCR1 ZEB2 ZNF469 PTCHD1 WASF1 VLDLR ARX TRPV4 MGAT2 FGF8 SLC16A2 CSGALNACT1 TBL2 RFWD3 HEY2 ERCC4 MYLK CWC27 FBXO11 TACR3 GAN CCDC141 ATP1A2 DMD PYROXD1 HSPG2 SYP GMPPB DLG3 RSPRY1 ALMS1 AHCY EXT2 MED12L ATP6V0A2 NCF1 GRIN2D PUF60 DNAJC30 ATP6V1B2 HNRNPK MAB21L2 PROKR2 DPH1 SALL1 PROK2 AEBP1 BCR HESX1 COL5A2 MMP2 FKBP14 TPM3 BCL7B IQSEC2 ACSL4 ZNF711 CNKSR2 SMAD4 TPM2 TBL1XR1 MID2 LMX1B B3GAT3 SCN2A PDE4D COL5A1 MAPRE2 SLC26A2 ATRX BRCA2 C12orf57 CEP152 TLK2 MYH11 RAB39B CDK10 GDF11 SIL1 NSD1 GDI1 ELN SLC29A3 ALG13 CUL7 EIF4H STAG2 PACS1 RIN2 MECP2 VPS13B RAB7A FLRT3 USP27X NONO ZDHHC9 FANCA HERC1 PEX6 ACTA2 SETD2 CANT1 BUD23 KAT6A RAI1 RYR1 PLOD1 KANSL1 TGFB1 SLC39A13 DACT1 MED12 CLDN3 HNRNPH2 SOX5 FLNA PMM2 DPAGT1 CLDN11 MYH7 FANCB AP4B1 SCO2 PHF8 CREBBP TCF4 TGFBR2 B4GALT7 UPF3B USP9X KCNN3 TONSL SKI FANCF SLC1A3 CLCN4 GARS1 PMPCA AP4M1 AGA KCNH1 UCHL1 FEZF1 FGD1 COPB1 TRMT1 TTN COL2A1 EIF5A EP300 BRCA1 TMEM270 SPRY4 RAD51C FIBP CNOT3 BRWD3 HS6ST1 ATP6AP2 GTF2IRD1 GDF6 DEAF1 FOXE3 SPEN FLII GATA4 ZNF41 PIGG SELENON EXOC6B IFITM5 STX1B ZNF81 TGFB3 ADGRV1 SLX4 ABL1 CHST3 AP4E1 AGTR2 UBE2A APC2 GABRD FTSJ1 PAK3 CHD7 METTL27 TGFBR1 MAPK1 NDRG1 SOX10 PIEZO2 SEC23A XYLT1 SH3TC2 ZNF148 DUSP6 XRCC2 FOXG1 GRIA3 SPRTN DYM MYPN FGF17 TMCO1 LOX DPM3 SLC10A7 HK1 SMARCA2 AFF3 FANCC RFC2 GABRA1 MFAP5 UBE2T CTSC ATP1A3 CCNK CRKL RAD51 TET3 SALL4 HDAC8 ALG2 MAD2L2 FGFR1 ALG14 ARHGEF6 CLIP2 SCN1B FANCE ABHD11 IL17RD NDUFAF6 WAC DCC FANCI LAT2 ATP6V1E1 STX1A RLIM ASXL3 B3GALT6 FANCL LAS1L SARS1 TSPAN7 BSCL2 LIMK1 PRDM5 BAZ1B MTOR SBF1 SMAD2 GDF5 STEEP1 NDNF PRKG1 TRIO IL1RAPL1 KDELR2 WDR11 SNRPN MAT2A HCN1 FLI1 GTF2IRD2 PCDH19 GFPT1 CACNA1A FKBP6 CRLF1 CHD8 CLDN4 FLNB VPS37D FANCG MLXIPL HCFC1 DLG4 BRIP1 FANCD2 FANCM PALB2 BGN CUL4B HP_HAMMERTOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAMMERTOE HSD17B4 MPV17 COA7 KIF1B VCP GARS1 PEX7 TRPV4 PMP22 BMPER DCAF8 NEFL BCOR SBF2 HARS1 AARS1 SACS CHP1 SYT2 MPZ PLEKHG5 RAB7A PHYH REEP1 BSCL2 CHCHD10 GNB4 PDXK TOR1A FBN1 DHCR7 MORC2 SPART AEBP1 INF2 MYH8 KAT6A GDAP1 NDRG1 EGR2 SLC35A3 SIGMAR1 PRX MFN2 SH3TC2 LRSAM1 HP_BROAD_FOOT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_FOOT PTH1R GPC4 NLRP3 FGD1 SUZ12 RPL10 PHF6 LMBR1 NSD1 PDE4D MSL3 GDF6 PHGDH SLC26A2 CCDC28B DYM B3GLCT ARL6 AIP BBS1 PSAT1 EZH2 MASP1 FGFR1 GPR101 AIFM1 TBL1XR1 EED GPC3 XYLT1 TONSL BMPR1B HP_TOE_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TOE_SYNDACTYLY CEP120 RPL10 LMBR1 DYNC2LI1 ZMIZ1 GPC4 HDAC8 SATB1 ARHGAP31 FGFR2 CCNQ EBP KIF7 RAI1 MYCN DEAF1 GLI3 MIR17HG PIK3CA WDR19 SC5D RAB23 BBS7 TRIO FLII IFT80 BCOR MCTP2 FBXW11 ZNF41 MRPS28 SLC9A7 SMOC1 ZNF81 TXNL4A SMC3 TELO2 SLX4 FRMPD4 ITGB4 TP63 BMP2 AGTR2 PTCHD1 SIN3A BMP4 NECTIN1 FBLN1 FREM2 UBE2A APC2 ARX FGFR3 FTSJ1 PAK3 CNOT2 SHMT2 CSGALNACT1 NXN NIPBL RFWD3 GJA1 NEDD4L ERCC4 CKAP2L SYT1 IRF6 MEIS2 PSMD12 CUL4B CLCF1 ATP6V1B2 GRIP1 XRCC2 KCNJ2 TBX15 SALL1 HOXD13 HDAC4 SLC12A2 TTI2 SHANK3 OTUD6B MAN1B1 SYP PORCN SIK3 SALL4 DLG3 SMO BMS1 ARCN1 RHOA ZNF699 CTCF ROR2 GPC3 ADNP DYNC2I1 EN1 WNT10B DYNC2I2 GNE MEGF8 FANCC CREBBP CERT1 FDFT1 TCTN3 PUF60 KCNJ5 SVBP APC UBE2T B3GLCT CRKL CEP55 RAD51 BCR CD96 CPLANE1 FLNA DMD MED25 IFT140 LRP4 PLEC IFT43 DDX6 IQSEC2 ACSL4 ZNF711 RAD21 IL11RA MAD2L2 CNKSR2 MID2 NOG TWIST2 SMAD4 FIG4 ARHGEF6 MEF2C BRCA2 FANCE RAB39B CDC45 BMPR1B FGFR1 EFNB1 GDI1 NECTIN4 NSD1 RPS6KA3 TBX22 HEPHL1 WNT7A ALG13 FANCI MECP2 USP27X TTC21B NSUN2 EP300 FANCA DLL4 DHCR7 SETD2 FANCL BRD4 SOX5 MYH8 SMC1A RIPK4 TSPAN7 MAPK1 NEK9 DACT1 MED12 TFAP2B SLC39A8 FRAS1 FGF10 SF3B4 PIGY ARL6IP6 SLC12A6 FANCB STEEP1 RBPJ POLR3A IFT172 DYNC2H1 LIG4 POLR3GL GDF5 IL1RAPL1 TBCK BHLHA9 UPF3B RALA FLI1 USP9X SETD5 STAG1 RBBP8 DDX11 FANCF CLCN4 DYRK1A TBR1 PHGDH FGF9 FANCG HCFC1 PDE6D BRCA1 KCTD1 TWIST1 BRIP1 FANCD2 FANCM PALB2 SHH SMARCAD1 RAD51C HP_ACHILLES_TENDON_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACHILLES_TENDON_CONTRACTURE ADAT3 FKTN SGCA ABHD12 HRAS NGLY1 SYNE2 KY EMD FKRP COL12A1 MYOT ACTA1 GJB1 BICD2 COL6A2 PYROXD1 LMNA OPA1 TMEM43 TTN ALS2 HINT1 MT-TE FHL1 SGCG PTRH2 SYNE1 LARGE1 CRPPA ZC4H2 PLEC POMT1 COL6A3 LMX1B NSUN2 COL6A1 HP_TALIPES_EQUINOVALGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TALIPES_EQUINOVALGUS GDF5 OTUD5 CLTCL1 B3GAT3 TNNT3 FLNB ESCO2 PTRH2 LMX1B CHST3 B4GALT7 HP_SHORT_FOOT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_FOOT SHOX CEP120 SIM1 DYNC2LI1 GPC4 HDAC8 SATB1 CCDC47 HERC2 ARL6 GABBR2 WDR19 STXBP1 IFT80 MMP23B RTL1 GDF5 DYNC2I1 SMC3 FGD1 SPEN TELO2 TBCE NOG DLK1 SNRPN CCDC28B UBE2A MBD5 DYNC2I2 PPM1D SPART CDKL5 MASP1 NDN BMPR1B NIPBL TUBB3 PIGL DYNC2H1 MAP3K7 CUL4B FBXO11 COL11A1 MAGEL2 KCNJ2 SATB2 HDAC4 USP7 RERE PRKCZ BMP2 BBS1 FGFR2 FGFR1 PIGN GPC3 MAPK8IP3 LUZP1 GJA1 HDAC6 KDM4B OCA2 HUWE1 CERT1 KCNJ5 MSL3 B3GLCT FBN1 FMR1 MECP2 COL3A1 INPPL1 TRPS1 IFT140 COL2A1 RAD21 PTH1R ADAMTSL2 CAMK2G SLC35C1 NGLY1 USP9X COG1 RECQL4 DYRK1A FBXL4 WDR35 CHSY1 WDR81 FAM50A NTNG1 KDM5C CCBE1 KCNAB2 TTC21B SON NSUN2 FGFR3 UBE4B BRD4 LAS1L SMC1A KIF5C BGN BPNT2 TBL1XR1 HTT SNORD116-1 SKI TRRAP IGF1R RNF2 LMBR1 IFT172 HSPG2 SLC26A2 SHROOM4 LIG4 TRIP11 CENPE CASZ1 PRDM16 PWRN1 MEG3 GALNT2 MKRN3 TONSL PWAR1 IHH NPAP1 GABRD PDPN LTBP3 SNORD115-1 WNT7A HP_BILATERAL_TALIPES_EQUINOVARUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_TALIPES_EQUINOVARUS RSPO2 CTU2 SNRPN MAN2B1 SATB2 UBE2A PIEZO2 MAPK1 PSAT1 SLC26A2 SH3PXD2B PITX1 EBP GDF5 SYT1 DHCR24 HP_ABNORMALITY_OF_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_TOE ATR RNU4ATAC LMBR1 DYNC2LI1 CCDC32 NRAS SATB1 CCDC47 GATAD2B DPM1 BMPER HNRNPK MIR17HG WDR19 RAB23 SVIL TCTN3 HARS1 WDFY3 MRPS28 MPZ PPP2R5D ARSL CEP41 DCPS SMOC1 TBX4 NAA10 SPEN ITGB4 CHCHD10 ZEB2 ACVR1 SIN3A EXT2 COG8 SC5D EZH2 GJA1 INPP5E KCNA1 CSGALNACT1 NXN LMNA KCNMA1 ERCC4 BHLHA9 TCTN1 CLCF1 AKT1 GRIP1 HUWE1 FIG4 TP63 KIF1B KCNJ2 CTBP1 MKS1 HOXD13 PRKCZ ACTB CDKL5 GLI3 DOLK OTUD6B SYP FLNA SIK3 SALL4 DLG3 ARCN1 RSPRY1 FGFR2 KIAA0753 GPC4 VAC14 ZNF699 DLEC1 CTCF ROR2 ZSWIM6 GPC3 MED12 NOD2 DYNC2I1 SIK1 PLEKHG5 PIK3CA GJA5 WNT10B COL1A2 NCF1 TMEM237 MEGF8 CREBBP CERT1 B9D1 FDFT1 BMPR1B PITX1 PMP22 SETBP1 AEBP1 B3GALT6 MTM1 CD96 UBE2A COL6A3 BCL7B GDAP1 PTEN SLC35A3 IQSEC2 ACSL4 ZNF711 GATA6 CNKSR2 JARID2 TBL1XR1 MID2 DMXL2 PPP1R21 B3GAT3 AHI1 COMT RAB3GAP2 PDE4D ZMIZ1 BRCA2 C12orf57 CDC45 CHSY1 KIAA1109 AARS1 GBA ELN SACS CHP1 RPS6KA3 HEPHL1 GLI1 EIF4H ABCA12 USP27X NONO B9D2 NEK1 SVBP PDXK SMARCA2 TOR1A TMEM94 TANC2 PPP2R1A MED27 GNAS BRD4 BUD23 MTX2 HOXA13 KAT6A FBN1 HIRA DLK1 PSMB8 DACT1 CLDN3 SLC39A8 ATN1 TBX1 SLC12A6 SETD5 TMEM216 ODC1 FANCB IGF1R NPR2 RBPJ HSPG2 DLL4 DSP POLR3GL FGFR3 CC2D2A PIGO RALA ERMARD KCNN3 PHF6 USP9X STAG1 DOCK3 EXTL3 CPT2 SUFU CLCN4 NOTCH1 FGF10 PHGDH KCNH1 BSCL2 INTS8 VPS13B PDE6D EIF5A TWIST2 BRCA1 TMEM270 GHR PDPN SMARCAD1 CEP290 RAD51C CEP120 GJB6 RPL10 HERC2 BMP2 SLCO2A1 PNKP FLNB TRPV4 POLR3A GDF6 ARMC9 DEAF1 NPHP3 ATRIP IFT80 BCOR ZNF41 TRIP12 PIGQ ITCH ZNF81 IFT43 SMC3 TNNT3 TELO2 SLX4 CHST3 NELFA CPLX1 TBCK BMP4 PRKAR1A FTSJ1 PAK3 MBD5 B4GALT7 CEP104 EVC TMEM67 METTL27 MAPK1 NDRG1 ARID1B PIGL CKAP2L SLC6A9 PRX PSMD12 SH3TC2 CUL4B ATP6V1B2 RAG1 HS2ST1 VCP FGFR1 TRAIP WDPCP PUS7 DCAF8 NEFL BMS1 SPECC1L PAPPA2 RAG2 CDC42 EN1 LUZP1 RLIM GNE ACTL6A RFC2 MAPK8IP3 WNT5A USP7 REEP1 KCNJ5 UBE2T B3GLCT SLC26A2 CRKL RAD51 ALG12 HRAS NOTCH2 CPLANE1 IFT140 DDX6 SLC25A22 PIGG TGFB3 IL11RA NKX2-5 RAB11B TMEM107 NOG PRKACB ALOX12B SMAD4 SLC35C1 ARHGEF6 COX7B CLIP2 ZMPSTE24 EBP SCN2A FANCE RHBDF2 ABHD11 MYH3 NSD1 LETM1 NEUROD2 FANCI COL3A1 NUP107 PHYH STX1A GJA8 CCDC22 TTC21B TPM2 COL12A1 EP300 TMEM260 DNMT3A FANCL SMARCE1 SOX5 MYH8 SMC1A BPNT2 KATNIP RIPK4 ASXL1 NEK9 OFD1 RNF6 EVC2 PYCR2 HYLS1 KRAS PIGY ABCC9 DPYSL5 STEEP1 COA7 SUZ12 PEX7 ARX IFT172 IHH ACAN DYNC2H1 UFD1 TRIO MED13 IL1RAPL1 WIPI2 DDX59 HSPB1 GALNT2 IFT57 SOD1 GTF2IRD2 GP1BB ESCO2 RBBP8 DYRK1A LZTFL1 ADA RETREG1 TMEM231 DOCK6 HSPB8 VPS37D RMRP TWIST1 CHST11 KCTD1 EED FANCD2 ATL3 WNT7A SHH KMT2E MPV17 RTL1 GTF2I HDAC8 KCNJ8 TBC1D2B INTS1 ARL6 MYCN TGFBR2 MMP23B BPTF MCTP2 SLC9A7 DCLRE1C FAM20C TXNL4A PTHLH FRMPD4 ZNF469 PTCHD1 NECTIN1 WASF1 FREM2 EFNB1 SUMF1 GRIA4 ARL13B CENPE MGP SLC16A2 PTH1R ACTL6B PIGP TBL2 RFWD3 FREM1 NEDD4L ZNF423 CBY1 ARL3 SYT1 MEIS2 ERF CWC27 FBXO11 OTUD5 IL7R MIA3 SATB2 TBX15 RERE SLC12A2 NSDHL PTPN23 SMS CASK MAN1B1 UBR7 PORCN BBS1 GARS1 SMO DVL1 PIGN ALMS1 ADNP RPGRIP1L FGFRL1 NKX2-6 LBR HPDL COL11A2 PUF60 DNAJC30 MORC2 MYLPF SALL1 BCORL1 KDM4B CEP55 HDAC4 BCR MMP2 DMD EGR2 AGO2 TXNDC15 TLL1 SIGMAR1 IFT52 RAD21 LRSAM1 CCNQ SEC24C KIAA0586 TRIM8 TMEM138 GMNN JMJD1C MEF2C RAB39B TCTN2 GDI1 NECTIN4 SLC29A3 SHOX PIGH EIF2AK3 GDF5 NIPBL ALG13 CIBAR1 MECP2 RAB7A COL2A1 NSUN2 FANCA FHL1 DHCR7 SETD2 UBE4B BBS2 CANT1 PLK4 CNOT3 PIBF1 SCARF2 TCF20 TFAP2B SCN9A MYOD1 TBC1D24 ARL6IP6 KIF7 KAT8 GPX4 ALOXE3 PHF8 KMT2A UPF3B SIAH1 FANCF MEG3 ERCC1 CSPP1 HPGD TBR1 CTSK CHRNG ARVCF GNB4 FGF9 TAF6 SRY LIG4 RREB1 TRMT1 TRAPPC4 COL6A2 FBXW11 STXBP1 COL6A1 CILK1 MADD NSD2 FIBP MYT1L ERLIN2 ARHGAP31 EOGT GTF2IRD1 RAI1 DLX5 MFN2 BBS7 NTNG1 FLII GATA4 TBX3 C2CD3 GCH1 TRMT10A PIGV RAB3GAP1 SCN1B AGTR2 CCDC28B FBLN1 APC2 SPART INF2 XYLT2 CNOT2 SHMT2 PIEZO2 XYLT1 IRF6 IRX5 GNAO1 XRCC2 TTI2 SHANK3 PCNT TMCO1 AMER1 PIGF SBF2 PPP1R15B RHOA CHD7 SOX9 KIAA0825 PLAA YY1 DYNC2I2 IFT122 FANCC KIF1A HBA2 APC FAM149B1 MED25 LRP4 PLEC MAD2L2 PALS1 NT5C2 LIFR SMARCD2 PCGF2 TCF12 SYT2 RPGRIP1 TBX22 ALG3 LAT2 KCNAB2 CEP152 WNK1 MLXIPL EIF4A3 TSPAN7 IL2RG LIMK1 NBAS SKI FRAS1 SF3B4 PRDM5 BAZ1B HSD17B4 ADAMTS2 IFT74 CASZ1 SNRPN PRDM16 NTNG2 HBA1 PTRH2 BBS9 JUP CENPJ LTBP4 FLI1 BMPR1A DDX11 LARS1 THOC6 MKKS FKBP6 CLDN4 HTT FANCG HCFC1 COX4I1 TNRC6B ASAH1 WWOX BRIP1 GABRD FANCM PALB2 HP_BROAD_METATARSAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_METATARSAL FGFR2 RAB33B CANT1 FBN1 PTH1R NPR2 FGFR1 NEK1 MMP2 ADAMTS10 ABCC9 PDE4D HP_ANKLE_SWELLING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANKLE_SWELLING VEGFC PTPN2 IL2RB MAFB IL2RA ANKRD55 FLT4 PTPN22 CD247 GJC2 STAT4 HP_NARROW_FOOT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_FOOT FBN1 SCARF2 TCF4 PQBP1 ADK HP_ABNORMAL_DELIVERY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DELIVERY TPM2 ITGA2B PTCD3 COL1A1 NEB ENPP1 GP1BA HOXA13 CYP11A1 SATB1 PTPN23 COL5A1 WRN ATP6V0A2 GPHN PEX1 ORC1 RTL1 ALB HBB BIN1 MPL MYH3 F13A1 SPTBN1 F8 SON FCGR3B ASXL3 SHPK F2 ACTA1 DHCR7 CD109 LMOD3 MGP ITGB3 RHCE MYF6 PLOD1 MCM4 RHD TPM3 SLC26A2 CRTAP ABCC6 RHAG KLHL41 ENG C11orf80 MKS1 POLR3A FGA RYR1 ADAMTS2 CYP11B1 MYPN JAK2 DNM2 THPO KDM3B ERGIC1 KBTBD13 F12 SYCP3 ZMPSTE24 CYP11B2 ZNF699 GP1BB FGB MEG3 ANXA5 HSPG2 LDHA CACNA1D COL1A2 CLN8 FGG OPA1 TAF1 SERPINC1 XIST KLHL40 SERPINH1 F13B COL5A2 LMNA ITGA2 MTMR14 REC114 HTR1A DLK1 F5 SERPINE1 LEMD2 HP_PREMATURE_RUPTURE_OF_MEMBRANES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_RUPTURE_OF_MEMBRANES PLOD1 COL5A1 ADAMTS2 ATP6V0A2 COL1A1 ZMPSTE24 COL5A2 LMNA SERPINH1 LEMD2 HP_HYDROPS_FETALIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYDROPS_FETALIS QRSL1 RPS28 CDAN1 RPS15A KIAA0586 ENPP1 PIGA RPL27 UROS ADA2 GYPC EPB41 FIG4 PKLR NEU1 ALPK3 RPL18 RASGRP1 FAT4 SOX18 TALDO1 WDR35 COL2A1 SLC17A5 MCM10 FLT4 BSND ALG8 MMACHC KIF20A RPL35 CASP10 FOXF1 MECOM RPL35A FAS GLB1 DYNC2I1 GATA1 HADHA CTSA NEK1 IFT80 HBA1 FLNB RPL15 TSR2 RPS19 GBA KLF1 AGGF1 DYNC2I2 MGAT2 RPS7 COL1A1 PTH1R CARS2 PIEZO1 RPS27 NR1H4 DYNC2H1 EPHB4 SLC26A2 RPL11 ABCC6 NDUFB10 COL11A1 COL1A2 GUSB CCBE1 ALG9 GATB RPS20 TRIP11 RPL5 RPL31 VAC14 RASA1 PLD1 WNT7A AHCY TAPT1 GATC ADAMTS3 RYR1 HSPG2 RPS29 PRKCD LBR RPS10 RPS26 PMM2 ALG1 CALCRL TRIM37 RPL26 SPTA1 GRIP1 UROD FASLG NSF SPTB GBE1 NEK9 HBA2 ASAH1 RPS17 RPS24 HADHB HP_NONIMMUNE_HYDROPS_FETALIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NONIMMUNE_HYDROPS_FETALIS QRSL1 RPS28 RPL11 NDUFB10 RPS15A RPL27 COL1A2 UROS ADA2 PKLR RPL18 GATB RPS20 SOX18 RPL5 MCM10 GATA1 RPL31 FLT4 RPL35 RASA1 FOXF1 RPL35A GATC RPS29 LBR RPS10 RPS26 PMM2 ALG1 CTSA CALCRL RPL26 RPL15 UROD TSR2 RPS19 RPS7 EPHB4 COL1A1 CARS2 PIEZO1 RPS17 RPS27 NR1H4 RPS24 GBA HP_SMALL_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_NAIL GPC4 GTF2I SLC35D1 WDR73 PIGA ARHGAP31 RBPJ KCNH1 PIGL EOGT GTF2IRD1 POLR3A BMPER INPPL1 GJB6 DYNC2LI1 RTL1 SLC25A24 SPEN CDH1 DNAJC21 MCTP2 MBTPS2 PIGV TSPAN7 PPP2R5D KDM1A SMARCAD1 TELO2 CDKN1C GJB2 APC2 PPM1D PIGY EZH2 DPF2 PLAGL1 FTO EED EVC TP63 METTL27 TBL2 SHANK3 ARID1B SHOX SMARCB1 CWC27 PLEC MSX1 OTUD5 ATP6V1B2 PIGN COL11A1 CDIN1 PLAG1 PIGF DOCK6 FGFR1 MEG3 GPC3 TFAP2A LBR IKBKG NCF1 HUWE1 POP1 RFC2 HYMAI PIGW SMARCC2 KIF15 DNAJC30 TBX4 DPH1 WNT10A SMARCD1 COL7A1 FGFR2 BCL7B ARID1A PGAP3 POC1A ADAMTSL2 SOX4 BICRA ARID2 RERE DHX37 HOXA13 IHH ALOX12B NOP10 PIGB SHOC2 SOX11 CLIP2 ACTL6B EVC2 ABHD11 ERCC2 PGAP2 NSD1 CKAP2L NECTIN4 NHP2 ELN SMARCE1 IGF2 HEPHL1 RSPO1 GLI1 EIF4H ALG3 LAT2 CENPT HMGA2 STX1A GDF5 NSUN2 NEPRO RLIM ROR2 DLL4 AFF4 SETD2 SMARCA4 MLXIPL BHLHA9 BUD23 MTX2 CCDC22 HRAS RIPK4 LIMK1 PPP1CB CLDN3 TRRAP MPLKIP BAZ1B PTDSS1 ODC1 ALOXE3 SUZ12 PIGO TBX3 LIG4 STAMBP KCNN3 SIAH1 ZNF462 GTF2IRD2 ALG12 OFD1 CPT2 NOTCH1 TBC1D24 FKBP6 CLDN4 VPS37D COL11A2 EIF5A RPS6KA3 WASHC5 TMEM270 TCTN3 DLK1 RAF1 HP_HYPERCONVEX_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERCONVEX_NAIL RNU4ATAC CPLX1 PLEC GJB6 PTDSS1 POMP CTBP1 RPS6KA3 LETM1 SETBP1 ECE1 MBTPS2 ARX NSD2 PIGV FGFRL1 TP63 ORC1 HP_ANONYCHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANONYCHIA TBC1D24 PLEC LAMC2 ARHGAP31 DMXL2 LMX1B ATP6V1B2 GNAO1 COL7A1 ITGB4 RBPJ KCNH1 TRIM8 RSPO4 EOGT ATP2A2 CDKL5 DLL4 CASK DSP COL17A1 ARX SLC25A24 SCN2A WNT10A LAMA3 GPC4 PIGF NOG RIPK4 LAMB3 KCNN3 JUP PIGQ NEUROD2 ITGA6 WNT7A SIK1 GRHL2 PNKP LBR NOTCH1 MMP1 SCN1B ZBTB20 ROR2 ACTG2 APC KRT14 DOCK6 TP63 PORCN CRKL BCR KCNA1 MAPK1 PIGP ARID1B LRP4 STXBP1 SLC25A22 ARID1A HP_SHORT_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_NAIL NPR2 IFT122 ZMPSTE24 IFT43 DPYD LMNA NOTCH2 FLNB ATP6V0A2 B3GALT6 HP_HYPOPLASTIC_TOENAILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_TOENAILS SMARCB1 BAZ1B SOX4 ARID2 GTF2I SLC35D1 ODC1 HOXA13 COL11A1 SUZ12 DPF2 GTF2IRD1 SHOC2 SOX11 TBX3 EVC2 CLIP2 SHANK3 INPPL1 GJB6 DYNC2LI1 EVC LIG4 ABHD11 EOGT PIGF FGFR1 NECTIN4 ELN ARID1B KDM1A SMARCE1 GTF2IRD2 PPP2R5D GLI1 EIF4H LAT2 CPT2 STX1A NCF1 TBC1D24 RFC2 TELO2 FKBP6 NSD1 NSUN2 SMARCC2 DLL4 CLDN4 AFF4 DNAJC30 TBX4 GJB2 VPS37D ATP6V1B2 MLXIPL DPH1 SMARCA4 SMARCD1 BUD23 MSX1 EZH2 EIF5A HRAS RIPK4 TMEM270 TCTN3 EED METTL27 BCL7B TBL2 LIMK1 PPP1CB CLDN3 ARID1A HP_ABSENT_TOENAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_TOENAIL CRKL GPC4 LBR PIGF BCR KCNN3 COL7A1 KCNH1 DSP JUP MAPK1 APC KRT14 LRP4 ATP6V1B2 WNT7A ARID1A PORCN HP_NAIL_PITS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NAIL_PITS FOXN1 MSX1 LPAR6 TP63 HLA-C TINF2 TERC TERT IKBKG HP_HYPOPLASTIC_FINGERNAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_FINGERNAIL SMARCB1 PLEC PTDSS1 ARHGAP31 SOX4 ARID2 PIGN COL11A1 RBPJ KCNH1 EOGT PLAG1 DLL4 BMPER GJB6 PIGF PIGO ARID1B MBTPS2 SMARCE1 ZNF462 KCNN3 IGF2 TFAP2A LBR CENPT NOTCH1 HMGA2 IKBKG TBC1D24 HYMAI ATP6V1B2 SMARCC2 ROR2 CDKN1C DOCK6 GJB2 SMARCA4 SMARCD1 COL11A2 MTX2 MSX1 CCDC22 DPF2 PLAGL1 RPS6KA3 WASHC5 FGFR2 SOX11 ARID1A SHOX HP_ONYCHOGRYPOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ONYCHOGRYPOSIS ADAM17 GJB6 KRT6A KRT14 SLURP1 KRT5 INSR COL7A1 EGFR KRT6B DVL1 WNT5A DVL3 CTSC IKBKG FZD6 PLEC FZD2 KRT16 TP63 KLHL24 KRT17 ZSWIM6 LORICRIN HP_ONYCHOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ONYCHOLYSIS JUP GJB6 WNT10A KRT74 HLA-C COL7A1 UROD CAST HFE LAMA3 IFIH1 ITGA3 KRT85 CDSN DSG1 FZD6 HP_RIDGED_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIDGED_NAIL FOXN1 MSX1 LPAR6 LMX1B CTSK DKC1 ATP2A2 ATR KRT14 TINF2 TERC MPLKIP IKBKG GTF2E2 WNT10A TARS1 FERMT1 ERCC3 SLC39A4 EFNB1 KRT5 RNF113A GTF2H5 ERCC2 TERT HP_FRAGILE_NAILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRAGILE_NAILS ITGB4 LAMC2 GJB6 HRAS SIN3A COL17A1 AP1B1 GJA1 CAMK2G DLX3 COL7A1 LMNA ATP6V0A2 SMARCD2 DSP MPLKIP GTF2E2 ERCC2 SLURP1 PRKD1 TARS1 MSX1 KRT14 SIN3B LAMB3 ERCC3 EFNB1 TRPS1 RNF113A LAMA3 FTL GTF2H5 HEPHL1 HP_SPLIT_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPLIT_NAIL GTF2H5 TARS1 ERCC2 DKC1 ERCC3 EFNB1 MPLKIP RNF113A GTF2E2 HP_DYSTROPHIC_TOENAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSTROPHIC_TOENAIL RAB7A IKBKG KRT74 COL7A1 KRT14 SCN9A GJB2 KIF1A TP63 GJB6 WNT10A SMARCE1 PERP NECTIN1 RETREG1 ITGB4 KLHL24 COL17A1 ZMPSTE24 NOTCH1 RUNX2 LMNA WNK1 HP_HYPERCONVEX_FINGERNAILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERCONVEX_FINGERNAILS MBTPS2 CPLX1 PLEC PTDSS1 NSD2 CTBP1 FGFRL1 RPS6KA3 TP63 LETM1 HP_DEEP_SET_NAILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEEP_SET_NAILS HRAS EZH2 SUZ12 NSD1 EED HP_THIN_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIN_NAIL WNT10A HRAS TRPS1 IFT122 MSX1 EZH2 ALOX12B ALOXE3 EED SUZ12 NSD1 MBTPS2 ANAPC1 FZD6 HP_ABSENT_FINGERNAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_FINGERNAIL PNKP TBC1D24 ARHGAP31 NOTCH1 DMXL2 GNAO1 COL7A1 ATP6V1B2 RBPJ SCN1B TRIM8 NOG EOGT CDKL5 APC KCNH1 DOCK6 DLL4 CASK DSP ARX SCN2A PORCN CRKL BCR KCNA1 JUP MAPK1 PIGQ PIGP NEUROD2 KCNN3 LRP4 STXBP1 SLC25A22 ARID1A SIK1 HP_PARONYCHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARONYCHIA SLC39A4 LAMB3 STAT3 KRT16 RETREG1 KIF1A KRT17 KRT6B BLM LAMC2 WNK1 LAMA3 ADAM17 SCN9A KRT6A HP_LEUKONYCHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEUKONYCHIA KANK2 PLCD1 PEX1 TRPS1 GJB2 CAST DSC3 ATP2A2 KIF11 PEX6 DSP ABCA12 GJA1 HP_BROAD_NAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_NAIL TRAF3IP2 FHL1 IKBKG IHH IFT43 IL17RC IL17F IL17RA CLEC7A HP_HALLUX_VALGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HALLUX_VALGUS SF3B4 ERF CWC27 PRDM5 BAZ1B ZMIZ1 AKT1 GTF2I B3GALT6 B3GAT3 MYH3 TP63 GTF2IRD1 CLIP2 ELN GDF5 ABHD11 PTEN CDKL5 COL1A2 BMPR1B TCF12 GBA SLC29A3 ERMARD USP9X GTF2IRD2 FGFR3 KCNN3 AEBP1 RBBP8 EIF4H ITCH NONO YY1 LAT2 NUP107 DYRK1A STX1A NCF1 ACVR1 RFC2 ATP6V1B2 FKBP6 USP7 CHST3 ZEB2 CLDN4 ZNF469 BMP2 DNAJC30 FHL1 KCNH1 VPS37D SRY MLXIPL TWIST1 SLC16A2 BUD23 CHST11 TMEM270 HOXD13 METTL27 BCL7B FGFR2 TBL2 SCARF2 PSMB8 LIMK1 CLDN3 ATL3 IL11RA HP_WEIGHT_LOSS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEIGHT_LOSS SDHD JPH3 BMPR1A HTT PANK2 MLH1 TSHR UBAC2 HLA-DPA1 FLI1 IFNGR1 TPM3 KCNJ18 PTPN22 BCL6 NDUFAF6 SCNN1G KIT RBBP8 CDKN2B VHL KRAS SLC9A6 SDHC ERBB2 ATRIP GATA4 NDP CRLF1 SIGMAR1 SLC6A8 TP53 MEFV CCR1 RET PRNP KLRC4 FOXP3 ATM CBL CUBN CHEK2 GDNF C4A PKHD1 FIP1L1 MYL2 HFE ERCC2 PIK3CA TGFBR2 FAS EIF4G1 P4HA2 SRSF2 SLX4 EWSR1 PMS2 TRIM28 TMEM127 NABP1 SDHB GPR35 SCNN1B MLH3 CENPE RARA VPS13A CACNA1S ECE1 MSH2 GBA JAK2 SYK BCOR GIPC1 SPG11 TLR4 RFWD3 MLX ASXL1 SCNN1A GIGYF2 ERCC4 SLC34A1 CUL4B GJB3 ERCC3 GABRA3 AKT1 HACD1 HLA-B XRCC2 SEMA3C ACTA1 TCF4 MPL SLC34A2 ANKRD55 GALC TRAIP PCNT SEMA4A ATRX HSPG2 AVP STAT6 HLA-DRB1 MAFB PTEN NOD2 RPS20 CDH23 WT1 MC2R TBL1XR1 DLST SLC39A4 ATR STAR ZMPSTE24 UNC80 POLG STAT4 PALLD AK2 COL4A6 IL12A-AS1 BRCA1 TTR LMNA HLA-DQB1 HAVCR2 ATP7B TYMP MAX TPM2 DNAJC13 MRAP HLA-DPB1 FANCC ACADM BTK RB1 SEMA4D COL4A5 TET2 GATM IKZF1 UBE2T DNMT3A ERAP1 LIPA RAD51 CFTR POU6F2 MECP2 NOS1 NUMA1 PML IRF2BP2 NNT CD247 RNF168 SLC5A1 MAD2L2 SNCA ITGA7 MDH2 TRIM37 RRM2B ERCC5 GNPTAB PRTN3 CDKN2A NFKBIL1 BRCA2 IL23R EDNRB GJB4 IL6 NAB2 ERBB3 FANCE RHBDF2 CALR CNTNAP1 BIRC3 F5 CDKN1B DCTN1 SDHAF1 DAXX CD244 CIITA IL2RB GCK IL2RA RABL3 CYP24A1 MSH6 HLA-DQA1 FANCI TXNRD2 IL10 SEMA3D NBN GJA1 RUNX1 TRIP13 ZBTB16 BTNL2 NRTN FANCA CEP152 KCNJ11 HLCS SUCLA2 PDX1 FANCL IL12B KIF1B ABCD1 STAT3 EPCAM GATA2 PLK4 TGFB1 NPM1 LPIN2 STUB1 EDN3 PTPN2 PIK3R1 SLC11A1 HMGCL SLC22A4 MALT1 FANCB KRT1 CCND1 BAP1 IL12A SMO NALCN EHHADH PMS1 THPO KRT10 INS MST1 ALS2 SMAD4 CDC73 STAT5B BCL2 SLC2A3 CENPJ SELENON REST FAN1 H19 VPS35 PRKAR1A FOXP1 EPAS1 SDHA FANCF FH ATP7A SREBF1 CDKN2C TRPV4 AMN MEN1 UNC45A CDKN1A DIS3L2 LRRK2 FANCG SLC25A11 ABCC8 MAP3K20 SDHAF2 GPC3 CTLA4 PSAP ACAT1 BRIP1 FANCD2 BCL10 KDSR FUS FANCM PALB2 NF1 LRP12 RAD51C HP_POSTAXIAL_FOOT_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTAXIAL_FOOT_POLYDACTYLY CEP120 TMEM107 DYNC2LI1 TMEM216 OTUD5 INPP5E PRKACB MKS1 TMEM231 SMOC1 IFT172 KIF7 DYNC2H1 DDX59 GLI3 IFT74 NPHP3 WDR19 SC5D CC2D2A IFT80 TCTN3 BBS9 C2CD3 DHCR7 RPGRIP1 KIAA0825 SETD5 RPGRIP1L DYNC2I1 CIBAR1 EXTL3 PLAA LBR TMEM67 DYNC2I2 TCTN1 CD96 LZTFL1 MKKS TTC21B B9D1 BMP4 B9D2 NEK1 HOXD13 CSPP1 BBS2 TCTN2 PDE6D EVC LMBR1 TXNDC15 IFT140 EVC2 TMEM237 CEP290 HP_ABNORMAL_METATARSAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_METATARSAL_MORPHOLOGY SMARCA2 PRG4 HOXA13 TRPS1 CTBP1 PDE4D B3GAT3 SIL1 FGFR2 POMT2 LMBR1 RAB3GAP2 PTHLH SLC26A2 FKRP PEX1 RTL1 PIK3CD RAB23 GNAS FGFR1 LETM1 KIF22 IL2RB NSD2 IL2RA SHOX IFIH1 HEPHL1 WNT7A PRMT7 COL4A1 FLNA POMK RAB33B PHYH DAG1 VPS13B GDF5 PTPN22 ACVR1 TNNT3 COL2A1 LARGE1 FKTN CHST3 ABCC9 NSUN2 CRPPA PRKAR1A FBN1 PEX7 B3GALT6 DHCR7 FLNB FBLN1 TNNI2 COG4 PORCN CANT1 PTH1R MYH8 CHSY1 EZH2 HOXD13 MAPK1 MAFB TUBB3 PEX2 PTPN2 WDR26 AKT1 NPR2 TCF4 B3GALNT2 LMNB2 TRPV4 FIG4 GUSB RBPJ SALL1 MAP3K7 IHH ANKRD55 SLC35A2 GLI3 UBE3B ZBTB20 DYM DHCR24 LIG4 HSPG2 FAT4 PTEN PEX5 FIBP FBN2 RSPRY1 DDR2 NEK1 ADAMTS10 PIGS VAC14 MEG3 BMPR1B SH3PXD2B POMGNT1 POMGNT2 FGFRL1 TP63 TGDS STAT4 SKI CPLX1 DCHS1 VPS35L LZTFL1 POR ERCC6 PIEZO2 POMT1 FGF9 B3GLCT SRY KNSTRN HINT1 RIPK4 HDAC4 LRP5 INPP5K MMP2 KCNJ2 RXYLT1 TWIST1 DLK1 B4GAT1 IFT52 CD247 POC1A HP_LONG_FOOT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_FOOT FIBP PACS1 NF1 AGPAT2 UBE3B MEN1 PDGFRB RPS6KA3 INSR POLR3A SIM1 HERC1 AIP PIGL RNU4ATAC FLNA FOS NSD1 EED SETD2 SUZ12 BSCL2 ASNS PPARG CAV1 UPF3B CAVIN1 HP_CAMPTODACTYLY_OF_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAMPTODACTYLY_OF_TOE BCOR MMP2 DSP CHRNG PHF6 JUP PIEZO2 FHL1 SCARF2 FGFR3 PPP2R5D MYLPF GLI3 FLNA HP_BROAD_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_TOE PALS1 JARID2 NKX2-5 USP9X MYT1L KMT2E ZMIZ1 CCDC32 FGFR2 KCNH1 PDE4D EBP GLI3 DLX5 WASF1 GPC4 ROR2 NTNG1 BMPR1B FGFR1 EFNB1 BPTF C2CD3 WDFY3 FLNA BCOR NAA10 GJA8 CCDC22 TNNT3 COL2A1 TRIP12 CREBBP ABCC9 TBCK SLC12A2 SVBP ZEB2 BMP2 TANC2 PPP2R1A MED27 UBE2A SUMF1 GRIA4 SMC1A TBX1 CNOT3 ACTL6B KCNMA1 EP300 TCF20 PYCR2 MEIS2 SF3B4 HUWE1 KAT8 DPYSL5 NPR2 HS2ST1 SATB2 ACAN WDPCP PUS7 DDX6 PTPN23 TWIST1 MED13 UBR7 GDF5 DVL1 KIAA0753 NEK1 NTNG2 RHOA PIGO GPC3 SIAH1 ADNP MED12 FGFR3 DOCK3 GJA5 NKX2-6 RLIM IFT122 ACTL6A FGF10 MAPK8IP3 WNT5A HPDL PUF60 HOXD13 FGF9 TAF6 HTT PIGL BCORL1 KDM4B TNRC6B PSMD12 TRMT1 CHST11 TRAPPC4 SATB1 FBXW11 AGO2 NOG MADD GATA6 HP_SPLIT_FOOT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPLIT_FOOT FGFR2 TP63 DLX5 GLI3 PORCN WNT10B HP_METATARSUS_ADDUCTUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METATARSUS_ADDUCTUS SKI CPLX1 WDR26 CTBP1 LMNB2 B3GAT3 FIG4 TNNT3 GUSB CHST3 NSUN2 RAB3GAP2 PIEZO2 SLC35A2 FBN1 GLI3 UBE3B ZBTB20 B3GALT6 DHCR7 DHCR24 PEX1 RTL1 LIG4 SLC26A2 TNNI2 PEX5 FIBP RAB23 FBN2 DDR2 MYH8 VAC14 EZH2 LETM1 MEG3 MAPK1 NSD2 TUBB3 SH3PXD2B TRPV4 DLK1 FGFRL1 PEX2 HP_PREAXIAL_FOOT_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREAXIAL_FOOT_POLYDACTYLY CPLX1 GLI3 RAB23 FGFR2 CTBP1 MEGF8 NEK1 LMBR1 CPLANE1 LETM1 ZSWIM6 HOXD13 NSD2 KIF7 PITX1 FGFRL1 HP_FOOT_ACROOSTEOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOOT_ACROOSTEOLYSIS ZMPSTE24 COL3A1 MTX2 RETREG1 LMNA NOTCH2 KIF1A SCN9A WNK1 HP_ABNORMALITY_OF_THE_HALLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_HALLUX NSD2 FIBP MYT1L KMT2E HOXA13 ZMIZ1 CCDC32 GTF2I B3GALT6 KCNJ8 FGFR2 MYH3 KCNH1 GTF2IRD1 KIF7 DPM1 GLI3 DLX5 MFN2 GPC4 RAB23 NTNG1 GATA4 BPTF C2CD3 GCH1 WDFY3 ITCH BCOR NAA10 FAM20C PTHLH TNNT3 CHST3 NELFA SLC12A2 PRKAR1A ZEB2 ZNF469 BMP2 ACVR1 EFNB1 UBE2A SUMF1 GRIA4 MGP SLC16A2 PTH1R TBX1 NXN ACTL6B METTL27 KCNMA1 TBL2 EP300 GJA1 MEIS2 BHLHA9 ERF CWC27 FLNA AKT1 HUWE1 FIG4 HS2ST1 CTBP1 SATB2 ACTB FGFR1 WDPCP PUS7 PTPN23 UBR7 PTEN CDKL5 SALL4 COL1A2 KIAA0753 NEK1 VAC14 RHOA CTCF ROR2 ZSWIM6 ADNP MED12 FGFR3 FGFRL1 NONO GJA5 NKX2-6 CPLX1 RLIM YY1 IFT122 GNE NCF1 MEGF8 ACTL6A CREBBP RFC2 MAPK8IP3 HPDL USP7 PUF60 HOXD13 DNAJC30 DYRK1A PITX1 SALL1 PPP2R1A BCORL1 KDM4B AEBP1 PSMD12 LMBR1 CPLANE1 BCL7B AGO2 PIGG IL11RA GATA6 PALS1 JARID2 NKX2-5 USP9X B3GAT3 PDE4D TP63 CLIP2 EBP WASF1 ABHD11 CHSY1 BMPR1B TCF12 GBA LETM1 ELN SLC29A3 GDF5 EIF4H LAT2 NUP107 STX1A GJA8 CCDC22 COL2A1 ATP6V1B2 TRIP12 ABCC9 SVBP FHL1 TANC2 MED27 MLXIPL CANT1 BUD23 SMC1A KAT6A CNOT3 SCARF2 PSMB8 DACT1 LIMK1 TCF20 CLDN3 SOX5 PYCR2 HYLS1 SF3B4 PRDM5 BAZ1B NPR2 KAT8 DPYSL5 IHH ACAN DDX6 TWIST1 MED13 POLR3GL HSPB1 NOG KCNN3 NTNG2 PTRH2 PIGO SIAH1 ERMARD FLI1 GTF2IRD2 RBBP8 DOCK3 TBR1 FGF10 FKBP6 CLDN4 FGF9 TAF6 HSPB8 HTT VPS37D SRY TNRC6B TRMT1 CHST11 TMEM270 TRAPPC4 SATB1 FBXW11 SMS ATL3 MADD HP_OVERLAPPING_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERLAPPING_TOE SF3B4 RAB11B CDC42 RTL1 PPP1R21 CCDC47 SMAD4 PIEZO2 SLC35C1 ARX EBP GDF6 INTS1 OTUD6B TMCO1 HNRNPK WIPI2 PCGF2 SNRPN RSPRY1 KIAA1109 BPTF SOD1 RAB3GAP2 USP9X EXT2 RAB3GAP1 MEG3 KAT8 NEK9 THOC6 GLI3 HUWE1 CCDC22 CREBBP TELO2 TPM2 CPLX1 EP300 PUF60 TMEM94 DHCR7 TMEM260 INTS8 SETBP1 EZH2 ASXL1 UBE2A MAPK1 DLK1 MED25 DDX6 SOX5 ATN1 SLC6A9 MYOD1 HP_LONG_HALLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_HALLUX FIBP FAM20C PTH1R NPR2 GNE KCNN3 KCNH1 PRKAR1A ZEB2 SCARF2 FLI1 SMS DPM1 SOX5 POLR3GL HP_FOOT_OLIGODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOOT_OLIGODACTYLY SF3B4 SMOC1 DLL4 APC WNT7A GLI3 LRP4 DLX5 PORCN WNT10B HP_ABNORMALITY_OF_THE_TARSAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_TARSAL_BONES GDF5 SMPD4 HOXA13 NOG SLC35D1 SCYL2 FGFR2 LMBR1 SMOC1 ATP6AP2 LMNA GDF6 WRN ERCC5 HADHA INPPL1 PEX1 BMPR1B RTL1 POR FLNA TNNT3 DOK7 OFD1 CHSY1 TPM2 FGFR1 MYH3 OBSL1 SLC2A10 COL1A2 ATP7A EIF2AK3 MATN3 NUP88 TBX4 TELO2 CCDC8 KANSL1 ZEB2 TOR1A SAMD9 FBN1 FGFR3 FLNB FBLN1 TNNI2 ECEL1 COL11A2 HADHB PSAT1 CANT1 PTH1R NUP188 NALCN EZH2 MAFB MAGEL2 KIF14 MAP3K7 SYT1 ADAMTSL1 RELN MMP14 MUSK NGLY1 OTUD5 GPX4 CLTCL1 FIG4 SATB2 GLI3 DYM PLAA MAF EXT1 EMG1 ERGIC1 MYBPC1 RSPRY1 ZMPSTE24 EXOC7 VAC14 MEG3 PUF60 RBM10 GFM2 ZC4H2 SLC29A3 PHEX EN1 HDAC6 HOXD10 ADAT3 LBR ERCC1 GLE1 ERCC2 MKKS PHGDH CHRNG ERCC6 MYLPF EBP COL2A1 ARID1B CUL7 AEBP1 MMP2 DLK1 WNT7A EXT2 EPB41L1 HP_SANDAL_GAP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SANDAL_GAP ATR SMARCA2 FBXO11 SETD5 HERC2 FLNA RAI1 B3GAT3 SATB1 IGF1R SUZ12 BMP2 SMOC1 GMNN TBX4 FLNB TRAIP SMARCD2 COX7B DPM1 PCNT DSP LIG4 RBBP8 SALL4 COL1A2 ATRIP SVIL GALNT2 BPTF RHOA IFT57 CTCF ROR2 FBXW11 ADNP TRIP12 CENPJ LTBP4 ALG12 ESCO2 PIK3CA DCPS BCOR LBR YY1 IFT43 CREBBP TNNT3 CHST3 NSD1 NSUN2 COL11A2 EP300 CEP152 EFNB1 SLC26A2 MBD5 CENPE CRKL VPS13B SMARCE1 AEBP1 B3GALT6 CANT1 BCR EZH2 KAT6A PLK4 NXN MAPK1 EED ARID1B PIEZO2 NBAS IFT52 CILK1 CUL4B MEIS2 MTX2 HP_TOE_CLINODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TOE_CLINODACTYLY PALS1 JARID2 MYT1L MID2 KMT2E CCDC32 ZMIZ1 ARHGEF6 WASF1 RAB39B NTNG1 TGFBR2 GDI1 CKAP2L ZNF41 WDFY3 RPS6KA3 PIGH HEPHL1 ALG13 SLC9A7 FLNA ZNF81 ALG3 MECP2 USP27X FRMPD4 TRIP12 SLC12A2 SVBP TANC2 AGTR2 PTCHD1 MED27 ARX GRIA4 COG8 FTSJ1 PAK3 TSPAN7 CNOT3 ACTL6B KCNMA1 RNF6 DACT1 XYLT1 MED12 TCF20 IQSEC2 HUWE1 KAT8 DPYSL5 STEEP1 HS2ST1 KCNJ2 SALL1 BPTF PUS7 DDX6 PTPN23 MED13 UBR7 SYP IL1RAPL1 DLG3 RSPRY1 NTNG2 UPF3B DLEC1 FLI1 USP9X DOCK3 RLIM CLCN4 ACTL6A MAPK8IP3 HPDL KCNJ5 HTT BCORL1 HCFC1 KDM4B TNRC6B PSMD12 TRMT1 TRAPPC4 WWOX DMD SATB1 FBXW11 AGO2 SATB2 ACSL4 ZNF711 MADD CNKSR2 HP_CLINODACTYLY_OF_THE_5TH_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLINODACTYLY_OF_THE_5TH_TOE WWOX KCNJ5 ALG3 PIGH RNF6 TGFBR2 HEPHL1 KCNJ2 CKAP2L DLEC1 SALL1 HP_DEEP_PLANTAR_CREASES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEEP_PLANTAR_CREASES HRAS GPR101 ABCC9 EP300 ATP6V0A2 KCNJ8 PIGN ATP6V1B2 TBL1XR1 ASXL1 ERCC6 KCNH1 KCNN3 MTOR PIGQ CREBBP HNRNPK AIP HP_ABNORMAL_THROMBOCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THROMBOCYTE_MORPHOLOGY A2ML1 RAG1 CFH UROS ADA2 LACC1 IFNGR1 AGK KMT2D PTPN22 RNASEH2A TNFRSF13B TREX1 KRAS TERT APOE GNAS EPHB2 PKHD1 ZAP70 RTEL1 TNFAIP3 CBL CUBN GFI1B FAS FIP1L1 SLC20A2 PRKACG CISD2 EFL1 NHP2 GATA1 ANKRD11 P4HA2 MAP2K1 RFXAP MMUT TPP2 RBM8A IL7R SOS2 IFIH1 SAMHD1 LAT SBDS SC5D ITGB3 ARHGEF1 BCOR SOS1 STAT3 RPS27 RFWD3 MAD2L2 SLFN14 ERCC4 SAMD9L PIK3CD SLC46A1 OTUD5 NRAS GBA RPS20 MMAB PARN CIITA MPL GUCY1A1 DKC1 ELANE MADD LARS2 SPATA5 LIG4 THPO UQCRFS1 WDR1 WAS MTOR PEPD FCGR2A HLA-DRB1 RPS29 SLC7A7 RPS10 ACAD9 COG4 TNFSF12 TINF2 BTK THBD RPL26 PCCA KIF15 TET2 ABCA1 SLC35A1 ETV6 RFX5 RRAS2 RNASEH2C XPR1 ADH5 SRSF2 UBA1 ADAR ITGA2 ADA OCRL PRKCD PML RPS24 NFKB1 JAM2 PIGA TALDO1 PSTPIP1 CASP10 SEC24C PTPN11 HLA-DQB1 GP1BA NFKB2 LCP2 RPL27 BCR COMT NOP10 SOCS1 FLT1 HLCS JMJD1C BRCA2 MAGT1 COG1 CDC40 PDGFB RAG2 CALR MECOM TNFSF11 FANCG NHEJ1 VWF NIPBL PRF1 GALC SCN9A RUNX1 FOXP3 WFS1 ZBTB16 HOXA11 UBE2T NSUN2 FANCA RRAS RPL15 LYST IRAK1 PSMB9 SAMD9 SCARB2 NOS3 SRP54 CFHR3 OSTM1 DGUOK HIRA JAK2 PSMB8 RPSA DNAJC21 PLA2G4A TBX1 TBC1D24 ABCD4 TP53 MYSM1 TCIRG1 FANCB GP1BB FLNA SRC DLL4 NBN DZIP1L GNA14 CLCN7 NBEAL2 SMPD1 LRBA RPL31 TMEM165 STAT5B SH2B3 FANCE ALG8 MYORG GP9 ABL1 MS4A1 PRKAR1A FANCF NOTCH1 PMM2 USP18 ARVCF AMN CTC1 PSAP CTLA4 SARS2 CFI PRDX1 POMP RREB1 ACTN1 BLOC1S5 BRCA1 RPS17 HPS6 G6PC3 CYCS ERBB3 PNP STIM1 MYH9 DIAPH1 ASXL1 RAD51C CFHR1 ITGA2B TENT5A RPS28 SALL4 ENPP1 RPS15A ATRX VPS45 RIT1 RBPJ KCNJ1 EOGT RPL18 STAT2 ACD MVK KIT RAF1 ATP6AP1 FARS2 IVD RYR1 ICOS CD81 PDGFRB RPL35 CA2 OCLN TERC RPL35A RFXANK STAT4 FANCC SLX4 STXBP2 HELLPAR NABP1 TSR2 BLOC1S3 CD109 RARA SLC19A2 MGAT2 HPS4 WARS2 PLAU LBR LIPA ATP6V1B2 CD19 STING1 CDC42 ANKRD26 XRCC2 ACP5 C3 STX11 NLRC4 DCLRE1C RPL5 IFNG TBL1XR1 RNASEH2B ABCC6 MPIG6B ARPC1B ATP7B RPS26 COG6 CD46 AP3B1 ERCC6L2 FASLG BRAF DTNBP1 SCN11A DNASE1 IKZF1 TTC37 SF3B1 STT3B PSMB4 NPM1 RPS14 ITK RAD51 MTHFD1 NUMA1 CD40LG TGFB1 FCGR2C IRF2BP2 SP110 TUBB1 FCGR2B KDELR2 MMAA FLI1 RASGRP2 RASGRP1 FYB1 TCN2 SMARCD2 SH2D1A HLA-B SMARCAL1 MMACHC ABCG8 UNC13D TFRC PHGDH LMBRD1 NLRP3 FANCI KDM6A CR2 MBTPS2 WIPF1 CORIN BTNL2 P2RY12 FANCD2 RPS19 FERMT3 STOX1 FANCL RPS7 GATA2 CD55 STAT1 HPS3 ORAI1 SPP1 TBXAS1 BLOC1S6 HMGCL SKIV2L RPL11 ARHGAP31 IKZF5 VPS33A DGKE UFD1 MRAS SCN10A ADAMTS13 COL4A5 CD36 HYOU1 SNX10 LZTR1 HBB HPS5 WRAP53 TNFRSF13C USB1 PCCB ALG12 ESCO2 MOGS PPIL1 HLA-DQA1 RASA2 DOCK6 TBXA2R DHFR CFB ASAH1 XIAP ACAT1 BRIP1 FANCM PALB2 HP_ABNORMALITY_OF_NEUTROPHILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_NEUTROPHILS NRAS RPS28 RPS15A PPCS ATRX VPS45 MYD88 GFI1 ADA2 STK4 TNNI3 RPL18 KRAS TERT KIT HELLS CD79A PLN TNNT2 RPL35 SBDS MEFV TERC FOXP3 CBL CLPB CUBN RPL35A NCF2 FAS TMPO FANCA FIP1L1 RFXANK OTULIN EFL1 NHP2 CXCR4 TPP2 GATA1 PGM3 FKTN FANCC SRSF2 STXBP2 RFXAP FCGR3B MMUT AGA TXNRD2 NABP1 ICOS IL7R RAC2 TSR2 TAF1A NEXN COG4 VCL ANKRD1 TFR2 RARA PRF1 RBM20 LAMTOR2 RFX5 LBR BCOR RNF113A STAT3 RPS27 MAD2L2 PRDM16 ASXL1 CIITA CYBB PIK3CD SLC46A1 MYH7 SRP54 CDCA7 CAP2 TBK1 CYBC1 STX11 FTCD MYH6 IRAK4 RPS20 MMAB PARN PNP RPL5 PIK3R1 ABCC9 DKC1 PSEN1 ELANE IFNG NOP10 TBL1XR1 WAS ERCC3 DNMT3B LRRC8A SLC37A4 TNNC1 WDR1 RPS7 TPM1 AK2 ERCC2 GATAD1 LAMA4 MVK RPS29 LMBRD1 TAFAZZIN RPS10 RPS26 DNAJC21 TRAF3 TINF2 BTK AP3B1 FASLG RPL26 PCCA NCF4 ACTN2 TET2 IKZF1 SF3B1 GPI NPM1 SLC35A1 RPS14 ETV6 GINS1 CSF3R TDP2 UBE2A TCIRG1 NUMA1 CD40LG GTF2H5 DSG2 PML IRF2BP2 RPS24 CEBPE DSP CASP10 RECQL4 LCP2 RPL27 FANCI SLC35C1 MMAA NCF1 SLC19A1 SAMD9L EIF2AK3 GATA2 TCN2 SMARCD2 SH2D1A HLA-B RASGRP1 SMARCAL1 IGLL1 MMACHC AP3D1 CDC40 MPLKIP RMRP FBXL4 UNC13D TLR3 IL1RN MYPN JAGN1 DES GSS TFRC CD79B ZBTB24 TICAM1 FANCG MECOM SEC61A1 FDX2 CYBA NLRP3 FUT8 VPS13B ITCH RUNX1 FHL2 ZBTB16 RPL11 PACS2 NSUN2 SCN5A RPL15 LYST FANCD2 USB1 RPS19 FMO3 SAMD9 UNC93B1 TARS1 HTRA2 DOLK STAT1 LMNA SGCD MDM4 CXCR2 MTRR PMM2 IGHM ABCD4 MYSM1 DMD BLNK HAND2 WIPF1 LIG4 VPS33A GTF2E2 RTEL1 FIBP SDHA LRBA RPL31 HAX1 WRAP53 ACP5 PSEN2 STAT5B FANCE CSRP3 PCCB IL36RN TONSL TCAP ACTC1 PRKAR1A PPIL1 PRKCD RPS17 CD40 CRYAB MYH9 AMN MSN TCF3 CTC1 RAF1 ANAPC1 MYBPC3 PRDX1 LDB3 TTN RAB27A RAG1 XIAP G6PC3 BAG3 HP_PANCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCYTOPENIA PALB2 ATR XIAP NRAS COQ2 RECQL4 SRP54 GFI1 MMAA NOP10 SAMD9L GATA2 NAXD TCN2 GBA SH2D1A RNASEH2A KRAS CALR SLX4 FANCB IKZF1 MRPS7 IVD DNAJC21 PRF1 TNFSF11 SBDS TET2 NHP2 CBL CUBN STN1 LMBRD1 FANCA FIP1L1 SRP72 ITCH RFXANK RUNX1 FANCC MAN2B1 SRSF2 ZBTB16 RFXAP SLC46A1 UBE2T TERT NABP1 LIG4 FANCD2 TINF2 TERC JAK2 SAMD9 CD27 BACH2 RARA HOXA11 BCOR OSTM1 NPM1 MTRR ALPK1 FARSB WRAP53 TCIRG1 ACP5 LYST RAC2 NLRC4 MMAB CIITA MPL LRBA IFNG TNFRSF4 HAVCR2 TBL1XR1 ZNF699 STAT5B GNAS FANCE PCCB ADA2 PRKAR1A NBN COG6 DKC1 XRCC4 PCCA AMN ANAPC1 SF3B1 ELANE EFL1 RFX5 ITK DHFR RAB27A HLA-DRB1 MTHFD1 SCARB2 NUMA1 STAT3 PML IRF2BP2 SP110 ACD PIGA TALDO1 PSTPIP1 ASXL1 HP_ABNORMAL_ERYTHROCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ERYTHROCYTE_MORPHOLOGY RAG1 ATP11C ENG FLI1 IFNGR1 SFXN4 KMT2D MT-ND6 TGFB1 FECH TREX1 MUC1 KRAS MMADHC KLF1 SMAD4 APC LAMB3 KCNJ11 NTRK1 RTEL1 CBL STEAP3 ABCC8 TERT GATA1 ANKRD11 MT-TS2 CD247 TPP2 BMPR1A ACVR1 FAM111A EGLN1 SBDS SC5D ERCC8 RPS15A RHCE BCOR INS STAT3 RPS27 ACVRL1 ERCC4 HBB HMGCL SLC46A1 PHKG2 GLRX5 HSPA9 CYB5R3 MMAB PARN PDX1 MPL PFKM ELANE LARS2 C1GALT1C1 CUBN ZNF699 ABCB7 UQCRFS1 WAS TACO1 AK2 ERCC2 LAMC2 YARS2 RPS29 SLC7A7 RPS10 BTK THBD ATRX PCCA KIF15 SLC25A10 BRCA1 PPOX UROD RFX5 KIT LIPA MT-TW AMMECR1 TPI1 DNAJC19 ABCD3 ALAS2 PTEN MTRR PML RPS24 NFKB1 PIGA QRSL1 RRM2B AMN SLC2A1 RECQL4 NFKB2 GYPC SOCS1 SLC19A1 EPB41 BRCA2 COG1 CDC40 MPLKIP HBA1 PET100 GBA FANCG NHEJ1 TCIRG1 TTC7A PANK2 NDUFA12 NDUFS2 CEL HPRT1 NDUFS3 PTPN22 WFS1 PACS2 HBA2 TOR1A ANK1 LYST AASS TINF2 DNM1L PSMB9 PIGT CA2 ACAD8 TARS1 HBG1 RAG2 NDUFA13 PNPO PLEKHM1 OSTM1 OPA1 MEFV CISD2 LPIN2 PKLR PSMB8 RPS26 MDM4 PTPN2 FANCB GATB RPS14 CCND1 GCNT2 CLCN7 FERMT1 EPO HAVCR2 HNF1A FANCE MT-TF PRKAR1A RPL26 SPTA1 RPS17 MTTP UNC45A TBXAS1 CFI KCNN4 FAS NPHP1 BCL10 G6PC3 ECHS1 TF PNP STIM1 IL2RA ASXL1 RAD51C UBR1 CFHR1 RPS28 IREB2 VPS45 NLRP3 MYD88 SLCO2A1 RPL18 STAT2 ACD PHF21A HELLS COA8 FADD ATP6AP1 SLC30A10 SLC25A13 ICOS PIEZO1 GCK CD81 PRF1 CD3G ADAR SLC11A2 FANCA RFXANK PGK1 STAT4 GLA FTCD SLX4 TBCE GCLC PLEC TEK CBLIF TNFSF11 RARA SLC19A2 RNF113A PRPS1 ALDOA VHL MADD CYP4F22 CD19 MYSM1 FARSB STING1 CYB5A TSR2 CDCA7 PDGFRA ACP5 IL2RB FARSA MARS1 DCLRE1C CAT MT-CO1 UMPS WT1 ERCC3 SLC37A4 COL4A1 RPS7 SRD5A3 ATP7B MMP1 THPO DNAJC21 FASLG DNASE1 IKZF1 SLC4A1 UBE2T SF3B1 PSMB4 GALT SPTB ITK RAD51 FN1 TKFC XK SCARB2 NUMA1 RBM8A PDHA1 TMEM67 SP110 PGM3 RHAG HBG2 ABCB6 CLCNKB MMAA MT-TL1 RASGRP1 SLC35C1 TMPRSS6 RIPK1 AK1 RPL5 HLA-B SMARCAL1 ABCG8 RMRP KCNE5 DKC1 ALG8 MMACHC GSS COX10 ZBTB24 TET2 CASP10 CAD PHGDH LMBRD1 FDX2 FANCI MT-CO2 MT-TN NDUFAF6 KDM6A CR2 COL3A1 F8 A4GALT BTNL2 F2 SAMD9 NDUFA10 FANCD2 RPS19 JAK2 SCO2 NDUFV2 FANCL ORAI1 ERCC6 SPP1 NDUFV1 EPHB4 HK1 RPL11 KLF11 MT-CO3 APPL1 TNFSF12 WIPF1 VPS33A STX11 SNX10 GALNT2 WRAP53 UROS PCCB IL37 SDHB BPGM ADA COL7A1 ANAPC1 NDUFB8 SURF1 PCNT DHFR SAR1B MMUT NDUFAF2 ALPL EXT2 COQ2 GPX1 CFH NT5C3A ADA2 HBD TNFRSF13B YIPF5 CD151 TNFRSF11A ZAP70 COL17A1 TNFAIP3 CRIPT NPHP4 SLC25A38 FIP1L1 PRKACG EFL1 NHP2 RFXAP EWSR1 APOA1 SDHA LAT ISCU RFWD3 MAD2L2 RPL27 SAMD9L ERF IL7R CDIN1 CLPX EPB42 RPS20 CIITA TRNT1 DNMT3B PEPD LIPT1 SLC19A3 FCGR2A HLA-DRB1 CASR KIF23 ABCA1 PUS1 TP53 ITGB4 ETV6 FH LCAT NDUFS8 TYMP ADH5 VPS13A SRSF2 UBA1 APOB OCRL PRKCD GTF2H5 TALDO1 PSTPIP1 HLA-DQB1 LCP2 EIF2AK3 BIRC3 LAMA3 DBH STAT1 PHKA2 G6PD SEC23B SLC29A3 MECOM SEC61A1 RUNX1 FOXP3 SMPD1 COX15 ZBTB16 DDX41 NSUN2 ZBTB20 SHPK FGF23 HNF4A STK11 TCN2 DPAGT1 RPL15 IRAK1 NOD2 FMO3 CASK SRP54 CFHR3 RHD RPSA NDUFS7 PLA2G4A ABCD4 MALT1 KRT14 C2orf69 RPL35 NBN GTF2E2 GNA14 XRCC4 LRBA RPL31 IDH2 STAT5B GATC KCNE1 MS4A1 FANCF FOXRED1 HPGD CTSK MT-TQ REN SLC40A1 CTC1 PSAP CTLA4 SARS2 LIG4 PRDX1 NDUFAF5 ALX4 ERBB3 GSR HMOX1 NRAS KHK MT-TS1 IDH1 MVK FARS2 UNC13D TERC RPL35A SH2B3 EPOR ALAD FANCC STXBP2 HELLPAR NABP1 RAC2 NLRP1 TFR2 NDUFA2 ACSL4 SYK MLX LYRM7 MT-TH MTFMT PTH1R NSMCE2 GREM1 KARS1 NHLRC2 RPGRIP1L IRX5 XRCC2 SLC25A21 C3 CYBC1 BLK CPOX ANKRD55 NLRC4 PAX4 IFNG NOP10 TBL1XR1 CHD7 MPIG6B NDUFAF3 SDHC CD46 ERCC6L2 AGXT COL2A1 GPI NPM1 GDF2 PTF1A MTHFD1 SLC12A3 CD40LG IRF2BP2 MT-ND4 CDAN1 FCGR2B SMARCD2 CALR TFRC DAXX POLG COX4I2 KRT5 CD59 THRA ELMO2 NDUFA9 KCNQ1 NEUROD1 FERMT3 MT-ND1 AGGF1 IL12B EPAS1 IFT140 MT-ND5 CD55 IL2RG CP MTX2 KIF1B NDUFA4 GP1BA NDUFS1 DGKE HAMP ADAMTS13 HYOU1 TNFRSF4 TNFRSF13C USB1 YARS1 FOXP1 LARS1 HLA-DQA1 ACTN4 NDUFS4 CFB ASAH1 PSMG2 ITGA2B BRIP1 FANCM PALB2 MTR HP_HEMOLYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMOLYTIC_ANEMIA CFHR1 RHAG SLC4A1 CASP10 NRAS SLC2A1 FCGR2B HBB GPX1 ATP11C NFKB2 LCP2 CFH NT5C3A ABCB6 SPTB UROS RASGRP1 GYPC SOCS1 SLC19A1 EPB41 ATP7B PKLR KMT2D AK1 FECH TNFRSF13B TREX1 CTLA4 GCLC KRAS ABCG8 WAS STAT1 ICOS PIEZO1 RAG2 GSS PFKM G6PD CD81 CD3G ZAP70 TNFAIP3 FOXP3 ADAR FAS CD59 TTC7A RFXANK PGK1 ALAD STAT4 KDM6A CR2 SPTA1 TPP2 EPB42 PGM3 NBN HBA1 CD247 RFXAP BTNL2 HELLPAR ANK1 NLRP1 IRAK1 CASK PIGT RAG1 LAT RHCE CFHR3 ALDOA STAT3 RHD SPP1 HBA2 HK1 CD19 GATA1 NHLRC2 ACP5 C3 GP1BA CYBC1 CPOX IL2RB TNFSF12 WIPF1 DGKE PNP ADAMTS13 CIITA PTPN22 LRBA TNFRSF4 TNFRSF13C COL4A1 MS4A1 FCGR2A HLA-DRB1 PRKCD CFI GALT CD46 BPGM FASLG THBD KCNN4 DNASE1 UROD GPI RFX5 ITK LCAT CFB TPI1 PSMG2 CD40LG ADA NFKB1 PIGA STIM1 IL2RA GSR HMOX1 HP_ABNORMAL_EOSINOPHIL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EOSINOPHIL_MORPHOLOGY CASP10 RNU4ATAC IL7R RAG1 SRP54 STAT3 GFI1 ZNF341 SREBF1 BCL11B WIPF1 RASGRP1 DCLRE1C SLC27A4 CD247 WAS IKBKG KIT ELANE DOCK8 RAG2 CARD9 ZAP70 CHD7 FAS TRAC SPINK5 EXTL3 HLA-DRB1 PRKCD CD3E PGM3 FOXP3 FASLG SLC46A1 ADA JAK1 BTNL2 NLRP1 CAPN3 TET2 PDGFRB LIG4 CD3D SRSF2 CARD11 RMRP NLRP3 TCIRG1 IL6ST RBM8A PDGFRA IL2RG ASXL1 HP_LEUKOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEUKOPENIA RPS28 FCGR2B RPS15A VPS45 RPL27 RBPJ UROS ADA2 EOGT RPL18 GBA BRCA2 TREX1 FANCE FANCF ATP6AP1 IVD PRF1 RPL35 RPL35A FANCI FIP1L1 STAT4 GATA1 VPS13B SLX4 ZBTB16 DDX41 BTNL2 FANCA TERT NABP1 SAMD9 RPL15 LYST TSR2 RPS19 IRAK1 FANCL RARA SBDS RPS7 SRP54 BCOR LIPA TGFB1 NPM1 RPS27 RFWD3 RTEL1 SPP1 ERCC4 TBXAS1 MYSM1 SLC46A1 BLOC1S6 HMGCL RPL11 ARHGAP31 OTUD5 STING1 XRCC2 FANCB DLL4 RAC2 VPS33A RPS20 RPL5 PTPN22 RPL31 TBL1XR1 ZNF699 STAT5B AK2 FCGR2A HLA-DRB1 PRKAR1A RPS29 SLC7A7 RPS10 NOTCH1 RPS26 DNAJC21 DKC1 FANCC ERCC6L2 RPL26 DNASE1 DOCK6 UBE2T EFL1 CTLA4 SARS2 FANCG RPS14 ITK RAD51 ADH5 MMUT BRCA1 SCARB2 TINF2 NUMA1 RPS17 BRIP1 FANCD2 G6PC3 STAT3 PML IRF2BP2 RPS24 PIGA PGM3 FANCM PALB2 MAD2L2 RAD51C HP_TALIPES_CALCANEOVALGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TALIPES_CALCANEOVALGUS ERMARD ATRX DHCR7 PMP22 VPS33B NEFL CHRNG VIPAS39 LMX1B PLA2G6 SPECC1L HP_LYMPHOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LYMPHOPENIA RAG1 FCHO1 NFKB2 GFI1 STK4 KNSTRN GATA2 RAG2 SEMA3E TCN2 RASGRP1 MAGT1 SMARCAL1 TNFRSF13B DNMT3B CTLA4 FAT4 CD3D CD247 WAS CD3E PIK3CD HELLS IKZF1 STAT1 JAK3 MCM10 ICOS CD81 ZBTB24 CD3G ELANE ZAP70 TNFAIP3 CASP10 NHEJ1 LEP IVNS1ABP PTPRC IL2RG FAS LEPR RFXANK STAT4 CR2 PGM3 PIK3R1 PTEN EXTL3 CD8A WIPF1 RFXAP ADA SGPL1 TPP2 TRNT1 DOCK8 SAMD9 IL7R TINF2 TERC IRAK1 PSMB9 LAT TFR2 RRAS2 TCF3 IKBKB BTK SYK MYD88 SPP1 MDM4 CHD7 CD19 FOXN1 IGHM SKIV2L MYSM1 STING1 RIPK1 SRP54 CDCA7 CCBE1 ATM CYBC1 CTPS1 TTI2 TNFSF12 RAC2 BCL11B EPG5 DCLRE1C NBN DOCK2 PNP CIITA XRCC4 LRBA ACP5 UNC119 TNFRSF13C LCK IKZF3 WDR1 ADAMTS3 ALG12 ADA2 MS4A1 PRKCD CORO1A MYC MSN TTC37 FASLG PSMB4 RFX5 ITK NSMCE3 RMRP MTHFD1 TCIRG1 AK2 G6PC3 CXCR4 SP110 NFKB1 IL7 IL2RA TERT HP_MEGALOBLASTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEGALOBLASTIC_ANEMIA SLC46A1 LMBRD1 AMN HPRT1 FTCD UMPS WFS1 SLC19A1 CBLIF MMACHC MMADHC SLC19A2 PRDX1 PHGDH DHFR CUBN MTHFD1 MTRR MTR HP_AUTOIMMUNE_HEMOLYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTOIMMUNE_HEMOLYTIC_ANEMIA PRKCD CASP10 TPP2 NBN LCP2 FASLG CD247 RFXAP ACP5 RASGRP1 IL2RB NLRP1 CTLA4 RAG1 PNP RFX5 ITK CIITA STAT1 LRBA TTC7A RAG2 PSMG2 FAS CD3G ZAP70 FOXP3 ADA STAT3 WAS STIM1 RFXANK NFKB1 HP_IRON_DEFICIENCY_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRON_DEFICIENCY_ANEMIA CASP10 MMP1 HLA-DQB1 KCNQ1 HLA-DQA1 FASLG CLCNKB CLPX FGF23 EIF2AK3 COL2A1 COL7A1 ATRX APC ALAS2 HBB GALNT2 FN1 ABCD3 DAXX CD55 ZNF699 FOXP3 SLC12A3 WAS FAS KCNE1 PLA2G4A STK11 HP_ABNORMAL_BLEEDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLEEDING ATP7A SF3B1 SDHD A2ML1 C1R COL1A1 B3GALT6 CFH ENG COL3A1 UROS HLA-DPA1 PDCD10 F7 FLI1 PTPN22 MAP2K2 TNFRSF13B SMAD4 EIF2AK4 CDKN2B VHL APC SDHC SH2B3 NTRK1 EPHB2 PKHD1 CCR1 FGA CBL CUBN COL1A2 F13A1 STN1 ERCC8 GFI1B FAS TNXB FIP1L1 SLC20A2 PRKACG TGFB2 CISD2 F11 SERPINF2 HPS1 PIK3CA ARF1 TGFBR2 CYP26C1 P4HA2 MAP2K1 SMAD3 ITGB4 PMS2 SDHA ABCC6 ZEB2 BMPR1A ZNF469 SDHB LMAN1 SEC63 SOS2 MLH3 SBDS CFHR3 TREX1 ITGB3 MSH2 BCOR APP SOS1 ACVRL1 SLFN14 COPA HEY2 CHST14 MYLK GATA1 PDGFB F8 NRAS AIP BAP1 MCFD2 TMTC3 SEMA4A TSC1 MPL SIK3 ADA2 F12 PLEC TSC2 STXBP1 DOCK8 RET FZD4 CTCF CCM2 RANBP2 STAT4 MTAP CYP7B1 JAK2 WAS GNAS PEPD LMNA PROC CACNA1D MAX SLC7A7 KRT1 TNFSF12 PRLR FLNA ACAD9 PCCA KIF23 TGFBR3 TET2 GSN UROD DNMT3A SLC35A1 ETV6 NEDD4L KIT RRAS2 ERAP1 XPR1 AEBP1 NDP ATP6V1A COL5A2 FKBP14 GBA ITGA2 PTEN PML NFKB1 JAM2 C1S SERPINE1 RNF168 MDH2 BRCC3 CASP10 SEC24C PTPN11 GP1BA NFKB2 LCP2 COMT COL5A1 IL23R F5 SREBF1 JMJD1C SLC2A10 MYH11 FAH CDKN1B ANGPTL6 ADAMTS2 CYSLTR2 COL4A2 VWF TTC7A LMX1B PRF1 ETHE1 RIN2 RUNX1 ZBTB16 GNAQ RRAS STK11 DPAGT1 FN1 LYST ACTA2 KIF1B FGB HOXA11 F9 THSD1 ARFGEF2 CST3 PLOD1 KANSL1 HIRA SLC39A13 SMO PMM2 TBX1 ARL6IP6 TP53 ACP2 GCDH GP1BB IL10 XYLT2 RS1 SRC DLL4 MPI DZIP1L IKBKG GNA14 CLCN7 NBEAL2 SMPD1 NF1 STAT5B RASA1 PUF60 FANCE FAN1 MYORG LRP5 F10 GP9 MS4A1 VKORC1 PRKAR1A ATP6V1E1 XYLT1 EPAS1 CPT2 NOTCH1 FH FBN1 HPGD CDKN2C USP18 ARVCF MTTP AMN MYC GDF2 FGG CDKN1A SLC25A11 PET100 CFI KCNJ5 SDHAF2 ERMARD RREB1 G6PC1 APOE CDH23 ACTN1 IL18BP RAB27A BLOC1S5 CTLA4 CALR CTC1 HPS6 STIM1 MYH9 ASXL1 CFHR1 RB1 ITGA2B TENT5A ZNF408 ENPP1 ATRX MYD88 MLH1 RIT1 UBAC2 RBPJ ANO6 EOGT SLCO2A1 CLCN2 GGCX STAT2 KRAS FOXE3 C2 RAF1 C4A SLC25A13 IVD RYR1 ICOS MEFV CD81 BEST1 PDGFRB KLRC4 OCLN AKR1D1 CYP11B1 PRKCSH FANCA EPOR AKT1 TGFB3 ATOH7 FANCC SRSF2 STXBP2 HELLPAR TMEM127 NABP1 TEK TNFSF11 BLOC1S3 CD109 ADAMTSL2 TFR2 RARA MGAT2 HPS4 PLAU SNX10 TGFBR1 NFIX COL4A1 MAPK1 TLR4 NOTCH3 EFEMP1 CD19 ATP8B1 GREM1 USP8 ANKRD26 KRIT1 PDGFRA STX11 NLRC4 CTNNB1 CAT CBS LOX HLA-DRB1 GNA11 RPS20 BMS1 IFNG TBL1XR1 DLST SLC37A4 ZMPSTE24 TNFRSF1A ELN IL12A-AS1 DSE TRAF7 LMBRD1 ATP7B COG6 HLA-DPB1 AP3B1 DNM2 BRAF DTNBP1 MFAP5 HBA2 IKZF1 RPS14 SUFU EPHB4 NEU1 SCARB2 NUMA1 FCGR2C IRF2BP2 SP110 MAP1B PLVAP ALDOB IL10RA KDELR2 VPS33B PRTN3 RASGRP2 FYB1 CAPN5 HLA-B RASGRP1 ABCG8 COG8 RHBDF2 UNC13D HMCN1 SMARCB1 MMACHC PDE11A DAXX PEX12 MSH6 NLRP3 ELMO2 CR2 MBTPS2 P2RY12 PROS1 F2 SAMD9 FANCD2 FERMT3 NF2 SMARCE1 AGGF1 PRKACA WFS1 EPCAM GATA2 F13B NPM1 HPS3 ORAI1 PRDM5 ARHGAP31 IKZF5 SMAD2 TERT PRKG1 ERCC6 IL12A WIPF1 UFD1 PMS1 THPO MRAS CD36 GP6 LZTR1 CYP11B2 MAT2A HBA1 HPS5 ACP5 LBR TNFRSF13C PCCB SPARC PRKCD TSPAN12 TCIRG1 ARMC5 MEN1 RASA2 TERC DOCK6 FASLG TBXA2R MVK NDE1 ATP6V0A2 PLOD3 MMUT COLGALT1 STAT3 RFT1 ALPL HSD3B7 CD46 HP_THROMBOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THROMBOCYTOSIS PIK3CD TBC1D24 RPS28 HMGCL SKIV2L RPL11 STING1 HLA-DQB1 RPS15A RPL27 BCR ADA2 LACC1 IFNGR1 RPL18 TTC37 JAK2 RPS20 THPO CALR RPL5 MPL ELANE RPL31 HBB RPL35 TET2 SH2B3 RPL35A ABL1 IFNG RPS29 RPS10 RPS19 GATA1 RPS26 RUNX1 PMM2 HLA-DQA1 RPL26 RPL15 SF3B1 TSR2 RPS14 RPS7 CD55 MTHFD1 RPS17 ACAT1 TGFB1 RPS27 RPS24 RPSA ATP6V1B2 PSTPIP1 HP_NORMOCHROMIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NORMOCHROMIC_ANEMIA RPS29 RPS28 RPL11 RPS10 GATA1 RPS26 RPS15A RPL27 BPGM RPL15 ADA2 RPL26 RPL18 SF3B1 TET2 TSR2 RPS19 RPS20 KIT RPL5 TREX1 LCAT RPS7 RPL31 TPI1 SRSF2 RPL35 RPS17 ALDOA RPS27 RPL35A UQCRFS1 ASXL1 RPS24 HK1 HP_RETICULOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETICULOCYTOPENIA RPS29 RPS28 RPL11 RPS10 RPS19 GATA1 MYSM1 RPS17 RPS26 RPS15A RPS24 FANCC RPL27 RPL15 ADA2 RPL26 TCN2 RPL18 TERC FANCD2 TSR2 RPS20 TERT RPL5 SBDS PRF1 RPS7 RPL31 IFNG RPL35 FANCE RPS27 RPL35A STEAP3 FANCA HP_NORMOCYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NORMOCYTIC_ANEMIA SBDS EFL1 TREX1 ATP6AP1 SRP54 RPS29 DNAJC21 TPI1 MYD88 SRSF2 BPGM ALDOA TOR1A ASXL1 SF3B1 TET2 HK1 KIT HP_INCREASED_HEMATOCRIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_HEMATOCRIT HBA2 EPAS1 VHL JAK2 EPO HBB HBA1 EGLN1 SH2B3 HP_INCREASED_HEMOGLOBIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_HEMOGLOBIN EPAS1 VHL JAK2 EPO GATA1 HBB EGLN1 SH2B3 HP_POLYCYTHEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYCYTHEMIA ACVRL1 JAK2 ENG BPGM SLC30A10 HBA2 VHL KCNN4 PIEZO1 PKLR HBB EGLN1 CYB5R3 FH EPAS1 SLC4A1 EPO GATA1 HBA1 CCND1 SH2B3 EPOR HP_GIANT_PLATELETS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GIANT_PLATELETS CD36 GP1BA GP1BB LBR ITGA2B MYH9 GP9 SLC35A1 ABCG8 HP_NEUTROPENIA_IN_PRESENCE_OF_ANTI_NEUTROPIL_ANTIBODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUTROPENIA_IN_PRESENCE_OF_ANTI_NEUTROPIL_ANTIBODIES PRKCD CIITA CASP10 TPP2 ITCH FAS FASLG RFXAP FCGR3B RAG1 FOXP3 STAT1 STAT3 ICOS RASGRP1 PGM3 RFXANK PNP RFX5 HP_CONGENITAL_THROMBOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_THROMBOCYTOPENIA GATA1 MECOM STAT2 HOXA11 WAS MYH9 HP_THROMBOEMBOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THROMBOEMBOLISM MTRR HABP2 KIF20A HRG MYPN TNNI3 MTHFR PRKAR1A KCNN4 CITED2 PIEZO1 SERPINC1 MMACHC MT-CYB PRDX1 F12 SLC4A1 SCN5A NPPA KCNQ1 F13A1 JAK2 UBA1 FLNC CBS FCGR2C TLL1 PIGA ADA2 F2 TNNT2 EPOR HP_HYPOPLASTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_ANEMIA SAMD9L LPIN2 RPS19 ZNF699 RMRP MVK HP_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEUKEMIA RB1 NRAS RPS28 BRCA2 POT1 RPS15A SH3GL1 ATRX BUB3 BUB1B MYD88 PIK3CA GFI1 ADA2 KIF11 RPL18 KRAS DYNC2LI1 TYROBP KIT MPL SH2B3 DNAJC21 RPL35 SBDS CBL RPL35A F13A1 NF1 FANCA ARHGAP26 RUNX1 MSH2 GATA1 PIK3R1 FLT3 FANCC SRSF2 MAP2K1 NUP214 PTPN11 TSR2 IFIH1 SAMHD1 APC2 PDGFRB PICALM JAK2 PDGFRA RPS27 BLM PIGL ASXL1 SAMD9L TAL2 NUMA1 DNMT3A TP53 SRP54 GATA2 CHIC2 TREM2 CHEK2 RPS20 RPL5 BCR ELANE RNASEH2B ALAD LPP NBN GNB1 RPS29 RPS10 RPS26 RPL26 BRAF TERT TET2 RARA SCN11A SF3B1 EFL1 RPS14 CDKN2A SETBP1 ADH5 MDM2 TCIRG1 ADAR RPS24 ATM RECQL4 RPL27 RNASEH2C BUB1 EVC WAS IKZF1 RNASEH2A NSD1 TREX1 FANCG GLI1 NPM1 SCN9A TAL1 ETV6 DDX41 NSUN2 STS LIG4 RPL15 FANCD2 RPS19 SETD2 SAMD9 NUTM1 ABL1 RPS7 MEFV MLH1 RPL11 APC WIPF1 EVC2 CREBBP THPO SCN10A CEP57 BRD4 SMPD1 RPL31 BAX HAX1 CBFB CEBPA FANCE DKC1 XRCC4 ANAPC1 TRIP13 F13B TERC CALR LZTR1 MLLT10 EP300 RPS17 ERBB3 HP_ABNORMAL_BASOPHIL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BASOPHIL_MORPHOLOGY BACH2 RUNX1 ASXL1 ABL1 BCR SRSF2 TET2 KIT HP_GRANULOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GRANULOCYTOPENIA TAFAZZIN HYOU1 AK2 ELANE SF3B1 RPS28 UNC13D TET2 HP_APLASTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASTIC_ANEMIA PALB2 NBN XIAP RECQL4 SBDS SRP54 DNAJC21 GFI1 NOP10 TERT TINF2 GATA2 SH2D1A ANAPC1 ELANE EFL1 TERC CD27 FANCB HOXA11 IFNG NHP2 TCIRG1 ACD PRF1 SRP72 HP_RENAL_AMYLOIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_AMYLOIDOSIS B2M SAA1 MEFV COL7A1 SLC7A7 MMP1 NLRP3 HP_ACUTE_KIDNEY_INJURY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_KIDNEY_INJURY CFHR1 LPIN1 CFI DAAM2 CFHR2 RYR1 CD46 CFHR3 CFH SLC26A1 CORIN C3 THBD HELLPAR SLC22A12 FLT1 HNF1B TCN2 STAT2 DGKE STOX1 DZIP1L CCND1 SAA1 PYGM PRPS1 CFB CLCNKA CLCNKB HPRT1 PKHD1 SLC2A9 CACNA1S PIGA BSND ALDOA APRT LDHA HP_VACUOLATED_LYMPHOCYTES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VACUOLATED_LYMPHOCYTES AGA MAN2B1 LYST NEU1 FUCA1 SLC17A5 CLN3 PNPLA2 GLB1 HP_RETICULOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETICULOCYTOSIS CFHR1 SLC4A1 GATA1 CDAN1 NHLRC2 RHAG CFH CDIN1 ABCB6 SPTB UROS ANK1 GYPC EPB41 CPOX PKLR EPB42 RASGRP1 GCLC ABCG8 ADAMTS13 CLCN7 PIEZO1 PFKM G6PD HBB SEC23B CASP10 CUBN FAS PGK1 PRKCD SPTA1 MTTP AMN KCNN4 FASLG CASK KLF1 HBG2 SLC2A1 RHCE CFHR3 RHD PIGA HK1 HP_SIDEROBLASTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SIDEROBLASTIC_ANEMIA FANCF YARS2 XRCC2 FANCB FANCC WFS1 SLX4 HSPA9 FANCA TRNT1 UBE2T BRCA2 ABCB7 PUS1 FANCG FANCE FANCL RAD51 LARS2 BRCA1 PNPO ALAS2 ISCU BRIP1 FANCD2 RFWD3 FANCM ERCC4 PALB2 FANCI SLC19A2 MAD2L2 RAD51C HP_ACANTHOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACANTHOCYTOSIS KCNN4 PANK2 SC5D GATA1 VPS13A SAR1B MTTP XK CAD TOR1A APOB CYP4F22 SPTB HP_ABNORMALITY_OF_COAGULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_COAGULATION FGG SLC4A1 A2ML1 ITGA2B PEX6 PROC GP1BB MYD88 RIT1 SPTB ANO6 RYR1 F7 GGCX STAT2 ACD DPM1 KRAS IDH1 PEX1 TERT F12 RAF1 SLC25A13 PRF1 UNC13D PEX26 RTEL1 TERC FGA F13A1 GFI1B FIP1L1 F11 SERPINF2 EFL1 NHP2 EPB42 F9 CBL PEX3 ATP6V0A2 STXBP2 MAP2K1 GP1BA HELLPAR AGA NABP1 RBM8A TEK PTPN11 PEX10 LMAN1 PEX12 GPR35 SOS2 MCFD2 MGAT2 RARA BCOR BCS1L SOS1 NR1H4 DLD PTH1R SSR4 TRMU HMGCL NGLY1 F8 NRAS TCF4 F5 ANK1 STX11 PEX16 DOLK PEX5 NLRC4 TFAM PARN MPDU1 CYP7B1 RINT1 DKC1 ALG6 COX16 NOP10 TBL1XR1 STIM1 SLC37A4 DPAGT1 CACNA1S AHCY UQCRFS1 SRD5A3 DPM2 SERPINC1 CFH MPI HAVCR2 COG4 ALDOB TINF2 ACAD9 BRAF SEMA4D SLC7A7 DDOST NPM1 GALT PEX19 RRAS2 RFT1 ATP6V1A ABCD3 ALG12 NUMA1 PML IRF2BP2 SERPINE1 XIAP HLA-DQB1 HRG PEX11B GATA6 ALG2 COG8 FAH MCM10 ALG8 FGB SHOC2 THBD VWF SERAC1 DAAM2 ZBTB16 SLC30A10 PLG RRAS ITGB3 PROS1 F2 HSD3B7 HADH KLKB1 AGGF1 PGM1 GATA2 F13B OSTM1 NBAS B4GALT1 ORAI1 PMM2 IKZF5 AKR1D1 SLC25A15 MICOS13 ABCC2 LYST HSD17B10 VPS33A MRAS GNA14 HBB NBEAL2 MST1 PEX2 LZTR1 IDH2 WRAP53 STAT5B PEX13 USB1 F10 GP9 FLNA GNE VKORC1 PRKAR1A ATP6V1E1 SPTA1 LARS1 PEX14 HLA-DQA1 MTTP CTC1 RASA2 PET100 CFI AMACR STAT3 CD46 HP_REDUCED_FACTOR_XI_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_FACTOR_XI_ACTIVITY PMM2 LZTR1 MGAT2 NGLY1 F11 ALG6 SOS1 ALG8 MPI ALG12 HP_NONSPHEROCYTIC_HEMOLYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NONSPHEROCYTIC_HEMOLYTIC_ANEMIA HBA1 ALDOA HBB SLC4A1 KCNN4 PIEZO1 HBA2 GPI BPGM HK1 HP_HYPOCHROMIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCHROMIC_ANEMIA CASP10 KARS1 IREB2 HLA-DQB1 IRX5 TF HBB CLCNKB CLPX EIF2AK3 TMPRSS6 C2orf69 ATRX APC HYOU1 GALNT2 DAXX ZNF699 FOXP3 WAS FAS KCNE1 ELMO2 STK11 MMP1 KCNQ1 HLA-DQA1 FASLG SHPK FGF23 TRNT1 COL2A1 COL7A1 SF3B1 DNAJC19 ABCB7 PUS1 HBA1 TET2 ALAS2 FN1 ABCD3 CD55 HBA2 SLC12A3 TGFB1 LPIN2 CP GATA1 PLA2G4A HP_SUBCUTANEOUS_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBCUTANEOUS_HEMORRHAGE CFHR1 ITGA2B ATP7A TENT5A C1R COL1A1 ENPP1 B3GALT6 ATRX GP1BB MYD88 CFH ENG HLA-DPA1 F7 NBEAL2 FBN1 TNFRSF13B FOXE3 C2 C4A MPL ICOS SH2B3 CD81 NTRK1 EPHB2 PDGFRB OCLN COL1A2 F13A1 GFI1B FAS FANCA TNXB FIP1L1 SLC20A2 PRKACG TGFB2 SERPINF2 RUNX1 HPS1 TGFB3 FANCC STXBP2 MAP2K1 SMAD3 GP1BA NABP1 PTPN11 ZNF469 LMAN1 TNFSF11 MCFD2 BLOC1S3 CD109 SBDS TFR2 RARA PRF1 HPS4 ITGB3 PLAU JAK2 SNX10 BCOR TGFBR1 NFIX MAPK1 ACVRL1 SLFN14 CLCN7 HEY2 CHST14 CD19 MYLK GATA1 USP8 ANKRD26 F8 AIP STX11 CBS LOX SIK3 PLEC PLOD1 IFNG TBL1XR1 ABCC6 STIM1 SLC37A4 MTAP WAS ELN GNAS PEPD ADA2 DSE PROC ATP7B TNFSF12 HLA-DPB1 BRAF DTNBP1 MFAP5 HBA2 COL3A1 GSN SLC35A1 GDF2 PTEN ETV6 XPR1 AEBP1 COL5A2 FKBP14 NEU1 SCARB2 ITGA2 NUMA1 FCGR2C PML IRF2BP2 NFKB1 JAM2 C1S SERPINE1 SMAD4 CASP10 SEC24C KDELR2 TGFBR2 FLNA PRTN3 NFKB2 LCP2 COMT COL5A1 FYB1 F5 GBA JMJD1C SLC2A10 RASGRP1 COG8 GGCX MYH11 CALR TET2 UNC13D PDGFB PDE11A VWF NLRP3 ETHE1 RIN2 CR2 MBTPS2 SOS1 ZBTB16 P2RY12 PROS1 SAMD9 LYST FANCD2 ACTA2 FERMT3 PRKACA HOXA11 GATA2 CFHR3 F13B HIRA NPM1 HPS3 SLC39A13 ORAI1 TBX1 PRDM5 ARL6IP6 SMAD2 F2 PRKG1 ADAMTS2 WIPF1 UFD1 GNA14 GP6 MAT2A HBA1 HPS5 ACP5 STAT5B FANCE TNFRSF13C MYORG GP9 MS4A1 PRKAR1A PTPN22 PRKCD TCIRG1 ARMC5 USP18 ARVCF MYH9 TERC FASLG TBXA2R TERT MVK RREB1 APOE CDH23 PLOD3 RAB27A BLOC1S5 CTLA4 HPS6 STAT3 F10 TREX1 TNFRSF1A KRAS HP_PERSISTENT_BLEEDING_AFTER_TRAUMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERSISTENT_BLEEDING_AFTER_TRAUMA SERPINF2 GATA1 VWF F8 F9 P2RY12 F5 F13A1 MCFD2 SERPINE1 F13B HP_MICROCYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROCYTIC_ANEMIA KARS1 IREB2 IRX5 ATRX HBB ENG SLC25A21 SLC35C1 TMPRSS6 C2orf69 HBG1 FARSA RIPK1 WIPF1 HBD CAT WAS FECH HBA1 SLC29A3 SRD5A3 FDX2 SMAD4 LPIN2 SMPD1 SHPK TRNT1 HBA2 TEK SLC25A10 DNAJC19 ABCB7 PUS1 GDF2 AGGF1 TKFC ALAS2 ACVRL1 PSMB8 CP PSTPIP1 HP_MICROANGIOPATHIC_HEMOLYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROANGIOPATHIC_HEMOLYTIC_ANEMIA CFHR1 STAT4 CFI CFB CD46 CFH C3 THBD CFHR3 HELLPAR SPP1 IRAK1 ADAMTS13 HP_METABOLIC_ACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METABOLIC_ACIDOSIS MCCC1 HSD17B10 HNF4A SLC25A3 HPD VPS33B NEUROG3 SLC2A2 NDUFA9 HIBCH KLHL3 CLCNKB BTD VIPAS39 MMAA CA5A RYR1 ATP6V1B1 HNF1B UQCRB HLCS SLC37A4 NDUFAF6 SCNN1G STX3 MMACHC COX14 COQ2 FBXL4 AGXT FAH COA8 SCNN1A C1QBP PHKA2 MTO1 FBP1 SLC4A1 IVD NDUFS7 CLDN16 CYP11B2 GSS COX10 CPT2 COA6 ACADVL MCCC2 CAD PNPO MRPS28 NDUFB11 PLPBP NOTCH2 NDUFA2 IBA57 MT-TN GLYCTK CTNS JAG1 TANGO2 WNK4 PC UQCC2 SCO2 OCRL CA2 SCNN1B UQCRC2 POLG2 SLC52A1 NDUFA6 SCO1 WNK1 FN1 DPYS KCNJ5 BCS1L CPT1A SLC5A1 AUH PDSS2 HMGCL KYNU SLC34A1 MCEE NDUFB10 PHKG2 EHHADH ACADS SLC25A19 LRPPRC MMAB MRPS22 CUL3 NADK2 ATP6V0A4 PDHX NDUFS2 PPA2 CACNA1S SLC4A4 ALDH6A1 PCCB NFS1 NDUFAF3 NDUFB8 SURF1 MLYCD LCT GATA3 GALT MT-TS1 ALDOB OGDH PCCA NDUFAF8 GATM DLD NDUFAF4 PET100 FH NDUFAF1 GK TUFM PRDX1 COX6B1 GFM1 MMUT ACADM INVS NR3C2 NDUFV1 SLC12A3 ACAT1 MYO5B RMND1 MRPL3 GCDH PIGA PLVAP EPG5 HP_DEHYDRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEHYDRATION ACAD8 VPS33B CYP11A1 NEUROG3 KCNJ1 MMAA SLC12A1 EIF2AK3 SDR9C7 NDUFAF6 SCNN1G STX3 SPINK5 IGLL1 CDKN2B DBH SCNN1A ZFP57 CDKN1B LAMB3 IVD HYMAI MMACHC ALOXE3 CD79B NIPAL4 GCK MRPS28 ALOX12B CYP24A1 AVPR2 MYO5B ABCC8 BSND AQP2 EGFR ABCA12 CYP11B2 CTNS CA12 TGM1 SULT2B1 SCNN1B KCNJ11 PDX1 STAT3 PLAGL1 NLRP3 SLC5A1 SLC34A1 EPCAM HMGCL MCEE BLNK ATP1A2 EHHADH MMAB NR0B1 ATP6V0A4 IGHM INS CLCNKB LIPN LRRC8A SLC26A3 FCGR2A PCCB AK2 LAMC2 CFTR LCT SLC1A3 CACNA1A CDKN2C TGFB1 PCCA CYP4F22 ACAT1 TCF3 MEN1 UNC45A PKHD1 CDKN1A GATM ATP1A3 PIK3R1 LAMA3 ACSF3 CD79A HSD3B2 MMUT CLCNKA NR3C2 SLC5A2 OCRL HP_FEVER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEVER SLC4A1 SH3KBP1 HBB CFH NTRK1 MYO1E HLA-DPA1 SLC12A1 LACC1 IFNGR1 GAA VANGL2 PTPN22 MT-ND6 LAMB3 SH2B3 CYP11B2 CCR1 MEFV TNFAIP3 CHEK2 AVPR2 FIP1L1 HMBS SPTBN1 AQP2 DCLRE1C FAS MT-TS2 P4HA2 NLRP3 TRIM28 MT-ND1 IL7R IL2RG IFIH1 SAMHD1 BACH2 ZFHX2 MT-ND4 BCOR LBR MYD88 CYBB HMGCL PTPRO NKX2-1 MT-ND2 HLA-B SRP54 PSTPIP1 MAGI2 FBP1 STAT6 MPL TBC1D8B ZNF699 CACNA1S RANBP2 STAT4 JAK2 WDR1 AK2 LAMC2 SCNN1B HLA-DRB1 HAVCR2 TRAF3 BTK ERCC4 GCH1 HNRNPK CD79A ERAP1 LIPA MT-TW WT1 INF2 POU6F2 SRSF2 UBA1 ADAR PRKCD PML ARHGDIA RNF168 SLC5A1 XIAP ORAI1 BCR GYPC MT-ND5 EPB41 EIF2AK3 IL23R IGLL1 NAB2 ACTN4 NPHS1 ERCC5 CD247 BIRC3 F5 TLR3 RAG2 G6PD CD244 CIITA SLC29A3 TREX1 HEPHL1 PRF1 GALC IL10 LPIN1 DAAM2 CD2AP TRIP13 NPHS2 ZBTB16 CFTR IRAK1 NOD2 TSPOAP1 MT-TK PSMB9 CASK UNC93B1 CD27 CFHR3 LPIN2 MIF PSMB8 CYBA PTPN2 PMM2 SLC22A4 NUP205 ABCC6 TET2 TSC2 MALT1 STAT3 ABCC2 CCND1 C2orf69 LYST NCF1 PRNP TMEM165 IL6 STAT5B MTHFR IL36RN ABL1 MT-TF PRKAR1A SPTA1 RUNX1 BCAP31 MT-TQ PRSS2 PMP22 LIG4 ANKFY1 POMP PTPN3 RAB27A ATP1A2 COQ8B CTLA4 PSAP CALR BCL10 CFHR1 NUP133 MT-TS1 GFI1 UBAC2 SPTB KCNJ1 NUP37 STAT2 PRSS1 BCL6 KIT UNC13D KLRC4 ATM COL1A1 NUP160 C4A PKHD1 OTULIN IBA57 MT-ND3 PTS EPB42 KRT8 NLRP12 STXBP2 FCGR3B ANLN NABP1 TRNT1 GPR35 NLRP1 QDPR RAG1 RARA COL4A3 NUP85 CD70 EIF2B5 NCF2 SYK TH TLR4 MLX ASXL1 MT-TH SCNN1A PAX2 IRF8 LIFR GLA TSC1 STING1 TCF4 ANK1 TBK1 CYBC1 STX11 SLC34A2 ANKRD55 NLRC4 TP53 SCYL1 AVP GAPVD1 MT-CO1 CACNA1A P4HTM SLC12A3 TBL1XR1 RNASEH2B XPA LRRC8A CHD7 TNFRSF1A IL12A-AS1 EDA ADA2 MVK IFNG CYP21A2 CD3E EIF2B2 RYR1 HLA-DPB1 RB1 ERCC2 SEMA4D XPC NCF4 IKZF1 PSMB4 SLC19A3 PIK3R1 LAMA3 DDB2 ITK EMP2 TCIRG1 NUMA1 ATP13A2 IRF2BP2 PLCE1 ENPP1 PRTN3 RNASEH2C NFKBIL1 MT-TL1 NGLY1 SLC35C1 RIPK1 WAS NUP93 MCM10 SPINK1 MT-ATP6 CD79B ELP1 RNASEH2A ELANE TICAM1 APOL1 CTRC SCNN1G IL2RB IL2RA KLHL7 MT-CO2 DST CRB2 PSMB10 EIF2B1 BTNL2 NUP107 IL12B TRPC6 GATA2 KRT18 NPM1 SPP1 CR2 KIF1B SLC11A1 BLNK MT-CO3 COG6 POLR3A PEX6 IL12A WIPF1 ADAMTS13 ATP1A3 IGHM ERCC3 MST1 BCL2 REST EIF2B4 H19 ALDOA FOXP1 CPT2 ADA CRLF1 NGF TCF3 DIS3L2 ARHGAP24 MT-TV MT-CYB ASAH1 CD3D PSMG2 RMRP GPC3 EIF2B3 ACAT1 BRCA2 HTR1A ALPL STIM1 HP_KETOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KETOSIS PHKG2 SHOX GYS2 KARS1 HNF4A CYC1 OXCT1 BCKDHB CLCNKB BTD MMAA CA5A EIF2AK3 PLAGL1 SLC37A4 FBP1 POLG SUGCT ATP5F1D MMAB INS PHKA2 IVD HYMAI HNF1A PPP1R15B MCCC2 BCKDHA TRMT10A KCNJ11 MLYCD INSR TWNK PAX4 PYGL GHSR ACADM ACAT1 ACSF3 POLG2 RRM2B POLR3K GK ABCC8 COX6B1 MMUT SLC25A4 ITPR3 IL6 PTPN22 SLC5A2 SLC12A3 ZFP57 MRPL3 GCDH SLC16A1 DBT HP_RENAL_TUBULAR_ACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_TUBULAR_ACIDOSIS HNF4A PHKG2 VPS33B SLC2A2 CTNS CLCNKB VIPAS39 ATP6V1B1 HNF1B NDUFAF6 EHHADH COQ2 FBXL4 NADK2 FAH COA8 PHKA2 ATP6V0A4 SLC4A1 CLDN16 CYP11B2 NDUFS2 CPT1A SLC4A4 CAD NDUFAF3 NOTCH2 SURF1 MT-TN GATA3 MT-TS1 JAG1 GATM PC UQCC2 NDUFB8 SCO2 OCRL CA2 BCS1L FN1 SLC12A3 RMND1 PIGA EPG5 ALDOB PDSS2 KYNU SLC34A1 HP_ALKALOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALKALOSIS CACNA1D CLCNKB USP8 SCNN1G HSD11B2 SLC25A15 KCNJ1 ASL CA5A AIP NR3C1 SLC12A1 CLCN2 OTC IKZF1 HLA-B SARS2 SCNN1A CYP17A1 CPS1 KCNJ5 KCNJ10 SLC12A3 BSND CLCNKA NARS2 SLC26A3 SCNN1B ASS1 HP_HYPOKALEMIC_ALKALOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOKALEMIC_ALKALOSIS CYP17A1 CLCNKB SLC12A3 BSND CLCNKA HSD11B2 KCNJ1 KCNJ10 SLC12A1 SCNN1B IKZF1 HLA-B HP_RESPIRATORY_ALKALOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_ALKALOSIS CPS1 OTC ASS1 SLC25A15 ASL CA5A HP_GLUCOSE_INTOLERANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLUCOSE_INTOLERANCE PPARG PROM1 OPA1 HMGA2 GTF2I NEUROG3 SIX3 HBB ARNT2 MAFA NEUROD1 INS PCARE LRP6 HERC2 WRN HNF1B LMNA VANGL2 FGFR1 MT-ND6 ARL6 BLK MT-CO2 YIPF5 TERT CPA1 MT-TV FOS IGF2BP2 NDP HNF1A HYMAI MT-TK GPR101 KCNJ11 TP53 OFD1 MOG LIPE GLI2 IDH3B ZIC2 CISD2 INSR CAVIN1 IER3IP1 HFE NHP2 AGPAT2 CTNS MT-TS2 DLK1 AIP IFIH1 SAMHD1 POLG2 DCAF17 ABCC8 PLAGL1 TBL2 STAT3 KIAA1549 IDH3A PLCD1 SAG RGR PAX6 PRPF31 IL6 PROKR2 PSTPIP1 CRX MIA3 GLRX5 CDON CARS1 PRPH2 NDUFAF3 IMPG2 TOPORS MT-TL1 PARN GUCA1B PDX1 NDN BBS1 SHH DKC1 FOXH1 ALMS1 ZFYVE26 IFT88 PROK2 MT-TW PAX4 PALLD BRCA1 GLIS3 FOXRED1 NCF1 REEP6 TINF2 HNF4A SPATA7 CNGB1 NODAL MT-TE ARHGEF18 DNAJC30 AKT2 SEMA4A MT-ND1 DISP1 PTPN1 RRM2B NDUFB9 SOX3 AEBP1 APOA5 MT-TC SNRPN FGF8 GCK NDUFS8 ADAR BCL7B ZFP57 CNOT1 WFS1 ATM POC1A ROM1 HLA-DQB1 GATA3 PEX10 PDE4D CDKN2A BRCA2 EIF2AK3 FLT1 ARL3 PNPLA2 NSMCE2 IRS2 NDUFAF4 GJB4 MC4R IL2RA IARS1 DMPK STAT1 MT-TF NDUFAF2 UBR1 NSD1 SPINK1 NDUFV2 USH2A ELN TTPA SLC29A3 MAGEL2 TREX1 PDE6G EIF4H LMNB2 CEL CRB1 MKKS ITCH TULP1 MAK FOXP3 NKX2-5 CTNNB1 SOX2 CFTR LIG4 FUZ MED13L DNM1L BBS2 CNGA1 ESR1 FSCN2 MT-ND2 NDUFAF5 KCTD1 STIL APOE BUD23 SRP54 DHX38 MTX2 PDE8B CEP19 VANGL1 KLHL7 SNORD116-1 CPE PSMB8 MT-TS1 CLDN3 PRKAR1A BSCL2 PIK3R1 APPL1 NDUFS2 IGF1R KIZ TTC8 RLBP1 RPE65 RETN XRCC4 LRBA NDUFA1 NDUFS4 PWRN1 TCF7L2 SMAD4 MTHFR MKRN3 LEMD3 MEG3 PRPF6 PWAR1 NUBPL NDUFS3 RDH12 CFAP418 TUB PRPF4 MT-TQ PRSS2 SLC40A1 TDGF1 CTC1 SLC2A2 SARS2 RP2 PPP1R3A HMGA1 RTL1 RBP3 DLL1 FAM161A CDH23 TTC7A IL18BP TMEM270 KRAS POMGNT1 MMP2 PALB2 LEPR SUFU CASR SIM1 DMXL2 GDF1 SMPD4 CA4 GTF2IRD1 ARL2BP PRSS1 NDUFS7 PDE6A ELMO2 EIF2S3 TERC TRMT10A LEP NDUFS1 PTF1A EYS PRPF3 FCGR3B DHDDS POLA1 CCDC28B GPR35 RAC1 PRCD FOXC2 IMPDH1 SBDS SLC19A2 GATA6 TGIF1 RPGR LMF1 PTPN22 METTL27 NR2E3 BLM COL2A1 PLIN1 MT-TH PDE6B SLC5A1 BRAF DNAJC3 NOTCH3 RHO GJB3 CAV1 USP8 TCF4 EDA ZBTB20 MT-ND5 CAT MT-CO1 LIPC PCNT NOP10 ENPP1 RNASEH2B PPP1R15B WT1 RP9 ADA2 ZMPSTE24 TKT OCA2 PEX6 FXN DNAJC21 RFC2 ZNF408 NDUFA6 SEMA4D NDUFB10 AIRE SCAPER RP1 MAPK8IP1 EFL1 NDUFV1 NPM1 CTRC CERKL FOXP1 AGBL5 FBN1 MTNR1B SLC25A4 SLC12A3 NDUFAF1 MT-ND4 GNAS GAS1 SLC30A8 SLC7A14 ABCA4 MEN1 AMACR RNASEH2C CLCNKB CLIP2 POLG GCGR MT-ATP6 CNBP ABHD11 LRAT AR RNASEH2A IFT172 RABL3 POLD1 HESX1 GJA1 LAT2 NDUFB11 HLA-DRB1 STX1A BMP2 PRPF8 CORIN HGSNAT NDUFA11 NRL IFT140 ABCB4 HJV STOX1 AHI1 MLXIPL PRKACA CYP19A1 GPD2 CDHR1 TWNK BEST1 ZNF513 LIMK1 CP MMP14 PEX1 PCBD1 BAZ1B KLF11 NDUFAF8 MT-CO3 PDE11A POLR3A OTX2 MT-ND3 MERTK ALAS2 IRS1 NDUFS6 CLRN1 SNRNP200 RTEL1 NEK2 AHR MST1 LHX1 PTRH2 WRAP53 PTCH1 TIMMDC1 USB1 HAMP GTF2IRD2 STUB1 MT-CYB RP1L1 FMR1 ARMC5 HLA-DQA1 FKBP6 CLDN4 NPAP1 VPS37D PNPLA6 EDA2R ITPR3 CIDEC NDUFB3 KDSR TMEM126B SNORD115-1 HP_DIABETIC_KETOACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIABETIC_KETOACIDOSIS SLC12A3 ZFP57 ABCC8 PLAGL1 KCNJ11 INS HYMAI CLCNKB INSR HP_RECURRENT_FEVER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_FEVER XIAP SH3KBP1 STING1 LIFR HBB ORAI1 NTRK1 COG6 SLC35C1 LACC1 C2orf69 PEX6 RIPK1 STAT2 NLRC4 STX11 SLC12A3 MEFV CYP11B2 PRF1 ELP1 ELANE TNFAIP3 SLC29A3 TNFRSF1A WDR1 HEPHL1 ADA2 MVK CYP21A2 OTULIN HNRNPK SPTBN1 IBA57 GALC PTS LPIN2 BCAP31 NLRP12 NOD2 NLRP3 CRLF1 NGF TRNT1 IL2RG NLRP1 GCH1 PSMB4 PMP22 PSMB9 QDPR ITK ZFHX2 CD70 ASAH1 PSMG2 SYK STXBP2 UBA1 PRKCD PSMB8 STIM1 RNF168 HP_UNEXPLAINED_FEVERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNEXPLAINED_FEVERS NKX2-1 LAMB3 TMEM165 RNASEH2C RNASEH2B NTRK1 RNASEH2A ADAR TREX1 PSAP GALC LAMC2 IFIH1 LAMA3 AQP2 AVPR2 SAMHD1 HP_TRUNCAL_OBESITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRUNCAL_OBESITY HDAC8 IGF1R ALMS1 POMC TRAPPC9 ZBTB20 ARL6 CREBBP MC4R MAN1B1 INPP5E BBS1 XRCC4 RNPC3 SLC10A7 PCNT SMC3 IGFALS PDE11A AKT2 BBS9 IGF1 ADNP DLK1 SMC1A WAC GNAS THOC2 MEG3 XYLT1 SLC7A7 VPS13B ARMC5 PHF6 CCDC28B USP8 BPTF PRKAR1A BRD4 LAS1L RTL1 FMR1 CDH23 EP300 PSMD12 GHR NIPBL DYRK1B PCSK1 RAD21 HP_NONKETOTIC_HYPOGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NONKETOTIC_HYPOGLYCEMIA GREB1L HMGCL CPT2 MEN1 ACADVL FGF20 YY1 RET ITGA8 AKT2 ACAD9 HP_HYPOKALEMIC_METABOLIC_ALKALOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOKALEMIC_METABOLIC_ALKALOSIS CLCNKB BSND CLCNKA HSD11B2 KCNJ1 KCNJ10 SLC12A1 IKZF1 HLA-B HP_HYPOPLASTIC_HEART http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_HEART CRELD1 TBX1 ZNF148 NR2F2 ARHGAP31 WT1 TBX5 GATA4 FOXF1 PKD1L1 TRAF7 MCTP2 NKX2-5 SMAD6 NADSYN1 DVL3 FLI1 CHRND SPOP GJA1 STAG2 MYRF CHRNA1 MKKS B3GLCT PAH COQ4 GATA6 GATA5 CCDC22 WASHC5 DTNA NOTCH1 CHRNG CDK8 HAAO KYNU HP_PALPITATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALPITATIONS CRELD1 JUP SDHD PKP2 KCNE2 MYL3 ABCC8 KCNJ2 CLCNKB KCNJ18 CACNA2D1 POLG GCGR CNBP VHL MEN1 SCN5A KCND3 HNF1A NPPA TP53 TMEM43 YY1 DAXX JPH2 PRKAG2 UCP2 MYH6 SDHB CAV3 KCNH2 TMEM127 GATA6 KCNQ1 NKX2-5 POLG2 TBX20 KIF1B RET CACNA1S TLL1 GATA4 KCNJ11 ISCU SCN9A GABRA3 TET2 SDHC ATRX PNPLA2 SLC12A3 CDH23 DLST CDH2 NR2F2 EPAS1 SDHA MAX MYL4 FH TWNK GYG1 KCNJ5 CITED2 MYL2 DNMT3A SLC25A11 RRM2B SDHAF2 BVES KCNA5 ACTC1 SLC25A4 DSC2 DSG2 NF1 MDH2 HP_APLASIA_HYPOPLASIA_OF_METATARSAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_METATARSAL_BONES SMARCA2 GNAS HOXA13 TRPS1 NPR2 TCF4 PDE4D TRPV4 FGFR2 RBPJ LMBR1 SALL1 MAP3K7 PTHLH SLC26A2 DYM FAT4 PIK3CD RSPRY1 SIL1 FGFR1 PIGS BMPR1B HEPHL1 WNT7A TP63 PRMT7 FLNA RAB33B COL2A1 PHYH VPS13B GDF5 DCHS1 HOXD13 VPS35L LZTFL1 PRKAR1A PEX7 B3GLCT FLNB SRY KNSTRN COG4 PORCN HINT1 RIPK4 CANT1 FBN1 HDAC4 CHSY1 KCNJ2 EZH2 TWIST1 IFT52 POC1A HP_ABNORMAL_SCALP_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SCALP_MORPHOLOGY A2ML1 HDAC8 SATB1 GNB2 NTRK1 ALX3 KCNJ8 UROS ADA2 ITGB6 KRAS FLI1 TECPR2 VPS51 CDH1 RBBP8 APC EBP FOS SPOP RTEL1 COL17A1 CDH3 TERT ECM1 CAVIN1 BRAF GATA1 AGPAT2 CBL RAB18 MAP2K1 XYLT2 KREMEN1 GDF6 SIN3A SOS2 EFNB1 LSS PRKD1 CENPE AIFM1 SOS1 RPS27 ATP6V1B2 MAP2K2 SYT1 MEIS2 FIG4 NRAS CTBP1 ACTB RPS20 SMARCC2 HSPG2 KANK2 WNT4 CPOX MADD ITGB4 NANS PPP1CB VAC14 ZNF699 ADNP AHSG DOCK7 FGFR3 ERCC2 FGFRL1 DPM2 PEPD EXT1 RPS29 CPLX1 TP63 RPS10 HUWE1 INSR DSG4 RPL26 APCDD1 BRCA1 UROD PIK3C2A DPH1 CDH2 RRAS2 ZIC1 COG5 UBE2A FGFR2 OCRL GTF2H5 PPARG RPS24 ARID1A CHN1 RAD21 SLC39A4 TBL1XR1 PTPN11 BICRA ARID2 SPECC1L RERE SLC9A7 B3GAT3 RPL27 POLR1D SLC35C1 NOP10 RAB3GAP2 AXIN2 RECQL4 PGAP1 MPLKIP LAMA3 KRT17 GDF11 MBTPS2 SRCAP UBR1 NSD1 NOVA2 ANTXR1 NECTIN4 SHOC2 ARID1B WBP11 NOTCH2 AEBP1 NIPBL STAG2 PACS1 RIN2 KIFBP LIPH NSUN2 RRAS LIG4 RPL15 PARN SETD2 MYH3 POLR1B KCTD1 BRD4 TARS1 ALX4 PLK4 PTPN22 PIK3CD BSCL2 PIGK TBC1D24 SLC12A6 SETD5 LAMC2 ODC1 IGF1R PHF8 CREBBP TBX15 GTF2E2 KAT6B SNRPE SMARCA4 RPL31 SMC1A B4GALT7 MSX2 ERMARD MAB21L1 SLC29A3 POLR1C HPGD TBC1D20 KCNH1 XRCC4 LETM1 EDARADD TAF6 CLDN1 SRY SLC27A4 FGD1 VPS13B TINF2 TTC7A EIF5A LZTR1 EP300 EDEM3 NF1 DSC3 RPS17 SMARCB1 SOX11 HS2ST1 NSD2 SMARCA2 RPS28 GJB6 SMPD4 RPS15A CNOT3 DLX4 EPS8L3 RIT1 MAFB MEOX1 SLCO2A1 POLR3A KNSTRN HLA-DRA RPL18 ACD SPINK5 SLC25A24 SPEN RAF1 ATRIP CHRNG KRT74 SOX18 RPL35 TWIST2 TRMT10A RPL35A EMC1 LMX1B KDM1A ANKRD11 SMC3 TCOF1 ALX1 CHST3 NELFA LRPPRC PLEC FAS MID1 ADARB1 TSR2 ACTG1 APC2 LAMB3 MGAT2 DPF2 KLHL24 RNF113A TMCO1 MAPK1 ALDOA IRX5 TBX2 HDAC4 ZC4H2 TWIST1 CWC27 TRAIP CDSN ZBTB20 FRMD4A MAF PCNT CBS RPL5 DOCK6 NFIX ERCC3 PPP1R15B ATR RHOA TFAP2A MED13L INTU ADAM17 KDM4B MMP1 RPS26 GNE PEX6 TRPS1 SVBP KRT14 CCNK SMARCD1 LMNA MED25 PIGG COG7 SOX4 WRN ITGA3 THOC6 LPAR6 SH2B1 DKC1 PCGF2 TCF12 NHP2 SMARCE1 IFIH1 MAN2B1 COL3A1 NBN CCDC22 NEPRO CEP152 EGFR B3GALT6 SPRED1 RPS19 GJB2 RPS7 MYO18B ASXL1 ANKRD17 SALL4 HR WASHC5 PEX1 FRAS1 RPL11 ABCC9 UGP2 ARX ALG9 RNU4ATAC MRAS VPS33A WNT10A TSC1 RIPK4 KCNN3 GDF3 LRP2 NOTCH3 IGF1 CENPJ RALGAPA1 KRT25 CAV1 ALG12 PEX19 JUP PTDSS1 COL7A1 RASA2 RAB3GAP1 RPL21 MAP3K7 HP_ABNORMAL_GLOMERULAR_MESANGIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GLOMERULAR_MESANGIUM_MORPHOLOGY WT1 PLCE1 NUP133 NUP205 AVIL CFHR2 ARHGDIA WDR73 CFHR3 MYO1E NUP107 NUP37 NUP93 MAGI2 ACTN4 NPHS1 GAPVD1 KIRREL1 TBC1D8B APOL1 NUP160 LAMB2 APOE SPRY2 DAAM2 OSGEP CD2AP CRB2 NPHS2 SGPL1 ANLN FN1 TP53RK ARHGAP24 ANKFY1 COL4A3 INF2 NUP85 TRPC6 CD81 EMP2 COQ8B ADA COPA PAX2 COQ6 PTPRO HP_DIFFUSE_MESANGIAL_SCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFUSE_MESANGIAL_SCLEROSIS WT1 PLCE1 NUP133 NUP205 NUP107 AVIL DAAM2 OSGEP CD2AP CRB2 ARHGDIA WDR73 NPHS2 SGPL1 MYO1E ANLN NUP37 NUP93 NPHS1 MAGI2 TP53RK ARHGAP24 ACTN4 GAPVD1 ANKFY1 COL4A3 INF2 NUP85 TRPC6 TBC1D8B EMP2 APOL1 COQ8B ADA NUP160 LAMB2 PAX2 COQ6 PTPRO HP_TUBULOINTERSTITIAL_NEPHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TUBULOINTERSTITIAL_NEPHRITIS IFT122 PUS3 CLCNKB BTNL2 ALMS1 SLC7A7 SLC30A9 MUC1 DPH1 COQ2 FOXC2 WDR19 FAN1 MMUT CEP83 CPT2 INVS FOXP3 SLC12A3 BCS1L TRAF3IP1 MRPL3 PDSS2 HLA-DRB1 HP_HYPERSPLENISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERSPLENISM PRKCD ITCH SMPD1 RUNX1 HBB FAS SRSF2 PKHD1 SCARB2 GBA CASP10 LIPA TET2 CBL NOTCH1 PSAP RASGRP1 FASLG DZIP1L ASXL1 HP_MACROCYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROCYTIC_ANEMIA SLC46A1 MTRR AMN RPS28 CDAN1 RPL11 RHAG HLA-DQB1 RPS15A UMPS TSR2 RPL27 ADA2 SLC19A1 SFXN4 FTCD RPL18 RPL5 RPS14 MMACHC RPS20 MMADHC RPL31 CUBN COX10 RPL35 PHGDH RPL35A RPS7 LMBRD1 RPS29 RPS10 LARS1 HPRT1 GATA1 RPS17 RPS26 DNAJC21 RPS24 WFS1 HLA-DQA1 RPL15 RPL26 TCN2 KCNN4 CBLIF PIEZO1 RAC2 TET2 EFL1 RPS19 DNM1L SBDS SLC19A2 PRDX1 SLC4A1 DHFR SRP54 RHCE RMRP MTHFD1 UBA1 ALAS2 OPA1 RPS27 RHD MTR HP_AUTOIMMUNE_THROMBOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTOIMMUNE_THROMBOCYTOPENIA CASP10 NRAS NFKB2 ACP5 RASGRP1 SOCS1 TNFSF12 KMT2D MAGT1 TNFRSF13B CTLA4 KRAS PNP CIITA SMPD1 LRBA ICOS CD81 ZAP70 FOXP3 TNFRSF13C FAS MS4A1 RFXANK PRKCD GALC KDM6A CR2 TPP2 FASLG RFXAP IL7R RFX5 LAT ITK ARHGEF1 STAT1 ADA STAT3 NFKB1 CD19 HP_LEUKOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEUKOCYTOSIS CASP10 RNU4ATAC NRAS SALL4 ZPR1 HBB RAG1 BCR GFI1 SLC35C1 EIF2AK3 LACC1 IFNGR1 ZNF341 LMNB2 SREBF1 STAT2 SH2D1A RASGRP1 SLC27A4 KRAS CD247 CALR MVK CPA1 KIT PRSS2 TLR3 RAG2 G6PD SPINK1 CARD9 TICAM1 ZAP70 TET2 MEFV CBL FAS TRAC SPINK5 NLRP3 PKHD1 FIP1L1 OTULIN DCLRE1C PGM3 RUNX1 EXTL3 FOXP3 SRSF2 NLRP12 ZBTB16 SLC46A1 JAK1 BTNL2 NABP1 LIG4 IL7R RAC2 NLRP1 JAK2 CAPN3 FERMT3 CASK CARD11 UNC93B1 PDGFRB RARA GATA2 BCOR IL6ST NPM1 PDGFRA LPIN2 NCKAP1L IL2RG ASXL1 BCL11B PIK3CD HMGCL ANKRD26 SRP54 STAT3 TBK1 IKBKG MPL HYOU1 ELANE DOCK8 TBL1XR1 ITGB2 STAT5B CHD7 CFTR WAS ARPC1B IL36RN ABL1 ADA2 IL37 IFNG HLA-DRB1 PRKAR1A PRKCD CD3E TRAF3 FASLG XRCC4 ADA SF3B1 CTRC RNASEH2B PRSS1 CD3D RMRP TCIRG1 NUMA1 XIAP RBM8A ACAT1 TGFB1 PML IRF2BP2 CASR TNFRSF1A HP_REDUCED_ANTITHROMBIN_III_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_ANTITHROMBIN_III_ACTIVITY PMM2 PGM1 ALG6 ALG8 DPM1 DPAGT1 AHCY SERPINC1 SRD5A3 DPM2 MPI MGAT2 HP_ABNORMAL_THROMBOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THROMBOSIS JAK2 KIF20A PROC HRG PRTN3 HBB ENG UBAC2 HLA-DPA1 PRKAR1A IL23R KIF11 MET PRSS1 PTPN22 SLC2A10 MMACHC IDH1 CALR CPA1 TET2 PRSS2 SCN5A RYR1 NPPA MEFV SPINK1 KCNQ1 MPL CCR1 KLRC4 CTRC MTHFR THBD C4A ADA2 F2 FIP1L1 SH2B3 EPOR MYH7 DAAM2 FAS F9 MYPN P4HA2 ZBTB16 HELLPAR PLAT HLA-B NABP1 CFTR PROS1 AKT1 AGGF1 SERPIND1 RARA EPAS1 PGM1 FGB RASA1 PIEZO1 F13A1 CD55 BCOR FLNC LIPA CBS VHL NPM1 PDGFRA TGFB2 TLR4 NOTCH1 ACVRL1 CTNNB1 ALG6 PTH1R MTRR PMM2 HABP2 TP53 TNNI3 IL10 F5 IL12A MPI NLRC4 RHAG THPO HLA-DRB1 PTEN SAA1 F12 TBL1XR1 IDH2 STAT5B STAT4 NFS1 IL12A-AS1 SERPINC1 TNNT2 CFH SMAD4 HLA-DPB1 GNAQ PIGM FGG KCNN4 CITED2 USP8 BMPR2 CFI GDF2 ERAP1 MT-CYB PRDX1 SLC4A1 PDE4D CDH23 UBA1 CTLA4 FGA NUMA1 FCGR2C STAT3 PML IRF2BP2 TLL1 RFT1 PIGA MYH9 CASR CD46 HP_EXTRAMEDULLARY_HEMATOPOIESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXTRAMEDULLARY_HEMATOPOIESIS HBB SLC4A1 SPTA1 MPL LBR EPB42 VPS45 FGFR2 SPTB TNFSF11 TET2 ANK1 OSTM1 RBM10 JAK2 FERMT3 CA2 CALR HP_SCHISTOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCHISTOCYTOSIS CFHR3 CFHR1 SLC19A1 SC5D CAD TRNT1 SLC4A1 KCNN4 PIEZO1 CFH ADAMTS13 HP_SEA_BLUE_HISTIOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEA_BLUE_HISTIOCYTOSIS NPC1 SMPD1 GLB1 APOE NPC2 HP_HYPOKETOTIC_HYPOGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOKETOTIC_HYPOGLYCEMIA HADHB HNF4A ABCC8 HNF1A HADHA CPT1A HADH CPT2 AKT2 ACADVL KCNJ11 SLC25A20 DOLK UCP2 GCK HP_HYPERTONIC_DEHYDRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTONIC_DEHYDRATION AQP2 SLC5A1 AVPR2 SPINK5 CA12 HP_HYPERAMMONEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERAMMONEMIA MCCC1 HSD17B10 TMEM70 HMGCL SLC25A15 CPS1 CYC1 ARG1 SLC25A20 MCCC2 BTD MMAA ASL SLC25A42 CA5A EIF2AK3 OTC GLUD1 HLCS NAGS ATP5F1D MMAB SLC25A13 PDHB ACADVL RINT1 MMACHC CPT1A PCCA CPT2 ATPAF2 CAD PCCB ASS1 SERAC1 TANGO2 SLC22A5 GLUL SLC7A7 HADHA ACADM ACAD9 MRM2 MMUT HADH MECP2 AASS UQCRC2 TUFM COX6B1 NDUFA6 GOT2 NBAS ACAT1 NR1H4 HADHB DLD HP_RECURRENT_HYPOGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_HYPOGLYCEMIA HMGCL MEN1 YY1 PPP1R15B INSR MRAP UCP2 MC2R PAK1 ALG12 NFKB2 SLC22A5 NAB2 GCK STAT6 HP_FETAL_AKINESIA_SEQUENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FETAL_AKINESIA_SEQUENCE TPM2 LGI4 MUSK RAPSN GLE1 CHRNA1 KLHL41 NEB SLC18A3 DPAGT1 ACTA1 MYOD1 CNTNAP1 MYPN CNTN1 TRPV4 DOK7 KBTBD13 NEK9 GBA NUP88 PIGS KIF5C RYR1 CHRNG MAGEL2 KLHL40 TPM3 ZC4H2 CHRND HP_APLASIA_HYPOPLASIA_OF_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_TOE NSD2 RNU4ATAC MYT1L KMT2E HOXA13 ZMIZ1 CCDC32 GPC4 KCNJ8 RBPJ LMBR1 BMP2 EOGT MYCN DLX5 OFD1 NTNG1 TBX3 WDFY3 PIGV ARSL FGFR2 SMOC1 DCLRE1C PTHLH TNNT3 NELFA NOG SLC12A2 ACVR1 WASF1 PRKAR1A GRIA4 TRPV4 MGP GJA1 ACTL6B KCNMA1 ARID1B BHLHA9 FLNA IL7R HUWE1 FIG4 MIA3 RAG1 HS2ST1 CTBP1 SALL1 BPTF FGFR1 GLI3 DOLK PUS7 PTPN23 UBR7 SALL4 PIGF NEK1 VAC14 ALMS1 SPECC1L CHD7 GPC3 SOX9 FGFRL1 RAG2 WNT10B CPLX1 RLIM COL2A1 IFT122 ACTL6A MAPK8IP3 HPDL BMPR1B PHF6 HOXD13 HBA2 SVBP APC B3GLCT BCORL1 KDM4B HDAC4 PSMD12 PDE4D AGO2 LRP4 PIGG PALS1 JARID2 C12orf57 PTH1R TBL1XR1 ALOX12B SMAD4 RAB3GAP2 SLC26A2 DYRK1A CHSY1 LETM1 SHOX KCNH1 GDF5 TBX22 NOTCH2 WNT7A TRIP12 ABCC9 ROR2 DLL4 TANC2 DHCR7 LMNA MED27 DNMT3A PORCN GNAS BPNT2 KAT6A RIPK4 ASXL1 CNOT3 IL2RG DACT1 TCF20 SF3B4 ARHGAP31 NPR2 KAT8 GPX4 DPYSL5 ALOXE3 IHH ADAMTS2 DDX6 MED13 KMT2A FGFR3 KCNN3 NTNG2 HBA1 PUF60 FLI1 DOCK3 NOTCH1 CTSK ADA DOCK6 HTT GRIP1 RMRP LIG4 COX4I1 TNRC6B ASAH1 TRMT1 CHST11 TRAPPC4 GHR SATB1 FBXW11 MADD HP_ORGANIC_ACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORGANIC_ACIDURIA NDUFS4 CPOX ACAD8 HPD SLC25A20 OXCT1 UROS BTD HGD MMAA TCN2 HLCS PEX1 HCFC1 MMACHC HOGA1 MMADHC MVK AGXT TAT DHTKD1 UROC1 PCCA CPT2 SLC25A1 MCCC2 LMBRD1 HMBS SUCLG1 ETHE1 MPC1 PCCB HADH L2HGDH SUCLA2 SLC52A1 SUGCT ETFA SCO1 MCCC1 HMGCL ETFDH KIF1B ABCD4 MCEE NDUFB10 GCDH ACADS FLAD1 SLC25A19 IDH2 MMAB NADK2 POLG ACADVL GATA1 COX16 ALDH5A1 ETFB SLC25A4 ALAD D2HGDH MLYCD TAFAZZIN SLC52A2 ACAD9 GRHPR ACADM SLC26A1 PPOX RET ACSF3 PRDX1 GATM MMUT DNAJC19 CD320 HP_KETOACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KETOACIDOSIS SHOX HNF4A CYC1 INS PAX4 OXCT1 CLCNKB BTD INSR CA5A ACAT1 EIF2AK3 PLAGL1 SUGCT ATP5F1D ACSF3 GK ABCC8 IVD HYMAI MMUT HNF1A ITPR3 IL6 PTPN22 KCNJ11 MCCC2 SLC12A3 ZFP57 MRPL3 SLC16A1 HP_RENAL_FANCONI_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_FANCONI_SYNDROME MT-TN FAH COA8 HNF4A BCS1L CTNS MT-TS1 CLCNKB SLC12A3 HNF1B PIGA OCRL SURF1 HP_HYPERCHLOREMIC_ACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERCHLOREMIC_ACIDOSIS CUL3 GALT CTNS NEUROG3 KLHL3 WNK1 SLC4A4 GATM WNK4 SLC4A1 NDUFAF6 EHHADH SLC34A1 HP_GOUT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GOUT SLC4A1 SPTA1 HPRT1 EPB42 SPTB CLCNKB ANK1 LRP6 SLC37A4 MUC1 PRPS1 APOE G6PC1 HNF1B PFKM UMOD SLC12A3 DNAJB11 SEC61A1 HP_NEONATAL_HYPOGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_HYPOGLYCEMIA GYS2 MTOR HNF4A DBH KLF11 SLC25A20 CYP11A1 BLK APPL1 H19 KCNQ1 PDX1 PROP1 PAX4 FBP1 HNF1A MADD KCNJ11 COX10 AKT2 ABCC8 NSD1 KDM6A GFM2 CLPB YARS1 KCNQ1OT1 CEL IGF2 NEUROD1 CDKN1C HERC1 DNAJC19 HADH GCK SETD2 PET100 APC2 TBX19 HSD3B2 WARS2 INS PRKAG2 HP_ABNORMAL_FACIAL_SHAPE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FACIAL_SHAPE FOXE1 CCDC32 PIGA MGP BUB1B CCDC47 FAT4 NUP107 TPM3 ERCC8 EIF2S3 HPGD GRIK2 MIR17HG KANSL1 FOS TCTN3 H19 RERE WDFY3 MRPS28 TSPAN7 CEP41 DCPS KAT5 AGPAT2 ANKRD11 UBE4A CBL MAP2K1 PUS3 STX16 ZEB2 NEXMIF SIN3A PEX12 SOS2 AIP FLNB NOG MRPS16 POU1F1 EYA1 GRHL3 INPP5E CSGALNACT1 LMNA KCNMA1 SOS1 MAP2K2 CHST14 TMEM70 HACD1 HUWE1 PIGN COL11A1 NRAS VARS2 KCNJ2 DIS3L2 ACADS USP7 PLAG1 MANBA MATN3 CCDC174 KBTBD13 GHR MEG3 ARSB PEX7 AHCY EHMT1 STAT3 MAPK8IP3 ERCC2 EXT2 PQBP1 PIK3CA AP1S2 NCF1 TMEM237 CUX1 ATP7A CREBBP INSR TWIST1 PUM1 ZIC2 ATP6V1B2 HNRNPK DPH1 B3GALNT2 ITGA8 SETBP1 AEBP1 B3GALT6 CLCNKA GNS FGF9 PKD2 PTCH1 CHN1 NAA10 JARID2 ARID2 SNAP29 ALKBH8 AHI1 SLC35C1 MBD5 PDE4D MAPRE2 ZMIZ1 NEU1 SLC9A6 SLC2A10 DCHS1 C12orf57 COG1 FBXL4 PGAP2 IRF6 FUCA1 ZNF711 SRCAP SIN3B UBB TRMT5 ELN ARID1B SIX1 EIF4H WDR81 ITCH SMARCA2 CDH11 TOR1A MED27 TAOK1 IDUA GRIN2A ECEL1 MTX2 GJC2 RAI1 HIRA AFF4 GLI2 DACT1 ABCA5 CLDN3 TBX1 NPHP3 ATP6V1A FAR1 PIEZO2 SLC26A2 MYPN TCF4 KAT6B CLPB DISP1 AIMP1 CASK SNRPN SATB2 STAG1 DCAF17 ADAT3 SUFU ACE POLR1C FBN1 PLOD2 AP4M1 SEC24D NCDN COL2A1 IGF2 CTSA PDE6D G6PC1 CDH23 CEP57 TMEM270 EDA EXOC8 NFIA SATB1 MN1 RAF1 PAX3 NMNAT1 RAD51C BUB3 RIT1 MEOX1 DNMT3B SLC25A24 ABCC9 ZIC1 ATRIP BCOR CLTC GNAI3 NFIX KCNQ1OT1 CLCN4 RFXANK IDS MYL2 NSDHL TCOF1 FGD1 TNNT3 TMEM216 SLX4 LHX4 TBCK GNPTG ELOVL4 RAC1 BMP4 ZC3H14 CEP104 FTO EED MED23 RNF113A METTL27 BLM TRAPPC9 LMOD3 NALCN RELN TSEN54 PSMD12 GLA PPP1R12A HS2ST1 MAP3K7 METTL23 UBE3B PEX5 PUS7 PRSS12 PTEN P4HTM SLC10A7 PIGS SPECC1L SLC37A4 SUZ12 RAD50 COL6A3 SETD1B RLIM TAFAZZIN KDM4B HOXD13 THPO CHRNB1 RFC2 AP3B1 TRIM37 TTN PIGW UBE2T TTC37 B3GLCT HS6ST2 USP8 CRKL CTNND1 WNT10A RSRC1 BCORL1 FN1 ORC6 TGFB3 COG7 SOST MAN1B1 TMEM251 DHX37 MEN1 KMT2E CLIP2 MRPS34 RMRP EDC3 SCUBE3 ZBTB24 PDE11A SNAP25 OPHN1 LETM1 SMARCE1 COL3A1 BCAP31 PAX8 CENPT ATP6V1E1 CIC PEX26 TRIP12 EP300 MOCS2 SLC35A2 CACNG2 DNMT3A CPLANE1 SMARCA4 FANCL LAS1L EXOC2 MED12 SMC1A BPNT2 KATNIP MAPK1 KAT6A OFD1 ERCC6 PYCR2 ALG6 FGFR3 TMEM67 CLTCL1 DPYSL5 ATAD3A ARX ALG14 CLCF1 DDX6 MBOAT7 KCNN3 GDF3 LZTR1 GALNT2 ACTA1 FGF8 NAGA SP7 TAPT1 SGSH STUB1 GP1BB PEX19 GNE HSPG2 FMR1 RPL10 BRAT1 ATRX MED12L POR HRAS MAP3K20 RYR1 PHGDH PLOD3 NPHP1 GPC6 PPP2R3C FANCD2 AP4S1 DYNC1H1 ZMYND11 NEMF NF1 HMGA2 GTF2I CNTNAP2 CFL2 KCNJ8 MYH3 KRAS TBC1D2B SLC45A1 MYCN AMMECR1 AP4E1 RBBP8 EBP DNAJC21 MCTP2 C2CD3 SARS1 PAX9 SPTBN1 RFXAP UFSP2 NDST1 GDF6 CDH15 CHAMP1 CSNK2B GPC4 RFWD3 PRKAG2 PYCR1 ZNF423 COL9A1 CWC27 GNAS FBXO11 STXBP1 OTUD5 ERF GUSB BPTF PEX16 PYROXD1 DDX3X PTPN23 SMS MAFB CIITA WDR4 LHX3 CLCNKB UNC80 RNASET2 SLC6A8 SOX6 ATP6V0A2 HPDL CEP120 SMARCC2 COL11A2 ZBTB18 DNAJC30 SALL1 SYT2 CCDC8 SUMF1 CEP55 HDAC4 CHD7 AGO2 PTPN11 MPL FRRS1L POC1A RECQL4 SEC24C SHH COLQ SLC9A7 POLR1D KIAA0586 CAMK2G SOX11 PURA TLK2 ERCC1 DYRK1A WASF1 BSCL2 PGAP1 SET DENND5A LINS1 RUNX2 CSF1R CAMK2B FLNA STAG2 CDKN1C FANCA BRAF HERC1 KIRREL3 RUSC2 CDCA7 CEP290 SGCG TBL1XR1 PLK4 RAB11A PIBF1 MAGEL2 TCF20 SOX5 MYOD1 FGF10 ETFDH ALDH18A1 MYSM1 MMP14 KAT8 B9D1 PHF8 KIF1A TSHR GRIN2B PLAA GTF2E2 PEX2 FANCF CHRNA1 CSPP1 TBR1 TBC1D24 XRCC4 ARVCF PKHD1 ALG13 ATP10A KNSTRN KIAA0753 COX7B PRDX1 TRAPPC4 CC2D1A SLC5A7 MMP2 TDP2 CAMK2A MADD CNOT1 FIBP PSPH BRWD3 GTF2IRD1 POLE C12orf4 SPEN NTNG1 DYM FLII LRP4 TRMT10A IFITM5 LONP1 EDN1 RNF168 GLB1 SLC12A2 NDUFB11 DNAJC19 ACTG1 TBC1D7 NKX2-5 PIGY LAMTOR2 ETFA DOCK3 XYLT1 FGFR2 AGT IQSEC1 LMAN2L XRCC2 TBX2 PROP1 RNF13 NUP133 PCNT TMCO1 MTRFR ST3GAL3 PPP1R15B ATR ALDH6A1 SOX9 ADAMTS3 CTNND2 MED13L CHRND UFC1 NONO PITX2 YY1 CD28 PEX6 COL1A1 FANCC PAH MKS1 GINS1 TTC5 SMARCD1 HPSE2 SALL4 FLCN HDAC8 POGZ EZR MAD2L2 HSD17B10 SOX4 LIFR AP2M1 GJA1 SEMA3E WRN RDH11 PAK1 SNIP1 CHRNA7 PIK3CD KIF4A KCNH1 TBX22 FMN2 ELMO2 CRLF1 MAN2B1 LAT2 POLR1B GNPTAB CEP152 MSTO1 TNNI2 TSPEAR TNIK TRPS1 ALG11 LIMK1 UBA1 TAB2 CACNA2D2 DPF2 PIGC CCBE1 COL1A2 GATA1 LIG4 TRIP11 CENPE VAMP1 TPM2 EXOC6B FLI1 ALG12 MOGS DDX11 SMAD3 NSD1 RASA2 FKBP10 FANCG PPP3CA COL9A3 BRIP1 DLK1 SMO FANCM PALB2 FGF20 GBA CC2D2A A2ML1 SH3PXD2B PDHB SLC18A3 NSUN2 CDH1 PEX13 APC TNRC6B ASH1L OBSL1 KMT2C WASHC4 PAX7 PPP2R5D STRADA RPS6KA3 RHOBTB2 KDM5B PEX3 AGA CHRNE KCNK9 AKT1 MYO9A TECPR2 RAPSN EZH2 ASXL2 SLC6A1 KATNB1 TRPM3 ERCC4 CRTAP TCTN1 OTUD6B LOXL3 NANS PAK3 ZNF699 CTCF GPC3 PHIP COG4 ZDHHC9 KIF15 CLIC2 BRCA1 CNTN1 PIK3C2A RFX5 RRAS2 FLT4 DSTYK SLC25A1 MTM1 BCL7B PPARG SCN1A ARID1A SELENON ADNP CACNA1C SPEG NEB PPP1R21 B3GAT3 ACER3 BUB1 COMT UBE3A PIGB ALG2 BRCA2 MACF1 MPLKIP CHSY1 CDK10 EPB41L1 DEAF1 CHAT KIF22 NHEJ1 HEPHL1 IARS1 LMX1B PACS2 JAG1 SVBP RRAS TMEM94 TANC2 PPP2R1A NHS FGFR1 SIX5 CCDC115 COL9A2 SUMO1 TARS1 BUD23 HNMT SYNGAP1 DPYS ATG7 SLC39A8 COL6A1 PMM2 SLC12A6 FIG4 FANCB IGF1R HIVEP2 SIM1 KIF7 CAMTA1 AMER1 AUTS2 ETFB ERMARD GFPT1 NKX2-1 CTLA4 PHF6 EXTL3 P3H1 RPS17 KLHL15 MRPL12 PRKAR1A LAMB2 CRADD SMARCB1 LTBP3 HIBCH KCNJ1 AHDC1 PIGL SLCO2A1 POLR3A ARMC9 APC2 PEX1 TCF12 HELLS KMT2A CHRNG SERPINH1 HEXB RTTN NOTCH2 PEX14 PTF1A SMC3 ACTB TELO2 CHST3 CPLX1 CHD2 TPRKB PRKACA RNF135 MGAT2 B4GALT7 MID2 EFEMP2 SIX3 PEPD CDC6 CLIP1 HECW2 SPRTN FARSA TRAIP SON MVK ERCC3 HESX1 KCNC3 PAPPA2 CDC42 OCA2 ACTL6A WNT5A KCNJ5 TAF1 PIGQ ALG9 RAD51 TET3 WAC PGM3 PLCB4 RAB11B SLC2A2 PRKACB NGLY1 PAX1 HCCS ITGA3 THOC6 FANCE ABHD11 DLL1 ALG8 MMACHC SLC26A4 FANCI SEPTIN9 CTDP1 MBTPS2 WDR26 STX1A DDR2 MRAS TMEM260 SLC2A1 MYH8 NKAP ASXL1 ANKRD17 SETD2 IQSEC2 SKIV2L MTOR RPGRIP1L FGF3 RIN2 PACS1 VPS33A UFD1 TRIO MED13 MAF BIN1 IFT57 IGF1 GTF2IRD2 ARMC5 PLXND1 TMEM231 CHD4 DOCK8 VPS37D BRF1 STEEP1 SNX14 WNT7A CUL4B PDHA1 TUBB4A RTL1 GPR101 SH2B1 ANTXR2 CAVIN1 GRM7 DHX30 ALG1 GALNS PEX10 NECTIN1 EFNB1 GRIA4 ARL13B SOX18 NDN AIFM1 ACTL6B TBL2 NEDD4L CBY1 ARL3 LARP7 TBX15 CRBN TUBB UBR7 PORCN VEGFC DVL1 ALMS1 COL13A1 SRD5A3 FGFRL1 DPM2 ADSL AGTR1 MORC2 BCR REN MPDZ KLHL41 OCRL GTF2H5 TALDO1 ITGA7 BRCC3 TMEM138 TGFA JMJD1C TCTN2 TRAF7 BRSK2 BSND CUL7 UPF3B PBX1 SEC31A FHL1 FBLN5 TP63 STIL CANT1 EDNRA CNOT3 CTNNB1 TGFB1 CPE NTRK2 AASS ADAMTSL1 PIGK PTCH2 PIK3R1 AP4B1 NKX2-6 EEF1A2 PIGU KCNQ1 AXIN2 MYH7 PUF60 GRIN1 USP9X TONSL LEMD3 WNT10B PAM16 TRMT1 SH3BP2 RREB1 CDK8 FBXW11 KCNA1 PHF21A RBMX GAD1 TENT5A MYT1L LRP6 EXOSC9 ROR2 HYLS1 PIGG NSD2 PIGV KCNQ5 EDARADD NBEA HGSNAT MSX1 MED25 ADARB1 UBE2A NAGLU FBXO31 WARS2 EMC10 TECR BRPF1 JAK3 SSR4 ZNF148 TTI2 PIGF NFIB RHOA ZMPSTE24 SPOP LMBRD1 ASPH TNFRSF1B ACTG2 FAM149B1 MOCS1 POLA1 GK PRMT7 ANOS1 SEMA5A GTPBP2 PGAP3 LEMD2 PALS1 ADAMTSL2 KDELR2 CTBP1 TUBGCP4 MCOLN1 PEX11B PCGF2 SLC17A5 DHPS RSPRY1 CNP CYP24A1 BMP1 FUT8 PLPBP COL6A2 AGRN SPRED1 SMARCAL1 MRPS14 L1CAM NBAS RAB39B KDM6B BAZ1B GDF5 NR2F1 SLC16A2 PIGO ADGRG6 LRPPRC EBF3 HYOU1 NTNG2 NOTCH3 PTRH2 CENPJ CAV1 MEIS2 SLC1A4 BMPR1A NDE1 FKBP6 CLDN4 HTT TRIP13 MLXIPL ASAH1 TUSC3 EMC1 KLF13 RIC1 HP_SHORT_COLUMELLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_COLUMELLA ERF NAA10 KDM6A CENPF ACTB CREBBP NALCN SHH KCTD1 CTCF ASXL3 LMBR1 TWIST1 ALX3 B3GLCT ARSL KMT2D ACTG1 DNMT3A HP_DEEP_PHILTRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEEP_PHILTRUM SMPD4 SHH PURA TRPS1 TFAP2A KIF11 SIX3 PRKACB SUZ12 SLC35C1 SHOC2 PIGT INTS1 FGFR1 RTL1 KCNK4 EBF3 CDKL5 EFTUD2 STIL NRAS GLI2 PIGS PPP1CB NOVA2 DISP1 MEG3 FGF8 SETD5 DPM2 OFD1 ZIC2 SMOC1 EXT1 BRAF NAA10 NBN DPYD PBX1 CREBBP NSD1 PAM16 EP300 SNX14 DNMT3A HRAS MGP CBL MED12 EZH2 MYH8 CHSY1 FBN1 ARID2 UBE2A EED OCRL MAP3K7 ATP6V1B2 DLK1 HS2ST1 TALDO1 HP_LARGE_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_FOREHEAD CAMTA1 FMR1 ODC1 STXBP1 RNF125 ARID2 PDE4D PTEN UNC45A SRC HS6ST2 STRADA AMMECR1 SUMF1 LMX1B VPS33A SPOP MEIS2 FLNA BMPR1A LEMD2 HP_FACIAL_CLEFT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_CLEFT DYNC2I1 FRAS1 DYNC2I2 WDR35 RIPK4 POLR1C TCOF1 COLEC10 POLR1D ALX1 SPECC1L IFT80 EVC DYNC2H1 EVC2 POLR1B HP_POTTER_FACIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POTTER_FACIES ITGA8 CEP55 PKHD1 NPHP3 ACE AGTR1 REN FGF20 UBA1 AGT HP_ABNORMALITY_OF_THE_ABDOMINAL_ORGANS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ABDOMINAL_ORGANS RNU4ATAC SLC25A15 RAG1 PALB2 NEUROG3 PIGA ATP11C CCDC47 MAFA FLI1 ERCC8 UQCRB DPM1 RNASEH2A KLF1 FOS ABHD5 DCDC2 FECH FGA MRPS28 LIPE STN1 STEAP3 IER3IP1 MYRF PIK3CA AGPAT2 CBL SPEN MT-TS2 MRPL44 TPP2 ZEB2 MT-ND1 PC IL2RG PEX12 SOS2 SAMHD1 TSHB BACH2 TREX1 POU1F1 MT-ND4 RHCE LMNA BCS1L SOS1 MRE11 ACVRL1 MT-ND2 NGLY1 ENG CCDC39 NRAS GLRX5 DIS3L2 ACADS HFE PRKCZ ATP8B1 C1S CHEK2 PEX6 MMAB PARN STAT6 SUCLG1 PDX1 MPL PEX5 THPO RFWD3 MEG3 SRP54 ARSB IKZF3 AHCY UQCRFS1 SMAD4 GLIS3 DYNC2I1 GAS8 NCF1 HYMAI B9D1 ACAD9 TGFB1 PCCA CDKN2A GPD1 PPOX UROD KCNN4 KIT RFT1 RRM2B ERAP1 RNASEH2C LIPA SETBP1 INF2 TPI1 CFAP410 DNAJC19 GBA GNS ABCD3 MDM2 PKD2 CEACAM6 SLC2A1 HNF4A ARID2 RERE SLC25A20 IYD GYPC RSPH4A FLT1 NEU1 NPHS1 FAT4 CD247 FAH WDR35 DMPK FUCA1 CDKN1B FBP1 CALR APC SPINK1 TRMT5 ELN ARID1B IL17RC TCIRG1 EIF4H TTC7A CEL ITCH EPB41 PCK1 TP53 PTPN22 NTHL1 B9D2 CFTR MGMT ANK1 LYST LDLRAP1 MED13L PSMB9 CA2 CD27 IDUA MEFV APOE RAG2 HADH SLCO1B1 FOXJ1 ARL13B MKS1 CISD2 HIRA PSAP MIF GLI2 CLDN3 NDUFS3 CEP290 DDRGK1 CYP7A1 TBX1 NPHP3 NUP205 TMEM216 BLVRA FGFR2 IL10 CCND1 KRAS HSPG2 DLL4 JAK2 DZIP1L SDCCAG8 CDC73 BTK CC2D2A BRD4 SMPD1 HAVCR2 DISP1 HNF1A DNAAF3 IRF5 KCNN3 PHKA2 SPTA1 NOTCH1 YARS2 RUNX1 MTTP SEC63 UNC45A CDKN1A TBXAS1 DLD CLDN1 PPARG ABCC8 G6PC1 FAS TMEM270 WT1 ABCB4 RFXAP IL2RA RAD51C UBR1 FGG TRAPPC11 NUP133 VPS45 MYD88 RIT1 LCAT ODAD2 EARS2 PHKB HLA-DRB1 COA8 FADD CCDC32 ATP6AP1 SLC25A13 ICOS IFT80 BBS12 TCTN3 PIEZO1 CD81 PRF1 GUCY2D ATM PRKCSH KCNQ1OT1 C4A UGT1A1 RFXANK IDS NDUFS1 ZIC2 PTEN KRT8 HBG1 HADHA SLX4 LHX4 FCGR3B TMPRSS6 CCNO DRC1 SLC40A1 BBS5 NUP85 NCF2 SCO1 TMEM67 METTL27 CBS CLCN7 RELN CD19 CAV1 PDGFRA IL2RB MARS1 ACTG2 TFAM ATRX NAGA SCYL1 MT-CO1 NADK2 RPS20 PIGS SLC37A4 TNFRSF1A MVK FLNB SLC25A19 PYGL DNAJC21 RFC2 AP3B1 ALG1 FASLG TRIM37 PIGM RSPH1 NCF4 AIRE VCP IGF2 UBE2T TTC37 PSMB4 IL17F CTRC SPTB IFT172 HBA2 NME8 PEX3 BOLA3 XK SCARB2 RBM8A IFT140 SP110 HADHB PIGG COG7 PLIN1 RHAG KIF20A ENPP1 PRTN3 COX15 CFAP53 CLCNKB MMAA NODAL SLC35C1 SERPINA1 MET KMT2E HLA-B RASGRP1 CLIP2 TNPO3 AP3D1 ABCG8 DUOX2 F5 RHBDF2 RMRP PKD1 TET2 LPL MRPS7 MCM10 PKD1L1 COX10 ELANE APOL1 LETM1 CASP10 SMARCE1 MSH6 CRB2 PSMB10 PEX26 TTC21B WDPCP SAMD9 GALK1 NUP107 SMARCA4 PAX8 SLC4A1 FANCL ARSA BTNL2 EXOC2 STAT3 CPT2 KCNJ11 KRT18 NCKAP1L OFD1 ORAI1 ERCC6 CTNNB1 APOC2 AP1S1 LACC1 ALG6 GAS2L2 EPCAM TNNI3 BICC1 PEX7 MT-ND3 TNFSF12 DYNC2H1 ALG9 NDUFS6 PMS1 STX11 ABCB11 SNX10 LZTR1 HBB BCKDHA REST CCDC40 FGF8 AP2S1 SGSH MT-ND6 STUB1 GP1BB PEX19 GNE STAT4 B2M SDHB TTC8 HJV TCF3 PCK2 TERC TUFM ALG8 BRCA2 SPIB FANCD2 STK36 MCCC1 MPV17 HMGA2 GTF2I FCHO1 CFAP221 MYO1E HLA-DPA1 ATP7B PKLR PEX1 ARL6 TNFRSF13B TERT SPOP TNFRSF11A NR1H4 CCR1 CLPB SLC20A2 SPTBN1 RAD51 DCLRE1C EFL1 TGFBR2 DNAJB13 PMS2 POMC CDK4 MFN2 ADK PLAGL1 ODAD1 LBR MT-TE GPC4 CPT1A CIITA STRA6 PDGFRL OTUD5 IL7R CDIN1 GUSB PEX16 GCLC TSC1 SAA1 LHX3 ACADVL RINT1 DKC1 TERF2IP FOXF1 MADD CEP83 DNAH11 CYP7B1 WDR1 RPGRIP1L PEPD FOXRED1 CR2 SMARCC2 DNAJC30 CTLA4 CARS2 SUMF1 NPC2 FBN1 PEX2 SRSF2 NEK8 DCTN4 TXNDC15 MRPL3 ARHGDIA PSTPIP1 PHKG2 SLC39A4 SEC24C SHH STK11 LZTFL1 SPECC1L DHDDS EIF2AK3 PNPLA2 SLC5A5 LMNB2 NSMCE2 NAB2 ACTN4 ERCC1 BSCL2 GSTM3 BARD1 G6PD TNFSF11 GALM IRAK4 SEC23B ATP7A DNAAF4 INPP5E DAAM2 FOXP3 NPHS2 CDKN1C FANCA SHPK DPAGT1 DHCR7 FMO3 CASK UBE4B TBX19 BAAT APOA1 CEP19 RHD CYBA ETFDH MTRR GATA1 ABCC6 NDUFS2 MSH2 AUH INVS ABCC2 C2orf69 MPI MNS1 LRBA MMP21 SH2B3 FAN1 WNT3 NFS1 ABL1 MS4A1 SLC11A1 ZFTA WDR19 FANCF HPGD USP18 XRCC4 ARVCF MYC GDF2 PKHD1 ALG13 KCNH1 B3GLCT LIG4 NDUFAF1 ANKFY1 PTPN3 IL18BP BBS2 COG2 LRRC56 HMOX1 RNF43 MT-TS1 RBPJ PRKAR1A GTF2IRD1 NUP37 NBEAL2 MYCN SCNN1G NDUFS7 C1QBP HNF1B LRP5 UNC13D INPPL1 APOB C4B ASS1 NUP160 LYZ LONP1 PCSK9 CASP8 EPB42 NLRP12 ANLN GLB1 CCDC28B NLRP1 SDHD TFR2 DYNC2I2 NKX2-5 POLG2 ALAS2 ETFA RFX5 LMF1 TNFRSF13C RECQL4 ASXL1 MT-TH TRMU ABCA1 ALPK1 NHLRC2 XRCC2 BAP1 PROP1 KRIT1 SLCO1B3 TCF4 CYBB CPOX POT1 NLRC4 AXIN1 NOP10 ADAMTS3 MPIG6B IL12A-AS1 CEACAM3 DSE CD3E GALT CYBC1 CD28 HLA-DPB1 FANCC IL17RA NDUFA6 SEMA4D NDUFB10 GPI HPD SMARCD1 GANAB ACADM EMP2 MKKS CD40LG RABL3 HYDIN MAD2L2 SLC44A1 SOX4 RAB23 AP1B1 SAMD9L RAB27A GCGR AAGAB MCIDAS DYNC2LI1 CDKN2B COX4I2 MAN2B1 LAT2 MYPN NEUROD1 CIDEC CFAP300 JAK1 BRCA1 STOX1 CARD11 CAVIN1 WFS1 CYP19A1 SDHA GATA2 CD55 STXBP2 MUC5B LIMK1 GPIHBP1 ARHGAP31 CEP164 DNAI2 CCBE1 GP1BA CDON MMEL1 ADAMTS13 RSPH9 DUOXA2 INS TNFRSF4 MST1 SCNN1A LHX1 USB1 HAMP H19 MOGS SURF1 RAD50 PRKCD ATP6AP2 LARS1 INSR MEN1 RASA2 NPHP1 FANCG SFTPC MT-TV MT-CYB GFM1 MMUT GPC3 XIAP NDUFB3 BRIP1 DNAJB11 GABRD TMEM126B DLK1 DBT FANCM HSD3B7 IRF8 A2ML1 RAD51D STX1A IFNGR1 GAA BBS1 BMPER TJP2 CPA1 BRAF CENPF CTSA AGA IFIH1 AKT1 COG8 SC5D SLC6A14 JAM3 NHP2 ERCC4 HMGCL PTPRO BBS9 CTBP1 ZAP70 ASL NDUFAF3 DOLK MAGI2 SEMA4A SIK3 SCAPER ZNF699 CTCF ATPAF2 RARB SLC7A7 COG4 MEGF8 AKT2 PDGFRB CHST14 PIK3C2A CD79A RRAS2 MT-TW XPR1 ACD OTC POU6F2 MYBPC3 COG5 NDUFS8 BCL7B DNAH5 GCDH NFKB1 EDNRA MLH1 PPP1R21 NFKB2 COMT SOCS1 COX5A MT-ND5 IL23R ALG2 IGLL1 HMGCS2 CYP27A1 DNAH9 IL1RN YY1 ANTXR1 SLC25A1 GCK IARS1 TTC12 MPC1 TRIP13 NEK1 JAG1 RRAS TINF2 CCDC65 FGFR1 MT-TK CCDC115 BUD23 TSHR PLEKHM1 OSTM1 DGUOK LPIN2 PSMB8 SLC39A8 PTPN2 PMM2 IQCB1 FANCB RAC2 DHCR24 ODAD3 NBN TMEM165 NDUFS4 IL6 ETFB IL36RN CFAP418 MT-TF EXTL3 CDKN2C PEX10 FAM111B TPO DNAI1 TRIM32 G6PC3 PDPN TF LTBP3 STIM1 CASR CEP120 NLRP3 UBAC2 SLCO2A1 BCHE PRSS1 NAGS BCL6 ESCO2 RAF1 SLC30A10 PRSS2 SBDS OCLN AKR1D1 PTPRC HEXB SLC11A2 NOTCH2 PEX14 ZIC3 PTF1A IFT43 TELO2 NELFA LRPPRC MECP2 BBS7 CD70 FLNC ALDOA SIX3 TLR4 IGF2R RBCK1 SPEF2 FARSB ACP5 SLC34A2 SPRTN FARSA VPS4A HMBS SON PNP POLG UMPS NOTCH3 TNFSF15 HESX1 LUZP1 ACVR2B ELP1 IKZF1 SF3B1 NDUFV1 CTSC ITK GBE1 MAGT1 TKFC PEX13 ODAD4 ALDOB ARID1A TMEM237 TMEM107 ZPR1 VPS33B SLC2A2 MT-TL1 DNAH1 GATA6 RIPK1 FANCE ABHD11 MMACHC PFKM FGB NSD1 ACOX1 POLD1 COL14A1 FDX2 FANCI MT-CO2 MT-TN DNAAF1 PHYH BMP2 CORIN IL12RB1 TMEM199 SPAG1 NUTM1 TRPC6 NBAS DNAL1 HYLS1 GNA11 HK1 SKIV2L KLF11 HBG2 NDUFAF8 MT-CO3 ALMS1 GNPTAB APPL1 DNAAF6 IL12A VPS33A UFD1 MRAS LDLR IGHM XPNPEP3 WRAP53 UROS BCL2 PCCB GTF2IRD2 TRHR SLC9A3 BPGM ADA POU2AF1 DOCK6 VPS37D ARHGAP24 DHFR SAR1B SLC22A5 FAM111A RMND1 PCSK1 PALLD VHL RTL1 HOXD13 MMP23B UCP2 PIK3R1 TCTN1 CTNS GALNS EWSR1 HBA1 TRIM28 ABCG5 AGL SCNN1B MLH3 LAT SOX10 RFX6 TBL2 MCM4 RSPH3 NPHP4 CLEC7A BCKDHB COG1 NPC1 SLC26A9 SLC26A4 TSC2 TBC1D8B RELA TRAF3IP1 MITF FCGR2A FGFRL1 DPM2 TNNT2 CPLX1 MC1R PUF60 GNMT GSN FH NDUFB9 TYMP BBIP1 ADAR RPGR JAM2 SERPINE1 TALDO1 PTPN11 TMEM70 GDF1 BCR NDUFAF4 JMJD1C DNAAF2 PRPS1 PDGFB NDUFAF2 NDUFV2 SLC29A3 TRAF3IP2 KDM5C SLC10A1 MYH11 CD2AP PAX4 ATP6V1B2 NOD2 SETD2 NDUFAF5 STIL TSFM NEK10 RPSA HNRNPA1 MICOS13 KCNQ1 HSD17B10 CLCA4 NDUFA1 MYORG USP9X LEMD3 NUBPL CTSK MT-TQ TRPV6 CTC1 RREB1 AMACR BBS4 COQ8B ERBB3 F10 SOX11 NSD2 BMPR1A VIPAS39 SLC16A1 TMEM231 EOGT COX14 KLRC4 HGSNAT IFT27 ATAD3A TRNT1 ARG1 DNASE1L3 GALE GPR35 SNX14 CSPP1 APC2 NAGLU VPS13A COL4A3 DPF2 SYK PARS2 IFT74 JAK3 PAX2 SMARCB1 PEX11B BLK TWIST1 ANKRD55 GAPVD1 TNFRSF1B RNASEH2B LRRC8A CHD7 GNAS TOGARAM1 ANKS6 ADA2 INTU IFNG LMBRD1 TKT IFT122 SDHC COG6 DDOST NPM1 SLC25A4 SLC12A3 SLC51B MED25 DNAAF11 CFAP298 LYRM4 ADAMTSL2 CDAN1 PLCE1 ASAH1 BTD SH2D1A KIF3B PIK3CD NUP93 SLC17A5 MT-ATP6 CD79B DAXX RPGRIP1 CNOT1 XYLT1 NDUFB11 KCNAB2 SFTPA2 NDUFA11 TG SMARCAL1 FERMT3 AGGF1 MLXIPL PGM1 ZMYND10 TARS2 IL21R KPTN STAT1 HNRNPA2B1 SKI CFB MTX2 BAZ1B HSD17B4 BLNK POLR3A SLC16A2 RTEL1 CASZ1 HYOU1 ARX PRDM16 PTRH2 TIMMDC1 CCDC103 YARS1 TWNK CD96 FKBP6 DNAAF5 CLDN4 PNPLA6 CFC1 TCTN2 CD3D PSMG2 ACAT1 CP BBS10 HP_VOMITING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VOMITING MCCC1 SLC25A15 COL1A1 NDUFS1 NEUROG3 SLC12A1 PTCH1 MT-ND6 MT-CO2 CDKN2B MT-TV LAMB3 MEFV DLL1 TDGF1 FGF8 CUBN ABCC8 EGFR SPTBN1 BRAF CTNS MT-TS2 SIX3 ZEB2 NEXMIF MT-ND1 SCNN1B PPM1D MT-ND4 MPV17 FOXH1 SLC2A9 SYT1 HMGCL KCNJ11 MT-ND2 PHKG2 BCKDHB ATP1A2 ASL GLI2 NDUFAF3 ZIC2 MMAB SUCLG1 SAA1 PNPLA8 CDH23 ACADVL ATP6V0A4 CPOX CLCNKB RELA STAR CCM2 ADNP MT-TW RANBP2 LAMC2 SLC22A5 FOXRED1 CFH MLYCD SLC6A8 CYP11B2 HS3ST6 SLC7A7 MRAP ACADM ASXL1 PCCA TGIF1 COL4A5 HNRNPK NDUFB9 TYMP MT-TC COL5A2 CLCNKA NDUFS8 ACTG2 DISP1 AVPR2 SLC5A1 RRM2B RECQL4 HNF4A HLA-DQB1 CYP11A1 SHH ALG11 MT-ND5 HLCS NDUFAF4 ATRX HMGCS2 DYRK1A DBH SCNN1A PHKA2 CDKN1B FBP1 MT-TF NDUFAF2 NDUFV2 NODAL BSND GALC HPRT1 GHSR CDON SMPD1 MT-TK SLC22A12 STK11 TCN2 DHCR7 HADH IRAK1 FGFR1 PPOX NDUFAF5 ALX4 SUGCT ESR1 F12 DGUOK MT-TS1 RET AASS SCNN1G ETFDH MTRR PMM2 APC ABCC6 NDUFS2 ACP2 FLNA ALDH18A1 MPI SCN2A SLC25A13 NDUFA1 NDUFS4 MSX2 AIMP1 ETFB GFM2 ALG8 D2HGDH ZFTA NUBPL NDUFS3 SLC1A3 CDKN2C MT-TQ MTTP AMN UNC45A CDKN1A CFI EDNRA HFE NR3C2 NDUFV1 PSAP CDK8 STX3 SAR1B OXCT1 HIBCH KCNJ1 NAGS MVK COA8 NDUFS7 IVD RYR1 RARS1 OPLAH FOXP3 NFIX ASS1 AQP2 PKHD1 TIMM22 ALAD STAT4 MT-ND3 GLA SERPING1 HELLPAR ARG1 GALE AIP UQCRC2 GAS1 ETFA CLMP SYK LIPA ACY1 MT-TH DLD SSR4 PDSS2 TRMU KARS1 FARSB STAG2 MEN1 OTC NLRC4 SHANK3 HMBS AVP MT-CO1 CPS1 POLG SLC12A3 MC2R TNFRSF1A COL4A6 GALT ALDOB NDUFA6 NDUFB10 ATP1A3 SLC19A3 ITGB4 LAMA3 ACSF3 HSD3B2 GK NOTCH2NLC BOLA3 MTHFD1 NDUFAF1 NNT SLC5A6 PLEC ACAD8 ENPP1 MT-TL1 BTD MMAA SMC1A NAXD MET KMT2E COQ2 LPL MRPS7 MT-ATP6 ELP1 MCCC2 CYP24A1 TXNRD2 ALG3 NDUFB11 TNF NDUFA11 ASXL3 DGAT1 COL5A1 CD55 PDCD10 NBAS SPP1 CTNNB1 TP53 PYCR2 PIGY EPCAM NDUFAF8 MT-CO3 ST3GAL5 ALG9 NDUFS6 CACNA1A CPT2 TIMMDC1 BCKDHA PCCB YARS1 ASPA MT-CYB HLA-DQA1 ACAT1 ANAPC1 ERBB3 KRIT1 PHGDH CARD8 MMUT SI NDUFB3 TMEM126B DBT ALPL CD46 HP_DIARRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIARRHEA TNFRSF13B RAG1 NEUROG3 FCHO1 HBB CFH CCDC47 SLC12A1 IFNGR1 MT-ND6 DPM1 TTR SMAD4 CDKN2B ERBB2 WNT2B CYP11B2 C5 ZAP70 RET MEFV CBL PPP2R5D GDNF ANTXR2 EGFR HMBS DCLRE1C EFL1 HPS1 PIK3R1 MT-TS2 ALG1 CD247 RFXAP AGA BMPR1A IRF2BP2 SKIV2L ICOS IL7R IL2RG ENG BACH2 ERCC8 ITGB3 MPV17 RFX6 ABCB4 IGKC RECQL4 CIITA PIK3CD SLC46A1 PHKG2 SRP54 SEMA3C ITGB4 ATP1A2 USP7 APC SAA1 NOD2 MADD VPS13C STAR FCGR2A LCK PALLD WDR1 WAS AK2 BRCA1 MLYCD HS3ST6 SLC7A7 COG4 SPINT2 MRAP ATP7A ACADM BTK TGFB1 KIF23 CR2 TET2 CDKN1B RFX5 CD79A MT-TW TYMP SRSF2 GNS ITGA2 POLA1 PTEN ADA ACTG2 RNF168 SLC5A1 SLC10A2 SLC39A4 RRM2B CPOX HNF4A HLA-DQB1 GP1BA CDKN2A BRCA2 IKBKB F5 SREBF1 IGLL1 TLK2 HMGCS2 ERBB3 CYP27A1 DBH DMPK SCNN1A STAT1 JAK3 PHKA2 FBP1 RAG2 MYO5B TTC7A ETHE1 RUNX1 FOXP3 NSUN2 LIPA PINK1 TCN2 MEN1 HADH IRAK1 PIGT IDUA SLCO2A1 ABCD1 SLC9A3 SUGCT CFHR3 LRRK2 UCHL1 SCNN1G IGHM AKR1D1 RIPK1 AP1S1 TREH MPI SMO TP53 NBN SLC25A13 LRBA CPT1A GP1BB ALG8 MT-TF SLC1A3 DES PMM2 CDKN2C PERCC1 MT-TQ MTTP UNC45A CDKN1A LIG4 EPCAM G6PC1 TSHR NR3C2 KRAS PALB2 STX3 IL2RA SYNJ1 ASXL1 CFHR1 ITGA2B PLEC SAR1B MT-TS1 MYD88 GFI1 KCNJ1 KNSTRN NAGS DNMT3B CTLA4 CD3D MVK KIT PHKB ATP6AP1 OPLAH PTPRC SCN11A HEXB HGSNAT IDS ITCH RFXANK OTULIN ACVRL1 STAT4 GLA SERPING1 TERT DNASE1L3 CD109 PODXL NAGLU SLC19A2 CD19 ECE1 CLMP SYK TNFRSF13C MGME1 MT-TH SCN9A ATP8B1 GREM1 NHLRC2 IL2RB NLRC4 IL21 SON ATRX AVP MT-CO1 CD79B CYP7B1 CARMIL2 MC2R LRRC8A SLC37A4 SLC26A3 GUCY2C CHD7 TNFRSF1A ALAD HTRA2 ALDH4A1 CFTR IFNG LCT ADAM17 CD3E GALT MCM6 COG6 ALDOB AIRE IKZF1 TTC37 ATP1A3 ACSF3 GINS1 SCNN1B PARK7 TKFC TCIRG1 CASP8 SLC12A3 CD40LG SLC51B ARX NNT SP110 MT-ND4 PLVAP IL10RA CLCNKB BTD MT-TL1 SLC35C1 SI EDNRB GATA6 NAXD SMARCD2 HLA-B IL6 MAOA ERCC2 MCM10 TFRC ELP1 DAXX POLG ITGA6 RABL3 MT-CO2 TXNRD2 ALG3 SEMA3D NRTN PRKN SAMD9 HSD3B7 DGAT1 MT-ND1 TMPRSS15 MT-ND5 CD55 IL21R SNCA NCF4 IL6ST ERCC6 SPP1 EDN3 KIF1B HMGCL BLNK MT-CO3 WIPF1 ALG9 DNAJC6 HYOU1 ABCB11 SGSH SDHD IL37 CACNA1A HLA-DQA1 TCF3 ANAPC1 ELANE PCSK1 CARD8 ASAH1 RMRP ERCC4 RNF113A ACAT1 DDC PKP1 HP_DYSPHAGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSPHAGIA ATP7A SEPSECS NDUFS1 SYT14 IRF5 SATB1 MECR DCTN1 ATP7B SLC18A3 TPM3 PTCH1 TUBB4A ADAR MAP2K2 ATXN3 GALC PTS SLC9A6 SDHC QDPR CAV1 CRLF1 MMP23B SQSTM1 NTRK1 LINGO1 VAMP1 RERE SPG11 DLL1 NOP56 TDGF1 FGF8 IRF6 GEMIN4 MRPS28 PAX7 TP63 MYO9A HIVEP2 ECM1 HMBS KDM5B ANKRD11 CTNS SPEN VCP MFF PUS3 SIX3 SDHA ZEB2 CHRNE MT-ND1 CDH15 KCNK9 ATXN7 POLG2 LMOD3 MT-ND4 GRHL3 GBA PLXND1 CARS2 FOXH1 LBR GIPC1 CHRNA1 SIK1 CSNK2B ZMYND11 TRPM3 MEGF10 TRAPPC12 BRAF GIGYF2 DYSF GUCY1A1 MT-ND2 STXBP1 NGLY1 HACD1 TBP ATP1A2 GLI2 PRKCZ ZIC2 PYROXD1 MSX1 SNCA NPC1 TOP3A TTBK2 KBTBD13 CYP7B1 POLG DMPK CACNA1A MADD CHRND PIGN ZNF699 ZFYVE26 ADNP COL13A1 FARS2 MYOT AFG3L2 ATP1A3 CDH1 TPM2 GLUD2 PABPN1 CUX1 RAI1 FA2H EPRS1 GRIN2D TGIF1 TAF1 COL4A5 GCH1 UBTF TSEN2 PSAP SYT2 ERLIN2 NPC2 KIT RRM2B SDHB SETBP1 TYMP VPS13A GNS SLC25A1 TBK1 CCN2 KLHL41 ACTG2 DISP1 PIGA LMNB1 SELENON ITGA7 ATXN1 NEUROD2 MYH11 SPECC1L NEFH NEB COLQ SHH MBD5 TK2 MT-ND5 TFG MYO1H MACF1 FBXL4 FBXO7 CYP27A1 ATXN8OS EPB41L1 UBB ARHGAP29 DEAF1 CHAT BRSK2 ASCC1 NODAL TANGO2 CAMK2B OCA2 LMX1B PANK2 HPRT1 SACS PFN1 SRPX2 WFS1 CDON SEC31A IDH1 FTL NUP62 ACTA1 UBE3A CNTNAP1 MT-TK DNM1L TAOK1 UBE4B FGFR1 SYNJ1 SCARB2 KIRREL3 PYGM ALS2 ASH1L SYNGAP1 ATXN10 RAB11A HTT TUBB6 MAPT ATG7 OPA1 B4GALNT1 REEP1 SPG7 GRM1 ATN1 NDUFS3 AASS DCX FGF10 NECTIN1 ALDH18A1 SPTBN4 FIG4 HPDL EEF1A2 DNAJB6 GCDH KCND3 MATR3 KIF1A BAP1 HSPG2 PRPS1 TBCD MYH7 MYPN CRYAB GRIN2B PLAA PLA2G6 PRNP KAT6B PNKD CDC73 LAMA2 GMPPA FERMT1 C9orf72 MECP2 NF1 VAPB PDE8B DPYSL5 PUF60 SLC2A3 GRIN1 MRPS25 GFPT1 SATB2 ZC4H2 PEX16 VPS35 IRF2BPL ACOX1 PIK3R5 SLC1A3 SOD1 SLC52A2 YARS2 ARX CLN8 KY TSEN15 VAC14 LRRK2 AR MPZ PMP22 KLHL40 LAMB2 EIF5A SPG21 REV3L SLC5A7 TSEN34 PDPN ADCY6 CAMK2A PRPH APOE EXT2 NEK1 TENT5A FUS REPS1 GAS1 NDUFA9 RNASEH1 EXOSC9 POLR3A HPCA ASAH1 DKK1 CHCHD10 KMT2A SIGMAR1 RARS1 GRM7 ADH1C CLTC NUTM2B-AS1 KCNQ5 NBEA HGSNAT BMP4 APP MYL2 MT-ND3 HOXB1 EIF4G1 SLC12A2 CLCN1 MID1 XRCC1 TARDBP PRKCG FGFR3 MYORG COQ4 WARS2 NDUFA6 NOTCH3 MYT1L DLX4 SLC6A9 RELN CHD7 SDHD IRX5 STAG2 CACNA1G CHMP1A PDGFRA FRG1 FLAD1 MYMK SON MMP1 CARMIL2 NDUFAF2 PDP1 MT-TW FGFR2 KCNC3 COL4A6 ALDH4A1 PLEC NDUFAF3 LUZP1 HLA-DQB1 SETX SETD1B PRKRA GRHL2 NONO YY1 DNAJC13 FXN ATXN2 IKZF1 MT-ATP6 SLC19A3 NOS1 FLCN SLC25A4 SCN3A TGM6 UBQLN2 ATP13A2 ADD3 SLC44A1 HSD17B10 KDELR2 LIFR DDHD2 MED17 KIF5A SMC1A FMR1 SEMA3E HLA-B SNCAIP HLA-DRB1 GBA2 TIMM8A DGUOK SERPING1 FUZ RHBDF2 KIAA0319L ACTB SCUBE3 NF2 CHAMP1 SCN4A SNAP25 WAC PCNA HLA-DQA1 KLHL7 ADGRG1 VARS1 NCAPG2 MBTPS2 KCNAB2 CIC NEU1 PLP1 AGRN RLIM CACNG2 SCO2 PSEN1 NOTCH2NLC CAVIN1 MTRFR CCR6 POLR3B SLC25A22 MYH8 TWNK DAB1 STUB1 SKI OPTN MGME1 C19orf12 MT-TL1 NR4A2 SLC52A3 GNAO1 GJB1 TBC1D23 LRPPRC EBF3 PI4KA EXT1 SPART CASZ1 PRDM16 UNC45B NDUFS2 SET MT-ND6 ASPA ABCD1 SLC1A4 TCF4 DYRK1A COQ2 MED12L COL7A1 GNAQ DOCK8 GDAP2 NDUFB8 DLG1 SURF1 MT-TV PPP3CA MAP3K20 RYR1 TSEN54 IDH2 TRIP4 DYNC1H1 GABRD LRP12 HP_NAUSEA_AND_VOMITING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NAUSEA_AND_VOMITING MCCC1 SDHD SLC25A15 COL1A1 NDUFS1 GTF2I IRF5 NEUROG3 PPARGC1A HLA-DPA1 SLC12A1 FLI1 TAF15 PTCH1 MT-ND6 MT-CO2 CDKN2B VHL MT-TV ERBB2 CHMP2B LAMB3 CAV1 TGFBR2 ITGA6 CYP11B2 CCR1 RET MEFV DLL1 TDGF1 FGF8 CUBN AVPR2 ABCC8 GDNF EGFR HMBS SPTBN1 AQP2 BRAF PIK3CA CTNS FAS MT-TS2 EWSR1 PMS2 SIX3 SDHA MMUT ZEB2 NEXMIF SDHB MT-ND1 EXT2 MATR3 SCNN1B TBK1 MLH3 PPM1D MT-ND4 MPV17 MSH2 FOXH1 SLC2A9 ANXA11 TBL2 SHANK3 PTEN SYT1 HMGCL KCNJ11 PDGFB MT-ND2 SDHC PHKG2 SEMA3C ANG BCKDHB ATP1A2 ASL GLI2 NDUFAF3 BAP1 ZIC2 SEMA4A MMAB SUCLG1 SAA1 PNPLA8 CDH23 ACADVL ATP6V0A4 CPOX VPS13C CLCNKB RELA STAR DLEC1 CCM2 ADNP MT-TW RANBP2 STAT4 PALLD LAMC2 BRCA1 SLC22A5 FOXRED1 CFH MLYCD SLC6A8 UBQLN2 CACNA1D HS3ST6 ITGB4 MAX SLC7A7 LMOD1 NCF1 MRAP TRAF3 ACADM ASXL1 PCCA TGIF1 COL4A5 DNAJC30 PPOX HNRNPK DNMT3A KIT ERAP1 LIPA NDUFB9 TYMP MT-TC COL5A2 CLCNKA SRSF2 NDUFS8 BCL7B CCN2 ACTG2 DISP1 MYLK SLC5A1 MDH2 RRM2B RECQL4 HNF4A HLA-DQB1 CYP11A1 SHH CDKN2A BRCA2 ALG11 MT-ND5 IL23R HLCS NDUFAF4 ATRX SQSTM1 HMGCS2 ERBB3 DYRK1A BIRC3 DBH SCNN1A PHKA2 CDKN1B FBP1 MT-TF TLR3 NPPA NDUFAF2 NDUFV2 ELN ATP7A NODAL BSND EIF4H TREM2 GALC UNC13A HPRT1 GHSR CDON SMPD1 CTNNB1 MT-TK SLC22A12 PINK1 STK11 TCN2 HNRNPA1 DHCR7 HADH IRAK1 FGFR1 UNC93B1 VCP NDUFAF5 KIF1B ABCD1 BUD23 ALX4 SUGCT ESR1 F12 DGUOK MT-TS1 CLDN3 AASS LRRK2 SMO UCHL1 SCNN1G PFN1 ETFDH MTRR PMM2 APC ABCC6 PON2 MALT1 NDUFS2 ACP2 IL10 FLNA ALDH18A1 MPI TP53 SCN2A CDC73 SLC25A13 NDUFA1 NDUFS4 MSX2 SMAD4 PON3 AIMP1 ETFB GFM2 FAN1 OPTN ERBB4 ALG8 D2HGDH ZFTA NUBPL NDUFS3 EPAS1 SLC1A3 FH SREBF1 CDKN2C MT-TQ MTTP AMN MYC UNC45A CDKN1A SLC25A11 CFI EDNRA KCNJ5 HFE SDHAF2 IL18BP RAB27A TMEM270 NR3C2 NDUFV1 KRAS CTLA4 PSAP CDK8 BCL10 KCNA1 PALB2 STX3 NF1 SYNJ1 SAR1B BMPR1A OXCT1 HIBCH MLH1 UBAC2 KCNJ1 CLCN2 GTF2IRD1 NAGS MVK COA8 NDUFS7 CFAP410 IVD RYR1 RARS1 KLRC4 OPLAH FOXP3 NFIX ASS1 C4A PKHD1 TIMM22 AKT1 ALAD MT-ND3 GLA TARDBP VAPB SLC46A1 SERPING1 HELLPAR TMEM127 ARG1 DNASE1L3 GALE AIP UQCRC2 PODXL GAS1 ECE1 ETFA CLMP SYK METTL27 FSHR ACY1 TLR4 MGME1 MT-TH DLD SSR4 PDSS2 TRMU KARS1 FARSB STAG2 PDGFRA MEN1 PON1 OTC CYP11B1 NLRC4 PAH AVP MT-CO1 CPS1 POLG RPS20 SLC12A3 WT1 MC2R DLST GLE1 TNFRSF1A HTRA2 COL4A6 IL12A-AS1 SMARCB1 TRAF7 GALT ALDOB HLA-DPB1 RFC2 CACNA1A NDUFA6 FUS NDUFB10 IKZF1 ATP1A3 SLC19A3 LAMA3 TET2 ACSF3 SUFU HSD3B2 GK PARK7 NOTCH2NLC BOLA3 NEK1 MTHFD1 NDUFAF1 NNT SLC5A6 PLEC ACAD8 ENPP1 PRTN3 MT-TL1 BTD MMAA SMC1A EDNRB NAXD MET KMT2E HLA-B CLIP2 HLA-DRB1 RHBDF2 COQ2 ABHD11 KIAA0319L LPL MRPS7 SCN5A MT-ATP6 ELP1 DAXX TICAM1 ATXN2 C9orf72 MCCC2 MYH11 RABL3 CYP24A1 MSH6 NLRP3 CHCHD10 TXNRD2 ALG3 LAT2 SEMA3D NDUFB11 STX1A FIG4 TNF NDUFA11 NRTN ASXL3 PRKN NF2 SMARCE1 DGAT1 COL5A1 CCR6 EPCAM GATA2 CD55 SNCA PDCD10 NBAS CCNF RNF6 SPP1 LIMK1 PYCR2 EDN3 PIGY BAZ1B DCTN1 NDUFAF8 TERT MT-CO3 ST3GAL5 IL12A ALG9 NDUFS6 PMS1 SOD1 DNAJC6 CPT2 TIMMDC1 BCKDHA GLT8D1 PCCB YARS1 GTF2IRD2 ASPA EPHA4 MT-CYB PTPN22 FOXP1 DAO HLA-DQA1 FKBP6 NEFH ACAT1 CLDN4 PRPH ANAPC1 VPS37D KRIT1 MLXIPL PHGDH CARD8 WWOX SI NDUFB3 TMEM126B DBT ALPL CD46 HP_NAUSEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NAUSEA ETFDH RRM2B SDHD APC COL1A1 SDHC PHKG2 SLC1A3 CLCN2 CYP11B1 NAGS HMBS SERPING1 DNAJC6 KIT CDKN2B VHL SAA1 LPL PHKA2 SCN5A CDKN1B RYR1 CPOX NPPA DLST VPS13C CYP11B2 ETFB ALAD HTRA2 POLG PKHD1 CFH RET CACNA1D EPAS1 SDHA MAX SLC7A7 GLA FH ALDOB CDKN2C TNF HELLPAR TMEM127 SLC22A12 PINK1 MEN1 CDKN1A SDHB PRKN PPOX EXT2 DNMT3A SLC25A11 CFI TET2 EDNRA PODXL COL5A1 KIF1B KCNJ5 PARK7 TYMP SDHAF2 COL5A2 ETFA ESR1 IL18BP SRSF2 SNCA SLC2A9 FSHR MGME1 ASXL1 KCNA1 TP53 NF1 LRRK2 UCHL1 CD46 SYNJ1 MDH2 HP_CONSTIPATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONSTIPATION LMNB1 FOXE1 COL1A1 GTF2I SATB1 SIX3 ARNT2 SLC12A1 PTCH1 CAMK2B FGFR1 MT-ND6 VPS51 TTR HNRNPK CDKN2B ERBB2 SOX3 LAMB3 MT-TK SLC6A8 MMP23B RET MEFV DLL1 TDGF1 FGF8 OTUD6B CUBN AVPR2 GDNF HMBS ZIC2 SPTBN1 AQP2 BRAF PIK3CA TGFBR2 CTNS SPEN MT-TS2 PMS2 SDHA ZEB2 FGF12 EXT2 WASF1 ZSWIM6 OCRL TSHB MLH3 MDH2 POLG2 POU1F1 PPM1D SOX10 MSH2 GBA FOXH1 TBL2 EP300 GIGYF2 CHST14 SNRPN GABRA3 NGLY1 LRIG2 PROKR2 SEMA3C ATP1A2 USP7 GLI2 RERE PRKCZ SLC12A2 MT-TL1 SEMA4A FLNA STAT6 SHH SIK3 SMO SLC26A4 LHX3 IGBP1 CHCHD2 MADD STXBP1 VPS13C PPP1CB STAR UNC80 ADNP MED12 LAMC2 MLYCD MED12L MED13 GLUD2 NCF1 TBP MRAP CREBBP CASR FOXA2 FDFT1 ATRX PCCA TGIF1 MT-TE HPSE2 DNAJC30 PPOX SALL1 NRXN1 KIT DISP1 RRM2B SRCAP MT-TW COL5A2 MECP2 CD96 UBE2A BCL7B SETD1A ACTG2 MYH11 USP9X SEC24C CPOX PAX8 BICRA PPP1R21 IYD SLC6A3 COMT SDHC SLC5A5 JMJD1C MYO1H TRH TLK2 NAB2 ERBB3 BIRC3 TSHR DMPK ATXN8OS CDKN1B ELN NODAL EIF4H OCA2 UPF3B LMX1B PACS1 PROP1 CDON SMPD1 PINK1 SOX2 HESX1 AFF4 UBE3A DHCR7 TSPOAP1 SETD2 UBE4B TBCD DEAF1 ABCD1 STIL BUD23 RAI1 CISD2 HIRA MAGEL2 PSMB8 DACT1 CLDN3 HNRNPH2 ATN1 LRRK2 UCHL1 TBX1 LHX4 APC MALT1 ODC1 HIVEP2 SCNN1G HSPG2 TCF4 PRNP KMT2A CDC73 CAMTA1 KDM1A FAN1 NKX2-1 SETD5 PEX16 MT-TF VPS35 GJC2 ADAT3 SLC1A3 DES ATP7A SREBF1 WAC CDKN2C ZNF292 MT-TQ KCNH1 ARVCF AMN CDKN1A FGF13 EDN3 TPO SCN11A HFE RREB1 VPS11 EIF5A CSNK2A1 TMEM270 BCL10 PDPN HS2ST1 SYNJ1 TENT5A RORA MAPT ZMIZ1 BMPR1A MT-TS1 MLH1 KCNJ1 FAR1 GTF2IRD1 POU4F1 NKX2-5 KCNJ18 KRAS FLII ADH1C NFIX PIGV TRIO SCNN1B SDHB EIF4G1 ABL1 APC2 PODXL CDKL5 MBD5 GAS1 ECE1 GATAD2B ARID2 METTL27 TH TCF20 COQ2 MT-TH SCN9A NALCN WDR26 LMNB2 STAG2 FOXG1 PDGFRA UBE3B MMP1 MT-CO1 IGHMBP2 P4HTM RPS20 SLC12A3 DUOX2 MC2R PIGS TNFRSF1A POLG ALAD HTRA2 LUZP1 DSE UFC1 SPOP SCN10A TYMP CACNA1S AFF3 DNAJC13 ALDOB RFC2 TANC2 MSL3 TAF1 DDOST ATP1A3 LAMA3 FOXP1 PARK7 SLC25A4 VANGL1 MED25 NNT MT-ND4 POGZ SNCA KDELR2 CLCNKB SMC1A EDNRB SCNN1A CLIP2 SNCAIP MRPS34 ABHD11 SH2B1 PCGF2 ELP1 DHPS NSD1 CNP MSH6 THRA MT-CO2 TXNRD2 DDHD2 LAT2 SEMA3D MBTPS2 STX1A KCNAB2 MITF NRTN TG PCCB BRCA1 PRKN COL5A1 MT-ND1 MLXIPL CAVIN1 CHRM3 WFS1 EPCAM MT-ND5 LIMK1 IQSEC2 SKI PLA2G6 BAZ1B PHOX2B MT-CO3 DPF2 UGP2 OTX2 NR4A2 UFD1 PMS1 DNAJC6 ATXN2 SPART CASZ1 PRDM16 DUOXA2 GALNT2 MNX1 FLI1 GTF2IRD2 GP1BB MOGS DYRK1A CACNA1A TWNK FKBP6 COL7A1 POR CHD8 MEN1 CLDN4 GRIN1 VPS37D SPATA5 GABRD DDC ALPL TBL1X HP_GASTROESOPHAGEAL_REFLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROESOPHAGEAL_REFLUX ATP7A SEPSECS COL1A1 GTF2I HDAC8 IRF5 SATB1 RTEL1 SIX3 CCDC47 MSR1 CACNA1A FBN1 SLC18A3 PTCH1 CAMK2B FGFR1 PDHA1 ADAR DSP CDKN2B SLC9A6 MUC5B CAV1 CRLF1 COL2A1 DDB1 MMP23B SYNJ1 RERE DLL1 TDGF1 FGF8 GEMIN4 ERCC8 ARSL SH2B1 FCSK HIVEP2 CDK19 ZIC2 SLC13A5 BRAF KDM5B ARF1 SPEN NEXMIF CHRNA3 SEC63 CDH15 EXT2 STAG1 ZSWIM6 SPTLC2 GPHN MYO9A POLG2 TECPR2 PPM1D CNKSR2 CLTC FOXH1 LBR CHAMP1 CSNK2B TBL2 ZMYND11 SHANK3 GABRB2 TRPM3 TRAPPC12 EP300 PHOX2B PYCR1 SYT1 NTRK2 MEIS2 SLC6A5 STXBP1 GABRA2 TRAK1 PIGN USP7 GLI2 PRKCZ SLC12A2 SLC35A2 TMTC3 ASCC1 SLC1A2 ALDH18A1 SUCLG1 PORCN SHH ACADVL ALMS1 ZNF699 CTCF ADNP COL13A1 EHMT1 FGFRL1 CPLX1 MED12L NCF1 CUX1 RAI1 CREBBP KIAA0586 FLNA ATRX TGIF1 GLRA1 COL4A5 DNAJC30 TSEN2 SYT2 NRXN1 NEDD4L DISP1 RRM2B SRCAP KCNQ3 TYMP COL5A2 ATP6V1A MECP2 ACTL6B SLC25A1 STN1 CHD7 BCL7B CCN2 OCRL ARNT2 UBA5 RAD21 MYH11 USP9X SEC24C DNM1 BICRA SLC6A3 MBD5 COMT GMNN JMJD1C MYO1H ORC1 DYRK1A CNTNAP1 FBXL4 CDKN1B EPB41L1 DEAF1 CHAT ELN BRSK2 ADAMTS2 NODAL NIPBL EIF4H SRPX2 FMR1 CDON SEC31A NONO CYFIP2 NUP62 AFF4 NPHS1 FGFR3 DHCR7 SETD2 TAOK1 UBE4B PARS2 KIRREL3 STIL BRD4 AARS1 BUD23 CCDC22 HRAS TERT ARFGEF2 SCN3A ASH1L SYNGAP1 RAB11A HIRA MAGEL2 PIK3CD STAG2 CLDN3 HNRNPH2 ATN1 AASS EEF1A2 SCN9A TBX1 TBC1D24 SPTBN4 ABCD4 SFTPA2 TSPYL1 RPL10 NALCN TBX4 KIF1A HSPG2 GNB5 SHROOM4 GRIN2B TCF4 WWOX SMG9 LAMA2 SMC1A ORC4 ASCL1 SIAH1 PUF60 GRIN1 SATB2 SKI ADAT3 GRIN2D CDKN2C TSEN15 PPP3CA ARVCF CDKN1A ERMARD RREB1 EIF5A WASHC5 EDEM3 TMEM270 SPTLC1 PSAP SLC5A7 TSEN34 PDPN CAMK2A KMT2C PSPH LONP1 TRMT10C GTF2IRD1 KNSTRN SLC25A24 KMT2A FLII CAMTA1 LRP5 SLC2A10 ATAD1 NSD2 NFIX PRKCSH KCNQ5 NBEA POLR2A ITCH TIMM22 NUP214 TOP3A SMC3 SLC46A1 KCNA2 MID1 GABRG2 APC2 ADAMTSL2 TRIP4 MGAT2 CDKL5 GAS1 NECAP1 PIEZO1 ARID2 METTL27 MAPK1 SEMA3E CDC6 PIEZO2 MYT1L MAP3K7 CELF2 ATP6V1B2 SSR4 FARSB WDR26 FOXG1 CHMP1A HCN1 SFTPA1 SALL1 TWIST1 GALC SEC23A MYMK SON AMER1 GNAS ATL3 COL4A6 TFAP2A KAT6B LUZP1 HLA-DQB1 SETD1B SMARCA2 ABCA3 SPOP MMP1 AFF3 ARV1 RFC2 AP3B1 KCNQ2 ELP1 MSL3 GLRB TAF1 DDOST FGF13 MT-ATP6 NOS1 FLCN ATP11A SLC25A4 ORC6 PARN POGZ PGM3 MAP1B COG7 AP3B2 CTBP1 KCNB1 PAK1 CLIP2 POLG HLA-DRB1 MRPS34 DPP9 RHBDF2 ABHD11 KIAA0319L PCGF2 SNAP25 PIGT NSD1 LETM1 WAC HLA-DQA1 ADGRG1 LAT2 CENPT RET STAC3 STX1A KCNAB2 CIC GABRA5 AGRN NEPRO ASXL3 SAMD9 SNRPB CACNG2 WNK1 CACNA1B COL5A1 MLXIPL CCR6 SOX5 AGO2 ASXL1 KAT6A LIMK1 IQSEC2 SLC19A2 BAZ1B MCEE DHDDS CLCN4 SCN8A ERCC6 PACS1 ATL1 ALG9 UFD1 LRPPRC EBF3 PI4KA YWHAG CASZ1 VAMP1 PRDM16 FGF12 LTBP4 CSPP1 SET GTF2IRD2 MED12 ASPA GP1BB ALG12 SLC1A4 TERC TWNK RNF125 FKBP6 POR RETREG1 MEN1 FAM13A CLDN4 DOCK8 COL7A1 BLM VPS37D NUS1 CTHRC1 DALRD3 PHGDH SZT2 TSEN54 SFTPC DYNC1H1 GABRD DDC HP_ANAL_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANAL_ATRESIA CCNQ SEC24C BRCA2 SALL4 SPECC1L MKKS LONP1 NFKB2 COMT MEOX1 KIF7 SEMA3E USP9X KMT2D ZIC3 JMJD1C FANCB MYCN RAD51 GDF6 TNFRSF13B FANCE CDH1 BCOR CDC45 MAMLD1 WDR35 HOXD13 TBX3 ICOS UBR1 TNRC6B CD81 RSPO2 FOXF1 TWIST2 EMC1 FANCI DYNC2I1 KDM6A CR2 GLI3 NBN HSPA9 FGFR2 EXTL3 CTNND1 SLX4 ABL1 DACT1 IFT80 FANCA FUZ MID1 PITX2 FREM2 COX7B SIN3A FANCL CHRM3 DYNC2I2 CCDC22 POMT2 WNT3 VANGL1 DPYS HIRA RFWD3 RECQL4 DYNC2H1 ERCC4 WASHC5 FRAS1 CHD7 CD19 TBX1 EPCAM GRIP1 PIGN XRCC2 MKS1 SALL1 TWIST1 TNFSF12 GATA1 UFD1 AMER1 RIPK4 GDF3 NDUFB11 FKTN POMT1 MNX1 PIGO CEP120 MED12 TNFRSF13C WNT7A EHMT1 FKRP PQBP1 GP1BB MS4A1 INTU FANCF SPINT2 THOC6 DCHS1 FANCC UPB1 ARVCF CAPN15 HCCS PRKCD UBE2T B3GLCT FANCG RAD51C RREB1 NAA10 AR PPP2R3C BRCA1 TCTN3 BRIP1 FANCD2 LARGE1 NFKB1 FANCM PALB2 KMT2C MAD2L2 HP_MALABSORPTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALABSORPTION SH3KBP1 SAR1B PEX6 GTF2I BMPR1A NEUROG3 SATB1 MYD88 MLH1 CCDC47 UBAC2 STX1A SLCO2A1 GTF2IRD1 KMT2D PRSS1 DNMT3B SPINK5 PEX1 TERT HELLS KRAS MT-TK MEFV PTF1A PKHD1 CCR1 SBDS PEX26 KLRC4 TERC AKR1D1 FOXP3 CBL TGFB1 C4A ANTXR2 EFL1 NHP2 PIK3CA TGFBR2 FAS SRSF2 PEX3 PMS2 BAAT DMP1 PEX10 CBLIF PEX12 MLH3 MSH2 RFX5 NCF2 RFX6 ABCB4 CLMP SLC6A14 METTL27 LIPA TBL2 TLR4 CFTR RFXANK CIITA SLC5A1 CYBB SLC46A1 GLA ATP8B1 CDCA7 MIF PEX16 GCLC PEX5 MT-TL1 SEMA4A CTNNB1 PARN SAA1 RPS20 SLC26A9 CYP7B1 DKC1 NOP10 MADD SLC39A4 LRRC8A FCGR2A TJP2 POLG STAT4 SRP54 ADAMTS3 AK2 IL12A-AS1 CEACAM3 LCT TYMP JAK2 MCM6 NCF1 CYBC1 DNAJC21 TINF2 RFC2 BTK MT-TE NCF4 AIRE TET2 SLC7A7 DNAJC30 PIK3R1 NPM1 KCNN4 SLC2A2 CD79A PEX19 ERAP1 BCL7B OCRL SLC51B DCTN4 PGM3 EDNRA ENPP1 RECQL4 SLC10A2 CEACAM6 HFE HLA-DQB1 AMACR SI SERPINA1 IL23R PEX11B CLIP2 IGLL1 FAT4 RMRP ABHD11 ERCC2 GSTM3 F5 UBR1 SPINK1 CD79B ZBTB24 TRMT5 ELN PNLIP CTRC SLC29A3 ATP7A COX4I2 MSH6 EIF4H IRF5 LAT2 KDM6A RUNX1 NSUN2 SHPK HLA-B LIG4 HSD3B7 FLNA CCR6 BUD23 WFS1 EPCAM HMOX1 CD55 CISD2 LPIN2 LIMK1 CLDN3 CYBA BAZ1B MTOR ACOX2 BLNK HLA-DRB1 IL10 CCBE1 APC IL12A CLCA4 PMS1 CCN2 DZIP1L MTTP RTEL1 HYOU1 ARX ABCB11 IGHM PEX2 WRAP53 LBR FAN1 PEX13 USB1 GTF2IRD2 SLC11A1 CLTRN SLC9A3 HPGD PEX14 HLA-DQA1 PRSS2 XRCC4 FKBP6 TCF3 CTC1 CLDN4 AGA VPS37D PTRH2 MLXIPL PCSK1 CAV1 TMEM270 SLC6A19 RFXAP ASXL1 HP_ANAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANAL_STENOSIS PITX2 KDM6A NBN GRIP1 SPECC1L FREM1 NSUN2 SALL1 CDH11 CCNQ SEMA3E KMT2D DCHS1 SNRPB FREM2 LIG4 FOXC1 CDC45 AMER1 SMO RIPK4 FERMT1 TBX3 SALL4 PIGN MNX1 PIGO MED12 FAT4 FRAS1 CHD7 HP_ABDOMINAL_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABDOMINAL_PAIN SLC4A1 SDHD GTF2I MYO1E HLA-DPA1 FLI1 GNA11 PTPN22 CPA1 CDKN2B VHL SDHC ERBB2 TP53 NR1H4 CCR1 RET MEFV SMAD4 CBL GDNF FIP1L1 HMBS SPTBN1 HFE HPS1 PIK3CA TGFBR2 FAS P4HA2 EWSR1 PMS2 TRIM28 BMPR1A SDHB SEC63 MLH3 SOX10 MSH2 BCOR TBL2 PTPRO ATP8B1 SRP54 SEMA3C MAGI2 SEMA4A APC PORCN SAA1 NOD2 CPOX TBC1D8B STAR STAT4 PALLD POMT1 BRCA1 CFH MLYCD APRT HS3ST6 MAX SLC25A26 NCF1 MRAP COL4A5 TET2 DNAJC30 ABCA1 PPOX CDKN1B DNMT3A ERAP1 WT1 INF2 TYMP POU6F2 NKX2-5 SRSF2 BCL7B PTEN PML ACTG2 ARHGDIA PIGA RNF168 MDH2 RRM2B HLA-DQB1 CDKN2A BRCA2 GYPC EPB41 IL23R FLT1 ACTN4 NPHS1 ERBB3 BIRC3 F5 G6PD SPINK1 ELN EIF4H DAAM2 CD2AP RUNX1 TRIP13 GHSR NPHS2 ZBTB16 STK11 CFTR CASR IRAK1 CASK PIGT ESR1 KIF1B ABCD1 BUD23 F12 MIF CLDN3 NUP205 TSC2 MALT1 IL10 ABCC2 TREH SMO CDC73 ABCB11 IL6 STAT5B FAN1 PRKAR1A SPTA1 EPAS1 FH ATP7A SREBF1 CDKN2C PRSS2 MYC UNC45A CDKN1A FGF13 KCNN4 EDN3 PIEZO1 SLC25A11 CFI ANKFY1 SDHAF2 PTPN3 CDH23 TMEM270 COQ8B KRAS CTLA4 BCL10 PALB2 NF1 ABCB4 ASXL1 NUP133 NLRP3 MLH1 GFI1 UBAC2 SPTB GTF2IRD1 NUP37 SCN5A PRSS1 KIT HLA-DRB1 LRP5 KLRC4 OPLAH PRKCSH HEXB NUP160 C4A PKHD1 EPOR OTULIN ALAD GLA EPB42 NLRP12 ANLN SERPING1 HELLPAR TMEM127 NABP1 DNASE1L3 GPR35 SLC40A1 RARA COL4A3 NUP85 ECE1 JAK2 SYK METTL27 FSHR TLR4 PAX2 TSC1 TCF4 ANK1 MPL CTNNB1 ATRX GAPVD1 RPS20 SLC12A3 MC2R TBL1XR1 DLST GUCY2C TNFRSF1A POLG COL4A6 ALDH4A1 IL12A-AS1 ADA2 MVK MCM6 ALDOB HLA-DPB1 RFC2 SEMA4D DDIT3 IKZF1 USP8 CTRC SCN1B EMP2 SCARB2 TCIRG1 NUMA1 IRF2BP2 NNT PLCE1 HBB PRTN3 CLCNKB SI EDNRB RIPK1 GBA MET HLA-B CLIP2 GCGR ABCG8 ABHD11 NUP93 LPL CLDN16 DAXX ELANE APOL1 RABL3 MSH6 TXNRD2 LAT2 SEMA3D STX1A CRB2 BMP2 MITF CORIN NRTN STOX1 TRPM4 NUP107 EPCAM TRPC6 CD55 CPT2 NPM1 SPP1 LIMK1 LACC1 PIGY BAZ1B IL12A PMS1 MST1 REST FUS GTF2IRD2 H19 GNE FOXP1 SDHA HLA-DQA1 FKBP6 MEN1 CLDN4 DIS3L2 VPS37D ARHGAP24 MLXIPL CEL CARD8 MMUT GPC3 STAT3 CD46 HP_CHRONIC_DIARRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_DIARRHEA PIK3CD EPCAM IL7R FCHO1 RAG1 CCDC47 PPP2R5D USP7 SLC35C1 STX3 IKBKB SREBF1 WIPF1 SON LIG4 WAS IL2RG ERCC2 SAA1 ATP6AP1 IDS JAK3 CARMIL2 LRBA MADD TFRC SLC39A4 ZAP70 CHD7 TNFRSF1A HEXB RAG2 ANTXR2 MVK ITCH OTULIN DCLRE1C ETHE1 COG4 NBN PIK3R1 COG6 FOXP3 ATP7A ALG1 BTK ADA MTTP NSUN2 TERT IRF2BP2 SAMD9 BACH2 IDUA CARD8 ASAH1 TKFC CLMP IL21R RMRP IL6ST POLA1 CASP8 RNF113A SLC51B CYP27A1 SLC5A1 PKP1 IL2RA CR2 SLC10A2 HP_ABNORMAL_ESOPHAGUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ESOPHAGUS_MORPHOLOGY ATP7A TRAPPC11 PLEC PSPH GTF2I ENG RBPJ ARNT2 MSR1 EOGT WWOX ATP7B GTF2IRD1 MYCN FANCB TERT MAMLD1 HOXD13 LAMB3 TGFBR2 DCC APC PKHD1 SLC2A10 TERC ATAD1 FOXF1 STN1 DYNC2I1 NHP2 PGM3 KRT8 TCOF1 SLC12A2 SLX4 SMAD3 SDHA IFT80 GPHN ADAMTSL2 DYNC2I2 FGFR1 FERMT1 NCF2 METTL27 LIPA TBL2 SEMA3E RFWD3 NOTCH1 ACVRL1 BRAF DYNC2H1 ERCC4 CYBB CHD7 SLC6A5 FARSB PHKG2 PROKR2 XRCC2 ITGB4 PDGFRA FGFR2 FGF20 ASCC1 PARN MMP1 CBS TMEM67 NOTCH3 CARMIL2 DKC1 NOP10 STXBP1 RET ALMS1 DLEC1 LZTS1 COL4A6 LAMC2 ADA2 INTU FANCL YY1 JAK2 NCF1 CYBC1 SDHC COG6 FANCC TINF2 RFC2 GLRA1 NCF4 COL4A5 GLRB DNAJC30 IKZF1 UBE2T PDGFRB CDKN1B PAH NPM1 LAMA3 GDF2 COL7A1 KIT RAD51 GBE1 SOX3 AR BCL7B GREB1L TGFB1 RNF6 SMARCD1 TGFB3 MAD2L2 MYH11 SPECC1L SOX2 POLR1D HLA-B ZIC3 BRCA2 CLIP2 KIF3B FANCE RHBDF2 ABHD11 IARS1 EFTUD2 WDR35 PHKA2 F5 AAGAB GBA ELN ADAMTS2 WBP11 ITGA6 COL14A1 HESX1 FANCI EIF4H LMX1B LAT2 STX1A RPL11 SLC30A10 FANCA STK11 DLL4 SAMD9 FANCD2 MEN1 RAD21 FH POLR1B BUD23 TGFBR1 ITGA8 KRT18 STAT1 TGFB2 RTEL1 LIMK1 CLDN3 CYBA PLA2G4A SIX6 BAZ1B ARHGAP31 TCF4 OTX2 FBN2 DZIP1L WRAP53 WNT7A USB1 GTF2IRD2 SMAD4 FANCF SDHB POLR1C FKBP6 CTC1 CLDN4 DOCK6 BLM VPS37D FANCG MLXIPL CTHRC1 PHGDH CARD8 BRCA1 RMRP TMEM270 BRIP1 ACD FANCM PALB2 RAD51C HP_ESOPHAGEAL_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESOPHAGEAL_ATRESIA DYNC2I1 FANCL YY1 PLEC SOX2 PROKR2 ITGB4 ARNT2 FGFR2 IFT80 OTX2 SEMA3E MYCN FANCD2 PAH ERCC4 MAMLD1 DYNC2I2 EFTUD2 SOX3 FANCB WDR35 FGFR1 AR RMRP FOXF1 WBP11 ITGA6 SMARCD1 DYNC2H1 HESX1 SIX6 CHD7 HP_POOR_SUCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_SUCK ATP7A SEPSECS DLL1 FOXH1 COLQ PPP1R21 SHH TDGF1 STAG2 PTPN23 CDON SMC1A HERC2 UBE3A SLC18A3 PTCH1 HADHA ZIC2 RHBDF2 GLI2 RTL1 GAS1 COL2A1 UBB SNAP25 ARHGAP29 RERE CHAT FGF8 TSEN54 NODAL BMP4 OCA2 SPTBN1 MSX1 PTS SLC5A7 HRAS DISP1 AGRN SIX3 CHRNE DHCR7 DLK1 SCO2 FGFR1 MYO9A UQCRC2 HADHB GRHL3 SLC52A1 SLC25A22 HTRA2 MT-TE CHRNA1 MEG3 SIK1 SNORD116-1 BRAF DLX4 ATP6V1B2 AASS PEX2 TP63 UBA1 NECTIN1 TBC1D24 SPTBN4 IRF6 UGP2 USP7 SIM1 TRIO SMARCC2 PLAA NDN PEX5 SNRPN VAMP1 MAGEL2 PWRN1 NDUFS2 ZNF699 COL13A1 ASPA PQBP1 MKRN3 NDUFAF3 PWAR1 TGIF1 NONO CDH1 DYRK1A DPYD TSEN15 RARS2 NPAP1 TRMU TSEN2 CNTN1 NDUFB8 SYT2 DLG1 SURF1 LAMB2 SLC25A1 TSEN34 SNORD115-1 TALDO1 HP_ABNORMAL_RECTUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RECTUM_MORPHOLOGY MYH11 SALL4 RNF43 COL1A1 KEAP1 MKKS GTF2I LONP1 BMPR1A POLR1D MLH1 NCF1 CCNQ GTF2IRD1 PTEN KIF7 HCCS CLIP2 BCOR SMAD4 ABHD11 KRAS POLD1 DDB1 UBR1 ELN PIGV NCF2 CYBA MSH6 RPS6KA3 EIF4H CCBE1 LAT2 PIK3CA TGFBR2 STX1A TCOF1 KIT NTHL1 PMS2 NSUN2 SDHA TP53 FREM1 INSR STK11 NDUFB11 RAC2 ENG MLH3 POLR1B COL5A1 MLXIPL MSH3 BUD23 EPCAM MSH2 SDHD METTL27 TBL2 RECQL4 DACT1 LIMK1 CLDN3 JAK3 KLLN BAZ1B GREM1 SDHC OTUD5 SDHB MUTYH PDGFRA SALL1 CYBB CHEK2 SEMA4A PMS1 LIG4 SEC23B RPS20 ITGB2 DICER1 PIGN MNX1 FCGR2A LTBP4 FAN1 GTF2IRD2 POLE CFTR SPINT2 POLR1C RFC2 FKBP6 TGFB1 CLDN4 DNAJC30 VPS37D RAD51C CDKN2A COX7B NAA10 COL5A2 TTC7A IL10RB MDM2 TMEM270 USF3 TCTN3 BCL7B VANGL1 AKT1 CDK8 AXIN2 HP_RECTAL_PROLAPSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECTAL_PROLAPSE MYH11 BAZ1B LAT2 COL1A1 STX1A NCF1 GTF2I RFC2 FKBP6 TGFB1 NSUN2 INSR BMPR1A STK11 GTF2IRD1 CLDN4 DNAJC30 VPS37D CLIP2 ELN MLXIPL LIG4 BCOR ABHD11 COL5A1 BUD23 NAA10 COL5A2 TMEM270 METTL27 BCL7B FCGR2A LTBP4 PTEN TBL2 SMAD4 GTF2IRD2 LIMK1 CLDN3 CFTR RPS6KA3 EIF4H CCBE1 HP_HIATUS_HERNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIATUS_HERNIA COL5A1 MYH11 ATP7A SLC6A5 WDR73 NUP107 WDR4 COL1A1 OSGEP TCF4 SPECC1L GLRA1 LAGE3 GLRB ALDH18A1 SLC2A10 GPHN PORCN ADAMTSL2 TPRKB COL5A2 NUP133 TP53RK ZNF699 ADAMTS2 ATAD1 GLIS3 NIPBL TNXB TGFB3 CHST14 HP_INFLAMMATION_OF_THE_LARGE_INTESTINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFLAMMATION_OF_THE_LARGE_INTESTINE PIK3CD MYH11 XIAP SKIV2L IL10RA RIPK1 FCHO1 ABCB1 TCF4 INAVA CYBC1 STX11 WIPF1 RASGRP1 NLRC4 IL21 FCN3 IL6 WAS UNC13D NOD2 MASP2 FERMT1 CARMIL2 ACADVL LRBA MST1 ELANE ZAP70 SLC37A4 OPLAH TNFAIP3 CASP10 FOXP3 F13A1 IVNS1ABP ARPC1B FAS IL37 PRF1 PRKCD HPS1 COG6 STXBP2 JAK1 SEMA4D TTC37 BCL10 GPR35 FASLG F13B BACH2 SLC9A3 CARD8 RFX5 IL10RB HLA-DRB1 IRGM SYK NCF4 POLA1 MEFV STAT1 HLA-B TGFB1 MAP3K7 RTEL1 RFXANK GPIHBP1 CIITA RET PLCG2 RFXAP PSTPIP1 HP_PROTEIN_AVOIDANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROTEIN_AVOIDANCE CPS1 OTC SLC25A15 ASS1 ASL HP_ANOREXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANOREXIA MYD88 CDKN2A UBAC2 BRCA2 FLI1 IFNGR1 IL23R GBA PTPN22 CD247 CALR CDKN2B CDKN1B MEFV DAXX CCR1 TET2 KLRC4 ATM CBL RABL3 AVPR2 C4A PKHD1 FIP1L1 TXNRD2 AQP2 FAS RUNX1 MECP2 P4HA2 SRSF2 ZBTB16 SLC46A1 HLA-B NABP1 ARG1 JAK2 HLCS IL12B RARA SLC19A2 SYK BCOR MMADHC TGFB1 NPM1 TLR4 MLX GLA HMGCL ATP1A2 IL10 CCND1 IL12A TP53 ATRX CBS HLA-DRB1 MPL MC2R TBL1XR1 SLC39A4 STAR SMAD4 STAT5B STAT4 PALLD NFS1 IL12A-AS1 BRCA1 PRKAR1A SLC1A3 CD3E CACNA1A CDKN2C MRAP MEN1 CDKN1A SLC4A1 ATP1A3 ERAP1 PTPN3 CD3D MMUT SCARB2 KRAS NUMA1 ACAT1 STAT3 PML IRF2BP2 NNT ALPL PALB2 ASXL1 HP_ESOPHAGEAL_VARIX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESOPHAGEAL_VARIX ARHGAP31 FARSB NOTCH1 JAK2 PHKG2 KRT8 COG6 ENG RBPJ SLC30A10 LIPA EOGT ATP7B PKHD1 DLL4 DOCK6 DZIP1L GDF2 KIF3B CBS TMEM67 GBE1 PHKA2 F5 ALMS1 GBA KRT18 STN1 ACVRL1 ADA2 SMAD4 HP_INTRACTABLE_DIARRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRACTABLE_DIARRHEA EPCAM SKIV2L PLEC SMARCD2 ITGA6 TTC37 C5 ITGB4 SYK HP_ESOPHAGEAL_STRICTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESOPHAGEAL_STRICTURE MYH11 FERMT1 PGM3 LAMB3 DKC1 COL7A1 NOP10 NHP2 TERT SAMD9 IKZF1 HLA-B LAMC2 LAMA3 MMP1 HP_ZOLLINGER_ELLISON_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ZOLLINGER_ELLISON_SYNDROME MEN1 CDKN1A CDKN1B PIEZO2 CDKN2C YY1 ATRX DAXX CDKN2B HP_HYPOTHERMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOTHERMIA ATP7A HMGCL MT-ND2 DBH PAX8 IYD TSPYL1 PROP1 MICOS13 MT-TL1 MT-ND5 SLC5A5 DUOX2 SCN10A SUCLG1 TBCK TSHR P4HTM LHX3 DUOXA2 MMACHC MT-ATP6 MT-TW HESX1 COA6 NTRK1 ACADVL UQCRFS1 MT-ND6 HLA-DRB1 MT-ND3 SCN9A LHX4 BTNL2 GABRA2 TG SCN11A MT-ND1 MT-TK TSHB TPO MT-TV LMNB1 POU1F1 ACADSB MT-ND4 SLC25A20 DGUOK DDC HP_HEAT_INTOLERANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEAT_INTOLERANCE KRT14 EDAR KRT5 ORAI1 UBE3A HNRNPK SHANK3 MAP2K2 NFKBIA POFUT1 POGLUT1 MAP2K1 EDARADD PSENEN NECTIN4 MBTPS2 ITPR2 EDA CLDN10 OCA2 LDHA HP_MALIGNANT_HYPERTHERMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALIGNANT_HYPERTHERMIA CRLF1 CHRNA1 STAC3 RYR1 ELP1 EDAR CLCF1 DNM2 BIN1 HSPG2 TRAF6 SCN4A NALCN SCN5A PGM1 EDARADD MYH3 CACNA1S MYF6 CHRNG KDF1 MTMR14 TRAPPC9 CHRND ABCA12 HP_PROXIMAL_RENAL_TUBULAR_ACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_RENAL_TUBULAR_ACIDOSIS SLC4A4 GATA3 OCRL GATM PC UQCC2 CYP11B2 NDUFAF6 ALDOB EHHADH SLC34A1 HP_ABNORMALITY_OF_THE_GLABELLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_GLABELLA RSPO2 CPLX1 FBN1 BICRA SPOP NF1 CTBP1 LETM1 ZSWIM6 MEG3 NSD2 TASP1 DLK1 FGFRL1 DPM1 NBAS INTS8 RTL1 ALX1 SPTBN1 HP_MYOPATHIC_FACIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOPATHIC_FACIES SPTBN4 MYH2 HACD1 MYL1 RYR1 ACTA1 KCNH1 SLC16A2 SLC52A3 TPM3 KNSTRN BCL11B PYROXD1 DMXL2 PURA EBF3 SGCB CCDC174 LAMA2 ERGIC1 TPM2 VPS41 MYH7 DPM2 GFM2 SELENON STAC3 SLC6A8 MYL2 TAFAZZIN GLE1 HOXB1 VAMP1 NEB GMPPB CERT1 TANGO2 MSTO1 MAP3K20 KLHL41 UBA1 GIPC1 PIK3CD PIEZO2 SLC6A9 LRP12 ITGA7 HP_LOWER_LIMB_SPASTICITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_SPASTICITY KLC2 OPA1 SLC25A15 SURF1 SATB1 PIGA WASHC5 FAR1 L1CAM RTN2 ERCC8 PLP1 KIF5A AP4E1 MARS1 SELENOI PNPLA6 GALC PGAP1 SLC30A10 UBAP1 CCT5 SIGMAR1 RARS1 VAMP1 EDNRB MTHFR LAMB1 TRMT10A AP4S1 ALS2 AP5Z1 CLCN4 FARS2 BCOR ERLIN2 MECP2 MAN2B1 ATXN10 ERCC6 DARS1 MTRFR ZFYVE26 ARG1 NEXMIF DNAJC19 IFIH1 ZFYVE27 STXBP1 HPDL SAMHD1 ERLIN1 TECPR2 SLC16A2 MRE11 SPART PAX3 NDUFA2 MAG AFG3L2 CPT1C GATAD2B COQ5 SPG11 CYP2U1 ATL1 GJA1 MTFMT WDR45 REEP1 TTC19 GAN SATB2 GPT2 SPG7 NIPA1 ACTL6B CYP7B1 WDR45B PDHX SOX10 IBA57 VPS41 RNASEH2B PPP1R15B IDUA TACO1 AP4M1 HSPD1 NT5C2 MED13L SLC2A1 LIPT1 ARL6IP1 ZFR SLC19A3 CACNA1D FA2H SYNE1 RARS2 KIF1A C19orf12 CAPN1 NDUFS8 REEP2 DSTYK ENTPD1 ADAR PDHA1 CYP27A1 ABCD1 VCP DDHD1 CCDC88C DDHD2 RNASEH2C ATP6AP2 GBA2 MTPAP RAB3GAP2 COASY SPAST ARSI MT-ATP6 ERCC1 SDHAF1 GJC2 RNASEH2A ARX PET100 GBA TREX1 KDM5C ADGRG1 SETX NDUFA9 NDUFA12 NDUFAF6 NDUFS2 SACS NDUFS3 KIDINS220 SRPX2 INPP5K COX15 NEU1 AMPD2 PEX3 ATP13A2 FLRT1 NDUFA10 WDR48 DNM1L NDUFV2 TBCD GOT2 NDUFA13 B4GALNT1 NDUFV1 TFG NDUFS7 ALDH18A1 BSCL2 AP4B1 ODC1 NDUFA4 VWA3B VPS37A NDUFS1 LYST HACE1 ALG9 POLR3GL PI4KA MICOS13 PRRT2 AIMP1 SDHB GFM2 SLC33A1 SOD1 STUB1 SDHA PEX16 SLC1A4 USP8 FOXRED1 AIFM1 ATRX KY GBE1 TOE1 UCHL1 INTS8 NDUFS4 FBXO7 POLG NDUFAF5 ERCC4 NDUFAF2 PSAP OPA3 TBCE ECHS1 FUS PNP BTD SDHD SPG21 HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_PYRAMIDAL_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_PYRAMIDAL_TRACT BAZ1B RAD51 FUS SLC25A15 NEFH GTF2I GAN WASHC5 DCTN1 GALC PDHB PRNP GTF2IRD1 PLP1 RAI1 PLA2G6 DEAF1 DCC CLIP2 NTN1 MT-ATP6 RTN2 CHCHD10 ABHD11 ABCD1 L1CAM FLII C9orf72 KCNC3 VAPB TBK1 ELN ATXN8OS SLC33A1 GTF2IRD2 MAPT EIF4H SQSTM1 SOD1 LAT2 DNAL4 STX1A NCF1 AIFM1 VCP RFC2 FKBP6 CLDN4 DNAJC30 SPG11 VPS37D UBAP1 SPAST SLC2A1 SLC19A3 MLXIPL PRKRA TARDBP L2HGDH ALS2 BUD23 FKTN SLC6A3 TMEM270 ATXN10 DPYS METTL27 BCL7B TBL2 CTC1 CPT1C ATL1 SPG7 LIMK1 IQSEC2 CLDN3 NIPA1 TREX1 PRPH HP_RIGIDITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIGIDITY MME PTCD3 MAPT JPH3 PSAP HTT CACNA1A RAB39B RYR1 ATP6AP2 KIF11 ADAR TMEM240 PTS SLC30A10 DNAJC6 SYNJ1 GCH1 PRNP ATAD1 ADH1C LRRK2 GLB1 CDK19 ARSA SLC13A5 EIF4G1 STXBP1 KRAS VPS35 KCNA2 GABRG2 IFIH1 DHDDS SAMHD1 GPHN LOXL1 PODXL POLG2 CNKSR2 GBA NECAP1 CLTC SLC6A3 TH GABRB2 COQ2 GIGYF2 CELF2 PDGFRB WDR45 NTRK2 PINK1 SLC6A5 GABRA2 TRAK1 TBP HCN1 ATP1A2 GALC SLC1A2 SNCA WWOX POLG VPS13C RNASEH2B RANBP2 HTRA2 CHMP2B PLAA GLUD2 KCND3 DNAJC13 ARV1 GABRA1 GLRA1 C9orf72 ATXN2 ATP13A2 GLRB PNKD LNPK ATP1A3 FGF13 MT-ATP6 SLC19A3 RRM2B PARK7 ATP6V1A NOTCH2NLC ACTL6B TAF1 EIF2AK2 SLC25A4 PDE8B DAB1 OPA3 GCDH PLA2G6 UBA5 FGFR1 PANK2 AP3B2 DDHD1 DNM1 SEMA6B SIL1 RNASEH2C SCN2A TK2 FMR1 KCNB1 MYO5A SNCAIP SCN1B UBTF FBXO7 ATXN8OS LDHA GJC2 SPR RNASEH2A UQCRC1 SCN1A TREX1 NDUFAF6 CSF1R FOXRED1 HTRA1 MICU1 HLA-DQB1 SMPD1 ATXN3 GABRA5 FTL PRKN CYFIP2 NUP62 TSPOAP1 JAM2 CACNA1B PARS2 ARX ABCA12 CASK AARS1 SCN3A CP UCHL1 EEF1A2 KCNA4 C19orf12 DCTN1 ACTA1 NR4A2 SCN8A TUBB4A ITM2B DHCR24 COASY YWHAG FRRS1L SYNGAP1 MECP2 FGF12 SLC2A3 RNU4ATAC ASPA STUB1 PCDH19 PDGFB SLC1A3 ATL1 TWNK GRIN2D BRAT1 PRKCG PPP3CA CTSD REEP2 NUS1 SCN9A DALRD3 SZT2 INPP5K SLC20A2 AFG3L2 CRYAB PRRT2 HP_SPASTIC_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_GAIT BSCL2 VCP DDHD1 NT5C2 CACNA1G DDHD2 WASHC5 SLC25A15 KCNA1 B4GALNT1 ATAD3A RTN2 PLP1 ATP6AP2 KIF5A SPG7 GBA2 ARSI MFSD2A ALDH18A1 ALS2 APC ABCD1 PGAP1 SPART CCT5 AP5Z1 CYP7B1 DSTYK FAR1 SACS SLC33A1 FARS2 AMPD2 HSPD1 ARL6IP1 ZFR GJC2 VAMP1 USP8 ATL1 C19orf12 WDR26 KIDINS220 KIF1A SLC39A14 ZFYVE26 ARG1 REEP2 SPG11 UBAP1 SPAST WDR48 ZFYVE27 ERLIN2 ERLIN1 FBXO7 TACO1 LMNB1 TECPR2 MECP2 SHMT2 CPT1C CYP2U1 REEP1 NIPA1 UBA5 KCNA4 HP_GAIT_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GAIT_ATAXIA MME MRE11 PSAP HTT PDYN ITPR1 PRNP TBC1D2B FLVCR1 EIF2S3 GRIN2A PCNA ATP1A3 SPTBN2 TECPR2 VPS51 TUBB4A ADAR DKK1 MT-ATP6 ATXN3 TMEM240 SLC9A6 GABBR2 UROC1 WWOX STXBP1 LMNB2 DNAJC6 GCH1 GRID2 PIGG VPS41 RUBCN ADSL RFXANK ARSA MT-ND3 FGF14 ATXN10 RFXAP IFRD1 MT-ND1 CACNA1A MARS2 VLDLR PRKCG LMNB1 POLG2 MT-ND4 PNPLA6 DOCK3 RNF113A CHAMP1 POLG TH ARID1B COQ2 DNAJC3 ANO10 VPS13D TWNK SH3TC2 SNRPN SLC25A46 SCN1A MT-ND2 WDR26 TBP LARS2 CACNA1G PPP1R15B AFG3L2 CDKL5 ALDH18A1 SCYL1 NPC1 CIITA ARCN1 FMR1 PDP1 MT-TW ERCC3 GPAA1 KCNC3 SYNE1 CLCN2 IQSEC1 ERCC2 SETX MPZ BEAN1 ATCAY FAT2 FXN FA2H ELOVL5 APTX ATXN2 ELOVL4 GABRA1 AP2M1 RRM2B UBTF SLC19A3 RFX5 CAPN1 MECP2 EIF2AK2 SLC25A4 RFC1 ATP1A2 TGM6 GTF2H5 SQSTM1 GTPBP2 RAB11B GABRG2 CCDC88C PEX10 PPP1R21 CWF19L1 SCN2A MT-ND5 MTPAP EEF2 PAK1 GBA2 SCN1B SYNJ1 MPLKIP BSCL2 AP1S2 HSD17B4 SIL1 PMPCA OPHN1 GRIA2 SACS NTNG1 GRM1 KIF1C MAN2B1 ABCA2 HLA-DQB1 NEFL CTBP1 TMEM106B NUP62 ATP13A2 TANGO2 HERC1 TSPOAP1 MT-TK AASS DEAF1 SCARB2 PLD3 TARS1 SDHA ATXN8OS TPP1 NUS1 SPG7 STUB1 SLC18A2 UBA5 SMC1A GJB1 TCF4 FDXR HPDL KCND3 COA7 CACNA2D2 TRPC3 RPL10 ATAD3A MT-TL1 SLC9A1 UBE3A TRIO EBF3 PLA2G6 GTF2E2 PEX6 C12orf4 RNU12 ERMARD MAB21L1 ATN1 MT-ND6 PCDH19 BRAT1 CLN8 POU3F4 THG1L MTTP PMP22 ERBB3 GDAP2 PODXL SCN9A MT-TV NARS1 NOP56 PRRT2 CAV1 CP CUL4B HP_BRADYKINESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRADYKINESIA TPM2 PANK2 GABRG2 MAPT JPH3 PET117 NEB HTT SLC6A3 SCN2A RAB39B SCN9A TK2 FMR1 ATP6AP2 EARS2 POLG SNCAIP SCN1B SYNJ1 PTS SCN1A FBXO7 PRNP ATXN8OS SLC30A10 DNAJC6 SPR GIGYF2 GCH1 FTL UQCRC1 ADH1C LRRK2 PLA2G6 PPP2R2B SLC39A14 STX1B ADGRV1 PRKAR1B EIF4G1 ATXN3 STXBP1 PRKN VPS35 PINK1 ATP13A2 ACTA1 COQ2 MECP2 TSPOAP1 JAM2 PRKRA DHDDS WDR45 GABRD PODXL TACO1 POLG2 VPS13A MYORG ATP1A3 GBA SNCA HTRA2 TH TPM3 ATP5MK PDGFRB UCHL1 TTC19 C19orf12 TBP DCTN1 NR4A2 COASY MYPN ATXN1 ATXN2 KBTBD13 PARK7 CHCHD2 VPS13C PDE8B HCN1 SLC2A3 KCNC3 DNAJC12 FARS2 PCDH19 PDGFB CSF1R GLUD2 ATL1 TWNK DNAJC13 GABRA1 RRM2B TAF1 EIF2AK2 SLC25A4 SLC20A2 KLHL41 HP_NEUROMUSCULAR_DYSPHAGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUROMUSCULAR_DYSPHAGIA TPM2 MAPT KLHL41 KBTBD13 ACTA1 FARS2 TPM3 NEB COQ2 MYPN GALC HP_BILATERAL_TONIC_CLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_TONIC_CLONIC_SEIZURE SARDH SEPSECS PSEN1 PCDH19 BUB1B SLC12A5 SCN9A DNM1L GRIN2A MT-ND6 PDHA1 MT-CO2 YIPF5 SCN1A MT-TV SRPX2 MAPT C9orf72 KCNMA1 NBEA SLC9A7 HIVEP2 ATP6AP2 TXN2 KDM5B CERS1 NPRL3 MT-TS2 SCN1B STXBP1 FRMPD4 PUS3 SCN8A GABRG2 NEXMIF MT-ND1 PTCHD1 CDH15 ARX SCN2A MT-ND4 KCNA1 MICAL1 COQ5 CSNK2B SLC6A1 PIGP KATNB1 ZMYND11 TRPM3 CACNA1A VCP MT-ND2 ATP1A2 CDKL5 CASK YEATS2 SYP DLG3 CACNB4 ACADVL CACNA1H PAK3 ALDH5A1 HNRNPU MT-TW CPA6 CABP4 AFG3L2 SLC2A1 EFHC1 SIK1 CACNA1D PLPBP KCNB1 CUX1 FA2H CERT1 ACADM DNM1 AP2M1 TSEN2 PRRT2 GRN MT-TC SETD1A KCNJ11 DMD CHD2 DLL1 ACSL4 CEP85L ZNF711 CNKSR2 MID2 DMXL2 PURA MBD5 LGI1 TRIM8 MT-ND5 GPHN SLC9A6 PRPS1 CDC40 PGAP1 RAB39B GPAA1 PGAP2 MT-TF CRH EPB41L1 GRIA2 GDI1 DEAF1 GBA BRSK2 GCK DEPDC5 RPS6KA3 COL4A2 ZNF142 ALG13 TANGO2 CAMK2B PNKP KCNQ3 TMEM106B MECP2 USP27X MT-TK HERC1 CSTB SETD2 TAOK1 CILK1 TBCD PDX1 KIRREL3 STX1B ASH1L SYNGAP1 EPM2A RAB11A COX8A DHX16 NHLRC1 NUS1 MT-TS1 MED12 TBC1D24 IQSEC2 FIG4 EEF1A2 KIF1A SLC7A6OS GRIN2B SQSTM1 DPYSL5 UPF3B GRIN1 USP9X GAL NARS1 SLC1A3 JRK CLCN4 CLN8 TSEN15 MT-TQ PEX5 FGF13 PSAP ABCC8 STARD7 POLG EXOC8 TMX2 TSEN34 CAMK2A BTD CHRNB2 NDUFS4 GAD1 CUX2 RPL10 THOC2 PSPH CHRNA4 FAR1 PIGL SLC13A5 GYS1 ADGRG1 KCNT1 ZNF41 PIGG PIGQ MTHFR CLTC ADGRV1 PIGV KCNQ5 HEXB ZNF81 MT-ND3 PCYT2 ADORA2A AGTR2 DHDDS APC2 GABRD VPS13A FTSJ1 PIGY KCNQ2 LBR RELN MAPK10 MT-TH MYT1L ATP6V1B2 PDSS2 CHRNA2 WDR26 GNAO1 RNF13 KCTD7 RORB GRIA3 NIPA1 SETD1B GABRB3 MT-CO1 VAMP2 PIGF TUBA8 TRAPPC11 NEK1 PIGS GAMT AFF3 LONP1 PTEN GABRA1 PIGW ATP1A3 FOXG1 NPRL2 ALDH7A1 SP110 SLC25A22 PGAP3 MT-TL1 UBE3A ARHGEF6 AP3D1 COQ2 KIF4A CHAMP1 ASAH1 MT-ATP6 PIGT NSD1 GNB1 NEUROD2 GABRA5 WAC CLCN2 MARCHF6 CIC CACNG2 CHMP2B CNTN2 STAT3 ACO2 SMC1A FRRS1L TSPAN7 HCN2 STUB1 PYCR2 HSD17B4 CLTCL1 STEEP1 MT-CO3 ST3GAL5 PIGO SLC25A19 IL1RAPL1 CPLX1 INS NDUFA4 LAMC3 HCN1 VPS53 HACE1 SET ASPA SLC1A4 MT-CYB TCF4 PPIL1 NDE1 DYRK1A MED12L TREM2 DOCK8 SPATA5 HCFC1 SAMD12 PPP3CA PHGDH TSEN54 SLC22A5 DYNC1H1 GPT2 HP_LIMB_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_ATAXIA ATXN1 MME GJB1 ABCD1 SYT14 TBP PEX10 KCND3 PDYN ITPR1 BEAN1 SLC9A1 AFG3L2 EEF2 SPTBN2 TBC1D23 RTN2 PRICKLE1 CYP7B1 WWOX SIL1 PMPCA TMEM240 KCNC3 CAPN1 GBA PRNP NOP56 SYNE1 CLCN2 ATN1 STUB1 VPS41 SETX MPZ POLG VAMP1 MAN2B1 FGF14 FAT2 COQ2 NEFL NKX6-2 FXN APTX ATXN3 PRKCG ELOVL4 GRID2 SCARB2 PMP22 ATXN2 WASHC5 MSTO1 ELOVL5 RUBCN FGF12 UBAP1 SCN1B JAM2 XRCC1 PLD3 COX6B1 SDHA RFC1 ATXN10 TGM6 ATXN8OS TPP1 SQSTM1 CXCR4 CP CSTB ANO10 VPS13D UBA5 HP_ABNORMALITY_OF_EXTRAPYRAMIDAL_MOTOR_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_EXTRAPYRAMIDAL_MOTOR_FUNCTION KLC2 PSEN1 GBA GBE1 GTF2I TOMM40 RAB39B SCN9A KIF5A ATXN3 SLC6A5 PTS SCN1A MAPT HEXA SLC18A2 C9orf72 DNAJC6 SPG11 PRNP GCH1 CLPB SLC39A14 GLRA1 ATP6AP2 TAF1 VCP STXBP1 GABRG2 APOE ARHGEF9 IFIH1 CDK4 SAMHD1 ATXN7 POLG2 MECP2 TBL2 MTHFS GIGYF2 PDGFRB SYT1 PINK1 ABCA7 TBP SNCA GLRB KBTBD13 POLG TERF2IP CHCHD2 FMR1 AP5Z1 VPS13C GPHN MITF ZFYVE26 DNAJC12 FARS2 GLUD2 MPO MC1R NCF1 FA2H ATXN2 ERCC4 TMEM106B CDKN2A DNAJC30 UBTF GRN RRM2B ACD VPS13A EIF2AK2 ADAR BCL7B KLHL41 OPA3 PLA2G6 RARS1 ATXN1 SLC2A1 PET117 NEB PLP1 SLC6A3 SCN2A TK2 XPR1 L2HGDH PPP2R2B PURA ERCC5 FBXO7 ATXN8OS TMEM240 ELN TREX1 ASNS SERAC1 TANGO2 LIPT1 EIF4H PDE10A SQSTM1 ETHE1 HPRT1 HLA-DQB1 PRKAR1B TRPM7 APP SLC30A10 FTL EIF4G1 SERPINI1 ACTA1 MGMT TBC1D24 TSPOAP1 JAM2 WDR45 SYNJ1 TACO1 BUD23 ATXN10 HTT DPYS HTRA2 CLDN3 GAMT LRRK2 UCHL1 LYST MYPN PLAA DNAJC5 PDE8B PSEN2 RBM10 SLC2A3 VPS35 DCAF17 PANK2 ATL1 ATP13A2 TREM2 ALG13 PRDX1 SPG21 TMEM270 SLC20A2 CTC1 AFG3L2 FUS JPH3 GTF2IRD1 NOS3 EARS2 CHCHD10 NDUFS7 SIGMAR1 ADH1C HEXB GLB1 STX1B ADGRV1 TSEN2 DHDDS TARDBP SNORD118 GABRD PODXL SNCB MYORG GM2A CTSF METTL27 TH COQ2 NOTCH3 SLC6A9 WDR73 TTC19 PSAP BAP1 POT1 C19orf12 NDUFA1 CAT NAGA RNASEH2B XPA TBK1 KCNC3 PRKRA ZNF592 DNAJC13 RFC2 GABRA1 ERCC2 TERT XPC UQCRQ DDB2 PARK7 SLC25A4 BOLA3 CYP27A1 PDGFB TPM2 RNASEH2C COASY CLIP2 SNCAIP SCN1B MMACHC ABHD11 DCTN1 SPR RNASEH2A UQCRC1 TSEN54 CDKN2B CLN3 HFE HTRA1 LAT2 MICU1 SORL1 STX1A PRKN FLRT1 CLN6 CHMP2B ATP1A3 TWNK TPM3 LIMK1 STUB1 ATP5MK CP PCBD1 BAZ1B NR4A2 SLC16A2 ERCC3 ALS2 HCN1 SOD1 GTF2IRD2 PCDH19 CSF1R TRAK1 FKBP6 CLDN4 VPS37D MLXIPL FKTN ACAT1 DDC PLAU HP_CHOREA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOREA SEPSECS TRAPPC11 MRE11 PRRT2 JPH3 IREB2 HTT SIX3 NDUFA9 MECR POU3F3 PDE10A FGFR1 NSUN2 ADAR C12orf4 TYROBP PTS GRIK2 STIL AIMP1 GNAS SIGMAR1 SLC6A8 GLI2 TNFAIP3 PIGQ CLTC CLPB WASHC4 KCNQ5 KCNMA1 NBEA SARS1 SH2B1 HIVEP2 ADA2 ZIC2 RHOBTB2 TAF1 MT-ND3 GRM7 KDM5B DHX30 ATP1A2 CACNA1B UBE4A MED25 SCN1B MRM2 MMUT UFSP2 NDST1 MT-ND1 CDH15 TSEN2 ATXN7 QDPR ZC3H14 MECP2 VPS13A MYORG MT-ND4 DCAF17 GM2A TECR SLC6A3 MED23 KCNA1 CSNK2B PIGP ZMYND11 TRAPPC9 SPG11 TRPM3 SCN8A MYT1L PDGFRB SYT1 DYSF IQSEC1 LMAN2L NKX2-1 GUF1 MT-ND2 STXBP1 NGLY1 AARS1 CLIP1 TBP GNAO1 FOXG1 CHMP1A TREM2 ACP5 CRBN METTL23 CDKL5 VPS4A PRSS12 CASK NDUFA1 SUCLG1 SHH NADK2 VAMP2 ST3GAL3 ERCC2 MT-TW ERCC6 GAMT PITX3 DCPS SLC2A1 NDUFAF3 SIK1 SETX SETD1B SPOP ADCY5 CUX1 FXN APTX ATXN2 C9orf72 PUM1 AP2M1 PDHA1 PNKD GCH1 UBTF ATP1A3 MT-ATP6 SLC19A3 CARS2 B3GALNT2 XPA DISP1 TTC5 UGDH FBXO31 GLYCTK RSRC1 EIF2AK2 FGF8 PNPT1 DLL1 GTPBP2 GCDH FRRS1L ATM SLC25A22 EZR PDGFB ATXN1 PANK2 HSD17B10 PRNP SCN1A MAN1B1 ACAT2 DMXL2 KIF5A ARSA MBD5 TRIM8 SLC25A42 XPR1 MT-ND5 NAXD SUOX HCFC1 MRPS34 PDE2A OPA3 SCN2A FBXL4 EDC3 COX20 PGAP1 AP1S2 GJC2 CHAMP1 EPB41L1 GRIA2 DEAF1 FTL BRSK2 NEUROD2 ATP7A LINS1 GRIN2B FMN2 ZNF142 CAMK2B SPR PNKP MICU1 HPRT1 CTDP1 DLAT TSEN34 CIC PLP1 HSPD1 NUP62 ALKBH8 GRIA4 CACNG2 MT-TK SCO2 TAOK1 KIRREL3 HNMT TNIK ASH1L SYNGAP1 RAB11A KIF1C ATG7 PSAP STUB1 ATP5MK CP SPTBN4 GPR88 NDUFAF5 EEF1A2 CACNA2D2 SLC12A2 ST3GAL5 PIGC CLCN4 MT-TL1 SLC16A2 TUBB4A KIF1A SLC30A9 ARX LRPPRC PLA2G6 MBOAT7 MICOS13 SLC45A1 NDUFS2 ALS2 DPYSL5 SLC2A3 GRIN1 ATN1 SET MT-ND6 TCF4 IRF2BPL PIK3R5 SLC1A3 CACNA1A MED12L TSEN15 GABRA2 DOCK8 NCDN NDUFB8 NDUFA13 ELP2 SURF1 MT-TV POLG PPP3CA TSEN54 SLC20A2 TUSC3 CC2D1A DYNC1H1 CRADD DDC NEMF FUS CAMK2A PIGN HP_PROGRESSIVE_CEREBELLAR_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_CEREBELLAR_ATAXIA ATXN1 FUS MARS2 SURF1 PEX10 HTT PPP2R2B MTPAP DKK1 GBA2 ATXN3 TMEM240 SPTBN2 CHCHD10 MVK MT-TE PET100 MME DARS2 VPS41 CLCN4 NDUFA9 NDUFA12 SQSTM1 NDUFAF6 NDUFS2 SACS COQ8A NDUFS3 MSTO1 VCP ATXN10 COX15 ATP6V0A2 ELOVL4 NDUFA10 CACNA1A PRNP GLS NDUFV2 TARDBP ATXN7 PRKCG NDUFA2 NDUFA13 TPP1 COQ2 NDUFV1 MTFMT NDUFS7 VPS13D GJB1 AUH NDUFA4 KCND3 SLC25A15 KCTD7 TTBK2 NDUFS1 PRDM8 EEF2 SCYL1 PEX6 C9orf72 KCNC3 RFC1 TBK1 ATXN8OS PDYN ATN1 TACO1 SDHA LIPT1 SLC19A3 FOXRED1 ATP13A2 ATXN2 NDUFS4 NDUFS8 NDUFAF5 TGM6 NDUFAF2 PDHA1 WFS1 ECHS1 ANO10 SLC44A1 HP_DYSDIADOCHOKINESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSDIADOCHOKINESIS ATXN1 TTC19 CLN5 GJB1 MRE11 CCDC88C ITPR1 SLC9A1 CARS1 PPP2R2B SPTBN2 PLA2G6 XRCC4 FA2H FMR1 SLC18A2 WDR81 PDE8B RFC1 GRID2 TTPA GCH1 GRM1 ATN1 AFG3L2 PDGFB POU3F4 MSTO1 ATXN10 ELOVL4 SLC30A10 ATXN2 ATXN7 NFASC ABCB7 XRCC1 VLDLR LMNB1 POLR3B SLC20A2 KCNJ10 DAB1 SQSTM1 SPG7 TUBB4A PDGFRB HP_MIGRAINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIGRAINE OPA1 BMPR1A GP1BB MT-TS1 MYD88 ENG MLH1 UBAC2 MT-TL1 PDGFRB IL23R MT-ND6 POLG MT-CO2 MT-TV SH2B1 KRAS NDP MT-TF GPR101 GP1BA MEFV CCR1 KLRC4 NOP56 RELN DEPDC5 FGFR3 MSH6 NLRP3 C4A ADA2 PGK1 ACVRL1 PIK3CA TGFBR2 RRM2B FAS MT-TS2 TNF SMAD3 PMS2 HLA-B MT-TK AMACR DNM1L AIP GABRG2 MLH3 MT-ND1 POLG2 IL12B TREX1 MYORG SQOR EPCAM TWNK MSH2 ESR1 MT-ND5 SLC2A1 GATA2 APP KCNA1 SCN1A TLR4 MLX MT-TH NOTCH3 FGFR2 ADAMTSL1 NF1 CACNA1A SLC1A3 MT-CO3 IL10 PRRT2 IL12A SEMA4A PMS1 MT-CO1 PEX11B RPS20 NFIX RELA RASA1 MT-TW STAT4 FAN1 COL4A1 GP9 RNASEH1 IL12A-AS1 SMARCB1 MT-CYB ZFTA CLTRN CSNK1D MT-TQ SMAD4 SPOP COL5A1 COL3A1 SRPX2 KCNK18 GDF2 LGI1 EDNRA STARD7 COPB1 ERAP1 TWIST1 MVK EPHB4 ACSF3 MT-TC SLC25A4 ATP1A2 GRIN2A SLC6A19 HTR1A MT-ND4 STIM1 PDGFB TNFRSF1A HP_MIGRAINE_WITH_AURA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIGRAINE_WITH_AURA CACNA1A TREX1 SCN1A ESR1 TNF ATP1A2 PRRT2 NOTCH3 KCNK18 CSNK1D EDNRA HP_TRUNCAL_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRUNCAL_ATAXIA ATXN1 ABCD1 SYT14 PEX10 VWA3B SLC1A3 CLN5 CWF19L1 HIBCH KCND3 ITPR1 NAT8L KCTD7 PPP1R15B POLR3A ADGRG1 TRAPPC11 EEF2 ATP1A3 SLC9A6 ATP8A2 GBA2 EBF3 SPTBN2 CEP120 ATP2B3 UROC1 CYP7B1 ATG5 WDR81 GRID2 PRNP DARS2 NOP56 SACS ATN1 STUB1 VPS41 FGF14 ATCAY NKX6-2 APTX ATXN3 SLC30A10 CACNB4 AP2M1 MSTO1 VLDLR COX6B1 COG5 MECP2 SDHA EIF2AK2 SHMT2 DAB1 HARS1 ANO10 VPS13D HP_HYPOPLASIA_OF_THE_CORPUS_CALLOSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_CORPUS_CALLOSUM RNU4ATAC SEPSECS LMNB1 EXOSC1 NF1 TAF2 PIGA BUB1B ZNHIT3 POU3F3 PDHB PTPN23 EIF2S3 MT-ND6 TECPR2 PDHA1 VPS51 NSUN2 GRIK2 KANSL1 AIMP1 SRPX2 GRIN2A RERE SPG11 C2CD3 OTUD6B WASHC4 MED25 SPTAN1 AP4S1 CTNNA2 SARS1 HIVEP2 ATP6AP2 RHOBTB2 NDUFA2 TBCE IER3IP1 GRM7 KDM5B ANKRD11 UBE4A AIMP2 MT-TS2 QARS1 RAB18 PUS3 MAP1B DARS1 MTRFR ZFYVE26 ZEB2 UFSP2 NDST1 CDH15 CDK13 SIN3A ASPM KIAA0753 IFIH1 STXBP1 EFNB1 SAMHD1 MDH2 NUP188 DDX3X AIFM1 CARS2 KCNA1 CSNK2B PIGP KATNB1 ZMYND11 TRAPPC9 TUBB3 TRPM3 ATL1 NEDD4L PAX6 RAC3 OTUD5 PDHX CRBN GPT2 USP7 CARS1 CDKL5 KIF2A SLC35A2 TREM2 CASK TUBB KCNK4 FAT4 CCDC174 SSR4 RSPRY1 AP5Z1 NANS SPATA5 PIGN UNC80 ADNP DOCK7 AHCY EHMT1 MAPK8IP3 AP4M1 FKRP CTNNB1 SIK1 ZFR SLC6A8 MED12L PLPBP COG4 OSGEP HUWE1 CUX1 RAI1 FA2H EPRS1 FDFT1 ASXL1 PUF60 TAF1 SLC25A10 PITX1 UBTF TSEN2 HNRNPK PPP2R1A B3GALNT2 RNASEH2C MT-TW CLP1 KCNT2 SETBP1 NRROS YWHAE NARS2 EIF2AK2 ADAR HIC1 DLL1 ARNT2 FRRS1L IFT52 RARS1 DYNC1I2 NEUROD2 DMXL2 GABRB1 PPP1R21 DIAPH1 TUBB2B ACER3 MBD5 TRIM8 PIGB YIF1B MAPRE2 ALG2 PSAT1 GBA2 COG2 MEF2C DCHS1 MACF1 PRPS1 ACTL6B PGAP1 KIF7 DYRK1A CNTNAP1 FBXL4 CEP120 TMTC3 DYNC1H1 CDK10 POMT2 WDR81 EPB41L1 NOVA2 DEAF1 SHOC2 GBA BRSK2 TREX1 ASNS LINS1 CAMK2B OCA2 PNKP GLUL KIFBP SACS DPAGT1 RNF13 COPB2 UBE3A FGFR3 DHCR7 TAOK1 GMPPB TBCD CRPPA MAP2K2 KIRREL3 RUSC2 HNMT NKX6-2 GOT2 KIF5C DAG1 ASH1L SYNGAP1 RAB11A FRMPD4 ARFGEF2 ATN1 DCX GNAO1 MOGS ATP6V1A IGF1R AP4B1 EEF1A2 PIGU SLC12A2 KIF1A LARGE1 POLR1C CYP2U1 GRIN2B POLR3GL PLAA TCF4 PSAP SMG9 TBCK SLC45A1 FKTN GFM2 GRIN1 KDM1A ERMARD ZNF462 USP9X MT-TF NARS1 GJC2 EXTL3 ADAT3 UBA5 AHDC1 TBC1D20 WAC ATP13A2 TSEN15 MT-TQ KIDINS220 TOE1 NCDN SOX2 VPS11 PDE6D SPG21 EXOC8 NFIA TMX2 CC2D1A CRADD TSEN34 CAMK2A HS2ST1 KMT2C NMNAT1 GAD1 RORA ERLIN2 ZMIZ1 REPS1 LONP1 CNOT3 WDR73 ARHGAP31 MT-TS1 EARS2 SLC13A5 SYNJ1 C12orf4 SLC25A24 FANCB FBXW11 PIGG PIGQ LAMB1 CLTC TRMT10A KCNQ5 EMC1 RTTN NBEA POLR2A PPP2CA RAB3GAP1 APC2 IBA57 BCOR LSS STAG2 SCN1B AP4E1 RAC1 ADARB1 HPDL ZC3H14 POLG2 TECR MED23 SHMT2 TMCO1 PARS2 MBTPS2 ARID1B LYRM7 MT-TH MYT1L WDR62 SLC6A9 RELN IQSEC1 LMAN2L ZNF148 WDR26 NHLRC2 CLIP1 CDC42 FOXG1 CHMP1A SLC1A2 PPP1R15B GRIA3 METTL23 TTI2 UBE3B ZBTB20 PRSS12 TRAPPC6B SON MFSD2A MT-CO1 MRPS22 NADK2 VAMP2 WWOX WDR45B ST3GAL3 NFIX PCLO RNASEH2B POLR3A WT1 GPSM2 ALDH6A1 TOGARAM1 SH3PXD2B NT5C2 HK1 DCPS POMT1 SETD1B NONO YY1 KAT8 COG6 SVBP TUBB2A MOCS1 LNPK PAH TTC5 FBXO31 GLYCTK FLCN RSRC1 ALG3 PRMT7 FGFR1 SCN3A ALDH7A1 TGFB1 MT-ND4 DDX6 POGZ SLC25A22 EZR COG7 SLC5A6 RB1 MAN1B1 AMPD2 DDHD2 TYROBP MT-TL1 PRUNE1 COX7B ARSI SNIP1 EBP EXOSC8 SCN2A CSPP1 EDC3 TRAPPC14 PCGF2 SLC1A4 ALG8 CHAMP1 RNASEH2A CEP290 DARS2 CNP GABRA5 FMN2 MT-CO2 VARS1 CIC MINPP1 TMEM106B PAFAH1B1 KCTD7 ASXL3 MOCS2 ALKBH8 GRIA4 FANCD2 CACNG2 TUBGCP2 MT-ND1 SMARCE1 EXOC2 NEXMIF POLR3B TNIK ACO2 TARS2 SMC1A MT-ND5 HTRA2 PYCR2 SIX6 TRRAP HSD17B4 FDXR VWA3B NR2F1 MT-CO3 PIGC CLCN4 UGP2 HACE1 GLRX5 TBC1D23 COASY NALCN ALX4 ARX KCNT1 MAF MBOAT7 STAMBP TUBA1A EXOC7 KCNQ2 VPS53 ZSWIM6 RALGAPA1 RAB3GAP2 YARS1 SET ALG12 BICD2 AKT3 NDE1 BRAT1 DOCK8 BRF1 PRKDC AP3B2 PPP3CA PCNT PHGDH GFM1 TSEN54 TUSC3 RMND1 CCDC88A PIK3R2 NEMF GFER SOX3 CUL4B HP_MIGRAINE_WITHOUT_AURA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIGRAINE_WITHOUT_AURA TREX1 ESR1 TNF KCNK18 CSNK1D EDNRA HP_ENCEPHALOCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENCEPHALOCELE PCYT1A TCTN2 TMEM107 SHH CC2D2A GAS1 ARHGAP31 SIX3 NMNAT1 POLR1D KIAA0586 KCNJ13 ALX3 RBPJ AHI1 TMEM138 LAMB1 TMEM231 EOGT USP45 ARMC9 INPP5E FGFR1 TGIF1 TMEM237 ESCO2 CSPP1 TMTC3 NID1 STIL HOXD13 B4GAT1 TCTN3 CEP290 GLI2 GDF6 HYLS1 TMEM216 C2CD3 RPGRIP1 ZIC2 CEP41 PTCH1 TCTN1 TCOF1 ALX1 RPGRIP1L B9D2 SPATA7 B9D1 MSX2 LRAT IFT140 FREM2 TULP1 ARL13B CRPPA POLR1B CPLANE1 AIPL1 IMPDH1 CEP104 ALX4 POMT2 SMO KATNIP DLL1 TMEM67 MKS1 CEP120 PIBF1 ZNF423 CBY1 ARL3 FRAS1 FLNA GRIP1 POMT1 FOXH1 DLL4 CRX TDGF1 CYP26B1 NODAL POMK IQCB1 FKTN CRB1 DISP1 COL18A1 ZSWIM6 RDH12 FGF8 FKRP RPE65 HSPG2 SUFU NOTCH1 POLR1C GMPPB CDON DOCK6 RD3 FLNB FGFR3 POMGNT1 NPHP1 VSX1 LARGE1 TXNDC15 LCA5 GUCY2D HP_OCCIPITAL_ENCEPHALOCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCCIPITAL_ENCEPHALOCELE CC2D2A COL18A1 POMT1 KIAA0586 GMPPB RPGRIP1L MKS1 LAMB1 B9D1 TMEM67 CSPP1 TMEM231 CYP26B1 TMTC3 POMK HOXD13 POMGNT1 POMT2 B9D2 B4GAT1 ALX4 SMO TMEM107 FKTN ARL13B MSX2 C2CD3 LARGE1 FKRP INPP5E HP_ABNORMALITY_OF_THE_UPPER_RESPIRATORY_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_UPPER_RESPIRATORY_TRACT TNFRSF13B SH3KBP1 NF1 RTL1 FCHO1 MGP ALX3 CFAP221 PPARGC1A HLA-DPA1 COL12A1 TAF15 LMNA PTPN22 DNAAF1 TERT DDRGK1 TAPBP KANSL1 CHMP2B HOXD13 LAMB3 RSPO2 ZAP70 C2CD3 IVNS1ABP IL2RG ARSL DNAAF2 NME8 EGFR SOX9 SPTBN1 ANKH EFL1 DNAL1 NHP2 DNAJB13 GALNS MAN2B1 P4HA2 RFXAP AGA IRF2BP2 ICOS IL7R CTSK MATR3 FREM2 SCNN1B TBK1 GABRG2 NIN DNAAF3 CFI MSH6 CCDC65 ODAD1 GIPC1 SFRP4 ANXA11 STAT3 RSPH3 DYNC2H1 EP300 CIITA KRAS SYT1 CYBB ANO3 PIK3CD KATNIP GRIP1 CCDC39 SRP54 ANG GUSB MKS1 CCDC103 KCNMA1 CHEK2 HSPG2 PARN NFIX RSPRY1 DKC1 BRF1 PLP1 ALMS1 ZNF699 DNAH11 MEG3 ADNP FCGR2A MED12 ARSB WAS MSH2 LAMC2 CFAP300 UBQLN2 DNAAF11 HS3ST6 LBR COG4 GAS8 RAI1 TNFSF12 CREBBP TINF2 BTK ATRX NEK10 TGFB1 CR2 SMARCC2 NFKB2 RFX5 CD79A CDKN2A SETBP1 GNS MDM2 KCNJ2 CHD7 DNAH5 RPGR ADA PRKCD DCLRE1C NFKB1 ATM RNF168 NOTCH2NLC MLH1 SEC24C TBX1 ARID2 SPECC1L COMT GMNN COL5A1 RSPH4A JMJD1C SQSTM1 MAGT1 IGLL1 POR PLG WDR35 DNAH9 JAK3 FUCA1 RAG2 TP53 HLA-DPB1 KIF22 SLC29A3 ARID1B KDM5C RUNX2 NOTCH2 RSPO1 DNAAF4 IGSF3 SHH TTC12 FLNA TREM2 UNC13A VPS13B GLI3 FMR1 SMCHD1 NEK1 STK11 DOCK8 AFF4 HNRNPA1 USB1 DNAAF6 PSMB9 PORCN VCP EDN1 DNAI1 IKBKB FOXJ1 F12 FGFR2 HIRA DLK1 SCARF2 PSMB8 PRKAR1A CYBA AICDA MDM4 FGF10 PFN1 IGHM MYSM1 PON2 KRT14 MYMK RPL10 MST1R IL17RA PRPS1 RAC2 TBX3 NBN NCF1 KAT6B ODAD3 FERMT1 LRBA PON3 SIAH1 PUF60 OPTN ERBB4 FOXN1 USP9X SATB2 TONSL MS4A1 EXTL3 IL6R AHDC1 ARVCF CAPN15 CTC1 STK36 FCGR3A FLNB RREB1 SCN4A CTLA4 PSAP HAAO HPS6 CXCR4 LTBP3 LRRC56 RAF1 LEPR SOX11 BTD CD19 GFI1 ODAD2 STX3 SCNN1G DNMT3B HYLS1 TAP1 RSPH1 DYM CFAP410 TAP2 CD81 TERC LEP HGSNAT LONP1 RFXANK IDS DYNC2I1 TARDBP UNG VAPB NLRP12 ALX1 SERPING1 IFT80 CCNO MID1 RSPH9 NLRP1 DRC1 ADARB1 RAG1 NAGLU FGFR3 CCDC40 SBDS DYNC2I2 MGAT2 DPF2 PTH1R WNT3 NCF2 TCOF1 TNFRSF13C SEMA3E BLM CD4 KIF7 SPEF2 SMARCB1 GLB1 HDAC4 MAP3K7 PON1 GALC UBE3B CAT PNP HLA-DRB1 CD79B AMER1 PKDCC CARMIL2 NOP10 FGFR1 CFAP298 GLE1 LRRC8A UNC119 PRRX1 CFTR ADA2 ODAD4 INTU SMARCA2 CYBC1 DNAJC21 TP63 TRIM37 FUS NCF4 CASR APC PSMB4 PIK3R1 NPM1 LAMA3 SLC26A2 FOXP1 MCIDAS SMARCD1 PDE4D SALL4 TAF1 PRMT7 TCIRG1 ORC6 LRP4 PGM3 HYDIN ARID1A SOX4 FOXE1 PRTN3 SMAD4 DNAH1 GJA1 WRN SH2D1A SNIP1 COL5A2 ELANE ATXN2 C9orf72 SMARCE1 DNAI2 KRT5 SIX2 CHCHD10 SPAG1 ATP6V1E1 FIG4 PABPN1 ASXL3 SMARCA4 ZMYND10 EIF4A3 HLA-B IL21R STXBP2 KAT6A STAT1 CCNF FRAS1 GAS2L2 SF3B4 DCTN1 BLNK POLR3A GNPTAB WIPF1 UFD1 SOD1 RTEL1 SCNN1A TBC1D24 WRAP53 ACP5 DHCR7 COL11A1 LTBP4 RALGAPA1 GLT8D1 SGSH GP1BB ALG12 EPHA4 MEIS2 OFD1 TSPYL1 DAO NEFH TCF3 DNAAF5 SRPX2 PRPH MT-CYB PCNT ASAH1 TCTN3 GRIN2A XIAP IRF8 TNFRSF1A LRP12 HP_PULMONARY_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_HYPOPLASIA WNT4 TENT5A KDELR2 SPECC1L MKKS KIAA0586 B3GALT6 LIFR STRA6 DONSON SLC18A3 TRIP11 BMPER PEX1 RTL1 SLC25A24 CSPP1 BCOR CDC45 WDR35 COL2A1 ALG9 NUP88 CHRNG DOK7 PKHD1 MCTP2 ASCC1 NSDHL DYNC2I1 MYRF FAM20C MBTPS2 MYH11 RARB NEK1 IFT80 RLIM TMEM94 DPAGT1 FUZ DHCR7 FREM2 MYH3 SLC26A2 LMOD3 DYNC2I2 PSAT1 ACTA1 ETFA SMO ITGA8 VANGL1 PIEZO2 DYNC2H1 AARS2 FRAS1 COQ7 AGT MYOD1 ETFDH LGI4 MUSK FLNA NPHP3 NDUFB10 GRIP1 PIGN NKX2-6 WT1 MKS1 GLE1 PHGDH ADGRG6 FGF20 GLDN HSPG2 DZIP1L ATP5F1A KAT6B ZMPSTE24 RET MEG3 ETFB CEP120 RBM10 LTBP4 CC2D2A WNT3 TAPT1 RYR1 CHRND INTU LBR RAPSN NEB ACE CHRNA1 FLNB AGTR1 PLXND1 LMNA KLHL40 GATA6 CEP55 SETBP1 NEK9 NAA10 REN ZFPM2 ALG3 TCTN3 INVS GREB1L TRIP4 NEK8 FANCB DLK1 IFT81 PTH1R KLHL41 HP_PNEUMONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PNEUMONIA TNFRSF13B RNU4ATAC PTCD3 DLL1 LMNB1 RAG1 FCHO1 PANK2 GFI1 IFNGR1 TPM3 KNSTRN PTCH1 KMT2D PDHA1 NFKB2 DNMT3B ZIC2 SLC25A24 LAMB3 CRLF1 ICOS TNFRSF11A CD81 NTRK1 PKHD1 ZAP70 TDGF1 FGF8 FOXP3 NCF2 PTPRC IL2RG GLB1 MYH6 EGFR CSF2RB MYL2 DCLRE1C MAN2B1 DISP1 CD247 FCGR3B ADA SIX3 SGCG RAC1 LAT FGFR1 SDHD CCDC40 SBDS TBX20 COL11A2 CD19 GAS1 GRHL3 DPF2 FOXH1 SYK CARD11 GIPC1 TNFRSF13C EFEMP2 KATNB1 EP300 SCNN1A JAK3 ATP6V1B2 PIK3CD SMARCB1 NKX2-1 GLI2 NODAL HACD1 IL7R SRP54 STAG2 RYR1 ACTA1 ACP5 CYBC1 CYBB GBA CCDC39 PNP CD79B NADK2 P4HTM NFIX CARMIL2 IGBP1 PLOD1 SHH PIGN ALMS1 ZNF699 CHD7 FCGR2A UNC119 WDR1 WAS STAT3 COL4A6 LAMC2 RAG2 SCNN1B CFTR PEPD HLA-DQB1 SMARCA2 CD3E TPM2 DNAJC21 TNFSF12 LONP1 GATA4 KIAA0586 BTK AP3B1 TGFB1 CR2 TGIF1 SMARCC2 COL4A5 CITED2 EFL1 LAMA3 SLC35A1 MCIDAS TREX1 SETBP1 SMARCD1 CFAP410 ACTC1 NOS1 TAF1 CDON MTHFD1 TCIRG1 TK2 POLA1 ORC6 CASP8 MED25 SP110 NFKB1 PGM3 RNF168 ARID1A CACNA1C ITGA7 ABCA3 PURA SOX4 ARID2 SLC35C1 NCF1 SMC1A SREBF1 SELENON TFG SMARCD2 MYO1H TIMM8A FUZ EPM2A FANCF ZBTB24 ASAH1 UBB ACADVL RANBP2 ARID1B SCNN1G SMARCE1 DNAI2 NIPBL CYBA HLA-DQA1 LEP KDM6A NBN SNAP29 CREBBP IL12RB1 DOCK8 AFF4 SAMD9 USB1 FBLN5 ODAD1 SFTPB GATA6 FMO3 PAFAH1B1 NKX2-5 SMARCA4 CD27 ODAD2 TLL1 CD55 IL21R KPTN DNAH11 NHLRC1 PLA2G6 AASS CFB PMM2 TBC1D24 IGHM GNPTAB IL17RA TBCD RAC2 DZIP1L VPS33A DRC1 MASP2 LRBA DDR2 SIAH1 FOXN1 CSPP1 WDR19 KCNJ6 GAS8 ALG12 TONSL OFD1 MS4A1 EXTL3 SFTPC NDE1 RNF125 OSTM1 BLNK BLM PRKCD STK36 ELANE LIG4 MAP3K20 IGLL1 DNAI1 CD3D RMRP CSF2RA CXCR4 LTBP3 IRF8 SOX11 PKP1 HP_RESTRICTIVE_VENTILATORY_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESTRICTIVE_VENTILATORY_DEFECT HLA-DRB1 B3GALT6 GNPTAB AK9 PRTN3 NLRP3 MT-TN NFKB2 SELENON HLA-DPA1 CHCHD10 HLA-B SLC34A2 MYO1H TNFRSF13B RTL1 ICOS FKRP CD81 CHRND PIEZO2 TTN COL13A1 CSF2RB IDS HPS1 CR2 CHRNB1 GALNS SGCG SCN4A TOR1A DNASE1L3 CHRNA1 HES7 RAPSN BTNL2 HPS4 GZF1 GIPC1 MT-TL1 MEGF10 DNAH11 COPA DOK7 CD19 SLC12A6 TSC1 GLB1 ENG TSC2 MYH7 FRG1 CHRNE FARSA TNFSF12 TRAPPC11 PYROXD1 SYNE1 PLOD1 DDR2 ALMS1 ACP5 CSF2RA MEG3 MT-TS1 TNFRSF13C MS4A1 STAC3 MUSK PTPN22 MESP2 LRP4 DKC1 HLA-DPB1 FLNB IKZF1 PRKCD COL2A1 NKX2-1 FGFR3 RNU4ATAC AGRN CTLA4 DLK1 NFKB1 MT-TL2 RNF168 LRP12 HP_RESPIRATORY_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_INSUFFICIENCY DYNC2LI1 PPARGC1A CHRNB1 TAF15 SLC18A3 TPM3 GAA AGK B3GALT6 RNASEH2A BMPER EGR2 WDR19 MUSK LAMB3 LMNA TK2 TTN PAX7 ARSL MYO9A SPG11 PEX3 CHRNE SEC63 ACVR1 DES PEX12 MATR3 TBK1 POLG2 LMOD3 RAPSN CCDC65 LIAS GLS CSGALNACT1 CHRNA1 ANXA11 DOK7 DYNC2H1 TNPO3 LIPT2 TMEM70 SLC25A46 HACD1 CCDC39 MCCC2 NDUFAF3 SLC19A3 DYNC2I2 CCDC174 SHH KBTBD13 CPOX CHRND LARS2 PLP1 GMPPB SFTPB MEG3 CDT1 PEX7 AHCY LAMC2 DYNC2I1 CFAP300 UBQLN2 DNAAF11 SLC7A7 GAS8 NDUFA10 TRAF3 HYMAI NEK10 MYO1H MYOD1 CNTN1 MT-ND1 PHOX2B PEX19 RFT1 RRM2B TPI1 SLC25A1 MTM1 SMARCA2 NDUFS8 COL6A3 FLNA DNAH5 SELENON KLHL41 SPEG COL13A1 CPS1 NEB UBE3B SLC25A20 ORAI1 RSPH4A FGFR2 FAT4 CYP27A1 WDR35 DMPK DNAH9 TLR3 ORC4 CHAT HLA-DPB1 POMK PMP22 KIF22 ABCA12 TTC12 TREM2 SUCLG1 UNC13A GLUL HRAS INPP5K COQ9 TOR1A DNAJB13 HNRNPA1 FGFR1 DNAAF6 UNC93B1 TPM2 POLR1B RUNX2 KAT6A FOXJ1 RYR1 OSTM1 FBN1 CISD2 VRK1 DLK1 GLI2 NDUFS3 COL6A1 SYNE2 AIFM1 PON2 MYH7 BDNF PSAP COL1A2 TBCD EXOSC3 PLEKHG5 LARGE1 MYPN DZIP1L ODAD3 LAMA2 SMPD1 NDUFS4 DISP1 DNAAF3 SLC25A4 ERBB4 GFPT1 FLNC CFL2 ABCA3 FHL1 CPT2 ACE GLE1 YARS2 POLR1C PLOD2 MTTP TRMU SLC27A4 KLHL40 TRIM2 LAMB2 STIM1 G6PC3 TRPV4 LTBP3 SUCLA2 CRYAB ABCB4 CEP120 PTCD3 SMPD4 MYD88 STRA6 HIBCH RNASEH1 AHDC1 ODAD2 RIPPLY2 STAT2 BCHE SLC13A5 SLC25A24 COA8 NDUFS7 IFT80 CHRNG SBDS PEX26 GRM7 PRKCSH CSF2RB MYL2 IBA57 MESP2 NDUFS1 TARDBP ZIC2 TCOF1 HADHA VAPB MT-TT TBCK PLEC CCNO DRC1 HPDL TRIP4 NDUFA6 COL1A1 JAK2 EFEMP2 MYF6 PRPS1 SIX3 MADD SLC6A9 TSEN54 SH3TC2 SPEF2 GLA FARSB ZC4H2 CDC6 SLC34A2 MARS1 PEX5 FLAD1 SON NFU1 IGHMBP2 NDUFAF2 DPAGT1 GDNF FKRP DPYD LRP4 FLNB TNNT1 FUS RSPH1 NDUFV1 NKX2-1 MCIDAS NME8 BOLA3 NEK1 SNRPB ALDH7A1 ODAD4 NDUFAF1 IFT140 ACTA1 HADHB COG7 NDUFS2 PRTN3 SMAD4 DNAH1 GARS1 HCCS ITGA3 RMRP TET2 LAMP2 SNAP25 TICAM1 ACOX1 FOXRED1 NDUFB11 SEPTIN9 MT-TN UFM1 DST DNAAF1 MBTPS2 PHYH AAAS TTC21B MFN2 COL12A1 LTBP4 SCO2 HES7 SPAG1 ZMYND10 FAM20C DNAL1 MGME1 GAS2L2 FGFR3 NDUFB10 NDUFAF8 DCTN1 IFT172 MT-ND3 CLCF1 DNM2 NDUFS6 ATXN1 BIN1 RALGAPA1 GLT8D1 CCDC40 FGF8 POMT1 CTSD PRPH BLM NDUFB8 SURF1 OFD1 TUFM MAP3K20 FKTN ORC6 CSF2RA STK36 PEX6 RTL1 MYL1 GALK1 LFNG CFAP221 ERF HLA-DPA1 PDHA1 FOXI1 SLC25A3 CHMP2B SPOP NR1H4 SF3B4 PKHD1 CLPB FCSK GPX4 HMBS SOX9 ALG1 NAXE SCN4A PEX10 KIAA0753 NUP188 PLAGL1 ODAD1 LBR GIPC1 MT-TE MEGF10 MCM4 RSPH3 EDN3 ATP8B1 ERBB3 ANG SLC26A4 PEX16 TSC1 HSPG2 ERGIC1 ACADVL TSC2 DNAH11 MLYCD PIP5K1C SLC25A26 PLPBP AGTR1 SMN1 COL3A1 GMNN SYT2 NPC2 NDUFB9 REN SLC26A2 CHD7 RPGR OCRL MTMR14 WFS1 CLCN6 COL11A1 RNF168 ITGA7 COLQ POLR1D TFG NDUFAF4 SQSTM1 DNAAF2 CNTNAP1 BSCL2 MPZ POMT2 MYBPC1 KCNJ10 TRAF7 NDUFV2 ASCC1 ASNS ACTN2 CUL7 DNAAF4 MYH11 GLI3 PBX1 ATAD1 NSUN2 SHPK NPHS1 FBLN5 MYH3 MT-ND2 VCP NDUFAF5 STIL GTPBP3 CANT1 TSFM DNAI1 DAG1 UBA1 PLOD1 MT-TL1 PIK3CD MCCC1 DNAJC21 PFN1 TRAPPC11 MICOS13 NALCN PLAA NDUFA1 PEX2 ABCB11 PON3 OPTN KCNJ6 NFS1 NUBPL SFTPC SLC52A2 PEX14 USP18 BAG3 NFASC SARS2 COX7B COL11A2 MECP2 AGRN CTLA4 MAMLD1 SLC5A7 LRRC56 TENT5A NDUFA9 EXOSC9 KNSTRN ASAH1 COX14 PEX1 DYM CFAP410 NUP88 LRP5 INPPL1 SLC2A10 FOXF1 NUTM2B-AS1 COL6A2 ALG14 DMD COL2A1 TMEM43 COQ4 KIT SEMA3E PIEZO2 LYRM7 XYLT1 AGT ZNF148 NHLRC2 DLL3 MORC2 PON1 MPL GALC MYMK PLCB3 CFAP298 ALAD ADAMTS3 POGLUT1 AFF3 LONP1 ORC1 VMA21 LAMA3 HSD3B2 TMEM231 DSP INVS HYDIN MT-TL2 KDELR2 GNPTAB AK9 SRP54 LIFR PEX11B POLG EXOSC8 COX6A2 MYOT DPM2 ATXN2 C9orf72 SYNE1 FUT8 CHCHD10 CRLF1 PURA STAC3 NBN FIG4 NDUFA11 AGGF1 MRPS14 GATA2 HTRA2 CCNF CDC45 C19orf12 DNAI2 CCBE1 SLC52A3 LIG4 LRPPRC SOD1 VAMP1 RSPH9 JUP TIMMDC1 MT-TS1 PEX13 CCDC103 EXOC6B RNU4ATAC EPHA4 BICD2 TSPYL1 PTPN22 DAO TWNK NEFH DNAAF5 FKBP10 NSF NDUFB3 TMEM126B DDC IFT81 GMPPA EMD LRP12 HP_DYSPNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSPNEA B3GALT6 RTEL1 HBB PPARGC1A CAV1 TAF15 SLC18A3 GAA KRT6B TRIP11 BMPER DSP EIF2AK4 MUC5B TRPV6 CHMP2B GNAS LAMB3 JPH2 TTN COL13A1 MYH6 FIP1L1 TGFB2 PLCB4 VCP AIMP2 STX16 MMUT ABCG5 SCN4A MT-ND1 MATR3 TBK1 MYO9A POLG2 DNAAF3 TBX20 MT-ND4 BCOR MT-TE GATA4 SDCCAG8 ISCU ANXA11 MEGF10 COPA DOK7 HEY2 MYLK ERF NKX2-1 MT-ND2 ENG ANG ATP1A2 ACADS CHRNE FBP1 CYB5R3 TSC1 MMAB SUCLG1 SSR4 ERGIC1 COL1A2 TSC2 DMPK FOXF1 NDUFA8 ALMS1 SFTPB ADNP CDT1 POMT1 LAMC2 SCNN1B DPM2 LMNA ADCY6 TNNT2 HLA-DRB1 UBQLN2 DPM1 CASR ACADM COL4A5 GMNN BMPR2 SLC35A1 GATA6 SYT2 CHRNA1 RRM2B SETBP1 MYBPC3 NKX2-5 ZFPM2 SLC25A1 DISC1 STN1 FGFR2 PRRX1 MRPL3 PML TLL1 PIGA IFT52 SMAD4 CRELD1 PURA MYL3 COLQ UBE3B PPP1R21 MT-ND5 DNA2 TFG SQSTM1 ORC1 MYH11 DBH IL1RN ORC4 NPPA TRMT5 CHAT HLA-DPB1 CHRND EOMES IRF5 TREM2 UNC13A MPC1 ZBTB16 HNRNPA1 LDLRAP1 IRAK1 NOD2 ACTA2 MT-TK PIGT HLCS PYGM RAPSN GTPBP3 TERT RUNX2 KAT6A MAPT DHX16 DNAJC21 RPS26 COQ7 PFN1 ETFDH PMM2 TBC1D24 CNTNAP1 ABCC6 TET2 PON2 SFTPA2 TBX4 BAP1 CREBBP CCN2 SIK1 PON3 STAT5B ETFB PUF60 OPTN ERBB4 USP9X VCL KCNJ6 TNNC1 ABCA3 PRKAR1A NR2F2 SLC1A3 SFTPC CPT2 ARX GYG1 TRMU CITED2 COL2A1 SCN5A COX7B LAMB2 EP300 AGRN PSAP SLC5A7 LTBP3 KCNA1 TUBB4A PRRT2 BTD SLC25A3 ATRX RPS28 NAGS FBN1 FOXE3 COA8 CFAP410 SBDS APOB DNAJB6 SLC2A10 FOXP3 SH2B3 CSF2RB EPOR NUP214 PCSK9 ACVRL1 ZIC3 STAT4 MT-ND3 EDN1 TGFB3 TARDBP CHRNB1 VAPB PRKCSH NABP1 NDUFB11 DNASE1L3 RARA MGAT2 ETFA FLNC MGME1 SCNN1A ATP6V1B2 RELN LIFR GLA RNF13 SFTPA1 PON1 CDC6 SLC34A2 MARS1 GALC LOX FGFR1 TBL1XR1 MT-TW GLE1 ZMPSTE24 SOX9 ELN COL4A6 PLEC NDUFAF3 EDA MUSK LRP4 NEB FUS MFAP5 IKZF1 PNKD STT3B ATP1A3 CYB5A LAMA3 SCN1B CFTR ACTC1 ATP11A SLC25A4 NEK1 TK2 ORC6 NUMA1 KRT17 SLC12A3 PARN IRF2BP2 NEMF LYRM4 JAK2 KIF20A TGFBR2 ENPP1 AK9 GBA SRP54 CLCNKB MMAA NGLY1 HLA-B HCCS ITGA3 POLG SERPING1 DPP9 WAS CSPP1 AIFM1 EFTUD2 MMACHC MT-ATP6 SNAP25 ACADVL ATXN2 C9orf72 DYNC2LI1 LGI4 SCNN1G KLHL7 CHCHD10 MT-TN MYPN FIG4 BTNL2 SCO2 TRPM4 TGFBR1 PGM1 CCR6 NPM1 CCNF FAM20C SPP1 EPHB4 CDC45 UBA1 DCTN1 SMAD2 TNNI3 GNAI3 OTX2 MT-TL1 PRKG1 SERPINA1 SLC52A3 WIPF1 VPS33A ALAS2 SOD1 ADAMTS13 PNPLA2 SNRPN VAMP1 LDLR NDUFS2 MAT2A GLT8D1 MT-ND6 RNU4ATAC EPHA4 MOGS SURF1 TERC SMAD3 DAO TRAK1 CACNA1A MT-TS1 TWNK CRLF1 NEFH FAM13A PRPH MYL2 NDUFB8 SMPD1 MT-TV ALDH7A1 ABCG8 ASAH1 KRT16 DSC2 CSF2RA STAT3 IFT81 KRT6A HP_EMPHYSEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMPHYSEMA GLA ALDH18A1 FARSB TSC1 TSC2 NFKB2 GMNN SERPINA1 FBLN5 TNFSF12 EVC2 SON TNFRSF13B SPINK5 DYNC2LI1 EVC TAP1 TAPBP ICOS TAP2 CD81 NSD1 LTBP4 SCNN1G FLCN TNFRSF13C RHOH SCNN1B GLI1 NDUFAF6 MS4A1 HLA-DRB1 ABCA3 CR2 COL3A1 CDT1 BTNL2 FBN1 PRKCD DNASE1L3 SETD2 APC2 ELN MGP CFTR EFEMP2 TGFB2 NFKB1 SCNN1A LMNA CD19 HP_RESPIRATORY_DISTRESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_DISTRESS SLC25A3 B3GALT6 RPS28 SLC18A3 KRT6B TRIP11 NAGS BMPER MT-TE TRPV6 LAMB3 SBDS SLC2A10 FOXP3 STAT5B CSF2RB NUP214 PLCB4 ZIC3 MT-ND3 EDN1 AIMP2 MMUT NDUFB11 MT-ND1 MYO9A DNAAF3 MGAT2 MT-ND4 ETFA SDCCAG8 MEGF10 ATP6V1B2 RELN LIFR ERF NKX2-1 MT-ND2 RNF13 ATP1A2 ACADS CDC6 GALC TSC1 MMAB SUCLG1 SSR4 ERGIC1 TSC2 DMPK FOXF1 NDUFA8 FGFR1 MT-TW ALMS1 ADNP CDT1 COL13A1 SOX9 POMT1 PRRX1 LAMC2 DPM2 NDUFAF3 EDA ADCY6 DPM1 ORC1 GMNN STT3B ATP1A3 LAMA3 SLC35A1 GATA6 SYT2 SETBP1 ZFPM2 SLC25A1 DISC1 TK2 FGFR2 KRT17 SLC12A3 NEMF IFT52 LYRM4 ABCA3 PURA COLQ ENPP1 UBE3B PPP1R21 GBA SRP54 CLCNKB MMAA NGLY1 MT-ND5 USP9X HCCS ITGA3 SERPING1 AIFM1 EFTUD2 FBP1 IL1RN ORC4 MMACHC MT-ATP6 SNAP25 ACADVL CHAT DYNC2LI1 EOMES LGI4 KLHL7 MT-TN MPC1 AGRN CHRNE MT-TK SFTPB SCO2 HLCS RUNX2 KAT6A MAPT DHX16 FAM20C EPHB4 DNAJC21 RPS26 CDC45 COQ7 UBA1 ETFDH PMM2 TBC1D24 CNTNAP1 ABCC6 GNAI3 OTX2 MT-TL1 SLC52A3 BAP1 VPS33A CREBBP ADAMTS13 SNRPN VAMP1 NDUFS2 SIK1 ETFB PUF60 MT-ND6 MOGS SURF1 SLC1A3 SFTPC CPT2 TRAK1 CACNA1A MT-TS1 TRMU COL2A1 NDUFB8 MT-TV COX7B LAMB2 ALDH7A1 ASAH1 EP300 KRT16 ORC6 CSF2RA PSAP SLC5A7 GAA IFT81 KCNA1 TUBB4A BTD KRT6A HP_ASTHMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASTHMA SEC24C GP1BB COMT JMJD1C VPS51 MUC7 ARL6 SPINK5 CDSN ERCC2 SIX3 FGFR1 IL4R GP1BA WAC GLI2 IGF2 ARSL COX4I2 IL13 IDS LMX1B NEK9 PGM3 HMGA2 SCN4A TNF DDX41 CREBBP NSUN2 JAK1 DOCK8 AFF4 CDKN1C CCDC28B HNMT TGIF1 CARD11 SCGB3A2 HIRA EP300 FGF8 ALOX5 LIFR BCL11B TBX1 NKX2-1 MTOR ODC1 TRAIP MIA3 ZIC2 ALMS1 CDON USP7 PLAG1 PLCG2 ALG9 UFD1 LIG4 HLA-G ODAD3 TBCK BBS1 SIK3 CARMIL2 LRBA STXBP1 FLG FOXH1 ZNF699 PTGER2 PTCH1 FCGR2A GP9 CFTR PEPD SDHD SHH GRHL2 CCL11 ADRB2 PEX5 NOD2 ARVCF TGFB1 NODAL TDGF1 UNC45A NFKB2 MS4A2 SLC27A4 TBX21 ELOVL4 DLL1 RREB1 GTF2H5 PLA2G7 DISP1 CASP8 ADA GAS1 SUFU RIC1 TALDO1 HP_RECURRENT_ASPIRATION_PNEUMONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_ASPIRATION_PNEUMONIA NFIX KDM6A IGBP1 CRLF1 LONP1 NOS1 KIAA0586 ASAH1 PIGN NTRK1 GIPC1 GBA KNSTRN CSPP1 PIK3CD NHLRC1 KMT2D SP110 PDHA1 HLA-DQA1 HLA-DQB1 SLC25A24 EPM2A HP_ABNORMAL_LUNG_LOBATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LUNG_LOBATION TBX1 SEC24C LBR GLI3 AKT1 GRIP1 BUB3 NKX2-6 GDF1 BUB1B BUB1 ARVCF COMT PLXND1 NODAL DHCR7 JMJD1C TRIP13 ALG9 FREM2 UFD1 PTEN CEP57 EMG1 FANCB RREB1 WNT3 RSPO2 CHUK PIGT GPC3 WT1 PUF60 FOXF1 HIRA GPC4 GP1BB HYLS1 FRAS1 HP_PLEURITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PLEURITIS FCGR2B FAS PRTN3 HLA-DPB1 UBAC2 NOD2 IL10 HLA-DPA1 HLA-B IL23R IL12A DNASE1 CTLA4 TREX1 ERAP1 MEFV PTPN22 CCR1 KLRC4 TNFRSF1A STAT4 TLR4 IL12A-AS1 C4A FCGR2A HP_ABNORMAL_PLEURA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLEURA_MORPHOLOGY FCGR2B TGFBR2 DICER1 KEAP1 B3GALT6 PRTN3 MYD88 UBAC2 HLA-DPA1 IL23R KIF11 PRSS1 HLA-B PTPN22 BCL6 VPS51 FBN1 TREX1 SLC25A24 NAB2 FOXE3 FAT4 MYH11 EIF2AK4 HLA-DRB1 LAMB3 MEFV SPINK1 PKHD1 CCR1 SOX18 KLRC4 CTRC FOXF1 CLPB FLCN ALG14 C4A TGFB2 CCBE1 SERPINF2 HFE STAT4 HRAS TGFB3 COL3A1 ATP6V1E1 FAS BMP2 P4HA2 ABL1 DDR2 MAP2K1 SMAD3 BTNL2 HELLPAR CFTR PTPN11 DNASE1L3 GPR35 FBLN5 IRAK1 ACTA2 TGFBR1 PIEZO1 EFEMP2 TLR4 NR1H4 MIF SPP1 HEY2 LACC1 CHST14 MYLK TSC1 SMAD2 ENG TSC2 SFTPB TCF4 IL10 PRKG1 CYBC1 SLC34A2 LYST BAP1 ADAMTS2 IL12A DZIP1L STAT6 CCND1 LOX GPKOW EXT1 MST1 MAT2A IL6 RASA1 BCL2 TNFRSF1A TAPT1 CTLA4 ADAMTS3 ELN IL12A-AS1 LAMC2 DSE CFH FCGR2A LBR SFTPC CD28 HLA-DPB1 NOD2 CALCRL ELP1 PRSS2 BRAF TNFRSF1B SEMA4D MFAP5 GUSB DNASE1 IKZF1 LAMA3 CFI ITK ERAP1 CBL LZTR1 EPHB4 FSHR PLVAP RIT1 CD46 EXT2 SMAD4 HP_APNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APNEA MCCC1 SEPSECS NDUFS1 SURF1 BUB1B CCDC47 DCTN1 CEP290 FBN1 HERC2 SLC18A3 PTCH1 TECPR2 VPS51 SLC6A5 PEX13 GPR101 DDB1 TCTN3 DLL1 IDUA TDGF1 FGF8 ARSL MYO9A GLRA1 CEP41 NDUFA2 PLCB4 FXR1 RPGRIP1L SCN8A SIX3 MT-ND1 AIP GABRG2 ARL13B MECP2 SCN2A TMEM237 MT-ND4 LIAS FOXH1 INPP5E EP300 PHOX2B ZNF423 CBY1 ARL3 SYT1 TCTN1 PIBF1 MT-ND2 NGLY1 LARP7 ATP1A2 SATB2 USP7 GLI2 GBA CDKL5 ZIC2 FBP1 HSPG2 SUCLG1 NDN PEX5 NFIX ARCN1 GPHN SFTPB UNC80 COL13A1 FARS2 FGFR3 TACO1 LIPT1 SLC19A3 RAI1 KIAA0586 ASXL1 CEP120 PCCA TGIF1 COL3A1 PDHA1 RARS2 GSN TMEM67 TSEN2 DPH1 SYT2 PRRT2 KCNQ3 NDUFS8 SNRPN SLC25A1 DISP1 SLC2A1 PURA NEFH RERE COLQ SHH BUB1 AHI1 TMEM138 MT-ND5 DNA2 LRRC32 MYO1H PRPS1 TCTN2 DMPK SH3BP2 CHAT PET100 MAGEL2 NODAL RUNX2 NDUFA12 GLUL HRAS NDUFS2 PCK1 NDUFS3 SRPX2 CDON COX15 CTNNB1 AFF4 MT-TK FGFR1 NDUFA13 NEB CISD2 SNORD116-1 SLC39A8 ATN1 NDUFS7 CREBBP CC2D2A KIF7 TSPYL1 PSAP B9D1 MED27 MKS1 PLAA PRNP CPLANE1 TCF4 PWRN1 ASCL1 RBM10 SDHA MKRN3 D2HGDH PWAR1 ABCA3 SKI SLC1A3 SOD1 CPT2 SUFU FOXRED1 CSPP1 AHDC1 TBR1 BRAT1 TSEN15 TOE1 FGF13 OPA1 KIAA0753 LAMB2 ARMC9 SCN4A CEP57 RPS6KA3 NDUFAF5 NDUFV1 SLC5A7 TSEN34 ECHS1 LTBP3 CRYAB PRPH BTD NDUFS4 SIM1 BUB3 BMP2 TRPV4 STAT2 DKK1 GABBR2 STXBP1 C2CD3 HYLS1 MTHFR GNAI3 IDS MT-ND3 EDN1 TMEM216 NACC1 TNFSF11 GAS1 CEP104 KCNQ2 SNX10 SCO1 ACY1 COQ2 CLCN7 FGFR2 MTFMT BRAF SLC6A9 TSEN54 LIFR NDUFA11 STAG2 ZC4H2 NADK2 AMER1 P4HTM SCN5A NDUFAF2 NEK1 MT-TW PDE6D DPAGT1 SOX9 KAT6B NDUFAF3 SPOP NONO GNE OCA2 BCHE TERT FAM149B1 ATP1A3 PTF1A FLCN PRMT7 POGZ GNPTAB KIF5A SMC1A AP3D1 FUZ PCGF2 MT-ATP6 SNAP25 PIGT NTNG1 PLPBP ADGRG1 NDUFA9 NDUFAF6 RET DST AGRN HSPD1 NDUFA10 CHRNE SCO2 NDUFV2 ACADSB EXOC2 WFS1 KATNIP HTRA2 PLA2G6 TMEM107 HMGCL NDUFA4 MT-TL1 OFD1 NALCN LRPPRC ATP5F1A PI4KA VAMP1 PCCB MT-ND6 MOGS CACNA1A TCIRG1 RNF125 CTSD TMEM231 NPAP1 TRIP13 NDUFB8 MT-TV TWIST1 NPHP1 GRIN2A SLC25A20 DDC ALPL SNORD115-1 HP_HEMOPTYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMOPTYSIS MYLK TSC1 SMAD2 TGFBR2 HLA-B HLA-DRB1 ENG TSC2 PRTN3 UBAC2 IL10 PRKG1 HLA-DPA1 COL5A1 SLC34A2 IL23R F5 IL12A FBN1 FOXE3 MYH11 LOX EIF2AK4 COL5A2 MEFV MAT2A CCR1 KLRC4 FCGR2A TRAF3IP2 STAT4 SCNN1G ELN IL17RC IL12A-AS1 SCNN1B CFTR C4A SMAD4 TGFB2 PTPN22 SMAD3 TGFB3 COL3A1 FAS HLA-DPB1 IL17RA TGFB1 BTNL2 MFAP5 DNASE1L3 ACTA2 IL17F GDF2 IL12B ERAP1 TGFBR1 CTLA4 TLR4 MLX ACVRL1 TLL1 HEY2 SCNN1A CLEC7A HP_PNEUMOTHORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PNEUMOTHORAX MYLK TSC1 SMAD2 TGFBR2 TSC2 B3GALT6 SFTPB PRKG1 SLC34A2 ADAMTS2 FBN1 SLC25A24 DZIP1L FOXE3 MYH11 LOX EXT1 LAMB3 MAT2A PKHD1 CLPB FLCN ELN LAMC2 DSE HLA-DRB1 TGFB2 SFTPC HRAS SMAD3 TGFB3 COL3A1 ATP6V1E1 ABL1 DDR2 BTNL2 MFAP5 FBLN5 CHST14 ACTA2 LAMA3 TGFBR1 EFEMP2 HEY2 EXT2 SMAD4 HP_SPONTANEOUS_PNEUMOTHORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONTANEOUS_PNEUMOTHORAX SFTPC ADAMTS2 FLCN COL3A1 TGFBR2 SFTPB DZIP1L PKHD1 HP_BRONCHIECTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRONCHIECTASIS TNFRSF13B RSPH3 NFKB2 RTEL1 CFAP221 DNAH1 RASGRP1 ODAD2 STX3 ZNF341 RSPH4A DNAAF2 MAGT1 DNMT3B CTLA4 IGLL1 DSP DPP9 TAP1 DNAAF1 PIK3CD TAPBP RSPH1 MUC5B DNAH9 ICOS TAP2 CD81 CD79B MCIDAS SLC29A3 SCNN1G MPEG1 DNAI2 DNAAF4 TTC12 SPAG1 DNAL1 CR2 CXCR4 CCNO TPP2 PGM3 PIK3R1 DNAJB13 CD8A TET2 CFAP300 BTNL2 CFTR RSPH9 DRC1 CCDC65 DNAAF6 FOXJ1 ODAD1 LAT BACH2 CCDC40 DNAAF3 CD19 ZMYND10 ARHGEF1 DNAI1 TERT LRRC56 NEK10 SYK IL21R TNFRSF13C IL6ST STAT1 NCKAP1L DNAH11 BLM SCNN1A GAS2L2 SPEF2 IGHM RIPK1 SFTPA2 CCDC39 BLNK RIN2 SFTPA1 CCDC103 SLC34A2 TNFSF12 RAC2 NBN ODAD3 B2M CARMIL2 LRBA CFAP298 LRRC8A FCGR2A UNC119 WDR1 GAS8 SCNN1B ODAD4 MS4A1 ABCA3 HLA-DRB1 DNAAF11 SFTPC TERC TGFB1 TCF3 DNAAF5 FAM13A PRKCD STK36 OFD1 CD79A DNAH5 HYDIN NME8 ATP11A STN1 POLA1 RPGR IRF9 PARN NFKB1 ATM IRF8 HP_PULMONARY_INFILTRATES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_INFILTRATES TSC1 TSC2 MALT1 PRTN3 MYD88 SFTPB HLA-DRB1 UBAC2 IL10 GBA HLA-DPA1 SLC34A2 IFNGR1 IL23R IL12A RASGRP1 CCN2 BIRC3 MEFV CCR1 KLRC4 CASP10 STAT4 IL12A-AS1 FAS C4A IRF5 PTPN22 FOXP1 PRKCD HLA-DPB1 SMPD1 HLA-B FASLG BACH2 NKX2-1 ERAP1 BTNL2 CCR6 CAV1 APOE ASAH1 RAB27A UBA1 CTLA4 PDGFRA BCL10 TLR4 LPIN2 IL2RA HP_ABNORMAL_CEREBRAL_VENTRICLE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CEREBRAL_VENTRICLE_MORPHOLOGY LARGE1 KIAA0586 NF1 SATB1 CCDC88C BUB1B PDHB SUFU ADGRG1 HERC2 EIF2S3 TRPV4 NDE1 DPM1 VPS51 RNASEH2A FANCB ALG13 ATXN3 SLC9A6 KANSL1 TAF13 GNAS RERE DLL1 RTEL1 TDGF1 PPP2R5D STRADA RPS6KA3 TERT PHC1 CENPJ DHCR24 CEP41 RHOBTB2 METTL5 BRAF KDM5B PYCR2 ERCC2 DAG1 CENPF ANKRD11 SPEN QARS1 MAST1 PUS3 KRAS SIX3 ZEB2 SIN3A ASPM IFIH1 PIK3CA SAMHD1 MRPS16 COG8 ASXL2 FOXH1 INPP5E CSGALNACT1 JAM3 FGF8 KATNB1 MTHFS TUBB3 FIG4 TRPM3 DYNC2H1 ERCC4 MAP2K2 CHST14 ERCC3 TCTN1 RAC3 NGLY1 CCDC39 PIGN MKS1 USP7 GLI2 PRKCZ ACTB SLC13A5 CHEK2 OTUD6B NDN CCDC174 TRAPPC14 SHH EMG1 SIK3 FGFR2 PDHX KIAA0753 NDUFA8 NANS PAK3 VAC14 ZNF699 HNRNPU RFWD3 CTCF ZSWIM6 GPC3 POMGNT1 MED12 ARSB TRIM71 AHCY EHMT1 FKRP EXT1 AP1S2 GLB1 PTCH1 OSGEP GAS8 TMEM237 CUX1 B9D1 CLIC2 TGIF1 ZBTB11 GBA ZIC2 MYOD1 TSEN2 DPH1 CLP1 XPR1 UGDH SETBP1 PAX6 YWHAE ZIC1 SNRPN COG5 MTM1 MDM2 FLNA DNAH5 GCDH DISP1 B4GAT1 NAA10 TBL1XR1 SLC2A1 BICRA ARID2 PPP1R21 B3GAT3 TUBB2B BUB1 AHI1 MBD5 COMT PIGB RSPH4A ATP6AP2 ALG2 DCHS1 BRCA2 RAD51 POMT1 CDC40 PGAP1 MPLKIP PLG PTCH2 WDR35 DMPK PRNP DNAH9 FBP1 SIN3B EPB41L1 KIAA1109 NSD1 DEAF1 ANTXR1 SLC25A1 POMK ARID1B MAGEL2 TBCE COL4A2 NODAL COL4A1 B3GALNT2 TTC12 GALC WDR81 GLUL HRAS KIFBP KIDINS220 B9D2 CRPPA NEK1 VPS37A COPB2 PPP2R1A FGFR3 CCDC65 FGFR1 PARN TAOK1 GMPPB IDUA BRD4 TARS1 FOXJ1 SYNGAP1 COX8A RAI1 OSTM1 HIRA SNORD116-1 CDK5RAP2 STAG2 PPP1CB SLC39A8 CYFIP2 PMM2 TBX1 PTDSS1 CC2D2A SLC12A6 NPHP3 TMEM216 FAR1 ODC1 NRAS PSAP LMBR1 HSPG2 PHGDH TIMMDC1 DLL4 SMG9 KAT6B ODAD3 MAP2K1 SMC1A PWRN1 FKTN NUP133 TXN2 DPYSL5 PIGO DNAAF3 CASK ERMARD MAB21L1 MKRN3 D2HGDH PWAR1 EXTL3 GLI3 ATP6V1E1 CPT2 RAPSN NOTCH1 FBN1 CCND2 PEX10 ATP1A1 UNC45A SEC24D KLHL15 CCL2 POMT2 COX6B1 VPS11 DNAI1 LAMA1 BRCA1 RXYLT1 EXOC8 NFIA OGDH PDPN TBXT KMT2C CEP290 RAD51C SIM1 ZMIZ1 GPC4 BUB3 HIBCH ODAD2 POLR3A ARMC9 ACD PEX1 MT-ATP6 HYLS1 SLC25A24 ESCO2 HELLS TCTN3 PDGFRB OCLN CLTC KCNQ1OT1 RTTN IDS KDM1A PPP2CA APC2 AKT1 BAP1 SLX4 ATP6V0A2 CHST3 TBCK TPRKB IFT80 CCNO RAC1 TNFSF11 DRC1 BMP4 ACTA2 RRAS2 CEP104 NDUFA6 SMO ERCC8 FTO EZH2 RNF113A TMEM67 CEP120 NFIX MBTPS2 CLCN7 SLC6A9 KIF7 SPEF2 MUSK TSC1 HECW2 LMNB2 PPP1R12A CDCA7 ACP5 ROGDI PHACTR1 CEP152 UBE3B TRAPPC6B SON SASS6 NADK2 TUBA8 WDR45B NDUFB11 GPSM2 MAG IFNG CDC42 LUZP1 TGDS SETD1B TRAF7 KDM4B OCA2 TRPS1 PTEN TRIM37 RSPH1 ATXN2 LAGE3 IGF2 TUBB2A UBE2T TAF1 B3GLCT HS6ST2 EBP PIGQ HBA2 PNKP NME8 TET3 NOTCH2NLC ALG3 NOTCH2 NEU1 ALDH7A1 ODAD4 ARID1A PIK3R2 TMEM107 NDUFS2 ZPR1 DHX37 RNASEH2C DNAH1 SLC18A3 SHOC2 HCCS FANCE NID1 DKC1 NF2 ALG8 MMACHC OPHN1 DOK7 ZBTB24 LETM1 DCC MFSD2A SMARCE1 WAC COL3A1 FOXRED1 FANCI CEP135 DNAAF1 WDR26 CCDC22 CIC TP53 MOCS2 SAMD9 FANCD2 SLC35A2 CACNG2 SCO2 DNMT3A SPAG1 CPLANE1 SMARCA4 SUCLA2 FANCL EXOC2 AKT3 KATNIP ASXL1 WARS2 SETD2 B4GALT1 OFD1 IQSEC2 DNAL1 GAS2L2 YY1 MTOR WDR73 RPGRIP1L GNAO1 DNAAF6 KNL1 BMP2 VPS33A UFD1 MAF SMC3 KIF1A CCDC40 CSPP1 TAPT1 TGFBR2 GP1BB PEX19 DNMT1 TCF4 STAC3 SKI DYRK1A MED12L RNF125 GNAQ POR CIT TMEM231 CHD4 PIEZO2 DOCK8 HDAC6 DOCK6 BRF1 NDUFB8 TMEM138 SMARCB1 SURF1 CTDP1 PCNT TSEN54 NPHP1 FAM111A MC1R DYNC1H1 CCDC88A SF3B4 BGN STK36 CUL4B FAT4 SEPSECS MRE11 LMNB1 EML1 HDAC8 B3GALT6 CFAP221 ERF PTPN23 TBC1D2B TNNI3 PDHA1 AP4E1 YIPF5 MEF2C ANKLE2 TNFRSF11A MMP23B RSPO2 SPG11 C2CD3 CRB2 MED25 SH2B1 HIVEP2 SLC20A2 SOX9 SPTBN1 P4HB DHX30 FAM20C DNAJB13 CYP26C1 MAN2B1 RAB18 HBA1 PRKAR1A CDH15 TSC2 WASF1 OCRL SUMF1 COX7B ARL13B NUP188 DDX3X ODAD1 CSNK2B ZMYND11 MCPH1 TRAPPC12 RSPH3 EP300 PYCR1 ZNF423 CBY1 ARL3 PDGFB STXBP1 OTUD5 WDR4 TRAIP GUSB TBX15 GABBR2 TUBB KCNK4 COX16 CEP83 DNMT3B DNAH11 ADNP RNASET2 AP4M1 POMGNT2 FGFRL1 CPLX1 COL18A1 PLPBP VANGL2 HUWE1 SMARCC2 VANGL1 PUF60 UBTF FH CDKN2A ATP6V1A TP53RK MPDZ DISC1 CHD7 ADAR KIF14 RPGR GTF2H5 TXNDC15 CNNM2 WDR62 JAM2 EVC2 ISCA1 RAD21 ATXN1 SEC24C ERCC5 SPECC1L SOX2 L1CAM INTU PSAT1 JMJD1C LRRC32 DNAAF2 PDE2A ACTG1 COX20 TMTC3 TCTN2 EGF BRSK2 SLC29A3 EOMES TREX1 DENND5A CFAP43 ASNS CSF1R KMT2D CAMK2B DNAAF4 HEPACAM NUP107 FOXP3 CDON SEC31A CTNNB1 NSUN2 ZBTB20 CDKN1C FANCA SHPK HERC1 DHCR7 UBE4B TBCD PORCN KIRREL3 STIL FUZ TSFM ASH1L NEK10 RAB11A PIBF1 EVC CEP63 PIK3CD CREBBP DCX MTRR TBC1D24 TCIRG1 KRT14 EEF1A2 MYMK PIGU KCNQ1 GRIN2B PLAA GTF2E2 XRCC4 RASA1 GFM2 GRIN1 MYORG ZNF462 USP9X WNT3 ZC4H2 FANCF KDM6A ARX CTSK PMPCA ZNF292 TSEN15 USP18 ARVCF KNSTRN NCAPD3 TINF2 PRDX1 RREB1 ERCC6 WASHC5 VSX1 TMX2 TSEN34 LRRC56 SOX11 CILK1 CAMK2A TENT5A LONP1 HTT ARHGAP31 RBPJ FLVCR2 LAMB1 EOGT ZNHIT3 TYROBP MFN2 FLII FARS2 NUP88 FBXW11 FOXF1 PIGG MTHFR NSD2 KCNQ5 PIGV NBEA CTSC POLR2A RAB3GAP1 DYNC2I1 BCOR TRNT1 DYNC2I2 VPS13A KANK1 GAS1 DPF2 SNX10 SHMT2 TMCO1 NIPBL SEMA3E RECQL4 MYT1L ATP6V1B2 CDK6 ZNF148 XRCC2 GFAP TREM2 SHANK3 AMER1 RNASEH2B GRN HK1 NDUFAF3 DSE KAT8 AFF3 COG6 FANCC MSL3 MOCS1 SMARCD1 EPHB4 DNAAF11 CFAP298 IFT43 HYDIN MAD2L2 C12orf57 SOX4 KDELR2 TAF2 CTBP1 AMPD2 SMOC1 PAFAH1B1 ZIC3 ARSI SNIP1 SLC17A5 CHAMP1 MCIDAS RPGRIP1 KRT5 THOC2 NCAPG2 KCNAB2 IFT172 CFAP300 ASXL3 TUBGCP2 ZMYND10 NEXMIF TGFBR1 HTRA2 FRAS1 AP4B1 HSD17B4 ZNF335 DNAI2 CHD3 CLCN4 SLC25A19 LIG4 CEP57 CASZ1 RSPH9 PRDM16 TUBA1A VPS53 CCDC103 YARS1 SET FLI1 ALG12 BICD2 RNF213 THOC6 DNAAF5 GRM1 NPAP1 TRIP13 FANCG PPP3CA MT-CYB BRIP1 GABRD SNORD115-1 FANCM PALB2 HP_VENTRICULOMEGALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULOMEGALY LARGE1 SATB1 CCDC88C BUB1B PDHB ADGRG1 HERC2 EIF2S3 NDE1 DPM1 VPS51 RNASEH2A ATXN3 SLC9A6 KANSL1 TAF13 RERE RTEL1 PPP2R5D STRADA RPS6KA3 TERT PHC1 CENPJ DHCR24 RHOBTB2 METTL5 KDM5B PYCR2 DAG1 ANKRD11 SPEN QARS1 MAST1 PUS3 KRAS ZEB2 SIN3A ASPM IFIH1 SAMHD1 MRPS16 COG8 ASXL2 CSGALNACT1 JAM3 KATNB1 MTHFS TUBB3 FIG4 TRPM3 DYNC2H1 ERCC4 CHST14 RAC3 NGLY1 CCDC39 PIGN MKS1 USP7 PRKCZ ACTB OTUD6B NDN CCDC174 TRAPPC14 SHH EMG1 KIAA0753 NDUFA8 NANS ZNF699 HNRNPU RFWD3 CTCF ZSWIM6 POMGNT1 TRIM71 AHCY EHMT1 ERCC2 FKRP EXT1 GLB1 OSGEP GAS8 CUX1 B9D1 ZBTB11 MYOD1 TSEN2 DPH1 CLP1 XPR1 UGDH SETBP1 PAX6 YWHAE ZIC1 SNRPN COG5 DNAH5 GCDH B4GAT1 NAA10 TBL1XR1 ARID2 PPP1R21 TUBB2B BUB1 MBD5 PIGB RSPH4A ATP6AP2 ALG2 DCHS1 BRCA2 FGFR2 PGAP1 MPLKIP PLG PTCH1 WDR35 DMPK PRNP DNAH9 FBP1 SIN3B EPB41L1 KIAA1109 NSD1 DEAF1 ANTXR1 GBA SLC25A1 ARID1B MAGEL2 TBCE COL4A2 COL4A1 TTC12 WDR81 GLUL HRAS KIFBP KIDINS220 B9D2 CRPPA NEK1 AP1S2 VPS37A COPB2 PPP2R1A CCDC65 FGFR1 PARN TAOK1 GMPPB BRD4 TARS1 SYNGAP1 COX8A RAI1 SNORD116-1 CDK5RAP2 GLI2 SLC39A8 CYFIP2 PMM2 SLC12A6 NPHP3 TMEM216 FAR1 ODC1 NRAS FANCB PSAP HSPG2 PHGDH TIMMDC1 SMG9 ODAD3 CC2D2A SMC1A PWRN1 FKTN DPYSL5 PIGO DISP1 DNAAF3 CASK MAB21L1 MKRN3 D2HGDH PWAR1 EXTL3 GLI3 ATP6V1E1 CPT2 RAPSN ATP1A1 KLHL15 POMT2 COX6B1 VPS11 LAMA1 BRCA1 RXYLT1 NFIA PDPN KMT2C CEP290 RAD51C SIM1 ZMIZ1 GPC4 BUB3 HIBCH ODAD2 POLR3A ACD SLC13A5 MT-ATP6 PIK3CA TCTN3 PDGFRB OCLN CLTC KCNQ1OT1 RTTN PPP2CA APC2 ZIC2 SLX4 ATP6V0A2 TBCK TPRKB IFT80 CCNO RAC1 DRC1 BMP4 ACTA2 RRAS2 NDUFA6 FTO EZH2 RNF113A TMEM67 NFIX MBTPS2 SIX3 SLC6A9 SPEF2 HECW2 LMNB2 INPP5E ACP5 ROGDI PHACTR1 CEP152 ERCC3 UBE3B TRAPPC6B SON SASS6 AHI1 NADK2 WDR45B GPSM2 GPC3 MAG CDC42 LUZP1 TGDS SETD1B OCA2 TRPS1 PTEN TRIM37 RSPH1 ATXN2 IGF2 TUBB2A UBE2T TAF1 B3GLCT HS6ST2 EBP PIGQ RAD51 PNKP NME8 TET3 NOTCH2NLC ALG3 ALDH7A1 ODAD4 ARID1A TMEM237 TMEM107 NDUFS2 RNASEH2C DNAH1 SLC18A3 FANCE NID1 DKC1 DLL1 ALG8 OPHN1 DOK7 LETM1 MFSD2A SMARCE1 WAC COL3A1 FOXRED1 FANCI CEP135 DNAAF1 WDR26 CCDC22 CIC MOCS2 SLC35A2 CACNG2 SCO2 DNMT3A SPAG1 SMARCA4 SUCLA2 FANCL EXOC2 AKT3 ASXL1 WARS2 SETD2 B4GALT1 IQSEC2 DNAL1 HYLS1 GAS2L2 YY1 MTOR MUSK GNAO1 DNAAF6 KNL1 BMP2 MAF POMK SMC3 KIF1A POMT1 CCDC40 FGF8 CSPP1 TAPT1 MED12 DNMT1 TCF4 STAC3 DYRK1A MED12L RNF125 CIT CHD4 DOCK8 BRF1 NDUFB8 TMEM138 SURF1 OFD1 CTDP1 PCNT FGFR3 TSEN54 FANCD2 DYNC1H1 CCDC88A BGN STK36 CUL4B FAT4 SEPSECS MRE11 LMNB1 EML1 HDAC8 CFAP221 PTPN23 FBN1 TBC1D2B TNNI3 PDHA1 KIF7 NDUFB11 AP4E1 YIPF5 MEF2C ANKLE2 TNFRSF11A MMP23B SPG11 C2CD3 CRB2 MED25 SH2B1 HIVEP2 SLC20A2 SOX9 SPTBN1 DHX30 DNAJB13 TCTN1 RAB18 CDH15 WASF1 OCRL SUMF1 NUP188 DDX3X ODAD1 CSNK2B ZMYND11 MCPH1 TRAPPC12 RSPH3 STXBP1 OTUD5 PDHX TRAIP GABBR2 TUBB KCNK4 SMO COX16 PPP1CB DNAH11 ADNP RNASET2 AP4M1 RPGRIP1L POMGNT2 FGFRL1 CPLX1 PLPBP HUWE1 KIAA0586 SMARCC2 PUF60 UBTF ATP6V1A MPDZ DISC1 CHD7 ADAR KIF14 RPGR GTF2H5 TXNDC15 CNNM2 WDR62 JAM2 EVC2 ISCA1 RAD21 ATXN1 SPECC1L L1CAM INTU PSAT1 LRRC32 DNAAF2 PDE2A ACTG1 COX20 CEP120 TMTC3 EGF PDGFB TRAF7 BRSK2 EOMES TREX1 DENND5A ASNS CSF1R KMT2D CAMK2B DNAAF4 HEPACAM FOXP3 SEC31A CDKN1C FANCA SHPK HERC1 CCND2 DHCR7 UBE4B TBCD KIRREL3 STIL TSFM DNAI1 ASH1L NEK10 RAB11A CTNNB1 EVC CEP63 PIK3CD PIEZO2 DCX MTRR TBC1D24 B3GALNT2 KRT14 EEF1A2 MYMK KCNQ1 GRIN2B PLAA GTF2E2 XRCC4 GFM2 GRIN1 MYORG ZNF462 USP9X ZC4H2 SKI FANCF KDM6A ARX PMPCA ZNF292 TSEN15 USP18 KNSTRN NCAPD3 TINF2 ARMC9 WASHC5 TMX2 TSEN34 LRRC56 SOX11 CILK1 CAMK2A TENT5A LONP1 WDR73 HTT ARHGAP31 FLVCR2 TMEM231 ZNHIT3 TYROBP FLII FARS2 NUP88 FBXW11 FOXF1 MTHFR NSD2 KCNQ5 NBEA POLR2A RAB3GAP1 DYNC2I1 BCOR DYNC2I2 VPS13A KANK1 DPF2 SHMT2 TMCO1 NIPBL SEMA3E MYT1L ATP6V1B2 CDK6 SMARCB1 ZNF148 XRCC2 TREM2 SHANK3 RNASEH2B COL18A1 GRN HK1 NDUFAF3 DSE KAT8 AFF3 COG6 FANCC MSL3 MOCS1 SMARCD1 DNAAF11 CFAP298 IFT43 HYDIN MAD2L2 C12orf57 SOX4 KDELR2 CTBP1 AMPD2 PAFAH1B1 SNIP1 FUZ CHAMP1 MCIDAS RPGRIP1 KRT5 THOC2 KCNAB2 IFT172 CFAP300 ASXL3 FOXJ1 ZMYND10 NEXMIF HTRA2 AP4B1 HSD17B4 ZNF335 DNAI2 CHD3 CLCN4 SLC25A19 CEP57 CASZ1 RSPH9 PRDM16 TUBA1A VPS53 CCDC103 YARS1 SET FLI1 ALG12 BICD2 RNF213 THOC6 DNAAF5 GRM1 OSTM1 NPAP1 TRIP13 FANCG PPP3CA TCTN2 BRIP1 GABRD SNORD115-1 FANCM PALB2 HP_CEREBRAL_CORTICAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_CORTICAL_ATROPHY ERCC2 RNU4ATAC KMT2E SLC25A15 CCDC32 GTF2I TOMM40 HDAC8 PIGA IARS2 CIZ1 KRAS MT-ND6 RAB3GAP1 AP4E1 TUBGCP6 MUC1 ADGRV1 MMADHC PGAP1 MAPT SLC9A6 NDP MMP23B SQSTM1 SPG11 RTEL1 WDFY3 MBTPS2 AP4S1 TERT RHOBTB2 USH2A BRAF SPEN MT-TS2 MAN2B1 RAB18 PUS3 GRIA4 EMX2 GBA ERCC1 ACTL6B KCNMA1 KATNB1 TBL2 TRAPPC12 GIGYF2 MAP2K2 LIPT2 CWC27 SNRPN HUWE1 ABCA7 CACNA1E PIGN COG1 BPTF RERE PRKCZ DOLK PTPN23 TREM2 OTUD6B UBR7 PDZD7 NDUFA8 DOCK7 CPA6 PEX7 CHMP2B NCF1 ATXN2 ERCC4 TMEM106B HPDL DNAJC30 DYRK1A BCORL1 KDM4B MT-TW CLP1 SETBP1 PSMD12 MECP2 TBK1 VCP BCL7B GTF2H5 AGO2 HIC1 PSEN1 FGFR1 RAD21 JARID2 BICRA SPECC1L TMEM70 SCYL2 SLC35C1 PPP2R2B ZMIZ1 POLG2 MEF2C UBTF ERCC5 MPLKIP WASF1 DMPK PRNP POMT2 NOVA2 ELN MAGEL2 KMT2D EIF4H SACS FMR1 APP SVBP AP1S2 DPAGT1 HERC1 TANC2 PARN MED27 UBE4B GMPPB CASK BRD4 TARS1 BUD23 TWNK HRAS CNOT3 FRMPD4 CISD2 B4GALNT1 SPG7 TCF20 CLDN3 SLC39A8 KAT8 AP4B1 CLN5 HSPG2 TBCD LARGE1 UBE3A PLAA EHMT1 GTF2E2 ALS2 GPKOW MAP2K1 CAMTA1 PSEN2 DOCK3 MT-TF VPS35 NDN KDM6A TBC1D20 BCAP31 ATP13A2 MT-TQ AP4M1 LRRK2 GBA2 TINF2 PRDX1 PDE6D TRMT1 RPS6KA3 TMEM270 TRAPPC4 SATB1 FBXW11 PDPN CNKSR2 MADD APOE NEK1 MYT1L MT-TS1 SIX3 GRIN1 GTF2IRD1 ACD MT-ATP6 ZNHIT3 TYROBP NTNG1 SHH RAB3GAP2 HNF1B GRM7 PIGV CLCN4 GLYCTK ACTB EIF4G1 CPLX1 SLC12A2 ADARB1 BMP4 MYO7A ACTG1 MARS2 VPS13A GRN ARX C9orf72 RNF113A TMCO1 PARS2 METTL27 NIPBL PIGL MT-TH CYB5R3 TRAPPC9 GUF1 CDC42 HS2ST1 PHACTR1 PUS7 TRAPPC6B USH1C MT-CO1 TUBGCP4 MVK ERCC6 YWHAE PIGS ERCC3 SLC39A4 POLR3A XPA NUS1 LUZP1 RLIM IKBKG FKRP OCA2 ACTL6A DNAJC13 RFC2 MAPK8IP3 XPC B3GLCT CYB5A DDB2 CHCHD10 MT-ND4 POGZ WHRN OPHN1 SNCA PALS1 AMPD2 MT-TL1 PRUNE1 GNAQ MYO5A CLIP2 MMACHC ALDH18A1 EXOSC8 ABHD11 DKC1 ESPN ALG8 CDH23 PCDH15 TSEN54 GABRA5 MT-CO2 VARS1 LAT2 SORL1 STX1A KCNAB2 TRIP12 PAFAH1B1 MT-ND1 WFS1 NEXMIF ACO2 MT-ND5 LIMK1 SKI TRRAP BAZ1B DPYSL5 MT-CO3 POLR3B UGP2 DDX6 MED13 HSD17B10 KCNT1 VPS13C MAF FA2H CASZ1 PRDM16 SMC3 KIF1A NTNG2 EXOC7 SMC1A GTF2IRD2 STUB1 BICD2 POMT1 NDE1 TRAK1 ATRX CIB2 RNF125 PYCR2 FKBP6 CLDN4 OCLN HTT VPS37D MLXIPL PLK4 FBLN1 JPH3 SPATA5 CTDP1 DGUOK TNRC6B TCTN3 USH1G RMND1 SNX14 GABRD RFT1 EPG5 TSEN15 HP_GENERALIZED_MYOCLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_MYOCLONIC_SEIZURE SEPSECS CUX2 SLC25A15 PCDH19 PIGA BUB1B NHLRC1 SCN9A DNM1L GRN KNSTRN MT-TP NDE1 SLC25A22 DPM1 ASAH1 MT-TK SCN1A PCDH12 GABBR2 STXBP1 ADGRG1 MTHFR CLTC KCNQ5 NBEA HIVEP2 IER3IP1 STX1B MT-ND3 KDM5B ADGRV1 CPLX1 CHD2 GABRG2 CILK1 NEXMIF MT-ND1 CDH15 CAMK2A DHDDS CACNA1A GBA APC2 GABRD CDKL5 MT-ND4 PLAGL1 CARS2 AFG3L2 SIK1 CSNK2B MT-TF SLC6A1 ZMYND11 TRPM3 MAPK10 MT-TH TRAPPC9 MYT1L MT-ND2 NGLY1 KCTD7 GALC SMS NDUFA1 MT-TW ALDH5A1 GAMT DPM2 SETD1B GLB1 CUX1 PTEN HYMAI SYNGAP1 GABRA1 DNM1 AP2M1 LNPK TSEN2 KCNT2 MT-ND5 ELOVL4 MFSD8 DLL1 SLC12A5 OPHN1 TBC1D24 MT-RNR1 SCN2A MBD5 PRICKLE1 SCN1B EPM2A PIK3CD SDHAF1 CHAMP1 EPB41L1 MT-ATP6 DEAF1 PIGT NSD1 BRSK2 GCK NTNG1 MT-TQ CLCN2 TANGO2 CAMK2B CIC NEU1 DPAGT1 CACNG2 SETD2 TAOK1 PAFAH1B1 KCNJ11 PDX1 KIRREL3 SLC2A1 STAT3 ASH1L RAB11A MT-TL1 MT-TS1 NUS1 SMC1A GABRB3 EEF1A2 EFHC1 KIF1A HACE1 PRDM8 GRIN2B INS PTRH2 HCN1 SDHB GRIN1 SET MT-ND6 MECP2 TCF4 DYRK1A ARX MED12L CLN8 BRAT1 TSEN15 TRIT1 SDHA DOCK8 MT-TS2 ABCC8 SPATA5 MT-TV SAMD12 PPP3CA MT-TI PHGDH ALDH7A1 TSEN54 MBOAT7 PSAP DYNC1H1 TSEN34 BTD SDHD HP_POLYMICROGYRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYMICROGYRIA PEX6 KIAA0586 EML1 GAS1 ARHGAP31 ZNHIT3 PIK3CA POMT2 SRPX2 ADGRG1 ARMC9 FKRP AHI1 PDHA1 TGIF1 NSUN2 BMPER PEX1 C12orf4 PEX13 GRIK2 AIMP1 PEX26 OCLN HYLS1 CLTC C2CD3 WASHC4 KCNQ5 RTTN NBEA SARS1 HIVEP2 CEP41 RAB3GAP1 POMK KAT5 IBA57 GRM7 KDM5B DAG1 NPRL3 NSDHL UBE4A ACTB SHH RAB18 LARGE1 PEX3 SIX3 MED25 MAP1B SNRPN ZEB2 UFSP2 NDST1 PEX10 RAC1 CDH15 PEX12 ACTG1 ARL13B ZC3H14 PSAT1 TMEM237 CEP104 TECR INPP5E MED23 SHMT2 DLL1 CEP120 CSNK2B KATNB1 ZMYND11 TRAPPC9 TUBB3 FIG4 PTEN TRPM3 RECQL4 MYT1L WDR62 CBY1 ARL3 ATP6V1B2 IQSEC1 LMAN2L PAX6 TCTN1 STXBP1 CLIP1 PPP1R12A MAGEL2 CRBN METTL23 PEX16 VPS4A PEX5 PRSS12 SON TDGF1 NODAL SMO TUBA8 ST3GAL3 DOCK6 NDN TUBB WT1 GPSM2 COL18A1 SUZ12 MAPK8IP3 MTOR POMGNT2 DCPS SRD5A3 SETD1B ATP6V0A2 OCA2 CUX1 LONP1 SUFU FDFT1 CDON POMT1 POMGNT1 TP53RK B3GALNT2 MKS1 FH PEX19 TTC5 FBXO31 ATP6V1A RSRC1 EIF2AK2 NPRL2 DISC1 SCN3A FGF8 FRRS1L B4GAT1 EZR SLC5A6 PIK3R2 MAN1B1 SNAP29 DHX37 TUBB2B MBD5 PIGB PEX11B GPHN FUZ EDC3 PGAP1 TMTC3 TCTN2 CHAMP1 EPB41L1 CPT2 DEAF1 GNB1 BRSK2 EOMES COL4A2 LINS1 AKT3 COL3A1 FMN2 ZIC2 GLI2 CAMK2B COL4A1 PTCH1 CIC FKTN CRPPA ALKBH8 CCND2 CACNG2 TAOK1 CPLANE1 KIRREL3 HNMT TNIK KIF5C KATNIP ASH1L SYNGAP1 PI4KA RAB11A DEPDC5 PIBF1 ATN1 PEX2 TRRAP SF3B4 TBC1D24 ODC1 HSD17B4 TMEM67 RPGRIP1L EEF1A2 SLC12A2 B9D1 FOXH1 PIGC POLR3A KIF1A PHGDH DHCR24 GRIN2B MBOAT7 SLC45A1 TUBA1A LAMC3 ERMARD GRIN1 RAB3GAP2 SET TCF4 BICD2 ATP6V1E1 ERCC1 NDE1 CSPP1 TBC1D20 MED12L PEX14 KIFBP USP18 GMPPB DOCK8 NCDN KLHL15 TUFM PPP3CA MECP2 NPHP1 RXYLT1 TUSC3 TMX2 CC2D1A MN1 DYNC1H1 CRADD CCDC88A DISP1 LAGE3 NEMF CAMK2A CUL4B HP_ABNORMAL_UPPER_MOTOR_NEURON_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_UPPER_MOTOR_NEURON_MORPHOLOGY SQSTM1 FUS MATR3 ALS2 C9orf72 VCP TYROBP POLR3A POLR3B TBK1 GBE1 SIGMAR1 SPG7 ALDH18A1 PNPLA6 TARDBP ERLIN2 SETX CHCHD10 HP_EPISODIC_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISODIC_ATAXIA PNKP DMXL2 GNAO1 SLC1A3 SCN1B TRIM8 KCNA1 CDKL5 OTC PDHA1 ATP1A3 CASK SLC2A1 ARX SCN2A CACNA1A CACNB4 NFIX ATP1A2 PIGQ PIGP NEUROD2 SLC6A19 STXBP1 SLC25A22 SIK1 HP_PORENCEPHALIC_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PORENCEPHALIC_CYST ARHGAP31 NOTCH1 GPX4 RNASEH2C RBPJ EOGT TCTN3 DOCK6 DLL4 NRAS SNRPB IFIH1 KRAS SAMHD1 ZNHIT3 KIF1A RNASEH2B RNASEH2A FGFR1 ADAR TREX1 LAMB1 COL4A2 COL4A1 HRAS OFD1 HP_STATUS_EPILEPTICUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STATUS_EPILEPTICUS ABCC8 PCDH19 SATB1 DIS3L2 SLC12A5 CACNA1A SCN9A DNM1L GABRA1 KIF11 GRIN2A VPS51 SLC13A5 SYNJ1 CDKN2B SCN1A LMNB2 GRM7 CLTC UCP2 KCNQ5 NBEA HIVEP2 CDK19 RHOBTB2 STX1B KDM5B ADGRV1 QARS1 ATXN10 STXBP1 ATP6V0A2 SCN8A MRM2 GABRG2 ADORA2A NDUFB11 NEXMIF KCNA2 CDH15 FGF12 GABRD COG8 SCN2A KCNQ2 CNKSR2 PRODH NECAP1 CARS2 CSNK2B ZMYND11 GABRB2 FIG4 TRPM3 MYT1L CELF2 DEAF1 NTRK2 GABRA2 TRAK1 CACNA1E HCN1 ATP1A2 TBK1 GRIA3 CARS1 KCNMA1 SLC19A3 ITPA SLC1A2 TSC1 POLG CACNB4 VAMP2 TSC2 NDUFA8 PIGS ALDH5A1 GPAA1 ECE1 IQSEC1 ALDH4A1 NUS1 EFHC1 SETD1B PLPBP CUX1 TRAF3 ARV1 UPB1 KCNT1 SVBP ATP1A3 FGF13 PRRT2 FH KCNQ3 FOXG1 ATP6V1A NARS2 ACTL6B ALDH7A1 JRK DLL1 UBA5 SLC2A1 YWHAG AP3B2 DNM1 MBD5 KCNB1 HCCS SCN1B PDE2A EPM2A BSCL2 CDKN1B TLR3 CHAMP1 EPB41L1 ASAH1 COX10 TICAM1 BRSK2 CAD GABRA5 CAMK2B CIC SON KCTD7 SMARCA2 CYFIP2 GRIA4 AMACR BCL10 TBC1D24 CACNG2 SMARCAL1 CACNA1B TAOK1 CILK1 PARS2 UNC93B1 ARX KIRREL3 AARS1 TWNK AKT3 SCN3A ASH1L SYNGAP1 RAB11A PNPO CHD2 KCNJ11 NHLRC1 EEF1A2 ODC1 DHDDS TIMM50 ST3GAL5 KIF1A DHCR24 GRIN2B EHMT1 WWOX MECP2 CLCN2 PIK3CA GRIN1 SET RNU4ATAC PDSS2 TCF4 SLC1A3 TBC1D20 MED12L GRIN2D CDKN2C PPP3CA PEX5 CTSD ATP1A1 MEN1 DOCK8 CDKN1A TRAPPC2L PSAP PET100 COX7B DALRD3 SZT2 STRADA DYNC1H1 CCDC88A CAMK2A HP_ABNORMALITY_OF_THE_BASAL_GANGLIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_BASAL_GANGLIA NDUFS4 ATR MAPT SURF1 HTT MT-TS1 PANK2 HIBCH PDE10A VPS16 MT-ND6 PDHA1 FOXP2 NSUN2 ADAR MT-ATP6 C12orf4 ATXN3 GRIK2 AIMP1 GNAS ASPA SPG11 GCH1 TK2 ADH1C CLPB LRRK2 WASHC4 ISG15 ERCC8 SARS1 GLB1 POLR2A MT-ND3 GRM7 UBE4A MFF MT-TS2 MED25 TBCK MRM2 ZEB2 UFSP2 NDST1 MT-ND1 DNAJC19 IFIH1 FAM111A SAMHD1 ZC3H14 VPS13A MT-ND4 NDUFA2 TECR MED23 HTRA1 FASTKD2 TRAPPC9 TUBB3 CYP2U1 MT-TH CYB5R3 MTFMT PDGFRB GBA SYT1 PDSS2 SLC46A1 IQSEC1 LMAN2L SLC25A46 MT-ND2 CLIP1 PDHX CRBN METTL23 ERCC3 SLC19A3 TREM2 PRSS12 SNCA SUCLG1 MT-CO1 NADK2 ST3GAL3 VPS41 MT-TW NANS RNASEH2B RANBP2 TACO1 DCPS POLR3A NDUFAF3 LIPT1 GATA3 GLUD2 TBP LONP1 KIAA0586 ATXN2 CASR ATP13A2 CYB5A B3GALNT2 TTC5 FBXO31 NDUFS8 RSRC1 EIF2AK2 PDE8B CYP27A1 FRRS1L EZR OPHN1 PDGFB SLC44A1 HSD17B10 PRNP MAN1B1 RNASEH2C TUBB2B TYROBP MT-TL1 XPR1 MT-ND5 ALG2 COASY SNCAIP TIMM8A COQ2 EDC3 AIFM1 BSCL2 PGAP1 FBXO7 AP1S2 ATXN8OS CPT2 RNASEH2A PET100 FTL TREX1 LINS1 FMN2 MT-CO2 NDUFA9 NDUFA12 NDUFAF6 ETHE1 NDUFS2 MICU1 COQ8A GLI3 NDUFS3 GJA1 ACVR1 COX15 SLC30A10 PRKN NUP62 ALKBH8 NDUFA10 CNTNAP1 JAM2 MT-TK DNM1L SCO2 CA2 NDUFV2 WDR45 GTPBP3 HNMT TNIK NDUFA13 OPA1 VRK1 ERCC6 PSMB8 NDUFV1 PLA2G6 NDUFS7 DCX C19orf12 FDXR NDUFAF5 AUH NDUFA4 GCDH MT-CO3 SLC12A2 KDM5B PIGC NR4A2 NDUFS1 LRPPRC FA2H MBOAT7 SLC45A1 KCNQ2 PNPT1 SLC2A3 CSPP1 SDHA MT-TF GSX2 GNA11 FOXRED1 MT-TQ DLAT NCDN NDUFB8 JPH3 MT-TV NDE1 GFM1 MMUT PSMG2 SLC20A2 ERCC4 TUSC3 NDUFAF2 CC2D1A CRADD TBCE ECHS1 RFT1 SUCLA2 CP NEMF HP_BASAL_GANGLIA_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BASAL_GANGLIA_CALCIFICATION SLC46A1 SAMHD1 GNAS SLC25A46 FAM111A MT-TS1 TYROBP MT-CO3 MT-TL1 PDGFRB XPR1 ERCC6 ERCC3 MT-ND6 TREM2 CYP2U1 MT-CO1 ISG15 ERCC8 MT-TF MT-CO2 PDGFB GATA3 GNA11 IFIH1 GJA1 ACVR1 MT-TS2 MT-TQ CASR JAM2 DNM1L CA2 MT-ND1 RNASEH2B MT-TW PSMG2 MT-ND5 SLC20A2 ERCC4 OPA1 PSMB8 MT-TH MT-ND4 TREX1 HP_BROAD_BASED_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_BASED_GAIT YWHAG CCDC88C RAI1 HTT SATB2 UBE3A ADGRG1 PURA ACTL6B UROC1 CDK10 GBA CAD TRMT10A AP5Z1 NBEA THRA OCA2 SNRPN SPTBN1 VCP WDR26 ITPR1 MECP2 PACS2 TMEM106B MAP1B RLIM ZEB2 FLVCR1 EXT2 SNX14 WASF1 ZSWIM6 VLDLR DEAF1 PPM1D DDX3X SGCG TPP1 PIEZO2 SH3TC2 CUL4B TBP CHD3 GALC GPT2 CARS1 SIM1 HACE1 TBC1D23 SHANK3 MAN1B1 EBF3 SGCB KMT2A TOP3A XRCC4 PPP1R15B RNU12 RBM10 DNAJC12 MED12 MYOT ATCAY KCND3 DYRK1A COQ2 CERT1 PEX5 MTTP DLAT ATP10A PIGL GBA2 TRIM2 NRXN1 NKX2-1 SRCAP BCORL1 TKFC RNF113A TRPV4 SMS GTF2E2 HP_SUBARACHNOID_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBARACHNOID_HEMORRHAGE MYLK ITGA2B ACVRL1 SMAD3 TGFB3 SMAD2 TGFBR2 ENG GP1BA COL3A1 PRKG1 TGFBR3 MFAP5 FBN1 ACTA2 GDF2 FOXE3 MYH11 CD109 LOX TGFBR1 ITGB3 RASA1 DOCK8 THSD1 MAT2A GP1BB ANGPTL6 ITGA2 ELN HEY2 F10 SMAD4 TGFB2 HP_ARRHINENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARRHINENCEPHALY TBX1 SEC24C TBC1D24 GLI3 FIG4 RNASEH2C ARVCF COMT SMOC1 SEMA3E FUZ JMJD1C IFIH1 HYLS1 UFD1 SAMHD1 RREB1 RNASEH2B VAC14 RNASEH2A VANGL1 ADAR TREX1 HIRA FANCB GP1BB SF3B4 ATP6V1B2 KIF7 CHD7 HP_ISCHEMIC_STROKE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ISCHEMIC_STROKE BRCC3 MYLK ACVRL1 GUCY1A1 SMAD3 TGFB3 SMAD2 TGFBR2 ENG PRKG1 MFAP5 SLC2A10 SMARCAL1 FBN1 ACTA2 SON PIK3C2A FOXE3 MYH11 LOX TGFBR1 ADA2 SCN5A NPPA MAT2A COL4A1 ELN HEY2 NOTCH3 TGFB2 SMAD4 HP_GAIT_IMBALANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GAIT_IMBALANCE FLNC BAZ1B GTF2I MAPT UBE3A GTF2IRD1 ATL1 CLIP2 ARL6 ELN ATP5F1D SPEN ATXN1 DNAJC6 ABHD11 BBS1 TTBK2 VPS13C ADGRG1 SLC2A3 PIGG ATL3 HTRA2 GTF2IRD2 RNASEH1 EIF4H OCA2 HK1 VCP PIK3R5 LAT2 RRM2B STX1A NCF1 FXN SETX RFC2 TELO2 PTEN ATXN10 PUS3 FKBP6 PINK1 CHD4 CLDN4 PRKN DNAJC30 HTT CCDC28B TAF1 VPS37D SPTLC2 MLXIPL PMP22 ERLIN2 GALT DEAF1 PODXL PARK7 BUD23 ALS2 KAT6A TMEM270 SNCA SPTLC1 METTL27 BCL7B TBL2 LIMK1 CLDN3 LRRK2 UCHL1 SYNJ1 HP_ABNORMALITY_OF_THE_SPINAL_CORD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SPINAL_CORD HMGA2 GTF2I NF1 SIX3 LFNG SUFU VHL FLI1 PLP1 FGFR1 RTL1 ATXN3 PNPLA6 RAB23 GNAS CCT5 H19 RAF1 SPG11 FAR1 IDUA ARSL SH2B1 ZIC2 TGFB2 GALNS DACT1 SMAD3 ITGB4 DARS1 NAXE GDF6 ALDH18A1 APOE FLNB FREM2 AKT1 HES7 SC5D POLG TBL2 RFWD3 HEY2 EP300 TDP1 ERCC4 TWNK MYLK MTR GRIP1 ENG CTBP1 NOTCH3 GLI3 BRAF PORCN SHH CYP7B1 COLEC10 RELA ZSWIM6 MEG3 CCM2 ARSB EXT2 FGFRL1 PHEX PIK3CA CPLX1 MPO IRF6 VANGL2 LOX NCF1 TBX6 FA2H CREBBP KIAA0586 ATXN2 VANGL1 PUF60 WASHC5 DNAJC30 ABCA1 DISP1 ZIC1 TNXB FGF8 BCL7B PTPN11 PTCH1 CHN1 NOTCH2NLC SMAD4 ATXN1 CCNQ SEC24C LMX1B COMT JMJD1C BRCA2 POMT1 MYH11 TRAF7 ELN WBP11 DNA2 RUNX2 NOTCH2 CUL7 EIF4H COL2A1 RRM2B NEFL NSUN2 FANCA FOXE1 ACTA2 MYH3 LZTR1 STIL FUZ BUD23 ALX4 MINPP1 CTNNB1 KANSL1 HIRA FKRP GLI2 CLDN3 PTCH2 TBX1 GJB1 TBC1D24 MTHFR APC NRAS FANCB LYST PHGDH PRPS1 CCND1 HBB NF2 AMER1 DDR2 FKTN MSX2 KDM1A LEMD3 ZFTA EXTL3 SETX FANCF BMPER FBN1 ARVCF LETM1 CCL2 TRPV4 PAX3 RREB1 BRCA1 TMEM270 NFIA HAAO TBXT BTD NMNAT1 RAD51C NSD2 TENT5A RORA MAFB BMP2 MEOX1 FLVCR1 GTF2IRD1 RIPPLY2 NOS3 DKK1 RTN2 FOXE3 MFN2 CHRNG FOXF1 TMEM216 ACTB IDS ACVRL1 MESP2 TGFB3 APP POMGNT1 SLX4 NELFA GCLC B3GALNT2 UBAP1 SMARCB1 FOXC2 TNFRSF11A LMNB1 PSAT1 MASP1 RASA1 METTL27 ACY1 RECQL4 ARID1B COMP ATP6V1B2 MFAP5 TRIM36 FLNA GLB1 XRCC2 INPP5E DLL3 MORC2 MAP3K7 SPG7 COLEC11 BMS1 B2M IKBKG FXN FANCC RFC2 GMPPB UBE2T B3GLCT POLA1 RAD51 SALL4 PRMT7 SNRPB RBM8A PLEC CYP27A1 PIGG GTF2E2 MAD2L2 LARGE1 IGF2 KDELR2 TGFBR2 RAI1 CLIP2 FANCE RMRP ABHD11 ABCD1 MMACHC CEP290 DARS2 KCNH1 HFE FANCI CCBE1 MAN2B1 LAT2 MBTPS2 STX1A GJB2 NEPRO MTHFD1 DLL4 GLRX5 B3GALT6 SIN3A FANCL TGFBR1 PDCD10 SETD2 POMT2 NEK9 OFD1 LIMK1 MTRR FRAS1 KIF1B BAZ1B SMAD2 PRKG1 GNPTAB SLC25A19 UFD1 LIG4 EXT1 FIBP GDF3 MAT2A MNX1 SLC33A1 WNT7A CSPP1 GTF2IRD2 RNASEH1 GP1BB FKBP6 CLDN4 DNAJC3 VPS37D KRIT1 FANCG MLXIPL FBLN1 SLC26A2 HABP2 KIF22 BRIP1 FANCD2 KCNQ1OT1 DLK1 PLAU FANCM PALB2 HP_FRONTOTEMPORAL_DEMENTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRONTOTEMPORAL_DEMENTIA PSEN1 HNRNPA1 FUS ABCA7 TOMM40 CCNF DCTN1 VCP CHCHD10 SQSTM1 MAPT C9orf72 ZFYVE26 TBK1 PSEN2 PLA2G6 GRN CYLD TARDBP CHMP2B TMEM106B SORL1 PRKAR1B APP TREM2 TIA1 TUBA4A UBQLN2 HNRNPA2B1 HP_HYPOPHOSPHATEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPHOSPHATEMIA CDC73 GABRA3 CYP2R1 MEN1 HNF4A ABCC6 FAM111A SLC34A1 ENPP1 NRAS SLC2A2 CTNS GATM CLCN5 CYP27B1 NDUFAF6 EHHADH NAB2 STAT6 OCRL GCM2 KCNJ18 FAH COL4A3 VDR GNAS PTH1R AP2S1 PHEX CACNA1S FAM20C ALDOB TCIRG1 CASR FGF23 DMP1 CYP3A4 SLC34A3 TNFSF11 SLC9A3R1 SNX10 HRAS INPPL1 CLCN7 KRAS HP_HYPERURICEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERURICEMIA PPARG HMGCL HPRT1 ALDOB TNFRSF11B REN MYC ALMS1 HNF1B LMAN1 SLC37A4 MCFD2 SARS2 MUC1 SH2B1 PFKM PRPS1 FBP1 G6PC1 CLDN16 UMOD TNFRSF11A ACAT1 SEC61A1 HP_INCREASED_SERUM_LACTATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SERUM_LACTATE POLG2 SLC25A3 CYC1 SURF1 PDSS1 TRMT10C MT-TN NDUFA9 MT-TS1 HIBCH RNASEH1 DNM1L AGK SFXN4 UQCRB CHCHD10 MT-TP MT-ND6 PDHA1 EARS2 SYNJ1 MT-TK COX14 MIPEP C1QBP MTO1 FARS2 RARS1 CLPB PNPO MRPS28 TIMM22 TXN2 MT-ND3 SDHB MT-TS2 MRPL44 NAXE LRPPRC ATAD3A MT-ND1 PC DNAJC19 MECP2 HPDL UQCRC2 MRPS16 MDH2 COQ4 MT-ND4 WARS2 NDUFA2 LIAS CARS2 SCO1 FASTKD2 POLG ISCU ECHS1 BCS1L LYRM7 MT-TH MTFMT DLD PDSS2 AARS2 LIPT2 TRMU TWNK NDUFA11 TMEM70 MT-ND2 KARS1 PDHX TK2 NDUFA1 SUCLG1 MT-CO1 MRPS22 PNPLA8 NDUFA8 MT-TW NDUFC2 ATPAF2 TACO1 NDUFAF3 LIPT1 NDUFB8 SLC19A3 SLC25A26 SLC7A7 PYGL LONP1 OGDH ACAD9 RARS2 SLC25A10 UQCRQ HS6ST2 GTPBP3 PUS1 MTRFR RRM2B GFM2 NDUFS8 NARS2 SLC25A4 PNPT1 OCRL MRPL3 CYP27A1 MT-TL2 ISCA1 PHKG2 HSD17B10 GYS2 MT-TF ACAT2 PET117 MT-TL1 NGLY1 SLC25A42 CA5A COX5A MT-ND5 PITRM1 MRPS34 COQ2 COX6A2 FBXL4 AIFM1 COX20 LDHA MT-ATP6 COX10 TRMT5 PET100 PMPCB DARS2 NDUFAF6 FDX2 SERAC1 TANGO2 MT-CO2 NDUFA12 NDUFS2 MPC1 COQ8A NDUFS3 COX15 COQ9 NDUFA10 SCO2 NDUFV2 TSFM GOT2 TARS2 MRPS14 HTRA2 NDUFA13 SDHA COX8A NDUFV1 NDUFS7 HMGCL NDUFA4 MT-CO3 TIMM50 MICOS13 NDUFS1 TMEM126B ADAMTS13 SOD1 YARS1 NFS1 FOXRED1 YARS2 MT-TQ UQCC3 MRPL12 NDUFS4 PDP1 MT-TV NDUFAF1 COX4I1 TUFM MT-TI DGUOK COX6B1 GFM1 NDUFAF5 NDUFAF2 ACAT1 RMND1 NDUFB9 HP_HYPERKALEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERKALEMIA CYP11B2 LPIN1 GABRA3 CACNA1S RYR1 CYP11A1 MRAP ABCB6 KLHL3 CA12 SLC30A9 SAMD9 WNK4 SLC2A1 SCNN1G SCNN1B SCN4A KCNJ18 HSD3B2 CUL3 SCNN1A MC2R WNK1 STAR INVS NR3C2 NNT ALDOA TXNRD2 HP_HYPERTRIGLYCERIDEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTRIGLYCERIDEMIA PHKG2 PLIN1 XIAP PPARG LCAT SLC2A2 CREB3L3 LRP6 POLR3A PNPLA2 LMNA NSMCE2 RAI1 DEAF1 FECH MC4R BSCL2 UNC13D TTPA LPL FOS ABHD5 FLII PHKA2 SLC25A13 MCM10 AGL PRF1 PIGT SYNE1 SLC29A3 LIPE PIGH LEP RSPO1 POLD1 LEPR LIPC CAVIN1 DAAM2 AGPAT2 PSMB10 CIDEC STXBP2 SGPL1 LIPA JAG1 TMEM43 PSMB9 APOE MTX2 CEP19 LMF1 APOA5 PSMB8 IQSEC2 APOC2 CYP7A1 LDLRAP1 CAV1 ALMS1 STX11 LYST FARSA SMPD1 HAVCR2 FHL1 SLC37A4 PYGL YARS1 XRCC4 SYNE2 SLC7A7 ABCA1 AKT2 GPD1 PSMB4 GK AEBP1 PLVAP EMD HP_HOMOCYSTINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HOMOCYSTINURIA MTRR MTHFR CBS ABCD4 PRDX1 LMBRD1 HCFC1 MTR MMACHC MMADHC HP_HEPARAN_SULFATE_EXCRETION_IN_URINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPARAN_SULFATE_EXCRETION_IN_URINE NAGLU IDS SGSH HGSNAT VPS33A GNS GUSB HP_HYPERHOMOCYSTINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERHOMOCYSTINEMIA MTRR LMBRD1 ABCD4 PRDX1 MMACHC SLC19A1 MTHFR CBS AHCY MTR MMADHC HP_LOW_POSTERIOR_HAIRLINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_POSTERIOR_HAIRLINE NSD2 A2ML1 PTPN11 CTBP1 HDAC8 CNOT3 B3GAT3 RIT1 MAFB KCNJ8 MEOX1 KRAS KNSTRN SHOC2 VPS51 GDF6 SLC25A24 PGAP1 APC NRAS RAF1 FOS SRCAP CPLX1 CHRNG EFNB1 LETM1 WBP11 AEBP1 NIPBL CAVIN1 BRAF ANKRD11 AGPAT2 ACTB CBL CCDC22 MAP2K1 XYLT2 CHST3 NELFA RRAS SOS2 SPRED1 ACTG1 UBE2A MYH3 BRD4 MYO18B TMCO1 SALL4 MAPK1 ALDOA SOS1 PIK3CD PPP1CB MAP2K2 WASHC5 BSCL2 RAB3GAP2 IRX5 ABCC9 PHF8 ALG9 CREBBP TBX15 MRAS VPS33A GDF3 MADD SMC3 NFIX LZTR1 NANS NOTCH3 ZNF699 IGF1 SMC1A CAV1 TFAP2A FGFRL1 ALG12 PEPD INTU KDM4B GNE HUWE1 RASA2 SRY PIK3C2A CDH2 RRAS2 RAB3GAP1 EP300 EDEM3 NF1 PPARG SMARCD1 PIGG CHN1 RAD21 HP_NAIL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NAIL_DYSPLASIA RNU4ATAC GJB6 PLEC TRPS1 GPC4 TFAP2A LAMB3 SATB2 NTRK1 BMP2 GLI1 KRT6B DPM1 VEGFC DYNC2LI1 ROR2 COL7A1 LRP4 MBTPS2 NSD2 RIPK4 PIGV RPS6KA3 LMX1B GLI3 IFT43 GJA1 BMP4 ATP2A2 TP63 TERT PRKACA WNT5A CTSK TERC NECTIN1 FGFR3 FERMT1 EZH2 EVC KRT5 RNF113A NXN NHP2 ATP6V1B2 CLEC7A FOXN1 MSX1 KRT1 ABCA1 WRAP53 HLA-C RNF13 KRT14 ITGB4 IHH SHANK3 MMP1 FZD6 DVL1 STXBP1 ERCC3 SLC39A4 FGFR2 GPC3 ECE1 ERCC2 EXT2 FGFRL1 EDA CPLX1 IKBKG WDR35 POP1 IL17RA NFKB2 TAF1 IL17F WNT10A PLCD1 FLT4 DSP TINF2 KRT17 GTF2H5 EVC2 POC1A IL11RA LAMC2 RECQL4 CTBP1 PRKACB NOP10 SREBF1 SMARCD2 ORC1 MPLKIP SOX18 KRT83 EOGT GJB2 EFNB1 ANTXR1 LETM1 LAMA3 TRPV3 TRAF3IP2 ITGA6 IL17RC FLNA ALG3 HRAS PHYH ATR FHL1 PORCN BHLHA9 TARS1 GJC2 SETBP1 TRRAP FGF10 TBC1D24 KRT81 PTDSS1 KRT86 POMP COL17A1 SUZ12 PEX7 ARX HOXC13 DVL3 KRT85 GTF2E2 EDARADD WNT7A SOST LPAR6 DKC1 SLURP1 NSD1 TGM1 INSR ANAPC1 SRY FAM111B EDAR PLOD3 ATL1 FZD2 KRT16 KCTD1 EED CTC1 STIM1 KRT6A HP_IMPAIRED_VIBRATION_SENSATION_IN_THE_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_VIBRATION_SENSATION_IN_THE_LOWER_LIMBS KLC2 BSCL2 ABCD1 ERLIN2 CACNA1G WASHC5 PDYN SCO2 FLVCR1 RTN2 GBA2 PDK3 SPAST ARSI MT-ATP6 ALDH18A1 KLHL9 SAMD9L PEX6 CYP7B1 HARS1 GCH1 FAR1 DARS2 SACS SLC33A1 HSPD1 POLR3A VAMP1 VCP KCND3 REEP2 FLRT1 KIF5A SPG11 UBAP1 WDR48 PRKCG HINT1 PMP22 CPT1C SPG7 B4GALNT1 ATL1 TDP1 NIPA1 HP_SCANNING_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCANNING_SPEECH PAX6 ATXN1 COQ2 CCDC88C ITPR1 TMEM240 ATXN10 PLP1 SACS DAB1 TPP1 PNPLA6 CP HP_CLONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLONUS FA2H ERLIN2 SLC25A15 AMPD2 MED17 PRUNE1 ADGRG1 RTN2 ATP6AP2 KIF5A GBA2 SPAST PRPS1 TIMM8A SELENOI PTS SAMD9L CCT5 NDP SIGMAR1 CAPN1 SLC39A14 TANGO2 PLPBP KDM1A SPTBN1 KIF1A RAB18 MTRFR ZFYVE26 VPS37A PC UBAP1 ABCB7 ZFYVE27 TSEN2 ERLIN1 LMNB1 SLC16A2 SPART HTT KIF1C OSTM1 SPG11 NIPA1 SLC6A9 REEP1 POMT1 SLC25A21 TIMM50 CARS1 SLC52A3 GALC PIGT KCNT1 PIGP POMK CYP7B1 ALS2 SLC2A3 GFM2 SLC33A1 SOD1 ABCD1 STUB1 SLC1A4 FKRP UFC1 SETX USP8 ATL1 TRAK1 POU3F4 BRAT1 KCNQ2 GMPPB WASHC5 SYNE1 FGF13 UCHL1 PET100 HIKESHI KCNQ3 POMGNT1 POMT2 SEPSECS PSAP OCRL CAV1 FUS ANO10 SLC44A1 HP_INTRACRANIAL_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRACRANIAL_HEMORRHAGE BRCC3 ITGA2B TENT5A SDHD JAK2 KDELR2 TGFBR2 GP1BA ENG COL3A1 PDCD10 F7 CLCN2 F5 STAT2 FBN1 FOXE3 WAS MYH11 VHL IVD SMARCB1 MMACHC MAX ANGPTL6 COL4A2 ATP7A F13A1 CYP11B1 ERCC8 ADA2 SH2B3 TGFB2 SERPINF2 APP AKT1 ACVRL1 TGFB3 MBTPS2 F8 BAP1 CYP26C1 SDHB SMAD3 KANSL1 HELLPAR TMEM127 PROS1 F2 DPAGT1 LMAN1 SAMD9 FN1 MCFD2 ACTA2 PIK3CA NF2 CD109 SMARCE1 TGFBR1 KIF1B ITGB3 RET RASA1 THSD1 GATA2 CST3 HEY2 NOTCH3 SMO LMNA MYLK PMM2 PDGFB SMAD2 SDHC TERT GCDH KRIT1 PRKG1 FGA ERCC6 WIPF1 CBS LOX DOCK8 CCM2 DLST CYP11B2 MAT2A GP1BB FGB ZMPSTE24 COL4A1 PCCB F10 ELN CFH SMAD4 SPARC CACNA1D TRAF7 LMBRD1 EPAS1 SDHA CPT2 FH FGG USP18 ACAD9 PCCA TGFBR3 MFAP5 DNMT3A SLC25A11 PET100 CFI GDF2 PTEN F13B SUFU GNAQ KCNJ5 NDE1 SDHAF2 MMUT COLGALT1 GBA ITGA2 FCGR2C ABCC6 SERPINE1 ALPL RNF168 NF1 CD46 MDH2 HP_GLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLIOSIS THOC2 PRNP MAPT FUS PIGA COX15 TYROBP NAXD PLA2G6 PDHA1 ADAR SNCAIP ATXN3 CHCHD10 FBXO7 ATXN8OS PMPCA FARS2 RANBP2 ADH1C TSEN54 LRRK2 SQSTM1 MAN2B1 ZNF335 VCP EIF4G1 EIF2B1 LRPPRC SERPINI1 PRKN MOCS2 NUP62 SCO2 TARDBP TBCD HTT L2HGDH EIF2B5 ETFA GBA AKT3 VRK1 GIGYF2 ETFDH SLC25A46 ATP6V1A NGLY1 HSD17B4 TBP SNCA TLR3 NR4A2 AVP PAX2 KCNT1 KDM3B ATXN2 POLG PSEN1 C9orf72 NDUFS2 PLP1 TBK1 PIK3CA ETFB GRN EHMT1 EIF2B4 AP4M1 NDUFAF3 VPS35 CSF1R YY1 GLUD2 TFG EIF2B2 DYRK1A DNAJC13 LONP1 BRAT1 ERCC6 MOCS1 GDAP2 NDUFB8 MT-ATP6 SURF1 NARS2 EIF2B3 UBQLN2 ARX CYP27A1 LMNB1 KMT2C HP_POSTURAL_INSTABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTURAL_INSTABILITY MME COQ2 MAPT DDHD1 ENPP1 RNASEH1 POU3F3 PNKP ERCC8 SNCAIP TIMM8A ERCC1 SYNJ1 FBXO7 ATXN8OS NF2 SLC30A10 DNAJC6 GIGYF2 FAR1 ADH1C LRRK2 PLA2G6 PRKAR1B EIF4G1 ATXN3 ERCC6 RPE65 PRKN VPS35 PINK1 CACNA1A ALDH18A1 PODXL LRAT ATP1A3 GBA SDHA SNCA SPG7 PDGFRB UCHL1 SCN1A C19orf12 CLN5 TRPC3 ATP13A2 GARS1 NR4A2 SPATA7 ATXN2 LCA5 VPS13C ABCC6 KCNC3 HTRA2 STUB1 PDGFB ADAT3 CSF1R GLUD2 KCND3 DNAJC13 TBP CACNB4 RUBCN PARK7 COL4A1 PMP22 TAF1 RFC1 SLC20A2 ERCC4 ATP1A2 PRRT2 CXCR4 KCNA1 OPHN1 HP_HYPOGLYCEMIC_SEIZURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOGLYCEMIC_SEIZURES ABCC8 MRAP SLC16A1 POMC HADH GLUD1 POGZ TBX19 PROP1 HNF1A MC2R AKT2 STAR SLC37A4 KCNJ11 INSR UCP2 NNT TANGO2 PCSK1 TXNRD2 GCK HP_POSTURAL_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTURAL_TREMOR MT-ND4 MT-CYB CACNA1G KCND3 ITPR1 POLR3B NIPA1 DRD3 COL6A3 MT-CO3 ALDH18A1 ATXN1 MYBPC1 MFN2 MT-ND5 PARK7 FMR1 TMEM240 VAPB POLR3A MT-ND2 GCH1 TENM4 DNAJC30 PPP2R2B STUB1 MT-ATP6 MT-ND1 MPZ PRKRA PIK3R5 FGF14 MT-ND6 COQ2 MT-ND4L NDUFS2 SETX ATXN2 PMP22 REEP2 ATP13A2 MT-CO1 TSPOAP1 GALT SCARB2 LMNB1 FUS CARS2 BSCL2 TH OPA3 NDRG1 TPP1 TUBB4A ANO3 NOTCH2NLC HP_SPINAL_CORD_COMPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINAL_CORD_COMPRESSION B2M KIF1B COL2A1 APC CREBBP NEPRO B3GALT6 FOXE1 FLNB RMRP AKT1 CCND1 SLC26A2 HBB EXT1 TRPV4 IDS GNAS DDR2 MINPP1 HABP2 IDUA DNA2 ARSL EP300 COMP PHEX EXTL3 EXT2 HP_OPISTHOTONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPISTHOTONUS MCCC1 HPRT1 GLYCTK ACP2 PANK2 CRLF1 POU3F3 ALG11 MOCS2 ASPA GALC OPA1 PHGDH GPHN MOCS1 TSEN2 SLC19A3 CARS2 CYB5R3 PAFAH1B1 FUZ PTS TUFM UGDH PSAT1 NDE1 NDUFA8 SIGMAR1 ALS2 SETBP1 MCCC2 PSAP VPS53 CLPB TSEN54 SPG11 KCNJ6 GCDH FUS GBA AASS ADSL EXTL3 HP_NEURODEGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEURODEGENERATION PANK2 FA2H TTC19 HSD17B10 ABCD1 DCTN1 PON2 RNASEH2C ANG PPARGC1A GUSB PON1 TAF15 NAXD PLA2G6 ZBTB20 PCNA SQSTM1 COASY C19orf12 NBN ATXN3 UBTF SOD1 CHMP2B CFAP410 RNASEH2B GLE1 RNASEH2A ATXN2 PON3 C9orf72 SLC2A3 TREX1 GLT8D1 OPTN ERBB4 CSF1R EPHA4 IDS CHCHD10 SPTBN1 TREM2 UBQLN2 GALC TXN2 UNC13A DAO TARDBP FIG4 VAPB FTL NEFH FUS DLAT TANGO2 PRPH HNRNPA1 HTT IDUA LYST UCHL1 COQ2 MATR3 IFIH1 SAMHD1 TBK1 VCP GM2A NARS2 NEK1 MFSD8 ADAR PDE8B ANXA11 CCNF MAPT WDR45 PRNP FOLR1 AARS2 PFN1 HP_CEREBRAL_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_EDEMA NDUFS4 CACNA1A SCN1A ACAD9 TRAF3 BCKDHB CPT2 ASL NAXE TBK1 OTC NAXD SMS UNC93B1 SLC25A13 LAMA2 CPS1 COX16 TLR3 ACADM TICAM1 ATP1A2 KCNQ2 RANBP2 BCKDHA PRRT2 ASS1 DBT HP_PHONOPHOBIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHONOPHOBIA BAZ1B LAT2 STX1A NCF1 GTF2I SLC1A3 RFC2 TNF FKBP6 GTF2IRD1 CLDN4 DNAJC30 VPS37D CLIP2 ELN CREBBP MLXIPL EDNRA ABHD11 BUD23 ESR1 EP300 TMEM270 METTL27 BCL7B TBL2 GTF2IRD2 LIMK1 CLDN3 EIF4H HP_NEUROFIBRILLARY_TANGLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUROFIBRILLARY_TANGLES MPO APP SORL1 ABCA7 TOMM40 APOE TREM2 NOS3 PSEN2 PSEN1 PLA2G6 NPC2 VPS13C NPC1 PRNP GRN MAPT ITM2B PLAU HFE CYLD HP_APRAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APRAXIA RORA MYT1L DLL1 TRAPPC11 MRE11 KMT2E FUS CCDC32 CC2D2A TOMM40 GALK1 NHLRC1 CEP290 PIGL ATP6AP2 SRPX2 PNKP PTCH1 ARMC9 GRIN2A AHI1 POU4F1 FOXP2 ZIC2 CHCHD10 TYROBP MAPT GABBR2 NTNG1 CHD1 STXBP1 TMEM107 GRID2 PRNP TDGF1 HYLS1 FGF8 WDFY3 PIGV SH2B1 MYO9A CEP41 KDM1A BRAF VCP MAST1 DISP1 RPGRIP1L SLC12A2 SIX3 KANSL1 SNX14 MECP2 XRCC1 CPLANE1 TARDBP GRIA4 ARL13B FGFR1 TREX1 PIK3R5 RNF135 GRN TMEM237 PIGY GAS1 CEP104 LAMA1 TMEM67 FOXH1 C9orf72 AFG3L2 INPP5E ACTL6B CEP120 KCNMA1 TUBB3 ZC4H2 CBY1 ARL3 TTC19 NKX2-1 TCTN1 PIBF1 GLI2 NODAL NGLY1 ITPR1 HUWE1 ABCA7 TBP STAG2 APOE FOXG1 HS2ST1 TREM2 ATP1A2 BPTF GBA CDKL5 NPHP1 PUS7 PTPN23 UBR7 SHH TBK1 GPAA1 MKS1 TOGARAM1 SETX CACNA1G UFC1 NONO MED13 RLIM TMEM216 ACTL6A RAI1 APTX KIAA0586 SUFU MAPK8IP3 TMEM106B HPDL USP7 PIGW TGIF1 ATXN2 DDOST ATP1A3 BCORL1 GALT CRKL KDM4B FOXP1 SRCAP BCR PSMD12 TMEM231 CDON ATP13A2 AGO2 SQSTM1 PSEN1 PLA2G6 PGAP3 AARS2 PALS1 JARID2 PANK2 SLC2A1 PURA CWF19L1 TUBB2B SMC1A ZMIZ1 TIMM8A CSPP1 WASF1 TCTN2 PGAP2 KIAA1109 GCK ADGRG1 PEX2 SPR PACS1 DLAT SORL1 APP IFT172 TRIP12 SVBP TANC2 PSEN2 MED27 KCNJ11 SYNJ1 PDX1 STAT3 FRRS1L DNM1L KATNIP EPM2A CNOT3 MAPK1 TPP1 TCF20 KDM6B KAT8 CHD3 DPYSL5 SLC25A15 B9D1 SLC30A9 PIGO EXOSC3 DDX6 EBF3 PI4KA XRCC4 FA2H SPART SMPD1 INS NTNG2 ABCD1 STUB1 DOCK3 CSF1R SLC1A3 CACNA1A PMPCA TOE1 HTT TMEM138 ABCC8 TNRC6B VPS11 PDE6D SPG21 TRMT1 CHMP2B TRAPPC4 PLP1 SATB1 FBXW11 UBE3A SOX3 MADD HP_INTELLECTUAL_DISABILITY_PROFOUND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTELLECTUAL_DISABILITY_PROFOUND GAD1 MID2 SCN1A BUB1B ZNHIT3 STRA6 RNASEH2C MBD5 ARHGEF6 PDHA1 DMXL2 PRPS1 SYNJ1 PCDH19 UBTF RAB39B PCDH12 SLC9A6 UNC80 CHAMP1 EPB41L1 GDI1 RNASEH2A DEAF1 ZNF41 BRSK2 OCLN TREX1 CLTC TRAPPC4 PIGG RPS6KA3 SLC39A8 SPTAN1 KCNQ5 NBEA ALG13 SLC9A7 HIVEP2 CAMK2B IDS VARS1 IER3IP1 ADAM22 ZNF81 MECP2 KDM5B AIMP2 USP27X CIC RAB18 CNPY3 FRMPD4 PUS3 HSPD1 NACC1 RNF13 ST3GAL3 ATIC AGTR2 PTCHD1 CDH15 CACNG2 IFIH1 NDE1 FKRP TAOK1 FGFR3 PAFAH1B1 SAMHD1 ARX CRPPA KIRREL3 FTSJ1 PAK3 ASXL3 CDKL5 WARS2 AP1S2 POMT2 TSPAN7 ASH1L SYNGAP1 ASXL1 RAB11A CSNK2B ZMYND11 TRPM3 MED12 MYT1L GUF1 IQSEC2 STXBP1 NGLY1 STEEP1 EEF1A2 PIGU SLC1A2 UGP2 SLC16A2 KIF1A TBCD SMS SHROOM4 SETD1B GRIN2B SYP PIGP IL1RAPL1 SETBP1 P4HTM DPM3 DLG3 WDR45B RNASEH2B FKTN POMT1 UPF3B GRIN1 LARGE1 VPS53 SET KCNJ6 USP9X TCF4 ATP6V1E1 CLCN4 DPYD TBC1D20 MED12L CUX1 LONP1 CLIC2 ERCC6 FAR1 DOCK8 POMGNT1 NSF FH HCFC1 PPP3CA ELOVL4 ATP6V1A ATP6V0A2 ARV1 SEPSECS EMC1 ADAR DMD RNF113A DYNC1H1 CCDC88A DLL1 PIK3R2 OFD1 ACSL4 CAMK2A ZNF711 CNKSR2 HP_DELAYED_CNS_MYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_CNS_MYELINATION EXOSC1 ZMIZ1 RERE CNOT3 CLTCL1 DHX37 ACY1 PIGU SLC12A5 TMEM63A POU3F3 CARS1 PHACTR1 CUL3 ALG14 ITPA SHANK3 SLC13A5 ACTL6B AP3D1 CDC40 PGAP1 VPS33A SMG9 FANCB PKDCC TMEM240 MADD STXBP1 TXN2 PIGS TBC1D24 ALDH5A1 KDM1A PEX7 ZC4H2 D2HGDH POLR2A ATP6AP2 NARS1 TIMM22 LMX1B MLYCD RAB3GAP1 PPIL1 PLPBP KIDINS220 SMPD1 UPB1 CDK19 FAR1 TRNT1 RNF13 NCDN ADARB1 MORC2 BMP4 SLC35A2 ALG9 UGDH SLC16A2 NRROS NUP188 VPS11 MMUT AIFM1 EIF2AK2 TKFC SETD1A FRMPD4 EXOC8 CTNNB1 ALDH7A1 RBM8A TGFB1 ARID1B FOXP1 DDX6 POGZ HS2ST1 NMNAT1 HP_CHOROID_PLEXUS_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOROID_PLEXUS_CYST FH FOXF1 NPHP3 ZSWIM6 SETBP1 IFT43 PHGDH EXOC8 HP_PROGRESSIVE_SPASTICITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_SPASTICITY PLAA GALC ARG1 FA2H ATP13A2 PLP1 ARSA HSPD1 MSL3 TBCD GLRX5 DEGS1 OPA1 PAFAH1B1 SELENOI POLG NADK2 NKX6-2 GJC2 MECP2 RPS6KA3 SPG11 ACP5 GM2A DARS2 PSAP PLA2G6 SPTBN1 HP_DELAYED_GROSS_MOTOR_DEVELOPMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_GROSS_MOTOR_DEVELOPMENT KLC2 RORA MYT1L LMNB1 KMT2E HERC2 REPS1 CCDC32 CNOT3 CNTNAP2 SATB1 AHDC1 FAR1 FLVCR1 COL12A1 PUS7 VPS51 SELENOI GABBR2 RTL1 KMT2A NTNG1 SPOP STXBP1 SIGMAR1 TNRC6B CAMK2A WDFY3 PIGG TK2 CLPB OTUD6B CUBN SELENON COL13A1 AMPD2 PPP2R5D MYO9A NBEA TRIO RUBCN POLR2A SNRPN KDM1A PPP2CA APC2 DHX30 FBXL3 ERLIN2 CHRNB1 LSS FITM2 SDHB SLC12A2 RYR1 CPLX1 PCYT2 ZEB2 TRNT1 SCN4A NEXMIF NCDN GALE CDK13 DNAJC19 ADARB1 SNX14 KIAA0753 WASF1 ZSWIM6 GLS GRIA4 POLR3K MECP2 DOCK3 SLC6A3 SHMT2 MT-TE FASTKD2 ACTL6B MYF6 BRPF1 KCNMA1 TCF20 TUBB3 SPG11 HARS1 EP300 LAMA2 ARID1B DPM3 PIEZO2 DOK7 XYLT1 TNPO3 CWC27 FBXO11 ZNF148 KARS1 WDR26 NGLY1 PHKG2 ITPR1 HECW2 HUWE1 COL1A1 LMNB2 INPP5E FOXG1 HS2ST1 TMEM63A BPTF CARS1 CHRNE CDKL5 TRAPPC9 NPHP1 CUL3 PTPN23 NDUFA1 AHI1 UBR7 PNP WDR4 P4HTM SYNE1 PLOD1 NDUFA8 CLCNKB PAK3 ALMS1 HOXA1 IQSEC1 EHMT1 MAPK8IP3 NDUFA12 PLEC HK1 DSE SMARCA2 MUSK NONO ADCY5 MED13 RLIM YY1 KDM4B KAT8 COL1A2 KIF14 ACTL6A LRP4 CREBBP CLP1 HPDL TAF1 CYP3A4 MSL3 HS6ST2 PHEX MORC2 HNRNPK CHST14 PPP2R1A BCORL1 PTEN CHRNA1 CDH2 UGDH PSMD12 TET3 CLCNKA FGF3 UBE2A AGO2 TBR1 MTMR14 SMARCD1 FTSJ1 TGFB3 DYNC1I2 NAA10 PALS1 JARID2 NEUROD2 RAB11B RAI1 SEMA6B SLC9A7 AK9 PLP1 CLCN7 UBE3A SLC25A42 YIF1B RAB3GAP2 ZMIZ1 GARS1 PAK1 LRRC32 COG1 BIN1 CDC40 PGAP1 TMTC3 PHKA2 MPZ SET ATG5 DAG1 FKRP OPHN1 DHPS CHRND SHOC2 SYT1 BMP1 BSND PRMT7 ACTN2 TANGO2 STAG2 NCAPG2 SLC5A7 ABCA2 DLAT KIDINS220 PACS2 SON TRIP12 MFN2 MRAS SVBP ASXL3 FLRT1 TMEM94 TANC2 MTPAP DLK1 MED27 PIGC CSNK2B PAFAH1B1 SUCLA2 RAPSN RUSC2 SMC1A MRPS14 ARL13B LRP5 KPTN FRMPD4 MEG3 ATG7 MAGEL2 PNPLA2 FOXP1 SLC18A2 TRRAP BCL11B SPTBN4 SETD5 ODC1 CLDN11 FIG4 FDXR MYH7 GJC2 CHD3 DPYSL5 MESD TIMM50 RPL10 DPF2 SLC16A2 SLC25A1 DDX6 DNM2 EBF3 SCN2A KDM3B SMPD1 KDM5B NTNG2 GALNT2 ALS2 PIGO RNU12 GRIN1 RALA CASK MRPS25 YARS1 ZC4H2 ALG12 CFL2 NARS1 EXTL3 DYNC1H1 LARS1 POMT2 BRAT1 VPS35L KY PMPCA AMN TRMU NFASC CHST3 HTT ATP10A KLHL15 FBLN1 TRIM2 RAB3GAP1 COPB1 AP3B2 ATP6V1A TRMT1 TTN MBOAT7 TNNT1 TRAPPC4 AGRN GAA FBXW11 FUS CNKSR2 KMT2C MADD NMNAT1 HP_DYSGENESIS_OF_THE_CEREBELLAR_VERMIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSGENESIS_OF_THE_CEREBELLAR_VERMIS CSPP1 ODC1 RAC1 TMEM216 INPP5E KIAA0753 KIAA0586 HP_MYELOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYELOPATHY EXT1 NF2 GLB1 RASA1 GALNS NAXE GNPTAB ARSB ABCD1 EXT2 CYP27A1 DKK1 COL2A1 BTD NMNAT1 HP_GENERALIZED_ONSET_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_ONSET_SEIZURE SEPSECS SLC25A15 YEATS2 CNTNAP2 PCDH19 SATB1 PIGA BUB1B SCN9A DNM1L GRN GRIN2A NDE1 SLC25A22 DPM1 NSUN2 GRIK2 SCN1A SLC9A6 AIMP1 MT-TP WASHC4 KCNMA1 SARS1 NBEA SLC9A7 HIVEP2 IER3IP1 GRM7 KDM5B UBE4A SCN1B ATXN10 STXBP1 FRMPD4 SCN8A GABRG2 ZEB2 UFSP2 NDST1 NEXMIF MT-ND1 PTCHD1 CDH15 ARHGEF9 ARX GDI1 SCN2A MT-ND4 CTNND2 PLAGL1 CARS2 KCNA1 COQ5 SIK1 CSNK2B MT-TF SLC6A1 PIGP KATNB1 ZMYND11 TRAPPC9 TRPM3 DPM3 CACNA1A MT-ND2 NGLY1 CRBN CDKL5 SMS CASK SYP DLG3 CACNB4 CACNA1H PRRT2 PAK3 ALDH5A1 ALMS1 DOCK7 ERCC2 RELN AFG3L2 DPM2 EFHC1 MED13 PLPBP KCNB1 GLB1 CUX1 HYMAI DNM1 AP2M1 TSEN2 HNRNPK SLC2A1 B3GALNT2 TREX1 KCNT2 KCNQ3 DMD CHD2 GTF2H5 SLC35A3 DLL1 SLC12A5 FRRS1L ACSL4 CEP85L ZNF711 ANO10 CNKSR2 MID2 DMXL2 PURA MBD5 TRIM8 MT-ND5 PRICKLE1 GPHN PGAP1 MPLKIP NUBPL RAB39B GPAA1 SDHAF1 EPB41L1 DEAF1 GBA BRSK2 GCK DEPDC5 RPS6KA3 LINS1 MT-TQ ALG13 TANGO2 CAMK2B PNKP MECP2 USP27X SEC31A SMARCA2 DPAGT1 CSTB SETD2 MT-TK TAOK1 CILK1 TBCD SCARB2 PDX1 KIRREL3 TARS1 HNMT STX1B ASH1L SYNGAP1 EPM2A RAB11A COX8A OSTM1 KANSL1 PIK3CD NHLRC1 NUS1 MED12 DCX GNAO1 IQSEC2 CLN5 EEF1A2 SLC12A2 KIF1A PRDM8 GRIN2B PLAA EHMT1 PSAP GTF2E2 LAMA2 SMPD1 SLC45A1 UPF3B SDHB GRIN1 SATB2 USP9X NARS1 EXTL3 GABRB3 JRK MARCHF6 CLCN4 CLN8 BRAT1 TSEN15 SDHA ATP1A1 NCDN MT-TS2 CUX2 KNSTRN ABCC8 MT-TI EXOC8 TMX2 COG2 CC2D1A PLCB1 CRADD TSEN34 CAMK2A BTD SDHD GAD1 RPL10 FAR1 GABRA1 SLC13A5 ASAH1 NFKB2 C12orf4 PCDH12 GABBR2 ADGRG1 ZNF41 PIGQ MTHFR CLTC ADGRV1 KCNQ5 APC2 ZNF81 MT-ND3 MED25 CPLX1 PCYT2 GOSR2 AGTR2 DHDDS GABRD ZC3H14 ATAD3A KCNJ10 FTSJ1 KCNQ2 TECR GATAD2B MED23 RNF113A MAPK1 MAPK10 MT-TH MYT1L IQSEC1 LMAN2L KARS1 WDR26 CLIP1 KCTD7 RORB METTL23 GALC PRSS12 SON SETD1B NDUFA1 ST3GAL3 MT-TW ERCC3 GAMT ALDH4A1 DCPS AFF3 PTEN PIGM SAMD12 LNPK ACSF3 SZT2 HCN1 TTC5 FBXO31 ELOVL4 GLUD1 RSRC1 XK MFSD8 TK2 ALDH7A1 EZR OPHN1 MAN1B1 TBC1D24 MT-RNR1 UBE3A ARHGEF6 EDC3 KIF4A CHAMP1 MT-ATP6 PIGT NSD1 NTNG1 NEUROD2 GABRA5 WAC FMN2 CLCN2 ADRA2B CIC NEU1 ALKBH8 CACNG2 PAFAH1B1 KCNJ11 STAT3 TNIK TSPAN7 MT-TL1 MT-TS1 CNTN2 HCN2 SMC1A MTOR STEEP1 PIGC ASPA HACE1 IL1RAPL1 MBOAT7 INS PTRH2 FTL VPS53 YARS1 SET MT-ND6 RNU4ATAC TCF4 DYRK1A MED12L TRIT1 DOCK8 SRPX2 FGFR3 LGI1 SPATA5 HCFC1 MT-TV PPP3CA PHGDH DHFR TSEN54 TUSC3 PLP1 DYNC1H1 NEMF HP_DILATED_FOURTH_VENTRICLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DILATED_FOURTH_VENTRICLE LARGE1 MRE11 GPC4 WDR73 BUB3 BUB1B SIX3 POMT2 FLVCR2 TMEM231 POLR3A EBP FKRP FGFR1 VPS51 KRAS ATXN3 NPHP3 OFD1 STIL ZIC1 TCTN3 GLI2 NUP88 C2CD3 TMEM216 KCNQ1OT1 ZIC2 POMK DYNC2I1 BCOR DAG1 TCTN1 ATP6V0A2 IFT80 RAC1 CSPP1 DYNC2I2 PSAT1 WARS2 DPF2 LAMA1 FTO TMEM67 SEMA3E ARID1B DYNC2H1 ATP6V1B2 SMARCB1 PIGN MKS1 SLC35A2 TUBB SHH PPP1CB GPC3 HRAS RPGRIP1L POMGNT2 CDC42 AFF3 KIAA0586 B9D1 ASXL1 SMARCC2 ATXN2 FAR1 POMT1 IGF2 MYOD1 NRAS KIF7 DPH1 DISP1 SMARCD1 ATP6V1A ALG3 FGF8 CHD7 TXNDC15 EVC2 B4GAT1 ARID1A TMEM237 ATXN1 TMEM107 SOX4 ARID2 BUB1 SLC18A3 USP9X PLG COX20 AP1S2 NID1 WDR35 DOK7 CEP290 DENND5A SMARCE1 RPGRIP1 COL4A1 WDR81 CCDC22 FKTN B9D2 CRPPA CDKN1C DHCR7 SMARCA4 EXOC2 CPT2 B4GALT1 EVC PIEZO2 WASHC5 HYLS1 PMM2 TBC1D24 MUSK B3GALNT2 PHGDH KCNQ1 SMG9 CEP57 CC2D2A DPYSL5 CEP120 CASK MAB21L1 POMGNT1 GLI3 ATP6V1E1 RAPSN PMPCA GMPPB GRM1 TRIP13 TMEM138 TCTN2 ARMC9 RXYLT1 RNF113A SOX11 HP_HYPOCALCEMIC_SEIZURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCALCEMIC_SEIZURES CYP2R1 GNAS GATA3 TNFRSF11A VDR STX16 TBCE CYP27B1 GCM2 FAM111A HP_PSEUDOBULBAR_SIGNS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSEUDOBULBAR_SIGNS ALDH18A1 HTRA1 SOD1 FIG4 NEFH SRPX2 SEC31A DCTN1 PUS3 SPG7 FBLN1 ERLIN2 PI4KA ALS2 ADSS1 LMNB1 CYP27A1 RARS1 ZFYVE26 GM2A TGM6 ASPA AP4M1 B4GALNT1 NOTCH3 ADGRG1 DNMT1 HMBS PRPH NONO HP_PLEURAL_EFFUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PLEURAL_EFFUSION TSC1 TSC2 MYD88 UBAC2 TCF4 IL10 CCBE1 CYBC1 IL23R LYST KIF11 BAP1 IL12A PRSS1 BCL6 VPS51 FAT4 CCND1 EIF2AK4 HLA-DRB1 MST1 MEFV SPINK1 CCR1 SOX18 IL6 KLRC4 CTRC RASA1 BCL2 FOXF1 STAT4 TAPT1 ADAMTS3 IL12A-AS1 ALG14 C4A CFH HFE LBR FAS BMP2 MAP2K1 CALCRL PRSS2 BRAF SEMA4D BTNL2 HELLPAR HLA-B CFTR PTPN11 DNASE1L3 GPR35 IRAK1 CFI ITK ERAP1 CBL LZTR1 EPHB4 PIEZO1 FSHR TLR4 NR1H4 MIF SPP1 PLVAP LACC1 RIT1 CD46 HP_RESPIRATORY_PARALYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_PARALYSIS ALAD CPOX GABRA3 KCNE3 SCN4A CACNA1S PPOX HMBS KCNJ18 HP_PULMONARY_EMBOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_EMBOLISM PROS1 HABP2 AKT1 DAAM2 PROC FAS ENG UBAC2 MTHFR IL10 GNAQ PLP1 HLA-B MPL IL23R IL12A SERPINC1 KCNJ5 GDF2 CBS TET2 PTEN AGGF1 ERAP1 MMACHC JAK2 MEFV F13A1 CD55 CCR1 KLRC4 STAT4 TLR4 ACVRL1 IL12A-AS1 PIGA C4A F2 SMAD4 HP_RECURRENT_RESPIRATORY_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_RESPIRATORY_INFECTIONS TNFRSF13B RNU4ATAC SH3KBP1 LMNB1 TRPS1 GTF2I SATB1 FCHO1 MGP CFAP221 HLA-DPA1 STX1A HERC2 SLC18A3 TPM3 GAA TRIP11 PTPN22 TECPR2 VPS51 KRAS DNAAF1 TERT TAPBP TNFRSF11A PKHD1 ZAP70 MBTPS2 IVNS1ABP NCF2 IL2RG ARSL DNAAF2 NME8 ECM1 EGFR IER3IP1 NHP2 NFE2L2 CACNA1B CCNO PIK3R1 DNAJB13 GALNS P4HA2 CD247 TET2 RFXAP AGA IRF2BP2 ICOS IL7R TGM1 SCNN1B MYO9A LAT BACH2 DNAAF3 COL11A2 CFI CCDC65 ODAD1 GATA4 NXN SDCCAG8 CHAMP1 SLC6A14 SIK1 TBL2 STAT3 MCM4 RSPH3 CFTR EP300 CIITA CYBB CLEC7A PIK3CD ERF NKX2-1 KATNIP NGLY1 HACD1 TRAIP CCDC39 SRP54 RYR1 GUSB CTBP1 CCDC103 GCLC PYROXD1 IRAK4 DYNC2I2 PARN SUCLG1 NDN B2M SLC26A9 DKC1 IGBP1 DOCK8 DNMT3B ALMS1 NDUFC2 DNAH11 CTCF ROR2 ADNP FCGR2A ARSB COL13A1 LCK WDR1 WAS AK2 ERCC2 RELB DPM2 PEPD TNNT2 MESP2 DNAAF11 TPM2 COG4 CORO1A GAS8 NCF1 TNFSF12 CREBBP KIAA0586 TINF2 BTK SMN1 ASXL1 NEK10 TGFB1 CR2 SMARCC2 COL4A5 NFKB2 DNAJC30 KCNN4 SYT2 RFX5 CD79A SETBP1 BCR PRPS1 SNRPN CFAP410 GNS SLC25A1 SLC26A2 UBE2A BCL7B POLA1 DNAH5 RPGR OCRL PRKCD GTF2H5 DCLRE1C DCTN4 TASP1 TLL1 NFKB1 ATM RNF168 EDNRA SHROOM4 ITGA7 CRELD1 XIAP CEACAM6 HFE PURA ARID2 PET117 COLQ PPP1R21 SLC35C1 GMNN SOCS1 RAB3GAP2 COL5A1 RSPH4A SREBF1 MAGT1 FCN3 IGLL1 ALB MYL9 FAT4 MPLKIP PLG BIRC3 SCNN1A STAT1 DNAH9 GSTM3 JAK3 FUCA1 CPLX1 RAG2 CHAT ELN SLC29A3 ARID1B MAGEL2 TRAF3IP2 KDM5C RUNX2 IL17RC NOTCH2 DNAAF4 EIF4H ABCA12 TTC12 GLUL SCN9A GLI3 SMPD1 PLP1 USB1 DNAAF6 FBLN5 FMO3 SULT2B1 CD27 IDUA GATA6 TARS1 BUD23 TYK2 CCDC22 DNAI1 IKBKB LRRC56 FOXJ1 PLOD1 KANSL1 SNORD116-1 PSMB8 CLDN3 MANBA CYBA AASS AICDA FLNA COL6A1 SCNN1G MDM4 SPTBN4 IGHM MYSM1 RIPK1 TSC2 MALT1 LYST IL17RA TIMMDC1 TBCD RAC2 PLCG2 CLCA4 NBN DZIP1L ODAD3 GTF2E2 LAMA2 MASP2 LRBA DDR2 PWRN1 MECP2 LIPN SIAH1 FOXN1 USP9X WDR19 KCNJ6 MKRN3 MIR140 TONSL MS4A1 SLC11A1 PWAR1 EXTL3 IL6R NR2F2 TBCE SFTPC PEX5 LETM1 EDARADD CYP4F22 MSN CTC1 STK36 FCGR3A NECTIN1 LAMB2 WASHC5 TMEM270 PSAP CTLA4 SLC5A7 BCL10 HPS6 G6PC3 CXCR4 PNP LEPR SOX11 IL2RA NSD2 NRAS SIM1 CD19 GFI1 EXOSC9 ODAD2 STX3 GTF2IRD1 POLR3A SDR9C7 POLE ASAH1 SPINK5 TAP1 CD3D RAG1 ZNHIT3 CD3E HELLS RSPH1 DYM TAP2 ALOXE3 CD81 CD3G INPPL1 TERC FOXP3 LEP HGSNAT POLR2A ITCH RFXANK IDS MYL2 TPP2 PGM3 UNG CD8A ATP6V0A2 SLC46A1 NELFA ADA RSPH9 TNFSF11 DRC1 GBA RAC1 NAGLU NFKBIA CCDC40 TRIP4 MGAT2 LAMTOR2 DPF2 SNX10 RNF113A TNFRSF13C EFEMP2 METTL27 FLNC BLM CD4 CLCN7 SPEF2 SMARCB1 TSC1 STING1 GLB1 ACTA1 CDCA7 MIF CYBC1 IL2RB EPG5 IL21 HLA-DRB1 CD79B UMPS P4HTM CARMIL2 NOP10 CFAP298 ERCC3 LRRC8A UNC119 ADAMTS3 COL4A6 PLEC CEACAM3 ADA2 COL6A3 ODAD4 SMARCA2 DLL3 OCA2 HLA-DPB1 RFC2 AP3B1 TRIM37 ELP1 NCF4 SCN11A IKZF1 NPM1 IL17F CTSC CRKL FOXP1 MCIDAS SMARCD1 ALG12 MTHFD1 TCIRG1 TK2 ORC6 CASP8 CD40LG MED25 SP110 HYDIN PIGG ARID1A SOX4 KIF20A GNPTAB PRTN3 DNAH1 RASGRP1 SAMD9L SERPINA1 ZNF341 MYO5A SMARCD2 SH2D1A HLA-B ITGA3 CLIP2 AP3D1 ABHD11 PCGF2 COL5A2 EHMT1 JAGN1 TFRC SNAP25 ZBTB24 MYH3 NIPAL4 SMARCE1 WAC ALOX12B IFIH1 DNAI2 SPAG1 LAT2 COL6A2 MYPN AGRN CFAP300 NEPRO SMARCA4 CHRM3 ZMYND10 SLC25A22 HMOX1 GATA2 IL21R KPTN STXBP2 MAPK1 IL6ST LIMK1 DNAL1 GAS2L2 BAZ1B TNNI3 BLNK COG6 UGP2 CCBE1 SLC52A3 WIPF1 TBC1D23 VPS33A SCN10A CARD11 RTEL1 VAMP1 KIF1A TBC1D24 WRAP53 ACP5 SELENON CSPP1 SGSH FLI1 GTF2IRD2 TBX6 SLC1A4 OFD1 SLC9A3 FKBP6 TCF3 DNAAF5 CLDN4 NPAP1 VPS37D ELANE PRKDC MLXIPL MAP3K20 PCNT DSG1 TCTN3 ALPL SNORD115-1 IRF8 PKP1 TNFRSF1A KAT6B HP_PULMONARY_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_FIBROSIS THOC2 CEACAM6 HFE FSHR IRF5 PRTN3 RTEL1 NOP10 HLA-DPA1 SERPINA1 STX1A RASGRP1 NDUFAF6 HLA-DRB1 DSP DPP9 KIAA0319L NUP107 MUC5B GSTM3 CAV1 TERT IL1RN POLR3H HLA-DPB1 GBA NHP2 CASP10 TGFB1 FAS HPS1 SFTPA2 RNF168 BTNL2 BNC1 TINF2 TERC BACH2 HPS4 CCR6 HMOX1 SLC6A14 PARN CFTR SLC34A1 NKX2-1 STING1 SFTPA1 MIF CYBC1 SLC34A2 GCLC RAC2 CLCA4 EHHADH CCN2 SLC26A9 SPIDR PLEC CEACAM3 SLC11A1 BMP15 ABCA3 PTPN22 PRKCD SLC9A3 SFTPC DKC1 MRPS22 AP3B1 RCBTB1 FAM13A GATM FASLG FAM111B KCNN4 ZCCHC8 ATP11A STN1 CTLA4 NR5A1 DCTN4 SP110 EDNRA PSMC3IP HP_COARSE_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COARSE_HAIR ATP7A ERCC3 A2ML1 PTPN11 EPS8L3 NRAS KRT74 RIT1 CCDC47 NOTCH3 SREBF1 SEC23A KRAS SMARCAL1 TGM3 SLC25A24 MRAS VPS33A IKBKG RAF1 OFD1 LZTR1 PPP1CB NECTIN4 SGSH NOTCH2 HGSNAT RPS6KA3 ATP6V1E1 LPAR6 ATP6V0A2 CBL CERT1 TP63 RRAS RASA2 SOS2 SUMF1 PADI3 NAGLU RRAS2 ATP6V1A PLOD3 GNS TMCO1 BCS1L SOS1 HR FLNA HP_SPARSE_SCALP_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPARSE_SCALP_HAIR SMARCA2 GJB6 SOX4 BICRA ARID2 EPS8L3 GNB2 NTRK1 NOP10 ITGB6 POLR3A FIG4 SHOC2 WRN HLA-DRA ACD ITGA3 AXIN2 SPINK5 RECQL4 SLC25A24 MPLKIP LPAR6 RBBP8 KRT17 DKC1 PCGF2 ATRIP UBR1 KRT74 SOX18 NECTIN4 NSD1 NHP2 RTEL1 ARID1B SMARCE1 CDH3 TERT KDM1A RIN2 KIFBP LIPH NSUN2 NEPRO FAS CEP152 B3GALT6 PARN SETD2 LSS APC2 SMARCA4 PRKD1 CENPE TARS1 B4GALT7 DPF2 BRAF PLK4 RNF113A PTPN22 HR PPP1CB SMARCB1 ODC1 IGF1R HDAC4 TRAIP CDSN ZBTB20 MAF PCNT LIG4 RNU4ATAC SMARCC2 CBS GTF2E2 KAT6B SNRPE KANK2 WNT10A RIPK4 ERCC3 VAC14 ATR ADNP AHSG CENPJ TP63 KRT25 ERCC2 EXT1 JUP TRPS1 DSG4 EDARADD APCDD1 CLDN1 DPH1 TINF2 SMARCD1 EIF5A LMNA RPL21 DSC3 OCRL GTF2H5 MED25 ARID1A SOX11 HP_WHITE_FORELOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WHITE_FORELOCK MITF SNAI2 KIT EDN3 LMNA SOX10 WRN EDNRB KITLG PAX3 PEPD TFAP2A TYR HP_CURLY_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CURLY_HAIR JUP BRAF HRAS MTOR ST14 KRAS GAN SOS1 CERT1 CCDC47 SOS2 SON AFF4 CDK13 TTC37 NRAS RIPK4 TCHH LZTR1 MAP2K1 PPP1CB DPYSL5 SHOC2 USP9X KRT25 GJA1 HNRNPH2 RAF1 RIT1 HP_FINE_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FINE_HAIR MSX1 GJB6 KRT81 TRPS1 GNPTAB SMAD4 SUZ12 PPP1R15B SATB2 KRAS CARS1 TINF2 ITGA3 TTC37 SMARCAL1 SUOX SPINK5 LIG4 IKBKG ERCC2 ABCD1 WNT10A KRT83 EDARADD MAP2K1 SIN3B BRF1 ALMS1 MED12 KRT86 TP63 TRMT10A LPAR6 KRT25 KAT6B ALX4 CDH3 EDAR DCAF17 GJA1 SLC7A7 NAA10 WDR35 IFT122 SIN3A IFT43 NSD1 NSUN2 RLIM BRAF DSG4 GJB2 CSTB PIGL CBL PCNT LIPH KRT71 HPD EZH2 TWIST2 GATAD2B RMRP KCTD1 EED OCRL COL3A1 NBAS RAF1 KRT74 PYCR1 MAP2K2 HP_PREMATURE_GRAYING_OF_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_GRAYING_OF_HAIR BRCC3 MITF TFAP2A ATM ERCC6 LMNA MYO5A SOX10 WRN ACD ELN RECQL4 PARN TERT RTEL1 DKC1 NOP10 ZNF699 WRAP53 TERC EDNRB SNAI2 MTAP USB1 STN1 ERCC8 NHP2 TINF2 INSR EDN3 FAS CTC1 NPM1 MLXIPL KITLG PAX3 DSTYK RAB27A PTPN22 PSMB8 MDM2 TYR HP_SILVER_GRAY_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SILVER_GRAY_HAIR LYST DSTYK RAB27A MYO5A MLPH HP_FACIAL_HYPERTRICHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_HYPERTRICHOSIS ERLIN2 HMGA2 HDAC8 CDH11 SIX3 CCDC47 UROS BMP2 RAI1 DEAF1 FGFR1 AMMECR1 FREM1 SLC25A24 ABCC9 SPEN KMT2A TRIO STIL FLII SPOP GPR101 GLI2 DDB1 ALG9 TRMT10A HGSNAT KDM1A ZIC2 RAB3GAP1 SPTBN1 DHX30 SMC3 MAP1B INSR SNX14 UBE2A AIP NAGLU SNAI2 MBD5 PAX3 EMC10 TMCO1 NIPBL ATP6V1B2 ARID1B XYLT1 TRAPPC9 CUL4B CDC42 RAD21 HFE TTI2 KCNMA1 ZBTB20 SMS KCNK4 SHH CDKL5 NFIX WNT4 GATA1 NANS PPP1R15B PIGN ZNF699 HNRNPU CTCF PHIP DOCK7 SMARCA2 MED13 KDM4B GNE AFF3 CERT1 ASXL1 TAF1 IL1RAPL1 UROD DISP1 CDH2 UGDH SOX10 OGT GNS NOTCH2 PSMD12 FGF8 WAC TASP1 MITF TALDO1 BICRA CWF19L1 RPS23 COX5A ARL3 FGF3 CHRNA7 CDK10 ZNF711 EHMT1 KCNH1 PACS1 HSPA9 PACS2 PSMC3 SMCHD1 ASXL3 TMEM94 AFF4 FHL1 UQCC2 TBCD BPTF TUBGCP2 RUSC2 BRD4 SMC1A CHSY1 ANKRD11 ABCA5 IQSEC2 NSUN2 SETBP1 SETD5 IGF1R PHF8 POLR3A UGP2 CDON MED27 ARX EBF3 VPS33A TBCK KCNN3 KIT KNL1 MAB21L1 KATNB1 SGSH STAG1 LEMD3 SLC1A4 EDNRB ADAT3 KIFBP ZNF292 TAF6 EDN3 B3GLCT TRMT1 NECTIN1 CSNK2A1 KLF13 NMNAT1 HP_ABSENT_AXILLARY_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_AXILLARY_HAIR EPS8L3 CYP17A1 ZBTB20 AR TBX3 GJB6 PPP2R3C SNRPE APOE HP_ABSENT_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_EYEBROW FRAS1 CWC27 SMARCA2 BRAF ODC1 KRAS UBE3B TWIST2 ANAPC1 AXIN2 KRT85 RECQL4 SOX18 MAP2K2 RIPK4 CDH3 TTC7A DSP JUP ZMPSTE24 UROS MBTPS2 HR LMNA EDA ALX1 HP_WOOLLY_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WOOLLY_HAIR MPLKIP JUP LPAR6 SKIV2L KRT71 DSP KRT74 CCDC47 LIPH PERP TTC37 TGM3 EFNB1 PADI3 KANK2 HRAS DSC2 ATP7A KRT25 GAN HP_WHITE_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WHITE_EYEBROW TYRP1 SNAI2 SOX10 PAX3 KIT MITF MC1R EDN3 EDNRB OCA2 HP_GENERALIZED_HIRSUTISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_HIRSUTISM PPARG LZTFL1 NRAS HDAC8 KCNJ8 LMNB2 BBS1 ARL6 SPEN RAB3GAP1 GJB4 BSCL2 KMT2A RAB3GAP2 BBS12 GPR101 MMP23B ELMO2 NOTCH2 IFT27 MKS1 NPHP1 RAB18 GJA1 KCNAB2 WDPCP TBC1D20 UBE4B AIP SUCLA2 IDUA BBS5 BRD4 MBD5 BBS7 ARX CYP19A1 LMNA NIPBL NFIX MAPK1 PEPD ABCA5 IFT74 SKI INSR IRF6 ABCC9 GJB3 AKT1 TUBB BBS9 TWIST1 RERE PRKCZ HSPG2 SDCCAG8 PTEN CASZ1 PRDM16 SCAPER SMC3 SLC25A24 CEP290 SMC1A TWIST2 CFAP418 LUZP1 TTC8 GNE ARMC5 USP8 CTSC IFT172 MAPRE2 CDH23 BBS4 UBE2A BBS2 TRIM32 BBIP1 MKKS MC1R CEP19 KDSR GABRD PDPN SMO GNAS BBS10 RAD21 HP_SPARSE_BODY_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPARSE_BODY_HAIR GNRH1 JUP LAMC2 CHD7 ITGB6 EDA LMNA TACR3 ZBTB20 HS6ST1 AXIN2 KRT85 LPAR6 SNRPE KANK2 WNT10A LAMA3 KISS1 CYB5A CDH3 SOX18 EDARADD GNRHR COL17A1 AHSG DUSP6 PROKR2 PROK2 SPRY4 LSS APCDD1 LIPH FGF17 CST6 DSG4 EDAR CLDN1 FGF8 TP63 TRAF6 ITGB4 LAMB3 CTSC KISS1R WDR11 FGFR1 FMR1 KRT71 EDA2R HRURF RPL21 KLHL24 DSC3 TAC3 KDF1 CYP17A1 KRT74 NSMF KRT25 HP_PATCHY_ALOPECIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATCHY_ALOPECIA KRT83 KDM5C KRT81 ITGB4 COL17A1 NECTIN4 ZMPSTE24 DSG4 HR ECM1 KRT86 BLM LMNA TGM3 TP63 IL2RA PADI3 IKBKG PORCN HP_PILI_CANALICULI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PILI_CANALICULI TCHH SKIV2L TGM3 PADI3 TP63 GAN HP_GASTROINTESTINAL_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROINTESTINAL_HEMORRHAGE ITGA2B CASP10 SEC24C IL10RA ENPP1 BMPR1A GP1BA PRTN3 GP1BB MYD88 ENG MLH1 UBAC2 RBPJ COMT EOGT HLA-DPA1 F7 SLCO2A1 IL23R F5 SREBF1 HLA-B JMJD1C WAS RHBDF2 SMAD4 TET2 CDKN2B APC FAH FGB KRAS SDHC CDKN1B SLC25A13 MEFV DAXX LRP5 PKHD1 CCR1 KLRC4 CBL ATP7A STN1 PRKCSH VWF GFI1B MSH6 C4A TTC7A F11 ACVRL1 HPS1 PIK3CA TGFBR2 F8 FAS RUNX1 SRSF2 KIT FGG PMS2 SDHA ABCC6 STK11 ITGB3 TEK LMAN1 SEC63 MCFD2 CD109 MLH3 AGGF1 WFS1 EPCAM MSH2 JAK2 F9 PLOD1 CISD2 HIRA TLR4 SDHD TBX1 ARHGAP31 GREM1 TSC1 TSC2 F2 PDGFRA IL10 XYLT2 MPL IL12A DLL4 MPI WIPF1 SEMA4A UFD1 CTNNB1 PMS1 ATRX DZIP1L CBS RPS20 FGA LBR PUF60 TNFRSF1A STAT4 FAN1 CYP7B1 GP9 IL12A-AS1 PTPN22 XYLT1 SDHB NOTCH1 HPGD CDKN2C HLA-DPB1 ARVCF KIF23 MYC MEN1 CDKN1A DOCK6 IKZF1 GDF2 ERAP1 TREX1 MVK RREB1 TNXB CTLA4 ITGA2 PTEN CTC1 FCGR2C SERPINE1 F10 PLVAP HSD3B7 ALDOB ASXL1 HP_HEPATOMEGALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATOMEGALY TNFRSF13B SLC4A1 PPARG A2ML1 SLC25A15 PEX6 RAG1 RNU4ATAC GALK1 PIGA DIS3L2 CCDC47 STX1A ATP7B GAA ERCC8 UQCRB PEX1 DPM1 RNASEH2A RTL1 KRAS HADHA KLF1 TERT FOS ABHD5 DCDC2 HNF1A TNFRSF11A MEFV MRPS28 LIPE UCP2 NCF2 FAS SLC20A2 CAVIN1 DCLRE1C HFE EFL1 NHP2 AGPAT2 CTNS CBL GALNS PEX3 ERCC6 RPGRIP1L EWSR1 HBA1 MMUT AGA INSR AGL PEX10 SKIV2L MT-ND1 SEC63 ICOS PC IL2RG PEX12 SOS2 MFN2 SUMF1 MT-ND4 SOX10 MPV17 PLAGL1 ABCB4 LBR MT-TE SLC6A14 LMNA JAM3 GPC4 CPT1A SOS1 MCM4 CFTR ABCB11 HBB CYBB HMGCL MT-ND2 NGLY1 OTUD5 PHKG2 IL7R ABCA1 NRAS CDIN1 FAH GLRX5 GUSB ZAP70 ASL GBA PEX16 NDUFAF3 GCLC DOLK FBP1 MMAB PARN SUCLG1 NPC1 SAA1 MPL TMEM67 PEX5 SLC26A9 ACADVL RINT1 DKC1 MADD ALMS1 ZNF699 MEG3 GPC3 IDUA ATPAF2 FCGR2A ARSB CYP7B1 GLIS3 DPM2 PEPD SLC22A5 TNNT2 FOXRED1 HLA-DRB1 SLC7A7 COG4 IFIH1 TINF2 CASR ACADM HYMAI TGFB1 PCCA CR2 AKT2 GNMT GPD1 CTLA4 PIK3C2A KCNN4 NPC2 FBN1 PEX19 RRAS2 RFT1 LIPA NDUFB9 PEX2 XPR1 MYBPC3 COG5 SRSF2 GNS ABCD3 NDUFS8 ADA PRKCD NEK8 DCTN4 MRPL3 GCDH JAM2 EDNRA TALDO1 SLC39A4 XIAP CASP10 CPOX CEACAM6 HNF4A PTPN11 PPP1R21 SLC25A20 TMEM70 DHDDS CLCN7 SOCS1 COX5A MT-ND5 EIF2AK3 PNPLA2 NEU1 ALG2 NDUFAF4 HMGCS2 ERCC1 BSCL2 GSTM3 PHKA2 FUCA1 F5 PDGFB IL1RN RAG2 NDUFAF2 ANTXR1 NDUFV2 SLC25A1 NOTCH2 INPP5E PRF1 MPC1 PCK1 SMPD1 ATP6V1B2 SLC30A10 CDKN1C RRAS LIG4 DPAGT1 LYST MED13L MT-TK PSMB9 CCDC115 SLC37A4 CD27 NDUFAF5 APOE SRP54 TSFM BAAT APOA1 ARL13B OSTM1 DGUOK LPIN2 MIF PSMB8 DNAJC21 CYBA DDRGK1 ETFDH MOGS CC2D2A NPHP3 AKR1D1 NDUFS2 TCIRG1 AUH ABCC2 C2orf69 BAP1 KCNQ1 MPI CLCA4 GALM NCF1 PSAP SLC25A13 NDUFA1 TMEM165 NDUFS4 IL6 ETFB ALG8 MYORG KCNN3 SLC29A3 SLC11A1 NUBPL EXTL3 NDUFS3 SPTA1 CPT2 YARS2 HPGD PMM2 CTSK PEX14 USP18 TRPV6 XRCC4 MTTP SLC40A1 CTC1 PKHD1 ALG13 TRMU KCNH1 DLD CLDN1 FAM111B NDUFAF1 G6PC1 IL18BP RAB27A AMACR G6PC3 LTBP3 ERBB3 HMOX1 TRAPPC11 GDF1 ABCC8 VPS45 NLRP3 MYD88 RIT1 LCAT SPTB SLCO2A1 NAGS EARS2 COX14 MVK KIT PHKB RAF1 COA8 SC5D NDUFS7 ATP6AP1 C1QBP PIEZO1 LRP5 PDGFRB GUCY2D INPPL1 SBDS PEX26 CA2 OCLN TERC PRKCSH KCNQ1OT1 PTPRC HEXB ASS1 HGSNAT LYZ IDS ITCH MT-ND3 NDUFS1 ACOX1 EPB42 PTEN HBG1 STXBP2 GLB1 ATAD3A ARG1 DNASE1L3 GALE GPR35 TNFSF11 NLRP1 SDHD NAGLU VPS13A POLG2 CD19 ETFA JAK2 SNX10 HBG2 SCO1 TNFRSF13C FLNC PDGFRA ASXL1 STEAP3 RBCK1 ATP8B1 CAV1 NHLRC2 TCF4 ANK1 STX11 SLC34A2 IL2RB MARS1 VPS4A ATRX NAGA CBS POLG TNFRSF1B NOP10 WT1 MT-TW PIGS PLEKHM1 CHD7 PYGL TNFRSF1A TOGARAM1 CEACAM3 ADA2 TKT GALT IFT122 GNE SLC25A19 CYBC1 COG6 CD28 ALDOB AP3B1 ALG1 FASLG TRIM37 NDUFA6 SEMA4D PIGM NCF4 NDUFB10 IGF2 TTC37 SF3B1 PSMB4 NDUFV1 NPM1 TET2 ITK ALG9 HBA2 MAGT1 TKFC BOLA3 SCARB2 PEX13 CD40LG FGA SP110 COG7 ADAMTSL2 KIF20A SLC2A2 ASAH1 BTD MMAA SLC35C1 SERPINA1 PEX11B RIPK1 MET SH2D1A RASGRP1 AP3D1 RHBDF2 CALR RMRP UNC13D MRPS7 SLC17A5 WDR35 MT-ATP6 DAXX DYNC2LI1 POLD1 COX4I2 FDX2 MAN2B1 MT-TN XYLT1 NDUFB11 MYPN BMP2 PSMB10 CIDEC IFT172 NDUFA11 SCYL1 BTNL2 PCCB HSD3B7 FERMT3 AGGF1 IFT140 CD81 GATA2 CD55 KCNJ11 CTNNB1 GPIHBP1 APOC2 LACC1 MTX2 HSD17B4 TNNI3 NDUFAF8 MT-TL1 GNPTAB RHAG SLC2A1 NDUFS6 HAMP MRAS VPS33A RTEL1 HYOU1 MST1 LZTR1 PTRH2 WRAP53 TIMMDC1 USB1 YARS1 SGSH MT-ND6 SURF1 B2M SLC9A3 ATP6AP2 LARS1 HJV MT-TS1 CD96 RASA2 MT-TV TUFM MT-CYB DHFR GFM1 PSMG2 ERCC4 ACAT1 NDUFB3 RMND1 TMEM126B DLK1 TREX1 HP_ABNORMAL_INTESTINE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_INTESTINE_MORPHOLOGY WNT4 SH3KBP1 C1R COL1A1 MKKS NEUROG3 SATB1 ABCB1 ENG BUB1B CCDC47 FAT4 SUFU INAVA STX1A KMT2D MT-ND6 VPS51 GJB6 SMAD4 CDKN2B APC MIR17HG SDHC ERBB2 WNT2B MT-TK SLC6A8 ITGA6 MBTPS2 CBL GLI2 RPS6KA3 CEP41 ADAMTS3 PIK3CA HPS1 MYRF GATA1 CENPF FAS SPEN MT-TS2 PEX3 BAAT ZEB2 BMPR1A GJB2 PEX12 ELN BACH2 EYA1 MSH2 INPP5E SLC6A14 STAT3 RPS27 ACVRL1 PHOX2B ERCC4 TWNK CHST14 SLC46A1 TCTN1 SNAI2 CCDC39 PIGN SEMA3C ZIC2 DIS3L2 MKS1 CDON PRKCZ CHEK2 SEMA4A PARN SYP SHH SALL4 DLG3 CPOX ITGB2 ZNF699 HNRNPU RFWD3 GPC3 RARB SRP54 MED12 WAS AK2 BRCA1 POLE RPS29 DCC ITGB4 RPS10 LMOD1 GAS8 NCF1 TMEM237 BTK TGFB1 MT-TE EDN3 MYO1H PPOX MYOD1 PDGFRB HNRNPK PIK3C2A KCNN4 GATA6 CD79A KIT PEX19 ERAP1 LIPA MT-TW SETBP1 MSH6 HLA-DRB1 MDM2 BCL7B DNAH5 PTEN GREB1L ACTG2 RPS24 PTCH1 MYLK ACSL4 EDNRA ZNF711 CNKSR2 MYH11 MLH1 RRM2B MID2 CEACAM6 BICRA RERE BUB1 AHI1 COMT SOCS1 COL5A1 IL23R RSPH4A BRCA2 FCN3 IGLL1 TP53 PLG FAH CDC45 DMPK POLD1 DNAH9 JAK3 PGAP2 F5 CDKN1B SRCAP TRMT5 SOX10 MYO5B EIF4H TTC7A TTC12 PACS1 KIFBP ITCH USP27X NTHL1 NEK1 CFTR DOCK8 LIG4 BCL10 CCDC65 FGFR1 FOXE1 POLR1B FLNA BRD4 BUD23 SDHD MEFV CISD2 HIRA LPIN2 STAG2 DACT1 CLDN3 TBX1 SIX1 NPHP3 MITF RIPK1 BDNF ODC1 ACOX2 FANCB MUTYH IL10 HSPG2 SMO DHCR24 CCN2 DZIP1L ODAD3 FERMT1 TCF4 GDNF MLH3 PIGO DISP1 DNAAF3 IRF5 SATB2 USP9X SETD5 MT-TF TBCE RAPSN CLCN4 ATP7A POLR1C SREBF1 CDKN2C PERCC1 MTTP ISL1 UNC45A CDKN1A CAV1 PAX3 IL10RB CEP57 TMEM270 SLC6A19 PDPN CXCR4 RNF43 RFXAP IL2RA ASXL1 RAD51C UBR1 RPS28 SAR1B KEAP1 BUB3 MYD88 UBAC2 PIGL ODAD2 SLCO2A1 FBLN5 ARMC9 RPL18 PRSS1 DNMT3B STX3 HELLS BCOR PDGFRA CD3G SBDS PEX26 OPLAH ZNF41 EDNRB AKR1D1 FGFR3 RTTN C4A IDS ZNF81 TCOF1 SDHB TMEM216 SLX4 ABL1 SERPING1 TMPRSS6 TEK CBLIF CCNO DRC1 FTSJ1 PAK3 CEP104 TGIF1 ECE1 NCF2 PIEZO1 CLMP EFEMP2 METTL27 CEP120 SIX3 TLR4 ARID1B SLC5A1 SPEF2 GLA ATP8B1 FARSB PPP1R12A CDCA7 IL2RB UBE3B PEX5 IL21 HMBS MT-CO1 NOTCH3 RPS20 CARMIL2 WT1 TNFSF15 SLC39A4 SLC37A4 POLG TFAP2A LUZP1 B2M FLNB RPS26 MCM6 DNAJC21 RFC2 PIGW RSPH1 NCF4 AIRE SLC7A7 UBE2T TTC37 B3GLCT MTRFR RAD51 NME8 NOTCH2 USF3 RBM8A VANGL1 ODAD4 SEC23B PGM3 SRC AURKA ZPR1 PRTN3 MT-TL1 DNAH1 NODAL SI SERPINA1 SLC18A3 ARHGEF6 HCCS RASGRP1 CLIP2 TNPO3 COG8 FANCE RHBDF2 RMRP ABHD11 ERCC2 SPINK1 DOK7 ZBTB24 ELANE NSD1 LETM1 CTRC CASP10 COL14A1 FANCI MT-CO2 CCBE1 KDM6A RET DNAAF1 CREBBP IL12RB1 FREM1 NRTN EP300 HLA-B RPS19 SPAG1 CPLANE1 FANCL CCR6 EPCAM HMOX1 KATNIP KAT6A PLCG2 AP1S1 DNAL1 BRAF ALG6 GAS2L2 SKIV2L RPL11 MTOR TMEM67 MUSK RPGRIP1L STEEP1 MT-CO3 TP63 DNAAF6 IL12A WIPF1 ALG9 UFD1 PMS1 IL1RAPL1 DDX59 EXT1 ABCB11 IGHM SMC3 DICER1 PTPN12 WRAP53 CCDC40 AKT1 FGF8 SMC1A GTF2IRD2 GP1BB IL37 CLTRN SLC9A3 ATRX DYNC2H1 TCF3 TMEM231 POU2AF1 BLM ERBB3 VPS37D FASLG RELA PCSK1 OFD1 F13B PLA2G2A NPHP1 TCTN3 HABP2 SPIB FANCD2 PKP1 STK36 HMGA2 PEX6 GTF2I HDAC8 FCHO1 CFAP221 ADA2 HLA-DPA1 ARL6 MYCN TERT DDB1 MMP23B PTF1A PKHD1 CCR1 ZAP70 TNFAIP3 F13A1 IVNS1ABP SLC9A7 ANTXR2 EFL1 NHP2 TGFBR2 DNAJB13 PTPRJ ALG1 FRMPD4 EWSR1 PMS2 SDHA DMP1 INSR PEX10 CCND1 PTCHD1 DLC1 ARX ARL13B RFX6 ABCB4 ODAD1 TBL2 GPC4 RSPH3 CIITA AXIN2 ZNF423 CBY1 ARL3 KRAS KLLN CYBB PIK3CD STRA6 ALDH18A1 OTUD5 PEX16 SLC12A2 GCLC FLCN PORCN BBS1 SAA1 NOD2 SLC26A9 ACADVL DKC1 FOXF1 MADD FOXH1 DNAH11 FCGR2A STAT4 PALLD FGFRL1 CPLX1 LBR SPINT2 MNX1 TINF2 RPL26 COL3A1 TET2 DNAJC30 SALL1 CDKN2A TYMP COL5A2 ZFPM2 POLA1 DMD RPGR OCRL DCTN4 TYR RAD21 ENPP1 PSTPIP1 RECQL4 SLC10A2 XIAP SEC24C HFE HLA-DQB1 PET117 RPL27 POLR1D KIAA0586 TMEM138 JMJD1C DNAAF2 DYRK1A RAB39B TCTN2 STAT1 GSTM3 GDI1 PNLIP SLC29A3 WBP11 NIPBL ALG13 DNAAF4 PRF1 MECP2 RUNX1 FOXP3 NSUN2 FANCA SHPK STK11 RPL15 DHCR7 SETD2 UBE4B ABCD1 STIL CCDC22 CEP290 DNAI1 MINPP1 ITGA8 NEK10 F12 FGFR2 PIBF1 PDGFRL CYBA PLA2G4A PTCH2 IQSEC2 LRP2 B9D1 SMAD7 FBN2 MPI CLCA4 MASP2 LRBA RPL31 PEX2 ASCL1 MMP21 UPF3B RBM10 FAN1 ALG8 LEMD3 SLC11A1 FANCF GNAS CSPP1 HPGD WAC PEX14 MT-TQ PRSS2 XRCC4 ARVCF MYC TDGF1 CTC1 AGA COX7B ACTA2 DLL1 RREB1 NAA10 WASHC5 AMACR CTLA4 RPS17 CDK8 LRRC56 PALB2 EXT2 TENT5A RPS15A LONP1 MT-TS1 CCNQ GTF2IRD1 KIF7 SPINK5 PEX1 NUP88 RPL35 KLRC4 HYLS1 TERC NSD2 PIGV RPL35A L1CAM DHODH SRSF2 STXBP2 NDUFB11 AGTR2 CCDC28B RAC2 GPR35 TSR2 APC2 PIGY RFX5 NRAS SYK RFXANK MT-TH CHD7 GREM1 XRCC2 MIF CYBC1 STX11 NLRC4 FGF20 CTNNB1 RPL5 AMER1 CYP7B1 NOP10 LRRC8A TJP2 ARPC1B IL12A-AS1 ZMPSTE24 AP1B1 CEACAM3 DSE LCT JAK2 COG6 RAD54B PRKAR1A HLA-DPB1 FANCC SEMA4D PIK3R1 NPM1 SLC2A2 GDF2 IRGM SLC51B DNAAF11 CFAP298 IFT43 MT-ND4 GAS1 HYDIN PLVAP PGAP3 MAD2L2 IL10RA KDELR2 CTBP1 PEX11B SEMA3E IL6 UNC13D SH2B1 CD79B AAGAB MCIDAS RABL3 GUCY2C COX4I2 ADAM17 TLR2 ALG3 LAT2 SEMA3D KCNAB2 SON CFAP300 JAK1 STAT5B ASXL3 HSD3B7 FOXJ1 SMARCAL1 DGAT1 SIN3A MT-ND1 MCC MLXIPL KITLG CAVIN1 CHRM3 RPS7 MSH3 ZMYND10 WFS1 MT-ND5 TSPAN7 CD55 RTEL1 LIMK1 GPIHBP1 SKI SF3B4 FRAS1 BAZ1B DNAI2 BLNK MMEL1 BAX KDM3B CASZ1 HYOU1 RSPH9 PRDM16 MST1 LTBP4 PEX13 CCDC103 USB1 FLI1 ALG12 PTPN22 PRKCD HLA-DQA1 FKBP6 DNAAF5 MEN1 CLDN4 LMNA PTRH2 TRIP13 FANCG HCFC1 MVK CFC1 CARD8 BRIP1 MAP3K7 GABRD PKD1 FANCM TNFRSF1A CC2D2A HP_PROTEIN_LOSING_ENTEROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROTEIN_LOSING_ENTEROPATHY PET117 CARD8 ALG1 PKHD1 PTEN ALG8 MPI PLVAP PIK3C2A COG8 ALG6 DZIP1L BMPR1A ADAMTS3 CCBE1 DGAT1 HP_ABNORMALITY_OF_THE_SMALL_INTESTINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SMALL_INTESTINE WNT4 SAR1B BUB3 BUB1B CCDC47 MYCN PRSS1 STX3 CDKN2B MIR17HG SIX3 FANCB WNT2B PTF1A PKHD1 SBDS TNFAIP3 ZNF41 FOXF1 NSD2 IVNS1ABP GLI2 RTTN SPINK5 SLC9A7 ANTXR2 ADAMTS3 EFL1 ZNF81 FGFR1 CENPF ALG1 SLX4 FRMPD4 BAAT SKIV2L AGTR2 PTCHD1 GPR35 ARX FTSJ1 PAK3 TGIF1 RFX5 RFX6 CLMP SYK EFEMP2 LIPA GPC4 STAT3 RFWD3 ARID1B RFXANK FGF8 CIITA ERCC4 CHST14 CHD7 STRA6 ATP8B1 PIGN XRCC2 PPP1R12A ZIC2 TCF4 DIS3L2 SALL1 CDON NLRC4 SYP PORCN DLG3 CYP7B1 CPOX TNFSF15 FOXH1 ZNF699 GPC3 FCGR2A TJP2 RARB SRP54 FGFRL1 CFTR DSE MPI SHH LCT CPLX1 MCM6 DNAJC21 FANCC TGFB1 SEMA4D NODAL SLC7A7 UBE2T TTC37 PIK3C2A SRCAP RAD51 TYMP DMD RBM8A PTEN MYO5B SLC51B TTC7A ACTG2 GAS1 PLVAP ACSL4 ZNF711 MAD2L2 CNKSR2 SLC10A2 MYH11 RRM2B MID2 BICRA HLA-DQB1 PET117 RERE CTBP1 IL12A AMACR BUB1 SOCS1 SEMA3E ARHGEF6 MYO1H BRCA2 TNPO3 COG8 DYRK1A FANCE PLG RAB39B CDC45 FANCF STAT1 CDKN1B SPINK1 GDI1 LETM1 PNLIP PEX12 CTRC WBP11 RPS6KA3 POLG COX4I2 ALG13 FANCI ADAM17 CCBE1 ALG3 MECP2 FOXP3 USP27X IL12RB1 STAT5B EP300 FANCA SHPK HSD3B7 FBLN5 RAD21 DGAT1 MLXIPL FANCL TSPAN7 STAG2 MED12 ALG6 PLA2G4A FRAS1 EPCAM IQSEC2 AKR1D1 ODC1 ACOX2 STEEP1 FLNA FBN2 MMEL1 GATA1 ALG9 ELN DZIP1L KDM3B IL1RAPL1 MTTP CEP57 ABCB11 LRBA MST1 UPF3B PTCH1 LBR RBM10 IRF5 ALG8 SATB2 FLI1 USP9X BMPR1A CLCN4 WAC CDKN2C PERCC1 HLA-DQA1 PRSS2 TDGF1 POU2AF1 MEN1 UNC45A CDKN1A PTRH2 TRIP13 FANCG RELA PCSK1 HCFC1 DLL1 CARD8 DISP1 BRCA1 SPIB BRIP1 FANCD2 CXCR4 FANCM PALB2 SUFU RFXAP IL2RA RAD51C HP_ABNORMAL_DUODENUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DUODENUM_MORPHOLOGY MYH11 STRA6 RERE BUB3 PIGN XRCC2 FANCB BUB1B ZIC2 BUB1 SALL1 NODAL CDON FBN2 SEMA3E GATA1 MYCN BRCA2 DYRK1A FANCE KDM3B PORCN PLG CDKN2B CDC45 CEP57 SIX3 FANCF FGFR1 CDKN1B FOXF1 FOXH1 RFWD3 PTCH1 RBM10 WBP11 RARB FLI1 GLI2 RTTN FANCI ADAM17 SHH CENPF CDKN2C FANCC SLX4 TDGF1 EP300 FANCA MEN1 CDKN1A UBE2T TRIP13 FANCG RAD21 FANCL RAD51 DLL1 TGIF1 CARD8 RFX6 DISP1 BRCA1 SYK BRIP1 FANCD2 ARID1B STAG2 TTC7A ACTG2 FGF8 GAS1 FANCM ERCC4 PALB2 SUFU PLA2G4A CHST14 CHD7 MAD2L2 RAD51C HP_DUODENAL_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUODENAL_ATRESIA CENPF RERE BUB3 PIGN BUB1B ZIC2 BUB1 NODAL SALL1 TDGF1 CDON FBN2 SEMA3E MYCN TRIP13 DYRK1A KDM3B PORCN CEP57 SIX3 FANCF FANCB FGFR1 DLL1 TGIF1 RFX6 FOXH1 DISP1 RFWD3 PTCH1 FOXF1 WBP11 STAG2 FLI1 GLI2 RTTN FGF8 GAS1 SUFU SHH CHD7 HP_HEMATEMESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMATEMESIS ACVRL1 CDKN1B ENG GP1BA CDKN2C GP1BB DAXX MEN1 CDKN1A WAS GP9 WIPF1 ATRX CDKN2B HP_MELENA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MELENA ITGA2B ACVRL1 APC CDKN1B ITGB3 ENG GP1BA CDKN2C DAXX GP1BB KIF23 ITGA2 PTEN MEN1 CDKN1A SREBF1 WAS ATRX CD109 BMPR1A CDKN2B HP_ABNORMAL_LARGE_INTESTINE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LARGE_INTESTINE_MORPHOLOGY SH3KBP1 RPS28 SALL4 RNF43 COL1A1 KEAP1 MKKS MLH1 RPS15A GTF2I LONP1 BMPR1A BUB3 FCHO1 ABCB1 BUB1B ADA2 INAVA CCNQ GTF2IRD1 PTEN KIF7 RPL18 CTLA4 SMAD4 APC KRAS DDB1 ZAP70 RPL35 EPCAM OPLAH TNFAIP3 FOXP3 AKT1 MUTYH RPL35A F13A1 IVNS1ABP FGFR3 PIGV NCF2 FAS RPS6KA3 PIK3CA HPS1 MSH2 GATA1 TGFBR2 PTPRJ TCOF1 STXBP2 PMS2 SDHA INSR NDUFB11 SKIV2L CCND1 RAC2 GPR35 ENG TSR2 DLC1 MLH3 BACH2 MSH6 SOX10 GATA6 RFX5 NRAS SYK METTL27 EP300 TBL2 RPS27 RECQL4 RFXANK CIITA AXIN2 JAK3 KLLN PIK3CD GREM1 SDHC PMS1 OTUD5 TP53 PDGFRA TCF4 SALL1 CYBC1 CYBB STX11 CHEK2 NLRC4 ACTG2 IL21 FLCN SEMA4A RPS20 RPL5 NOD2 CARMIL2 ACADVL ITGB2 PIGN SLC37A4 FCGR2A PALLD WAS ARPC1B TFAP2A BRCA1 POLE CFTR ZMPSTE24 RPS29 DCC SPINT2 RPS10 LMOD1 FLNB RPS26 NCF1 COG6 RAD54B PRKAR1A RFC2 RPL26 TGFB1 SEMA4D DNAJC30 TTC37 KIT CDKN2A COL5A2 HLA-DRB1 IRGM DACT1 MDM2 USF3 BCL7B POLA1 VANGL1 RPS24 MYLK PSTPIP1 MYH11 XIAP SRC IL10RA AURKA RPL27 POLR1D BRCA2 BUB1 HCCS RASGRP1 CLIP2 FCN3 IL6 RHBDF2 BCOR ABHD11 UNC13D DMPK POLD1 UBR1 AAGAB ELANE ELN CASP10 RABL3 GUCY2C COL14A1 NIPBL CYBA EIF4H TLR2 CCBE1 PRF1 LAT2 STX1A NTHL1 NSUN2 JAK1 FREM1 STK11 DOCK8 RPL15 BCL10 FOXE1 RPS19 POLR1B COL5A1 MCC MLXIPL SLC9A3 RPS7 MSH3 BUD23 MINPP1 SDHD CTNNB1 NCF4 MEFV STAT1 RTEL1 PDGFRL LIMK1 GPIHBP1 CLDN3 RET PLCG2 BRAF BAZ1B RPL11 RIPK1 SDHB SMAD7 BAX WIPF1 LIG4 SEC23B CEP57 MASP2 FERMT1 LRBA RPL31 MST1 DICER1 PTPN12 MNX1 LTBP4 FAN1 GTF2IRD2 MED12 IL37 PRKCD POLR1C FKBP6 CLDN4 LMNA BLM ERBB3 VPS37D TRIP13 FASLG RAD51C F13B COX7B NAA10 CARD8 TTC7A IL10RB PLA2G2A TMEM270 TCTN3 HABP2 RPS17 CDK8 HLA-B MAP3K7 PKD1 PALB2 RFXAP HP_AGANGLIONIC_MEGACOLON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGANGLIONIC_MEGACOLON SEC24C MKKS KIAA0586 KIT AHI1 COMT TMEM138 PIGL EDNRB ARMC9 INPP5E JMJD1C BRCA2 ARL6 GJB6 DDX59 TMEM237 ERBB3 FANCE RMRP BCOR SH2B1 TCTN2 ERBB2 PGAP2 MBTPS2 SLC6A8 NSD1 RET HYLS1 SNAI2 PIGV SOX10 GDNF FANCI CEP41 L1CAM SEMA3D KIFBP TMEM216 SLX4 MITF NRTN FANCA ZEB2 GJB2 CCDC28B DHCR7 SETD2 APC2 ARL13B CPLANE1 FANCL KITLG ABCD1 PAX3 PIGY CEP104 CEP290 ECE1 KATNIP CEP120 HIRA PIBF1 RFWD3 EDN3 PHOX2B ZNF423 CBY1 ARL3 ERCC4 KRAS SF3B4 TBX1 TCTN1 TMEM67 RPGRIP1L TCF4 BDNF PIGN XRCC2 FANCB SEMA3C B9D1 MKS1 PIGO GATA1 SMO CREBBP UFD1 BBS1 SALL4 ARX FOXF1 ASCL1 GP1BB FANCF SUFU CSPP1 ATP7A ATRX SREBF1 FANCC ARVCF PIGW TMEM231 ACTG2 MYO1H UBE2T FANCG SETBP1 RAD51 RREB1 NAA10 NPHP1 EP300 BRCA1 BRIP1 FANCD2 TYR FANCM PALB2 PGAP3 MAD2L2 CC2D2A RAD51C HP_INTERMITTENT_DIARRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERMITTENT_DIARRHEA TYMP ACSF3 COG4 G6PC1 CDKN2A DAXX BRCA2 SMAD4 KRAS PALLD POLG GATA6 RABL3 TP53 BRCA1 PALB2 ATRX HP_CHRONIC_RHINITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_RHINITIS SPEF2 DNAI2 CCDC39 CFAP221 DNAH1 CCDC103 ODAD2 RSPH4A DNAAF6 DNAAF2 ODAD3 DNAH9 RSPH9 TNFSF11 MCIDAS DNAH11 DNAAF3 SLC29A3 CCDC40 GAS8 ALG12 DNAAF4 ODAD4 TTC12 DNAL1 DNAAF1 DNAJB13 TCIRG1 CFAP300 RSPH1 DNAAF5 CCNO DRC1 CCDC65 RAG1 FOXJ1 OFD1 SPAG1 RAG2 ZMYND10 DNAI1 NME8 SNX10 NEK10 ODAD1 DNAH5 RPGR RSPH3 CLCN7 DNAAF11 CFAP298 LRRC56 HYDIN STK36 GAS2L2 HP_EXAGGERATED_CUPID_S_BOW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXAGGERATED_CUPID_S_BOW SLC1A3 MEG3 ZMIZ1 CACNA1A RTL1 ATP1A2 TBCK MED27 B3GLCT HNRNPK SLC35A2 ATP1A3 GPC4 EXOC2 PIGT NXN HNRNPU ROR2 RALA ZNF462 DLK1 MED25 SMARCA2 HP_LARGE_FLESHY_EARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_FLESHY_EARS COLEC10 NARS1 ALG9 PIGN ATP6V1B2 TBL1XR1 TAPT1 KCNH1 KCNN3 TRAPPC9 MASP1 COLEC11 HP_FOCAL_CLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_CLONIC_SEIZURE GABRG2 SCN1A KCNQ3 STXBP1 KCNQ2 GABRA1 SLC12A5 GRIN2A SCN2A LGI1 SCN8A KANSL1 SRPX2 SCN1B DMXL2 SMARCAL1 SCN9A PRRT2 FRRS1L MICAL1 TBC1D24 RELN PCDH19 HP_EXAGGERATED_STARTLE_RESPONSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXAGGERATED_STARTLE_RESPONSE KLC2 PLAA HEXA GLRB TRAK1 FKTN GM2A GPHN FLRT1 MTHFS SOD1 ASNS DDC HEXB ARHGEF9 GLRA1 PURA GLB1 SLC6A9 SLC6A5 HP_PAROXYSMAL_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAROXYSMAL_DYSTONIA PNKD CHRNA2 SEPSECS PRRT2 DEPDC5 DLAT CHRNA4 TSEN54 CRH TSEN15 KCNT1 TBC1D24 TSEN34 FARS2 CABP4 TSEN2 SLC2A1 CHRNB2 HP_ABNORMALITY_OF_NEURONAL_MIGRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_NEURONAL_MIGRATION ATR LARGE1 SEPSECS ANKLE2 LMNB1 FMR1 PEX6 KIAA0586 EML1 SIX3 ZNHIT3 PDHB SRPX2 ADGRG1 NDE1 FGFR1 PDHA1 RAB3GAP1 NSUN2 BMPER RTL1 TUBGCP6 PEX13 GRIK2 KANSL1 TAF13 AIMP1 SPOP PEX10 TCTN3 PEX3 C2CD3 CRB2 WASHC4 CTNNA2 SARS1 GPX4 HIVEP2 PHC1 SLC20A2 CENPJ CEP41 ZIC2 KAT5 METTL5 IER3IP1 GRM7 KDM5B PYCR2 DAG1 NPRL3 ARF1 ANKRD11 UBE4A QARS1 RAB18 RPGRIP1L MAP1B ZEB2 UFSP2 NDST1 TUBG1 CDH15 PEX12 ASPM IFT140 VLDLR ARL13B AIPL1 TMEM237 INPP5E KCNA1 CSGALNACT1 CSNK2B PIGP KATNB1 ZMYND11 MCPH1 TRAPPC9 TUBB3 FIG4 PTEN TRPM3 NEDD4L ZNF423 CBY1 ARL3 PAX6 TCTN1 STXBP1 WDR4 AKT1 TRAIP CRBN ACTB CDKL5 PEX16 KIF2A ERMARD NSDHL TMTC3 CASK MAN1B1 FAT4 TDGF1 TRAPPC14 SHH NFIX SMO IQCB1 PLP1 VAC14 MEG3 RDH12 MED12 MAPK8IP3 MTOR RELN FKRP POMGNT2 SIK1 MLYCD OSGEP ATP6V0A2 KIF14 CUX1 ATXN2 CLP1 FLNA FDFT1 CEP120 SMARCC2 TMEM67 TSEN2 HNRNPK TP53RK B3GALNT2 DISP1 FH PEX19 CDH2 XPR1 ATP6V1A EIF2AK2 MPDZ FGF8 DISC1 CDK5RAP2 HIC1 DLL1 LCA5 WDR62 JAM2 FRRS1L B4GAT1 DYNC1I2 CEP85L ISCA1 TBL1XR1 DMXL2 ARID2 SNAP29 NMNAT1 TUBB2B AHI1 MBD5 TRIM8 PIGB TMEM138 GMNN DONSON PSAT1 GPHN DCHS1 MACF1 CEP152 CDC40 ACTG1 DYRK1A PGAP1 DYNC1H1 TCTN2 PDGFB CEP290 EPB41L1 KIAA1109 DEAF1 POMK BRSK2 EOMES ARID1B MAGEL2 ASCC1 ASNS COL4A2 LINS1 AKT3 CSF1R CAMK2B COL4A1 PNKP KIFBP NUP107 PTCH1 CRPPA NEK1 COPB2 CCND2 DHCR7 TAOK1 TULP1 KIRREL3 SNRPN STIL HNMT CCDC22 ARFGEF2 KIF5C ASH1L SYNGAP1 PI4KA RAB11A DEPDC5 DHX16 PIBF1 CEP63 GLI2 CRADD ATN1 MLH1 DCX ETFDH TBC1D24 CC2D2A KIF7 POMT1 EEF1A2 SLC12A2 B9D1 FOXH1 MED27 KIF1A MKS1 PHGDH DHCR24 CRX GRIN2B PLAA KAT6B CPLANE1 LAMA2 XRCC4 CAMTA1 SLC45A1 NUP133 PEX2 FKTN PIK3CA ETFB GRIN1 MYORG USP9X POMGNT1 NDN NARS1 ATP6V1E1 CPT2 SUFU ERCC1 CSPP1 AHDC1 PIK3R2 TBC1D20 PEX14 ZNF292 TSEN15 USP18 GMPPB NCDN KLHL15 INTS8 KIAA0753 NCAPD3 POMT2 ARMC9 LAMA1 MECP2 CSNK2A1 RPS6KA3 WASHC5 RXYLT1 TMX2 CC2D1A MN1 TSEN34 SOX11 CAMK2A SMPD4 ZMIZ1 KIF11 WDR73 GAS1 ARHGAP31 VIPAS39 LAMB1 USP45 TGIF1 PEX1 C12orf4 SLC25A24 SPEN RAB3GAP2 PDGFRB PEX26 GDF6 OCLN HYLS1 PIGQ CLTC KCNQ5 RTTN NBEA APC2 IBA57 CDK6 TMEM216 MED25 SCN1B TPRKB SPATA7 RAC1 LRAT ZC3H14 IMPDH1 CDK5 CEP104 DPF2 ETFA TECR FTO MED23 SHMT2 CIT RECQL4 MYT1L ATP6V1B2 IQSEC1 SMARCB1 LMAN2L PEX11B WDR26 CLIP1 LMNB2 GNAO1 PPP1R12A FOXG1 METTL23 VPS4A PEX5 PRSS12 EPG5 SON SASS6 TUBGCP4 NODAL TUBA8 ST3GAL3 DOCK6 YWHAE CRB1 TUBB PDE6D WT1 GPSM2 COL18A1 SUZ12 ADAMTS3 DCPS SRD5A3 SETD1B KAT8 OCA2 COG6 LONP1 LAGE3 CDON FAM149B1 TUBB2A RD3 TTC5 FBXO31 SMARCD1 GFM2 RSRC1 NPRL2 SCN3A ARX TBR1 ADD3 SLC25A22 EZR ARID1A SLC5A6 PCYT1A SOX4 VPS33B DHX37 KCNJ13 PAFAH1B1 FUZ SCN2A EDC3 CHAMP1 GNB1 MFSD2A NEUROD2 SMARCE1 PMS2 COL3A1 FMN2 THOC2 CCBE1 CEP135 NBN CIC STS ALKBH8 CACNG2 FGFR3 TUBGCP2 SMARCA4 TNIK KATNIP ASXL1 ALG11 OFD1 TRRAP SF3B4 FRAS1 TMEM107 ODC1 HSD17B4 ZNF335 PIGC POLR3A KNL1 SLC25A19 RNU4ATAC CENPE MBOAT7 CPLX1 TUBA1A EXOC7 LAMC3 ZSWIM6 RALGAPA1 SET FLI1 ALG12 RPE65 PLK4 TCF4 BICD2 PPIL1 MED12L VPS35L RPGRIP1 TMEM231 DOCK8 PRKDC TUFM PPP3CA CTU2 TSEN54 NPHP1 TUSC3 RMND1 CCDC88A DLK1 NEMF GUCY2D CUL4B HP_ABNORMALITY_OF_THE_AUTONOMIC_NERVOUS_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_AUTONOMIC_NERVOUS_SYSTEM SCN5A DLL1 MAPT COL1A1 MKKS NTRK1 PIGL PTCH1 ARMC9 AHI1 ARL6 TTR GJB6 ZIC2 DDX59 TMEM237 ERBB2 MBTPS2 SLC6A8 CYP11B2 SPG11 RET TDGF1 HYLS1 FGF8 EDNRB SNAI2 ADH1C PIGV LEP SCN11A VPS11 HEXB GDNF LEPR GCK CEP41 TXN2 L1CAM GLA CACNA1C EIF4G1 TMEM216 SLX4 KCNQ1 DISP1 SIX3 ZEB2 SNTA1 CHRNA3 GJB2 CCDC28B MECP2 SPTLC2 APC2 ARL13B FGFR1 PODXL LMNB1 VPS13A PAX3 SOX10 PIGY GAS1 CEP104 KCNH2 ECE1 GBA TBX5 FOXH1 INPP5E CEP120 TUBB3 RFWD3 COQ2 EDN3 GIGYF2 PHOX2B ZNF423 CBY1 ARL3 ERCC4 SCN9A WDR45 KRAS LIFR TCTN1 GLI2 NODAL DBH PIGN XRCC2 STAG2 SEMA3C CALM2 ATP1A2 SNCA GABBR2 BBS1 SALL4 SHH CHCHD2 FOXF1 VPS13C TNFSF15 ATL3 HTRA2 SCN3A POLR3A SIM1 KCNE1 B2M GLUD2 CALM1 CYB561 DNAJC13 TBP ATP7A FANCC ELP1 PIGW TGIF1 ACTG2 AAAS MYO1H UBE2T PPOX GSN ATP1A3 MKS1 SETBP1 RAD51 CCT5 PARK7 COL5A2 RFC1 CDON CAV3 TYR PGAP3 MAD2L2 SEC24C IL12A KIAA0586 KIT ARSA COMT TMEM138 SMC1A FMR1 JMJD1C BRCA2 SNCAIP TNPO3 ERBB3 FANCE RMRP BCOR SH2B1 FBXO7 TCTN2 ATXN8OS PGAP2 SLC6A2 NSD1 RELN DEPDC5 FANCI SEMA3D KIFBP AKAP9 ATXN3 MITF IL12RB1 KCNJ5 NRTN FANCA PINK1 PRKN DHCR7 PRNP SETD2 KCNE2 RAD21 COL5A1 CPLANE1 FANCL KITLG ABCD1 WFS1 CEP290 KATNIP CISD2 HIRA PIBF1 PSAP TRDN SLC18A2 PLA2G6 LRRK2 UCHL1 SF3B4 KIF1B TBX1 TMEM67 RPGRIP1L TCF4 BDNF SCN4B FANCB TSPYL1 B9D1 NR4A2 PIGO MMEL1 ATL1 GATA1 SMO CREBBP UFD1 CALM3 DNAJC6 ATXN2 GMPPA ARX ASCL1 SCN10A ANK2 IRF5 GP1BB VPS35 ACOX1 FANCF SLC1A3 SUFU CSPP1 CACNA1A ATRX SREBF1 BRAT1 ARVCF GBE1 TMEM231 POU2AF1 NOS1AP FANCG LGI1 RREB1 NAA10 TWNK NPHP1 EP300 BRCA1 SPTLC1 SPIB BRIP1 FANCD2 CAV1 FANCM PALB2 SYNJ1 CC2D2A RAD51C HP_TETRAPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TETRAPARESIS NEK1 SARDH FA2H GAD1 TENT5A HSD17B10 PRDM8 LMNB1 FUS KDELR2 RERE PLP1 L2HGDH PRUNE1 PAFAH1B1 EIF2S3 PSAT1 EARS2 PRPS1 ADAR EXOSC8 CHCHD10 BSCL2 COA8 DYM SDHAF1 SLC18A2 GSS LRP4 TRAPPC4 LIPT1 LMX1B SQSTM1 MBTPS2 GJA1 VCP MRM2 NAXE NUP62 PSEN1 TARDBP TNFRSF11A TACO1 POLR3K NEXMIF ALS2 GM2A SMC1A CARS2 LYRM7 REEP1 WDR62 ARFGEF2 PLA2G6 NDUFS3 AASS LIPT2 FAR1 PDHX AUH ATP1A2 GALC UGP2 PHACTR1 SLC35A2 SLC19A3 MFSD2A PNP STAMBP C9orf72 STXBP1 TBK1 SDHB KCNQ2 SOD1 SOX4 COL4A1 KCNJ6 ABCD1 AGTPBP1 SLC1A3 IFIH1 AFF3 CACNA1A ARX GBE1 SDHA SLC25A10 UCHL1 PPOX MOCS1 ATP1A3 MT-ATP6 PSAP FBLN1 ERLIN2 HINT1 LIMS2 ATP6V1A ALG3 TBCE NMNAT1 APOE SDHD HP_POOR_MOTOR_COORDINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_MOTOR_COORDINATION GABRG2 RAD51 POMT2 CLN5 GCDH SCN2A SCN9A HERC2 ATP7B RDH11 DCC LARGE1 NTN1 GNB5 SCN1B NDN MTRFR MFN2 SCN1A BSCL2 DMPK PRNP SLC30A10 PDHX FMR1 PWRN1 MEG3 MMACHC CAMTA1 ALMS1 HCN1 BMPR1B DARS2 KCNQ2 RNU12 SLC2A3 DLK1 PPP2R2B RTL1 MKRN3 PCDH19 PWAR1 POMT1 VCP STX1B DNAL4 ADGRV1 C19orf12 FKRP FXN RAI1 THG1L PMPCA STXBP1 GABRA1 FOXP2 ZEB2 NPAP1 HTT GMPPB GABRD VPS13A SNRPN MAGEL2 SNORD116-1 PIEZO2 CXCR4 SNORD115-1 AASS DCX HP_ENLARGED_CISTERNA_MAGNA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_CISTERNA_MAGNA MAN2B1 PMM2 PLPBP FLNB AFF3 CNOT3 PMPCA KIAA0586 PIGU PACS2 COG1 TIMMDC1 RAC1 PITX1 ALDH18A1 BRF1 SLC35A2 VPS51 SLC13A5 SETD2 APC2 CDH2 NSD1 OPHN1 ACADVL EDEM3 NDUFC2 FAR1 ALDH7A1 CSPP1 KATNB1 SH3PXD2B POMT1 SH2B1 POGZ FOXC1 OFD1 POLR2A SLC5A6 HP_GRAY_MATTER_HETEROTOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GRAY_MATTER_HETEROTOPIA STIL ZMIZ1 FMR1 EML1 TBC1D24 TUBB2B LAMB1 PDHB PAFAH1B1 DCHS1 PEX1 SLC25A24 SPEN KANSL1 TAF13 COPB2 B4GAT1 ANKLE2 KIAA1109 C2CD3 MFSD2A CRB2 COL4A2 PMS2 CSF1R RTTN POMT1 PHC1 CENPJ APC2 METTL5 FKTN CEP135 PYCR2 ARF1 ANKRD11 MAP1B ZEB2 TUBG1 DHCR7 FGFR3 TUBGCP2 CRPPA AKT3 ARFGEF2 ASXL1 CSGALNACT1 KATNB1 DHX16 MCPH1 FKRP CEP63 ALG11 CDK5RAP2 OFD1 NEDD4L WDR62 HYLS1 MLH1 CDK6 DCX TMEM107 AKT1 PPP1R12A CEP152 KIF2A ERMARD KNL1 TMTC3 EPG5 SASS6 MAN1B1 RNU4ATAC FAT4 KAT6B PTEN TRAPPC14 POMK CPLX1 TUBA1A ASPM GPSM2 PIK3CA ZSWIM6 RALGAPA1 MED12 FLNA HNRNPK KAT8 NDE1 VPS35L ZNF292 USP18 GMPPB CIT INTS8 NCAPD3 CDH2 POMGNT1 POMT2 ARMC9 LAMA1 MPDZ KIF14 ADD3 CEP85L HP_GLOBAL_BRAIN_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLOBAL_BRAIN_ATROPHY PANK2 GABRG2 PRNP FUS OTUD5 SATB1 PSAP SCN2A ST3GAL5 ALG13 SON SCN1B TIMM8A ACTL6B CHCHD10 SMG9 TBCK UNC80 WDR81 C9orf72 NDUFS2 TXN2 TBK1 PIGT AIMP1 PUF60 SCN1A RAB3GAP2 ABCD1 NDUFAF3 TANGO2 PCDH19 SQSTM1 ARX VCP STXBP1 GABRA1 DPAGT1 SCN9A NDUFB8 CYB5A SCO2 TARDBP SURF1 L2HGDH SPATA5 COPB1 ALG9 GFM1 PNPO RNF113A CYP27A1 PLA2G6 CYB5R3 TDP1 PYCR2 HP_FAIR_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FAIR_HAIR SNRPN LPAR6 KANSL1 TP63 ABCA2 SLC17A5 PDE4D UBR1 AP3B1 PIGN BLOC1S5 RMRP PAH UROC1 UBE3A PRKAR1A MOGS HP_ALOPECIA_UNIVERSALIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALOPECIA_UNIVERSALIS AHSG TRPV3 AIRE HR PERP DSP VDR PKP1 IL2RA LMNA HP_FRONTAL_BALDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRONTAL_BALDING ABCD1 SLC2A1 WNT4 DMPK NEXMIF SYNGAP1 NR3C1 ALMS1 CHD2 AP2M1 PQBP1 SLC6A1 SCN1A CNBP HP_ALOPECIA_OF_SCALP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALOPECIA_OF_SCALP SLC39A4 LAMC2 TP63 COL3A1 UROS PLEC KRT14 UROD CLDN1 GJB2 SLC27A4 ITGB4 LAMB3 MPLKIP GTF2E2 LAMA3 EBP TARS1 MBTPS2 GATA1 TTC7A ERCC3 RHOA KLHL24 COL17A1 RNF113A GTF2H5 ERCC2 SLC29A3 ECM1 HP_RED_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RED_HAIR TYRP1 PDE4D MC1R PRKAR1A POMC ZNF469 OCA2 PCSK1 HP_ABSENT_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_HAIR FRAS1 CWC27 SMARCA2 NR5A1 ODC1 UBE3B POLR1D TWIST2 ANAPC1 ZBTB20 GNRH1 HOXC13 TBX3 AXIN2 KRT85 RECQL4 APOE SOX18 RIPK4 ZMPSTE24 CDH3 NECTIN4 JUP UROS MBTPS2 LMNA EDA CYP17A1 BRAF KRAS POLR1C TCOF1 PHGDH SNRPE LRP1 EDARADD GJB2 GJB6 TP63 POLR1B MAP2K2 TTC7A PPP2R3C DSP EPS8L3 HR AR ALX1 HP_BRITTLE_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRITTLE_HAIR MPLKIP KRT81 SKIV2L ERCC3 KRT86 ST14 BCS1L RPS23 ASL KRAS CARS1 SEC23A TTC37 KRT85 CDSN GJA1 TARS1 GTF2E2 ERCC2 KRT83 OFD1 SCUBE3 MAP2K1 DSG4 SLC25A24 LPAR6 PQBP1 SPINK5 CDH3 EDA ZMPSTE24 ATP6V0A2 KRT74 BRAF ATAD3A TRNT1 NECTIN1 GJB6 PORCN LIPH KRT71 GTF2H5 RNF113A CBS MAP2K2 KRT25 HP_MUTISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUTISM PLEC PSEN1 HNRNPA1 PRDM8 FUS TCF4 TBP CDKL5 GRIN2A HCCS SLC9A6 EHMT1 CHCHD10 SETBP1 SQSTM1 ATP1A3 MAPT PIK3C2A GABBR2 AMER1 STXBP1 C9orf72 COL1A1 CKAP2L TBK1 ADAMTS2 SLC2A3 GRIN1 NTNG1 GRN MECP2 CSF1R CHMP2B TMEM106B GLE1 ACTB VCP COL1A2 KRAS TREM2 FTL SMARCA2 NDUFB11 HTT ACTG1 SLC19A3 TARDBP ADAMTSL2 COX7B NDUFA6 ASAH1 PRPS1 HNRNPA2B1 FGFR1 SMC1A HP_HEMIPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIPLEGIA CACNA1A STAT4 SLC1A3 SCN1A ATP1A2 PRTN3 HLA-DPB1 ATP1A3 KRAS GALC HLA-DPA1 IRAK1 SMARCAL1 SUOX PAH SNORD118 ARX GNAQ MT-CYB ADA2 SCN5A NPPA DOCK8 TBC1D24 PRF1 CTLA4 COL4A2 PRRT2 COL4A1 CTC1 SPP1 NOTCH3 FGFR1 PTPN22 HP_AKINESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AKINESIA PANK2 RAPSN KARS1 FGF14 CHRNA1 MUSK DNAJC13 NEB ERBB3 FXR1 EIF4G1 MAPT DCTN1 ATP13A2 FLVCR2 VPS35 SLC18A3 TOR1A DPAGT1 LRRK2 MYOD1 PODXL CNTN1 TMEM240 SYNJ1 VPS13C GBA NUP88 DNAJC6 DOK7 CHRNG CP GIGYF2 CHRND SNCA HP_ATHETOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATHETOSIS SLC46A1 TRAPPC11 NGLY1 PLP1 GCDH KIF5A FOXG1 PRRT2 GNAO1 PDE2A NDE1 HCFC1 CACNA1A SLC6A8 PIGN DPYSL5 GAMT RNASET2 PIGV FOXRED1 PDGFB CACNA1D UBA5 SMPD1 EPRS1 UQCRQ CUX2 CYB5A POLR3K SLC16A2 PHGDH WARS2 TWNK ABCC8 ACO2 SLC20A2 KCNA1 UBQLN2 ALDH18A1 DDC SCN8A SUCLA2 CYB5R3 AUH PDGFRB SLC17A5 HP_ARNOLD_CHIARI_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARNOLD_CHIARI_MALFORMATION TBL1XR1 BICRA HMGA2 GTF2I FANCI ERF FBN1 GTF2IRD1 POLR3A CLIP2 DKK1 FGFR2 POR ABHD11 PTCH1 PIK3CA CDC45 SC5D NOVA2 ELN FOXF1 FGFR3 NOTCH2 SH2B1 ZIC1 EIF4H LAT2 HRAS STX1A MAN2B1 CREBBP KANSL1 DNMT3A ZEB2 FUZ SLC39A14 DHDDS PORCN MLXIPL RRAS2 PTH1R BUD23 TGFBR1 VANGL1 METTL27 SETD2 TBL2 DACT1 LIMK1 EP300 CLDN3 CWC27 BAZ1B PPP1R12A NOTCH3 MKS1 MAP3K7 FGFR1 PAX2 MAF SON SIK3 SMO PPP1CB RFWD3 GTF2IRD2 TGFBR2 TONSL LEMD3 SMARCA2 SKI NONO FLNA NCF1 RFC2 FKBP6 GNAQ CHD4 CLDN4 NFKB2 DNAJC30 VPS37D PHEX SALL1 SETBP1 TMEM270 NFIA BCL7B KRAS HP_OROFACIAL_DYSKINESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OROFACIAL_DYSKINESIA ADCY5 PANK2 MRE11 FGF14 SLC35A1 MICU1 PRRT2 IREB2 COQ2 PLP1 SLC6A3 PDE10A ATXN7 GNAO1 JAM2 LRPPRC SLC18A2 FOXG1 VPS13A FTL PNPT1 CYP27A1 PRKRA CHMP2B HP_INCOORDINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCOORDINATION RORA MRE11 RAD51 SLC25A15 PSAP PANK2 SCN9A RPIA ATP6AP2 PDE10A GRIN2A ATP1A3 SPTBN2 ALG13 ARL6 ADAR NTN1 ASAH1 ATXN3 GALC MFN2 SCN1A MT-TE DYM GRID2 GCH1 COL6A2 HLA-DQB1 GLRA1 POMT1 ARSA TXN2 VCP STX1B ADGRV1 EIF4G1 MAN2B1 STXBP1 FKRP GABRG2 ARG1 CACNA1A CCDC28B CAPN3 TSHB APC2 TTN GABRD POLG2 PIK3R5 HADHB GBA EED DYNC1H1 CRPPA TCF20 COQ2 GIGYF2 SH3TC2 TTC19 CLN5 NKX2-1 SNRPN CARS1 PYROXD1 MYPN SCYL1 GMPPB BBS1 ATP2B3 KBTBD13 CLCNKB GPHN PAK3 ALMS1 KCNC3 ATXN8OS PLEC MED13L POLR3A MPZ SLC6A8 ATP7B KDM4B FHL1 PDCD1 KCND3 HUWE1 DNAJC13 GABRA1 SYNE1 DYRK1A MT-ATP6 SLC19A3 GALT RRM2B HEPACAM HINT1 CLCNKA TAF1 SLC25A4 CLN8 TPM3 COL6A3 KLHL41 PLA2G6 ALG2 POGZ FIG4 RNF168 AFF2 SNCA HLA-DRB1 TPM2 HSD17B10 YWHAG ABCD1 PRNP NEB COLQ VPS13D TBC1D24 ALG14 CWF19L1 SCN2A RDH11 MTPAP EEF2 DCC HADHA POLG SCN1B PDE2A COX20 SET PMPCA SDHAF1 MTFMT NSD1 ELP1 ERCC4 DARS2 CHP1 TIA1 KIF1C LMBRD1 BSND TANGO2 CAV3 FKTN ABCA2 DNAL4 COL12A1 KCNA1 NUP62 ACTA1 SETD2 DEAF1 ADSS1 MLXIPL TWNK SDHA FRRS1L SGCG ATXN10 DAB1 TPP1 NEFH GRM1 SLC18A2 AASS MAPT GJB1 DPAGT1 C19orf12 RPL10 SYNGAP1 B4GALNT1 SCO2 SLC52A3 TGM6 SLC25A1 SIM1 TBC1D23 UBE3A ELN CREBBP TCF4 FA2H CPLX1 HAX1 HCN1 SDHB RNU12 VWA1 SLC2A3 VPS35 PCDH19 PMP2 SGCA ACOX1 GFPT1 ARHGEF2 ATL1 SLC52A2 NOL3 LZTFL1 RNF125 PMP22 LRRK2 HTT GDAP2 MTHFR BSCL2 LAMB2 NOP56 SLC22A5 EP300 STIM1 LYST MTR COL6A1 SDHD SQSTM1 HP_CLUMSINESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLUMSINESS TPM2 CLN5 GJB1 NKX2-1 SNRPN RAD51 PSAP TTN NEB TBC1D24 CWF19L1 ARSA GALC MAN2B1 SCO2 SLC52A3 DCC UBE3A MYPN ALG13 NTN1 ATXN3 MAPT ATP2B3 KBTBD13 PRNP CPLX1 ASAH1 CLCNKB HAX1 PAK3 DARS2 SLC2A3 TIA1 KCNC3 PLA2G6 POLR3A BSND MPZ CAV3 PANK2 ATP7B ACOX1 KDM4B DNAL4 SLC52A2 CLN8 RNF125 GRIN2A PMP22 SYNE1 ACTA1 HTT CAPN3 TSHB GALT DEAF1 HEPACAM TWNK CLCNKA SDHA SLC22A5 FRRS1L KLHL41 TPP1 TPM3 KCNA1 RNF168 AFF2 AASS SQSTM1 HP_SPASTIC_PARAPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_PARAPARESIS FA2H TTC19 C19orf12 CCDC88C SLC25A15 RNASEH2C FAR1 GALC PLP1 ATP6AP2 SPG7 MTPAP COASY POLR3GL SELENOI MTRFR ABCD1 SPART SLC30A10 MICOS13 SDHAF1 SOX10 GJC2 RNASEH2B PPP1R15B RNASEH2A AIMP1 IDUA SDHB EDNRB TREX1 MTHFR MAG TRMT10A AFG3L2 MED13L PEX16 BCOR SDHA ARG1 IFIH1 SAMHD1 WDR45 POLG GOT2 GBA ADAR OPA3 CPT1C TBCE GJA1 CYP27A1 PNP BTD SDHD SPG21 HP_DEGENERATION_OF_THE_LATERAL_CORTICOSPINAL_TRACTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEGENERATION_OF_THE_LATERAL_CORTICOSPINAL_TRACTS SQSTM1 SOD1 FUS NEFH C9orf72 VCP WASHC5 DCTN1 TBK1 SLC33A1 PLP1 CPT1C SPG11 UBAP1 ATL1 SPG7 SPAST NIPA1 RTN2 TARDBP PRPH CHCHD10 HP_HEADACHE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEADACHE SDHD OPA1 COL1A1 NF1 YEATS2 ENG ERF MYO1E HLA-DPA1 PDCD10 FLI1 TPM3 PTPN22 MT-ND6 TGFB1 TTR MT-CO2 CDKN2B VHL MT-TV NDP GPR101 CCR1 MEFV NOP56 FAS PIK3CA TGFBR2 MT-TS2 P4HA2 NLRP3 SMAD3 PMS2 SDHB IFIH1 SAMHD1 AIP GABRG2 MLH3 POLG2 ZFHX2 TREX1 MSH2 CTNND2 APP POLG PTEN ACVRL1 MSX2 TWNK PTPRO CACNA1A PDGFB HACD1 HLA-B SDHC ATP1A2 BAP1 MAGI2 SEMA4A CYB5R3 ADA2 CDH23 TBC1D8B RELA CCM2 MT-TW STAT4 CLCN2 FGFR3 SLC2A1 CSNK1D CFH CACNA1D MAX TPM2 TRAF3 KIF23 F8 COL3A1 DNMT3A RET RRM2B ERAP1 INF2 MT-TC COL5A2 SRSF2 ADAR CNNM2 ARHGDIA PIGA RNF168 ITGA7 MDH2 PDGFRB IL23R FLT1 ACTN4 NPHS1 EGF CDKN1B MT-TF TLR3 GP1BA NPPA MPL GBA DEPDC5 NOTCH2 DAAM2 CD2AP NPHS2 CTNNB1 IRF3 MT-TK IRAK1 DNM1L PIGT UNC93B1 NF2 KIF1B ALX4 ESR1 KCNA1 SCN1A LPIN2 NHLRC1 MT-TS1 ADAMTSL1 SMO APC NUP205 GCDH IL10 PRRT2 JAK2 PEX11B CDC73 RASA1 FAN1 GP9 ZFTA EPAS1 SLC1A3 MARCHF6 FH CDKN2C MT-TQ CDKN1A SLC25A11 CFI KCNK18 EDNRA STARD7 COPB1 ANKFY1 KCNJ5 PGK1 SDHAF2 LRP5 DNAI1 COQ8B SLC6A19 CTLA4 STIM1 WT1 TENT5A NUP133 BMPR1A GP1BB MYD88 MLH1 UBAC2 NUP37 NAGS DKK1 MT-ATP6 KIT KRAS RYR1 KLRC4 MTHFR NUP160 C4A SH2B3 EPOR MYL2 AKT1 NLRP12 ANLN HELLPAR TMEM127 FGFR2 SLC19A2 MYORG COL4A3 NUP85 HTRA1 TLR4 MLX ASXL1 MT-TH NOTCH3 BRAF PAX2 KYNU FARSB KRIT1 ACTA1 ACP5 TBK1 MEN1 CYP11B1 MT-ND5 GAPVD1 MT-CO1 HLA-DRB1 AMER1 RPS20 NFIX DLST RNASEH2B TNFRSF1A COL4A1 IL12A-AS1 SMARCB1 MVK SPOP COL5A1 TRAF7 PRKAR1A HLA-DPB1 SAMD12 USP8 ATP1A3 TET2 GDF2 SUFU EPHB4 SLC25A4 EMP2 VANGL1 SLC12A3 MT-ND4 PLCE1 KDELR2 PRTN3 RNASEH2C MT-TL1 CLCNKB RASGRP1 MAOA FUZ EPM2A NUP93 SH2B1 SCN5A RNASEH2A ELANE TICAM1 APOL1 CASP10 RELN MSH6 MBTPS2 CRB2 ADRA2B TNF CORIN AMACR SMARCAL1 STOX1 SMARCE1 NUP107 MT-ND1 IL12B SQOR EPCAM TRPC6 SDHA GATA2 CPT2 CNTN2 SPP1 TP53 TERT MT-CO3 IL12A PMS1 THPO CYP11B2 SELENON AP2S1 RNASEH1 MT-CYB CLTRN SMAD4 KL PRKCD SOST SRPX2 FASLG ARHGAP24 BCAT2 LGI1 TWIST1 MAP3K20 ACSF3 GRIN2A HTR1A CD46 HP_UNSTEADY_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNSTEADY_GAIT RAB11B PRNP AP3B2 DDHD1 CCDC88C DNM1 HERC2 CWF19L1 CIZ1 RNASEH1 CACNA1A AP2M1 ATP6AP2 PDE10A SAMD9L RNF170 KCNB1 PITRM1 PLA2G6 PAK1 NF2 FGD4 KCNQ5 PMPCA MTFMT CAMTA1 DHPS SYNJ1 MME DCC DARS2 PNPO PPP2R2B PCNA ERCC8 PPP2R5D VPS41 CDK19 RUBCN DCPS GAN PEX2 STAG2 SLC13A5 SACS NEFL ATXN10 GABRA5 MAST1 EIF2B1 CHD2 RPE65 CYFIP2 KCNA2 GLRX5 GABRG2 ZSWIM6 XRCC1 CACNA1B PARS2 MGAT2 DEAF1 ADSS1 LRAT SLC2A1 AARS1 CNKSR2 EIF2B5 NECAP1 SDHA CLTC SCN3A DAG1 HTT KIF1C MCM3AP SLC6A1 ATXN8OS DHX16 DAB1 NDRG1 GABRB2 CYP2U1 CELF2 VPS13D NTRK2 EEF1A2 BCL11B GJB1 GABRA2 TRAK1 DHDDS CHD3 CACNA1G HPDL VWA3B CLN5 MAPT NAT8L HCN1 MATR3 CLCN4 SCN8A ERCC6 STXBP1 DPM3 SPATA7 PACS1 SMS SHANK3 CREBBP SLC1A2 WWOX SUCLG1 ATP1A3 YWHAG LCA5 ATP2B3 P4HTM GARS1 PDHX SYNGAP1 KDM5B FGF12 HACE1 EIF2B4 MAPK8IP3 EXT2 ALDH4A1 STUB1 AIFM1 PPP3CA PRKRA MPZ QRICH1 EIF2B2 CLN8 GRIN2D ARV1 VAC14 ATP7A CRAT REEP1 BSCL2 PMP22 KIF1A SYT14 NUS1 FGF13 SGCA DALRD3 SZT2 NEXMIF ATP6V1A TPI1 ACTL6B EP300 EIF2B3 OPA3 SCN1A TRPC3 UBA5 HP_CERVICAL_MYELOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CERVICAL_MYELOPATHY EXT1 ARSB GLB1 EXT2 GALNS COL2A1 NMNAT1 HP_VERTIGO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTIGO SDHD JAK2 MYD88 UBAC2 CLCNKB VHL FLI1 IL23R SCN5A PTPN22 FOXI1 DKK1 GCGR TET2 CNNM2 DBH CACNB4 MYO7A EGF RYR1 NPPA MEFV KCNJ10 MPL CCR1 KLRC4 NOP56 C4A ADA2 FIP1L1 SH2B3 EPOR RYR2 FAS CASQ2 P4HA2 ZBTB16 CTNNB1 TMEM127 HLA-B KCNA1 NABP1 SDHB AIP NF2 TRPM4 RARA KIF1B RET TPK1 SDHA GATA2 BCOR NPM1 TLR4 BRAF CACNA1A GLA SCN1A SDHC CACNA1G SLC1A3 GCDH IL10 CALM1 COCH MEN1 SLC26A4 IL12A THPO NAGA SCN2A HLA-DRB1 SLC12A3 CDH23 TBL1XR1 DLST CCND1 TECRL STAT5B CALM3 STAT4 IL12A-AS1 MVK CALM2 PRKAR1A EPAS1 MAX JUP FH TRDN GYG1 COL3A1 MYL2 DNMT3A SLC25A11 SCN1B ERAP1 SDHAF2 NKX2-5 ATP1A2 NUMA1 PRRT2 STAT3 PML IRF2BP2 NF1 PDGFB TNFRSF1A MDH2 HP_RESTING_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESTING_TREMOR MAPT PSAP ATP6AP2 SNCA CACNA1G RAB39B NR4A2 CDKL5 POLG SNCAIP MAN1B1 SYNJ1 VPS13C ATXN2 GABBR2 ATXN8OS PARK7 CHCHD2 FMR1 STXBP1 DNAJC6 GIGYF2 FTL UQCRC1 GCH1 ADH1C NTNG1 LRRK2 MECP2 VPS35 DNMT1 ADCY5 GLUD2 MICU1 COQ2 TWNK DNAJC13 TBP EIF4G1 ATP13A2 PODXL POLG2 RRM2B VPS13A ATP1A3 GBA TAF1 SLC25A4 OPA3 CYP27A1 PINK1 SMC1A HP_ANENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANENCEPHALY TBX1 SEC24C TBC1D24 TMEM107 TRIM36 TMEM216 KIAA0586 FIG4 RNASEH2C COMT FLVCR2 MKS1 TBX15 TMEM231 SMOC1 SEMA3E NDE1 JMJD1C KIF7 HYLS1 UFD1 GPKOW HOXD13 CC2D2A B4GAT1 TCTN3 RNASEH2B VAC14 RNASEH2A CEP290 TREX1 RPGRIP1 RPGRIP1L GP1BB WDR81 TMEM67 VANGL2 GLI3 TCTN1 PHGDH DACT1 B9D1 ARVCF B9D2 VANGL1 FUZ CSPP1 IFIH1 SAMHD1 CCL2 CEP55 TCTN2 RREB1 SNRPB ADAR HIRA FANCB TXNDC15 TBXT NUAK2 SF3B4 ATP6V1B2 CHD7 TMEM237 HP_HYDRANENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYDRANENCEPHALY SNRPB WDR81 CEP55 NDE1 PHGDH FLVCR2 TBX15 GPKOW HP_TRANSIENT_ISCHEMIC_ATTACK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRANSIENT_ISCHEMIC_ATTACK CRELD1 MYLK RNF213 GLA TP53 ABCC6 SMAD2 TGFBR2 ENG ENPP1 COL3A1 PRKG1 JAK2 FBN1 SMARCAL1 SON THPO FOXE3 MYH11 ADAMTS13 LOX SH2B3 MAT2A MPL ANGPTL6 ZMPSTE24 KRAS ELN LMNA MYH6 THSD1 SMAD4 TGFB2 NR2F2 ACVRL1 SMAD3 TGFB3 ACTB GATA4 TBX20 TGFBR3 MFAP5 CITED2 ACTA2 ACTG1 GATA6 GDF2 NKX2-5 TGFBR1 TET2 CALR MYBPC3 ACTC1 TLL1 HTRA1 HEY2 NOTCH3 HP_DROWSINESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DROWSINESS MTRR HNF4A ABCC8 CHRNB1 AK9 LONP1 LRP4 MAN2B1 SLC13A3 HCRT CHRNE SCN4A SLC19A3 NAGS PDHA1 CHRNA1 ZNHIT3 PTS CACNA1A SLC25A13 RAPSN MT-CYB FBP1 HNF1A KIF1A ATP1A2 SPR CHRND KCNJ11 AGRN PIGG UCP2 COL13A1 DOK7 THRA MUSK HP_RECURRENT_PAROXYSMAL_HEADACHE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_PAROXYSMAL_HEADACHE EPAS1 SDHA SDHD MAX FH SDHC PRKAR1A MT-TS1 MT-TS2 MT-TQ MT-CO3 MT-TL1 VHL TMEM127 SDHB MT-ND6 DKK1 DNMT3A SLC25A11 MT-CO1 MT-ND1 MT-TW KIF1B RET SDHAF2 DLST MT-ND5 MT-TH MT-ND4 MT-TF NF1 MT-CO2 MDH2 HP_LACK_OF_PEER_RELATIONSHIPS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACK_OF_PEER_RELATIONSHIPS SLC6A1 NLGN3 SLC2A1 MECP2 NEXMIF SCN1A SYNGAP1 CHD2 AP2M1 NLGN4X HP_MOTOR_DETERIORATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTOR_DETERIORATION GALC CLN5 RBM28 CLN6 PLEKHG4 SDHAF1 PRKAR1B CLN8 MECP2 FRRS1L GRIN2A TK2 SDHA SDHB HGSNAT NOTCH3 PAH SDHD HP_ABNORMAL_CEREBELLAR_VERMIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CEREBELLAR_VERMIS_MORPHOLOGY MME ATR LARGE1 SEPSECS MRE11 KIAA0586 BUB1B SIX3 CEP290 INTS1 FGFR1 VPS51 RAB3GAP1 KRAS PGAP1 RPE65 TCTN3 RERE GRID2 NOP56 C2CD3 NUP37 CEP41 ZIC2 DAG1 CENPF ITPR1 TCTN1 QARS1 RPGRIP1L ZEB2 KIAA0753 IFT140 ARL13B AIPL1 TMEM237 TMEM67 INPP5E GPC4 TUBB3 DYNC2H1 TDP1 ZNF423 CBY1 ARL3 KATNIP PIGN COG1 MKS1 NPHP1 SLC35A2 TUBB SHH IQCB1 STXBP1 VPS41 PPP1CB GPC3 RDH12 PSAT1 FKRP POMGNT2 SRD5A3 FOXC1 NPHP3 ATP6V0A2 FA2H B9D1 ASXL1 CEP120 SMARCC2 FAR1 PUM1 MYOD1 TSEN2 KIF7 DPH1 TSEN54 DISP1 ZIC1 ATP6V1A FGF8 CHD7 DAB1 TXNDC15 LCA5 EVC2 B4GAT1 ARID2 SPECC1L PPP1R21 SIL1 NMNAT1 CWF19L1 BUB1 AHI1 TMEM138 LRRC32 MEF2C DCHS1 PLG COX20 TCTN2 WDR35 WDR81 ARID1B SACS CHP1 DENND5A COL4A1 LMX1B RAB18 TSEN34 SRPX2 B9D2 CRPPA NEK1 CDKN1C DHCR7 SETD2 GMPPB TULP1 STIL CCDC22 GOT2 HHAT PIBF1 EVC GLI2 PIEZO2 ATN1 PMM2 GJB1 TBC1D24 CC2D2A TMEM216 MDH1 B3GALNT2 ODC1 NRAS B4GALT1 TRPC3 PIGU PHGDH KCNQ1 CRX SMG9 CPLANE1 XRCC4 CACNA1A SMARCA4 FKTN DPYSL5 RNU12 USP9X MAB21L1 POMGNT1 PEX16 ALX4 GLI3 ATP6V1E1 PIK3R5 SUFU RAPSN CSPP1 PMPCA PRKCG TSEN15 POMT2 ARMC9 PDE6D INPP5K LAMA1 WASHC5 RXYLT1 MPL SOX11 WDR73 HTT BUB3 FLVCR2 TMEM231 POLR3A EBP USP45 SLC25A24 TMEM240 MVK OFD1 CCDC32 RAB3GAP2 ADGRG1 NUP88 GDF6 HYLS1 LAMB1 KCNQ1OT1 POMK DYNC2I1 BCOR BMP4 TBCK SPATA7 IFT80 RAC1 TBC1D20 LRAT APC2 DYNC2I2 IMPDH1 WARS2 CEP104 DPF2 FTO TMCO1 ACY1 SEMA3E ATP6V1B2 SMARCB1 CACNA1G GRIA3 TRAPPC9 VPS4A EPG5 FRMD4A SCYL1 ATP2B3 PIGS CRB1 TOGARAM1 HRAS TFAP2A RBM10 CDC42 AFF3 PTEN POMT1 FAM149B1 IGF2 TAF1 RD3 SMARCD1 ALG3 OPHN1 ARID1A PCYT1A RAB11B TMEM107 SOX4 SEMA6B KCNJ13 SLC18A3 MYO5A EXOSC8 AP1S2 NID1 PCGF2 CPT2 DOK7 NSD1 SMARCE1 RPGRIP1 THOC2 NCAPG2 SETX IFT172 ASXL3 PAFAH1B1 EXOC2 ATXN8OS L1CAM TRRAP MUSK FDXR CACNA2D2 PACS1 SLC25A19 RNU4ATAC EBF3 ATXN1 PI4KA CEP57 TUBA1A KIF1A VPS35L THG1L GRM1 BRF1 TRIP13 PRKDC DLG4 CEP164 RNF113A GUCY2D CUL4B FAT4 HP_AGENESIS_OF_CEREBELLAR_VERMIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGENESIS_OF_CEREBELLAR_VERMIS ITPR1 TMEM216 PDE6D INPP5E CEP290 ZEB2 MEF2C TFAP2A ALX4 RNU4ATAC MVK HP_ABNORMAL_CAUDATE_NUCLEUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CAUDATE_NUCLEUS_MORPHOLOGY NDUFAF5 TUBB2B GCDH TYROBP FOXP2 NUP62 ATP13A2 HTT COASY TREM2 ADAR NDUFB8 MT-ATP6 SCO2 TIMM8A JPH3 SURF1 BSCL2 VPS13A NDUFS2 FTL SLC2A3 NDUFAF3 OPHN1 DCX HP_CAUDATE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAUDATE_ATROPHY BSCL2 VPS13A NDUFAF5 TYROBP HTT FTL SLC2A3 FOXP2 TREM2 OPHN1 TIMM8A JPH3 HP_CERVICAL_CORD_COMPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CERVICAL_CORD_COMPRESSION IDUA ARSL EP300 COMP RMRP IDS CREBBP EXTL3 HP_INTELLECTUAL_DISABILITY_MODERATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTELLECTUAL_DISABILITY_MODERATE RNU4ATAC DMXL2 THOC2 PSPH FMR1 CDH11 ANK3 PIGL L1CAM VPS16 KIF5A SLC45A1 NSUN2 NCAPD2 C12orf4 MAN1B1 GRIK2 INPP5E MT-TE AIMP1 SLC3A1 ZNF41 CLTC WASHC4 PIGV NFIX KCNQ5 PPP2R5D NBEA SARS1 ZIC1 SLC9A7 HIVEP2 ZNF81 GRM7 KDM5B ANKRD11 UBE4A MECP2 STAG2 FRMPD4 RPGRIP1L MED25 KANSL1 SNRPN UFSP2 NDST1 AGTR2 PTCHD1 CDH15 EXT2 AKT1 APC2 ARX ZC3H14 SCN1A FTSJ1 PAK3 WARS2 PIGY DPF2 LAMA1 TECR MED23 SHMT2 CSNK2B PRPS1 ZMYND11 TRAPPC9 TRPM3 FGFR2 MYT1L CUL4B IQSEC1 SMARCB1 CWC27 LMAN2L STXBP1 PAX1 CLIP1 MAGEL2 COG1 CRBN GRIA3 METTL23 TTI2 PRSS12 SHANK3 SYP TMEM67 DLG3 COL1A2 RSPRY1 ST3GAL3 NDN FGFR3 DCPS MED13L SETD1B YY1 AP1S2 RTTN OCA2 CUX1 PIGW SMARCC2 TAF1 IL1RAPL1 EBP HNRNPK MAB21L2 B3GALNT2 FOXP1 TTC5 SRCAP FBXO31 SMARCD1 GLUD1 COG5 RSRC1 ENTPD1 PRMT7 UBE2A TGM6 DMD CDK5RAP2 SLC35A3 DLL1 CNNM2 PGM3 FRRS1L PGAP3 EZR OPHN1 ACSL4 ARID1A ZNF711 GTF2E2 CNKSR2 MID2 SOX4 ARID2 TMEM70 TBC1D24 CWF19L1 MBD5 SMOC1 RDH11 ARHGEF6 DCHS1 PCDH19 PDE2A PGAP1 CHRNA7 RAB39B EDC3 PGAP2 EGF CHAMP1 EPB41L1 GDI1 DEAF1 NSD1 APC BRSK2 ARID1B PLP1 RPS6KA3 SMARCE1 LINS1 WDFY3 FMN2 ALG13 CACNG2 CAMK2B CAMKMT XYLT1 FAM126A COQ8A USP27X CIC PREPL ALKBH8 TOR1A DPAGT1 SETD2 NCAPH TAOK1 DNMT3A SMARCA4 GRIN2A KIRREL3 CENPJ CASK ASXL3 HNMT TNIK TSPAN7 ASH1L SYNGAP1 RAB11A MED12 CC2D2A HMGCL IQSEC2 TCF4 NDUFAF5 STEEP1 EEF1A2 SLC12A2 PIGC CLCN4 POLR3A SLC16A2 KIF1A PIGO TBCD PPM1B GRIN2B SETBP1 MBOAT7 CPLX1 PTRH2 UPF3B PUF60 GRIN1 USP9X SET SATB2 NHS ALX4 TUBB3 MED12L DOCK8 PTDSS1 NCDN FBLN1 SPATA5 HCFC1 TWIST1 PPP3CA TUSC3 KLF13 CC2D1A DYNC1H1 CRADD HPRT1 NEMF RBMX SOX11 CAMK2A FAT4 HP_PROGRESSIVE_NEUROLOGIC_DETERIORATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_NEUROLOGIC_DETERIORATION HNF4A CNTNAP2 NHLRC1 HIBCH PSAP MICOS13 ARSA KCTD7 ATP1A2 GALC ERCC6 GBA TINF2 TIMMDC1 ITM2B RAB27A SYNJ1 LRPPRC HSD17B10 ALDH18A1 BSCL2 SDHAF1 SDHB GRN ERCC8 HEXB HEPACAM PTS SLC1A3 RRM2B GLB1 CACNA1A CTNS PMPCA PDGFRB SDHA IDUA GCH1 ATP1A3 SUMF1 QDPR NAGLU TREX1 NDUFA6 MCOLN1 EPM2A KARS1 VCP CYP27A1 LMNB1 SDHD HP_ACTION_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACTION_TREMOR MRE11 JPH3 HIBCH ITPR1 ATP6AP2 FLVCR1 POLR3A KNSTRN SPTBN2 COL6A3 POU4F1 MYBPC1 MFN2 UROC1 SIGMAR1 RARS1 GCH1 NOP56 TENM4 ERCC8 SPTBN1 FGF14 MT-ND6 MT-ND4L NDUFS2 NKX6-2 ATXN10 STXBP1 IFRD1 PSAP CACNA1A DNAJC19 VLDLR LMNB1 VPS13A KCNJ10 MAG LAMA1 MT-ATP6 CARS2 RNF113A TH NDRG1 SPG11 COQ2 ANO10 ANO3 NKX2-1 TMEM70 SLC25A46 NGLY1 TBP CACNA1G ACBD5 PPP1R15B TMEM63A NIPA1 MT-CO3 PTEN SNCA ALDH18A1 SCYL1 PRICKLE1 ATP2B3 FMR1 ERCC3 PLP1 PIK3CA KCNC3 FARS2 ERCC2 MT-ND1 MPZ UFC1 PRKRA NONO ATCAY FXN ATXN2 ELOVL4 GABRA1 EPRS1 SCARB2 ATP13A2 SLC19A3 GALT FUS PEX10 EIF2AK2 TGM6 OPA3 GTF2H5 ITM2B FAM126A OPHN1 CSTB LEMD2 GABRG2 CCDC88C SEMA6B MT-CYB CWF19L1 SCN2A ARSA TK2 PPP2R2B PITRM1 DRD3 SCN1B MAOA MPLKIP POLG FBXO7 MT-ND5 TMEM240 GJC2 GSS MT-ND2 SCN1A KIF1C SACS SETX SLC30A10 TMEM106B MT-CO1 ABCB7 TSPOAP1 TARS1 POLR3B MT-ND4 BSCL2 SCP2 PIK3CD TPP1 GJB1 ABHD12 VWA3B KCND3 SLC9A1 ERCC6 PLA2G6 ATXN1 GTF2E2 CAMTA1 PARK7 XPNPEP3 ALS2 VAPB RFC1 RNU12 AKT1 DNAJC30 ATN1 STUB1 PCDH19 QRICH1 PIK3R5 BRAT1 THG1L PMP22 REEP2 NFASC PNPLA6 UCHL1 SCN9A SLC6A17 CTDP1 TUBB4A AFG3L2 NOTCH2NLC HP_HEAD_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEAD_TREMOR PIK3R5 FGF14 NEFL NKX6-2 PLP1 SETX CACNA1G HIBCH CIZ1 TMEM63A IFRD1 PPP2R2B GBA2 UCHL1 ITPR1 ANO3 LMNB1 VPS13A PEX6 GJC2 SIGMAR1 LAMA1 EIF2AK2 ALS2 NOP56 SPG11 SCP2 STUB1 KIF1C FUS MTM1 AFG3L2 DNMT1 NOTCH2NLC SPTBN1 SH3TC2 HP_FOCAL_AWARE_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_AWARE_SEIZURE GABRG2 PLPBP NPRL3 TRAF3 STXBP1 GABRA1 GRIN2A SCN2A LGI1 TBK1 SLC13A5 SCN9A SCN1B UNC93B1 SCN1A TLR3 NPRL2 FRRS1L TICAM1 DEPDC5 MICAL1 ALDH7A1 RELN CPA6 GAL PCDH19 HP_CEREBELLAR_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBELLAR_CYST LARGE1 SEPSECS GPC4 WDR73 BUB3 BUB1B SIX3 AHDC1 POMT2 FLVCR2 TMEM231 POLR3A EBP FKRP FGFR1 PDHA1 VPS51 KRAS NPHP3 OFD1 STIL ZIC1 TCTN3 GLI2 NUP88 C2CD3 TMEM216 KCNQ1OT1 POMT1 ZIC2 POMK DYNC2I1 BCOR DAG1 TCTN1 ATP6V0A2 IFT80 SNX14 CSPP1 DYNC2I2 PSAT1 DPF2 LAMA1 FTO TMEM67 CRPPA SEMA3E ARID1B DYNC2H1 ATP6V1B2 SMARCB1 PIGN MKS1 GRIA3 SLC35A2 TUBB SHH DOCK6 PPP1CB ZSWIM6 GPC3 POMGNT1 HRAS RPGRIP1L POMGNT2 CDC42 AFF3 LONP1 KIAA0586 B9D1 ASXL1 SMARCC2 FAR1 IGF2 MYOD1 NRAS TSEN2 KIF7 DPH1 DISP1 SMARCD1 ATP6V1A ALG3 FGF8 CHD7 TXNDC15 EVC2 B4GAT1 OPHN1 ARID1A TMEM237 TMEM107 SOX4 ARID2 BUB1 SLC18A3 USP9X PLG AP1S2 NID1 WDR35 DOK7 CEP290 DENND5A SMARCE1 RPGRIP1 COL3A1 COL4A1 B3GALNT2 FKTN WDR81 CCDC22 B9D2 CDKN1C DHCR7 SMARCA4 CPT2 B4GALT1 EVC PIEZO2 WASHC5 HYLS1 PMM2 TBC1D24 MUSK PHGDH EXOSC3 KCNQ1 SMG9 CEP57 CC2D2A DPYSL5 CEP120 MAB21L1 GLI3 ATP6V1E1 RAPSN TSEN15 GMPPB GRM1 TRIP13 TMEM138 TCTN2 ARMC9 TSEN54 RXYLT1 RNF113A TSEN34 SOX11 HP_LEUKOENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEUKOENCEPHALOPATHY NDUFS4 NDUFS1 PSAP ARHGAP31 HIBCH RBPJ PDHB RPIA EOGT PDHA1 EARS2 MEF2C COA8 NDUFS7 MTHFR LAMB1 CLTC NSD2 AP4S1 KCNQ5 AMPD2 RTTN NBEA HIVEP2 ARSA KDM5B NFE2L2 DARS1 TBCK NAXE AP4E1 PC CDH15 OCRL MARS2 RAC1 SUMF1 L2HGDH SNORD118 TREX1 ISCA2 WARS2 EIF2B5 RNF113A ARID2 CSNK2B ZMYND11 TRPM3 DPM3 LYRM7 NOTCH3 AUH MYT1L SSR4 LIPT2 TMEM70 KARS1 STXBP1 PDHX CDC42 MORC2 ACP5 USP7 FARSA NDUFAF3 GALC TREM2 SHANK3 SON DARS2 ACTL6B SDHAF1 SUCLG1 MRPS22 NDUFAF2 AP5Z1 ERCC3 NDUFC2 RFWD3 CLCN2 COL4A1 RNASET2 ERCC2 HK1 FGFRL1 DPM2 SETD1B FOXRED1 PLAA CPLX1 TYMP FKRP EIF2B2 CUX1 LONP1 NDUFA6 NDUFB10 PUF60 NDUFV1 MT-ND1 NDUFB9 NRROS SELENOI TET3 NOTCH2NLC NDUFS8 NDUFAF1 GTF2H5 DLL1 LMNB1 AARS2 FA2H RRM2B CTBP1 POMT2 DDHD2 KIF5A TYROBP MBD5 NDUFAF4 PAK1 ALDH18A1 MPLKIP NUBPL CYP27A1 ALG8 MMACHC CHAMP1 EPB41L1 DEAF1 NDUFV2 PMPCB LETM1 BRSK2 TSEN54 POLG CNP CSF1R CAMK2B LMX1B B3GALNT2 MT-TN HTRA1 NDUFB11 CIC EIF2B1 NDUFA11 ATP13A2 CLN6 DEGS1 CACNG2 PRNP DNM1L TAOK1 GMPPB MT-ND2 KIRREL3 NDUFAF5 TARS1 ASH1L SYNGAP1 SDHA RAB11A OPA1 SCP2 UBA1 SAMHD1 HMGCL AP4B1 ODC1 NDUFS2 NDUFAF8 CLN5 EEF1A2 COA7 RPL10 CLCN4 KIF1A MT-ND3 DLL4 LARGE1 SUGCT NDUFS6 GRIN2B GTF2E2 YME1L1 NDUFA1 MLC1 TIMMDC1 GRIN1 SET EIF2B4 ABCD1 TCF4 SURF1 GJC2 HEPACAM NDUFS3 POMT1 NOTCH1 MT-TS1 AIFM1 MED12L AP4M1 DOCK8 DOCK6 SPG11 BRF1 HIKESHI ACTA2 PPP3CA TRMT1 VPS11 STRADA LAMA1 COLGALT1 SEPSECS EDEM3 GM2A EIF2B3 NDUFB3 DYNC1H1 CTC1 TMEM126B CNKSR2 CAMK2A NMNAT1 HP_MEMORY_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEMORY_IMPAIRMENT PSEN1 TOMM40 BMPR1A DNMT1 MT-TS1 MYD88 MLH1 TYROBP UBAC2 ARSA MT-TL1 XPR1 IL23R FMR1 ECM1 GRIN2A MT-ND6 ATXN3 ABCD1 MAPT KRAS MEN1 PRNP NF2 SMARCB1 MMACHC MEFV C9orf72 YY1 VAMP1 CCR1 SPG11 FAR1 ZNF365 KLRC4 MSH6 HLA-DQB1 C4A ADA2 CYLD MT-CO2 HMBS APP AKT1 TMEM106B VCP FGF14 PIK3CA TGFBR2 RRM2B SORL1 FAS PRKAR1B BAP1 MT-TS2 CTSH TIA1 EIF2B1 PMS2 HLA-B UGT1A1 PSEN2 ALDH18A1 PRKCG SMARCE1 MLH3 MT-ND1 CHMP2B TREX1 MYORG GRN EPCAM EIF2B5 MSH2 MT-ND5 TLR4 PSAP SPG7 MT-TH PDGFRB NOTCH3 SMO TWNK NF1 PDGFB ABCA7 APOE TERT MT-CO3 TREM2 IL10 IL12A SEMA4A PMS1 PAH ATXN1 MT-CO1 SQSTM1 SLC25A13 RPS20 CAMTA1 POLG SLC2A3 STAT4 FAN1 ATN1 MOG EIF2B4 STUB1 RNASEH1 IL12A-AS1 MT-TF GNE HCRT HLA-DRB1 SIM1 CSF1R TRAF7 EIF2B2 MT-TQ REEP2 HTT GSN SPAST JPH3 SUFU ERAP1 MT-TW P2RY11 ACSF3 SLC20A2 EIF2B3 TNFSF4 CP MT-ND4 AFG3L2 HP_DIFFICULTY_WALKING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFICULTY_WALKING KLC2 TRAPPC11 CIZ1 CCN6 CACNA1A DNM1L SLC18A3 ERCC8 EIF2S3 PDK3 INTS1 ASAH1 RTN2 GALC PGAP1 DYM ABHD5 SIGMAR1 RARS1 NTRK1 SYNJ1 GABRB2 NOP56 SH3TC2 AP4S1 SLC25A19 STRADA POMT1 CDK19 GAN AKT1 SLC13A5 VCP FBXO38 BAP1 MSTO1 ERCC6 GYG1 GRID2 PUS3 FKRP CHCHD10 MTRFR AP4E1 KCNA2 GOSR2 DES UBAP1 LRP4 GABRG2 CAPN3 IFIH1 MECP2 PIK3CA SAMHD1 TTN MYO9A ERLIN1 KCNJ10 SPART CYP2R1 WARS2 CNKSR2 NECAP1 CLTC CPT1C GIPC1 MYF6 CRPPA SPG11 CELF2 NTRK2 PDGFB GABRA2 MATN3 TRAK1 MORC2 HCN1 SGCD GPT2 DMD CYP27B1 SLC1A2 SGCB KLHL9 GMPPB TTBK2 CDKL5 KBTBD13 NACC1 TPM2 RSPRY1 SBF2 RNASEH2B PLP1 GPAA1 MIEF2 KCNC3 SLC5A7 ALAD COL13A1 ANO5 ARL6IP1 HSPB3 MPZ VAMP1 ADCY5 TRAF7 ATP7B KCND3 WARS1 ELOVL5 ARV1 COL12A1 WASHC5 FGF13 SYT2 SUFU NKX2-1 CAPN1 BVES SORD FOXG1 ATP6V1A ACTL6B TAF1 SLC25A1 TK2 TGM6 ADAR KLHL41 ATP13A2 MTMR14 MED25 ALG2 DDX6 UBA5 FA2H RAB11B AP3B2 DNM1 TMEM251 NEB ORAI1 ALG14 RNASEH2C ARSA EIF2AK3 PNPLA2 KCNB1 POLG2 DNA2 COASY MYO1H ARSI MT-ATP6 BIN1 FUZ ERCC1 NUBPL SMARCB1 SNAP25 RNASEH2A CHAT FTL DARS2 TIA1 TREX1 ACTA1 FDX2 MARCHF6 MYH7 FKTN MICU1 SACS C19orf12 IBA57 VDR GABRA5 KY SLC30A10 AGRN MFN2 CYFIP2 FLRT1 HERC1 FHL1 DHTKD1 SLC34A3 WDR48 CACNA1B PARS2 NF2 SMARCE1 AARS1 NKX6-2 HPCA SCN3A PSAP TPP1 TPM3 REEP1 PYCR2 NDUFS8 SMO TCAP EEF1A2 FLNC DPAGT1 SURF1 MYOT GJC2 DHDDS TRPV4 AP4B1 TERT B4GALNT1 MATR3 SCN8A RYR1 STXBP1 GJB1 SLC30A9 PLEKHG5 SLC7A6OS TBC1D23 MYPN DNM2 CRYAB WWOX YWHAG HSPB1 PRX PEX6 SYNGAP1 FGF12 ALS2 RNU12 SLC2A3 HACE1 USP9X ABCD1 STUB1 COL6A3 SETX PMP2 HK1 ACOX1 GFPT1 GLE1 FGF14 POMT2 GRIN2D PPP3CA AP4M1 PMP22 DLAT HTT DDHD1 NUS1 BSCL2 GBA2 BICD2 DAG1 DALRD3 SZT2 SPG21 ERCC4 COL6A2 CDK8 DYSF FUS PKP1 COL6A1 LRP12 SQSTM1 HP_WRITER_S_CRAMP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WRITER_S_CRAMP HINT1 TBP THAP1 CIZ1 FTL PRRT2 GCH1 TBC1D24 KCNA1 TOR1A VPS16 CASR GNA11 SGCE COL6A3 KCTD17 DRD2 HP_DYSPHASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSPHASIA CFHR1 TBX1 SEC24C PLEC PSEN1 CACNA1A SCN1A TCF4 GRIN2A CFH POLR1D COMT DNM1L L2HGDH VCP NSDHL HCCS JMJD1C UFD1 EHMT1 SQSTM1 MAPT AMER1 C9orf72 COL1A1 CKAP2L ADAMTS2 GRN GP1BB TMEM106B POLR1C ATRX ACTB TCOF1 RAI1 COL1A2 ARVCF KRAS TREM2 STS SMARCA2 NDUFB11 UBTF ACTG1 POLR1B ADAMTSL2 COX7B CHMP2B RREB1 FLCN ATP1A2 CFHR3 HIRA OCRL PRRT2 FGFR1 HP_FREQUENT_FALLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FREQUENT_FALLS TPM2 MRE11 PSAP COLQ VPS13D PANK2 ALG14 CWF19L1 ARSA ATP6AP2 PDE10A GRIN2A MTPAP HADHA POLG ADAR ASAH1 GALC MFN2 COX20 MT-TE PRNP DYM SDHAF1 FKRP CHP1 COL6A2 KIF1C GLRA1 POMT1 FKTN VCP EIF4G1 SCYL1 COL12A1 NUP62 ARG1 TTN ADSS1 POLG2 PIK3R5 HADHB GBA SGCG DYNC1H1 NEB CRPPA DAB1 COQ2 NEFH GRM1 GIGYF2 MAPT SH3TC2 GJB1 DPAGT1 C19orf12 RPL10 B4GALNT1 ACTA1 SCO2 SLC25A1 PYROXD1 MYPN GMPPB ATP2B3 FA2H GPHN SDHB RNU12 VWA1 PLEC VPS35 MPZ PMP2 SGCA GFPT1 ARHGEF2 ATL1 FHL1 TWNK NOL3 DNAJC13 CLN8 PMP22 SDHA LRRK2 GDAP2 MT-ATP6 SLC19A3 BSCL2 RRM2B HINT1 LAMB2 TAF1 SLC25A4 TPM3 COL6A3 STIM1 ALG2 COL6A1 FIG4 SNCA SDHD HP_SLEEP_DISTURBANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLEEP_DISTURBANCE SARDH SEPSECS KMT2E FOXE1 CCDC32 GTF2I EML1 HDAC8 SATB1 CCDC47 DCTN1 ANK3 ARNT2 POU3F3 HERC2 SLC18A3 TPM3 GRIN2A PTCH1 HCRT VPS51 NSUN2 ATXN3 GRIK2 AIMP1 NDP SLC18A2 GPR101 DDB1 TNRC6B NR1H4 DNMT1 DLL1 IDUA TDGF1 FGF8 WDFY3 MOG WASHC4 SARS1 HIVEP2 HMBS SPTBN1 KAT5 PLCB4 FXR1 GRM7 KDM5B DHX30 UBE4A ATXN10 SIX3 ZEB2 UFSP2 NDST1 NEXMIF CDH15 SIN3A PIK3CA GPHN AIP GABRG2 GRIA4 MYO9A MECP2 ERCC8 LIAS GBA FOXH1 KCNA1 ACTL6B CSNK2B PIGP KCNMA1 TBL2 ZMYND11 SHANK3 TRAPPC9 TUBB3 TRPM3 EP300 GIGYF2 PHOX2B SYT1 HMGCL NKX2-1 NF1 SNRPN SLC6A5 PDGFB ATP8B1 STXBP1 NGLY1 HACD1 PHKG2 PROKR2 HUWE1 LARP7 APOE SATB2 CRBN BPTF USP7 CARS1 GLI2 CDKL5 GABBR2 BAP1 ZIC2 NSDHL PTPN23 CASK SNCA SMARCC2 TSC1 UBR7 SUCLG1 NDN WDR4 NFIX ARCN1 TSC2 DMPK VPS13C ALMS1 CTCF UNC80 ADNP COL13A1 FARS2 FGFR3 CABP4 FKRP SIK1 SLC22A5 CSNK1D MED12L TPM2 GLUD2 NCF1 TBP CUX1 RAI1 TRAF3 CERT1 HPDL ASXL1 TGIF1 KIF15 GLRA1 PUF60 COL3A1 DNAJC30 MYOD1 GSN TSEN2 HNRNPK CRY1 DPH1 SYT2 BCORL1 B3GALNT2 KDM4B SOX3 PSMD12 GNS SLC25A1 BCL7B AGO2 TNFSF4 GJB1 SETD1A DISP1 FRRS1L NAA10 RAD21 ITGA7 AIFM1 JARID2 SLC2A1 CPOX DMXL2 BICRA NEFH RERE COLQ IL12A NTNG2 SHH MBD5 UBE3A TRIM8 ARL3 FLT1 ZMIZ1 DNA2 SLC9A6 LRRC32 PRPS1 PDE2A WASF1 BSCL2 PGAP1 FBXO7 DBH ATXN8OS PHKA2 FBP1 TLR3 SH3BP2 CRH EPB41L1 YY1 DEAF1 CHAT ELN BRSK2 MAGEL2 LINS1 NODAL RUNX2 HEPHL1 CAMK2B EIF4H SPR PNKP HRAS PER3 NEFL CDON CTNNB1 SVBP PINK1 SOX2 AFF4 TANC2 DHCR7 PRNP MED27 TAOK1 FGFR1 UNC93B1 WDR45 KIRREL3 BRD4 BUD23 HNMT TWNK KAT6A ASH1L SYNGAP1 CNOT3 RAB11A HTT DPYS ATG7 CISD2 SNORD116-1 NHLRC1 TCF20 CLDN3 TFAP2B HDC ATN1 LRRK2 SMO CREBBP UCHL1 PPT1 MTRR KAT8 TSPYL1 CLN5 EEF1A2 SLC12A2 KIF1A TSHR SHROOM4 GRIN2B EHMT1 SLC25A13 TCF4 SLC45A1 PWRN1 ASCL1 ABCB11 FKTN SLC2A3 GRIN1 IRF5 HLA-DQB1 SETD5 MKRN3 DOCK3 VPS35 PWAR1 HLA-DRB1 SOD1 RAPSN AHDC1 TBC1D20 WAC TSEN15 AGA NCDN ATP10A LAMB2 CDH23 CEP57 TRMT1 RPS6KA3 TMEM270 TRAPPC4 PGAP3 CC2D1A SLC5A7 FBXW11 CRADD TSEN34 LTBP3 CAMK2A ABCB4 PRPH MADD CNOT1 CHRNB2 SYNJ1 MYT1L SIM1 MAPT CHRNA4 KIF11 WDR73 HIBCH BMP2 GTF2IRD1 TRPV4 NAGS DKK1 C12orf4 NKX2-5 MFN2 COA8 NTNG1 MEN1 FLII NUP88 KCNT1 C2CD3 GCH1 ZNF365 ATAD1 PIGQ ADH1C CLTC GNAI3 KCNQ5 RTTN NBEA HGSNAT IDS POLR2A MYL2 AKT1 PTS EDN1 STAG2 EIF4G1 TELO2 CTSH MED25 SCN1B NACC1 ZC3H14 PODXL NAGLU VPS13A EMC10 GAS1 TECR GATAD2B MED23 METTL27 NIPBL COQ2 FGFR2 BRAF IQSEC1 CHRNA2 LMAN2L CLIP1 GNAO1 FOXG1 HS2ST1 ACTA1 TBK1 HDAC4 GRIA3 METTL23 TTI2 VPS4A PUS7 PRSS12 NADK2 P4HTM ST3GAL3 TNFSF15 HTRA2 ALDH4A1 DCPS SLITRK1 SETD1B SPOP NONO TRAF7 RLIM GNE AFF3 OCA2 ACTL6A DNAJC13 PYGL RFC2 MAPK8IP3 TERT GLRB TAF1 USP8 SUFU TTC5 FBXO31 PARK7 P2RY11 FLCN RSRC1 PRMT7 TDP2 MFSD8 PER2 SLC12A3 POGZ SLC25A22 EZR PALS1 MAN1B1 GNPTAB CLCNKB SLC35C1 SMC1A CLIP2 SNCAIP TNPO3 DUOX2 SCN2A ABHD11 EPM2A EDC3 PCGF2 SMARCB1 CHAMP1 SNAP25 DOK7 TICAM1 PIGT NEUROD2 SLC26A4 FMN2 PAX8 HESX1 SEPTIN9 LAT2 RET STX1A CIC CORIN TRIP12 AGRN IL12RB1 ATXN7 ALKBH8 PRKN PSEN2 CACNG2 STOX1 NF2 SMARCE1 MLXIPL DEPDC5 EXOC2 ASXL3 WFS1 TNIK POMT2 ERCC6 LIMK1 STUB1 IQSEC2 BAZ1B MUSK DPYSL5 PIGC ATAD3A OTX2 NR4A2 MMEL1 DDX6 NALCN TRIO ARX MED13 LRPPRC DNAJC6 ATXN2 SPART MBOAT7 VAMP1 SMC3 GALNT2 TBC1D24 POMT1 FTL SELENON SET SGSH GTF2IRD2 ASPA FMR1 SKI DYRK1A FKBP6 CHD8 POU2AF1 CLDN4 DOCK8 SRPX2 NPAP1 VPS37D AP3B2 TWIST1 PPP3CA MAP3K20 TSEN54 ERCC4 TUSC3 SPIB ACAT1 DYNC1H1 LARGE1 DDC NEMF SNORD115-1 EPG5 RIC1 HP_PSYCHOMOTOR_DETERIORATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSYCHOMOTOR_DETERIORATION ATP6V1E1 HEXA KMT2A RRM2B ATP6V1A GALK1 ATP6V0A2 PLP1 PSAP GALC CLN3 RNASEH1 PLA2G6 PPT1 HP_SHUFFLING_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHUFFLING_GAIT CSF1R MAPT C19orf12 GLUD2 SNCA PRKAR1B DNAJC13 TBP L1CAM MECP2 EIF4G1 SGCD DNAJC6 DCTN1 RAB39B TK2 NR4A2 LRRK2 PODXL SNCAIP TIMM8A SYNJ1 ATXN2 POLG FBXO7 ATXN8OS SLC18A2 TRPV4 GBA TAF1 ZMPSTE24 ADH1C KDM5C COL2A1 GIGYF2 LMNA VPS35 NAA10 HP_ABNORMAL_BRAINSTEM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRAINSTEM_MORPHOLOGY LARGE1 TENT5A SEPSECS RORA CUX2 DLL1 SMPD4 EXOSC1 WDR73 GAS1 PIGA COL3A1 SLC25A46 FLVCR2 CEP290 LAMB1 PDHB ADGRG1 FLI1 PTCH1 NDE1 TGIF1 DPM1 VPS51 DKK1 ZIC2 ZNHIT3 NDUFS7 ZIC1 ENG FARS2 TDGF1 FGF8 TRMT10A SPTAN1 CTNNA2 RTTN FCSK FGFR3 PPP2CA APC2 AKT1 NDUFS1 BAP1 SHH SIX3 MAST1 DISP1 DNAJC19 SNX14 TSEN2 PIK3CA CACNA1A VLDLR RAC1 FGFR1 TNFRSF11A LMNB1 WARS2 LAMA1 TMEM67 FOXH1 CIT TUBB3 SCN1A TRAPPC12 MAPK10 DNAJC3 TSEN54 PDGFB GLI2 NODAL PDHX STAG2 CACNA1G INPP5E CHMP1A PPP1R15B NPHP1 NDUFAF3 SLC35A2 VPS4A SLC19A3 TRAPPC6B MYMK MFSD2A AHI1 NAGA TOE1 TUBA8 NFIX BRF1 PIGS PCLO TUBB CCM2 POMGNT1 RANBP2 DOCK7 AHCY RELN FKRP EN1 SETX THSD1 FOXRED1 SMARCA2 TRAF7 WNT1 AFF3 TMEM216 KIAA0586 ATXN2 PTEN CLP1 NDUFA6 TGFBR3 NDUFB10 DNM1 SYNE1 CDON RARS2 TUBB2A NDUFV1 MT-ND1 SUFU FH NDUFB9 CEP55 GMPPB COG5 ALG3 UBE2A NDUFS8 RPGRIP1L NDUFAF1 CHD2 CYP27A1 POGZ DYNC1I2 SLC5A6 FA2H TBP CCDC88C KDELR2 RERE POMT2 TUBB2B SMC1A FMR1 PAFAH1B1 ARL3 NDUFAF4 GPHN COASY ROBO3 MACF1 COG8 FUZ CDC40 DYRK1A CSPP1 TMTC3 DYNC1H1 NF2 B4GAT1 SMARCB1 NDUFAF2 DAG1 KIAA1109 NDUFV2 MYH3 ANGPTL6 DCC POMK ASNS B3GALNT2 SACS MBTPS2 NDUFB11 MINPP1 NDUFA11 PPP2R1A DEGS1 DNM1L SCO2 TBCD SMARCE1 CRPPA MT-ND2 MTRFR NDUFAF5 GTPBP3 EXOC2 TWNK ASXL1 ETHE1 PDCD10 ATXN8OS OPA1 VRK1 PIEZO2 PYCR2 SMO TRRAP MTRR MDH1 POMT1 NDUFS2 NDUFAF8 GABRB3 TERT GALC MT-ND3 NDUFS6 ATXN1 LAMA2 NDUFA1 NDUFS4 KIF1A TUBA1A EXOC7 FKTN TIMMDC1 GFM2 CASK USP9X MAB21L1 ABCD1 STUB1 DNMT1 NUBPL PPIL1 NDUFS3 ARHGEF2 AIFM1 PMM2 KIFBP TSEN15 KRIT1 NDUFB8 SURF1 TMX2 NDUFB3 TSEN34 TMEM126B EPG5 HP_HYPOPLASIA_OF_THE_BRAINSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_BRAINSTEM MTRR SEPSECS SMPD4 POMT1 WDR73 INPP5E CHMP1A PPP1R15B FLVCR2 LAMB1 PDHB ADGRG1 PAFAH1B1 NDE1 COASY MACF1 MYMK MFSD2A CDC40 CSPP1 TMTC3 DYNC1H1 POMK TOE1 TUBA8 B4GAT1 NFIX TUBA1A KIAA1109 EXOC7 PCLO FKTN TUBB MYH3 LARGE1 CASK USP9X TRMT10A CTNNA2 COL3A1 FKRP FCSK EN1 PPP2CA APC2 PPIL1 TUBB3 DYRK1A AFF3 TMEM216 KIFBP TSEN15 PTEN MINPP1 MAST1 GMPPB TUBB2A BRF1 POMGNT1 TSEN2 VLDLR RAC1 CRPPA TSEN54 FH POMT2 CEP55 EXOC2 WARS2 ASXL1 TMX2 RPGRIP1L CIT TSEN34 PIEZO2 PYCR2 DYNC1I2 HP_ABNORMAL_LOWER_MOTOR_NEURON_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LOWER_MOTOR_NEURON_MORPHOLOGY SQSTM1 SPG11 FUS MATR3 VCP TRPM7 TMEM106B SIGMAR1 C9orf72 PLEKHG5 C19orf12 TARDBP DCTN1 CHCHD10 ALS2 MAPT GRN ASAH1 CHMP2B TBK1 PSEN1 VPS41 VPS13D ATXN3 SETX TREM2 HP_VISUAL_HALLUCINATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VISUAL_HALLUCINATIONS GBA NPRL3 FIG4 DNAJC13 NHLRC1 EIF4G1 PUS3 CLN6 LRRK2 SNCA LGI1 EPM2A CACNA1A FBXO7 SNCB DNAJC5 NPRL2 DEPDC5 RELN ATP13A2 GIGYF2 VPS35 HP_POOR_COORDINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_COORDINATION HSD17B10 TXN2 YWHAG SLC25A15 KCND3 HUWE1 LZTFL1 SYNGAP1 CARS1 TANGO2 SIM1 CCDC28B TBC1D23 ARL6 ELN SETD2 AFF2 CREBBP PDE2A APC2 BBS1 MLXIPL NSD1 EP300 EED ERCC4 TCF20 KCNA1 MTR RNF168 SLC6A8 HP_LOSS_OF_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOSS_OF_SPEECH SARDH PSEN1 ABCD1 PSAP RNASEH2C ARSA GALC CDKL5 NAXD SLC30A9 GRIN2A SPG7 ALDH18A1 SQSTM1 NPC1 GABBR2 STXBP1 MAPT C9orf72 RNASEH2B RNASEH2A TREX1 ADAR NTNG1 MECP2 HGSNAT CHMP2B IRF2BPL TMEM106B CLN8 MAN2B1 BSCL2 TREM2 IFIH1 SLC19A3 SAMHD1 ERLIN2 NPC2 GRN TPK1 ALS2 GM2A AARS2 VCP SMC1A PPT1 HP_NORMAL_INTERICTAL_EEG http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NORMAL_INTERICTAL_EEG SCN2A PDE2A PRRT2 KCNQ3 SCN8A KCNQ2 HP_DIMINISHED_MOVEMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIMINISHED_MOVEMENT PANK2 KARS1 MUSK AIFM1 PET117 SNCA NEB ERBB3 MAPT CFL2 DCTN1 SLC6A3 ATP13A2 FLVCR2 SLC18A3 POLG TMEM240 SYNJ1 VPS13C TPM3 LAMA2 PRNP WWOX MPZ NUP88 DNAJC6 DOK7 GPHN DPM2 SLC2A3 ACTA1 PPP2R2B KLHL41 GLRA1 VPS35 CHRND RAPSN FGF14 CHRNA1 SLC52A2 TWNK DNAJC13 FXR1 EIF4G1 PAM16 TOR1A DPAGT1 LRRK2 HTT MYOD1 TSPOAP1 PODXL CNTN1 KLHL40 TPM2 MRPS16 POLG2 RRM2B LMOD3 GFM1 GBA LAMP2 TH SLC25A4 MTM1 PDE8B CHRNG ALG11 DDC CP GIGYF2 HP_HYPOKINESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOKINESIA MUSK AIFM1 PET117 SNCA CFL2 SLC6A3 ATP13A2 SLC18A3 POLG TPM3 NEB LAMA2 PRNP WWOX MPZ NUP88 DOK7 GPHN DPM2 SLC2A3 ACTA1 PPP2R2B KLHL41 GLRA1 RAPSN SLC52A2 TWNK PAM16 HTT MYOD1 TSPOAP1 KLHL40 TPM2 MRPS16 POLG2 RRM2B LMOD3 GFM1 LAMP2 TH SLC25A4 MTM1 PDE8B ALG11 GBA HP_DEVELOPMENTAL_REGRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVELOPMENTAL_REGRESSION NDUFS1 GTF2I PCDH19 SATB1 SLC12A5 CACNA1A SCN9A DNM1L SYNGAP1 TBC1D2B GRIN2A ADAR GALC SCN1A SLC9A6 NDP PEX10 SYNJ1 CCR1 MBTPS2 PEX3 CLPB CUBN SLC39A14 NBEA CDK19 RHOBTB2 SPTBN1 SLC13A5 TNFRSF11A CACNA1B PIK3CA TGFBR2 FAS MFF STXBP1 SGPL1 PMS2 GABRG2 NAXE AGA PSAP MT-ND1 FGF12 SIN3A ARHGEF9 IFIH1 WASF1 SAMHD1 MLH3 MT-ND4 CNKSR2 MSH2 CARS2 CLTC KCNA1 PIGP TBL2 GABRB2 TRAPPC12 FOLR1 NTRK2 CLN5 MT-ND2 NGLY1 GABRA2 TRAK1 CACNA1E SCN2A CDKL5 SCN8A CASK PEX6 SLC1A2 SEMA4A NAGA ZNF699 NDUFC2 ADNP RANBP2 STAT4 AHCY FARS2 SIK1 WDR45 NCF1 ERCC4 EPRS1 FAR1 DNAJC30 UBTF NDUFV2 NRXN1 SUMF1 ERAP1 KCNT2 TPP1 SELENOI ADH5 ATP6V1A MECP2 NARS2 ACTL6B ROGDI BCL7B UBA5 POC1A ISCA1 ST3GAL3 DMXL2 DNM1 GABRB1 ARX BICRA PET117 NTNG2 ACER3 TRIM8 SLC25A42 MT-ND5 IL23R PLA2G6 ERCC5 PDE2A SDHAF1 PEX16 ELN TTPA TREX1 ATP7A HEPHL1 SERAC1 TANGO2 EIF4H PNKP ETHE1 SMPD1 ZBTB20 CYFIP2 NUP62 TBC1D24 MT-TK PARS2 TBCD DEAF1 AARS1 BUD23 SCN3A HTT CHD2 CTNNB1 CISD2 CLDN3 HNRNPH2 CIC EEF1A2 AIFM1 TRAPPC11 GCDH IL10 MED27 SLC30A9 POLR3GL WWOX TBCK ERLIN2 ADPRS FRRS1L SDHB GRIN1 FAN1 PPP3CA IRF2BPL CLN8 GRIN2D TMLHE VAC14 BSCL2 AMN SDHA FGF13 TRAPPC2L POLG TMEM270 NDUFV1 SLC29A3 IQSEC2 SDHD NDUFS4 PTCD3 BMPR1A MLH1 UBAC2 GRIN2B GTF2IRD1 EARS2 TYROBP KRAS COA8 GABBR2 NDUFS7 MEFV PHACTR1 KLRC4 PIGQ TCIRG1 HEXB GLB1 C4A ADA2 IDS NUP214 ARSA IBA57 STX1B MT-ND3 ACOX1 ADGRV1 PIGA FITM2 SCN1B HIBCH PCYT2 NACC1 KCNA2 DNAJC19 HPDL L2HGDH GABRD POLR3K EIF2B5 NECAP1 METTL27 TLR4 LYRM7 CELF2 PDSS2 PEX11B GLA KARS1 PEX14 IRX5 GNAO1 GFAP FOXG1 TREM2 KCTD7 HCN1 PEX26 SON RPS20 MT-TW RNASEH2B XPA IL12A-AS1 POLR3A NDUFAF3 AGTPBP1 EIF2B2 ARV1 RFC2 TANC2 GABRA1 ERCC2 XPC MT-ATP6 SLC19A3 MTRFR DDB2 GFM2 BOLA3 NEU1 TK2 GUF1 SLC25A22 PEX13 HSD17B10 AP3B2 NDUFS2 PEX1 SEMA6B RNASEH2C PEX12 KCNB1 NAXD CLIP2 MRPS34 COG8 PLCB1 COQ2 ABHD11 MMACHC RNASEH2A PMPCB GNB1 CAD NTNG1 NEUROD2 CNP NDUFAF6 CNPY3 MSH6 LAT2 COQ8A PEX2 PHYH STX1A AAAS GABRA5 EIF2B1 PEX19 HLA-B GLRX5 PEX5 SMARCAL1 SCO2 PAFAH1B1 DNMT3A SPTAN1 WFS1 EPCAM LIMK1 ATP5MK PYCR2 SMC1A PIGY BAZ1B HSD17B4 FDXR DHDDS ST3GAL5 UGP2 MT-TL1 PEX7 ASPA HACE1 IL12A PIGT COASY PMS1 LRPPRC KCNT1 YWHAG ERCC3 GTF2IRD2 EIF2B4 MT-ND6 FKBP6 CLDN4 VPS37D NUS1 NDUFB8 MLXIPL SURF1 MT-TV DALRD3 COX4I1 TUFM SZT2 ASAH1 GM2A EIF2B3 PLP1 TBCE GMPPA HP_HAND_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAND_TREMOR C19orf12 MARCHF6 ERLIN2 FGF14 TFG YEATS2 NEFL ADRA2B TSHR PDK3 TOR1A SMN1 GJB1 SAMD12 RAB3GAP2 DRD3 SMN2 MARS1 MFN2 SLC6A17 CTNND2 TAF1 ZFYVE26 NOP56 CNTN2 ABCB6 STUB1 ZFR GCK ANO3 HP_FASCICULATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FASCICULATIONS ATXN1 NDUFS4 PSEN1 VCP FUS NEFH MORC2 CCNF VPS13D DCTN1 EXOSC9 PNPLA2 TFG ASAH1 ATXN3 CHCHD10 AIFM1 MAPT SQSTM1 C9orf72 NOP56 ATAD1 SH3TC2 HEXB KIF1C VPS41 RYR1 TMEM106B FXR1 SPG11 HSPB1 FBXO38 GLA PFN1 NEFL HINT1 MINPP1 BICD2 CEP126 TARDBP GPHN TBCD SCN4A CHMP2B UBA1 VRK1 HNRNPA2B1 CPLANE1 OPTN SMN1 ANO10 HNRNPA1 CACNA1A SLC6A5 SCN1A SLC25A21 SCO2 SLC52A3 EXOSC3 PSAP ADPRS ERGIC1 TOE1 VAPB TBK1 VWA1 SOD1 TSPYL1 AGTPBP1 SLC52A2 ATXN2 ELOVL4 TREM2 KCNK9 GLRA1 SYNE1 GLRB UCHL1 AR SMN2 GRN ATP1A2 PRRT2 RMND1 PRPH LRSAM1 HP_APHASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APHASIA CFHR1 PALS1 JARID2 SEC24C PSEN1 MYT1L KMT2E CCDC32 TOMM40 L1CAM GRIN2A MT-TS1 CFH POLR1D COMT MT-TL1 DNM1L L2HGDH ZMIZ1 HCCS JMJD1C MT-ND6 TMEM106B WASF1 MAPT NTNG1 NF2 SCN5A NPPA C9orf72 COL1A1 CKAP2L ADAMTS2 WDFY3 RELN DEPDC5 ADA2 CYLD MT-CO2 HLA-DQB1 NPRL3 SORL1 ACTB TCOF1 MT-TS2 APP TIA1 TRIP12 KRAS SLC12A2 STS SVBP SMARCA2 NDUFB11 TANC2 SMARCAL1 ACTG1 MED27 GRIA4 POLR1B MT-ND1 ADAMTSL2 CHMP2B GRN TREM2 MT-ND5 FRRS1L CNOT3 CFHR3 ACTL6B KCNMA1 HIRA HNRNPA2B1 MT-TH TCF20 NOTCH3 VCP TBX1 PLEC HNRNPA1 CACNA1A SCN1A TCF4 HUWE1 KAT8 ABCA7 DPYSL5 MT-CO3 HS2ST1 BPTF GJB1 NSDHL PUS7 DDX6 PTPN23 UFD1 MED13 UBR7 EHMT1 MT-CO1 SQSTM1 AMER1 NTNG2 PSEN2 GP1BB DOCK3 MT-TF RLIM POLR1C ATRX ACTL6A RAI1 FA2H MT-TQ MAPK8IP3 COL1A2 HPDL ARVCF HTT UBTF BCORL1 LGI1 KDM4B COX7B MT-TW TREX1 TNRC6B PRNP RREB1 PSMD12 FLCN TRMT1 NPRL2 ATP1A2 TRAPPC4 PLP1 SATB1 OCRL FBXW11 AGO2 PRRT2 MT-ND4 FGFR1 MADD HP_INFECTIOUS_ENCEPHALITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFECTIOUS_ENCEPHALITIS PRF1 UNC93B1 IKBKG FAS ATRX TMEM70 TLR3 UBAC2 STXBP2 IL10 L2HGDH IRF3 TICAM1 HLA-B STX11 IL23R IL12A SH2D1A BCL10 STAT1 CD27 ERAP1 UNC13D BTK HYOU1 RFX5 MEFV DBR1 CCR1 LBR SLC6A19 KLRC4 XIAP STAT4 TLR4 NCKAP1L RFXANK IL12A-AS1 CIITA TBK1 C4A SNORA31 RFXAP CLTRN HP_FOCAL_IMPAIRED_AWARENESS_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_IMPAIRED_AWARENESS_SEIZURE GABRG2 GRIN2A GNB2 SCN2A MBD5 LGI1 SCN9A DNM1L SCN1B EPM2A SCN1A TLR3 CHAMP1 EPB41L1 TICAM1 DEAF1 NSD1 GNB1 BRSK2 CLTC CRIPT KCNQ5 VPS11 NBEA TANGO2 HIVEP2 CAMK2B STX1B KDM5B ADGRV1 NPRL3 CIC ATXN10 STXBP1 SCN8A CDH15 ARHGEF9 CACNG2 SETD2 TAOK1 PAFAH1B1 APC2 UNC93B1 GABRD KIRREL3 KCNQ2 FRRS1L ASH1L SYNGAP1 RAB11A DEPDC5 MICAL1 CSNK2B ZMYND11 FIG4 TRPM3 RELN NHLRC1 NUS1 MYT1L ATP6V1B2 TBC1D24 EEF1A2 CLCN4 TBK1 KIF1A PDE2A GRIN2B PNPLA8 HCN1 DOCK7 CPA6 GRIN1 GAMT MTOR SET GAL TSC2 PCDH19 SETD1B TCF4 CACNA1D FMN2 KCNB1 KCNQ3 MED12L CUX1 VPS35L CLN8 TRAF3 GABRA1 DOCK8 AP2M1 FGF13 PRRT2 CDH2 PPP3CA ACSF3 STRADA TSC1 NPRL2 TGFB1 DYNC1H1 DLL1 POGZ OPHN1 CAMK2A CEP85L HP_PARAPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARAPARESIS FA2H TTC19 ABCD1 C19orf12 CCDC88C FUS SLC25A15 RNASEH2C FAR1 ATP13A2 GALC GJB1 PLP1 ATP6AP2 SPG7 PRPS1 MTPAP COASY FUZ POLR3GL CHCHD10 SELENOI PI4KA MTRFR SPART SLC30A10 MICOS13 SDHAF1 SOX10 GJC2 C9orf72 RNASEH2B PPP1R15B NF1 RNASEH2A TBK1 SPG11 AIMP1 IDUA SDHB EDNRB TREX1 MTHFR MAG TRMT10A AFG3L2 MED13L PEX16 ADGRG1 SQSTM1 BCOR SRPX2 GJA1 VCP CLTC SDHA ARG1 IFIH1 SLC19A3 TARDBP SAMHD1 WDR45 TNFRSF11A POLG GOT2 ASAH1 GBA ADAR OPA3 CPT1C TBCE CYP27A1 SP110 PNP BTD SDHD SPG21 HP_CAVUM_SEPTUM_PELLUCIDUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAVUM_SEPTUM_PELLUCIDUM CPLX1 PACS1 NKX2-1 MUSK SPECC1L CTBP1 PPP1R21 TUBB2B PIK3CA RNF125 LRRC32 SETD2 PAFAH1B1 APC2 PCGF2 NSD1 LETM1 RBM8A MAPK1 NSD2 SMG8 MED25 PPP2R5D FGFRL1 ALG12 HP_EEG_WITH_POLYSPIKE_WAVE_COMPLEXES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_POLYSPIKE_WAVE_COMPLEXES KCNQ3 SRPX2 SYNGAP1 SCARB2 AGRN CHD2 AP2M1 PIGL PIGW GABRG2 SLC18A3 PSAT1 PIGO CSTB GABRD CILK1 SETD1B SYT2 MYO9A PRICKLE1 PI4KA EFHC1 SLC2A1 CACNB4 PGAP2 VAMP1 PIGY NEXMIF AKT3 SNAP25 SLC25A1 CHAT CLCN2 PIK3CA SLC6A1 SLC5A7 COL13A1 PIGV JRK SCN1A PGAP3 ADGRG1 GABRA1 HP_LOWER_LIMB_HYPERREFLEXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_HYPERREFLEXIA GJB1 VCP CLDN11 HPDL ST3GAL5 AFG3L2 UBE3A KIF5A NIPA1 DKK1 CYP2U1 ALDH18A1 SELENOI MT-TE SDHAF1 CAPN1 ZFYVE26 GCH1 MKS1 FTL FAR1 SDHB SACS HARS1 LARGE1 KDM5C FARS2 ARL6IP1 RUBCN OCA2 NONO USP8 GLUL ATL1 C19orf12 IBA57 DPM1 KY MECP2 SDHA IFRD1 TAF1 DLAT MSL3 KIF1A TSPOAP1 PSEN1 SUMF1 COX4I1 MTRFR TREX1 LBR KIF1C PDE8B SLC33A1 TH ATP13A2 SPG7 REEP1 PGM3 APOE SDHD HP_COGWHEEL_RIGIDITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COGWHEEL_RIGIDITY GABRG2 KCND3 ATP6AP2 TWNK STXBP1 GABRA1 SCN2A RAB39B TK2 NUP62 POLG ADAR SCN9A MT-ATP6 SLC19A3 SCN1B POLG2 RRM2B TMEM240 SLC25A4 MME GCH1 SCN1A DAB1 PCDH19 CP KCNA4 HP_STROKE_LIKE_EPISODE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STROKE_LIKE_EPISODE MT-ND1 PMM2 WFS1 MT-TS1 MT-TS2 MT-TQ MT-CO3 MT-TL1 MT-TK MT-ND6 DPAGT1 TTR PRNP MT-ND5 LRPPRC MT-CO2 MT-CO1 MT-TV MT-TW MT-CYB DPM3 MT-TC MT-TF NDUFA8 RFT1 MT-TH MT-ND4 STIM1 HP_POSITIVE_ROMBERG_SIGN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSITIVE_ROMBERG_SIGN PLD3 TBP NEFL POLG RFC1 MTTP TWNK MFN2 FLVCR1 RNF170 OPA3 KNSTRN PIK3CD POLR3A XRCC1 SH3TC2 HP_LIMB_DYSMETRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_DYSMETRIA RRM2B NF1 CYP7B1 KCNC3 SLC20A2 WASHC5 DAB1 GRM1 GBA2 PPP2R2B POLG RNASEH1 PDGFRB PDGFB HP_CEREBRAL_ARTERIOVENOUS_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_ARTERIOVENOUS_MALFORMATION SMAD4 RASA1 KRAS ACVRL1 EPHB4 ENG IL6 HP_AQUEDUCTAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AQUEDUCTAL_STENOSIS SF3B4 WDR73 NUP107 TPRKB L1CAM WDR4 FGFR2 NF1 NUP133 TP53RK CHD7 LAGE3 SEMA3E FANCB OSGEP SLC12A6 FGFR1 FUZ HP_MYOKYMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOKYMIA ADCY5 PNKD HINT1 MORC2 CACNA1G KCNQ2 ATP13A2 KCNA1 PPP2R2B SOD1 UCHL1 ABCD1 GSN SPTBN2 PRKCG TBCK HP_SPINA_BIFIDA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINA_BIFIDA LARGE1 SEC24C RORA IGF2 LMX1B GTF2I NF1 LFNG MAFB COMT BMP2 MEOX1 SUFU CCNQ GTF2IRD1 RIPPLY2 JMJD1C BRCA2 CLIP2 GDF6 POMT1 FUZ FANCE ABHD11 SC5D RAB23 ZIC1 H19 CHRNG RAF1 MYH3 CEP290 ELN WBP11 TMEM216 KCNH1 ACTB RUNX2 CUL7 FANCI EIF4H CCBE1 MESP2 LAT2 STX1A POMGNT1 SLX4 DACT1 DARS1 NSUN2 KANSL1 FANCA B3GALNT2 FLNB FREM2 MASP1 HES7 PORCN SIN3A FANCL PSAT1 BUD23 ALX4 METTL27 SALL4 POMT2 TBL2 NEK9 HIRA RFWD3 RECQL4 ARID1B OFD1 FKRP LIMK1 CLDN3 ERCC4 ATP6V1B2 PTPN11 FRAS1 PTCH2 TBX1 TBC1D24 BAZ1B TRIM36 FLNA GRIP1 XRCC2 FANCB INPP5E DLL3 NOTCH3 MAP3K7 PHGDH GLI3 SLC25A19 BRAF CREBBP UFD1 LIG4 COLEC11 AMER1 FIBP COLEC10 GDF3 FKTN MSX2 ZSWIM6 PUF60 WNT7A CSPP1 FLI1 GTF2IRD2 TBX6 GP1BB FANCF IRF6 VANGL2 IKBKG BMPER NCF1 FANCC KIAA0586 RFC2 FKBP6 ARVCF VANGL1 CLDN4 GMPPB DNAJC30 UBE2T B3GLCT VPS37D POLA1 FANCG MLXIPL CCL2 RAD51 PAX3 RREB1 TNXB EP300 BRCA1 TMEM270 SNRPB BCL7B RBM8A BRIP1 FANCD2 KCNQ1OT1 PTCH1 TBXT FANCM PALB2 CHN1 MAD2L2 NOTCH2NLC RAD51C HP_LEUKODYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEUKODYSTROPHY NDUFS4 FA2H NDUFS1 SURF1 PSAP RNASEH2C ACER3 ARSA POLR3A PEX1 NDUFAF4 NADK2 RNASEH2A NUBPL FBXL4 NDUFS7 ALG8 GJC2 NDUFAF2 DAG1 PET100 NDUFV2 DARS2 EDNRB TREX1 ADAR COA8 SPTBN1 NDUFA9 NDUFA12 IBA57 NDUFAF6 NDUFS2 ACOX1 NDUFB11 NDUFS3 AIMP2 NKX6-2 SDHB COX15 PLP1 TMEM106B NDUFA11 HSPD1 NDUFA10 PC GLRX5 IFIH1 SCO2 SAMHD1 SNORD118 MT-ND2 NDUFAF5 ISCA2 SLC16A2 GTPBP3 NDUFA2 POLR3B LIAS NDUFA13 NDUFV1 MTFMT NDUFA4 NDUFAF8 TMEM63A TUBB4A MT-ND3 ABAT NDUFAF3 POLR1C NDUFS6 SOX10 NDUFA1 RNASEH2B AIMP1 TIMMDC1 TACO1 SDHA PEX16 LIPT1 SLC19A3 FOXRED1 EPRS1 PYCR2 NDUFA6 NDUFB10 PLEKHG2 NDUFB8 MT-ND1 HIKESHI NDUFB9 TUFM COX6B1 NDUFS8 BOLA3 PNPT1 KARS1 NDUFAF1 NDUFB3 PDHA1 CTC1 ECHS1 TMEM126B SP110 LMNB1 FAM126A RARS1 ISCA1 HP_SUBEPENDYMAL_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBEPENDYMAL_CYSTS TXN2 GLUL PDHX PEX1 D2HGDH TUBGCP2 HP_ABNORMAL_MIDBRAIN_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MIDBRAIN_MORPHOLOGY MAPT KIAA0586 CC2D2A GAS1 CEP290 TMEM138 ARL3 INPP5E AHI1 TGIF1 SNCAIP KIF7 ATXN3 TMEM237 TCTN3 CEP120 FBXO7 ATXN8OS TMEM107 C2CD3 SPG11 GCH1 FTL ADH1C LRRK2 ZIC2 GLI2 CEP41 PTCH1 SHH TMEM216 SIX3 PRKN KIAA0753 CPLANE1 WDR45 EXOC2 B9D2 TMEM67 TCTN1 ARL13B DLL1 ZNF423 GBA C19orf12 PIBF1 RPGRIP1L FOXH1 GALC NR4A2 NPHP1 SLC35A2 MKS1 OFD1 SNCA ATXN2 TDGF1 NODAL VPS41 PDE6D TOGARAM1 CSPP1 GLUD2 TBP SUFU TMEM231 CDON FAM149B1 BRF1 ARMC9 CEP104 FGF8 TBCE DISP1 B9D1 SLC44A1 HP_MOLAR_TOOTH_SIGN_ON_MRI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOLAR_TOOTH_SIGN_ON_MRI TMEM107 PIBF1 KIF7 RPGRIP1L KIAA0586 CC2D2A INPP5E CEP290 TMEM138 ARL3 NPHP1 MKS1 AHI1 OFD1 CEP41 TMEM237 TCTN3 CPLANE1 CEP120 TMEM67 KIAA0753 PDE6D C2CD3 TOGARAM1 CSPP1 TMEM216 SUFU TMEM231 FAM149B1 EXOC2 B9D2 ARMC9 CEP104 TCTN1 ARL13B B9D1 ZNF423 HP_POOR_HEAD_CONTROL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_HEAD_CONTROL NDUFS4 IREB2 SELENON CACNA1A EXOSC9 SLC18A3 TPM3 ALG13 PTS HEXA NDUFS7 SLC18A2 RARS1 ASPA SYNJ1 PIGQ GEMIN4 CDK19 MYL2 SLC13A5 NDUFS1 SDHB SCN1B KCNA2 GABRG2 MYO9A MDH2 TRIP4 WARS2 CNKSR2 GM2A NECAP1 CLTC KCNA1 PIGP GABRB2 MEGF10 PIEZO2 CELF2 NTRK2 NGLY1 GABRA2 HACD1 TRAK1 GNAO1 INPP5E ACTA1 HCN1 TMEM63A PHACTR1 CDKL5 GABBR2 NDUFAF3 GALC MYPN CASK SLC1A2 GMPPB PIGF NACC1 NDUFA8 PCLO PLP1 COL13A1 AHCY FARS2 DPM2 SIK1 FOXRED1 CACNA1G UFC1 NONO TPM2 NDUFA10 ARV1 CLP1 NDUFA6 NDUFB10 RARS2 NDUFV1 FGF13 MT-ND1 SYT2 NDUFB9 ATP6V1A FKBP14 ACTL6B SLC25A1 BOLA3 PNPT1 NDUFS8 NDUFAF1 ALG2 SLC25A22 UBA5 LMNA SLC5A6 ITGA7 HSD17B10 AP3B2 DMXL2 DNM1 SNAP29 COLQ ALG14 TRIM8 KCNB1 NDUFAF4 GPHN AP3D1 COG8 SCN2A MPZ SDHAF1 NDUFAF2 DAG1 SNAP25 CHAT NDUFV2 PMPCB POMK NEUROD2 PNKP SUCLG1 NDUFB11 GABRA5 AGRN NDUFA11 CYFIP2 SLC35A2 CACNA1B PARS2 PAFAH1B1 MT-ND2 GRIN2A NDUFAF5 AARS1 SCN3A DHX16 SLC39A8 EEF1A2 LGI4 DPAGT1 SPTBN4 MYH7 NDUFS2 DHDDS NDUFAF8 MICOS13 SCN8A SLC16A2 STXBP1 MT-ND3 EXOSC3 GNB5 NDUFS6 ARX EBF3 WWOX YWHAG VAMP1 NDUFA1 SYNGAP1 FGF12 TIMMDC1 GFM2 MRPS25 RALGAPA1 NUBPL NDUFS3 GFPT1 GRIN2D PPP3CA SDHA NUS1 NDUFA13 PET100 ELP2 DALRD3 COX4I1 MAP3K20 TTN DHFR LAMB2 SZT2 PSAP NDUFB3 SLC5A7 TMEM126B TREX1 SDHD HP_LONG_TRACT_SIGNS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_TRACT_SIGNS MPO APP NOS3 APOE CYP27A1 PLAU HFE GTF2E2 TNFRSF11A HP_ANARTHRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANARTHRIA SIGMAR1 FA2H DNAJC6 ALS2 ATP13A2 FTL FAR1 SPG11 TBCE ALDH18A1 FUS PODXL SYNJ1 UBA1 HP_EXPRESSIVE_APHASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXPRESSIVE_APHASIA MAPT GRN NPRL3 FA2H TMEM106B C9orf72 NPRL2 CHMP2B DEPDC5 VCP GJB1 PSEN1 TREM2 HP_MENINGOCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MENINGOCELE LARGE1 FRAS1 TBX1 SEC24C IGF2 FLNA GRIP1 INPP5E DLL3 LFNG COMT NOTCH3 RIPPLY2 GLI3 JMJD1C POMT1 UFD1 FUZ SC5D FKTN H19 MSX2 CEP290 ZSWIM6 TMEM216 WNT7A CSPP1 GP1BB MESP2 VANGL2 BMPER POMGNT1 KIAA0586 DACT1 ARVCF VANGL1 B3GALNT2 GMPPB FREM2 CCL2 HES7 PORCN SIN3A PAX3 ALX4 RREB1 SNRPB POMT2 HIRA KCNQ1OT1 OFD1 FKRP TBXT HP_OCCIPITAL_MENINGOCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCCIPITAL_MENINGOCELE TBX1 SEC24C HIRA JMJD1C RREB1 GP1BB INPP5E UFD1 WNT7A ARVCF COMT HP_CEREBELLAR_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBELLAR_MALFORMATION LARGE1 SEPSECS HMGA2 GPC4 GTF2I WDR73 BUB3 BUB1B SIX3 AHDC1 ERF POMT2 FLVCR2 TMEM231 FBN1 GTF2IRD1 POLR3A EBP FKRP FGFR1 PDHA1 VPS51 DKK1 KRAS PIK3CA NPHP3 OFD1 SC5D STIL ZIC1 TCTN3 GLI2 NUP88 C2CD3 FOXF1 TMEM216 FGFR3 KCNQ1OT1 SH2B1 POMT1 FGFR2 ZIC2 POMK DYNC2I1 BCOR DAG1 TCTN1 MAN2B1 ATP6V0A2 IFT80 KANSL1 ZEB2 SNX14 CSPP1 SLC39A14 DHDDS RRAS2 DYNC2I2 PSAT1 PTH1R DPF2 LAMA1 FTO TMEM67 METTL27 TBL2 CRPPA SEMA3E ARID1B DYNC2H1 EP300 ATP6V1B2 SMARCB1 CWC27 PIGN PPP1R12A NOTCH3 MKS1 GRIA3 MAP3K7 SLC35A2 MAF SON TUBB SHH SIK3 SMO DOCK6 PPP1CB RFWD3 ZSWIM6 GPC3 POMGNT1 HRAS RPGRIP1L POMGNT2 CDC42 SMARCA2 NONO AFF3 NCF1 LONP1 KIAA0586 RFC2 B9D1 ASXL1 SMARCC2 FAR1 NFKB2 DNAJC30 IGF2 MYOD1 NRAS PHEX TSEN2 KIF7 DPH1 SALL1 DISP1 SETBP1 SMARCD1 ATP6V1A ALG3 FGF8 CHD7 BCL7B TXNDC15 EVC2 B4GAT1 OPHN1 ARID1A TMEM237 TBL1XR1 TMEM107 SOX4 BICRA ARID2 FANCI BUB1 SLC18A3 USP9X CLIP2 POR ABHD11 PLG PTCH1 CDC45 AP1S2 NID1 WDR35 DOK7 NOVA2 CEP290 ELN DENND5A SMARCE1 RPGRIP1 COL3A1 NOTCH2 EIF4H COL4A1 B3GALNT2 FKTN WDR81 LAT2 STX1A CCDC22 CREBBP B9D2 CDKN1C DNMT3A FUZ DHCR7 PORCN SMARCA4 MLXIPL BUD23 TGFBR1 CPT2 VANGL1 SETD2 B4GALT1 EVC PIEZO2 DACT1 LIMK1 CLDN3 WASHC5 HYLS1 PMM2 TBC1D24 BAZ1B MUSK PAX2 PHGDH EXOSC3 KCNQ1 SMG9 CEP57 CC2D2A DPYSL5 CEP120 MAB21L1 GTF2IRD2 TGFBR2 TONSL LEMD3 SKI GLI3 ATP6V1E1 FLNA RAPSN TSEN15 GMPPB FKBP6 GNAQ CHD4 GRM1 CLDN4 VPS37D TRIP13 TMEM138 MT-CYB TCTN2 ARMC9 TSEN54 TMEM270 RXYLT1 NFIA RNF113A TSEN34 SOX11 HP_DYSCALCULIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSCALCULIA SQSTM1 TMEM106B PSEN1 HNRNPA1 FUS VCP TREM2 MAP1B PNKP C9orf72 SRY SETD2 TARDBP APC2 GRN CHCHD10 CACNA1A CHMP2B MAPT TBK1 NSD1 HNRNPA2B1 FMR1 HP_HYPOTHALAMIC_HAMARTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOTHALAMIC_HAMARTOMA CPLANE1 KIF7 GLI3 TCTN3 SMO TMEM216 PDE6D VPS16 FAM149B1 OFD1 SOX2 KIAA0753 SIX6 HP_TETRAPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TETRAPLEGIA ALDH18A1 GABRA3 CACNA1S ATP1A2 NHLRC2 TFG AIFM1 MRAP BCAP31 ATP1A3 KRAS ARX TRAPPC2L PRPS1 NADK2 TBCD PAFAH1B1 KCNT1 GALC KCNJ18 ALS2 ARSA DPYD NDUFA8 MC2R PRF1 STAR RANBP2 NNT PNKP FGFR1 TXNRD2 HP_ASTROCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASTROCYTOSIS TMEM106B PSEN1 SLC30A10 TREM2 ERCC6 NUP62 ADAR PRNP MT-ATP6 GRN SQSTM1 LAMA2 MAPT CHMP2B POLG C9orf72 TSC1 VCP MTOR ERCC8 STRADA TSC2 HP_PROGRESSIVE_ENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_ENCEPHALOPATHY BSCL2 NADK2 HTRA1 TH TBCE GLYCTK SUCLA2 TSPOAP1 TREX1 WDR45 HP_LIMB_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_DYSTONIA DLL1 FOXH1 THAP1 SHH TDGF1 STAG2 YIF1B CDON SMC1A PTCH1 VPS16 COL6A3 TUBB4A ZIC2 GLI2 COX20 BSCL2 GAS1 SLC18A2 SIGMAR1 ARX CKAP2L GCH1 FTL FGF8 NODAL FITM2 DISP1 SIX3 VPS37A TSPOAP1 JAM2 PRKRA FGFR1 VPS13A ATP1A3 WARS2 HPCA SLC6A3 TH SPG11 CYB5R3 ANO3 GCDH GNAL VPS13C PARK7 ALS2 PNPT1 GFM2 COL4A1 TGIF1 PANK2 DLAT SYNE1 CYB5A SPATA5 TAF1 MAPT DDC FUS AFG3L2 HP_ABNORMAL_GLOBUS_PALLIDUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GLOBUS_PALLIDUS_MORPHOLOGY PANK2 FA2H C19orf12 NDUFS2 MMUT VPS41 GCDH SLC30A10 FTL KCNQ2 DLAT VPS16 CYP2U1 COASY CYP27A1 NDUFAF3 NDUFB8 SCO2 PLA2G6 POLR2A SURF1 SLC44A1 HP_ABNORMAL_HEAD_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HEAD_MOVEMENTS JRK FMR1 DLAT GPR88 PEX10 NKX6-2 HIBCH PLP1 TMEM63A UCHL1 GABRB3 GABRA1 LMNB1 VPS13A GABRG2 PRNP CACNA1A CACNA1H GJC2 SIGMAR1 LAMA1 EIF2AK2 SLC2A1 ALS2 PIGT SPG11 GAMT KIF1C FUS NAA10 MAPT VAMP1 SPTBN1 HP_DISTAL_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_MUSCLE_WEAKNESS SARDH ERLIN2 FUS MPV17 PNKP GNE TRPV4 SLC18A3 MED25 LITAF CHCHD10 MTMR2 EGR2 NEFL DHH MYBPC1 PNPLA6 MFN2 GIPC1 SIGMAR1 HARS1 MME GCH1 SH3TC2 TTN MPZ TRMT10A NUTM2B-AS1 HMBS GAN VCP SPG11 PRPS1 RYR1 GYG1 GDAP1 ANO5 MYOT YARS1 FLVCR1 DES LMNA XRCC1 SPTLC2 TARDBP PMP22 MYO9A VPS13A HADHB INF2 GMPPB MYH7 DYNC1H1 NDRG1 CPT1C VHL TDP1 LDB3 TNPO3 PRX DYSF TPM3 CACNA1A SCN1A MAPT MORC2 KIF1B SLC25A21 MAP3K20 TIA1 GRIA3 CRYAB C19orf12 DCAF8 SCYL1 KLHL9 MTRFR IGHMBP2 GARS1 SOX10 CPOX SBF2 RELA PPP1R15B TBK1 HSPB8 SLC5A7 COL13A1 ATL3 BIN1 AFG3L2 PLEC HSPB3 SETX PLEKHG5 TYMP PABPN1 ELOVL5 NEB REEP1 COL12A1 ABCA1 SYT2 HINT1 SORD SLC25A1 FBLN5 ATP1A2 TK2 GTPBP2 ALG2 COL6A3 FIG4 LRSAM1 AIFM1 ATXN1 RRM2B RAI1 COLQ VPS13D ALG14 PNPLA2 MYH14 HADHA MT-ATP6 ABCD1 DNM2 DMPK FGD4 SNAP25 AARS1 CHAT DARS2 SACS CHP1 POLG ACTN2 CAV3 SQSTM1 HSPB1 RAB7A MATR3 IBA57 AGRN COL6A2 ADSS1 HNRNPA2B1 TCAP UBA1 JPH1 FLNC BSCL2 HNRNPA1 DPAGT1 MYH2 COA7 ACTA1 COL6A1 GJB1 ATL1 VAMP1 C9orf72 ALS2 VAPB RFC1 PTRH2 VWA1 NAGA ZC4H2 ZFTA EXTL3 HK1 GFPT1 ANG ATP7A MTTP SPTLC1 DCTN1 BICD2 DGUOK LAMB2 PRRT2 ATXN3 LRP12 HP_DENSE_CALCIFICATIONS_IN_THE_CEREBELLAR_DENTATE_NUCLEUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DENSE_CALCIFICATIONS_IN_THE_CEREBELLAR_DENTATE_NUCLEUS ERCC6 ERCC8 PDGFRB SLC20A2 PDGFB HP_LANGUAGE_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LANGUAGE_IMPAIRMENT CCDC32 TOMM40 SATB1 PIGA TENT5A CCDC47 CACNA1A NUP107 HERC2 GATAD2B SFXN4 EIF2S3 CAMK2B ALG13 NSUN2 ATXN3 GRIK2 INPP5E SLC9A6 KANSL1 AIMP1 SRPX2 GRIN2A SLC6A8 TNRC6B ASH1L GRID2 DLL1 GABRB2 TDGF1 WDFY3 KMT2C WASHC4 TSPAN7 CTNNA2 PPP2R5D MYO9A STRADA NBEA CDK19 DCPS RHOBTB2 SLC13A5 NFE2L2 CACNA1B ANKRD11 UBE4A AIMP2 MSTO1 SPEN PUS3 MAP1B SIX3 AGA ZEB2 NEXMIF FGF12 CDK13 SIN3A ASPM EXT2 ZSWIM6 VLDLR RSRC1 COG4 MDH2 COG8 GRHL3 CNKSR2 ASXL2 CARS2 FOXH1 SLC6A1 FGF8 KCNMA1 KATNB1 TUBB3 ARF1 TP63 LIPT2 NTRK2 SNRPN SLC25A46 NGLY1 TRAK1 PHKG2 HUWE1 ABCA7 CCDC39 ACADS GPT2 USP7 GLI2 PRKCZ ERMARD PLAG1 OTUD6B SLC1A2 DYNC2I2 SYP SGCB PIGP FLNA NDN CCDC174 DLG3 RSPRY1 NDUFA8 GNAS STXBP1 VPS41 PLP1 PAK3 ALDH5A1 LIG4 HNRNPU CTCF EFTUD2 EHMT1 CFAP418 FKRP MED13 EEF1A2 FMN2 KCNB1 OSGEP GAS8 TMEM106B CLIC2 GRIN2D TGIF1 KIF15 PUM1 RARS2 BRCA1 B3GALNT2 CLP1 DNMT3A SELENOI ATP6V1A COG5 EIF2AK2 GNS SMARCA2 TBK1 VCP NF1 DNAH5 PTCH1 GJB1 PSEN1 DISP1 SCN1A IQSEC2 UBA5 FTSJ1 ARID1A ACSL4 ZNF711 ADNP JARID2 SPEG TBL1XR1 MID2 DNM1 ARID2 NTNG2 SHH SLC6A3 UBE3A ALG11 RSPH4A MAPRE2 ZMIZ1 MACF1 COG1 PGAP1 KDM5C PRNP DNAH9 CDK10 SRCAP WDR81 KIAA1109 UBB NSD1 ARHGAP29 ARID1B RPS6KA3 GRM1 NODAL ZNF142 SLC2A1 SERAC1 TANGO2 LMX1B TTC12 PACS1 HMGA2 SLC33A1 KIDINS220 USP27X APP CTBP1 PACS2 NONO NEK1 SVBP VPS37A CYFIP2 NUP62 TOR1A TMEM94 TANC2 AASS PPP2R1A CCDC65 MED27 BPTF DEAF1 AARS1 HNMT GOT2 SCN3A KAT6A ARL13B HTT DPYS RAI1 ATG7 SNORD116-1 MED12 CRADD HNRNPH2 GNAO1 PMM2 SPTBN4 SETD5 CLDN11 FIG4 ODC1 ACOX2 IGF1R HIVEP2 TIMM50 SLC12A2 SYNGAP1 TBX4 SIM1 HSPG2 PRPS1 TBCD EXOSC3 BCL11B TCF4 PLA2G6 WWOX ERLIN2 ODAD3 BTK CAMTA1 MYT1L PWRN1 MEG3 KDM5B AUTS2 FKTN RFC1 DPYSL5 PIGO DNAAF3 SDHB KNL1 RALA CASK SATB2 USP9X MKRN3 DOCK3 PWAR1 PPP3CA NARS1 EXTL3 QRICH1 COG6 ADAT3 ATP6V1E1 CLCN4 CLN8 TREM2 KCNH1 AMN SDHA TOE1 TRAPPC2L NCDN KLHL15 INTS8 MRPL12 ELP2 ARX DAG1 DALRD3 RTL1 VPS11 LAMA1 TWIST2 HOXA2 TBX1 MN1 PDPN KYNU ZBTB18 NXN RPL10 REPS1 IREB2 GAS1 AHDC1 FAR1 ODAD2 EARS2 COA8 KMT2A KCNQ5 ADGRG1 CAMK2A ZNF41 TRIP12 NFIX EMC1 TRIO BMP4 ADSL KDM1A PPP2CA APC2 PGK1 STAT4 ZNF81 HOXB1 FTCD NSDHL LSS TELO2 ATP6V0A2 CPLX1 CHD2 TBCK KCNA2 LRPPRC PCYT2 CCNO RAC1 DRC1 MECP2 DHDDS GORAB FGFR1 ZC3H14 ISCA2 TRIP4 MBD5 NAA15 EED ANK3 MED23 EZH2 MAPK1 TH SEC23A MADD AUH WDR62 CELF2 NOTCH3 PSMD12 CUL4B SPEF2 CLIP1 CHKB LMNB2 ACBD5 FOXG1 HS2ST1 SMAD6 HCN1 RORB ZC4H2 METTL23 CWC27 CUL3 VPS4A UBE3B PUS7 PRSS12 C19orf12 ACTL6B MPDU1 NACC1 TUBA8 WDR45B PIGS TUBB IQSEC1 CDC42 EN1 LUZP1 RLIM KDM4B RTTN DPYD ACTL6A ARV1 PTEN MAPK8IP3 TTN RSPH1 FOXP2 TAF1 HS6ST2 ATP1A3 FGF13 MT-ATP6 GALT CRKL FOXP1 PDE4D NME8 TET3 BCORL1 TKFC MFSD8 WAC ORC6 ODAD4 DDX6 NEMF RAB11B MAN1B1 TBC1D24 IFT172 DNAH1 STAG2 SH2B1 KMT2E ARHGEF6 MRPS34 ALDH18A1 ERCC2 EDC3 SCN8A MTFMT OPHN1 DCC DARS2 NLGN3 SMARCE1 COL3A1 IGF2 UFM1 DNAAF1 WDR26 GABRA5 CREBBP MRAS EP300 UGT1A1 GRIA4 LTBP4 MTPAP SLC35A2 PRKRA ZIC2 SPAG1 SMARCA4 SOX5 SMC1A TCTN2 WARS2 ANKRD17 SETD2 SPP1 DNAL1 PYCR2 MAPT NECTIN1 GAS2L2 SETBP1 YY1 PIGY STEEP1 DNAAF6 ALG14 TBC1D23 VPS33A FRMD4A NALCN IL1RAPL1 WIPI2 PI4KA YWHAG MBOAT7 BIN1 GALNT2 POMT1 NDUFA4 RALGAPA1 SOD1 RAB3GAP2 CCDC40 CSPP1 ASPA METTL5 GNE ALDOA FMR1 PPIL1 DYRK1A BRAT1 RNF125 POR NUS1 LAS1L DLG1 OFD1 AP3B2 ACSF3 ALDH7A1 SZT2 MCOLN1 TTI2 KCNJ10 RMND1 CCDC88A LARGE1 SNX14 ZMYND11 TREX1 STK36 MRE11 LMNB1 CNTNAP2 B3GALT6 CFAP221 POU3F3 DNM1L PEX1 INTS1 ARL6 ADAR AMMECR1 PTS EXOSC2 TRPV6 SPOP MMP23B SQSTM1 SF3B4 SYNJ1 LINGO1 MCTP2 C2CD3 CUBN GEMIN4 SARS1 SLC9A7 RUBCN ATP6AP2 SPTBN1 TBCE GRM7 DHX30 DNAJB13 MAN2B1 FRMPD4 DLK1 UFSP2 NDST1 CDKN1C PTCHD1 STAG1 WDR37 KIAA0753 WASF1 ADK PRKD1 PPM1D PRODH CLTC ODAD1 CHAMP1 SHANK3 TRAPPC9 RSPH3 NEDD4L PYCR1 SYT1 ERF FBXO11 GABRA2 ITPR1 CACNA1E ATP1A2 CRBN CARS1 RERE GABBR2 PTPN23 SMS SMARCC2 UBR7 BBS1 WDR4 TECR PPP1CB SPATA5 ALMS1 DNAH11 MKS1 UNC80 RNASET2 DNAJC12 FARS2 DPM2 MED12L CDH1 IFIH1 KIAA0586 GMPPB ACADM HPDL ASXL1 CRAT UBTF MORC2 TP53RK TPP1 BCR PNPT1 DMD RPGR AGO2 SETD1A CEP63 FRRS1L DYNC1I2 SHROOM4 CNNM2 PURA CWF19L1 SLC25A42 YIF1B GMNN INTU LRRC32 MEF2C DNAAF2 TLK2 PDE2A RAB39B IARS1 COX20 BSCL2 TMTC3 DHTKD1 GPAA1 PHKA2 SET PMPCA SDHAF1 GRIA2 GDI1 NOVA2 TRAF7 DENND5A LINS1 NIPBL DNAAF4 OCA2 PRKAR1B PBX1 CDON DPAGT1 HERC1 CCND2 IRAK1 TSPOAP1 UBE4B PARS2 RUSC2 DNAI1 KIF5C NEK10 GABRG2 CNOT3 MAGEL2 TCF20 PRKAR1A GAMT SLC17A5 DCX HNRNPA1 KAT8 CLN5 GNB5 TUBB4A PHF8 XRCC4 YME1L1 RYR1 SLC45A1 SIK1 UPF3B PSEN2 SIAH1 PUF60 GFM2 ZNF462 LEMD3 GSX2 ACOX1 SLC1A3 TBC1D20 TMLHE ZNF292 VAC14 TSHR ATP10A AFF2 COPB1 CBL TRMT1 GATM ARMC9 TM4SF20 CSNK2A1 TRAPPC4 CC2D1A FBXW11 KCNA1 LRRC56 PHF21A SOX11 CNOT1 SDHD RORA THOC2 WDR73 BRWD3 GRIN1 RRP7A NCAPD2 POMGNT2 C12orf4 ATP5F1D NTNG1 DYM FLII TNIK BMPR1B PIGG TENM3 PIGV TPRN FBXL3 MED25 RIMS2 AGTR2 CCDC28B GALE ADARB1 PGAP2 GLS UBE2A TBC1D7 ATAD3A POLR3K GRN SPTBN2 EMC10 DPF2 NECAP1 C9orf72 CNOT2 SHMT2 MCM3AP BRPF1 XYLT1 DLX4 WDR45 NLGN4X SMARCB1 LMAN2L KARS1 IRF6 CHMP1A GRIA3 SLC25A12 THRB TMCO1 SETD1B MFSD2A AMER1 PIGF ST3GAL3 TRAPPC11 TOGARAM1 MYRF ALDH4A1 HK1 KAT6B SOBP MED13L UFC1 PLAA TKT MSL3 UQCRQ LNPK TTC5 FBXO31 SMARCD1 GLYCTK TMEM231 FLCN TINF2 TBR1 DNAAF11 CFAP298 ADD3 POGZ HYDIN EZR SLC44A1 PALS1 HSD17B10 SOX4 TAF2 ACAD8 SEMA6B GNPTAB L1CAM AP2M1 PAK1 PCDH19 NRAS AIFM1 TRAPPC14 KIF4A FANCF SLC1A4 SPR MCIDAS PMPCB GNB1 KMT5B GRIN2B PRMT7 NCAPG2 MSX1 SORL1 KCNAB2 PIGW CFAP300 KCTD7 ASXL3 ALKBH8 DEGS1 FOXJ1 PAFAH1B1 ZMYND10 POMT2 MRPS14 LRP5 KPTN HNRNPA2B1 SKI KCNA4 TRRAP AP4B1 FDXR DNAI2 CHD3 NR2F1 MESD ST3GAL5 PIGC UGP2 SLC16A2 HNF1B EBF3 KDM3B IFT74 FIBP SPART CASZ1 PIK3R1 RSPH9 PRDM16 MFF LHX1 BBS9 HACE1 CCDC103 YARS1 ALG12 MEIS2 KIF1A SPARC NDE1 THOC6 TRIT1 DNAAF5 NPAP1 FBLN1 HIKESHI SLC6A17 HCFC1 PSMG2 CHMP2B TUSC3 GEMIN5 GABRD LAGE3 SNORD115-1 PIGN HP_SPASTIC_DYSARTHRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_DYSARTHRIA GJB1 MARS2 AP4B1 MAPT AP4M1 AP4E1 SPG7 RAB3GAP2 GLRX5 ALDH18A1 PRNP GBA2 ERLIN2 ALS2 ATP2B3 SPART PEX6 FAR1 ATXN8OS MAG AP4S1 AFG3L2 TDP1 POLR3A VAMP1 HP_POOR_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_SPEECH SARDH SMARCA2 PSEN1 DLL1 TRAPPC11 NDUFS1 TAF2 CNTNAP2 WDR73 RAB39B GATAD2B PTCH1 EIF2S3 NAGS APC2 NSUN2 C12orf4 ZIC2 HNRNPK SASS6 GRIK2 SLC6A17 KANSL1 TRIO DYM AIMP1 GATA4 MTO1 MAPT ASPA MMP23B C9orf72 ZNF41 TDGF1 FGF8 CLTC WASHC4 TRMT10A AP4S1 KCNQ5 PPP2R5D VPS11 RTTN NBEA SARS1 SLC9A7 HIVEP2 SNRPN INPP5E ZNF81 GRM7 KDM5B FBXL3 UBE4A SMC3 SPEN TELO2 DISP1 FRMPD4 PUS3 MED25 TBCK SIX3 ZEB2 UFSP2 AP4E1 NDST1 AGTR2 PTCHD1 CDH15 FGF12 UBE2A VLDLR RAC1 ARX FGFR1 ADK ZC3H14 LINS1 FTSJ1 PAK3 GAS1 MID2 KCNMA1 NDUFA6 TECR FOXH1 MED23 DAG1 CSNK2B ZMYND11 MTHFS TRAPPC9 TUBB3 TRPM3 MYT1L WDR45 NALCN SYT1 VCP IQSEC1 LMAN2L ZNF148 GLI2 NODAL STXBP1 NGLY1 CLIP1 CHKB STAG2 CHMP1A GUSB CRBN METTL23 RERE PRKCZ SLC19A3 PRSS12 FRMD4A MAN1B1 TSC1 KCNK4 SYP DLG3 ST3GAL3 TSC2 SHH PPP1R15B DOCK7 GAMT RNASET2 EXT2 DCPS SOBP MED13L CDC42 LUZP1 SETD1B NONO FMN2 AP1S2 FKRP KIF14 CUX1 TGIF1 KIF15 CLIC2 FOXP2 HS6ST2 ATP6V1B2 B3GALNT2 GRN TTC5 ALG9 FBXO31 ATP6V1A FOXG1 RSRC1 MRPS2 CDON DMD HDAC8 CNNM2 FRRS1L EZR OPHN1 ACSL4 ZNF711 CNKSR2 GNPTAB POMT2 DIAPH1 MBD5 UBE3A SMC1A ARHGEF6 PAK1 COG8 NUBPL EDC3 PGAP1 CHSY1 EGF SET UNC80 GJC2 CHAMP1 EPB41L1 GDI1 TRMT5 DEAF1 POMK BRSK2 CAD RPS6KA3 SNAP25 PIGH CSF1R HEPHL1 FOXRED1 ALG13 CAMK2B PLPBP OCA2 TMEM106B MECP2 SLC35A1 DLAT KCNAB2 USP27X CCDC22 SLC39A14 CIC RLIM ALKBH8 UQCC2 PPP2R1A CACNG2 PIGC TAOK1 UBE4B GMPPB KIRREL3 CHMP2B LAS1L HNMT TNIK TSPAN7 ASH1L SYNGAP1 RAB11A CTNNB1 KAT6A MED12 SLC39A8 PYCR2 SKI TRRAP IQSEC2 FDXR GPR88 ODC1 AP4B1 STEEP1 EEF1A2 SLC12A2 ATAD3A TUBB4A KIF1A HSPG2 TBCD LARGE1 LRPPRC GRIN2B IL1RAPL1 WIPI2 SQSTM1 ADPRS CASZ1 MBOAT7 PRDM16 SLC45A1 UPF3B GRIN1 SATB2 USP9X TCF4 ATP6V1E1 POMT1 CLCN4 DYRK1A MED12L AP4M1 TREM2 DOCK8 TAF6 NCDN BRF1 ATP10A NDUFA13 HCFC1 PPP3CA ATP6V0A2 TUSC3 CC2D1A DYNC1H1 CRADD GABRD PDPN NEMF CAMK2A HP_NONPROGRESSIVE_CEREBELLAR_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NONPROGRESSIVE_CEREBELLAR_ATAXIA NADK2 ATP2B3 ATCAY CAMTA1 ITPR1 ABCB7 FRMD4A CWF19L1 DNAJC19 HP_SMALL_CEREBRAL_CORTEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_CEREBRAL_CORTEX CENPJ CDK5RAP2 ZNF335 TCF4 MCPH1 CDK13 KIF14 ASPM HP_EXPRESSIVE_LANGUAGE_DELAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXPRESSIVE_LANGUAGE_DELAY PTCH1 DPYD GNPTAB GAS1 RAI1 SHH SIX3 ASXL1 AHDC1 FOXH1 SDHA GRIA3 FOXP2 ZEB2 TAF1 CDON HERC1 TGIF1 SPATA5 TDGF1 FOXP1 NODAL RSPRY1 SDHAF1 SRCAP FLCN NSD1 SHMT2 FGF8 DLL1 GNB1 SDHB PUF60 TUBB3 YARS1 ARID1B EHMT1 DISP1 ZIC2 SH2B1 POGZ GLI2 GNE KMT2C SDHD HP_MYELOMENINGOCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYELOMENINGOCELE FRAS1 IGF2 FLNA VANGL2 GRIP1 BMPER DACT1 VANGL1 GLI3 FREM2 FUZ CCL2 HES7 PORCN SIN3A SC5D ALX4 H19 PAX3 MSX2 SNRPB KCNQ1OT1 OFD1 TBXT HP_PRIMITIVE_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMITIVE_REFLEX MME NGLY1 TYROBP DCTN1 ATP13A2 ST3GAL3 TREM2 HADHA ALDH18A1 JPH3 GLRB HADHB PSEN1 GM2A SPG21 CTSF DPM2 DNMT1 MAPT TUBB3 PIEZO2 HP_PROGRESSIVE_SPASTIC_QUADRIPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_SPASTIC_QUADRIPLEGIA PLAA NADK2 ARG1 FA2H ATP13A2 PLP1 ARSA ACP5 GM2A PSAP PAFAH1B1 SPTBN1 HP_HEPATIC_ENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATIC_ENCEPHALOPATHY NBAS XIAP EIF2AK3 SLC25A13 RINT1 SH2D1A PCK1 RYR1 DLD ALMS1 HP_BULBAR_SIGNS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BULBAR_SIGNS TPM2 PLAA MT-ND3 SLC1A3 SPG11 MT-ND2 MATR3 CACNA1A NEB SLC39A14 GFAP ARSA ATP1A2 MT-TL1 MT-ND5 GBA ACTA1 MT-ND1 TFG GSN MYPN ATP1A3 MT-TK ATXN1 MT-TV KBTBD13 MT-ND4 SIGMAR1 MT-ATP6 MT-TW FIG4 ALS2 RYR1 KLHL41 PSAP TPM3 MT-ND6 CHCHD10 REEP1 FUS PLA2G6 HP_MYOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOTONIA SYNE2 HINT1 LIFR SCN4A DNAJB6 CLCN1 TTI2 VMA21 UCHL1 CAV3 PURA TMEM43 CNBP HSPG2 CAVIN1 PFKM CACNA1A DMPK SVIL FHL1 SGCG SYNE1 LMNA ANO5 ACTA1 KCNA1 EMD HP_HYPERKINETIC_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERKINETIC_MOVEMENTS NEUROD2 GAD1 HSD17B10 THOC2 TRAPPC11 SCN1A CACNA1B NGLY1 CACNA1E GRIN2A PYCR2 PDE10A GNAO1 GRIN1 PNKD SLC9A6 GCH1 PSAP SUCLG1 PTS YME1L1 VPS13A FRRS1L FOXG1 ALDH5A1 SLC6A3 IQSEC2 SUCLA2 RTTN ZNF142 SYT1 GNE PRRT2 HP_ACUTE_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_LEUKEMIA RPS28 BRCA2 RPS15A SH3GL1 ATRX BUB3 SRP54 RPL27 BUB1B GFI1 BUB1 ADA2 SAMD9L RPL18 KRAS DYNC2LI1 EVC WAS TYROBP KIT TET2 IKZF1 DNAJC21 MPL RPL35 NSD1 SBDS RPL35A GLI1 NPM1 RUNX1 MSH2 GATA1 NBN FLT3 TAL1 ETV6 DDX41 NSUN2 STS TP53 NUP214 LIG4 RPL15 TSR2 RPS19 SETD2 SAMD9 APC2 PICALM ABL1 RPS7 JAK2 GATA2 MEFV RPS27 PIGL ASXL1 TERT TAL2 NUMA1 RPL11 DNMT3A CHIC2 TREM2 WIPF1 CHEK2 EVC2 RPS20 THPO RPL5 SH2B3 CEP57 BCR SMPD1 ELANE RPL31 BAX HAX1 CBFB CEBPA LPP GNB1 RPS29 RPS10 RPS26 DKC1 XRCC4 RPL26 RARA BLM SF3B1 EFL1 TRIP13 RPS14 CDKN2A ADH5 CALR MLLT10 SRSF2 MDM2 TCIRG1 RPS17 RPS24 ERBB3 HP_INCREASED_CSF_LACTATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CSF_LACTATE NDUFS4 HSD17B10 MPV17 SURF1 PET117 TRMT10C MT-TS1 MT-TL1 MT-ND5 NDUFAF4 MT-ND6 PDHA1 MRPS34 COX14 AIFM1 COX20 COA8 NDUFS7 MTFMT NDUFAF2 MT-ATP6 COX10 PET100 NDUFV2 DARS2 SLC25A19 MT-CO2 NDUFA9 NDUFA12 MT-TN NDUFAF6 TXN2 SUCLG1 MT-ND3 NDUFS1 NDUFS2 COQ8A NDUFB11 NDUFS3 MT-TS2 COX15 NDUFA11 NAXE LRPPRC MT-ND1 NDUFA10 MECP2 MT-TK HPDL SCO2 MDH2 MT-ND2 NDUFAF5 MT-ND4 NDUFA2 HTRA2 NDUFA13 COX8A ECHS1 TRAPPC12 NDUFV1 MT-TH SLC39A8 PDHX NDUFA4 NDUFAF8 MT-CO3 NDUFAF3 NDUFS6 MT-CO1 NDUFA1 NDUFA8 MT-TW PNPT1 TIMMDC1 GFM2 TACO1 ALDH4A1 SDHA LIPT1 NDUFB8 MT-TF SLC19A3 FOXRED1 NUBPL LONP1 MT-TQ SLC13A3 NDUFA6 NDUFB10 RARS2 MTRFR MT-TV NDUFB9 COX4I1 COX6B1 NDUFS8 GFM1 NARS2 NDUFAF1 NDUFB3 RMND1 TMEM126B HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_CORTICOSPINAL_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_CORTICOSPINAL_TRACT BAZ1B RAD51 FUS NEFH GTF2I WASHC5 DCTN1 GALC PDHB GTF2IRD1 PLP1 RAI1 DEAF1 DCC CLIP2 NTN1 MT-ATP6 RTN2 CHCHD10 ABHD11 ABCD1 L1CAM FLII C9orf72 TBK1 ELN SLC33A1 GTF2IRD2 EIF4H SQSTM1 SOD1 LAT2 DNAL4 STX1A NCF1 VCP RFC2 FKBP6 CLDN4 DNAJC30 SPG11 VPS37D UBAP1 SPAST MLXIPL TARDBP ALS2 BUD23 TMEM270 METTL27 BCL7B TBL2 CPT1C ATL1 SPG7 LIMK1 IQSEC2 CLDN3 NIPA1 PRPH HP_UPPER_MOTOR_NEURON_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_MOTOR_NEURON_DYSFUNCTION PSEN1 PRDM8 SLC25A15 SATB1 PIGA MECR PPARGC1A DCTN1 PDYN CACNA1A ADGRG1 SEMA3A ERCC8 EIF2S3 DPM1 RNASEH2A MT-CO2 PNPLA6 GRIK2 DNAJC6 GRID2 GABRB2 STN1 CTNNA2 AMPD2 SLC39A14 ADAM22 SPG11 PIK3CA UBE4A NKX6-2 SPEN MT-TS2 ATXN10 KRAS SIX3 TPP2 ZEB2 NEXMIF MT-ND1 TUBG1 KIF5A GJB2 IFT140 SAMHD1 TBK1 ATXN7 FGF8 TREX1 MT-ND4 KCNA1 BCS1L ATL1 ARF1 NTRK2 MT-ND2 TRAK1 PROKR2 MCCC2 MAPT GLI2 PRKCZ SLC13A5 CYB5R3 SYP ALDH18A1 DLG3 PDHX VPS41 PLP1 NAGA RANBP2 PEX7 MAPK8IP3 TACO1 ERCC2 SCN2A HSPD1 AFG3L2 PQBP1 CTNNB1 ZFR UBQLN2 AP1S2 NCF1 CUX1 ELOVL4 ATRX MT-TL1 PUM1 WASHC5 RARS2 PPOX NDUFV2 B3GALNT2 RFT1 ERAP1 RNASEH2C PROK2 UGDH SETBP1 SOX3 CCT5 MT-TC TPI1 EIF2AK2 PTCH1 LMNB1 UBA5 CNKSR2 SLC2A1 MT-TF DMXL2 DNM1 NEFH RERE TUBB2B MBD5 L2HGDH PLA2G6 POMT1 PGAP1 KDM5C FBXO7 FUCA1 CAPN1 TRMT5 PET100 GBA ELN SACS CHP1 RPS6KA3 NODAL TANGO2 EIF4H SETX PANK2 TREM2 NDUFA12 TMEM106B HPRT1 HLA-DQB1 RRM2B NDUFS3 PFN1 SRPX2 KIF1A FTL CYFIP2 NUP62 COPB2 HNRNPA1 WDR48 DNM1L TAOK1 TULP1 WDR45 ARX IDUA AARS1 GOT2 SCN3A COX8A OPA1 PSAP TPP1 NHLRC1 B4GALNT1 TFG GRM1 CLDN3 CLDN11 FAR1 PON2 ODC1 GJC2 ACP2 TLR3 IL10 SHH MED27 LYST HSPG2 DLL4 TBCD EXOSC3 POLR1C WWOX C9orf72 FKTN NUP133 CLPB DISP1 AIMP1 SDHB CASK ERBB4 USP9X ERCC5 PPP3CA ADAT3 ATP6V1E1 NOTCH1 CLN8 KY AP4M1 MTTP TOE1 FGF13 NCDN INTS8 GBA2 GNAQ LIMS2 ATP6V1A TIMM50 SCN4A TMEM270 EXOC8 OPA3 TGIF1 PNP NMNAT1 CFHR1 FUS REPS1 HS6ST1 RNASEH1 MEOX1 ALDH3A2 USP45 ATP1A3 SPTBN2 EARS2 RTN2 KCNJ18 MT-TE COA8 RAB3GAP2 SIGMAR1 PRF1 CLTC CLCN4 C4A GAN APC2 AKT1 IBA57 STAT4 ZNF81 GLYCTK ZIC2 BAP1 MECP2 KMT2B LRAT HPDL TARDBP FGFR1 ZC3H14 ISCA2 PAK3 IMPDH1 GM2A MAG ANK3 MED23 RNF113A METTL27 PRPS1 TH SOX10 ALS2 WDR62 NALCN WDR73 REEP1 TTC19 SLC1A2 PPP1R15B HCN1 ZC4H2 METTL23 NIPA1 PRSS12 ACTL6B PAH SCYL1 CBS MT-CO1 NADK2 RPS20 NACC1 ABCC6 CRB1 XPA RAD50 COL4A1 NT5C2 POLR3A THSD1 SETD1B TRAF7 IKBKG ZNF592 RFC2 ATXN2 LAGE3 AAAS VCP ATP13A2 CYB5A KCNA2 DDB2 FOXP1 RSRC1 ALG3 BOLA3 NEU1 ATP1A2 NEFL SQSTM1 CACNA1D SP110 FAM126A AARS2 STUB1 NDUFS2 MAN1B1 PRTN3 KCNJ13 PRUNE1 KCNB1 ARHGEF6 CLIP2 MRPS34 EPM2A EDC3 DSTYK OPHN1 DCC PHGDH BDNF BCAP31 MSH6 HESX1 PAX6 DDHD2 UFM1 CIC MOCS2 GRIA4 AMACR SAMD9 COQ2 CACNG2 CACNA1B PRKRA SCO2 ARSA EXOC2 SMC1A TCTN2 SDHA ATXN8OS POMT2 ERCC6 SPP1 PYCR2 SIX6 BSCL2 NDUFAF5 DHDDS VWA3B SLC1A3 NDNF SUZ12 POLR3B ATAD3A TGM6 HACE1 TBC1D23 SLC12A6 ALG9 PMS1 IL1RAPL1 MBOAT7 GDF3 SYNGAP1 FGF12 RALGAPA1 SOD1 SOX4 MT-ND6 METTL5 TSC2 TCF4 PPIL1 PDGFB MED12L NUS1 NDUFB8 CTDP1 TUFM PRNP SZT2 KARS1 AP4S1 DYNC1H1 TBCE NEMF ATXN3 KLC2 MCCC1 SEPSECS SURF1 GTF2I CNTNAP2 CFH COL3A1 PTPN23 HLA-DPA1 L1CAM SLC25A22 ADAR TTR AP4E1 GALC PTS SYNJ1 CCR1 WASHC4 MED25 SARS1 SPTBN1 TGFBR2 RAB18 FRMPD4 DARS1 PMS2 NAXE MTRFR UFSP2 NDST1 PTCHD1 CDH15 ZFYVE27 STXBP1 ERLIN1 SLC16A2 SCN1A CSNK2B ZMYND11 TRAPPC9 CPT1A TRAPPC12 SLC6A5 GABRA3 GABRA2 TACR3 ARG1 CACNA1E CCDC141 SATB2 DDX3X PNPLA8 DOCK8 SPATA5 NF1 ZFYVE26 UNC80 MT-TW RNASET2 LIPT1 SLC19A3 CACNA1G MPZ SLC6A8 PDCD1 HUWE1 CLP1 TGFBR3 SYNE1 DNAJC30 CARS2 ERLIN2 NPC2 TSEN54 PEX2 C19orf12 NARS2 TP53RK ROGDI DMD FRRS1L RARS1 PEX5 ATXN1 TBP CWF19L1 FOXH1 PSAT1 HADHA UBTF ERCC1 NUBPL RAB39B TMTC3 GPAA1 PMPCA FIG4 GRIA2 ANGPTL6 DENND5A ASNS ATP7A LINS1 CSF1R ALG13 CAMK2B PNKP CDON MT-TK TBC1D24 TSPOAP1 UBE4B KIRREL3 RUSC2 RAB11A ARFGEF2 SMO SLC17A5 PPT1 GJB1 IQSEC2 AUH C2orf69 TUBB4A CYP2U1 CRX GRIN2B PLAA GTF2E2 MICOS13 PEX6 PON3 GRIN1 FAN1 KATNB1 GSX2 USP8 FOXRED1 PEX16 TBC1D20 PMP22 NFASC FEZF1 POMGNT1 NOP56 NAA10 ATN1 CTLA4 DLL1 COG2 CC2D1A CTC1 TSEN34 SPRY4 CAMK2A PRPH NEK1 RORA THOC2 ENPP1 MT-TS1 RBPJ RPIA GTF2IRD1 KIF11 DKK1 C12orf4 RBM28 CHCHD10 TYROBP MFN2 DYM UBAP1 MEFV ASPA LRP4 MTHFR LAMB1 TRMT10A AP5Z1 RAB3GAP1 BCOR MT-ND3 PEX26 BICD2 DNAJC19 GABRG2 MRE11 SPART TPRKB GAS1 NDUFA2 EIF2B5 SHMT2 CIT CPT1C MT-TH MTFMT IQSEC1 DCX LMAN2L GUF1 ABCA1 NHLRC2 DUSP6 STAG2 RNF13 SLC25A12 FGF17 MT-ND5 ST3GAL3 PCLO IL12A-AS1 DCPS MED13L SMARCB1 ARL6IP1 MT-TQ UFC1 CACNA1S EIF2B2 HLA-DPB1 MSL3 GMPPB SUFU TTC5 COQ8A GFM2 ADD3 EZR SLC44A1 LARGE1 HSD17B10 ABCD1 AP3B2 TAF2 MORC2 PEX19 MED17 AP2M1 MTPAP COASY GDF6 RAB27A EXOSC8 RETREG1 CHAMP1 PMPCB TMEM231 PEX1 FMN2 NDUFA9 MAN2B1 LAT2 ENTPD1 MINPP1 RLIM FLRT1 GLRX5 B3GALT6 DEGS1 SCN1B NF2 TIMM8A TUBGCP2 TNIK TSPAN7 ALG11 CCNF LIMK1 KCNA4 BCL11B ARHGAP31 NDUFA4 PIGC NDUFS1 PIGT MFF ACP5 SLC33A1 SET EIF2B4 RPE65 EPHA4 PTPN22 DAO NSD1 HTT OCLN GDAP2 DDHD1 HCFC1 MT-TV MT-CYB DPYD GFM1 COLGALT1 GABRD MT-CO3 PIGN SARDH TAF15 NDE1 NSUN2 GJB6 APC ANOS1 DNMT1 TDGF1 TRAPPC4 SPTAN1 FARS2 CDK19 DHCR24 RHOBTB2 KDM5B FAS MRM2 AGA MATR3 IFIH1 GPHN MDH2 TECPR2 EZH2 LIAS MSH2 SLC6A1 JAM3 ANXA11 MTHFS TUBB3 TRPM3 TDP1 PDGFRB LIPT2 HMGCL ERCC3 SLC25A46 GPT2 CDKL5 OTUD6B SEMA4A TMEM67 ADA2 IQCB1 PEX3 NDUFA8 STAR NDUFC2 MTOR SIK1 CHMP2B GLB1 OSGEP FA2H MRAP ERCC4 CLIC2 GLRA1 SLC25A10 TSEN2 RNASEH2B SELENOI BCL7B CNOT1 LCA5 GCDH ACSL4 ZNF711 MID2 CCDC88C PEX10 NTNG2 SCYL2 ACER3 SLC6A3 IL23R ATP6AP2 MACF1 SUOX CDC40 MPLKIP CYP27A1 HSD17B4 SIL1 NPPA CEP290 EPB41L1 DEAF1 COL4A2 KIF1C IARS1 SERAC1 LMX1B SPR UNC13A ZNF335 KIDINS220 FLRT3 USP27X INPP5K ABCB7 TARS1 BUD23 HNMT NDUFA13 DPYS OSTM1 MED12 LRRK2 UCHL1 EEF1A2 AIFM1 SLC12A2 POLR3GL ADPRS CAMTA1 AUTS2 TXN2 RFC1 PRRT2 PEX12 FKRP EXTL3 PIK3R5 ANG GRIN2D GBE1 TRAPPC2L SOX2 SPAST ELP2 POLG MT-TI VPS11 TSC1 SLC20A2 PLCB1 CRADD PDPN ECHS1 SUCLA2 APOE NDUFS4 IREB2 MLH1 UBAC2 RNF170 MT-TP NAGS MT-ATP6 GABBR2 SLC30A10 NDUFS7 ZNF41 EDNRB ATAD1 PIGQ HEXB RTTN ADSL NUP214 VAPB TELO2 CHD2 SPATA7 PCYT2 MARS2 TNFRSF11A MYORG FTSJ1 PAX3 NDUFA6 CTSF TLR4 CELF2 DLD NOTCH3 CLIP1 FOXG1 PHACTR1 VPS4A SON ATP2B3 DPM3 WDR45B LUZP1 VAMP1 AGTPBP1 KCNJ6 ARV1 PTEN XPC TAF1 NDUFAF4 PEX13 PDHA1 TGFB1 RAB11B VPS13D ABHD11 SCN5A GSS CKAP2L DARS2 NTNG1 NEUROD2 GABRA5 PPP2R2B FDX2 NDUFAF6 MBTPS2 WDR26 PHYH STX1A EIF2B1 HLA-B PRKN NDUFA10 AASS MT-ATP8 EPCAM AKT3 WARS2 SNCA NDUFV1 STEEP1 OTX2 SCN8A GNAO1 IL12A ITM2B TP53 VPS13C PI4KA WDR11 YWHAG POMK STAMBP MLC1 KCNQ2 GLT8D1 GTF2IRD2 CTSD RPGRIP1 DLAT REEP2 DOCK6 DNAJC3 VPS37D PODXL BCAT2 MCOLN1 EED EIF2B3 NDUFAF2 SNX14 SPG7 CAV1 ANKLE2 EML1 SLC12A5 ARNT2 POU3F3 ENG SLC18A2 MMP23B LINGO1 GCH1 SLC9A7 HIVEP2 GRM7 CYP26C1 CNPY3 APOA1 MMUT SUMF1 MLH3 AIPL1 GIPC1 COQ5 PIGP TBL2 GUCY1A1 WDR4 CRBN CARS1 KIF2A SLC35A2 NPC1 TTBK2 CYP7B1 RDH12 BEAN1 EPRS1 GRN NDUFS8 GTF2H5 DYNC1I2 ISCA1 PET117 TRIM8 YIF1B PRICKLE1 RNF216 CNTNAP1 COX20 SAMD9L B4GAT1 SDHAF1 GDI1 NOVA2 TTPA BRSK2 HEPACAM NUP107 GJA1 SMPD1 SEC31A COX15 PINK1 IRAK1 JAM2 PARS2 STIL KIF5C ASH1L ETHE1 CFHR3 AP4B1 CLN5 PIGU VPS37A FLNA SLC45A1 KCNC3 UPF3B SLC2A3 OPTN IRF2BPL BRAT1 TSEN15 COPB1 SPG21 TMX2 BTD SDHD GAD1 TENT5A BMPR1A EXOSC9 WT1 EOGT MARS1 PCDH12 MTO1 CFAP410 KLRC4 KCNQ5 NBEA ACOX1 ABCC8 AGTR2 DNASE1L3 ADARB1 SNORD118 POLR3K HADHB KANK1 CHD7 RASA1 NECAP1 TECR GATAD2B TCF20 LYRM7 MYT1L GFAP CHMP1A TMEM63A ATM GRIA3 PON1 MFSD2A MRPS22 MC2R GLE1 HTRA2 NDUFAF3 SPOP AFF3 FXN PEX14 SVBP GLRB MOCS1 RD3 POLA1 HINT1 FBXO31 PARK7 GTPBP2 NNT SLC5A6 HLA-DRB1 PCYT1A KDELR2 PAFAH1B1 MYO5A ARSI FUZ SLC1A4 IL17RD DHPS CNP TXNRD2 HTRA1 KCNAB2 ALKBH8 SMARCAL1 SMARCE1 TPK1 HNRNPA2B1 SKI PEX11B BAZ1B ABHD12 FDXR NR2F1 TERT UGP2 LRPPRC EEF2 KCNT1 CASZ1 PRDM16 TUBA1A VPS53 RNU4ATAC THG1L TRIT1 FKBP6 CRLF1 CLDN4 MLXIPL FBLN1 HIKESHI DALRD3 ASAH1 ATP6V0A2 TUSC3 ACAT1 DDC GUCY2D HP_ABNORMAL_RAPID_EYE_MOVEMENT_SLEEP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RAPID_EYE_MOVEMENT_SLEEP SIM1 DMPK MEN1 P2RY11 COQ2 MAGEL2 CTSH YY1 HCRT ZNF365 MOG TNFSF4 HLA-DQB1 HLA-DRB1 HP_IMPAIRED_VIBRATORY_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_VIBRATORY_SENSATION KLC2 ATXN1 ABCD1 SAR1B ERLIN2 DDHD1 SLC25A15 WASHC5 PDYN FLVCR1 RTN2 KIF5A GBA2 PDK3 SPTBN2 SPAST ARSI MT-ATP6 ALDH18A1 MFN2 MT-TE SAMD9L HARS1 GCH1 FAR1 DARS2 SACS VCP FGF14 C19orf12 NEFL ATXN3 VPS37A ATP13A2 FLRT1 UBAP1 WDR48 PRKCG LMNB1 VPS13A MAG FXN POLG ATXN8OS TPP1 CPT1C NEFH B4GALNT1 ATL1 SPG7 TDP1 NIPA1 TWNK SH3TC2 BSCL2 CACNA1G MORC2 SCO2 DCAF8 KLHL9 SPART GARS1 CYP7B1 PLEKHG4 PEX6 PLOD1 FMR1 HAX1 ZFYVE26 KCNC3 SLC33A1 CHCHD10 HSPD1 POLR3A SETX MPZ VAMP1 HK1 BEAN1 KCND3 MTTP REEP1 PMP22 ATXN2 REEP2 SYNE1 ERBB3 SPG11 HINT1 SORD DHH LRSAM1 HP_SPASTIC_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_ATAXIA MARS2 AFG3L2 TANC2 VAMP1 KIF1C CACNA1G DARS2 SACS TUBB3 TBCE MTPAP GLRX5 SPG7 PRDM8 MMADHC HP_SPINOCEREBELLAR_TRACT_DEGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINOCEREBELLAR_TRACT_DEGENERATION ATXN1 ATXN2 MAN2B1 GJB1 PLP1 TDP1 ATXN3 GCLC HP_PROGRESSIVE_INABILITY_TO_WALK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_INABILITY_TO_WALK TENT5A HSD17B10 KDELR2 REPS1 MYOT POMT2 ERBB4 DNAJB6 MAPT CDKL5 VPS16 SLC9A6 LARGE1 ADAR ALDH18A1 KLHL9 GALC GABBR2 SDHAF1 STXBP1 DARS2 SDHB GFM2 TK2 NTNG1 FARS2 MECP2 CLN3 RNASEH1 PLEC HK1 POMT1 MBTPS2 RRM2B FKRP FA2H SLC39A14 VAC14 NEU1 CRAT SDHA NUP62 GLRX5 DES MT-ATP6 GMPPB HINT1 VPS13A CRPPA BVES TWNK GIPC1 LRP5 AP4S1 SUCLA2 DYSF FAM126A SDHD SMC1A HP_DIFFUSE_CEREBRAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFUSE_CEREBRAL_ATROPHY PNKP GALC HSD17B10 DMXL2 FDXR TBP PRKAR1B GNAO1 PMPCA MED17 BTD SCN1B TRIM8 DNM1L CDKL5 ATP13A2 ATP6AP2 VPS16 COG2 CASK ARX SCN2A TBCD GRIN2A FARS2 FMR1 RARS1 COG5 CARS2 CTSF GLB1 TBC1D24 KCNA1 UQCRC1 PIGQ PIGP PSAP NEUROD2 STXBP1 SLC25A22 SIK1 HP_SEMILOBAR_HOLOPROSENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEMILOBAR_HOLOPROSENCEPHALY CNOT1 PTCH1 STAG2 ZIC2 TGIF1 SMC1A SEC31A HP_LIMB_HYPERTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_HYPERTONIA SEPSECS AP3B2 DNM1 NDUFA9 SLC6A3 CACNA1A SLC35C1 ERCC8 KCNB1 MTPAP ATRX PRPS1 ARSI EBP ERCC1 SDHAF1 RARS1 SPR DHPS SYNJ1 FAR1 GNB1 GRM7 KDM5C NCAPD3 EMC1 CDK19 ADGRG1 KDM1A RHOBTB2 SLC13A5 KIDINS220 SRPX2 ERCC6 GABRA5 VPS37A CYFIP2 KCNA2 ALDH18A1 WDR48 GABRG2 TSEN2 CACNA1B PARS2 AARS1 WARS2 CNKSR2 TARS2 NECAP1 CLTC LBR SCN3A KAT6A GABRB2 ALG11 SPG7 CELF2 PYCR2 NTRK2 EEF1A2 MTRR GABRA2 CLDN11 TRAK1 DHDDS HCN1 POLR3A SCN8A SLC16A2 STXBP1 SLC30A9 SLC25A19 FRMD4A SLC1A2 WWOX PIGP PI4KA YWHAG FA2H SYNGAP1 FGF12 SPATA5 NDUFC2 SDHB PNPT1 GFM2 SLC33A1 PCCB DNAJC12 KATNB1 HK1 ADCY5 PLAA USP8 ATL1 COG4 GRIN2D ARV1 TSEN15 PPP3CA ASXL1 PCCA SDHA FGF13 BRF1 GCH1 UBTF NUS1 DALRD3 SZT2 TSEN54 ATP6V1A ACTL6B TSEN34 DDC UBA5 SDHD HP_SPASTIC_TETRAPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_TETRAPLEGIA ANKLE2 WDR73 RNASEH2C YIF1B PLA2G6 COG2 NDE1 SYNJ1 AP4E1 CDC40 PCDH12 DYNC1H1 SLC1A4 FUCA1 RNASEH2A RANBP2 TREX1 OTUD6B ASNS COL4A2 CNP PHGDH SPTAN1 CTNNA2 CSF1R ALS2 ADGRG1 APC2 SPTBN1 IBA57 TBCE GLYCTK SRPX2 SEC31A RAB18 CNPY3 MOCS2 ATP13A2 TANGO2 GRIA4 TUBG1 DEGS1 IFIH1 STXBP1 SAMHD1 MECP2 ARSA SLC16A2 EXOC2 KANK1 WARS2 LIAS GOT2 KIF5C SHMT2 OSTM1 TUBB3 CYB5R3 AUH NALCN SIX6 KARS1 NDUFAF5 CACNA1E ARX KIF2A BCL11B SLC19A3 COASY PRDM8 SDHAF1 HSD17B10 PI4KA MRPS22 PDHX SOX10 TUBA1A RNASEH2B UNC80 GRIN1 VPS53 AP4M1 SCN2A GSX2 PPIL1 GLB1 TBC1D20 CLN8 CLIC2 SOX2 MOCS1 NDUFAF4 CYB5A PET100 ELOVL4 MCOLN1 COLGALT1 SEPSECS SCN3A TMX2 ADAR CACNA1D ADD3 HP_ALZHEIMER_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALZHEIMER_DISEASE MPO APP CACNA1G APOE ABCA7 NOS3 GATA1 PSEN2 PLAU HFE PSEN1 HP_BRAIN_STEM_COMPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRAIN_STEM_COMPRESSION TRAF7 TENT5A PDGFB NF2 KDELR2 MBTPS2 SMARCB1 BAP1 TERT DKK1 PIK3CA FGFR3 FUZ SMO SMARCE1 TNFRSF11A SUFU AKT1 HP_CEREBRAL_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_CALCIFICATION ERCC2 ATP7A ENPP1 MT-TS1 SUFU ERCC8 STAT2 MT-ND6 ACD RNASEH2A KRAS TERT TYROBP SC5D GNAS PDGFRB CA2 RTEL1 OCLN TERC ADAR TCIRG1 ISG15 CTSC ECM1 SLC20A2 TNFRSF11A NHP2 FAM20C CTNS MT-TS2 ERCC6 SLC46A1 TSC2 IFIH1 FAM111A SAMHD1 QDPR SNORD118 MGP PSAT1 ERCC1 MT-TH GJA1 BRAF RELN SLC25A46 KARS1 FARSB KRIT1 TREM2 ACP5 ERCC3 ZBTB20 PARN PAH MT-CO1 DKC1 NOP10 RNASEH2B ABCC6 MYO5A HRAS RNASET2 IFNG SMARCB1 GATA3 AP1S2 PTCH1 PEX6 TINF2 CASR NRAS NPM1 RNASEH2C MT-TW XPR1 TREX1 SLC26A2 SNRPB SLC12A3 JAM2 MT-ND4 FGFR1 PDGFB SLC2A1 HLA-DQB1 CLCNKB MT-TL1 COL2A1 PTCH2 CPT2 DENND5A MT-CO2 ACVR1 CTNNB1 DNM1L MT-ND1 SUCLA2 PTH MT-ND5 DAG1 OPA1 PSMB8 PEX1 ODC1 MT-CO3 MYMK PHGDH VPS33A CYP2U1 APP TSC1 AMER1 DDR2 WRAP53 COL11A1 MYORG USB1 MT-TF KL ERCC5 GNA11 MT-TQ HLA-DQA1 USP18 GNAQ CTC1 NSMCE3 COLGALT1 PSMG2 ERCC4 SLC29A3 AIRE HP_WADDLING_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WADDLING_GAIT DYM TPM2 SPEG TRAPPC11 NEB COLQ ALG14 CFL2 CCN6 SLC18A3 SELENON MMP13 SLC26A2 TGFB1 DOK7 SMARCAL1 ALG2 SLC6A17 FGD4 COL9A2 DSTYK ASAH1 COMP SNAP25 CHAT DNAJB6 SYNE1 LMNA AP4S1 IFIH1 KLHL41 FN1 COL2A1 DMD AGRN FKRP AP4E1 ACTA1 BICD2 TRIM32 LTBP4 MYPN TMEM43 MYO9A DEAF1 COL10A1 PREPL CANT1 SGCG DAG1 LRP5 CHST3 ALPL SLC34A3 HNRNPA2B1 LAMA2 SLC39A13 TPM3 NEFH MATN3 SPG7 LMOD3 YY1 HNRNPA1 DPAGT1 MYH2 TRPV4 AP4B1 CHKB COL9A3 ACBD5 EMD MAP3K20 DPM3 HACE1 ACAN PLEKHG5 SGCB GMPPB RYR1 KBTBD13 COL9A1 NOG VAMP1 BIN1 FHL1 GFPT1 PTH1R COL13A1 POMT1 MYOT FLNC ANO5 COL6A3 DYNC1H1 SGCA SYNE2 UFSP2 AP4M1 TTN COL12A1 MYH7 VCP MBTPS1 MORC2 SYT2 LAMB2 SLC25A1 COL6A2 SLC5A7 NEFL POC1A COL6A1 HP_INCREASED_INTRACRANIAL_PRESSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_INTRACRANIAL_PRESSURE PIK3CA PDGFB APC SDHC BMPR1A PDE4D SDHB MLH1 TERT UBAC2 ERF IL10 IL23R PTEN GALC BAP1 GNA11 IL12A DKK1 SEMA4A PMS1 ALX4 SEC23B L1CAM KRAS RPS20 SMARCB1 MEFV PRF1 CCR1 CCM2 KLRC4 ZIC1 STAT4 FAN1 CSPP1 FGFR3 IL12A-AS1 MSH6 NLRP3 C4A ELMO2 AKT1 SOST TRAF7 TGFBR2 FAS FGFR2 KIAA0586 TWIST1 CTNNB1 PMS2 HLA-B CASR KRIT1 NF2 SMARCE1 MLH3 GALK1 SUFU ERAP1 TCF12 EPCAM LRP5 MSH2 USF3 SDHD ANTXR1 PDCD10 PSAP TLR4 VHL PRKAR1A BRAF KLLN SMO HP_ABNORMAL_PERIVENTRICULAR_WHITE_MATTER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PERIVENTRICULAR_WHITE_MATTER_MORPHOLOGY FA2H PSAP CTBP1 ARHGAP31 POMT2 DDHD2 RBPJ ARSA PDHB EOGT PAK1 PDHA1 ALDH18A1 MEF2C MPLKIP CYP27A1 MMACHC LETM1 MTHFR NSD2 TSEN54 CNP AP4S1 CSF1R AMPD2 RTTN LMX1B SON TBCK AP4E1 ATP13A2 PC DEGS1 DNM1L OCRL GMPPB RAC1 SUMF1 TREX1 ISCA2 TARS1 WARS2 RNF113A ARID2 OPA1 DPM3 LYRM7 SSR4 LIPT2 UBA1 AP4B1 ODC1 PDHX CDC42 CLN5 MORC2 RPL10 ACP5 CLCN4 USP7 FARSA GALC DLL4 LARGE1 SHANK3 SUGCT ACTL6B GTF2E2 AP5Z1 STXBP1 ERCC3 NDUFC2 RFWD3 ERCC2 ABCD1 HK1 FGFRL1 DPM2 POMT1 CPLX1 NOTCH1 FKRP LONP1 AP4M1 PUF60 DOCK6 SPG11 BRF1 HIKESHI ACTA2 NRROS SELENOI TRMT1 VPS11 STRADA LAMA1 TET3 SEPSECS EDEM3 GM2A GTF2H5 CNKSR2 AARS2 HP_HYPSARRHYTHMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPSARRHYTHMIA GAD1 NF1 SATB1 PIGA ZNHIT3 IARS2 HIBCH STXBP1 CACNA1A PTPN23 GRIN2B PDHA1 ALG13 NSUN2 SLC13A5 SYNJ1 C12orf4 PTS GRIK2 NTRK2 AIMP1 PHACTR1 PIGQ DOLK WASHC4 SPTAN1 SARS1 ALG14 ABCC8 CDK19 APC2 SPTBN1 IER3IP1 GRM7 GLYCTK NPRL3 UBE4A AIMP2 MFF CNPY3 MED25 SCN1B NACC1 UFSP2 NDST1 NEXMIF KCNA2 FGF12 GABRG2 ZC3H14 MGAT2 CDKL5 CNKSR2 NECAP1 TECR CLTC MED23 KCNA1 PARS2 SIK1 PIGP TRAPPC9 GABRB2 TRAPPC12 CELF2 KCNJ11 IQSEC1 LMAN2L GUF1 GABRA2 TRAK1 CLIP1 CACNA1E GNAO1 SLC1A2 HCN1 ROGDI CRBN SCN2A METTL23 ERMARD GABBR2 CUL3 SLC35A2 PRSS12 CASK ST3GAL3 DOCK7 DCPS WDR45 PLAA EEF1A2 PLPBP KCNB1 LONP1 ARV1 UPB1 GRIN2D NDUFAF8 TUBB2A FGF13 B3GALNT2 TTC5 KCNT2 UGDH SETBP1 FBXO31 GFM2 ATP6V1A RSRC1 ACTL6B NPRL2 SCN3A ALDH7A1 TGFB1 FRRS1L SLC25A22 UBA5 EZR NEUROD2 AP3B2 MAN1B1 DMXL2 DNM1 GABRB1 ARX MED17 TRIM8 ALG2 HCFC1 PLCB1 EPM2A EDC3 PGAP1 ASNS PHGDH LINS1 FMN2 PNKP ALG3 PIGW GABRA5 ATAD1 CYFIP2 ALKBH8 DPAGT1 CACNA1B PAFAH1B1 AARS1 HNMT TNIK SMC1A DEPDC5 NHLRC1 SLC39A8 ARFGEF2 DCX HMGCL MDH1 DHDDS TIMM50 SLC12A2 KDM5B PIGC SCN8A GNB5 WWOX YWHAG MBOAT7 SLC45A1 SYNGAP1 KIF1A KCNQ2 SLC1A4 PPP3CA NCDN CUX2 NUS1 SPATA5 DALRD3 COX4I1 SZT2 TUSC3 EXOC8 CC2D1A CRADD CCDC88A NEMF HP_AREFLEXIA_OF_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AREFLEXIA_OF_LOWER_LIMBS GJB1 MRE11 OPA1 RAI1 GAN LIFR ATP6AP2 RYR1 SMN1 PDK3 GNE DNM2 POLG NEFL BIN1 ALDH18A1 KLHL9 MFN2 HSPB1 PLEKHG4 HARS1 SACS ORAI1 DYSF MAG MYOT RNASEH1 ARL6IP1 HSPB3 ACOX1 VCP PRPS1 GLE1 C19orf12 RRM2B TWNK FXN SQSTM1 ATXN3 HSPB8 DES DNAJC3 SMN2 POLG2 HINT1 VPS13A PMP22 SLC25A4 MYF6 STIM1 OPA3 MTMR14 PGM3 ERLIN1 TCAP HP_CATAPLEXY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CATAPLEXY NPC1 P2RY11 CTSH DNMT1 HCRT ZNF365 MOG TBCD TNFSF4 HLA-DQB1 HLA-DRB1 NPC2 HP_FALLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FALLS NKX2-1 CUX2 PRKAR1B NOL3 FXN FA2H SDHB GABRB3 ACBD5 MAPT SLC25A21 POPDC3 DNM1 ATP13A2 DMD ALDH18A1 CACNA1A PDE2A PTS VPS13A DMPK LRAT DYNC1H1 FAR1 SACS DAB1 ORAI1 CHD2 TTN SCN1A MAPK10 ATP6AP2 GAN SPTBN1 HP_NEURONAL_LOSS_IN_CENTRAL_NERVOUS_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEURONAL_LOSS_IN_CENTRAL_NERVOUS_SYSTEM CSF1R TBP MAPT GLUD2 PIGA FIG4 BRAT1 ZNHIT3 PDYN BSCL2 CTSD SERPINI1 NR4A2 C9orf72 PLA2G6 SLC9A6 PRNP SNCAIP KCNT1 TBCD PSAP HTT ATXN2 NPC1 POLG ATXN8OS FUS PSEN1 NARS2 VAPB VAC14 SCO2 ADH1C GRN GBA DNMT1 CHMP2B HP_AXIAL_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AXIAL_DYSTONIA COQ2 SIGMAR1 ALS2 CIZ1 PPP2R2B SPG11 MAPT COL6A3 FUS HPDL GNAL HP_ABNORMAL_POSTURING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_POSTURING ABCD4 TOR1A PRNP EPG5 PANK2 TIMM8A HP_ABNORMAL_CORTICAL_GYRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CORTICAL_GYRATION ATR LARGE1 SEPSECS ANKLE2 LMNB1 PEX6 KIAA0586 EML1 ZNHIT3 PDHB SRPX2 ADGRG1 NDE1 PDHA1 RAB3GAP1 NSUN2 BMPER RTL1 PEX13 GRIK2 TAF13 AIMP1 SPOP C2CD3 WASHC4 CTNNA2 SARS1 GPX4 HIVEP2 PHC1 CENPJ CEP41 KAT5 METTL5 IER3IP1 GRM7 KDM5B PYCR2 DAG1 NPRL3 UBE4A QARS1 RAB18 PEX3 MAP1B ZEB2 UFSP2 NDST1 PEX10 TUBG1 CDH15 PEX12 ASPM VLDLR ARL13B TMEM237 INPP5E KCNA1 CSNK2B PIGP KATNB1 ZMYND11 MCPH1 TRAPPC9 TUBB3 FIG4 PTEN TRPM3 CBY1 ARL3 PAX6 TCTN1 STXBP1 WDR4 TRAIP CRBN ACTB CDKL5 PEX16 KIF2A NSDHL CASK FAT4 TDGF1 TRAPPC14 NFIX SMO PLP1 VAC14 MEG3 MAPK8IP3 MTOR RELN FKRP POMGNT2 SIK1 MLYCD OSGEP ATP6V0A2 KIF14 CUX1 ATXN2 CLP1 FDFT1 CEP120 SMARCC2 TSEN2 TP53RK B3GALNT2 FH PEX19 ATP6V1A EIF2AK2 MPDZ DISC1 FGF8 CDK5RAP2 HIC1 DLL1 WDR62 FRRS1L B4GAT1 DYNC1I2 CEP85L ISCA1 TBL1XR1 DMXL2 ARID2 SNAP29 TUBB2B AHI1 MBD5 TRIM8 PIGB GMNN DONSON PSAT1 GPHN MACF1 CEP152 CDC40 ACTG1 PGAP1 TMTC3 DYNC1H1 TCTN2 EPB41L1 KIAA1109 DEAF1 POMK BRSK2 EOMES ARID1B MAGEL2 ASCC1 ASNS COL4A2 LINS1 AKT3 CAMK2B COL4A1 PNKP KIFBP NUP107 PTCH1 CRPPA NEK1 COPB2 CCND2 TAOK1 KIRREL3 SNRPN HNMT KIF5C ASH1L SYNGAP1 PI4KA RAB11A DEPDC5 PIBF1 CEP63 CRADD ATN1 DCX ETFDH TBC1D24 POMT1 EEF1A2 SLC12A2 B9D1 FOXH1 MED27 KIF1A MKS1 PHGDH DHCR24 GRIN2B PLAA LAMA2 XRCC4 CAMTA1 SLC45A1 NUP133 PEX2 FKTN TUBGCP6 PIK3CA ETFB ERMARD GRIN1 USP9X POMGNT1 NDN NARS1 ATP6V1E1 CPT2 SUFU ERCC1 CSPP1 AHDC1 PIK3R2 TBC1D20 PEX14 TSEN15 USP18 GMPPB NCDN GLI2 KLHL15 NCAPD3 POMT2 MECP2 CSNK2A1 RXYLT1 TMX2 CC2D1A MN1 TSEN34 DISP1 SOX11 CAMK2A SMPD4 KIF11 WDR73 GAS1 ARHGAP31 VIPAS39 LAMB1 ARMC9 TGIF1 PEX1 C12orf4 RAB3GAP2 PEX26 OCLN HYLS1 PIGQ CLTC KCNQ5 RTTN NBEA APC2 IBA57 CDK6 SHH SIX3 MED25 SCN1B TPRKB RAC1 ZC3H14 CDK5 CEP104 DPF2 ETFA TECR FTO MED23 SHMT2 CIT RECQL4 STIL MYT1L ATP6V1B2 IQSEC1 SMARCB1 LMAN2L WDR26 CLIP1 LMNB2 GNAO1 PPP1R12A FOXG1 METTL23 VPS4A PEX5 PRSS12 SON SASS6 NODAL TUBA8 ST3GAL3 DOCK6 YWHAE TUBB WT1 GPSM2 COL18A1 SUZ12 ADAMTS3 DCPS SRD5A3 SETD1B OCA2 COG6 DCHS1 LONP1 LAGE3 CDON TUBB2A TTC5 FBXO31 SMARCD1 GFM2 RSRC1 NPRL2 SCN3A ARX TBR1 SLC25A22 EZR ARID1A SLC5A6 MAN1B1 SOX4 VPS33B DHX37 PAFAH1B1 PEX11B FUZ SCN2A EDC3 CHAMP1 GNB1 MFSD2A NEUROD2 SMARCE1 COL3A1 FMN2 ZIC2 CCBE1 CEP135 CIC STS ALKBH8 CACNG2 TUBGCP2 CPLANE1 SMARCA4 TNIK KATNIP OFD1 TRRAP SF3B4 FRAS1 ODC1 HSD17B4 TMEM67 ZNF335 RPGRIP1L PIGC POLR3A KNL1 SLC25A19 RNU4ATAC CENPE MBOAT7 TUBA1A EXOC7 LAMC3 SET FLI1 ALG12 PLK4 TCF4 BICD2 PPIL1 MED12L DOCK8 PRKDC TUFM PPP3CA CTU2 TSEN54 NPHP1 TUSC3 RMND1 CCDC88A DLK1 NEMF CUL4B HP_ABNORMAL_CEREBRAL_CORTEX_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CEREBRAL_CORTEX_MORPHOLOGY ERCC2 ATR LARGE1 RNU4ATAC SLC25A15 CCDC32 KIAA0586 TOMM40 PIGA CIZ1 PDHB ADGRG1 NDE1 MT-ND6 DPM1 NSUN2 BMPER TUBGCP6 MUC1 ADGRV1 MMADHC PEX13 GRIK2 SLC9A6 TAF13 AIMP1 NDP RTEL1 WDFY3 MBTPS2 WASHC4 CTNNA2 TERT PHC1 CENPJ CEP41 RHOBTB2 KAT5 METTL5 IER3IP1 BRAF KDM5B PYCR2 DAG1 UBE4A SPEN VCP MT-TS2 QARS1 PEX3 PUS3 KRAS MAP1B DEPDC5 GABRG2 ZEB2 PC TUBG1 CDK13 PEX12 ASPM VLDLR EMX2 INPP5E KCNA1 KCNMA1 KATNB1 TUBB3 FIG4 TRPM3 MAP2K2 LIPT2 PAX6 SNRPN TCTN1 MCPH1 HUWE1 ABCA7 PIGN PRKCZ ACTB CDKL5 DOLK TREM2 OTUD6B FAT4 TDGF1 TRAPPC14 NDUFA8 PLP1 VAC14 MEG3 DOCK7 CPA6 PEX7 MTOR MAPK8IP3 FKRP SIK1 CHMP2B OSGEP NCF1 KIF14 TMEM237 CUX1 ERCC4 TMEM106B FDFT1 TSEN2 B3GALNT2 PEX19 MT-TW CLP1 SETBP1 EIF2AK2 TBK1 BCL7B PSEN1 B4GAT1 CEP85L JARID2 TBL1XR1 DMXL2 BICRA ARID2 SNAP29 TUBB2B SCYL2 AHI1 SLC35C1 MBD5 PIGB DONSON PPP2R2B ZMIZ1 POLG2 MACF1 CEP152 CDC40 MPLKIP DMPK PRNP SIN3B EPB41L1 KIAA1109 DEAF1 ELN POMK ARID1B MAGEL2 COL4A2 EIF4H COL4A1 RAB18 KIFBP SACS PTCH1 SRPX2 APP CRPPA NEK1 SVBP AP1S2 VPS37A COPB2 TANC2 PARN MED27 TAOK1 GMPPB BRD4 TARS1 BUD23 HNMT TWNK HRAS SYNGAP1 PI4KA CISD2 CDK5RAP2 B4GALNT1 CRADD CLDN3 SLC39A8 ATN1 SLC12A2 FOXH1 HSPG2 PHGDH TBCD DHCR24 EHMT1 ALS2 LAMA2 MAP2K1 CAMTA1 TCF4 C9orf72 NUP133 FKTN ETFB CASK ERMARD POMGNT1 DOCK3 MT-TF NDN NARS1 ATP6V1E1 CPT2 SUFU AHDC1 CCND2 ATP13A2 PEX10 AP4M1 LRRK2 NCDN KLHL15 GBA2 POMT2 PDE6D TSC1 TMEM270 RXYLT1 SATB1 MN1 PDPN APOE SMPD4 FUS KIF11 GAS1 ARMC9 ACD PEX1 MT-ATP6 PIK3CA RAB3GAP2 PEX26 GRM7 OCLN PIGQ CLTC RTTN CLCN4 APC2 IBA57 STX1B GLYCTK NSDHL CDK6 EIF4G1 SIX3 ATP6V0A2 CPLX1 TPRKB RAC1 BMP4 MARS2 TARDBP GABRD ZC3H14 CEP104 FTO MYO7A MED23 RNF113A DLL1 METTL27 CEP120 STIL PIGL CYB5R3 TRAPPC9 WDR62 RELN CLIP1 LMNB2 PPP1R12A FOXG1 HS2ST1 METTL23 PHACTR1 VPS4A PEX5 PUS7 PRSS12 TRAPPC6B SON SASS6 MT-CO1 TUBGCP4 TUBA8 MVK DOCK6 ERCC6 PIGS ERCC3 SLC39A4 TUBB XPA GPSM2 SUZ12 IFNG POLR3A LUZP1 SRD5A3 SETD1B RLIM IKBKG OCA2 ACTL6A DNAJC13 DCHS1 RFC2 PTEN XPC LAGE3 TUBB2A B3GLCT CYB5A DDB2 PNKP RSRC1 NPRL2 SCN3A SLC25A22 ARID1A PIK3R2 MAN1B1 VPS33B DHX37 TBC1D24 MT-TL1 PRUNE1 FMR1 CLIP2 ALDH18A1 SCN2A ABHD11 EDC3 DKC1 ALG8 CDH23 PCDH15 MFSD2A NEUROD2 SMARCE1 GABRA5 COL3A1 GLI2 MT-CO2 VARS1 CCBE1 CEP135 STX1A CIC TRIP12 PAFAH1B1 GRIA4 CACNG2 SCO2 CPLANE1 SMARCA4 ACO2 AKT3 KATNIP TCTN2 OFD1 HYLS1 WDR73 TMEM67 RPGRIP1L DPYSL5 MT-CO3 POLR3B KNL1 DDX6 MED13 VPS13C MAF MBOAT7 SMC3 KIF1A POMT1 LAMC3 CSPP1 SMC1A GTF2IRD2 STUB1 TSC2 PPIL1 TRAK1 DYRK1A ATRX MED12L RNF125 GNAQ CIT DOCK8 SPG11 VPS37D NDUFB8 PRKDC JPH3 SURF1 CTDP1 TUFM RAB3GAP1 TSEN54 NPHP1 TCTN3 SCN1B USH1G RMND1 DYNC1H1 CCDC88A SNX14 SPG7 RFT1 NEMF CUL4B SEPSECS ANKLE2 LMNB1 KMT2E PEX6 GTF2I EML1 HDAC8 CNTNAP2 ZNHIT3 IARS2 SCN9A PDHA1 RTL1 AP4E1 SCN1A PGAP1 MAPT SPOP MMP23B SQSTM1 C2CD3 AP4S1 SARS1 GPX4 HIVEP2 USH2A NPRL3 MAN2B1 UFSP2 NDST1 CDH15 ARHGEF9 ARL13B GBA ERCC1 ACTL6B CSNK2B PIGP TBL2 ZMYND11 TRAPPC12 NEDD4L GIGYF2 CBY1 ARL3 CWC27 STXBP1 WDR4 CACNA1E TRAIP COG1 CRBN BPTF RERE PEX16 KIF2A SLC35A2 DDX3X PTPN23 UBR7 NFIX SMO PDZD7 POMGNT2 MLYCD ATXN2 HPDL SMARCC2 DNAJC30 TP53RK BCORL1 FH KDM4B ATP6V1A PSMD12 MECP2 MPDZ DISC1 FGF8 GTF2H5 AGO2 HIC1 FRRS1L DYNC1I2 ISCA1 FGFR1 RAD21 SPECC1L TMEM70 TRIM8 GMNN PSAT1 GPHN MEF2C UBTF ERCC5 ACTG1 WASF1 TMTC3 NOVA2 BRSK2 EOMES ASCC1 ASNS LINS1 KMT2D CAMK2B NUP107 DPAGT1 HERC1 DHCR7 UBE4B KIRREL3 KIF5C ASH1L CNOT3 RAB11A FRMPD4 PIBF1 CEP63 TCF20 DCX ETFDH KAT8 AP4B1 CLN5 EEF1A2 GCDH B9D1 MKS1 UBE3A GRIN2B PLAA GTF2E2 GPKOW XRCC4 SLC45A1 PEX2 PSEN2 GRIN1 USP9X VPS35 KDM6A TBC1D20 PEX14 BCAP31 TSEN15 MT-TQ USP18 NCAPD3 TINF2 PRDX1 TRMT1 CSNK2A1 RPS6KA3 TRAPPC4 TMX2 CC2D1A FBXW11 TSEN34 DISP1 SOX11 CNKSR2 CAMK2A MADD MYT1L ARHGAP31 MT-TS1 VIPAS39 LAMB1 GTF2IRD1 TGIF1 C12orf4 CHCHD10 TYROBP NTNG1 SHH HNF1B KCNQ5 PIGV NBEA MED25 ADARB1 VPS13A GRN CDK5 DPF2 ARX ETFA TECR SHMT2 TMCO1 PARS2 NIPBL RECQL4 MT-TH ATP6V1B2 IQSEC1 SMARCB1 LMAN2L GUF1 WDR26 CDC42 GNAO1 USH1C NODAL ST3GAL3 YWHAE WT1 COL18A1 ADAMTS3 DCPS NDUFAF3 NUS1 SIN3A COG6 LONP1 CDON TTC5 FBXO31 SMARCD1 GFM2 TBR1 MT-ND4 POGZ WHRN EZR OPHN1 SLC5A6 SNCA PALS1 SOX4 AMPD2 PEX11B MYO5A MMACHC FUZ EXOSC8 ESPN CHAMP1 GNB1 FMN2 ZIC2 LAT2 SORL1 KCNAB2 STS ALKBH8 TUBGCP2 MT-ND1 WFS1 NEXMIF TNIK MT-ND5 LIMK1 SKI TRRAP SF3B4 FRAS1 BAZ1B ODC1 HSD17B4 ZNF335 FDXR PIGC UGP2 SLC25A19 HSD17B10 KCNT1 CENPE FA2H CASZ1 PRDM16 TUBA1A NDUFS2 NTNG2 EXOC7 HCN1 SET FLI1 ALG12 PLK4 BICD2 CIB2 FKBP6 CLDN4 HTT MLXIPL FBLN1 SPATA5 PPP3CA CTU2 DGUOK TNRC6B TUSC3 DLK1 EPG5 HP_CORTICAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORTICAL_DYSPLASIA MAN1B1 CNTNAP2 ARHGAP31 TUBB2B SCN9A NSUN2 C12orf4 FUZ GRIK2 SCN1A EDC3 PGAP1 DLL1 AIMP1 B4GAT1 SIN3B ADGRG1 WASHC4 ASNS LINS1 RTTN FMN2 SARS1 SCN2A STX1B GRM7 ADGRV1 NPRL3 SNAP29 UBE4A SLC12A2 MED25 DEPDC5 GABRG2 UFSP2 VPS37A NDST1 ALKBH8 NPRL2 TUBG1 ASPM GABRD ZC3H14 HNMT TNIK TECR AKT3 KIF5C MED23 TRAPPC9 NEDD4L IQSEC1 LMAN2L HSD17B4 FIG4 CLIP1 KDM5B PIGC CRBN METTL23 KIF2A SLC35A2 NUP133 DDX3X PRSS12 TSC1 MBOAT7 ST3GAL3 TSC2 SLC45A1 TUBB HCN1 PIK3CA COL4A1 MTOR DCPS SIN3A TUBB3 PTEN TUBB2A NCDN B3GALNT2 TTC5 FBXO31 RSRC1 FGFR1 SCN1B TUSC3 CC2D1A CRADD NEMF FRRS1L EZR CUL4B HP_INABILITY_TO_WALK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INABILITY_TO_WALK TENT5A DLL1 RPL10 TRAPPC11 ERLIN2 REPS1 SATB1 PANK2 SLC12A5 DNM1L ATP6AP2 GRIN1 PTCH1 EIF2S3 VPS16 INTS1 CAMK2B PDHA1 VPS51 ADAR ZIC2 NEFL MEF2C GALC MFN2 SLC6A17 MT-TE GABBR2 DYM STXBP1 SIGMAR1 DNAJC6 SPG11 GABRB2 TDGF1 FGF8 TK2 OTUD6B GEMIN4 CTNNA2 FCSK STRADA ADSL DCPS RHOBTB2 DHX30 CACNA1B AIMP2 TELO2 MAST1 DISP1 CPLX1 SIX3 ZEB2 DES CAMK2A FGF12 MECP2 SPTLC2 FGFR1 MDH2 ATAD3A VPS13A SLC16A2 KCNJ10 CDKL5 GAS1 FOXH1 GIPC1 CHRND NDRG1 TUBB3 PIEZO2 DYSF NTRK2 SH3TC2 GLI2 NODAL NGLY1 CACNA1E STAG2 MAPT MORC2 SLC1A2 SLC35A2 SMS ACTL6B MFSD2A ALDH18A1 KLHL9 PIGP P4HTM VAMP2 WDR45B SHH VPS41 PIGS PLP1 DOCK7 ATL3 FARS2 MAPK8IP3 PLEC POMT1 ARL6IP1 CACNA1G AGTPBP1 FKRP DPYD FXN FA2H LONP1 EPRS1 ASXL1 CRAT TGIF1 CLIC2 UQCRQ UBTF LNPK HNRNPK MT-ATP6 SLC19A3 PPP2R1A HINT1 SELENOI GMPPB BVES FOXG1 EIF2AK2 CDON SCN3A GDAP1 TBR1 MED25 GTPBP2 FAM126A DYNC1I2 NEUROD2 HSD17B10 SCN1A KDELR2 PPP1R21 GNPTAB NTNG2 POMT2 SMC1A TFG SLC9A6 MRPS34 TIMM8A SYNJ1 EPM2A DMPK SLC1A4 GPAA1 MPZ MYOT UNC80 SDHAF1 ASAH1 GRIA2 GNB1 DARS2 NTNG1 SLC39A8 CLN3 FOXRED1 SYT1 SERAC1 VARS1 LMX1B STAC3 MBTPS2 RRM2B SMPD1 SLC39A14 SEC31A NEU1 CTBP1 ASXL3 NUP62 DPAGT1 GRIA4 ST3GAL3 MSTO1 GLRX5 TBCD ADSS1 MTRFR CRPPA GOT2 TWNK LRP5 NEB MAGEL2 NHLRC1 PYCR2 ATN1 SLC17A5 FLNC TMEM107 AP4B1 CLDN11 FAR1 ERBB4 CLN5 DNAJB6 CACNA2D2 LYST DNM1 HACE1 SLC2A1 ATL1 LARGE1 TBC1D23 VPS33A ATP8A2 LRPPRC TBCK LAMA2 MFF ALS2 SDHB KCNQ2 SLC2A3 GFM2 SLC25A4 ZC4H2 ASPA CHCHD10 ABCD1 RNASEH1 KIF1A GSX2 EXTL3 HK1 GLE1 TBC1D20 CLN8 VAC14 SDHA GABRA2 GRM1 TRAPPC2L HTT PODXL INTS8 TRIM2 SPATA5 COPB1 ATP6V1A MBOAT7 PMP22 SPTLC1 PGAP3 AP4S1 SNX14 GEMIN5 SUCLA2 FUS TREX1 SDHD TSEN15 HP_OLIVOPONTOCEREBELLAR_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIVOPONTOCEREBELLAR_ATROPHY ATXN1 ATXN2 TTC19 MBTPS2 ERCC6 COQ2 ATXN7 HP_RETROCOLLIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETROCOLLIS SPG11 KMT2B MAPT FUS SIGMAR1 PRKRA ALS2 HP_INCOMPREHENSIBLE_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCOMPREHENSIBLE_SPEECH FOXP2 CC2D1A SRPX2 GRIN2A FXN SATB2 GATAD2B SETBP1 HP_PARKINSONISM_WITH_FAVORABLE_RESPONSE_TO_DOPAMINERGIC_MEDICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARKINSONISM_WITH_FAVORABLE_RESPONSE_TO_DOPAMINERGIC_MEDICATION TAF1 PSAP DNAJC13 EIF4G1 ATP13A2 TK2 UCHL1 LRRK2 MAPT FBXO7 POLG PARK7 GBA TH GIGYF2 UQCRC1 GCH1 HTRA2 PLA2G6 VPS35 SNCA PDE10A HP_ABSENT_FACIAL_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_FACIAL_HAIR FRAS1 CWC27 BRAF POLR1C LMNA ODC1 TCOF1 POLR1D PHGDH TWIST2 LRP1 ANAPC1 ZBTB20 HOXC13 KRT85 GJB2 RECQL4 TP63 SOX18 POLR1B RIPK4 ZMPSTE24 DSP NECTIN4 JUP MBTPS2 HR EDA AR HP_HIGHLY_ARCHED_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGHLY_ARCHED_EYEBROW NSD2 GAD1 MYT1L SMPD4 KMT2E FOXL2 CCDC32 HDAC8 CDH11 SIX3 COLEC10 PIGL PUS7 ARMC9 KMT2D AHI1 FGFR1 SLC45A1 ABCC9 TMEM237 MAN1B1 SPEN NTNG1 STIL SPOP BCOR GLI2 TCTN3 HYLS1 WDFY3 OTUD6B PIGV RPS6KA3 TRIO CEP41 ZIC2 FAM20C ANKRD11 SMC3 ACTB STAG2 MAN2B1 TMEM216 RPGRIP1L NELFA TBCK SLC12A2 LRPPRC ZEB2 RAC1 ASPM KCNK9 ACTG1 GRIA4 ARL13B MBD5 PIGY NUP188 CEP104 MASP1 ASXL2 INPP5E SHMT2 CHST3 ACTL6B CEP120 NIPBL MAPK1 KCNMA1 SEMA3E MADD EP300 ZNF423 CBY1 ARL3 MEIS2 TCTN1 CDC42 HUWE1 HS2ST1 CTBP1 RAD21 BPTF HDAC4 PTPN23 FRMD4A TMCO1 UBR7 COLEC11 SHH STXBP1 PIGS PPP1CB PDE6D SPECC1L MKS1 CTCF FGFRL1 TGDS SMARCA2 CPLX1 RLIM ACTL6A MAPK8IP3 CLP1 HPDL PIGW FAR1 FAM149B1 TMEM67 BCORL1 SZT2 DISP1 CRKL KDM4B BCR PSMD12 FGF8 CHD7 AGO2 AUTS2 TASP1 DDX6 PIGG CLCN6 PGAP3 PALS1 JARID2 C12orf57 TFAP2B BICRA KIAA0586 CAMK2G RPS23 TMEM138 ZMIZ1 SOX11 COX7B PGAP1 WASF1 TCTN2 PGAP2 MEGF8 KDM6A LETM1 LMX1B PACS1 HSPA9 TRIP12 SVBP ASXL3 TMEM94 AFF4 TANC2 MED27 CPLANE1 ECEL1 RUSC2 BRD4 CEP290 SMC1A CHSY1 KATNIP KAT6A CNOT3 PIBF1 TCF20 TWIST2 CREBBP TRRAP CYFIP2 CC2D2A KIF7 KAT8 IGF1R DPYSL5 MESD B9D1 RNF2 UGP2 TBX4 PIGO OFD1 MED13 EHMT1 NTNG2 PUF60 KDM1A ERMARD ZNF462 SETD5 DOCK3 ADAT3 ESCO2 SUFU CSPP1 VPS35L KIFBP TMEM231 TAF6 HTT KIAA0753 SPATA5 CTU2 TNRC6B NECTIN1 STRADA NPHP1 TRMT1 PPP2R3C CSNK2A1 TRAPPC4 SATB1 MN1 FBXW11 HP_ABSENT_PUBIC_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_PUBIC_HAIR EPS8L3 CYP17A1 NR5A1 GNRH1 AR GJB6 HP_HYPOPLASTIC_NIPPLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_NIPPLES TP63 GNE HDAC8 CCDC47 CHRNG EDARADD KIF15 TBX3 ALG9 PIGL TUBB RTL1 SLC25A24 IKBKG PORCN BRD4 MGAT2 SMC3 UBR1 ANTXR1 MEGF8 MEG3 SETBP1 NIPBL TWIST2 USP9X PTPRF SMC1A DLK1 EDA WNT7A RAD21 KDM6B HP_SUPERNUMERARY_NIPPLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPERNUMERARY_NIPPLE TCF4 GPC4 ARHGAP31 PIGL HDAC4 PIGO TMCO1 COLEC11 RNF216 IKBKG COLEC10 PGAP2 GDF11 TNRC6B CKAP2L MEGF8 GPC3 KRAS KDM1A CSPP1 PIGV ACTB PPP2R5D TFAP2A HNRNPK NONO DHODH PNPLA6 KIAA0586 PIGW ASXL3 TP63 MASP1 PORCN MDH2 CDH2 PIGY ASXL1 ZEB2 DDX6 TFAP2B PGAP3 HS2ST1 TRRAP HP_ABSENT_NIPPLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_NIPPLE TWIST2 TP63 FIG4 EDARADD PTPRF CDH11 EDA SLC25A24 HP_LOW_SET_NIPPLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_SET_NIPPLES GTF2H5 TARS1 ERCC2 PIGL ERCC3 KAT6A MPLKIP RNF113A GTF2E2 HP_INTESTINAL_MALROTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTESTINAL_MALROTATION WNT4 MYH11 SEC24C ZPR1 HMGA2 CTBP1 HDAC8 CFAP221 COMT DNAH1 NODAL ODAD2 RSPH4A GATA6 KMT2D JMJD1C DNAAF2 DNAH9 BCOR CLMP MCIDAS LETM1 FOXF1 NSD2 NOTCH2 NIPBL DNAAF4 TTC7A TTC12 KDM6A DHODH MYRF DNAAF1 CENPF DNAJB13 FGFR2 ABL1 CREBBP CFAP300 NEK1 ASXL3 CCNO DHCR7 DRC1 CCDC65 FOXJ1 SPAG1 PORCN CHRM3 BRD4 ZMYND10 EYA1 CCDC22 DNAI1 RFX6 NEK10 ODAD1 ASXL1 KAT6A HIRA GPC4 EP300 ARID1B RSPH3 DNAL1 CHST14 GAS2L2 SPEF2 TBX1 SIX1 NPHP3 FARSB ACTG2 DNAI2 CCDC39 PIGN LRP2 MKS1 TP63 FLNA DNAAF6 SLC12A2 FBN2 UBE3B DHCR24 UFD1 ODAD3 AMER1 SMO RSPH9 SMC3 MMP21 DNAH11 HNRNPU DNAAF3 GPC3 SALL4 MED12 CCDC40 CCDC103 SMC1A FLI1 SETD5 TFAP2A GP1BB FGFRL1 ALG12 LEMD3 DSE CPLX1 LBR SPINT2 LMOD1 FLNB GAS8 DYNC2H1 ARVCF ISL1 RSPH1 DNAAF5 MYLK ERBB3 OFD1 ACTA2 CFC1 RREB1 NME8 ZFPM2 WASHC5 DNAH5 ODAD4 RPGR DNAAF11 CFAP298 IFT43 LRRC56 HYDIN STK36 RAD21 HP_EPISODIC_VOMITING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISODIC_VOMITING HMGCL MT-ND1 MT-ND2 SLC25A15 MT-TL1 MT-ND5 MT-ND6 NLRC4 SHANK3 MT-CO2 COQ2 PNPLA8 MT-TV ACADVL MT-TF CPOX MT-ATP6 MT-TW CCM2 ALAD NFIX D2HGDH MT-CYB MT-TQ HNRNPK HS3ST6 MT-ND3 ZEB2 MT-TK UNC45A ARG1 NEXMIF KRIT1 UQCRC2 GK MT-ND4 MT-TC NOTCH2NLC MT-TS2 PDCD10 CDK8 ALG11 MT-TS1 MT-CO3 PDSS2 SLC5A6 MT-CO1 HP_HEMATOCHEZIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMATOCHEZIA ACVRL1 HPS1 IL10RA APC GREM1 ENG SMAD4 BMPR1A PTEN F5 WIPF1 PLVAP TTC7A WAS HP_TRACHEOESOPHAGEAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRACHEOESOPHAGEAL_FISTULA SPECC1L SOX2 GTF2I POLR1D ARNT2 GTF2IRD1 SEMA3E MYCN ZIC3 BRCA2 CLIP2 FANCB FANCE TERT ABHD11 HOXD13 ELN TERC FOXF1 WBP11 HESX1 FANCI EIF4H LAT2 NHP2 STX1A TCOF1 SLC12A2 SLX4 FANCA FANCD2 POLR1B FANCL FGFR1 BUD23 NCF2 ITGA8 METTL27 TBL2 RFWD3 LIMK1 CLDN3 CYBA ERCC4 CYBB CHD7 BAZ1B PROKR2 XRCC2 OTX2 FBN2 FGF20 NCF1 PARN RTEL1 NOTCH3 DKC1 NOP10 RET WRAP53 WNT7A USB1 GTF2IRD2 FANCF POLR1C CYBC1 FANCC TINF2 RFC2 FKBP6 NCF4 CTC1 CLDN4 DNAJC30 UBE2T VPS37D PDGFRB FANCG NPM1 MLXIPL RAD51 SOX3 BRCA1 TMEM270 BCL7B BRIP1 GREB1L FANCM PALB2 MAD2L2 RAD51C HP_INTUSSUSCEPTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTUSSUSCEPTION BMPR1A PTEN UNC45A SMAD4 GREM1 ARID1B PDGFRA STK11 HP_ABNORMAL_STOMACH_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_STOMACH_MORPHOLOGY BCL10 ATP7A PLEC RNF43 COL1A1 PEX6 GTF2I LAMB3 HDAC8 BMPR1A WDR73 BUB3 BUB1B SUFU GTF2IRD1 HNF1B CTLA4 PEX1 SMAD4 KANSL1 TBX3 ITGA6 MMP23B APC PEX26 SERPINH1 ZNF41 SLC2A10 FOXP3 ATAD1 AKT1 FGFR3 PPP2R5D SH2B1 FAS SLC9A7 TNXB CISD2 PIK3CA ZNF81 DHODH NEK9 ARF1 PTPRJ SPEN PEX3 FRMPD4 SDHA ZEB2 PEX10 CCND1 CBLIF AGTR2 PTCHD1 PEX12 ENG CDK4 DLC1 ARX GPHN KLF6 ADAMTSL2 TPRKB FTSJ1 PAK3 MSH6 NRAS NCF2 SYK LBR EFEMP2 METTL27 MYF6 NIPBL EP300 TBL2 ARID1B AXIN2 CYBB CHST14 SLC6A5 WDR4 FIG4 BAP1 ITGB4 PDGFRA FGFR2 HDAC4 RERE PRKCZ PEX16 POT1 PEX5 CHEK2 TMTC3 FLCN SEMA4A SYP DLG3 RPS20 TERF2IP MITF VAC14 ZNF699 MED12 ADAMTS3 TFAP2A GLIS3 LUZP1 COL5A1 DCC COL18A1 OSGEP MC1R NCF1 CYBC1 SDHC RAD54B PRKAR1A RFC2 FLNA TERT GLRA1 NCF4 LAGE3 AIRE CDKN2A NFKB2 GLRB DNAJC30 TTC37 CASP10 IL1RN NEDD4L KIT PEX19 CRKL ACD BCR OTC COL5A2 TP53RK MTM1 MDM2 BCL7B DMD MSH3 MTMR14 PTCH1 MAP1B TGFB3 ACSL4 ZNF711 RAD21 CNKSR2 NFKB1 MYH11 MLH1 SRC MID2 AURKA SPECC1L BUB1 PEX11B ARHGEF6 RASGRP1 CLIP2 BIN1 FAT4 TP53 BCOR CDH1 ABHD11 RAB39B GDI1 AAGAB MUTYH GBA ELN ADAMTS2 DLK1 IL1B RPS6KA3 CDKN2B COL14A1 ALG13 EIF4H TLR2 LAT2 MECP2 HRAS LAMA3 NUP107 STX1A KCNAB2 USP27X STS STK11 MGMT NPHS1 DHCR7 FBLN5 UBE4B PORCN MCC CAVIN1 BRD4 BUD23 WFS1 ARFGEF2 TSPAN7 CTNNB1 MAPK1 PDGFRL NEFH PIEZO2 LIMK1 CLDN3 CYBA SKI BRAF PLA2G4A PTCH2 BAZ1B SKIV2L IQSEC2 RIPK1 TCF4 MSH2 STEEP1 ABCC2 CCBE1 RYR1 HSPG2 ALDH18A1 BAX DNM2 KRAS IL1RAPL1 CEP57 CASZ1 IRF1 PRDM16 LRBA SMC3 NUP133 PEX2 PTPN12 ERBB2 UPF3B LTBP4 PEX13 MLH3 SMC1A FLI1 GTF2IRD2 USP9X MEG3 PRKCD SDHB CLCN4 DYRK1A PEX14 FKBP6 CLDN4 BLM VPS37D TRIP13 FASLG MLXIPL HCFC1 RTL1 ERMARD NAA10 CARD8 PLA2G2A PPP2R3C TMEM270 LAMC2 MAP3K7 GABRD PDPN TREX1 HP_GASTROPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROPARESIS POLG2 MYH11 ATP7A TYMP TMEM70 MAGEL2 OCA2 TWNK SNRPN PINK1 PRKN HNRNPK POLG SON DNAJC6 PODXL NDN RRM2B MGAT2 PARK7 VPS13C EIF2AK2 SLC25A4 SNCA MPEG1 HTRA2 ACTG2 LRRK2 UCHL1 SYNJ1 HP_VOLVULUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VOLVULUS MYH11 PACS1 CHRM3 BRD4 HDAC8 FOXF1 ATRX SMC3 DIS3L2 NIPBL TEK SMC1A VPS51 RAD21 HP_CHRONIC_ATROPHIC_GASTRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_ATROPHIC_GASTRITIS AIRE IL1B LRBA CTLA4 IL1RN KRAS CDH1 NFKB1 HP_COLITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLITIS PIK3CD MYH11 XIAP SKIV2L IL10RA FCHO1 TCF4 INAVA CYBC1 STX11 RASGRP1 NLRC4 FCN3 IL6 UNC13D NOD2 MASP2 FERMT1 CARMIL2 ACADVL LRBA MST1 ELANE ZAP70 SLC37A4 OPLAH TNFAIP3 CASP10 FOXP3 IVNS1ABP FAS IL37 PRF1 PRKCD HPS1 STXBP2 SEMA4D TTC37 BCL10 GPR35 FASLG BACH2 CARD8 RFX5 IL10RB SYK NCF4 POLA1 STAT1 TGFB1 MAP3K7 RTEL1 RFXANK GPIHBP1 CIITA RET PLCG2 RFXAP PSTPIP1 HP_INTESTINAL_BLEEDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTESTINAL_BLEEDING APC PTEN TEK CTC1 STK11 BMPR1A HP_ABNORMALITY_OF_THE_PERITONEUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PERITONEUM WT1 PLCE1 NUP133 NUP205 CDKN2A BRCA2 MYO1E NUP37 TP53 BCL6 MAGI2 NAB2 ACTN4 NPHS1 STAT6 GAPVD1 NUP93 F5 TBC1D8B ELANE APOL1 MEFV SMAD4 BCL2 PALLD RABL3 SLC29A3 NUP160 BRCA1 HLA-DRB1 JAK2 DAAM2 MYH11 CD2AP CRB2 NPHS2 ELP1 EWSR1 ANLN ARHGAP24 NUP107 ANKFY1 MVK COL4A3 INF2 NUP85 TRPC6 TTC7A EMP2 COQ8B KRAS ARHGDIA SERPINE1 F10 PALB2 PAX2 TNFRSF1A CFB PTPRO HP_PERITONITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERITONITIS WT1 PLCE1 NUP133 NUP205 JAK2 DAAM2 MYH11 CD2AP CRB2 NPHS2 MYO1E ANLN NUP37 BRCA1 MAGI2 ARHGAP24 ACTN4 NPHS1 GAPVD1 NUP107 NUP93 ANKFY1 MEFV MVK COL4A3 INF2 NUP85 F5 TRPC6 TBC1D8B ELANE EMP2 APOL1 COQ8B ARHGDIA NUP160 PAX2 TNFRSF1A CFB PTPRO HP_DUODENAL_ULCER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUODENAL_ULCER PLG EP300 MEN1 CDKN1A ARID1B CDKN1B CDKN2C PLA2G4A SYK CDKN2B HP_GASTROINTESTINAL_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROINTESTINAL_ATRESIA PLEC SHH SOX2 RERE BUB3 SIX3 BUB1B BUB1 ARNT2 NODAL SEMA3E MYCN FGFR1 FGFR2 DYRK1A MIR17HG MAMLD1 EFTUD2 FANCF FANCB WDR35 STIL ITGA6 GLI2 FOXF1 WBP11 RTTN SPINK5 HESX1 TTC7A ZIC2 DYNC2I1 MYH11 CENPF SON IFT80 FANCD2 SIN3A CHRM3 DYNC2I2 TGIF1 RFX6 STAG2 DYNC2H1 FGF8 SIX6 CHD7 PROKR2 PIGN PPP1R12A ITGB4 DIS3L2 SALL1 OTX2 CDON FBN2 KDM3B PORCN CEP57 FOXH1 ZNF699 DISP1 RFWD3 PTCH1 FLI1 FANCL YY1 TDGF1 TRIP13 PAH RAD51C ERCC4 SOX3 DLL1 AR RMRP TCTN3 SMARCD1 GAS1 SUFU HP_POLYPHAGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYPHAGIA SIM1 ABCC8 MC4R UBE3A PREPL SH2B1 HERC2 SPEN MEN1 GNAS HNF1A MMP23B YY1 MAPT MAGEL2 LEP UCP2 LEPR SNRPN KCNAB2 CTNNB1 POMC UBE4B MBD5 NDN PTPN22 KCNJ11 SETD2 BSCL2 SNORD116-1 NTRK2 BRAF SKI SATB2 RERE PRKCZ HSPG2 MAN1B1 IFT74 CASZ1 PSEN1 PRDM16 PWRN1 ALMS1 BBS9 ADNP SLC2A3 GRN SLC5A2 MKRN3 LUZP1 PWAR1 OCA2 GPR101 AGPAT2 NPAP1 HTT ATP10A SLC3A1 ITPR3 IL6 MN1 GABRD PDPN SNORD115-1 PCSK1 HP_GASTRIC_ULCER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTRIC_ULCER CISD2 ARID1B WFS1 PLA2G4A GBA HP_PANCREATIC_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_HYPOPLASIA CEL KLF11 DNAJC21 NEUROD1 BLK HNF4A APPL1 GATA6 EFL1 GCK ABCC8 KCNJ11 PDX1 SBDS STAT3 SRP54 PAX4 INS PTF1A HNF1B RFX6 HNF1A SLC29A3 GLIS3 HP_ILEUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ILEUS FAH CAVIN1 MTRFR SOX10 WT1 FOXP3 SLC6A8 EWSR1 TGFB1 FCGR2A PPOX GUCY2C CFTR HMBS HP_HEAD_TITUBATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEAD_TITUBATION LMNB1 VPS13A NKX6-2 GJC2 SIGMAR1 LAMA1 HIBCH EIF2AK2 ALS2 PLP1 TMEM63A SPG11 UCHL1 KIF1C FUS SPTBN1 HP_HYPOREFLEXIA_OF_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOREFLEXIA_OF_LOWER_LIMBS KLC2 FLNC FBXO38 DES IBA57 GAN PRKCG ATP6AP2 IFRD1 CRYAB FLRT1 MYOT ADSS1 HSPB8 HADHA HSPB1 HADHB LDB3 PMP22 FBLN5 FASTKD2 STIM1 LMNA DYSF MAG ATL3 HSPB3 RUBCN MYH7 DYNC1H1 HP_HEPATIC_NECROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATIC_NECROSIS ETFDH DGUOK NHLRC2 ACADVL MET CTNNB1 HADH ETFA SDHD ETFB HP_CELIAC_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CELIAC_DISEASE BICRA HLA-DQB1 ODC1 IL12A WAC HLA-DQA1 TCF4 IL12RB1 SEMA4D STAT5B SOCS1 POU2AF1 MMEL1 GPR35 ELN TNPO3 MLXIPL SRCAP MST1 TNFSF15 SPIB IRF5 STAT3 SATB2 IVNS1ABP HP_CHOLESTATIC_LIVER_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOLESTATIC_LIVER_DISEASE PRF1 UNC13D EPCAM VPS33B NEUROG3 STXBP2 VIPAS39 SHPK STX11 AKR1D1 HADHA CYP7B1 YARS1 DHCR7 HSD3B7 NOTCH2 CCDC115 HP_CONGENITAL_HEPATIC_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_HEPATIC_FIBROSIS CC2D2A TMEM107 ARHGAP31 IQCB1 TMEM216 CEP164 RBPJ INVS TMEM231 EOGT DLL4 DOLK DZIP1L SDCCAG8 WDR35 TCTN3 TRAF3IP1 PKHD1 SLC40A1 CYP7B1 HAMP RPGRIP1 RPGRIP1L INPP5E DYNC2I1 WDR19 TMEM67 NOTCH1 TCTN1 B9D1 B9D2 IFT80 DOCK6 NPHP1 CSPP1 HJV PNPLA6 DYNC2I2 TCTN2 MKS1 TXNDC15 NPHP3 DYNC2H1 NPHP4 CEP290 TMEM237 HP_BILIARY_CIRRHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILIARY_CIRRHOSIS SLC9A3 CEACAM6 HFE NPHP3 IL12A TGFB1 IL12RB1 MIF SERPINA1 STX1A POU2AF1 GCLC MMEL1 ABCB4 CLCA4 TNPO3 KCNN4 SLC26A9 GSTM3 WDR35 HMOX1 TNFSF15 SLC6A14 LBR FCGR2A SPIB IRF5 DCDC2 DCTN4 CFTR CEACAM3 PKHD1 EDNRA SLC11A1 HP_HYPOTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOTENSION ABCA3 COL1A1 IL12A SLC25A20 CYP11A1 NTRK1 KCNJ1 CLCNKB ARSA RYR1 PDE4D SLC12A1 FMR1 GNA11 TTR NFKB2 TNPO3 MUC1 SERPING1 KIT DBH SCNN1A SOX3 DCTN1 CYP11B2 ELP1 DAXX DHPS SPG11 CBL LEP HEXB LEPR TXNRD2 RUNX1 PROP1 EIF4G1 SRSF2 IL12RB1 HELLPAR HESX1 CHRNA3 SERPINA6 CASR COQ2 AIP SFTPB COL5A1 TBX19 LMNB1 GBA VHL PSAP ASXL1 PRKAG2 GIGYF2 SCNN1G KYNU AGT HMGCL LHX4 MEN1 MMEL1 GLI2 ATRX SNCA OTX2 SAA1 GMPPA SLC12A3 CDH23 CHCHD2 MC2R TNFSF15 STAR POU1F1 IRF5 VPS35 CFH SIM1 ALB ACE CYB561 DNAJC13 AGTR1 MRAP ATP7A FOXA2 GBE1 SFTPC POU2AF1 TET2 AAAS LRRK2 GSN CFI HSD3B2 SCNN1B COL5A2 REN NR3C2 SPIB ACAT1 CAV1 DDC NNT CD46 HP_AORTIC_ROOT_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AORTIC_ROOT_ANEURYSM PALS1 JARID2 TENT5A MYT1L TPM2 KMT2E KDELR2 COL1A1 TGFBR2 CCDC32 B3GALT6 B3GAT3 COL3A1 COL5A1 ZMIZ1 FBN1 FOXE3 MYH11 WASF1 PKD1 NTNG1 KANSL1 ENG ANGPTL6 SLC2A10 WDFY3 KCNH1 ERCC8 TGFB2 TGFB3 PGM3 MBTPS2 TRIP12 CHST3 SLC12A2 SVBP AFF4 TANC2 ACTA2 MED27 ROBO4 GRIA4 DNMT3A TGFBR1 DNAJB11 NKAP CNOT3 ACTL6B GANAB KCNMA1 HEY2 TCF20 LMNA MYLK SMAD2 HUWE1 KAT8 DPYSL5 HS2ST1 PRKG1 BPTF PKD2 ERCC6 BICC1 CARS1 MYPN PUS7 DDX6 PTPN23 MED13 UBR7 LOX COL1A2 FBN2 NTNG2 MAT2A PPP1CB PIGN ELN DOCK3 ALG9 THSD1 FMR1 RLIM SMAD3 ACTL6A MAPK8IP3 HPDL TGFBR3 MFAP5 HTT BCORL1 KDM4B AEBP1 TNRC6B PSMD12 COL5A2 TRMT1 TPM3 TRAPPC4 SATB1 FBXW11 AGO2 MADD SMAD4 HP_VASCULAR_DILATATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VASCULAR_DILATATION ATP7A TENT5A MYT1L RPL10 KMT2E COL1A1 CCDC32 ENPP1 GTF2I B3GALT6 COL3A1 PRKG1 FBLN5 PRKAR1A GTF2IRD1 GAA PTPN22 FBN1 SLC25A24 FOXE3 OFD1 NTNG1 KANSL1 ENG MMP23B CHRNG LRP5 RAF1 WDR19 SLC2A10 WDFY3 CRB2 PRKCSH ERCC8 TGFB2 SPTBN1 TGFB3 PGM3 ARF1 SPEN P4HA2 SMAD3 CHST3 SLC12A2 ACTA2 GGCX SEC63 IFIH1 FLNB ROBO4 SAMHD1 APC2 ELN GRIA4 DNAJB11 GMPPB RASA1 NOTCH1 EFEMP2 ACTL6B METTL27 GANAB TGFBR1 KCNMA1 TBL2 SEMA3E MLX HEY2 LMNA MFAP5 MYLK NF1 NSMCE2 ALDH18A1 FARSB HLA-B HUWE1 HS2ST1 RYR2 MKS1 BPTF CARS1 RERE PRKCZ SOX10 MYPN PUS7 PTPN23 TMTC3 BRAF TSC1 UBR7 LOX HLA-DRB1 TMEM67 PCNT COL1A2 PLOD1 TSC2 RNASEH2B PPP1CB ABCC6 PIGN SMAD6 MARS2 ZMPSTE24 LUZP1 THSD1 COL5A1 RLIM PEX12 NCF1 ACTL6A RFC2 MAPK8IP3 FLNA HPDL TGFBR3 DNAJC30 HNRNPK BCORL1 PTEN NEDD4L CRKL KDM4B AEBP1 BCR PSMD12 COL5A2 SALL4 TPM3 CHD7 ADAR BCL7B AGO2 MAP1B SMAD4 PALS1 JARID2 C12orf57 TPM2 PKP2 KDELR2 TGFBR2 RAI1 B3GAT3 RNASEH2C HGD NODAL ZMIZ1 CLIP2 MYH11 WASF1 ABHD11 PKD1 UBR1 RNASEH2A ANGPTL6 NSD1 TREX1 KCNH1 SEC61A1 EIF4H NPPA EPHB4 RIN2 LAT2 MBTPS2 STX1A KCNAB2 FMR1 NKX2-5 PBX1 TRIP12 SVBP AFF4 TANC2 NOD2 SETD2 MED27 UBE4B MYH3 DNMT3A IL12B CAVIN1 MED12 BUD23 GATA5 ARFGEF2 NKAP CNOT3 MAPK1 STAT1 LIMK1 TCF20 CLDN3 SKI PTPN11 PIGY BAZ1B SMAD2 KAT8 STAT3 DPYSL5 PKD2 ERCC6 BICC1 FBN2 HSPG2 DDX6 MED13 COL4A1 EXT1 CASZ1 PRDM16 NTNG2 MAT2A MNX1 LTBP4 GTF2IRD2 TONSL DOCK3 ALG9 FKBP6 PAM16 CLDN4 HTT VPS37D BRF1 MLXIPL NDE1 TNRC6B ERMARD PLOD3 TAB2 TRMT1 TMEM270 TRAPPC4 SATB1 FBXW11 GABRD PDPN BGN MADD EXT2 HP_VARICOSE_VEINS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VARICOSE_VEINS FIBP TBX1 SEC24C COL3A1 ENG SMAD3 CLCNKB ARVCF COMT PIK3CA FOXC2 KIF5A JMJD1C UFD1 VEGFC AEBP1 FLT4 RREB1 RASA1 PIEZO1 GJC2 GBA SLC29A3 SLC12A3 VHL HIRA G6PC3 NOTCH3 EPHB4 GP1BB HP_OVERRIDING_AORTA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERRIDING_AORTA BAZ1B LAT2 RAI1 STX1A NCF1 GTF2I RFC2 FKBP6 HCCS FGFR2 GTF2IRD1 CLDN4 DNAJC30 VPS37D CLIP2 MLXIPL COX7B ABHD11 NEK9 BUD23 NDUFB11 TMEM270 ELN METTL27 BCL7B TBL2 GTF2IRD2 LIMK1 CLDN3 EIF4H TGDS HP_ABNORMAL_VENOUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VENOUS_MORPHOLOGY FIBP PPARG ATP7A SEC24C RAI1 PRKACB CFAP221 CLCNKB COMT DNAH1 SMOC1 ODAD2 RSPH4A POLR3A LMNA KIF5A JMJD1C DNAAF2 SLC25A24 FADD FOS DNAH9 NDP FLT4 SRCAP MCIDAS ANTXR1 GBA SLC29A3 FOXF1 COL3A1 DNAAF4 TTC12 CAVIN1 PTEN DNAAF1 AGPAT2 DNAJB13 ATP6V0A2 SMAD3 CFAP300 PIK3CA CCNO GPR35 DRC1 CCDC65 TMEM260 FOXJ1 AKT1 SPAG1 COG4 FOXC2 AGGF1 ZMYND10 ALX4 DNAI1 RASA1 PIEZO1 TEK GJC2 NEK10 ODAD1 PDCD10 VHL HIRA RSPH3 SLC39A13 NOTCH3 EPHB4 PYCR1 DNAL1 BSCL2 GAS2L2 SPEF2 CWC27 TBX1 ENG DNAI2 CCDC39 NKX2-6 TCF4 WT1 PPP1R15B DNAAF6 BAP1 UFD1 KDM3B ODAD3 VEGFC RSPH9 PLOD1 MST1 ZNF699 MMP21 MSX2 DNAH11 DNAAF3 CCM2 RBM10 CCDC40 CCDC103 UQCRFS1 CAV1 GP1BB PROC PROS1 ATP6V1E1 GAS8 ARVCF PLXND1 SEMA4D RSPH1 DNAAF5 PTDSS1 KRIT1 OFD1 GNAQ AEBP1 ATP6V1A RREB1 ADH5 NME8 UBE2A DNAH5 SLC12A3 ODAD4 RPGR PRKCD G6PC3 GLMN SMG8 MED25 DNAAF11 CFAP298 LRRC56 HYDIN STK36 LEMD2 HP_DEEP_VENOUS_THROMBOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEEP_VENOUS_THROMBOSIS PROS1 SERPIND1 MTRR PMM2 EPAS1 HABP2 PROC F9 MMACHC PIEZO1 F13A1 MTHFR F5 UBA1 PLAT THBD SERPINC1 PIGA F2 ALG6 AKT1 HP_RIGHT_AORTIC_ARCH_WITH_MIRROR_IMAGE_BRANCHING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIGHT_AORTIC_ARCH_WITH_MIRROR_IMAGE_BRANCHING TBX1 CRELD1 DGCR8 DGCR6 STRA6 ESS2 DGCR2 HP_FAT_MALABSORPTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FAT_MALABSORPTION EPCAM ATP8B1 SAR1B AKR1D1 HLA-DQB1 ACOX2 SRP54 AMACR CCDC47 PRSS1 DZIP1L MTTP CYP7B1 ABCB11 SPINK1 PTF1A PKHD1 SBDS PNLIP PEX12 CTRC LBR FCGR2A TJP2 COX4I2 CFTR ANTXR2 EFL1 DNAJC21 HLA-DQA1 PRSS2 TGFB1 BAAT SHPK SLC7A7 HSD3B7 PTRH2 LIPA CLMP SLC51B SLC10A2 HP_VASCULITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VASCULITIS CASP10 SLC22A4 HLA-B PRTN3 NLRP3 NFKB2 MYD88 NFKBIL1 UBAC2 ACP5 IL10 HLA-DPA1 IL23R TNFSF12 IL12A SH2D1A PTPN22 WIPF1 RASGRP1 TNFRSF13B WAS SCN10A PNP HLA-DRB1 C4A MEFV ICOS DOCK8 CD81 CCR1 CD244 KLRC4 CIITA STAT4 TNFRSF13C FAS ARPC1B IL12A-AS1 SAMHD1 ADA2 MS4A1 OTULIN PRKCD CR2 SCN9A PGM3 IFIH1 HLA-DPB1 P4HA2 FASLG IL12RB1 SCN11A DNASE1L3 NOD2 IL12B ERAP1 TREX1 MVK CFI SYK CTLA4 XIAP TLR4 MLX NFKB1 TNFRSF1A CD19 HP_ARTERIOSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTERIOSCLEROSIS BRCC3 PPARG TGFBR2 ENPP1 HLA-DRB1 ERCC5 ABCA1 LCAT COL3A1 WRN GGCX LMNA NEU1 FBN1 SMARCAL1 KCNJ5 ABCG8 FOXE3 MYH11 ENG ANGPTL6 APOB ERCC8 APOA2 LIPC CSF2RB TGFB2 PCSK9 HTRA1 GHR ERCC2 TGFB3 BANF1 SMPD1 ABCC6 LIPA ACTA2 ABCG5 LDLRAP1 EPHX2 ESR1 HGD SERPIND1 SC5D TGFBR1 APOE GLB1 CEP19 APOA5 HEY2 MYLK CYP7A1 ERCC3 SMAD2 PRKG1 ALMS1 XYLT2 ERCC6 CAT LOX PNPLA2 NPC1 LDLR MAT2A PPP1R17 ZMPSTE24 ELN THSD1 XYLT1 SMAD3 AGXT TGFBR3 MFAP5 ZNF687 NPC2 TNXB ASAH1 CSF2RA ANTXR1 CYP27A1 ERCC4 SMAD4 HP_BUDD_CHIARI_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BUDD_CHIARI_SYNDROME MPL JAK2 PIGA CD55 F5 TET2 HP_HYPERTENSION_ASSOCIATED_WITH_PHEOCHROMOCYTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTENSION_ASSOCIATED_WITH_PHEOCHROMOCYTOMA EPAS1 SDHA SDHD MAX FH SDHC PRKAR1A SDHB VHL TMEM127 DNMT3A SLC25A11 KIF1B RET SDHAF2 DLST NF1 MDH2 HP_NEONATAL_RESPIRATORY_DISTRESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_RESPIRATORY_DISTRESS RSPH3 PTCD3 TENT5A SMPD4 KDELR2 COLQ GALK1 SRP54 CFAP221 DNAH1 ODAD2 RSPH4A KNSTRN ITGA3 PDHA1 DNAAF2 SLC13A5 SLC27A4 BIN1 COX14 COX6A2 DNAH9 SPOP SCN4A NR1H4 CHRNG CPT2 TRAF7 MCIDAS DPM2 SBDS GRM7 KIF22 FOXF1 ASCC1 ARSL ALG14 CUL7 DNAAF4 TTC12 SUCLG1 GLUL DNAAF1 MBTPS2 DNAJB13 MT-TT CFAP300 PLEC SHPK TOR1A CCNO NPHS1 DRC1 CCDC65 DNAAF6 SNRPB FOXJ1 KIAA0753 MYH3 SPAG1 CCDC40 CANT1 ZMYND10 DNAI1 PLAGL1 RUNX2 KAT6A NEK10 ODAD1 CSGALNACT1 RYR1 MYF6 FBN1 PIK3CD MADD XYLT1 DNAJC21 DNAL1 GAS2L2 SPEF2 NKX2-1 ATP8B1 SOX9 NDUFB10 DNAI2 CCDC39 SFTPB ZC4H2 UBE3B DNM2 PLCB3 ODAD3 RSPH9 CFAP298 ABCB11 DNAH11 DNAAF3 RALGAPA1 CCDC103 MLYCD ABCA3 PLPBP GAS8 LONP1 HYMAI RSPH1 DNAAF5 NSF OFD1 DNAH5 HSD3B2 LAMB2 ALDH7A1 NME8 MTM1 SMARCA2 ODAD4 RPGR TRIP4 MTMR14 DNAAF11 LRRC56 HYDIN RNF168 ABCB4 STK36 HP_ABNORMALITY_OF_PELVIC_GIRDLE_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PELVIC_GIRDLE_BONE_MORPHOLOGY ATR ATP7A DYNC2LI1 TRPS1 COL1A1 CCDC32 MKKS CCDC47 HERC2 IFNGR1 SLC18A3 TPM3 TRPV4 KMT2D TRIP11 B3GALT6 BMPER HNRNPK WDR19 RAB23 KANSL1 TPM2 PLEKHM1 GORAB NTRK1 RERE DLL1 TDGF1 OBSL1 WDFY3 MBTPS2 SMAD4 PPP2R5D RPS6KA3 SMOC1 ANKH MATN3 ANKRD11 SPEN SMAD3 SIX3 RBM8A CTSK MYH3 FLNB GPHN MYO9A NIN EYA1 RPS15A FOXH1 CSGALNACT1 NXN FGF8 KCNMA1 ALDH18A1 DYNC2H1 ERCC4 CRTAP MIR140 NGLY1 AKT1 HACD1 CANT1 GRIP1 HUWE1 FIG4 COL11A1 CTBP1 USP7 GLI2 PRKCZ GLI3 NDN RSPRY1 RMRP NANS VAC14 ROR2 MEG3 GPC3 ARSB PHEX DYNC2I1 LMNA EXT1 HYAL1 OSGEP COL1A2 NCF1 POP1 CREBBP NALCN TGIF1 GLRA1 GUSB TBX4 COL9A3 PIK3C2A SETBP1 AEBP1 YWHAE SNRPN COL9A1 CFAP410 SLC25A1 COL6A3 FLNA BCL7B CCN2 SLC35A3 PTCH1 DISP1 SELENON JARID2 BICRA B3GAT3 SHH SMAD6 FGFR3 ZMIZ1 DVL1 DCHS1 BRCA2 RECQL4 WDR35 PGAP2 GSC CHAT ELN KIF22 ADAMTS2 MAGEL2 NODAL GLI1 EIF4H FN1 MMP13 NKX3-2 PTPN22 POLR1A SVBP TOR1A AFF4 FUZ TANC2 PPP2R1A COL11A2 MED27 GMPPB IDUA ECEL1 COL10A1 BRD4 BUD23 HOXA11 RUNX2 VANGL1 COX8A RYR1 SNORD116-1 SLC39A13 CLDN3 ATN1 COL6A1 DDRGK1 PTPN2 SIX1 ATP6V1A MYH7 FANCB FGFR2 SERPINF1 HSPG2 TBCD EXOSC3 LARGE1 TBX15 KAT6B CLCN7 AMER1 DDR2 PWRN1 DPYSL5 VDR MKRN3 DOCK3 PWAR1 EXTL3 ATP6V1E1 GLE1 AP4M1 UNC45A SEC24D CENPJ TBXAS1 COL2A1 VPS13B CAV1 LRP5 BRCA1 TMEM270 SATB1 PDPN MYH8 CHRM3 RAD51C CEP120 SIM1 TRAPPC11 GPC4 PIGL TRAPPC2 POLR3A POR BMPR1B ATRIP IFT80 COMP SBDS ATAD1 NFIX FKBP10 TIMM22 IDS MYL2 TNNT3 TELO2 SLX4 ATP6V0A2 CHST3 NELFA GNPTG FGFR1 TNFRSF11A MBD5 MASP1 PTH1R SMO ERCC8 EED TMEM67 EZH2 EFEMP2 METTL27 PEPD SEC23A LMOD3 SLC6A9 SHOX SH3TC2 MUSK LMNB2 HS2ST1 ACP5 ZC4H2 TRAIP UBE3B ZBTB20 PUS7 COLEC11 PTEN UMPS SLC10A7 PLOD1 SH3PXD2B LUZP1 B2M RLIM FKRP OCA2 ACTL6A RFC2 AP3B1 MAPK8IP3 PIGW UBE2T TAF1 EBP ALG9 RAD51 TET3 INPPL1 IFT140 PIGG CD247 RAB11B GDF5 TMEM251 VPS33B ENPP1 COL12A1 STAG2 CLIP2 SMARCAL1 EVC FANCE ABHD11 DSTYK SNAP25 KDM6A LETM1 IFIH1 FANCI CCBE1 STX1A TTC21B TRIP12 CCDC8 NEPRO SNRPB PCYT1A ZIC2 COL5A1 FANCL CCR6 MYO18B SMC1A BGN IL6ST PYCR2 PIGY CLTCL1 HLA-DRB1 ATAD3A GNPTAB IFT172 HACE1 DDX6 MED13 RNU4ATAC VPS33A RIPK4 SMC3 ACTA1 CSPP1 GTF2IRD2 TGFBR2 STAT4 POMT1 SOST CHD4 HDAC6 VPS37D MAP3K20 PCNT MYBPC1 PPP2R3C TWIST1 FANCD2 SF3B4 WNT7A FAT4 KMT2E GTF2I SLC35D1 HDAC8 IRF5 IARS2 CFL2 RTL1 RBBP8 DDB1 MMP23B DNAJC21 RSPO2 MCTP2 GEMIN4 AP4S1 ZNF469 GPX4 SOX9 GALNS MAN2B1 DMP1 PYCR1 FREM2 OCRL GRIA4 CENPE AIFM1 GNPAT ACTL6B TBL2 RFWD3 TRAPPC12 EP300 SLC6A5 COG1 SATB2 BPTF SLC35A2 PTPN23 UBR7 KCNK4 HHAT PORCN ERGIC1 COLEC10 RINT1 COL13A1 FARS2 EXT2 FGFRL1 CPLX1 LBR KIAA0586 HPDL PHF6 PUF60 COL3A1 DNAJC30 SYT2 BCORL1 SLC26A2 KDM4B SRCAP PSMD12 COL5A2 MMP2 ANTXR1 ADA AGO2 ARNT2 EVC2 IFT52 POC1A SHROOM4 RAD21 ITGA7 DYM LMX1B SIL1 GMNN UFSP2 ORC1 WASF1 POMT2 MECOM EIF2AK3 KLHL41 CUL7 NSDHL COL9A2 MMP9 GJA1 CDON SEC31A ABCC9 FANCA SHPK RNF13 FHL1 DHCR7 FBLN5 UBE4B CDCA7 CCDC22 PLK4 CNOT3 TGFB1 TGFB2 TCF20 ABCC6 KAT8 AP4B1 VCP CCN6 NEB MRPS25 USP9X WNT3 TONSL FANCF ERCC1 PEX5 CHRNG PAM16 B3GLCT TTN INPP5K ERCC6 FZD2 TRMT1 WASHC5 TRAPPC4 HLA-B SLC5A7 FBXW11 CTC1 MADD NSD2 TENT5A MYT1L THOC2 LONP1 VIPAS39 GTF2IRD1 NTNG1 SLC2A10 PIGV EXOC6B COL6A2 IFITM5 GLB1 DHODH SLC12A2 AP4E1 BICD2 SCN9A WNT5A ADAMTSL2 DYNC2I2 GAS1 ARX NIPBL PIEZO2 XYLT1 WDR26 AARS1 IRX5 XRCC2 ANKRD55 IHH PLCB3 ZMPSTE24 HK1 INTU SMARCA2 AFF3 COG6 FANCC APC GLRB TNNI2 LRP4 IFT43 PGAP3 MAD2L2 PALS1 C12orf57 KDELR2 SRP54 LIFR KIAA0319L IL2RB IL2RA TRAF3IP1 FUT8 THRA LAT2 KCNAB2 AGRN CEP152 FBN1 KIF1A EIF4A3 RETREG1 LIMK1 TWIST2 SKI FRAS1 MTX2 PRDM5 BAZ1B PIGO GATA1 DVL3 KDM3B CASZ1 VAMP1 PRDM16 NTNG2 PTRH2 FLI1 PAFAH1B1 OFD1 RPS19 CD96 FKBP6 CLDN4 NPAP1 HTT FANCG MLXIPL FBLN1 TNRC6B BRIP1 MAP3K7 GABRD DLK1 IFT81 SNORD115-1 FANCM PALB2 PIGN WNK1 TNFRSF1A HP_WORMIAN_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WORMIAN_BONES TENT5A KDELR2 MESD COL1A2 NOTCH3 ATP6V0A2 HPGD BCL11B RTL1 HSPG2 MEG3 ATP7A SP7 TAPT1 SH3PXD2B RUNX2 NOTCH2 IFITM5 BMP1 THRA ALDH18A1 ZMPSTE24 P3H1 MBTPS2 LMNA CTSK PLOD2 PAM16 CHD4 SEC24D COL1A1 AFF4 SCN9A FKBP10 KIF1A GORAB SETBP1 RETREG1 P4HB AIFM1 PPIB LRP5 ARID2 FLNA PDGFRB DLK1 CRTAP WNK1 LEMD2 HP_AORTIC_DISSECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AORTIC_DISSECTION MYLK TENT5A ABCC6 KDELR2 SMAD2 TGFBR2 ENPP1 COL3A1 PRKG1 PTPN22 FBN1 FOXE3 MYH11 LOX HLA-DRB1 PLOD1 ENG MAT2A ANGPTL6 SMAD6 SLC2A10 ELN THSD1 TGFB2 SMAD3 TGFB3 MBTPS2 NKX2-5 P4HA2 SMAD4 TGFBR3 MFAP5 ACTA2 TGFBR1 GATA5 HLA-B NOTCH1 HEY2 BGN HP_SPONDYLOEPIMETAPHYSEAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONDYLOEPIMETAPHYSEAL_DYSPLASIA DYM RSPRY1 MMP13 DDR2 COL2A1 B3GALT6 AIFM1 NANS IARS2 BGN KIF22 EXOC6B MATN3 ACAN TONSL DDRGK1 PAPSS2 HP_SKELETAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKELETAL_DYSPLASIA CEP120 RNU4ATAC COL11A1 RPL10 DYNC2LI1 PEX6 LONP1 B3GALT6 LEMD3 IARS2 HS6ST1 KCNJ8 TRAPPC2 SEMA3A ALDH3A2 MMP13 TRPV4 TRIP11 GJA1 PEX1 TYROBP GNAS WDR19 DYM COL9A2 IFT80 COL2A1 ANOS1 ALG9 COMP SF3B4 DNAJC21 SBDS PEX26 EXOC6B GPX4 GLB1 CDH3 PROKR2 DYNC2I1 ACAN MATN3 ACTB EXTL3 TCOF1 PEX3 KRAS KANSL1 DMP1 ERF CDKN1C PEX10 PEX12 ACTG1 FGF8 DYNC2I2 COL11A2 POLE PTH1R B4GALT7 CHD7 AIFM1 SMO TMEM67 SFRP4 SOX10 SEC23A XYLT1 DYNC2H1 LIFR COL9A1 CWC27 NF1 FLNA AKT1 CANT1 DUSP6 TACR3 CCDC141 IDUA TREM2 ACP5 MAP3K7 PEX16 PEX5 FGF17 HSPG2 FAT4 LOXL3 PTEN ANKH RSPRY1 RMRP NANS ARSB HDAC6 LBR RUNX2 DPYD DCHS1 POP1 UFSP2 BMPR1B EFL1 COL9A3 SLC26A2 PEX19 PROK2 HESX1 CFAP410 ALG3 COL3A1 IFT140 FGFR1 ENPP1 PAPSS2 RECQL4 SRP54 IHH POLR1D EIF2AK3 PEX11B SMARCAL1 KIF7 WDR35 IL17RD KIF22 NOTCH2 DCC NLRP3 FN1 PHYH HSPA9 GLI3 FLRT3 NKX3-2 TTC21B PEX7 PCYT1A FGFR3 POLR1B COL10A1 BGN GDF5 TGFB1 TBXAS1 ALG6 DDRGK1 EPCAM ABCC9 NPR2 NDNF IFT172 VPS33A CCN6 WDR11 PIK3C2A DDR2 TMEM165 PEX2 PEX13 NEU1 STAC3 POLR1C CTSK PEX14 PAM16 FLNB CHST3 ANAPC1 MBTPS1 FEZF1 SEC24D SLC39A13 CTSA P4HB SPRY4 LTBP3 TONSL NMNAT1 HP_BONE_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BONE_PAIN TENT5A CYP2R1 VCP KDELR2 LEMD3 SLCO2A1 PTPN11 POLE CLCN5 GBA NDUFAF6 IDH1 TYROBP GNAS AGXT KIT ELANE CA2 CBL NOTCH2 WNT1 FIP1L1 SERPINF2 MBTPS2 RUNX1 SRSF2 VDR ZBTB16 FGF23 DMP1 NABP1 TEK SQSTM1 SLC34A3 TNFSF11 FOXE1 DKK1 TNFRSF11A RARA CYP19A1 SNX10 MINPP1 BCOR TGFB1 NPM1 LPIN2 ASXL1 CLCN7 PSMB8 PTH1R SLC34A1 KIF1B TET2 TREM2 CYP27B1 EHHADH CCND1 CDC73 TBL1XR1 IDH2 STAT5B TNFRSF1A AP2S1 PHEX PRKAR1A EXT1 ATP7B WNT3A HPGD CTSK TCIRG1 TRPS1 GATM PSAP ZNF687 HABP2 SCARB2 NUMA1 STAT3 PML IRF2BP2 ENPP1 HP_MULTIPLE_EPIPHYSEAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_EPIPHYSEAL_DYSPLASIA MATN3 PHYH COL2A1 COL9A1 RNU4ATAC TRAPPC2 EIF2AK3 PEX7 SLC26A2 KIF7 HP_SPONDYLOEPIPHYSEAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONDYLOEPIPHYSEAL_DYSPLASIA ACAN RNU4ATAC RPL10 COL11A1 TRAPPC2 TRPV4 CHST3 MBTPS1 COL2A1 SMARCAL1 CCN6 IARS2 NMNAT1 HP_EPIPHYSEAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPIPHYSEAL_DYSPLASIA PTH1R COL9A1 B3GALT6 RNU4ATAC COL11A1 MATN3 HSPA9 CANT1 DPYD EXTL3 NPR2 COL11A2 COL2A1 FLNB COL9A3 SLC26A2 COL9A2 LOXL3 TRPV4 DYM TMEM165 COMP KIF22 CDKN1C ARSB EIF2AK3 LTBP3 XYLT1 HP_SPONDYLOMETAPHYSEAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONDYLOMETAPHYSEAL_DYSPLASIA PAM16 TRPV4 COL2A1 TRIP11 GPX4 CFAP410 PCYT1A FN1 ACP5 HP_INCREASED_SUSCEPTIBILITY_TO_FRACTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SUSCEPTIBILITY_TO_FRACTURES TENT5A B3GALT6 NRAS LEMD3 PANK2 HS6ST1 SEMA3A LRP5 POR CLCN5 NDUFAF6 TERT GNAS AGXT KIT CDKN2B GORAB ANOS1 NTRK1 CA2 TERC NGF CBL TCIRG1 IFITM5 CHEK2 WNT1 SGMS2 PROKR2 ANTXR2 FKBP10 SOX9 PTEN TNFRSF11A IER3IP1 P4HB NHP2 TNFRSF11B SRSF2 CHST3 AGA PYCR1 SQSTM1 ZNF469 COL1A1 TNFSF11 SPTLC2 GBA OCRL ZFHX2 SC5D LMOD3 FGF8 CYP2R1 CHD7 MPV17 SNX10 SLC34A3 EFEMP2 NFIX SOX10 ASXL1 CLCN7 BRAF CRTAP SLC34A1 LIFR FZD4 NGLY1 DUSP6 TACR3 SCN9A CCDC141 SATB2 CYP27B1 TREM2 FGF17 SMS TP53 PARN CBS DKC1 NOP10 FGFR1 PLEKHM1 SLC37A4 MTAP ATL3 STAT3 CTNND2 CHRND YY1AP1 B2M ATP7B LBR SLC7A7 NEB WNT3A TINF2 CASR RB1 ELP1 KIF1A TET2 VCP COL2A1 GATM ALPL ZNF687 USP8 NPM1 GK PROK2 SLC9A3R1 HESX1 FN1 HRAS NOTCH2 PPIB SCARB2 CHRNG SEMA5A CYP27A1 ANO5 KLHL41 RECQL4 KDELR2 B3GAT3 TYROBP FGFR2 CDKN1B SLC4A1 IL17RD MYH3 SLC29A3 ACTA1 ASCC1 ATP7A RUNX2 DCC RIN2 MBTPS2 RUNX1 FLRT3 IDH1 VDR CTNNB1 FOXE1 FBLN5 WNK1 TIMM8A TMEM38B DKK1 PDE8B MINPP1 HNRNPA2B1 LPIN2 COL1A2 KRAS MMP14 PRDM5 HNRNPA1 MOGS CLTCL1 SERPINF1 MESD NDNF PDE11A GNPTAB ATL1 TBCD EHHADH TRIP11 CCND1 WDR11 TPM3 HBB RTEL1 SMPD1 B4GALT7 WRAP53 UROS PTH1R USB1 EXOC6B TAPT1 KCNJ6 P3H1 CHRNA1 CTSK CDKN2C PLOD2 TRPV6 PRKAR1A RETREG1 MEN1 UNC45A CTC1 CDKN1A FEZF1 KLHL40 SEC24D PRKACA CDH23 PLOD3 IDH2 HABP2 SPTLC1 GLE1 TRIP4 MMP2 SPRY4 HP_PAINLESS_FRACTURES_DUE_TO_INJURY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAINLESS_FRACTURES_DUE_TO_INJURY RETREG1 KIF1A ZFHX2 NGF MPV17 SCN9A NTRK1 WNK1 HP_DELAYED_EPIPHYSEAL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_EPIPHYSEAL_OSSIFICATION PTH1R RNU4ATAC CYP2R1 MATN3 GPX4 CLCN5 COMP IYD TRPV4 PROP1 VDR LHX4 KCNH1 TG SLC5A5 SLC34A3 B3GALT6 CYP27B1 COL2A1 PISD COL9A3 TSHB KIF7 TPO DDRGK1 ESR1 TSHR POU1F1 LHX3 DUOX2 DUOXA2 CYP19A1 HESX1 KIF22 MIR140 TONSL HP_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM SDHD POT1 NF1 NRAS PALB2 LEMD3 BUB1B ALX3 MAFA FLI1 RSPO1 SMAD4 LAMB3 NDP MT-TP TP53 TCTN3 H19 FH RTEL1 APC PIK3CA SPEN MAP2K1 KRAS GJB2 IL2RG AIP SAMHD1 PDGFRB EYA1 GNB1 BARD1 MRE11 ACVRL1 PHOX2B MAP2K2 TGFBR1 RB1 WRAP53 SRP54 SEMA3C GATA2 CHIC2 DIS3L2 HSPA9 CDON HFE PRKCZ MSH3 CHEK2 PARN STAT6 PDX1 MPL RSPRY1 TYR MAP3K1 RFWD3 ZSWIM6 MEG3 CBL BMPR1A IKZF3 AHCY ERCC2 MSH2 MYH8 EWSR1 EXT1 ERBB2 RPS29 RPS10 LMOD1 LRP1 PTCH1 HNF1B ATP7A BMPR1B SUFU CDKN2A PPOX KIT SETBP1 TMC8 OGG1 MDM2 RPS24 ARID2 L2HGDH PTPN11 SDHC FAT4 FAH DMPK POLD1 CDKN1B MAX SHOC2 ARID1B KRT17 GLI1 SRP72 CEL NTHL1 ATR MGMT TNFRSF10B FOXE1 CD27 GJC2 FN1 EIF2AK4 MEFV PSAP GLI2 GNAS ABCA5 MLH1 MDM4 RAD54L MUTYH CCND1 HSPG2 JAK2 FGFR3 DZIP1L GCM2 CDC73 FERMT1 BTK REST BRD4 SOX9 SMPD1 DISP1 HNF1A IRF5 KCNN3 MET RUNX1 PLAG1 POLR1C SREBF1 CDKN1A FLT3 POFUT1 G6PC1 CDH23 FAS BCL10 TBXT PNP RAD51C RPS28 BUB3 MYD88 PTEN RPL18 BAP1 IGF2 ICOS VHL CD81 ATM CYP11B1 KCNQ1OT1 FANCA AKT1 GLI3 CXCR4 ZIC2 TCOF1 SDHB SLX4 ALX1 TMEM127 FASLG SQSTM1 RRAS2 SNAI2 XRCC3 RNF113A VAMP7 BLM PIGL CD4 SEC23A BRAF WT1 CD19 DNMT3A PDGFRA CTPS1 WDPCP PDGFB ATRX CAT GNA11 RPS20 CARMIL2 ABCC6 ABCC8 PDE6D XPA SLC37A4 IDH1 TFAP2A GDNF MVK ESR1 TRAF7 MMP1 IKBKG PYGL DNAJC21 TRPS1 TRIM37 UBE2T TTC37 USP8 DDB2 CRKL DICER1 WNT10A CPLANE1 VANGL1 PIGG SLC26A4 MEN1 MT-RNR1 CLCNKB BRCA2 RASGRP1 TNPO3 EVC F5 RHBDF2 PKD1 TET2 DKC1 IKZF1 FGFR1 SCN4A LETM1 CASP10 FLCN SMARCE1 MSH6 SPINK1 TBX18 GJA1 TMEM216 SAMD9 RPS19 BUB1 EPHB2 SMARCA4 FANCL ABL1 MAPK1 OFD1 RNF6 FAM20C SIX6 POLH EDN3 CASP8 TMEM107 RPL11 TCF4 PKD2 BICC1 TNFSF12 ACAN WIPF1 PMS1 SCN10A POGLUT1 ABCB11 CBFB FGF8 AP2S1 ESCO2 FGFR2 RPL10 DYNC2H1 GNAQ POR TCF3 COL7A1 KRIT1 HRAS TERC MAPRE2 IDH2 GPC6 HBB RET RMRP SPIB FANCD2 MC1R KDSR KAT6B KRT6A SH3GL1 FCHO1 MSR1 WRN ATP7B LMNA KRT6B FOXI1 TNFRSF13B TERT RAF1 NR5A1 C2CD3 IL7 SPTBN1 RAD51 DCLRE1C TGFBR2 PMS2 CDH1 TSC2 CDK4 MFN2 MGAT2 MITF MT-TF GPC4 RNF139 PLCD1 AXIN2 SAMD9L PDGFRL IL7R TUBB RERE PRCC TSC1 SLC45A2 TERF2IP MVD PAX6 DOCK8 CCM2 SOX6 MNX1 DPM1 CR2 NODAL SMARCC2 BRIP1 COL4A5 TMEM67 CTLA4 ADH5 SRSF2 SLC26A2 ANTXR1 C1S RECQL4 SHH STK11 ERCC5 RPL27 POLR1D CTNNB1 GJB4 NAB2 KCNJ10 MT-TQ ZFPM2 NPM1 INPP5E SCN9A DDX41 CDKN1C HNF4A DHCR7 PRKN UBE4B NF2 RASA1 FUZ ING1 PIEZO2 SMO CREBBP TMC6 ARL6IP6 MYSM1 GCDH NKX2-1 KRT1 MST1R SMAD7 GTF2E2 GNA14 LRBA ASCL1 MSX2 FAN1 MS4A1 ZFTA EPAS1 FANCF HPGD XRCC4 MYC KCNH1 KIAA0753 LIG4 DLL1 SDHAF2 PTPN3 ASPSCR1 FZD2 CALR LRP5 SOS1 PRKAR1A STS EXT2 FIBP RNF43 ENPP1 GFI1 STK4 CLCN2 KIF11 NBEAL2 MAD1L1 TYROBP SLC6A17 SIX3 KLHDC8B ELMO2 RPL35 EPCAM ACTB RPL35A PKHD1 CYLD EDN1 TPP2 PGM3 SMARCAD1 KANSL1 WNT5A NLRP1 SMARCB1 SSX1 COL11A2 TNFRSF13C SRY ASXL1 POU6F2 PTH1R OPCML GREM1 XRCC2 TBX2 FDPS AXIN1 BCR GATA1 NOP10 DLST ERCC6 ALAD NR4A3 ADAMTS3 YY1 CD28 RAD54B FANCC SEMA4D MSL3 EFL1 LAMA3 GDF2 GINS1 SMARCD1 TCIRG1 RABL3 STAG3 MAD2L2 SOX4 ARSA SMARCD2 KRT16 BIN1 LMO1 BRCA1 AAGAB DYNC2LI1 TMEM231 CDKN2B TLR2 FLNA SEMA3D NBN NEUROD1 MSTO1 MCC RPS7 CIB1 MUC5B CCBE1 SERPINA1 RYR1 MMEL1 MT-TK TNFRSF4 MST1 CYP11B2 USB1 MLH3 RAD50 POLE FOXP1 HLA-DRB1 PRKCD GCGR FANCG SFTPC GPC3 XIAP PRF1 GABRD DLK1 FANCM SDHA PSENEN SH3KBP1 SF3B1 ERCC3 RAD51D ENG PRLR VPS16 BMPER GJB6 TJP2 AR KCNJ11 SH2B3 PBRM1 DHCR24 ARHGAP26 CTSA ZFHX3 CREB1 IFIH1 KLF6 DNAJB11 MN1 INS STAT3 RPS27 ERCC4 DHH MAP3K8 PHKG2 CTBP1 PTCH2 SEMA4A ELANE CPOX STAR DLEC1 IL6 MTAP LPP LZTS1 LAMC2 DCC MINPP1 MRAP MYO1H OCA2 TFE3 CD79A FLT4 ACD CD96 CYP2D6 NFKB1 MYLK MDH2 MYH11 NFKB2 SOCS1 DVL1 COL2A1 FCN3 IGLL1 MPLKIP HABP2 PPM1D CARD14 NSD1 PHB SLC17A9 TRIP13 NEK1 JAG1 TINF2 POLR1B EGFR KIF1B TARS1 ALX4 CC2D2A SIX1 ACTG2 BDNF FANCB TAF15 RPS14 KRT10 SRGAP1 PMVK CEBPA FANCE EXTL3 CDKN2C XPC MT-TS2 SOX2 CCL2 MLLT10 PDPN GATA4 KEAP1 SLCO2A1 ATP2A2 PCNA BCHE NAGS BCL6 PHF21A SBDS TG CASR COL1A1 NELFA TEK RNASEL FOXC2 CD70 TGIF1 ECE1 MYF6 MT-TH IGF2R SHOX GJB3 RAG1 RAD21 ACP5 SPRTN IRF1 HMBS NOTCH3 TNFSF15 IFNG RAG2 LUZP1 RPS26 SSX2 FOXO1 SLC25A11 IL1RN CTSC ITK PPP2R1B USF3 SEC23B ARID1A SRC AURKA SLC2A2 RNASEH2C RB1CC1 WAS KLLN RNASEH2A IL1B COL14A1 FANCI MBTPS2 TAL1 BMP2 ACVR1 DDR2 IL12RB1 NRTN ABCB4 NUTM1 MT-TL1 PDCD10 NEK9 SKIV2L MTOR FGF3 KLF11 HACE1 GNAI3 GNPTAB APPL1 KDR DNM2 THPO IGHM PTPN12 BCL2 RHOH ARMC5 ADA POU2AF1 KCNE3 ANAPC1 F13B CTHRC1 SLC22A18 PLA2G2A TWIST1 TREX1 STIM1 TRPV3 PALLD B3GALT6 UROS ADA2 RTL1 HOXD13 GPR101 MMP23B ZAP70 TOP2A F13A1 IVNS1ABP ECM1 PLCB4 NHP2 PIK3R1 PTPRJ CYP26C1 RPGRIP1L TRIM28 TP63 DLC1 DMRT3 MCM4 NOTCH1 EP300 ALK NUMA1 ASCC1 PORCN VEGFC FOXH1 PPP1CB RELA FGFRL1 WWOX CPLX1 COL18A1 VANGL2 RPL26 TAF1 UBA1 ADAR OCRL GTF2H5 MTMR14 PAX3 HLA-DQB1 IL12A MAGT1 ERBB3 BIRC3 PHKA2 CYSLTR2 MTM1 SASH1 ETV6 GPR143 ATP6V1B2 NSUN2 RPL15 NOD2 SETD2 LZTR1 ABCD1 STIL CCDC22 HMMR MXI1 GDF5 CACNA1S TBC1D24 KIF7 MALT1 KRT14 UROD KRT5 KCNQ1 EVC2 SLC25A13 RPL31 LIN28B BAX HAX1 PUF60 USP9X ALG9 NUP214 CHRNG TDGF1 CTC1 NR0B1 GCK WASHC5 RPS17 SOX11 HS2ST1 NSD2 TENT5A RPS15A NQO2 DNASE1L3 GPR35 TSR2 APC2 PICALM DPF2 SYK GANAB ANTXR2 TAL2 TREM2 HDAC4 BLK RPL5 TNFRSF1B PAX4 MC2R RNASEH2B KARS1 LRRC8A CHD7 COL4A6 INTU RARA SCN11A FAM149B1 MT-ND5 EPHB4 SLC12A3 NNT GAS1 KRT9 KDELR2 EDNRB SH2D1A PCGF2 CD79B DAXX NDUFAF6 TXNRD2 STAC3 KCNAB2 SFTPA2 SPRED1 PAX7 SMARCAL1 AGGF1 STAT1 MT-TS1 SKI KDM6B BLNK GBA DVL3 PERP MYCN CEP57 CASZ1 PRDM16 HLA-DQA1 SRD5A3 DHX37 CYP2A6 HP_LYMPHOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LYMPHOMA RB1 TNFRSF13B BCL10 NRAS RECQL4 RNF43 HLA-DQB1 FCHO1 NFKB2 MYD88 RASGRP1 SOCS1 KIF11 SH2D1A BCL6 MAGT1 KRAS WAS TERT KIT BIRC3 KLHDC8B ICOS CD81 AAGAB ZAP70 TERC CASP10 ATM PMS2 COL14A1 FAS RUNX1 DCLRE1C NHP2 CR2 PGM3 NBN PIK3R1 TET2 DDX41 NTHL1 NSUN2 TP53 TP63 LIG4 DNASE1L3 IL2RG SMARCAL1 CD27 CD19 CD70 SYK TNFRSF13C STAT3 BLM ASXL1 MLH1 APC TCF4 IL7R MALT1 RAG1 CCND1 TNFSF12 WIPF1 CHEK2 PARN PNP RAD54L RTEL1 CD28 TNFRSF1B DKC1 LRBA NOP10 WRAP53 CHD7 BCL2 USB1 IKZF3 CTLA4 RHOH RAG2 MS4A1 MSH6 FOXP1 HLA-DRB1 PRKCD TINF2 HLA-DQA1 XRCC4 POLE ADA CTC1 FASLG NPM1 PTEN ITK CDKN2A RAD54B SRSF2 MDM2 RMRP MYC XIAP PRF1 NFKB1 HP_PHEOCHROMOCYTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHEOCHROMOCYTOMA EPAS1 NF1 SDHA SDHD MAX FH SDHC CDKN2C PRKAR1A SDHB DLST VHL TMEM127 MEN1 CDKN1A DNMT3A SLC25A11 RET TSC1 CDKN2B KIF1B CDKN1B SDHAF2 TSC2 CCND1 MDH2 HP_PARAGANGLIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARAGANGLIOMA SDHD EPAS1 NF1 SDHA MAX FH SDHC DLST SDHB VHL TMEM127 SLC25A11 DNMT3A ATRX KIF1B RET SDHAF2 CCND1 DAXX MDH2 HP_OSTEOSARCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOSARCOMA RPS29 RB1 RPS28 RPL11 RECQL4 RPS10 RPS19 GATA1 CHEK2 RPS26 RPS15A TP53 RPL27 ADA2 RPL26 WRN SQSTM1 LMNA RPL18 RPL15 ANAPC1 TSR2 RPS20 RPL5 CDKN2A RPS7 RPL31 MDM2 RPL35 RPS17 MTAP RPS27 RPL35A RPS24 HP_BASAL_CELL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BASAL_CELL_CARCINOMA PTCH2 TMC6 ERCC3 APC RECQL4 ERCC5 KEAP1 BMPR1A NRAS MLH1 WNT10A SUFU RASGRP1 SEMA4A PMS1 PTCH1 ERCC2 KRAS RPS20 RASA1 TYR DICER1 AAGAB CASP10 FAN1 MSH2 COL14A1 FAS MSH6 CYLD PRKCD PIK3CA TGFBR2 SMO NTHL1 PMS2 XPC ANAPC1 FASLG OCA2 MLH3 POLH EPCAM CIB1 HRAS MC1R DDB2 LMNA ERCC4 HP_GASTROINTESTINAL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROINTESTINAL_CARCINOMA SRC RPS28 RPL11 APC GREM1 AURKA RPS15A RPL27 MUTYH TCF4 ADA2 BUB1B WRN RPL18 CHEK2 BAX FLCN RPS20 TP53 RPL5 POLD1 RPL31 MST1 MLH1 AAGAB PTPN12 MLH3 RPL35 EPCAM SMAD4 BMPR1A AKT1 RPL35A FGFR3 MSH2 COL14A1 STK11 TLR2 POLE RPS29 DCC PIK3CA RPS10 GATA1 RPS26 PTPRJ RAD54B NTHL1 RPL26 SEMA4D CCND1 RPL15 TGFBR2 GPR35 TSR2 RPS19 DLC1 BUB1 MCC MSH6 RPS7 NRAS PLA2G2A CTNNB1 EP300 RPS17 RPS27 PDGFRL RPS24 PMS2 AXIN2 BRAF HP_COXA_VALGA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COXA_VALGA MIR140 ATP7A ADAMTSL2 XYLT1 NGLY1 OTUD5 GLB1 ABCC9 SIL1 COL9A3 CCDC47 KCNJ8 FLNA COG1 PDE4D SLC12A2 SLC35A2 DVL1 GLI3 DVL3 ORC1 RTL1 HSPG2 KDELR2 EXT1 ENPP1 RAB23 SLC10A7 COL9A1 FUCA1 ARCN1 STXBP1 COL1A1 B4GALT7 MEG3 ZMPSTE24 TRIP11 ADAMTS2 SLC2A10 SHOX EIF2AK3 IFIH1 RPS6KA3 LMNA LMX1B CANT1 COL9A2 AFF3 EXTL3 POP1 GALNS MAN2B1 COL1A2 COL11A1 ATRX ERCC6 COL2A1 RBM8A IDUA WNT5A B3GALT6 NFIX MGAT2 COG4 COG8 CRKL BCR INPP5K FZD2 BGN EED EZH2 MAPK1 TGFB1 ARID1B DLK1 TGFB3 GTF2E2 EXT2 HP_CLOVERLEAF_SKULL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLOVERLEAF_SKULL FGFR3 FGFR2 RAB23 WDR35 MEGF8 FGFR1 POR EXTL3 HP_SKULL_ASYMMETRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKULL_ASYMMETRY FGFR2 TWIST1 MASP1 FTO RSPRY1 HP_ABNORMAL_SELLA_TURCICA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SELLA_TURCICA_MORPHOLOGY DYM PTCH2 TRIM37 NKX2-1 ADAMTSL2 CDH11 MAN2B1 OBSL1 GNPTAB GUSB ABCC9 SUFU LHX4 IDUA BMP4 RMRP TSHB VPS33A MAF PCNT SLC17A5 PLOD3 NOTCH2 ZSWIM6 STUB1 PTCH1 GLB1 MTX2 HP_J_SHAPED_SELLA_TURCICA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_J_SHAPED_SELLA_TURCICA MAF TRIM37 ADAMTSL2 SLC17A5 PLOD3 OBSL1 GNPTAB GUSB IDUA RMRP VPS33A MTX2 HP_DEFORMED_SELLA_TURCICA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEFORMED_SELLA_TURCICA DYM MAF PTCH2 TRIM37 ADAMTSL2 SLC17A5 PLOD3 OBSL1 GNPTAB GUSB NOTCH2 SUFU IDUA PTCH1 RMRP VPS33A MTX2 HP_ABNORMALITY_OF_THE_CALVARIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CALVARIA ERCC2 ATR ATP7A FOXE1 NRAS SATB1 PIGA LEMD3 DIS3L2 BUB1B TENT5A CCDC47 PDHB SUFU HERC2 HPGD DPM1 BMPER TUBGCP6 HNRNPK PEX13 METTL23 RAB23 KANSL1 GNAS TCTN3 RERE OBSL1 MBTPS2 KMT2C SMAD4 PPP2R5D ABCC8 RPS6KA3 DHCR24 CEP41 SMOC1 BRAF NAA10 GATA5 ANKRD11 SPEN TNFRSF11B PEX3 SMAD3 ITGB4 KRAS MAP1B AGA ZEB2 CTSK PEX12 AIP IFIH1 FLNB FAM111A TWIST1 SAMHD1 AKT1 TSHB COG4 FGFR3 TECPR2 LMOD3 NKX2-5 POU1F1 INPP5E CSGALNACT1 NXN EDARADD TUBB3 ALDH18A1 DYNC2H1 ERCC4 MAP2K2 CRTAP CHST14 MIR140 TMEM70 SNRPN TCTN1 RAC3 GRIP1 FIG4 COL11A1 KCNJ2 CTBP1 NOTCH3 USP7 PRKCZ ACTB PLAG1 CYP27B1 PEX6 OTUD6B NDN FAT4 SHH PEX5 SIK3 ARCN1 RSPRY1 FGFR2 PDHX STXBP1 NANS VAC14 ZNF699 HNRNPU CTCF ROR2 ZSWIM6 EFTUD2 MEG3 TRIP11 ZIC1 CDT1 MED12 ARSB PEX7 LRP4 EHMT1 STAT3 MTOR PQBP1 PHEX GLIS3 PIK3CA GJA5 AP1S2 PTCH1 ZDHHC9 COL1A2 TMEM237 MEGF8 HYMAI POLE KIF15 ZIC2 ATP6V1B2 CNTN1 DPH1 PEX19 UGDH SETBP1 B3GALT6 YWHAE GNS PPIB CD96 TNFRSF11A KCNJ11 FLNA PTEN NFKB1 CHN1 CHUK KLHL41 EPB41L1 TBL1XR1 BICRA SNAP29 UBE3B PPP1R21 NTNG2 IYD B3GAT3 NFKB2 BUB1 AHI1 COMT PREPL GYPC COX5A RAB3GAP2 EPB41 DONSON PDE4D DVL1 PLA2G6 ATRX DCHS1 BRCA2 C12orf57 GDF1 RECQL4 POR MPLKIP FBXL4 CDC45 PTCH2 WDR35 CDK10 PGAP2 FUCA1 GDF11 ORC4 KIAA1109 NSD1 ANTXR1 GBA TBCE GCK ERF HEPHL1 ZNF142 LMX1B HRAS ITCH HMGA2 KIDINS220 CITED2 NONO NEK1 MSX2 CDH11 TOR1A LIG4 AFF4 SLC34A3 PPP2R1A FGFR1 CA2 CRPPA POLR1B PDX1 IDUA BRD4 TARS1 MTX2 ALX4 FREM1 TSHR RUNX2 KAT6A PI4KA DPYS RAI1 FBN1 HIRA SNORD116-1 SLC39A13 GLI2 SLC39A8 NPR2 CYFIP2 TBX1 PTDSS1 CC2D2A SLC12A6 SETD5 FANCB TBX4 MED27 H19 HSPG2 PHGDH DLL4 TAB2 TBCD BCL11B SLC26A2 KIF7 TBX15 SMG9 FERMT1 MAP2K1 ZMPSTE24 AMER1 DDR2 SMC1A PWRN1 KDM5B ADAMTS10 DPYSL5 PIGO VDR DISP1 ETFB CASK ERMARD NKX2-1 PHF6 MKRN3 D2HGDH PWAR1 EXTL3 GLI3 ADAT3 ATP6V1E1 P3H1 NOTCH1 ACE POLR1C PNPLA6 LMNA PLOD2 SEC24D TBXAS1 SOX2 KLHL40 TPO JAG1 EIF5A CEP57 BRCA1 DMP1 EXOC8 LRP5 SLC29A3 MN1 PDPN KYNU RAF1 CHD1 IQSEC2 RAD51C GJB6 RPL10 KIF11 BUB3 KCNJ1 AHDC1 PIGL POLR3A RIPPLY2 ARMC9 DEAF1 KAT6B PEX1 PHF21A SLC25A24 ABCC9 ESCO2 TCF12 NPHP3 SC5D KMT2A ATRIP ICOS CHRNG CD81 PEX26 TCIRG1 KCNQ1OT1 RTTN COL1A1 TRIO IDS ADSL PEX14 PPP2CA MESP2 IFT43 SMC3 TCOF1 TMEM216 SLX4 LHX4 ATP6V0A2 ALX1 CHST3 NELFA IFT80 MID1 TNFSF11 BMP4 GORAB PRKAR1A NFKBIA SNAI2 RNF135 CYP2R1 MGAT2 MBD5 CEP104 MASP1 ERCC8 FTO TMEM67 RNF113A ARID2 CEP120 TGFBR1 NFIX MAPK1 SIX3 CDC6 ARID1B BLM SEC23A CLCN7 MADD TRAPPC9 NALCN SLC6A9 RELN CD19 SHOX CUL4B LMNB2 PPP1R12A SMAD6 EDA MAP3K7 SPRTN CWC27 TRAIP ZBTB20 SON COLEC11 TUBGCP4 CYP26B1 ANKH MVK BMS1 DUOX2 PLOD1 ERCC6 ERCC3 HESX1 PDE6D XPA SPECC1L PPP3CA SH3PXD2B TFAP2A LUZP1 SRD5A3 WDR19 GJA1 KDM4B GNE ALG1 WNT5A TRIM37 PIGW XPC KCNJ5 VCP FKBP10 IGF2 UBE2T TAF1 B3GLCT EBP PIGQ SLC3A1 DDB2 SPTB DICER1 ALG9 RAD51 IFT122 TET3 NOTCH2 WAC RBM8A INPPL1 GATA4 DDX6 PIGG TGFB3 GTF2E2 IL11RA SOST DHX37 MEN1 RNASEH2C NGLY1 DLX3 PRUNE1 KMT2E DMXL2 FANCE RMRP POGZ NID1 SCUBE3 OPHN1 RNASEH2A CKAP2L PIGT LETM1 SLC26A4 PAX8 NLRP3 FANCI VARS1 CAMKMT CCBE1 CR2 PEX2 GJA8 MITF CCDC8 NEPRO MOCS2 HES7 CPLANE1 FANCL ACTA1 SOX5 AKT3 BPNT2 CHSY1 KATNIP ASXL1 ALPL ANKRD17 IL6ST SALL4 OFD1 FAM20C SIX6 MMP14 RPGRIP1L ALMS1 GNPTAB TNFSF12 ACAN UFD1 RNU4ATAC DDX59 KDELR2 MAF FBN2 SNX10 KIF1A GALNT2 RALGAPA1 PTH1R FGF8 CSPP1 SP7 TAPT1 SGSH TGFBR2 TBX6 GP1BB STAC3 SKI RNF125 CTSD TMEM231 CHD4 HDAC6 DOCK6 SPTA1 RAB39B RAB3GAP1 EDA2R NPHP1 GPC6 HBB ORC6 FOXG1 FANCD2 PDGFRB BGN WNT7A EXT2 LMNB1 SLC35D1 HDAC8 SATB2 GNB2 LFNG INTS1 TNFRSF13B RTL1 MAN1B1 IKBKG RBBP8 HOXD13 SPOP GPR101 PEX10 DDB1 MMP23B MCTP2 C2CD3 CRIPT SH2B1 GPX4 SGMS2 SPTBN1 P4HB CTNS BANF1 PTHLH MAN2B1 RAB18 FZD2 CDKN1C ATIC ARHGEF9 KIAA0753 FREM2 EFNB1 ARL13B ADK CENPE B9D2 NUP188 DDX3X PLAGL1 AIFM1 GNPAT ERCC1 SFRP4 SHANK3 RFWD3 PYCR1 ZNF423 CBY1 ARL3 SYT1 NKX2-6 FBXO11 OTUD5 EDAR PEX16 SLC35A2 SMS TUBB ERGIC1 SMO COLEC10 LHX3 PPP1CB PIGN UNC80 ADNP DVL3 FGFRL1 DPM2 SOX6 CPLX1 COL18A1 HUWE1 AGTR1 KIAA0586 PDHA1 GMNN FH CDH2 HDAC4 ATP6V1A ADH5 REN MMP2 MPDZ ADAR OCRL GTF2H5 PTPN11 AUTS2 SETD1A IFT52 RAD21 ENPP1 TALDO1 DYM SEC24C PURA NEB POLR1D RPS23 TMEM138 INTU SLC5A5 PSAT1 JMJD1C PRPS1 ORC1 TLK2 ERCC5 ACTG1 RNF216 CNTNAP1 DYNC1H1 TCTN2 SET UBR1 NOVA2 WBP11 TREX1 DENND5A NIPBL RYR1 CUL7 OCA2 STAG2 GRIA3 SLC35A1 FMR1 NSUN2 FANCA SHPK UBE3A HERC1 FHL1 SETD2 UBE4B MYH3 STIL CCDC22 CEP290 PLK4 FRMPD4 TGFB1 PIBF1 TGFB2 MAGEL2 PIK3CD SCARF2 PIEZO2 TFAP2B AASS ADAMTSL1 SLC17A5 ETFDH TBC1D24 HNRNPA1 MOGS MYSM1 KRT14 LRP2 B9D1 MKS1 KCNQ1 CREBBP TBCK MECP2 B4GALT7 RBM10 KDM1A MTHFR ALG8 ZNF462 USP9X ZC4H2 TONSL MS4A1 MED13L FANCF TBC1D20 ZNF292 XRCC4 ARVCF KCNK9 PAM16 FGF9 CBL COL11A2 NSMCE3 RREB1 EP300 WASHC5 CDK8 TDP2 NSD2 THOC2 LONP1 CNOT3 WDR73 ARHGAP31 BRWD3 MAFB RBPJ CHRNA7 EOGT GRIN1 CCNQ KNSTRN MYCN ZNHIT3 RNPC3 FLII HYLS1 SLC2A10 FOXF1 PIGV EXOC6B IFITM5 HGSNAT ALG14 GLB1 POLR2A DYNC2I1 ACOX1 KPTN POLA1 SCN9A FKTN ADARB1 SNX14 SLC39A14 RAC1 APC2 TBC1D7 NAGLU ATAD3A DYNC2I2 VANGL2 PIGY EMC10 FLT4 ETFA LBR GATAD2B TMCO1 TCF20 AGT NLGN4X PEX11B ZNF148 IRX5 XRCC2 TBX2 PROP1 DLL3 MYMK PCNT SETD1B PKDCC PCLO RNASEH2B PLEKHM1 ALDH6A1 TOGARAM1 SOX9 ADAMTS3 HK1 DSE SMARCA2 COL5A1 TTC8 YY1 FANCC TANC2 HBA2 MSL3 APC FAM149B1 MOCS1 GK FLCN ARX PLEC SMARCD1 PGAP3 MAD2L2 LEMD2 RB1 LIFR AMACR MCOLN1 PAK1 TTC37 HCFC1 UPF3B PCGF2 BMP1 COX4I2 KRT5 PRMT7 THRA SIX2 NCAPG2 CNOT1 HSPA9 KCNAB2 ASXL3 TG CEP152 IFT140 RETREG1 AGO2 TRPS1 HNRNPA2B1 NBAS FRAS1 KDM6B HSD17B4 CHD3 MESD DPF2 UGP2 HNF1B ASPA ADAMTS2 GATA1 PPM1B LRPPRC EBF3 GATA6 CASZ1 PIK3R1 PRDM16 DUOXA2 INS KIT HBA1 LHX1 PTRH2 ACP5 DHCR7 CENPJ TNFRSF13C NEU1 ZFPM2 FLI1 ALG12 MEIS2 PAFAH1B1 BMPR1A LARS1 RPS19 VPS35L NPAP1 PRKCD TRIP13 FANCG COX4I1 CTU2 NDE1 BRIP1 SMG8 GABRD DLK1 IFT81 PIK3R2 SNORD115-1 FANCM PALB2 WNK1 HP_THICKENED_CALVARIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICKENED_CALVARIA MAN2B1 PTDSS1 FLNA AP1S2 CDH11 COL11A1 SMAD4 NONO POLR3A GNPTAB AGA PDE4D DVL1 HPGD DYM SNX14 GNAS AMER1 TNFRSF11B PTH1R LRP5 ERCC6 ERCC8 RUNX2 TMEM67 PLEKHM1 SFRP4 PHF6 RPS6KA3 GLB1 SGMS2 SLC17A5 HP_PRENATAL_MATERNAL_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRENATAL_MATERNAL_ABNORMALITY PPARG GDF1 TGFBR2 CYP11A1 CFAP221 ARNT2 CLCNKB DNAH1 ODAD2 RSPH4A VANGL2 DNAAF2 FBN1 FOXE3 POR DUOX2 MYH11 SIX3 FGFR1 DNAH9 IRF6 HNF1A NR1H4 DHPS MCIDAS GLI2 HESX1 DNAAF4 TTC12 GJA1 TGFB2 SPTBN1 TGFB3 TP63 DNAAF1 DNAJB13 HADHA NKX2-5 FCGR3B CFAP300 HBA1 HELLPAR SOX2 CCNO FUZ DRC1 CCDC65 FOXJ1 ACTA2 MED13L SPAG1 TGFBR1 NOS3 ABCC8 ZMYND10 TGIF1 DNAI1 KCNJ11 CYP19A1 NEK10 ODAD1 VANGL1 EP300 RSPH3 COL2A1 HEY2 FGF8 STOX1 DNAL1 GAS2L2 SPEF2 MYLK ATP8B1 LMNA SMAD2 FDXR PROKR2 DNAI2 CCDC39 RNF13 ZIC2 F5 PRKG1 OTX2 CDON DNAAF6 PLAGL1 SLC35A2 CYP11B1 ADGRG6 LOX ODAD3 RSPH9 HYMAI CPT1A CYP11B2 MAT2A ABCB11 FOXH1 DNAH11 PTCH1 DNAAF3 MME MTHFR CCDC40 CCDC103 ELN LBR CORIN CFH SHH SMAD3 GAS8 NODAL TDGF1 RSPH1 MFAP5 DNAAF5 SERPINC1 CFI TSHR OFD1 MSX1 SOX3 DLL1 HBA2 NME8 DISP1 NR3C2 NECTIN1 SLC25A20 DNAH5 SLC12A3 ZFP57 ODAD4 RPGR PAH DNAAF11 CFAP298 LRRC56 GAS1 HYDIN HADHB SUFU ABCB4 STK36 CD46 SMAD4 HP_ABNORMALITY_OF_FRONTAL_SINUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FRONTAL_SINUS FLNA DNAI1 ALX3 RUNX2 COL11A1 NOTCH2 ALX1 TRIM37 KCNJ2 ATRX AGA SFRP4 CTSK SIX2 HP_ABSENT_FRONTAL_SINUSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_FRONTAL_SINUSES CTSK NOTCH2 DNAI1 RUNX2 COL11A1 TRIM37 ATRX FLNA HP_LARGE_SELLA_TURCICA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_SELLA_TURCICA GNPTAB ZSWIM6 PCNT GLB1 TSHB ABCC9 HP_PLATYBASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PLATYBASIA TBX1 SEC24C SIK3 NID1 RREB1 ARVCF COMT NOTCH3 HIRA COL1A1 FLNB COL1A2 NOTCH2 JMJD1C GP1BB SH2B1 UFD1 HP_HYPOPLASTIC_FACIAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_FACIAL_BONES DYM BAZ1B SHH GTF2I SIX3 POLR1D KRAS SMOC1 GTF2IRD1 FGFR2 FIG4 POR FGFR1 CLIP2 ABHD11 OFD1 STIL MAP2K1 GLI2 SF3B4 DISP1 ELN CEP120 COL11A1 MTHFR FGF8 GTF2IRD2 RUNX2 NOTCH2 EIF4H ZIC2 CNOT1 LAT2 POLR1C STX1A NCF1 TCOF1 RFC2 ALX1 FKBP6 BRAF CLDN4 DNAJC30 VPS37D MLXIPL POLR1B VPS13B VANGL2 PTCH1 NECTIN1 BUD23 TWIST2 TMEM270 CHD7 METTL27 BCL7B TBL2 PEPD SEMA3E LIMK1 CLDN3 MAP2K2 HP_ABNORMALITY_OF_THE_SKULL_BASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SKULL_BASE LARGE1 TENT5A MRE11 GPC4 CNOT3 B3GALT6 WDR73 BUB3 BUB1B SIX3 POMT2 FLVCR2 TMEM231 POLR3A EBP FKRP FGFR1 TGFB1 VPS51 SLC13A5 DKK1 KRAS RTL1 NPHP3 OFD1 STIL ZIC1 TCTN3 GLI2 NUP88 C2CD3 FAR1 TMEM216 KCNQ1OT1 SH2B1 POLR2A ZIC2 POMK DYNC2I1 ANKH BCOR DAG1 TCTN1 ATP6V0A2 IFT80 B9D1 ZEB2 GDF6 COL1A1 RAC1 ALDH18A1 CSPP1 APC2 DYNC2I2 PSAT1 DPF2 FTO TMEM67 SEMA3E ARID1B DYNC2H1 EP300 ATP6V1B2 SMARCB1 MIR140 PIGN NOTCH3 COG1 MKS1 FGFR2 MAP3K7 ABAT SLC35A2 ZBTB20 TUBB SHH SIK3 AMER1 PPP1CB MYF5 NDUFC2 MEG3 GPC3 GNAS HRAS SH3PXD2B RPGRIP1L POMGNT2 POMT1 FOXC1 CDC42 LBR PLPBP FLNB AFF3 KIAA0586 ASXL1 SMARCC2 PUF60 IGF2 PITX1 MYOD1 NRAS KIF7 DPH1 DISP1 CDH2 SETBP1 SMARCD1 ATP6V1A ALG3 NOTCH2 FGF8 CHD7 ALDH7A1 FLNA TXNDC15 POGZ EVC2 B4GAT1 OPHN1 ARID1A TMEM237 SLC5A6 TMEM107 SOX4 KDELR2 ARID2 BUB1 SLC18A3 USP9X FUZ PLG AP1S2 NID1 WDR35 NSD1 DOK7 ACADVL CEP290 DENND5A SMARCE1 RPGRIP1 COL4A1 SIX2 MAN2B1 WDR81 MBTPS2 CCDC22 PACS2 FKTN CREBBP ABCC9 B9D2 CRPPA CDKN1C DHCR7 SETD2 SMARCA4 ALX4 CPT2 B4GALT1 EVC PIEZO2 WASHC5 HYLS1 PMM2 TBC1D24 MUSK B3GALNT2 PIGU PHGDH TIMMDC1 COL1A2 KCNQ1 TBX15 SMG9 CEP57 CC2D2A DPYSL5 MSX2 ACP5 CEP120 ZSWIM6 PTH1R MAB21L1 KATNB1 POMGNT1 GLI3 ATP6V1E1 RAPSN PMPCA PTDSS1 BRF1 TRIP13 TMEM138 TCTN2 ARMC9 EDEM3 VSX1 RXYLT1 RNF113A DLK1 RFT1 SOX11 SOX3 HP_SCLEROSIS_OF_SKULL_BASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCLEROSIS_OF_SKULL_BASE ANKH FLNA SIK3 AMER1 LBR SETBP1 NOTCH3 ACP5 MEG3 MAP3K7 PTDSS1 DLK1 TGFB1 RTL1 HP_ABNORMAL_PARIETAL_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PARIETAL_BONE_MORPHOLOGY PTCH2 EXT2 RPS19 ALX4 FIG4 PIGL PIGW SUFU MSX2 POLR3A PIGO CREBBP PHF21A PTCH1 PGAP2 FGFR3 PIGY EP300 RUNX2 VAC14 KRAS FGFR2 TWIST1 PTPN11 PIGV PGAP3 HP_PARIETAL_FORAMINA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARIETAL_FORAMINA MSX2 FGFR2 TWIST1 EXT2 RPS19 ALX4 CREBBP PHF21A EP300 HP_ABNORMAL_FORAMEN_MAGNUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FORAMEN_MAGNUM_MORPHOLOGY FGFR3 RAB23 FLNB RSPRY1 CREBBP EP300 RUNX2 ALDH18A1 FLNA GPSM2 HP_LARGE_FORAMEN_MAGNUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_FORAMEN_MAGNUM RAB23 CREBBP EP300 RUNX2 FLNA GPSM2 HP_ABNORMALITY_OF_SKULL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SKULL_OSSIFICATION EXT2 TENT5A VCP KDELR2 FIG4 FGFR2 COL1A2 SLC25A19 PHF21A HHAT ZMPSTE24 ALG9 VAC14 SLC25A24 TAPT1 SGSH RUNX2 NOTCH2 HGSNAT LBR INTU P3H1 MBTPS2 THPO TBCE TRIP11 OSTM1 LMNA COL1A1 HDAC6 FAM111A NAGLU COL2A1 PPIB ANTXR1 ALX4 SEC23A MPL IFT43 ALPL WNT7A CRTAP HP_HIGH_NARROW_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_NARROW_PALATE ATP7A TGFBR2 GPC4 UBE3B DIS3L2 FBN1 COL12A1 INTU DVL1 DPM1 ARL6 PEX1 SLC25A24 DDX59 FOXE3 SPEN MYH11 MPLKIP BCOR SLC6A17 CDK10 ORC4 NSD1 CPT2 ANTXR1 PIGT ACTA1 RUNX2 NIPBL TGFB2 SPTBN1 TGFB3 VPS13B NEB MAP2K1 NONO SMARCA2 PTPN11 WNT5A CCDC28B SIN3A SPRED1 FGFR3 ACTA2 TGFBR1 TARS1 ASXL3 KLHL41 CCDC22 GIPC1 RNF113A ARID2 MAPK1 MCM3AP TWIST2 RECQL4 SCARF2 PIEZO2 HEY2 ATN1 CDC45 MYLK PTDSS1 MUSK SMAD2 HECW2 CHD3 FIG4 PRKG1 CDC6 DVL3 SMG9 LOX GTF2E2 TBCK TPM3 BBS1 PLOD1 AMER1 MAT2A ERCC3 PCLO NOTCH3 VAC14 GPC3 CDT1 ERMARD WNT7A ELN ERCC2 GNE BMPR1A SKI HNRNPK MED12L SMAD3 IFT122 KCNJ6 PEX5 BRAF POR KCNK9 ORC1 MFAP5 FOXP2 COL3A1 APC GMNN TAF1 CNTN1 MAP3K7 COPB1 CRKL BCR NAA10 FZD2 WASHC5 RET TCTN3 ORC6 COL11A1 TBX1 PTEN GTF2H5 ABCC6 MED25 SMS LRP4 SMAD4 HP_DOWNTURNED_CORNERS_OF_MOUTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DOWNTURNED_CORNERS_OF_MOUTH NSD2 EXT2 RNU4ATAC SIM1 HMGA2 HDAC8 CNOT3 PIGA CDH11 CCDC47 KCNH1 PIGL HERC2 POLR3A INTS1 PHF21A HNRNPK MEF2C GPC4 SC5D EIF2S3 TRIP12 PIGV TRMT10A RTL1 ABCC8 HOXB1 SMC3 TELO2 RAB18 NELFA SNRPN NEXMIF WNT5A WDR37 ZSWIM6 UBE2A MBD5 EEF1A2 PIGY SHMT2 NXN BRPF1 NIPBL TCF20 TRAPPC9 ATP6V1B2 KCNJ11 MIR140 FBXO11 ERF CDC42 MAGEL2 CTBP1 PPP1R15B ATP1A2 HDAC4 KCNMA1 ZBTB20 SON COLEC11 NDN FAT4 MAFB WDR4 COLEC10 DVL1 PCLO ROR2 DVL3 FGFRL1 MED13L CPLX1 MED12L KDM4B KAT8 AFF3 OCA2 DCHS1 PIGW KIF15 MSL3 HS6ST2 PIGQ IGF2 ATP1A3 DLK1 GK FOXP1 WAC TASP1 SMARCD1 POGZ PIGG PGAP3 RAD21 ZPR1 DHX37 NTNG2 PGAP2 SRCAP NOVA2 PIGT LETM1 GCK NOTCH2 PACS1 STAC3 PACS2 RLIM AFF4 MASP1 CSNK2B PDX1 BRD4 STAT3 SMC1A KAT6A SNORD116-1 TWIST2 TBC1D24 SETD5 PIGU LMBR1 PIGO EBF3 EHMT1 PIK3R1 INS PWRN1 MEG3 KDM1A HACE1 ZC4H2 MKRN3 LEMD3 PWAR1 SLC1A3 CACNA1A CHRNG NPAP1 PLOD3 FZD2 ALX4 SNORD115-1 HP_ADRENAL_OVERACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENAL_OVERACTIVITY CLCNKB ARMC5 KCNJ2 KCNJ1 PDE8B SLC12A1 CLCN2 CYP11B1 SCNN1G CDKN2B SCNN1A CYP11A1 CDKN1B BSND TP53 CYP11B2 PDE11A NR3C1 SLC26A3 GNAS KCNJ16 CACNA1D CDKN2C PRKAR1A INSR KCNJ5 MEN1 CDKN1A RET SCNN1B PRKACA KCNJ10 CLCNKA NR3C2 SLC12A3 OCRL AIRE HTR1A HP_RECURRENT_BACTERIAL_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_BACTERIAL_INFECTIONS PSENEN TNFRSF13B SH3KBP1 RAG1 C3 CD19 CFH CFAP221 GFI1 UROS STK4 ODAD2 KNSTRN MBL2 GJB6 IKBKG ATP6AP1 LAMB3 CD79A C5 NTRK1 ZAP70 MBTPS2 ISG15 NCF2 MYH6 ANTXR2 RFXANK IFNGR2 CXCR4 PGM3 PIK3R1 UNG DNAJB13 CD8A CFD TBCE RFXAP CCNO ICOS GJB2 DNASE1L3 IL2RG DRC1 SBDS TBX20 CFI RFX5 ODAD1 TNFRSF13C MYD88 RSPH3 CIITA SCNN1A SPEF2 CCDC39 SRP54 CYBB IRAK4 EPG5 DCLRE1C PNP CD79B CARMIL2 ELANE GATA1 MS4A1 DOCK8 ITGB2 WAS DNAH11 SLC37A4 IKZF3 STAT3 LAMC2 SCNN1B ADAM17 GAS8 DNAJC21 GATA4 BTK AP3B1 CR2 RSPH1 SLC7A7 CITED2 EFL1 UROD CTSC LAMA3 C6 CFTR NME8 ACTC1 MALT1 UBE2A TCIRG1 DNAH5 ODAD4 RPGR CD40LG ADA DNAAF11 CFAP298 HYDIN CEBPE IL10RA HBB LCP2 DNAH1 NCF1 RSPH4A GATA2 SMARCD2 DNAAF2 RAB27A FCN3 IKZF1 DNAH9 JAGN1 RAG2 MCIDAS SCNN1G NHEJ1 IL12RB1 CYBA DNAAF4 IFNGR1 TTC12 MAN2B1 SLC35A1 DNAAF1 C7 CFAP300 EGFR SAMD9 LYST CCDC65 FOXJ1 FERMT3 GATA6 SPAG1 NKX2-5 PSEN1 ZMYND10 TYK2 DNAI1 CD81 NEK10 TLL1 PIK3CD DNAL1 AICDA STAT1 CFB GAS2L2 IGHM DNAI2 IL17RA DNAAF6 ODAD3 RSPH9 HAX1 DNAAF3 CCDC40 CCDC103 CD40 DNAAF5 BLNK C8B OFD1 IGLL1 G6PC3 LRRC56 STIM1 IL2RA STK36 HP_DECREASED_CIRCULATING_IGA_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_IGA_LEVEL PIK3CD TNFRSF13B MTOR HLA-DQB1 CD19 KNSTRN TCN2 DNMT3B CTLA4 CD247 IL2RG ATP6AP1 LRBA TNFRSF11A RAG2 PIGT IVNS1ABP MOGS ITCH ICOS CD3E DCLRE1C UNG CD40 PMM2 HLA-DQA1 CR2 NFKB2 IRF2BP2 BLM CARD11 RAG1 BACH2 CAVIN1 CD3D CSNK2A1 SYK TNFRSF13C CASP8 CD40LG ADA JAK3 ATM PLCG2 RNF168 AICDA IL2RA HP_IMMUNODEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMMUNODEFICIENCY TNFRSF13B ATRX CD19 BUB1B CCDC47 STK4 STX1A PTEN KNSTRN RAG2 POLE ACD DNMT3B CTLA4 CD3D RAG1 CD3E TERT IKBKG HELLS CHD1 ICOS AGL CD81 CARD9 CD3G RTEL1 TERC MBTPS2 NSD2 CUBN IVNS1ABP ISG15 TGFB1 NCF2 PTPRC IL2RG ANTXR2 IFNGR2 DCLRE1C NHP2 NFE2L2 PGM3 PIK3R1 UNG ALG1 MAN2B1 CD247 RNF168 SLC46A1 IRF8 IRF2BP2 SKIV2L LAT SBDS MGAT2 LAMTOR2 TNFRSF13C SLC6A14 MYD88 SHANK3 CFTR EP300 KLLN RBCK1 CUL4B PIK3CA FOXN1 SDHC IL7R CDC42 CDCA7 TBK1 MIF ATM CYBB CTPS1 IL2RB GCLC IRAK4 EPG5 DOCK2 PARN SIK3 SLC26A9 DKC1 MS4A1 NOP10 SPATA5 ZNF699 LRRC8A CHD7 UNC119 LCK AK2 FGFRL1 CEACAM3 ADA2 CPLX1 CORO1A CD28 DNAJC21 TNFSF12 TRAF3 TINF2 BTK TNFRSF1B CR2 NFKB2 TTC37 EFL1 USP8 STAT1 NPM1 KCNN4 CD79A CRKL BCR MALT1 USF3 MTHFD1 CD40LG ADA DCTN4 NFKB1 EDNRA XIAP SEC24C CEACAM6 HFE CTBP1 LCP2 ORAI1 COMT NCF1 SERPINA1 IKBKB LMNB2 GATA2 SH2D1A JMJD1C MAGT1 IRF7 IGLL1 AP3D1 WAS PIK3CD ACTB IKZF1 GSTM3 ZBTB24 JAK3 MCM10 TLR3 TFRC CD79B TICAM1 LETM1 NHEJ1 IL12RB1 CYBA TTC7A IFNGR1 CREBBP LIG4 SP110 BCL10 SMARCAL1 UNC93B1 SRP54 TYK2 HMOX1 IL12B SDHD IL21R MAPK1 HIRA AICDA FRAS1 TBX1 HBB SDHB BLNK LYST PRPS1 BCL11B WIPF1 CLCA4 UFD1 SEC23B CARD11 XRCC4 HYOU1 LRBA IGHM TNFRSF4 WRAP53 ACP5 USB1 GP1BB MEIS2 SLC11A1 EXTL3 TBCE SLC9A3 CD40 ARVCF AMN TCF3 CTC1 PRKCD FCGR3A PRKDC RREB1 CDH23 MMUT RAB27A RMRP MYC RAC2 AKT1 PNP STIM1 IL2RA HP_RECURRENT_ABSCESS_FORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_ABSCESS_FORMATION PSENEN CD3E PSEN1 CARMIL2 TTC7A CD3D LCP2 BTK AP3B1 SYK UBE2A SP110 FCN3 CD247 CTSC HP_RECURRENT_ASPERGILLUS_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_ASPERGILLUS_INFECTIONS CYBB STAT1 NCF2 CYBA NCF1 HP_SYSTEMIC_LUPUS_ERYTHEMATOSUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYSTEMIC_LUPUS_ERYTHEMATOSUS PRKCD STAT4 FCGR2B SERPING1 C1QB SEMA6B C3 DDX41 ACP5 SOCS1 TPP2 C1QA DNASE1 C1S RASGRP1 CTLA4 FASLG IRAK1 TREX1 C8A C2 MASP2 C1QC C4A PTPN22 SMPD1 FAS CASP10 CFTR SPP1 DNASE1L3 PNP PEPD FCGR2A HP_RECURRENT_STAPHYLOCOCCUS_AUREUS_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_STAPHYLOCOCCUS_AUREUS_INFECTIONS CIITA PGM3 NTRK1 RFXAP NCF1 CYBB IL17RA STAT3 NCF2 CYBA FCN3 RFXANK RFX5 HP_CHRONIC_MUCOCUTANEOUS_CANDIDIASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_MUCOCUTANEOUS_CANDIDIASIS CD3E PGM3 DCLRE1C AP3B1 RFXAP AIRE ZNF341 IL17RA KNSTRN SREBF1 IL2RG EPG5 CD247 RFX5 CIITA STAT1 CARMIL2 IKBKB CD3D TFRC CARD9 ZAP70 PIK3CD WDR1 STAT3 RFXANK IL17F SP110 CLEC7A JAK3 IL2RA MVK HP_FOLLICULAR_HYPERPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOLLICULAR_HYPERPLASIA ICOS TNFRSF13B CASP10 NRAS CD19 STING1 FASLG TET2 SYK TNFRSF13C CR2 PRKCD FAS KRAS HP_CHRONIC_NONINFECTIOUS_LYMPHADENOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_NONINFECTIOUS_LYMPHADENOPATHY PRKCD CASP10 FAS MINPP1 FASLG DAXX HABP2 ABCA1 RASGRP1 FOXE1 ATRX SDHD HP_DECREASED_LYMPHOCYTE_APOPTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_LYMPHOCYTE_APOPTOSIS CASP10 CASP8 NRAS FAS KRAS FASLG HP_ABNORMALITY_OF_THE_LYMPH_NODES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_LYMPH_NODES TNFRSF13B RNU4ATAC NRAS RAG1 FCHO1 MYD88 LCAT UBAC2 IFNGR1 STAT2 PTPN22 BCL6 CTLA4 KRAS MVK EIF2AK4 KIT HLA-DRB1 TGFBR2 ICOS MEFV CD81 PRF1 CARD9 CCR1 ZAP70 KLRC4 FOXP3 ATM CBL ISG15 NCF2 PTPRC FAS C4A FIP1L1 OTULIN DCLRE1C STAT4 TPP2 UNG P4HA2 SRSF2 NLRP12 NLRP3 STXBP2 TET2 EWSR1 ADA APOA1 TRIM28 NABP1 IRF8 IL7R DNASE1L3 IL2RG TNFSF11 LAT RARA CD19 CD70 SNX10 SYK BCOR TNFRSF13C TLR4 MCM4 ASXL1 CLCN7 CYBB RBCK1 ABCA1 TSC1 STING1 PSTPIP1 CYBC1 STX11 IL2RB ANKRD55 ATRX PNP MPL TNFRSF1B WT1 TBL1XR1 DLEC1 CHD7 TNFRSF1A PALLD WDR1 ADAMTS3 ARPC1B IL12A-AS1 RAG2 BRCA1 ADA2 CD28 TNFSF12 FASLG TERT CR2 NCF4 PSMB4 GINS1 ITK ERAP1 POU6F2 CASP8 NUMA1 CD40LG PRKCD PML IRF2BP2 SP110 NFKB1 CD247 RNF168 CASP10 NFKB2 CDKN2A BRCA2 NCF1 RASGRP1 SOCS1 IL23R RIPK1 SH2D1A MAGT1 FAT4 PIK3CD CALR BIRC3 UNC13D JAK3 DAXX ELANE HLA-DPB1 SLC29A3 IL2RA TRAC RABL3 CYBA RUNX1 TRIP13 SMPD1 ZBTB16 BTNL2 IL12RB1 HLA-B LIG4 LYST FOXE1 JAK2 IRAK1 NOD2 FERMT3 PSMB9 CD27 MINPP1 GATA2 NPM1 NCKAP1L MIF RNF6 PSMB8 SPP1 LACC1 AICDA PTPN2 TSC2 MALT1 IL10 CCBE1 CCND1 BAP1 IL12A RAC2 TP53 BTK LRBA SMAD4 ACP5 IL6 STAT5B BCL2 REST YARS1 H19 MS4A1 SDHD PRKAR1A FOXP1 CD40 TCIRG1 XRCC4 MYC DIS3L2 SH3BP2 POMP APOE ASAH1 PSMG2 RAB27A HABP2 RMRP WWOX GPC3 XIAP BCL10 STAT3 CXCR4 PALB2 STIM1 HP_HYPOPLASTIC_FRONTAL_SINUSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_FRONTAL_SINUSES AGA COL11A1 SFRP4 ALX3 FLNA RUNX2 TRIM37 HP_RECURRENT_KLEBSIELLA_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_KLEBSIELLA_INFECTIONS CYBB MBL2 NCF2 CYBA NCF1 IL12RB1 HP_RECURRENT_ENTEROVIRAL_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_ENTEROVIRAL_INFECTIONS IGHM BTK SP110 RAG2 RAG1 HP_BILATERAL_CLEFT_LIP_AND_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_CLEFT_LIP_AND_PALATE PTCH1 NECTIN1 GLI2 CTNND1 CDH1 CHUK SPOP YAP1 HP_ORAL_LEUKOPLAKIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORAL_LEUKOPLAKIA KRT6A NHP2 DKC1 TINF2 NOP10 CTC1 KRT6B GJB2 ACD TERC PARN NPM1 GJB6 TERT RTEL1 FERMT1 KRT4 KRT16 WRAP53 MEFV KRT17 USB1 HP_RICKETS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RICKETS ATP7A CYP2R1 ATP8B1 FARSB HNF4A ABCC6 HLA-DQB1 SLC34A1 ENPP1 NRAS SLC2A2 EHHADH FAH GATM PHGDH CLCN5 CYP27B1 NDUFAF6 NAB2 STAT6 ATP6V0A4 ADAMTS2 TJP2 RNU4ATAC PHEX CTNS VDR HLA-DQA1 FGF23 BAAT DMP1 SLC34A3 ALPL SLC4A1 HSD3B7 OCRL ADAMTSL2 PSAT1 HRAS KRAS HP_OSTEOMALACIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOMALACIA ATP7A CYP2R1 ABCC6 ENPP1 CLCN5 FGF23 DMP1 ATP7B GATM PHGDH ALPL CYP27B1 NDUFAF6 EHHADH SLC2A2 OCRL ADAMTSL2 PSAT1 SLC4A1 SYK VDR SLC34A3 GNAS ADAMTS2 AP2S1 RNU4ATAC PHEX ANTXR2 SLC34A1 HP_KYPHOSCOLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KYPHOSCOLIOSIS NF1 B3GALT6 NRAS CDH11 CCN6 TRAPPC2 SUFU COL12A1 PNKP SLC18A3 TPM3 RTL1 RBM28 MVK COL2A1 MPZ TRMT10A NFIX HGSNAT POMT1 RAB3GAP1 MYL2 AIMP2 EXTL3 MECP2 TELO2 RAB18 ATP6V0A2 MAP2K1 PTPN11 SNX14 AKT1 PMP22 GORAB MYO9A MGAT2 SPART B4GALT7 ARID2 CHST3 CBS CRPPA NDRG1 FKRP TUBB3 SPG11 PRX TRPV4 HACD1 ACTB PPP1R12A SLC1A2 ACTA1 PPP1R15B COG1 TTI2 NSDHL SMS SON SLC10A7 COL1A2 WDR45B TPM2 RSPRY1 SBF2 MEG3 COL13A1 SOX9 PEX7 FARS2 SH3PXD2B MAPT DSE NONO DLL3 MEGF8 ERCC2 POP1 ATRX CLIC2 BRAF FKBP10 CHST14 SLC26A2 SYT2 SRCAP CLP1 SETBP1 AEBP1 FOXG1 MMP2 FKBP14 SLC25A1 HRAS NOTCH2 GDAP1 EGR2 PTCH1 NEMF TGFB3 PAPSS2 ITGA7 RAB23 LAMA2 DVL1 RECQL4 MRPS34 ALDH18A1 BCOR TCTN3 DSTYK SNAP25 CHAT MYH3 KIF22 DNA2 BMP1 FUT8 FKTN CTDP1 NUP107 ATP6V1E1 AGRN ATAD1 NEPRO TOR1A HERC1 FBN1 DNMT3A MLXIPL GZF1 RYR1 PLOD1 ATG7 SLC39A13 NDUFS3 KRAS FLNA UBA1 JPH1 PTCH2 PMM2 SURF1 MESD POLR3A PIEZO2 GNPTAB SLC16A2 FBN2 ELN IKBKG H1-4 VAMP1 ZMPSTE24 MESP2 TMEM165 ACP5 AIMP1 LMNA SELENON EXOC6B TONSL HSPG2 STAC3 ERCC1 SLC52A2 KY MTTP CRLF1 RPS6KA3 ERCC6 MAP3K20 NAA10 SLC5A7 LRP5 DLK1 KCNA1 TUBB4A HMGB3 LHX3 HP_SPARSE_BONE_TRABECULAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPARSE_BONE_TRABECULAE CYP2R1 SLC34A3 CLCN5 CYP27B1 VDR HP_THIN_BONY_CORTEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIN_BONY_CORTEX PTH1R CYP2R1 FARSB FBN1 CLCN5 ADAMTS10 TENT5A VDR SLC34A3 CYP27B1 TNFRSF11A AKT1 HP_OSTEOMYELITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOMYELITIS CLTCL1 TCIRG1 DNMT1 STAT3 BLNK NTRK1 NCF1 CYBB FLVCR1 SLCO2A1 IFNGR1 C2orf69 ATL1 SCNN1G IGLL1 RETREG1 CLCN7 IGHM IL1RN ITGB2 HBB SCNN1A CD79B TNFSF11 LRRC8A FOXP3 ANO5 MTAP ATL3 ATP7A NCF2 CYBA EN1 SPTBN1 LPIN2 RAB7A HPGD CTSK DNAJC21 BTK NGF IL12RB1 TCF3 SPTLC1 EFL1 SPTLC2 PIK3R1 SCNN1B CD79A SBDS CCT5 SRP54 MPV17 SYK PLEKHM1 PGM3 HP_PATHOLOGIC_FRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATHOLOGIC_FRACTURE HNRNPA1 RECQL4 TCIRG1 LIFR TYROBP GNPTAB GBA ATL1 TREM2 TP53 CCND1 AGXT SMPD1 SLC4A1 UROS CBL MTAP PTH1R ATL3 CHEK2 B2M IER3IP1 ATP7B GNAS RUNX1 SRSF2 RB1 AGA TET2 VCP SLC7A7 ALPL B3GALT6 FBLN5 SPTLC2 OCRL GK SC5D PLOD3 NOTCH2 SPTLC1 SCARB2 SLC34A3 EFEMP2 HNRNPA2B1 LRP5 CTC1 TNFRSF11A ASXL1 HP_RECURRENT_FRACTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_FRACTURES TENT5A FGFR1 VCP KDELR2 B3GALT6 NRAS B3GAT3 LEMD3 HS6ST1 SEMA3A FGFR2 LRP5 POR CLCN5 TERT GNAS GORAB ANOS1 TNFSF11 IL17RD MYH3 CA2 SLC29A3 TERC TCIRG1 ATP7A RUNX2 NOTCH2 DCC IFITM5 WNT1 SGMS2 PROKR2 ANTXR2 SOX9 PTEN TNFRSF11A P4HB NHP2 MBTPS2 FLRT3 TNFRSF11B IDH1 VDR CHST3 PYCR1 SQSTM1 COL1A1 SLC34A3 FOXE1 TMEM38B DKK1 FGF8 CYP2R1 CHD7 SNX10 MINPP1 PLEKHM1 SOX10 COL1A2 CLCN7 CRTAP KRAS LIFR MOGS FZD4 DUSP6 TACR3 CLTCL1 CCDC141 STAT3 NDNF TBCD FGF17 CASR SMS PARN TRIP11 CBS WDR11 RTEL1 DKC1 NOP10 B4GALT7 WRAP53 MTAP USB1 TAPT1 CTNND2 YY1AP1 CYP27B1 P3H1 SLC7A7 WNT3A CTSK TINF2 PLOD2 TRPV6 ELP1 UNC45A CTC1 ALPL ZNF687 FKBP10 USP8 FEZF1 NPM1 SEC24D PROK2 PRDM5 HESX1 CDH23 IDH2 HRAS PPIB HABP2 GLE1 OCRL SEMA5A SPRY4 ANO5 HP_OSTEOARTHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOARTHRITIS TENT5A TRPS1 KDELR2 COL1A1 CCN6 TRAPPC2 COL5A1 ATP7B COL2A1 SLC26A2 GBA UFSP2 ANKH DDRGK1 ANKRD55 PTPN2 COL9A2 GPR101 COMP KIF22 IL2RB IL2RA AEBP1 ACAN MATN3 MBTPS2 MMP13 PTPN22 SMAD3 FBN1 AIP TRPV4 COL11A2 HGD CANT1 HPGD F9 MEFV CLCN7 TNFRSF11B ASPN COL9A3 F8 FGFR3 COL9A1 FRZB ZMPSTE24 COL11A1 PHEX LMNA MIR140 STAT4 CD247 SLC40A1 COL3A1 ZNF687 GDF5 GNAS COL5A2 SCARB2 GHR HLA-B TGFB3 HP_GENERALIZED_JOINT_LAXITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_JOINT_LAXITY GNRH1 ATP6V1E1 C1R CHD7 COL1A1 FGF17 LONP1 COMP MSTO1 AP4B1 ATP6V0A2 AP4M1 SATB2 PUF60 AP4E1 TACR3 COL2A1 HS6ST1 CHST14 FGF8 KISS1R WDR11 COL5A1 FGFR1 KISS1 PLOD1 ATP6V1A COL5A2 MCTP2 GNRHR SERPINH1 KIF22 TAC3 AP4S1 MED12 DUSP6 NSMF TONSL FGFR3 PROKR2 DSE PROK2 SPRY4 HP_MULTIPLE_EXOSTOSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_EXOSTOSES SHOX PTPN11 ALX4 TRPS1 MSX2 EXT1 HP_ABNORMAL_CARTILAGE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CARTILAGE_MORPHOLOGY ABCC6 ENPP1 MGP POLR1D GNAI3 TRAPPC2 PTPN11 COL2A1 ZBTB20 IDH1 ANKH EXT1 PEX5 DDR2 IDH2 PUF60 ZNF462 FGFR3 PLCB4 EDN1 POLR1C TCOF1 TGIF1 KRAS F8 SIX3 FLNB SLC26A2 POLR1B HGD TWIST1 PTCH1 TCTN3 UBA1 FGFR2 STEEP1 TNFRSF11B PTH1R PEX2 HS2ST1 FGFR1 EXT2 HP_TRACHEAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRACHEAL_STENOSIS ADAMTSL2 FLNB GRIP1 MGP SMAD4 ZEB2 SLC26A4 EBP FOXI1 HYLS1 FREM2 RMRP SLC26A2 DDRGK1 PCNT IDUA HOXD13 WNT3 KCNJ10 RSPO2 DHCR7 MAP3K7 AFF4 LTBP3 ARSL KIF7 EXTL3 FRAS1 HP_ABNORMAL_TRACHEAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TRACHEAL_MORPHOLOGY USP9X ADAMTSL2 SPECC1L SOX2 GTF2I B3GALT6 MGP POLR1D SMAD4 ARNT2 AHDC1 GMNN RAB3GAP2 GTF2IRD1 SEMA3E MYCN RPL5 ZIC3 DCHS1 BRCA2 CLIP2 FOXI1 FANCB BMPER HYLS1 FANCE TERT RMRP DDRGK1 ABHD11 SCUBE3 HOXD13 EHMT1 KCNJ10 RSPO2 ELN KIF22 TERC FOXF1 WBP11 EMC1 ARSL HESX1 IDS FANCI EIF4H FGFR2 SOX9 LAT2 COL2A1 HRAS NHP2 STX1A TCOF1 SLC12A2 SLX4 KANSL1 PAX3 FANCA ZEB2 AFF4 FANCD2 SNRPB FLNB FREM2 RAC1 POLR1B FANCL FGFR1 IDUA BUD23 WNT3 NCF2 ITGA8 METTL27 TBL2 RFWD3 LIMK1 CLDN3 CYBA ERCC4 CYBB KIF7 FRAS1 TRRAP CHD7 ERF BAZ1B WDR26 GRIP1 PROKR2 XRCC2 OTX2 HDAC4 SLC26A4 FBN2 FGF20 NCF1 PARN FAT4 RTEL1 AMER1 NOTCH3 DKC1 DDR2 NOP10 ORC4 RET ZNF699 WRAP53 DHCR7 LTBP4 RALGAPA1 WNT7A USB1 GTF2IRD2 PRRX1 HK1 EXTL3 LBR FANCF POLR1C CYBC1 FANCC TINF2 RFC2 FKBP6 NCF4 CTC1 CLDN4 DNAJC30 UBE2T VPS37D PDGFRB EBP FANCG NPM1 MLXIPL SLC26A2 TRIM2 RAD51 SOX3 PCNT BRCA1 TMEM270 BCL7B ORC6 BRIP1 GREB1L HAAO MAP3K7 GLMN LTBP3 FANCM PALB2 TONSL KMT2C MAD2L2 RAD51C HP_TRACHEOMALACIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRACHEOMALACIA ERF USP9X WDR26 B3GALT6 AHDC1 GMNN HDAC4 RAB3GAP2 RPL5 DCHS1 BMPER FAT4 AMER1 SCUBE3 COL2A1 ORC4 EHMT1 ZNF699 KIF22 LTBP4 RALGAPA1 SOX9 EMC1 PRRX1 HK1 IDS HRAS FGFR2 FLNB KANSL1 PAX3 AFF4 SLC26A2 RAC1 TRIM2 SNRPB ORC6 HAAO TONSL KMT2C TRRAP HP_BRONCHOMALACIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRONCHOMALACIA ERF HRAS SCUBE3 MYRF MYH11 ORC4 EHMT1 KRT14 ZNF699 GMNN ORC6 LTBP4 SOX9 FGFR1 KRT5 FLNB IDS SLC26A2 RAC1 POR FGFR2 HP_UPPER_AIRWAY_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_AIRWAY_OBSTRUCTION SOX9 IDS SH3BP2 AHDC1 POR ZSWIM6 BTNL2 ZMPSTE24 F12 FGFR2 KCNJ6 COL11A1 LMNA FGFR3 GNE HLA-DRB1 DDRGK1 HP_RECURRENT_LOWER_RESPIRATORY_TRACT_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_LOWER_RESPIRATORY_TRACT_INFECTIONS TNFRSF13B COL13A1 RNU4ATAC LMNB1 PURA COLQ SATB1 FCHO1 NCF1 RASGRP1 SLC35C1 COL5A1 STX3 SREBF1 SMARCD2 NFKB2 FCN3 SCNN1G CTLA4 ALB CD247 JAK3 TNFRSF11A RAG2 PKHD1 ZAP70 NCF2 CYBA LEP EGFR TPP2 NBN DCLRE1C UNG COL6A2 GLI3 ADA ICOS IL7R USB1 FBLN5 ODAD1 FMO3 SCNN1B RAC1 RAG1 LAT CD27 CCDC40 ODAD2 COL11A2 CD19 MGAT2 RFX5 LRRC56 FOXJ1 IL21R TNFRSF13C KPTN EFEMP2 PLOD1 STAT3 DNAH11 RFXANK CIITA SCNN1A AASS AICDA COL6A1 PIK3CD NKX2-1 IGHM MYSM1 ALMS1 GNPTAB CYBC1 CYBB CCDC39 TBCD RAC2 PYROXD1 DZIP1L IL2RG VPS33A PNP CD79B DRC1 LAMA2 P4HTM MASP2 CARMIL2 IGBP1 LRBA DDR2 NDUFC2 CTCF SIAH1 FCGR2A UNC119 USP9X WDR19 WDR1 WAS KCNJ6 GAS8 ALG12 CFTR PEPD TONSL COL6A3 SMARCA2 EXTL3 SFTPC CD3E BTK AP3B1 TRIM37 TGFB1 CR2 BLNK STK36 PRKDC SETBP1 IGLL1 LAMB2 CD3D CFAP410 MTHFD1 TK2 POLA1 ORC6 CD40LG PRKCD MED25 CXCR4 PGM3 PKP1 RNF168 RFXAP NFKB1 HP_TRACHEOBRONCHOMALACIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRACHEOBRONCHOMALACIA GMNN SCUBE3 SOX9 EHMT1 IDS SLC26A2 RAC1 HP_TACHYPNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TACHYPNEA ABCA3 GDF1 CC2D2A OXCT1 KIAA0586 AHI1 BTD CA5A CEP290 TMEM138 ARMC9 HLCS TMEM237 GABBR2 TCTN2 FBP1 STXBP1 RYR1 TCTN3 COA6 ACADVL HYLS1 NTNG1 ARSL CSF2RB TMEM216 LRPPRC MED13L SFTPB UQCRC2 ARL13B CPLANE1 CEP104 RHCE KATNIP INPP5E CEP41 PIBF1 RHD COPA ZNF423 CBY1 ARL3 SMC1A TCTN1 ABCD4 HMGCL KIF7 FARSB NHLRC2 RHAG STING1 TMEM67 NKX2-6 SLC25A15 B9D1 SLC34A2 CDKL5 OFD1 IGHMBP2 NEK1 PDE6D CSF2RA CACNA1S CSPP1 PCCB MECP2 SFTPC SUFU CASR PLXND1 CEP120 PCCA PAM16 TMEM231 FAM149B1 KIAA0753 MKS1 NKX2-1 ACTA2 MT-CYB RPGRIP1L ACAT1 TLL1 HP_NEONATAL_BREATHING_DYSREGULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_BREATHING_DYSREGULATION RPGRIP1L TMEM216 INPP5E AHI1 CEP290 HP_HYPOVENTILATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOVENTILATION TPM2 MOGS PURA MYH7 COLQ PHOX2B CFL2 SELENON DCTN1 HERC2 SLC52A3 MYPN MYO1H DZIP1L NDN NEB LAMA2 P4HTM NDUFAF2 PWRN1 NDUFS2 ASCL1 PKHD1 HOXA1 ACTA1 KLHL41 MKRN3 NDUFAF3 COL6A3 PWAR1 HNRNPK SLC5A7 RET COL6A2 FKRP COL12A1 NPAP1 NDUFB8 SCO2 SURF1 TTN LAMB2 SNRPN MECP2 TPM3 DMD MAGEL2 SNORD116-1 SNORD115-1 LMOD3 NDUFS6 COL6A1 HP_REDUCED_VITAL_CAPACITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_VITAL_CAPACITY TPM2 NEB CHRNB1 AK9 LRP4 SELENON MAP3K20 MYH7 CHRNE SCN4A ACTA1 PYROXD1 MYPN CHRNA1 TTN RAPSN KBTBD13 CRPPA MYOT CHRND AGRN KLHL41 TPM3 COL13A1 VCP DOK7 ACTN2 MUSK HP_ABNORMAL_PATTERN_OF_RESPIRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PATTERN_OF_RESPIRATION BUB1B CCDC47 PPARGC1A CIZ1 DCTN1 SELENON CEP290 HERC2 TAF15 SLC18A3 GAA TRIP11 VPS51 BMPER SLC6A5 PEX13 GNAS LAMB3 TCTN3 DLL1 TDGF1 TTN ARSL MYO9A MYH6 CEP41 FXR1 AIMP2 SCN8A STX16 SIX3 MT-ND1 MATR3 TBK1 GABRG2 POLG2 TECPR2 SCN2A MT-ND4 LIAS FOXH1 RHCE INPP5E BCOR ANXA11 FGF8 DOK7 PHOX2B MYLK TCTN1 PIBF1 MT-ND2 NGLY1 ENG ACADS USP7 CHRNE GLI2 MSX1 FBP1 CYB5R3 MMAB SUCLG1 NDN PEX5 ARCN1 DMPK NDUFA8 GPHN SFTPB HOXA1 CDT1 RANBP2 UQCRFS1 TACO1 CABP4 LAMC2 SCNN1B LMNA UBQLN2 TMEM237 TBX20 PCCA TGIF1 RARS2 TSEN2 HNRNPK GATA6 DPH1 RRM2B SETBP1 SNRPN MYBPC3 NKX2-5 HLA-DRB1 SLC25A1 STN1 PRRX1 RPGRIP1L PTCH1 PML DISP1 PIGA SMAD4 MYL3 NEFH RERE UBE3B PPP1R21 SHH BUB1 AHI1 MT-ND5 HLCS IL1RN SH3BP2 ORC4 NPPA TRMT5 CHAT HLA-DPB1 PET100 CHRND MAGEL2 NODAL HEPHL1 TREM2 NDUFA12 UNC13A GLUL HRAS NDUFS2 MPC1 PCK1 NDUFS3 SRPX2 AFF4 HNRNPA1 CASR FGFR3 LDLRAP1 CHRNA1 MED13L MT-TK PIGT TPM2 TERT RUNX2 KAT6A NDUFA13 ARL13B NEB EIF2AK4 CISD2 DHX16 SNORD116-1 SLC39A8 ATN1 RPS26 COL6A1 NECTIN1 PMM2 CC2D2A PON2 MYH7 SFTPA2 PSAP TBX4 MED27 BAP1 CCN2 DZIP1L TCF4 LAMA2 PWRN1 ETFB CASK ERBB4 MECP2 MKRN3 D2HGDH PWAR1 TNNC1 ABCA3 PRKAR1A SOD1 CPT2 SUFU AHDC1 TOE1 FGF13 TRMU OPA1 COL2A1 CAV1 LAMB2 SCN4A CEP57 NDUFV1 ECHS1 LTBP3 TUBB4A CRYAB NDUFS4 SIM1 SLC25A3 ATRX BUB3 OXCT1 BMP2 TRPV4 ARMC9 STAT2 NAGS MT-TE COA8 GABBR2 RYR1 KCNT1 SBDS DNAJB6 STAT5B GNAI3 IDS CSF2RB NUP214 ZIC3 STAT4 TARDBP VAPB TMEM216 LRPPRC TNFSF11 CPLANE1 FGFR1 RARA MGAT2 CEP104 SCO1 CEP120 FLNC ACY1 COQ2 CLCN7 LMOD3 BRAF SLC6A9 RELN TSEN54 CHRNA2 GLA FARSB TSC1 STING1 ZC4H2 CDC6 SLC34A2 MARS1 GABRB3 LOX IGHMBP2 NADK2 P4HTM NDUFAF2 NEK1 MT-TW SLC2A1 PDE6D DPAGT1 PLEC EDA COL6A3 MUSK GNE OCA2 LRP4 KCNQ2 FUS IKZF1 PNKD CITED2 ATP1A3 CYB5A SCN1B NKX2-1 ACTC1 ORC6 NUMA1 KRT17 PDHA1 NEMF PLCB4 KIF20A TGFBR2 ENPP1 KIF5A CLCNKB MMAA STAG2 HLA-B HCCS ITGA3 AP3D1 DPP9 WAS CSPP1 EFTUD2 SCN5A MMACHC SNAP25 SCNN1G NTNG1 WAC SYT1 KLHL7 ADGRG1 MT-TN NDUFAF6 RET DST CREBBP BTNL2 HSPD1 NDUFA10 TET2 SCO2 NDUFV2 ZIC2 TGFBR1 ACADSB CCR6 DEPDC5 EXOC2 CHRNB1 KATNIP FAM20C SPP1 EPHB4 MAPT MGME1 TMEM107 SMAD2 TMEM67 TNNI3 SLC25A15 OTX2 KIAA0586 PRKG1 WIPF1 VPS33A NALCN PI4KA LDLR MAT2A ACTA1 GLT8D1 PCCB MT-ND6 SKI FGFR2 TERC SMAD3 TRAK1 KCNQ3 BRAT1 RNF125 PLXND1 CTSD TMEM231 PRPH NDUFB8 GABRA1 SURF1 SMPD1 TWIST1 ALDH7A1 NPHP1 MMUT HBB GRIN2A DSC2 CSF2RA SLC25A20 MYH11 STAT3 ALPL KRT6A MCCC1 SEPSECS NDUFS1 CNTNAP2 B3GALT6 RTEL1 CFL2 FBN1 KRT6B GNA11 DSP MUC5B TRPV6 CHMP2B GPR101 DDB1 JPH2 PKHD1 IDUA IRF6 COL13A1 TP63 GLRA1 FIP1L1 TGFB2 NDUFA2 VCP ABCG5 AIP DNAAF3 GATA4 SDCCAG8 ISCU MEGF10 COPA HEY2 EP300 ZNF423 CBY1 ARL3 ERF LARP7 ANG ATP1A2 SATB2 GBA CDKL5 HSPG2 SSR4 ERGIC1 NFIX COL1A2 ACADVL TSC2 FOXF1 CACNA1H ALMS1 UNC80 CACNA1S ADNP FARS2 POMT1 DPM2 LIPT1 ADCY6 SLC19A3 TNNT2 RAI1 DPM1 ACADM ASXL1 COL12A1 COL4A5 COL3A1 GMNN GSN BMPR2 SLC35A1 SYT2 NRXN1 PRRT2 NDUFS8 ZFPM2 TPM3 DISC1 MRPL3 TLL1 IFT52 CRELD1 PURA COLQ CA5A TMEM138 DNA2 TFG LRRC32 SQSTM1 MYO1H PRPS1 ORC1 TCTN2 DBH CRH EOMES KLHL41 IRF5 CDON COX15 ZBTB16 CTNNB1 IRAK1 NOD2 ACTA2 PYGM RAPSN GTPBP3 RHD DNAJC21 NDUFS7 COQ7 PFN1 ETFDH TBC1D24 MOGS ABCD4 KIF7 CNTNAP1 ABCC6 TSPYL1 NKX2-6 B9D1 MKS1 PLAA PRNP ASCL1 SIK1 PON3 PUF60 RBM10 OPTN USP9X VCL KCNJ6 SDHA NR2F2 SLC1A3 SFTPC JRK FOXRED1 ARX TBR1 CTSK TSEN15 GYG1 PAM16 KIAA0753 COX7B RPS6KA3 NDUFAF5 AGRN COL6A2 SLC5A7 TSEN34 KCNA1 BTD CHRNB2 GDF1 CHRNA4 RPS28 DKK1 FOXE3 CFAP410 STXBP1 COA6 C2CD3 APOB HYLS1 SLC2A10 FOXP3 MTHFR SH2B3 EPOR PCSK9 ACVRL1 MT-ND3 EDN1 TGFB3 PRKCSH FKRP NACC1 NABP1 NDUFB11 DNASE1L3 UQCRC2 GAS1 ETFA SNX10 DMD MLX MTFMT SCNN1A NDUFS6 ATP6V1B2 LIFR NDUFA11 NHLRC2 RHAG RNF13 SFTPA1 PON1 GALC MYPN AMER1 TBL1XR1 GLE1 ZMPSTE24 SOX9 ELN COL4A6 KAT6B NDUFAF3 SPOP NONO BCHE MFAP5 FAM149B1 STT3B LAMA3 CFTR PTF1A FLCN ATP11A SLC25A4 PRMT7 TK2 SLC12A3 PARN IRF2BP2 POGZ LYRM4 JAK2 GNPTAB AK9 SRP54 SMC1A POLG SERPING1 FUZ AIFM1 PCGF2 MT-ATP6 ATXN2 C9orf72 DYNC2LI1 LGI4 PLPBP CHCHD10 NDUFA9 FIG4 TRPM4 IL12B PGM1 WFS1 AGO2 HTRA2 NPM1 CCNF PLA2G6 CDC45 UBA1 HMGCL NDUFA4 MT-TL1 SERPINA1 SLC52A3 ALAS2 OFD1 ATP5F1A ADAMTS13 PNPLA2 VAMP1 RNU4ATAC EPHA4 DAO CACNA1A MT-TS1 TWNK TCIRG1 CRLF1 FAM13A NPAP1 MYL2 TRIP13 MT-TV MT-CYB ABCG8 ASAH1 KRT16 ACAT1 DDC IFT81 SNORD115-1 HP_OSTEOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOLYSIS ATP7A BUB3 BUB1B BUB1 SH3PXD2B UROS SLCO2A1 LMNA GBA HPGD GJB6 ZMPSTE24 IDH1 CDKN2B RETREG1 CDKN1B IL1RN ELMO2 SLC29A3 CBL NOTCH2 IFIH1 CHEK2 IRF5 COL3A1 RUNX1 BANF1 GJB2 MAN2B1 SRSF2 DDR2 KRAS ZBTB20 SQSTM1 SCN9A CTSK KIF1A WNK1 TNFRSF11A CCR6 MTX2 MAFB HNRNPA2B1 PIGL ANTXR2 PTH1R FLNA MMP14 NF1 HNRNPA1 HLA-DRB1 APC CTNNB1 TP53 CCN2 PERP CEP57 NOTCH3 GATA1 IDH2 VDR IKBKG CDKN2C RB1 ELP1 MEN1 TET2 VCP CDKN1A PDGFRB TRIP13 UROD CTSC CAV1 MMP2 MBTPS2 SCARB2 ATL3 FGFR1 ASXL1 TRPV3 HP_CONGENITAL_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_CONTRACTURE ERCC2 PLEC SMPD4 GNB2 CFL2 CCDC47 VIPAS39 COL12A1 SLC18A3 SLC35A3 LMOD3 ERCC5 ZNHIT3 SLC9A6 ERGIC1 NUP88 CHRNG PAX7 ALG14 DHCR24 IBA57 NEK9 FAM20C MYH3 CHRNE TRPV4 MYO9A PSAT1 RAPSN SOX10 CDK5 PLXND1 ERCC1 CHRNA1 ZC4H2 KIF14 SLC6A9 TSEN54 CHST14 MUSK OTUD5 KLHL41 CACNA1E ERBB3 MORC2 ITGB4 CHMP1A HSPG2 MTRFR MYBPC1 KBTBD13 SYNE1 ERCC6 PIGS COL13A1 PPP3CA FKRP KAT6B MED13L ZMPSTE24 MYH8 DSE PIP5K1C YY1 NEB ACADM ASXL1 DNM2 MYOD1 SYT2 CEP55 GBE1 GFM2 GBA ALG3 SLC25A1 AUTS2 FIG4 TGFB3 TPM2 PRG4 VPS33B SCYL2 CAPN3 CNTNAP1 KIAA1109 SNAP25 DOK7 CHAT DPM2 PIEZO2 GCK ACTA1 ASCC1 ITGA6 ADGRG1 SLC5A7 ZNF335 STAC3 GLI3 SRPX2 AGRN ATAD1 SHPK TOR1A TNNI2 KCNJ11 TBCD PDX1 ECEL1 STAT3 POMT2 KIF5C UBA1 PI4KA VRK1 MAGEL2 TPM3 LGI4 MYH2 NALCN TBX4 GLE1 FBN2 PHGDH ADGRG6 MYPN RIPK4 VAMP1 INS KIF1A EXOC7 FKTN POMT1 AIMP1 GFPT1 ZBTB42 BICD2 ADAT3 PLOD2 KCNK9 KIDINS220 LMNA FKBP10 KLHL40 ABCC8 REV3L LZTR1 TRIP4 LARGE1 RFT1 ADCY6 HP_ARTHROGRYPOSIS_MULTIPLEX_CONGENITA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTHROGRYPOSIS_MULTIPLEX_CONGENITA TPM2 ERCC2 PLEC SMPD4 NEB VPS33B GNB2 SCYL2 CFL2 VIPAS39 SLC18A3 SLC35A3 LMOD3 ERCC5 ZNHIT3 CNTNAP1 SLC9A6 ERGIC1 KIAA1109 NUP88 CHRNG SNAP25 DOK7 CHAT PIEZO2 GCK ACTA1 ASCC1 ITGA6 KLHL41 DHCR24 IBA57 SLC5A7 ALG3 NEK9 ZNF335 STAC3 FAM20C MYH3 AGRN SHPK TOR1A CHRNE TNNI2 KCNJ11 TBCD TRPV4 MYO9A PDX1 ECEL1 PSAT1 RAPSN STAT3 SOX10 CDK5 MYH8 PLXND1 ERCC1 KIF5C UBA1 PI4KA CHRNA1 MAGEL2 TPM3 KIF14 SLC6A9 TSEN54 CHST14 LGI4 MUSK OTUD5 CACNA1E ERBB3 ITGB4 CHMP1A ZC4H2 GLE1 FBN2 PHGDH MYPN HSPG2 MTRFR MYBPC1 KBTBD13 RIPK4 VAMP1 SYNE1 INS ERCC6 KIF1A AUTS2 PIGS EXOC7 AIMP1 COL13A1 GFPT1 PPP3CA KAT6B ZMPSTE24 DSE BICD2 PIP5K1C PLOD2 KIDINS220 LMNA MYOD1 FKBP10 KLHL40 SYT2 ABCC8 CEP55 GBE1 GFM2 REV3L GBA LZTR1 SLC25A1 TRIP4 RFT1 ADCY6 HP_KYPHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KYPHOSIS ATP7A KMT2E CCDC32 NF1 GTF2I B3GALT6 NRAS LFNG CFL2 SH3PXD2B SUFU COL12A1 HERC2 SLC18A3 TPM3 ERCC8 TRPV4 RAB3GAP1 RTL1 EBP KANSL1 SVIL GPR101 COL2A1 MMP23B OBSL1 WDFY3 MBTPS2 KMT2C MED25 MPZ ARSL DCC RPS6KA3 SOX9 SPTBN1 ANKRD11 AIMP2 SPEN ALG1 GALNS RAB18 ERCC6 MAP2K1 XYLT2 AGA FLNB OCRL AKT1 PMP22 AIP GRIA4 MYO9A MGAT2 MECP2 RBM28 AIFM1 ASXL2 NXN CHST3 ACTL6B KCNMA1 TBL2 TUBB3 SPG11 ATP6V1B2 KLLN MIR140 SDHC HACD1 HUWE1 GUSB CTBP1 NOTCH3 COG1 BPTF USP7 RERE PRKCZ CDKL5 NSDHL PTPN23 SMS PTEN HSPG2 UBR7 NDN COL1A2 RSPRY1 ALMS1 ROR2 MEG3 SYNE1 COL13A1 PEX7 DVL3 FARS2 MAPK8IP3 ERCC2 MAPT YARS2 SRD5A3 FGFRL1 GNAS CPLX1 MED12L TPM2 WNT3A NCF1 MEGF8 POP1 HPDL ATRX CLIC2 PUF60 DNAJC30 RIPPLY2 UBTF TELO2 CHST14 PIK3C2A SYT2 BCORL1 KDM4B SRCAP CLP1 SETBP1 AEBP1 SNRPN PSMD12 TPI1 MMP2 FKBP14 SLC25A1 PPIB SLC26A2 COL6A3 BCL7B GDAP1 EGR2 GTF2H5 AGO2 PTPN11 AUTS2 GJB1 PTCH1 SHROOM4 ITGA7 JARID2 DYM L1CAM ZMIZ1 DVL1 GBA2 UFSP2 MYO1H TLK2 RECQL4 ERCC1 DYRK1A MPLKIP WASF1 TCTN3 SIL1 WDR81 FKRP CHAT GBA ELN KIF22 LMNA DNA2 NOTCH2 CSF1R KLHL41 EIF4H UPF3B ATAD1 NONO ZBTB20 SVBP VPS37A TOR1A HERC1 FHL1 TANC2 FGFR3 SETD2 MED27 TBX5 UBE4B DKK1 TARS1 CANT1 BUD23 CCDC22 RUNX2 SDHD CNOT3 HTT RYR1 PLOD1 ATG7 TGFB1 SNORD116-1 MAGEL2 SLC39A13 PIEZO2 TCF20 CLDN3 NDUFS3 NPR2 FLNA COL6A1 PUS1 PTCH2 PMM2 PTDSS1 SETD5 KAT8 FBN2 PHF8 CCN6 PLAA IKBKG GTF2E2 NEB ZMPSTE24 MESP2 TMEM165 PWRN1 NAA10 AIMP1 ZC4H2 PHF6 MKRN3 TONSL DOCK3 PWAR1 EXTL3 P3H1 GLE1 SLC52A2 FBN1 CTSK KY PLOD2 CHRNG LETM1 MTTP SEC24D COPB1 NDUFAF1 VPS13B PRKAR1A CUL7 P4HB TRMT1 WASHC5 TMEM270 TRAPPC4 SATB1 HLA-B SLC5A7 FBXW11 LRP5 PDPN KCNA1 TUBB4A HS2ST1 MADD HMGB3 NSD2 TENT5A MYT1L CDH11 BCOR TRAPPC2 FLVCR1 PNKP GTF2IRD1 ALDH3A2 MVK GABBR2 NTNG1 TRIO RAB3GAP2 STXBP1 TRMT10A ACTB NFIX COL6A2 HGSNAT POMT1 WNT1 IDS FKBP10 MYL2 ERLIN2 VAMP1 ATP6V0A2 NELFA GLB1 SLC12A2 GNPTG COL1A1 TBC1D20 SNX14 TMEM43 APC2 GORAB SPART IDUA B4GALT7 LBR EZH2 RNF113A ARID2 METTL27 CBS CRPPA NDRG1 LAMA2 ARID1B MGME1 COMP LMOD3 PRX CUL4B PIK3CA USP8 TBX2 PPP1R12A DLL3 FOXG1 SLC1A2 ACTA1 ACP5 PPP1R15B GRIA3 TTI2 PUS7 SON AMER1 P4HTM SLC10A7 WDR45B SBF2 ERCC3 BIN1 TFAP2A LUZP1 DSE RLIM SYNE2 ACTL6A RFC2 BRAF FUCA1 TAF1 NDUFAF4 ROBO3 ALG9 TNFRSF11B HRAS USF3 SCARB2 SNRPB ABCC6 GTPBP2 CYP27A1 PIGG NEMF TGFB3 PAPSS2 PALS1 KDELR2 RAB23 GNPTAB HGD PRPS1 CLIP2 SMARCAL1 MRPS34 ALDH18A1 ABHD11 SH2B1 DSTYK PDE11A SNAP25 MYH3 NSD1 TMEM231 POLD1 BMP1 FUT8 CRLF1 MAN2B1 FKTN NUP88 LAT2 CTDP1 NUP107 ATP6V1E1 STX1A KCNAB2 TRIP12 AGRN MFN2 CCDC8 NEPRO HES7 DNMT3A SIN3A MLXIPL GZF1 BGN LIMK1 SKI KRAS UBA1 SMC1A JPH1 BAZ1B SURF1 SDHB DPYSL5 MESD POLR3A SLC16A2 SLC52A3 KLC2 HACE1 CLCF1 DDX6 VPS33A MED13 SEC23B WIPI2 FA2H CASZ1 H1-4 PRDM16 KCNN3 NTNG2 DHCR7 SELENON EXOC6B NEU1 GTF2IRD2 MEIS2 BICD2 STAC3 FKBP6 CLDN4 NPAP1 MBTPS1 VPS37D MAP3K20 TNRC6B NARS1 RET GABRD DLK1 PIK3R2 SNORD115-1 EMD LHX3 HP_COXA_VARA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COXA_VARA ATP7A TRPV4 PRG4 XYLT1 RNU4ATAC TCIRG1 SRP54 COL9A3 IHH SERPINF1 CCN6 TRAPPC2 DVL1 ATP6V0A2 SLC26A2 UFSP2 DVL3 HSPG2 KDELR2 COL9A1 PCNT DYM RSPRY1 COL2A1 COL1A1 MEGF8 SBDS ADAMTS2 SLC2A10 RUNX2 EXT2 PCYT1A TONSL FKBP10 FN1 MATN3 TBX4 CANT1 COL9A2 MMP13 NKX3-2 POP1 COL1A2 PEX5 DMP1 FLNB WNT5A ADAMTSL2 COL10A1 CFAP410 AIFM1 FZD2 COMP ORC6 RPL13 DNAJC21 CRTAP EXT1 ENPP1 DDRGK1 HP_ABNORMALITY_OF_THE_KNEE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_KNEE SHOX ATP7A COL11A1 ANKLE2 COL1A1 NF1 GTF2I HBB IARS2 GNB2 CFL2 SH3PXD2B SCN9A KRAS FBN1 COL12A1 HERC2 TPM3 GLI1 MMP13 TRIP11 TGFB1 DPM1 DDRGK1 ANKRD55 SCN1A RAB23 SVIL COL2A1 MCTP2 IDUA COL1A2 AP4S1 UBR7 MYO9A FGFR3 SPTBN1 MATN3 VCP EFL1 RAB33B TBX4 ARF1 CTNS GALNS MAN2B1 RYR1 STXBP1 FZD2 SMAD3 PUS3 GABRG2 DMP1 ZEB2 RBM8A MEFV WASF1 FLNB OCRL TRPV4 ERLIN1 CSGALNACT1 CHST3 SFRP4 TBL2 TUBB3 RECQL4 EP300 RPL13 MAP2K2 DYSF COL9A1 MIR140 HACD1 CANT1 RNU4ATAC IL2RB MIA3 GUSB SATB2 GLI3 CYP27B1 TMTC3 HSPG2 NDN GMPPB LOXL3 SIK3 ERGIC1 RSPRY1 RMRP ZNF699 ZSWIM6 UNC80 CDT1 ARSB EXT2 MPZ EXT1 HYAL1 KRT5 TPM2 NCF1 MEGF8 FLNA FDFT1 CYP3A4 DNAJC30 GMNN PITX1 GDF5 MYLPF COL9A3 SLC26A2 NEDD4L C19orf12 AEBP1 SNRPN COL5A2 COG5 COL6A3 BCL7B SLC35A3 EVC2 ENPP1 PSTPIP1 ITGA7 DYM SEC24C CYP2R1 LMX1B COLQ B3GAT3 SCN2A COMT COL5A1 PSAT1 ATRX JMJD1C C12orf57 ORC1 KIF7 CDC45 SDHAF1 ORC4 NSD1 TNFSF11 ELN KIF22 TNFRSF1A EIF2AK3 ANO5 RUNX2 NOTCH2 KLHL41 EIF4H FN1 VPS13B COL9A2 NKX3-2 PTPN22 BRAF TOR1A CNTNAP1 COL10A1 BUD23 ARFGEF2 KAT6A DHX16 HIRA EVC SNORD116-1 SCARF2 CLDN3 SLC39A8 CREBBP LGI4 PTPN2 TBX1 DPAGT1 ABCC6 SLC18A3 AP4B1 NALCN CCN6 KAT6B ERLIN2 NEB MAP2K1 DDR2 PWRN1 B4GALT7 DPYSL5 VDR SDHB USP9X FKBP10 MKRN3 TONSL ACAN PWAR1 SKI CPT2 HPGD KY BAG3 CHRNG ARVCF AP4M1 PLOD2 PMP22 SDHA FGD1 TRIM2 ERMARD LAMB2 RREB1 TMEM270 CTC1 COL6A1 HS2ST1 SDHD TENT5A LONP1 SLC25A46 TRAPPC2 SLCO2A1 GTF2IRD1 DYNC2LI1 ESCO2 BCOR COMP CA2 SERPINH1 EXOC6B IL2RA COL6A2 RTTN GAN MYL2 STX1B ADGRV1 MYH3 TELO2 GNPTG AP4E1 PRKACA BICD2 TBC1D7 GABRD EZH2 HS6ST1 METTL27 PEPD CDC6 ARID1B CLCN7 XYLT1 LMOD3 SLC6A9 LIFR GLB1 ACTA1 GRIA3 MAP3K7 IHH ZBTB20 CBS P4HTM SLC10A7 PKDCC PLOD1 BHLHA9 HRAS DONSON YY1 TRPS1 RFC2 GABRA1 UFSP2 NRAS PHEX EBP STAT4 COL7A1 PRMT7 ORC6 MAGEL2 ALG2 MAP1B CD247 ARL6IP1 ZPR1 KDELR2 NT5C2 GNPTAB PRKACB ALG14 HGD MCOLN1 CLIP2 SCN1B ABHD11 MYOT GJB2 IFIH1 WNT7A NDUFAF6 LAT2 CENPT CTDP1 MBTPS2 ATP6V1E1 STX1A IFT172 NEPRO B3GALT6 KIF1A RETREG1 CYP19A1 BPNT2 LIMK1 UBA1 MTX2 FLNC PIGY BAZ1B PTEN LMBR1 UGP2 PIEZO2 UFD1 SPART FBN2 IFT57 HCN1 SELENON PTH1R GTF2IRD2 GP1BB PCDH19 RPL10 GFPT1 AIFM1 FKBP6 SRD5A3 ERCC6 CLDN4 PTDSS1 NPAP1 ANAPC1 VPS37D MLXIPL MAP3K20 ASAH1 GPC6 CHST11 TCTN3 NLRP3 PIK3R2 SNORD115-1 WNK1 HP_GENU_RECURVATUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENU_RECURVATUM SKI AP4B1 XYLT1 CANT1 CTDP1 CDT1 PTEN SH3PXD2B AP4M1 GRIA3 AP4E1 MCOLN1 FBN1 TRIP11 NRAS WASF1 KRAS FGD1 COL1A2 B4GALT7 HRAS AP4S1 ANO5 COMP SLC6A9 HP_NEUROPATHIC_ARTHROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUROPATHIC_ARTHROPATHY ATL3 ATL1 SPTLC2 NTRK1 ELP1 SPTLC1 HP_ABNORMALITY_OF_FEMUR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FEMUR_MORPHOLOGY ATP7A RNU4ATAC TRPS1 B3GALT6 TENT5A CCDC47 KCNJ8 AGPS IFNGR1 CLCN5 AMMECR1 RTL1 RAB23 TRPV6 PLEKHM1 TNFRSF11A COL2A1 COL1A1 ARSL CHEK2 RPS6KA3 SGMS2 FGFR3 SOX9 ANKH MATN3 RAB33B TBX4 GALNS MAN2B1 DMP1 RBM8A FLNB TSHB MGAT2 COG4 COG8 POU1F1 COL11A2 PTH1R AIFM1 CSGALNACT1 RFWD3 EP300 RPL13 COL11A1 ERCC4 CRTAP MIR140 NGLY1 OTUD5 CANT1 COG1 SLC12A2 SLC35A2 GLI3 CYP27B1 HSPG2 SUCLG1 LHX3 ARCN1 RSPRY1 RINT1 STXBP1 NANS MEG3 TRIP11 EXT2 PHEX LMNA EXT1 LBR GLB1 POP1 KIAA0586 ATRX GDF5 PIK3C2A SLC26A2 TRPV4 SRCAP TREX1 FBN1 BCR COL9A1 CFAP410 POR CHD7 FLNA NEK8 POC1A ENPP1 LTBP3 DYM CYP2R1 LMX1B IYD SIL1 PDE4D SLC5A5 DVL1 UFSP2 SHOX BRCA2 ORC1 TSHR FUCA1 KIF22 ADAMTS2 EIF2AK3 RUNX2 TCIRG1 FN1 ZBTB16 COL9A2 MMP13 MMP9 NKX3-2 POLR1A ABCC9 FANCA SLC34A3 TMEM38B COL10A1 SRP54 SETBP1 TGFB1 SLC39A13 SCARF2 DNAJC21 CREBBP DDRGK1 FANCB SERPINF1 CCN6 TBX15 B4GALT7 PUF60 FGFR2 TONSL ACAN BMPR1B P3H1 FANCF COL1A2 PEX5 PLOD2 UNC45A PSAP TBXAS1 TPO INPP5K FZD2 BRCA1 CTC1 HS2ST1 RAD51C TRAPPC2 POLR3A COMP SBDS SLC2A10 EXOC6B FKBP10 EXTL3 SLX4 LHX4 ATP6V0A2 GNPTG WNT5A GORAB ADAMTSL2 RASA1 EED TMEM67 EZH2 SEMA3E CDC6 ARID1B MADD XYLT1 GLA XRCC2 COL9A3 PROP1 IHH TP53 SLC10A7 PCNT DUOX2 BHLHA9 HESX1 ZMPSTE24 GNAS AFF3 FANCC RB1 UBE2T EFL1 CRKL RAD51 ALG12 ORC6 CYP27A1 TGFB3 GTF2E2 MAD2L2 LEMD2 PRG4 TMEM251 KDELR2 LIFR GJA1 SMARCAL1 FANCE GPC6 MEGF8 TRAF3IP1 IFIH1 WNT7A FANCI HSPA9 MBTPS2 ACVR1 VDR NEPRO TG NFIX PCYT1A FANCL IFT140 BGN LRP5 MAPK1 MTX2 GBA DVL3 FIBP DUOXA2 CLCN7 DYNC2I1 SALL4 CSPP1 TAPT1 DYNC2H1 ERCC6 CHD4 IDUA CHST3 FANCG PLOD3 RET RMRP BRIP1 FANCD2 DLK1 FANCM PALB2 HP_CAUDAL_APPENDAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAUDAL_APPENDAGE COLEC10 COLEC11 MASP1 DCHS1 FAT4 TRPV4 HP_HIP_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIP_DISLOCATION ATR ATP7A DLL1 COL1A1 GPC4 MKKS LONP1 HDAC8 IARS2 CFL2 CCDC47 COL12A1 SLC18A3 TPM3 PTCH1 SLC35A3 KMT2D B3GALT6 ZIC2 KANSL1 GORAB DNAJC21 MCTP2 TDGF1 OBSL1 SLC2A10 FGF8 ATAD1 NSD2 GEMIN4 NFIX EXOC6B ZNF469 PPP2R5D COL6A2 GLRA1 GDF5 SOX9 SMOC1 MYL2 DHODH GLI3 SLC12A2 TNNT3 TELO2 SLX4 ATP6V0A2 DISP1 CHST3 SIX3 PYCR1 RBM8A WNT5A FLNB OCRL GPHN MYO9A FGFR1 ADAMTSL2 EYA1 GAS1 SMO FOXH1 EFEMP2 NIPBL MBTPS2 RFWD3 PIGL ALDH18A1 XYLT1 LMOD3 ERCC4 SLC6A9 SLC6A5 GLI2 NODAL NGLY1 AARS1 AKT1 HACD1 XRCC2 STAG2 FIG4 ACTA1 ZC4H2 UBE3B COLEC11 PTEN ERGIC1 COLEC10 PLOD1 SHH VAC14 ZMPSTE24 GPC3 COL13A1 HK1 FGFRL1 LMNA COL6A3 CPLX1 TPM2 OSGEP FKRP COL1A2 AFF3 FANCC TGIF1 PUF60 COL3A1 APC GLRB UBE2T SYT2 ALG9 RAD51 AEBP1 YWHAE ATP6V1A COL5A2 RNU4ATAC SLC25A1 CDON FLNA LRP4 ARNT2 SELENON SHROOM4 RAD21 MAD2L2 ITGA7 C12orf57 TMEM251 CTBP1 GNPTAB B3GAT3 POMT2 SIL1 SMAD6 RYR1 SMC1A DVL1 USP9X BRCA2 RECQL4 FANCE DSTYK SNAP25 GSC CHAT MYH3 KDM6A LETM1 KIF22 ADAMTS2 EIF2AK3 IFIH1 WNT7A KLHL41 CUL7 FUT8 THRA FANCI NSDHL GJA1 SEC31A AGRN CCDC8 FANCA TOR1A FHL1 DHCR7 SNRPB FBLN5 MASP1 GMPPB PORCN COL5A1 FANCL ECEL1 CHRM3 BRD4 EIF4A3 HOXA11 MYH8 COX8A IL6ST PYCR2 COL6A1 SF3B4 SIX1 CLTCL1 FANCB PIEZO2 HACE1 TBCD EXOSC3 LARGE1 MYH7 DVL3 TBX15 KAT6B NEB VAMP1 SMC3 PTRH2 DPYSL5 FLI1 TONSL PAFAH1B1 OFD1 HSPG2 BICD2 ATP6V1E1 POMT1 FANCF ERCC1 CD96 CHRNG COL2A1 FANCG FBLN1 MAP3K20 INPP5K FZD2 BRCA1 BRIP1 FANCD2 SLC5A7 MAP3K7 FANCM PALB2 RAD51C HP_MULTIPLE_JOINT_CONTRACTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_JOINT_CONTRACTURES KLC2 PMM2 MUSK MYOT MYH7 B3GALT6 POMT2 RNASEH2C COL12A1 SLC18A3 DNA2 NDE1 LARGE1 MPLKIP GTF2E2 GPKOW MYBPC1 NUP88 PIGS ERCC3 RNASEH2B DOK7 RNASEH2A RFC1 TREX1 MED12 SELENON ERCC2 RTTN ZMPSTE24 COL6A3 SLC1A4 FLNA POMT1 PIP5K1C RAPSN ALG14 FKRP SLC39A14 TGM1 KY FLRT1 LMNA MYOD1 IFIH1 GMPPB SAMHD1 RYR1 RBM28 TRIP4 TARS1 TTN VPS11 UBA1 RNF113A ADAR COL6A2 GTF2H5 COL6A1 HP_ARTHRALGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTHRALGIA TENT5A TRPS1 COL1A1 GTF2I NLRP3 LEMD3 HBB GNB2 UBAC2 TRAPPC2 HLA-DPA1 SLCO2A1 GTF2IRD1 HPGD PTPN22 TNFRSF13B DDRGK1 MVK TYROBP KIT HLA-DRB1 ICOS GPR101 MEFV CD81 CCR1 APOB KLRC4 CBL C4A TNXB EPOR OTULIN PCSK9 MATN3 HFE STAT4 FAS P4HA2 SRSF2 NLRP12 GNPTG ABCG5 MFN2 SLC40A1 AIP COL11A2 HGD JAK2 CHST3 METTL27 SFRP4 TBL2 MAFB FTL TLR4 MLX ASXL1 COPA COMP COL10A1 TNFRSF11B CD19 ASPN GLA STING1 HLA-B RNU4ATAC PSTPIP1 TREM2 MPL ANKRD55 NLRC4 CTNNB1 PKDCC SLC12A3 XPA TNFRSF1A IL12A-AS1 PHEX ADA2 ATP7B COL2A1 LPIN2 NCF1 TNFSF12 HLA-DPB1 RFC2 ERCC4 NOD2 ERCC2 UFSP2 XPC F8 TET2 DNAJC30 PSMB4 SLC26A2 DDB2 ERAP1 COL9A1 COL5A2 MMP2 UBA1 BCL7B NFKB1 C1S CD247 PTH1R VCP KDELR2 HLA-DQB1 ENPP1 PRTN3 NFKB2 NFKBIL1 CLCNKB IL23R LMNB2 CLIP2 ABCG8 ERCC5 ANKH KIF7 ABHD11 IL1RN MYH3 ELN CD244 CIITA IL2RB IL2RA NOTCH2 EIF4H SEPTIN9 IRF5 IL10 LAT2 CR2 MBTPS2 STX1A RUNX1 DSE LDLRAP1 IRAK1 PSMB9 PIGT MSMO1 COL5A1 IL12B CCR6 BUD23 MIF PSMB8 SPP1 LIMK1 CLDN3 PLCG2 LACC1 PTPN2 BAZ1B SLC22A4 ABCC6 APC IL12A CCN6 CCN2 LDLR ERCC3 TREX1 IL6 COL11A1 TNFRSF13C GTF2IRD2 MS4A1 LMNA HLA-DQA1 FKBP6 CLDN4 PRKCD VPS37D MLXIPL CAV1 POMP ASAH1 TMEM270 CTLA4 HP_CALCIFIC_STIPPLING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALCIFIC_STIPPLING PEX5 HSD17B4 EBP GNPAT PEX2 HP_ASPIRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASPIRATION SLC1A3 MATR3 SPECC1L CACNA1A SRPX2 SEC31A FOXG1 ATP1A2 MID1 ATP1A3 PI4KA LAMA2 HEXA GM2A GPHN GRM7 ADNP ATXN8OS DHX16 EP300 GLRA1 ADGRG1 CREBBP SYCE1 LRP12 DCX HP_RECURRENT_BRONCHITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_BRONCHITIS ICOS TNFRSF13B CR2 FCHO1 TNFSF12 NFKB2 GNPTAB RPGR IL17RA DNAJB13 PRKCD MAGT1 NBN TAP1 DNAAF1 CD79B TAPBP MGP HYDIN CD19 CD79A TAP2 CD81 TNFRSF13C IL2RG GAS8 NFKB1 ATM EGFR MS4A1 SMARCA2 HP_URINARY_BLADDER_SPHINCTER_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URINARY_BLADDER_SPHINCTER_DYSFUNCTION ATXN1 HNRNPA1 ABCD1 PIK3R5 MMP1 GBE1 GJC2 FXN SETX KIF1A ATXN3 WASHC5 PMP22 ZFYVE26 ATXN2 FMR1 REEP2 VCP RTN2 COL7A1 KIF5A SPG11 SPAST WWOX HNRNPA2B1 HSPD1 ATL1 SPG7 AP5Z1 NIPA1 MPZ HP_LYMPHADENITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LYMPHADENITIS RAG2 ZAP70 NCF1 IL12RB1 CYBC1 CYBB STAT2 MYD88 RAC2 CXCR4 NCF2 CYBA MVK RAG1 HP_ABNORMAL_T_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_T_CELL_MORPHOLOGY CASP10 FCHO1 LCP2 RASGRP1 KNSTRN RAG2 MAGT1 SMARCAL1 DNMT3B RAG1 CD247 CD3E PIK3CD JAK3 MCM10 CD3G HLA-DPB1 ZAP70 FOXP3 NHEJ1 LEP IVNS1ABP FAS PTPRC IL2RG LEPR RFXANK OTULIN DCLRE1C CD8A WIPF1 RFXAP ADA BTNL2 DOCK8 IL7R BCL10 RAC2 LAT CD4 IKBKB SYK NCKAP1L FOXN1 RIPK1 CTPS1 EPG5 NBN CIITA ACP5 UNC119 LCK WDR1 WAS EXTL3 HLA-DRB1 PRKCD ATP6AP2 AP3B1 FASLG MYC BLM RFX5 ITK NSMCE3 CD3D CASP8 SP110 PGM3 ATM PNP IL7 IL2RA HP_ABNORMAL_B_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_B_CELL_MORPHOLOGY PIK3CD CASP10 IGHM MYSM1 RIPK1 RAG1 CD19 TBX2 FCHO1 LCP2 RASGRP1 SOCS1 CTPS1 KNSTRN RAG2 RAC2 IL21 GFI1 NFKB2 DCLRE1C NBN IKZF1 MCM10 LRBA NHEJ1 UNC119 IKZF3 WDR1 IVNS1ABP ALG12 FAS IL6R PRKCD TET2 ADA TRNT1 DOCK8 IRF2BP2 ICOS FASLG CARD11 BACH2 TCF3 IKBKB BTK SYK STAT1 NCKAP1L MYD88 SP110 JAK3 IL2RA HP_DECREASED_SPECIFIC_ANTI_POLYSACCHARIDE_ANTIBODY_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SPECIFIC_ANTI_POLYSACCHARIDE_ANTIBODY_LEVEL PRKCD CASP10 WAS COG6 RASGRP1 MAGT1 FAS FASLG IL2RA HP_DECREASED_CIRCULATING_TOTAL_IGM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_TOTAL_IGM PIK3CD PRKCD IKBKG CD19 LAMTOR2 TCN2 KNSTRN NFKB2 IRF2BP2 ICOS BLM RASGRP1 FASLG TNFRSF13C CTLA4 CARD11 CNBP RAG1 IL2RG BACH2 ATP6AP1 LRBA TNFRSF11A RAG2 RAC2 FAS SYK PIGT CASP10 CASP8 ADA WAS IVNS1ABP JAK3 PLCG2 MOGS RNF168 EXTL3 IL6R HP_ELEVATED_PROPORTION_OF_CD4_NEGATIVE_CD8_NEGATIVE_ALPHA_BETA_REGULATORY_T_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_PROPORTION_OF_CD4_NEGATIVE_CD8_NEGATIVE_ALPHA_BETA_REGULATORY_T_CELLS PRKCD CASP10 FAS RASGRP1 FASLG HP_GENU_VALGUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENU_VALGUM SHOX ATP7A TENT5A COL11A1 NF1 GTF2I LONP1 HBB IARS2 CFL2 KRAS FBN1 HERC2 GTF2IRD1 GLI1 MMP13 TGFB1 DYNC2LI1 RAB23 DYM BCOR COL2A1 COMP MCTP2 CA2 SERPINH1 IDUA GAN SPTBN1 MATN3 RAB33B CTNS GALNS MAN2B1 PUS3 CHST3 GNPTG ZEB2 PRKACA OCRL CSGALNACT1 HS6ST1 METTL27 SFRP4 TBL2 PEPD TUBB3 CLCN7 LMOD3 MAP2K2 LIFR COL9A1 GLB1 COL9A3 GUSB ZBTB20 HSPG2 CBS NDN LOXL3 P4HTM SLC10A7 COL1A2 RSPRY1 ZNF699 ARSB EXT2 MPZ EXT1 NCF1 MEGF8 TRPS1 RFC2 DNAJC30 PHEX SLC26A2 SNRPN COG5 FN1 NOTCH2 BCL7B MAGEL2 EVC2 ZPR1 KDELR2 B3GAT3 PRKACB ATRX CLIP2 ORC1 EVC FLNA KIF7 ABHD11 NSD1 TNFSF11 ELN KIF22 EIF2AK3 RUNX2 IFIH1 KLHL41 NDUFAF6 EIF4H LAT2 CENPT VPS13B MBTPS2 COL9A2 STX1A NKX3-2 IFT172 TRPV4 NEPRO BRAF B3GALT6 TPM2 BUD23 CYP19A1 BPNT2 KAT6A SNORD116-1 LIMK1 CLDN3 MTX2 BAZ1B UGP2 CCN6 NEB ENPP1 SPART MAP2K1 PWRN1 IFT57 VDR ACTA1 GTF2IRD2 MKRN3 TONSL ACAN PWAR1 SKI FKBP6 PMP22 CLDN4 NPAP1 VPS37D MLXIPL TMEM270 CTC1 SNORD115-1 HS2ST1 HP_MENINGIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MENINGIOMA PIK3CA PDGFB SDHC AKT1 NRAS SDHB NF1 TERT SMARCE1 WRN PTEN LMNA BAP1 SEC23B CDKN2B NF2 CDKN1B SMARCB1 NTHL1 CCM2 SUFU TRAF7 CDKN2C ARMC5 CREBBP MEN1 CDKN1A KRIT1 CHEK2 MN1 USF3 SDHD PDCD10 EP300 GNAS KLLN SMO HP_RHABDOMYOSARCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RHABDOMYOSARCOMA DICER1 NF1 HRAS PAX3 NBN KEAP1 NRAS BUB3 BUB1B BUB1 TP53 CHEK2 TRIP13 FOXO1 PAX7 PTCH1 CDKN2A CEP57 MDM2 MC1R MLH1 SLC22A18 HP_SQUAMOUS_CELL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SQUAMOUS_CELL_CARCINOMA PSENEN ERCC3 CDKN2A RECQL4 ERCC5 WRAP53 NLRP1 KRT14 WNT10A UROS FDPS RSPO1 WRN GJB6 MMP1 MPLKIP TMC8 GTF2E2 SLX4 ERCC2 FERMT1 BRD4 LAMB3 GATA1 MVD GJB2 TYR MVK AAGAB LAMC2 COL14A1 KRT5 IL7 SLC17A9 SASH1 SMARCAD1 DKC1 COL7A1 NTHL1 DOCK8 XPC ANAPC1 TINF2 TNFRSF10B TERC CIB1 OCA2 LAMA3 CTSC NUTM1 POLH TARS1 ING1 RNF113A MC1R DDB2 STAT1 GTF2H5 BLM TMC6 LMNA TERT ERCC4 HP_MELANOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MELANOMA SF3B1 RAD51D RECQL4 RNF43 ERCC5 NRAS PALB2 CDKN2A BRCA2 PTEN WRN BAP1 SLC6A17 DMPK BARD1 AAGAB RAF1 CYSLTR2 CDKN2B RABL3 COL14A1 TERT STK11 RAD51 ERCC2 BRCA1 KANSL1 TP53 GNAQ MGMT TYR CDK4 SDHD MITF MC1R DDB2 MRE11 BRAF BRIP1 PTPN11 KLLN POLH PIK3CA ERCC3 SDHC SDHB POT1 CHEK2 SEC23B PERP GNA11 NBN TERF2IP XPA SMAD4 ERCC6 PALLD RAD50 MMP1 ERCC4 RAD51C XPC COL7A1 ANAPC1 OCA2 CTSC HRAS ACD MBTPS2 MDM2 USF3 KRAS AKT1 CXCR4 TRPV3 HP_MYELODYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYELODYSPLASIA RPS28 RECQL4 RPS15A ATRX BUB3 SRP54 RPL27 BUB1B GFI1 BUB1 ADA2 GATA2 RPL18 NBEAL2 SMARCD2 NAGS BRCA2 FANCE KIT TET2 MPL RAF1 RPL35 SBDS FANCG RPL35A FANCI SRP72 RUNX1 GATA1 SLX4 DDX41 TP53 FANCA SAMD9 RPL15 TINF2 TSR2 RPS19 TERC FANCL RPS7 GNB1 JAK2 RPS27 RFWD3 ASXL1 DNAJC21 ERCC4 PTPN11 SAMD9L NF1 RPL11 MYSM1 XRCC2 FANCB HSPA9 CHEK2 BRAF RPS14 RPS20 THPO RPL5 SH2B3 CEP57 RPL31 HAX1 LIG4 RPS29 FANCF RPS10 RPS26 DKC1 FANCC SF3B1 RPL26 TERT BLM ANAPC1 UBE2T ELANE EFL1 TRIP13 GINS1 CDKN2A RAD51 ADH5 CALR SRSF2 MDM2 BRCA1 UBA1 TCIRG1 RPS17 BRIP1 FANCD2 RPS24 ERBB3 FANCM PALB2 MAD2L2 RAD51C HP_HYPOPLASTIC_ILIAC_WING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_ILIAC_WING TMEM251 SMAD4 TRAPPC2 TBX15 COL2A1 HDAC6 IHH GATA1 DYM CREBBP RTL1 PCNT RIPK4 ERCC6 ERCC8 EP300 FN1 RUNX2 EED EZH2 MEG3 EVC ARSB SOX9 DLK1 WNT7A EVC2 CCBE1 HP_ABNORMAL_ILIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ILIUM_MORPHOLOGY PTH1R ATP7A TMEM251 LMX1B SLC35D1 LONP1 B3GALT6 LIFR IHH SMAD4 FLNB POLR3A TRIP11 INPPL1 RTL1 RAB23 DYM PLEKHM1 COL2A1 EIF2AK3 RUNX2 AEBP1 WNT7A GPX4 RPS6KA3 GLB1 SOX9 CCBE1 MMP13 NKX3-2 GALNS MAN2B1 TRAPPC2 NEPRO ZBTB20 DMP1 GNPTG FUZ COL11A2 PCYT1A FGFR3 AIFM1 ERCC8 BGN EED EZH2 VANGL1 GPC4 EVC SEC23A MATN3 SLC26A2 TWIST2 FLNA TRPV4 ACP5 TBX15 GNPTAB GATA1 CREBBP CCN6 RNU4ATAC VPS33A PLCB3 PCNT RIPK4 WDR19 AMER1 DDR2 NANS MEG3 GPC3 CEP120 ARSB EXOC6B KAT6B EXTL3 HSPG2 HDAC6 RPS19 POP1 PEX5 COL11A1 PAM16 SEC24D IDUA PHEX RMRP ERCC6 EP300 FN1 HLA-B DLK1 IFT81 EVC2 PIGN ENPP1 TNFRSF1A HP_NARROW_ILIAC_WING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_ILIAC_WING SEC24D COL2A1 EIF2AK3 ZBTB20 MATN3 SEC23A NANS RPS6KA3 PEX5 HP_FLARED_ILIAC_WING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLARED_ILIAC_WING RAB23 FLNA MMP13 GPX4 DDR2 TRPV4 IHH AIFM1 BGN EP300 GLB1 GPC3 GNPTG GNPTAB GPC4 ARSB IDUA B3GALT6 TRIP11 PHEX CREBBP VPS33A HP_OBSTRUCTIVE_SLEEP_APNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OBSTRUCTIVE_SLEEP_APNEA SIM1 NGLY1 GNPTAB MAGEL2 CCDC47 GNAI3 AHDC1 BMP2 SATB2 TRPV4 SLC18A3 DNA2 CREBBP NALCN LRPPRC PCGF2 DMPK NFIX VAMP1 ARCN1 NDN SH3BP2 DDB1 SNAP25 CHAT PIGT UNC80 IDUA COL13A1 IDS NONO PLCB4 SKI FXR1 EDN1 HRAS OCA2 ASXL1 AGRN TERT SNRPN SYT2 MYO9A EXOC2 FGFR3 EP300 SLC25A1 SLC5A7 POGZ ATN1 HP_CENTRAL_APNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_APNEA DLL1 SLC2A1 GLI2 NODAL FOXH1 STAG2 INPP5E SHH MAGEL2 PSAP TDGF1 CEP290 CDON SMC1A PTCH1 ZIC2 TECPR2 AHI1 GAS1 FGF8 SIX3 NDN ARSL TGIF1 OCA2 TMEM216 TBR1 DISP1 SNRPN FGFR3 FGFR1 WFS1 RPGRIP1L CISD2 SYT1 TSEN54 HP_APNEIC_EPISODES_PRECIPITATED_BY_ILLNESS_FATIGUE_STRESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APNEIC_EPISODES_PRECIPITATED_BY_ILLNESS_FATIGUE_STRESS VAMP1 SNAP25 SLC25A1 CHAT AGRN SLC18A3 SLC5A7 COL13A1 PDHA1 CHRNE SYT2 MYO9A HP_EXERTIONAL_DYSPNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXERTIONAL_DYSPNEA CRELD1 JAK2 TGFBR2 MYL3 COLQ AK9 RTEL1 PRKAR1A DNA2 POLG FBN1 DSP DPP9 FOXE3 MYH11 EIF2AK4 COA8 MUC5B TERT TRMT5 CHRND COL13A1 MYH6 FIP1L1 SH2B3 EPOR TGFB2 MT-TN TGFB3 CHRNB1 SFTPA2 ZBTB16 NABP1 SCN4A CHRNA1 ACTA2 GATA6 NKX2-5 POLG2 RARA PYGM RAPSN TBX20 TGFBR1 TLL1 BCOR GATA4 NPM1 DOK7 HEY2 CYB5R3 MYLK TET2 SMAD2 ENG SFTPA1 PRKG1 CHRNE SLC34A2 LOX TBL1XR1 MAT2A STAT5B ZMPSTE24 ELN PLEC LMNA SURF1 ABCA3 MUSK NR2F2 TERC SMAD3 MT-TS1 TWNK LRP4 ACADM NEB GYG1 MFAP5 FAM13A CITED2 CYB5A SFTPC RRM2B LAMB2 ACTC1 ATP11A SLC25A4 CSF2RB STN1 AGRN NUMA1 PARN STAT3 PML IRF2BP2 SMAD4 HP_EPISODIC_TACHYPNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISODIC_TACHYPNEA TCTN1 SUFU KIF7 TMEM67 CSPP1 CC2D2A TMEM216 TMEM237 INPP5E KIAA0586 AHI1 B9D1 CEP120 CEP290 CDKL5 ARMC9 FAM149B1 OFD1 KIAA0753 UQCRC2 MKS1 ARL13B CPLANE1 GABBR2 TCTN2 CEP104 FBP1 STXBP1 TCTN3 KATNIP ACADVL PDE6D CEP41 HYLS1 RPGRIP1L PIBF1 NTNG1 MECP2 CBY1 ARL3 SMC1A HP_NOCTURNAL_HYPOVENTILATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NOCTURNAL_HYPOVENTILATION NEB TTN COL6A2 MYH7 PHOX2B CFL2 SELENON FKRP ACTA1 SLC52A3 COL12A1 HNRNPK KLHL41 LMOD3 COL6A3 TPM2 COL6A1 HP_RESPIRATORY_FAILURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_FAILURE NDUFS4 PTCD3 RTL1 CFAP221 PPARGC1A ODAD2 TAF15 TRPV4 TPM3 BCHE CHMP2B LAMB3 CFAP410 PKHD1 SLC2A10 CLPB NUTM2B-AS1 COL13A1 COL6A2 MYL2 IBA57 TARDBP DNAJB13 CHRNB1 HADHA VAPB ALG1 NAXE NDUFB11 SCN4A CCNO DRC1 MATR3 TBK1 TTN LMOD3 HADHB NUP188 GLS ODAD1 DMD ANXA11 MEGF10 MCM4 RSPH3 LYRM7 DOK7 SLC6A9 SPEF2 NKX2-1 SLC25A46 FARSB HACD1 CCDC39 ERBB3 ANG RYR1 ACTA1 PON1 CDC6 CHRNE SLC34A2 GALC SON NFU1 TSC1 IGHMBP2 TSC2 NDUFAF2 PLP1 GLE1 DNAH11 SFTPB MEG3 CDT1 AHCY LAMC2 NDUFAF3 MUSK UBQLN2 SLC25A26 TPM2 NEB FKRP GAS8 LRP4 SMN1 FUS ORC1 RSPH1 GMNN LAMA3 NPC2 TSEN54 CHRNA1 NME8 DSP MTM1 BOLA3 NEK1 INVS TK2 COL6A3 FLNA DNAH5 ODAD4 RPGR DNAAF11 CFAP298 HYDIN RNF168 KLHL41 ITGA7 ABCA3 UBE3B AK9 POMT2 TMEM70 SMAD4 DNAH1 RSPH4A TFG HCCS SQSTM1 DNAAF2 EXOSC8 BSCL2 DMPK DNAH9 MYOT ORC4 ASAH1 MCIDAS CHRND ATXN2 C9orf72 ASCC1 DNAAF4 CHCHD10 TTC12 TREM2 SUCLG1 UNC13A HRAS NBN DNAAF1 FIG4 ACVR1 CFAP300 ATAD1 COL12A1 HNRNPA1 CCDC65 FOXJ1 SCO2 GMPPB SPAG1 VCP RAPSN GTPBP3 ZMYND10 TSFM DNAI1 GATA2 DAG1 NEK10 HTRA2 OSTM1 DLK1 KLHL40 CCNF FAM20C DNAL1 CDC45 MGME1 GAS2L2 PFN1 DCTN1 PON2 DNAI2 PSAP MICOS13 DNAAF6 TBCD LARGE1 LRPPRC DZIP1L ATXN1 SOD1 ODAD3 LAMA2 RSPH9 NDUFS2 JUP PON3 DNAAF3 SELENON GLT8D1 OPTN ERBB4 CCDC40 CCDC103 RNU4ATAC NFS1 EPHA4 BICD2 POMT1 SFTPC CPT2 DAO MTTP CTSD NEFH DNAAF5 PRPH BLM SARS2 NDUFB8 SURF1 OFD1 COX7B TUFM MAP3K20 ORC6 AGRN GAA PEX6 LTBP3 IFT81 LRRC56 COL6A1 CRYAB STK36 HP_ANISOSPONDYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANISOSPONDYLY MIR140 COL2A1 FLNA HSPG2 TRPV4 HP_SUDDEN_EPISODIC_APNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUDDEN_EPISODIC_APNEA GABBR2 VAMP1 STXBP1 SNAP25 SLC25A1 CHAT AGRN SLC25A20 SLC18A3 NTNG1 CDKL5 SLC5A7 COL13A1 FARS2 CHRNE MECP2 SLC39A8 SYT2 MYO9A SMC1A HP_HYPERVENTILATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERVENTILATION CHRNA2 MT-ND3 JRK MT-ND2 TCF4 CHRNA4 CNTNAP2 CIZ1 MT-TL1 MT-ND5 HLCS MT-ND1 FBP1 MT-TK CPLANE1 GABRB3 NRXN1 GABRA1 GABBR2 MT-TV GABRG2 DEPDC5 CDKL5 MT-ND4 CACNA1H CRH MECP2 MT-ATP6 MT-TW SLC2A1 KCNT1 ARL13B CASK UQCRFS1 MT-ND6 CABP4 SYT1 BTD CHRNB2 HP_HEPATOBLASTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATOBLASTOMA SMARCB1 SKIV2L APC SOX4 ARID2 GPC4 SMARCC2 CDKN1C IGF2 KCNQ1 TTC37 SLC37A4 RTL1 DZIP1L SMARCA4 SETBP1 SMARCD1 DPF2 PKHD1 MEG3 GPC3 ARID1B SMARCE1 KCNQ1OT1 DLK1 SOX11 ARID1A HP_MEDULLOBLASTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEDULLOBLASTOMA PALB2 PTCH2 APC BRCA2 DICER1 KEAP1 CTNNB1 ASXL1 TP53 SUFU CHEK2 NBN SMARCB1 PTCH1 CDKN2A MDM2 MLH1 HP_EPENDYMOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPENDYMOMA CDKN2A SETBP1 TSC1 APC NF2 CDKN1B CDKN2C RELA MDM2 TP53 MEN1 CDKN1A IDH1 IFNG TSC2 CHEK2 ERBB2 MLH1 ZFTA CDKN2B HP_THYROID_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THYROID_CARCINOMA PIK3CA SMARCB1 APC GREM1 SDHC SOX4 ARID2 KEAP1 SDHB SLC26A4 NKX2-1 DICER1 PTEN WRN CHEK2 RASGRP1 FOXI1 SEC23B CDKN2B CDC73 DMPK HABP2 CDKN1B SRGAP1 KCNJ10 ARID1B CASP10 BMPR1A FLCN SMARCE1 FOXE1 RET TG FAS HRAS PRKCD MINPP1 CDKN2C PRKAR1A TP53 JAG1 SMARCC2 MEN1 CDKN1A FASLG NRAS SMARCA4 CDKN2A SMARCD1 DPF2 MDM2 USF3 SDHD AKT1 SOX11 KLLN ARID1A HP_PITUITARY_ADENOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PITUITARY_ADENOMA APC USP8 BMPR1A MEN1 MLH1 AIP PKD2 BICC1 SEMA4A PMS1 TSC1 PKD1 CDKN2B KRAS RPS20 CDKN1B TSC2 GPR101 YY1 FAN1 CDH23 MSH6 ALG9 GNAS PIK3CA TGFBR2 CDKN2C PRKAR1A IDH1 PMS2 CDKN1A MLH3 DNAJB11 EPCAM MSH2 IDH2 GANAB HP_NEOPLASM_OF_THE_PANCREAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_PANCREAS PALLD RAD51D STK11 RNF43 BMPR1A PALB2 CDKN2A MLH1 BRCA2 CLCNKB MAFA VHL FLI1 TERT CDKN2B KRAS BARD1 CDKN1B APC AAGAB PTEN TERC RABL3 COL14A1 MSH6 SPINK1 RAD51 NHP2 PIK3CA TGFBR2 BRCA1 EWSR1 NTHL1 PMS2 TP53 MGMT MEN1 CDK4 MLH3 NUTM1 EPCAM MSH2 MRE11 BRIP1 BAP1 CDC73 POT1 CHEK2 SEMA4A PMS1 PARN NBN RTEL1 NOTCH3 RPS20 BRD4 DKC1 TERF2IP NOP10 WT1 CCND1 MITF WRAP53 SMAD4 FAN1 USB1 RAD50 MC1R CDKN2C PRKAR1A TINF2 RAD51C GCGR CTC1 CDKN1A PDGFRB NPM1 ACD MDM2 SLC12A3 HP_PAPILLARY_THYROID_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAPILLARY_THYROID_CARCINOMA SMARCB1 APC SOX4 MINPP1 ARID2 NKX2-1 JAG1 SMARCC2 DICER1 FOXE1 NRAS SMARCA4 SMARCD1 DPF2 SRGAP1 HABP2 ARID1B SMARCE1 SEC23B SOX11 HRAS ARID1A HP_NEOPLASM_OF_THE_LIVER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_LIVER MLH1 APC SOX4 ARID2 GPC4 IL12A BMPR1A SLC2A2 HBB CDKN2A BRCA2 PIK3CA ATP7B SLC37A4 RASGRP1 TNPO3 RTL1 TJP2 NAB2 F5 FAH KRAS PHKA2 KCNJ11 PKHD1 ARID1B CASP10 SMARCE1 RABL3 KCNQ1OT1 FAS MSH6 HMBS HFE INPP5E TRIM28 CEL JAK2 CASP8 TGFBR2 TP53 TRIP13 BMP2 NEUROD1 MET RPGRIP1L PMS2 IL12RB1 JAG1 CDKN1C HNF4A ABCB4 GPR35 SLC25A13 MLH3 SMARCA4 EPCAM DPF2 MSH2 INS SETBP1 IGF2R SMARCB1 PDGFRL CC2D2A SKIV2L PHKG2 KLF11 UROD TCF4 SERPINA1 BLK APPL1 SPRTN MMEL1 KCNQ1 SEMA4A AXIN1 PMS1 DZIP1L STAT6 PDX1 RPS20 ABCB11 SMPD1 PAX4 CPOX MST1 TNFSF15 RELA ABCC8 WT1 HNF1A SMAD4 MEG3 GPC3 GNAS IRF5 REST FAN1 PALLD AHCY H19 BRCA1 ZFTA PRKCD PYGL PRKAR1A SEMA4D SMARCC2 POU2AF1 DIS3L2 IGF2 PPOX TTC37 TMEM67 FASLG GCK CTNNB1 SMARCD1 POU6F2 G6PC1 SPIB DLK1 PALB2 SOX11 ARID1A HP_PARATHYROID_ADENOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARATHYROID_ADENOMA CDC73 MEN1 TSC2 NF1 PRKAR1A IDH2 IDH1 CLCNKB SLC12A3 FLCN CDKN1B RET TSC1 CASR GCM2 HP_EMBRYONAL_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMBRYONAL_NEOPLASM PALB2 H19 FIBP RB1 EXT2 GATA4 IGF2 APC SOX4 ARID2 GPC4 BUB3 BUB1B DIS3L2 PIK3CA BUB1 WT1 SLC37A4 BMPER RTL1 PHF21A STK11 PTCH1 NSD1 PKHD1 ARID1B NR5A1 SMARCE1 KCNQ1OT1 ZFPM2 TRIM28 CHEK2 TRIP13 BRCA2 CDKN1C GPC3 SETD2 APC2 SMARCA4 MSH3 DPF2 SETBP1 SRY VAMP7 DMRT3 POU6F2 BCL10 SMARCB1 SKIV2L TP53 CDC73 HDAC4 KCNQ1 FGFR3 DZIP1L CEP57 REST SOX9 PAX6 MNX1 MEG3 KIT WWOX DICER1 TRIM37 ASXL1 SMARCC2 MAP3K1 NR0B1 BLM TTC37 DHX37 SMARCD1 ALX4 DLK1 SOX11 ARID1A SLC22A18 HP_HYPOKALEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOKALEMIA SCN5A CLCNKB GABRA3 USP8 SCN4B HSD11B2 FXYD2 CTNS KCNJ1 CALM2 AIP SCNN1G SLC12A1 CLCN2 GATM CYP11B1 KCNJ18 SCNN1A NDUFAF6 EHHADH CALM3 SCN4A SLC12A3 CDH23 ATP6V0A4 BSND TP53 CYP11B2 NR3C1 SLC26A3 SCN10A ANK2 SMAD4 SCNN1B CLDN10 KCNE1 CACNA1D CYP17A1 CACNA1S CACNA1C CALM1 AKAP9 KCNQ1 INSR KCNJ5 ATP1A1 CASR BMPR1A UNC45A COL3A1 KCNE3 SNTA1 NOS1AP SLC4A1 KCNE2 SLC2A2 KCNJ10 KCNH2 CLCNKA TBX5 KCNJ2 CAV3 OCRL MAGED2 TRDN SLC34A1 HP_HYPOCALCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCALCEMIA TBX1 SEC24C GNAS CYP2R1 CAV1 FARSB TRPM6 FAM111A HLA-DQB1 GATA3 TCIRG1 CTNS CLCNKB COMT CCBE1 SEMA3E GNA11 CYP27B1 JMJD1C HADHA PPM1B UFD1 FAT4 STX16 RMRP PIK3C2A SLC4A1 RYR1 TNFRSF11A UBR1 SLC3A1 ACADVL ESS2 DGCR2 VDR FOXP3 TBCE ORAI1 ADAMTS3 CSF1R GP1BB CAMKMT GCM2 IFT122 BTK HLA-DQA1 ARVCF PREPL GNAS-AS1 CASR FGF23 CYP3A4 TNFSF11 HADHB PTH DGCR6 RREB1 PDE4D SNX10 ALG12 OSTM1 SLC12A3 HIRA CLCN7 DGCR8 PRKAR1A PLVAP CHD7 CACNA1C HP_HYPERPHOSPHATEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPHOSPHATEMIA TBCE GNAS FAM111A GALNT3 RYR1 STX16 PRKAR1A GNAS-AS1 CASR GNA11 GCM2 PGAP2 TNFRSF11B PTH PDE4D CACNA1S KL HP_MICROSCOPIC_HEMATURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROSCOPIC_HEMATURIA COL4A5 AMMECR1 CTNS CLCN5 ACSL4 NUP85 NOS1AP FN1 INF2 F2 LMNB2 LPIN2 SMARCAL1 LMX1B ADAMTS13 KCNE5 HP_CONJUGATED_HYPERBILIRUBINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONJUGATED_HYPERBILIRUBINEMIA ATP8B1 SLC2A1 VPS33B IL12A GLRX5 SLCO1B3 VIPAS39 SLCO1B1 ABCC2 IL12RB1 POU2AF1 MMEL1 TNPO3 SLC17A5 ABCB11 BAAT TNFSF15 SPIB IRF5 NR1H4 PKHD1 HP_GENERALIZED_AMINOACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_AMINOACIDURIA ETFDH CYP2R1 NGLY1 SLC34A1 CTNS ETFA SLC2A2 FAH ETFB DGUOK GATM CYP27B1 NDUFAF6 EHHADH HP_ELEVATED_HEPATIC_TRANSAMINASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_HEPATIC_TRANSAMINASE POLG2 TRAPPC11 MPV17 CYC1 TRMT10C VIPAS39 HNF1B DPM1 RNASEH2A TNFRSF13B MVK PEX13 OFD1 FADD ATP6AP1 ABHD5 C1QBP SLC30A10 SLC25A13 ICOS NR1H4 CD81 PRF1 SBDS OCLN AKR1D1 FOXP3 CLPB MRPS28 STEAP3 ERCC8 PKHD1 SPTBN1 IER3IP1 ACOX1 HADHA MRPL44 STXBP2 RPGRIP1L HELLPAR AGL GPR35 DNAJC19 IFIH1 SAMHD1 RAG1 UQCRC2 ADK MRPS16 COG8 TFR2 SC5D TREX1 VPS13A ALAS2 ABCB4 SCO1 LIPA BCS1L CPT1A PEX16 DLD RBCK1 TRMU CD19 ATP8B1 NSMCE2 FARSB NGLY1 OTUD5 PHKG2 GLRX5 TCF4 ASL ATM STX11 DMD FARSA MARS1 SLC35A2 DOLK TFAM ATRX CBS SUCLG1 TMEM67 POLG DPM3 CYP7B1 RINT1 ALG6 COX16 RNASEH2B ALMS1 DPAGT1 PYGL SRP54 PALLD AHCY CFAP418 SRD5A3 BRCA1 DPM2 PEPD ADA2 SLC22A5 CFH ATP7B COG4 JAK2 ACAD9 COG6 DNAJC21 TNFSF12 KIAA0586 ACADM KIF23 SEMA4D SLC7A7 GNMT IKZF1 GPD1 PPOX EFL1 DDOST PSMB4 GALT RRM2B RNASEH2C TYMP COG5 SLC25A4 TKFC ABCD3 ADAR PRKCD SLC51B DCDC2 MRPL3 SP110 NFKB1 HADHB ALDOB COG7 HNF4A BICRA HLA-DQB1 VPS33B SLC25A20 SLC2A2 NFKB2 IFT172 CDKN2A DHDDS BRCA2 COX5A EIF2AK3 FLT1 PNPLA2 COG2 HLA-B OCRL FBXL4 IARS1 UNC13D FAH DMPK PHKA2 F5 FBP1 WDR35 ALG8 RAG2 DAXX ACADVL ERCC4 RABL3 POLD1 TANGO2 LIPT1 GYS2 HFE INPP5E CR2 BMP2 SMPD1 CORIN TMEM199 JAG1 HSD3B7 HADH HJV PSMB9 STOX1 CCDC115 SLC37A4 CAVIN1 NOS3 PGM1 TWNK BAAT CPT2 NBAS DGUOK BSCL2 ALG11 ERCC6 PSMB8 MTX2 PMM2 CC2D2A HMGCL HSD17B4 SLC25A15 MICOS13 SERPINA1 LYST TP53 HAMP FAN1 TMEM165 MST1 LHX1 ABCB11 SMAD4 LBR TNFRSF13C CSPP1 NFS1 ALG12 PEX19 MS4A1 GNE SDHD LDHA ATP6AP2 LARS1 YARS2 HLA-DQA1 USP18 MTTP MYH9 AGPAT2 GDF2 BCAT2 CFI ACSF3 SAR1B G6PC1 ASAH1 IL18BP AMACR KRAS GAA PALB2 CD46 HP_METHYLMALONIC_ACIDEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METHYLMALONIC_ACIDEMIA ABCD4 PRDX1 MCEE ACSF3 MMACHC MMUT MMAA SUCLA2 LMBRD1 HCFC1 MMAB MMADHC SUCLG1 HP_MYOGLOBINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOGLOBINURIA PGK1 COQ2 LPIN1 PHKG2 RYR1 HADHA FKRP CPT2 DMD TANGO2 PHKA1 HADH SGCB PYGM LDHA PHKA2 ACADVL CRPPA PFKM CACNA1S ISCU ANO5 HADHB PGAM2 ALDOA HP_HYPERCHLORIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERCHLORIDURIA SLC12A1 CLCNKB BSND CLCNKA KCNJ1 HP_ABNORMALITY_OF_CHROMOSOME_SEGREGATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CHROMOSOME_SEGREGATION CDAN1 TSC1 TRIP13 RAI1 BUB1B NKX2-5 LBR ESCO2 SHH MECP2 GJA1 SEC23B HP_HYPERMAGNESEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERMAGNESEMIA SLC12A3 AP2S1 ALDOB CLDN10 GNA11 CLCNKB CASR HP_KETONURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KETONURIA MCCC1 HMGCL MCEE PCK1 OXCT1 MMAA CA5A TANGO2 SUGCT COX14 MMAB ABCC8 KCNJ11 SDHD PDX1 STAT3 SLC25A13 COX16 INS MMACHC MCCC2 ACAT1 GCK GCDH SLC16A1 GYS2 HP_DECREASED_CIRCULATING_ACTH_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_ACTH_LEVEL TRAF7 PDGFB LHX4 BAP1 PROP1 TERT ARMC5 FOXA2 MEN1 HESX1 GLI2 AIP NFKB2 PIK3CA NF2 SMARCE1 SUFU OTX2 PRKAR1A POU1F1 CDH23 SOX3 LHX3 SMARCB1 PDE11A GNAS SMO AKT1 HP_ABNORMALITY_OF_THE_CEREBROSPINAL_FLUID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CEREBROSPINAL_FLUID LARGE1 KIAA0586 NF1 CCDC88C SUFU TRPV4 MT-ND6 RNASEH2A FANCB ABHD5 DLL1 TDGF1 MPZ SLC25A19 DHCR24 CEP41 BRAF ERCC2 DAG1 CENPF MT-TS2 SIX3 MT-ND1 IFIH1 PIK3CA SAMHD1 MDH2 MT-ND4 FOXH1 INPP5E FGF8 TUBB3 ERCC4 MAP2K2 ERCC3 TCTN1 MT-ND2 RAC3 NGLY1 CCDC39 FIG4 MKS1 USP7 GLI2 NDUFAF3 SLC13A5 SUCLG1 SHH SIK3 NDUFA8 PAK3 VAC14 HNRNPU GPC3 RANBP2 MED12 ARSB TRIM71 TACO1 FKRP AP1S2 PTCH1 GAS8 TMEM237 TRAF3 SLC13A3 B9D1 CLIC2 TGIF1 GBA RARS2 ZIC2 PMP22 DPH1 RNASEH2B RNASEH2C MT-TW MTM1 NDUFS8 FLNA DNAH5 DISP1 B4GAT1 CEBPE RRM2B SLC2A1 BICRA PPP1R21 B3GAT3 AHI1 COMT TK2 MT-ND5 RSPH4A BRCA2 RAD51 FGFR2 POMT1 CDC40 PLG PTCH2 DNAH9 TLR3 KIAA1109 PET100 POMK NODAL COL4A1 B3GALNT2 TTC12 NDUFA12 GALC WDR81 HRAS NDUFS2 HLA-DQB1 NDUFS3 B9D2 CRPPA PPP2R1A FGFR3 CCDC65 FGFR1 MT-TK UNC93B1 IDUA FOXJ1 NDUFA13 PNPO COX8A OSTM1 HIRA PSAP PPP1CB SLC39A8 TBX1 PTDSS1 CC2D2A SLC12A6 TMEM216 AIFM1 NRAS LMBR1 DLL4 ODAD3 MAP2K1 NDUFS4 FKTN TXN2 DNAAF3 POMGNT1 MT-TF NOTCH1 FBN1 CCND2 UNC45A SEC24D CCL2 POMT2 COX6B1 DNAI1 BRCA1 RXYLT1 OGDH ECHS1 TBXT CEP290 RAD51C ODAD2 POLR3A ARMC9 HYLS1 SLC25A24 ESCO2 HELLS COA8 TCTN3 PRF1 OCLN IDS AKT1 NDUFS1 BAP1 SLX4 CHST3 TBCK LRPPRC CCNO TNFSF11 DRC1 MECP2 HPDL CEP104 SMO ERCC8 FTO TMEM67 CEP120 TH CLCN7 MADD PRX KIF7 SH3TC2 SPEF2 MUSK TSC1 LMNB2 CDCA7 MT-CO1 POLG NDUFB11 GPSM2 TRAF7 KDM4B RSPH1 UBE2T B3GLCT NDUFV1 MTRFR HBA2 NME8 TET3 NOTCH2NLC NOTCH2 NEU1 ATP1A2 ODAD4 NDUFAF1 PDHA1 PIK3R2 TMEM107 ZPR1 MT-TL1 DNAH1 STAG2 SHOC2 HCCS MRPS34 EBP FANCE NF2 MTFMT MMACHC COX10 CPT2 ZBTB24 TICAM1 LETM1 DCC DARS2 FANCI MT-CO2 MT-TN NDUFAF6 DNAAF1 MBTPS2 BTNL2 SAMD9 NDUFA10 PEX7 FANCD2 SCO2 NDUFV2 SPAG1 CPLANE1 FANCL ARSA KATNIP OFD1 TP53 DNAL1 GAS2L2 RPGRIP1L NDUFAF5 NDUFAF8 PTEN MT-CO3 MT-ND3 DNAAF6 VPS33A NDUFS6 UFD1 MAF KIF1A NDUFA4 CCDC40 TGFBR2 GP1BB PEX19 DNMT1 SKI RNF125 GNAQ POR TMEM231 PIEZO2 HDAC6 DOCK6 NDUFB8 BCAT2 SURF1 PRNP NPHP1 FAM111A NDUFAF2 MC1R RMND1 TREX1 STK36 LMNB1 MPV17 EML1 B3GALT6 BUB1B CFAP221 ERF KRAS TTR TNFRSF11A RSPO2 CRB2 SPTBN1 P4HB FAM20C DNAJB13 CYP26C1 MAN2B1 NAXE HBA1 PRKAR1A SUMF1 COX7B ARL13B ODAD1 GPC4 RFWD3 TRAPPC12 RSPH3 PYCR1 ZNF423 CBY1 ARL3 CACNA1A PDGFB PDHX GUSB TBX15 SLC12A2 TSC2 CEP83 DNMT3B DNAH11 POMGNT2 FGFRL1 LIPT1 SLC19A3 FOXRED1 HLA-DRB1 CPLX1 COL18A1 VANGL2 VANGL1 NDUFB9 TYMP NARS2 MPDZ PNPT1 ROGDI ADAR RPGR EGR2 TXNDC15 SEC24C ERCC5 PET117 SOX2 L1CAM TMEM138 NDUFAF4 JMJD1C DNAAF2 COX20 TCTN2 SLC29A3 DENND5A CFAP43 AKT3 CSF1R KMT2D DNAAF4 CDON COX15 CTNNB1 NSUN2 ZBTB20 FANCA HERC1 DHCR7 TSPOAP1 PORCN STIL FUZ CCDC22 NEK10 KANSL1 PIBF1 NDUFS7 MTRR TCIRG1 B4GALT1 GCDH PIGU NDUFA1 RASA1 GFM2 WNT3 SDHA NUBPL HSPG2 FANCF CSPP1 KDM6A CTSK MT-TQ GMPPB ARVCF ALG13 PRDX1 RREB1 ERCC6 WASHC5 VSX1 PRRT2 LRRC56 CILK1 TENT5A TRMT10C MT-TS1 RBPJ FLVCR2 LAMB1 RPIA EOGT COX14 GLI3 ZNHIT3 TYROBP MFN2 GCH1 MTHFR NSD2 PIGV STXBP2 TRNT1 GAS1 NDUFA2 SNX10 RECQL4 MT-TH SCN1A KARS1 XRCC2 GFAP PPP2R5D TREM2 TBK1 STX11 AMER1 SOX9 ALDH4A1 SMARCB1 COG6 LONP1 FANCC NDUFA6 NDUFB10 EPHB4 DNAAF11 CFAP298 IFT43 HYDIN MAD2L2 HSD17B10 KDELR2 TAF2 CTBP1 SMOC1 SMC1A ZIC3 UNC13D SLC17A5 MT-ATP6 MCIDAS FTL RPGRIP1 CD59 NDUFA9 PHYH COQ8A IFT172 CFAP300 NDUFA11 SMARCE1 ZMYND10 TGFBR1 HTRA2 SF3B4 FRAS1 ARHGAP31 DNAI2 TERT LIG4 RSPH9 TIMMDC1 CCDC103 DNAAF5 FANCG MT-TV COX4I1 MT-CYB GFM1 NDUFB3 BRIP1 TMEM126B DDC FANCM PALB2 HP_RHEUMATOID_FACTOR_POSITIVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RHEUMATOID_FACTOR_POSITIVE PRKCD CASP10 IL10 SLC22A4 PGM3 STING1 FAS NFKBIL1 FASLG CD244 CIITA CYBC1 IFNGR1 PTPN22 RIPK1 RASGRP1 HP_ELEVATED_CIRCULATING_THYROID_STIMULATING_HORMONE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_CIRCULATING_THYROID_STIMULATING_HORMONE_CONCENTRATION TSHR NKX2-1 PMM2 SLC16A2 CDH23 PAX8 DUOX2 THRB DUOXA2 IYD ALMS1 PRKAR1A TG SLC5A5 SLC35A2 PDGFRB PSMB8 SMARCAL1 SECISBP2 DCAF17 TPO HP_ABNORMALITY_OF_THYROID_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THYROID_PHYSIOLOGY EXT2 FOXE1 GTF2I HBB BUB1B DNAH1 HNF1B KMT2D PTCH1 MT-ND6 FOXI1 EXOSC2 SOX3 DDB1 MMP23B NR1H4 DLL1 TDGF1 FGF8 CLPB GLI2 STEAP3 UBR7 ROBO1 DCLRE1C HFE CTNS MSTO1 SPEN MT-TS2 SGPL1 SIX3 PRKAR1A INSR NEXMIF CDKN1C IRS4 TSC2 IFIH1 PIK3CA SAMHD1 TSHB POLG2 POU1F1 SLC16A2 RBM28 DCAF17 CACNA1S FOXH1 TBL2 STAT3 NKX2-1 GNAS GABRA3 PDGFB ATP8B1 KATNIP IL7R ZIC2 CDON RERE PRKCZ SLC26A4 PLAG1 BAP1 PTEN SAA1 WDR4 CDH23 LHX3 DMXL2 FMR1 MADD HESX1 ALMS1 STAR LIG4 SRD5A3 GLIS3 HLA-DRB1 NCF1 MRAP FOXA2 NODAL TGIF1 LHX4 DNAJC30 HNRNPK PIK3C2A SALL1 RRM2B MT-TW TREX1 SETBP1 ADAR BCL7B ZFP57 WFS1 ARNT2 DISP1 CACNA1C DUOXA2 SEC24C PAX8 BICRA PDE4D IYD SHH FANCI BUB1 COMT EIF2AK3 ANAPC1 SLC5A5 GNE JMJD1C TRH TSHR KISS1R DMPK MCM8 STAT1 UBR1 KCNJ10 ELN MAGEL2 TANGO2 EIF4H NIN ITCH HMGA2 GLI3 FOXP3 PROP1 CTNNB1 AFF4 NPHS1 SETD2 DNM1L UBE4B FGFR1 SNRPN APOE BUD23 SUGCT DUOX2 OPA1 MT-TL1 KANSL1 HIRA CPE DACT1 CLDN3 ADAMTSL1 SMO MDM4 TBX1 TBC1D24 ARL6IP6 RPL10 HSPG2 MPI POLR3GL PLAA TBCK XRCC4 LRBA HYMAI ABCB11 ALG8 USP9X TONSL MT-TF NDN HSD17B3 ADAT3 PMM2 MT-TQ ARVCF MTTP FGF13 SRY TPO RREB1 CEP57 TMEM270 ALX4 PDPN TF TRHR LEPR SUFU IL2RA ABCB4 SIM1 ENPP1 BUB3 MT-TN MT-TS1 GTF2IRD1 RAI1 KCNJ18 DEAF1 KAT6B PHF21A NKX2-5 SLC6A17 FLII C1QBP GCH1 GRM7 TRMT10A LEP TG AKT1 BCOR GPR161 DNAJC19 AIP BMP4 APC2 WDR11 ABCC8 GAS1 PIEZO1 TMEM67 METTL27 PROKR2 MT-TH TRAPPC9 BRAF ATP6V1B2 CHD7 LIFR KARS1 STAG2 RAG1 ACP5 PPP1R15B MEN1 POMC FARSA MARS1 ZBTB20 THRB MT-CO1 MC2R RNASEH2B ABCC6 SLC37A4 IFNG RAG2 LUZP1 SPOP TRAF7 YY1 OCA2 RFC2 AIRE FUCA1 SVBP APC TTC37 B3GLCT DDOST FOXP1 HPD FLCN SLC25A4 SLC12A3 LRP4 NNT CYP27A1 MT-ND4 PLVAP MT-TL2 RNASEH2C CLCNKB SMC1A GATA6 SEMA3E CLIP2 POLG ABHD11 SMARCB1 RNASEH2A NSD1 IGF2 FDX2 FUT8 THRA MT-CO2 TXNRD2 LAT2 KDM6A STX1A KCNAB2 JAK1 BTNL2 SMARCAL1 NF2 SMARCE1 MT-ND1 MLXIPL MT-ND5 IL2RG SCN4A LIMK1 IQSEC2 SKI BAZ1B SKIV2L TERT MT-CO3 POLR3A PLAGL1 GATA1 UFD1 OTX2 TSC1 CASZ1 PRDM16 PTRH2 GTF2IRD2 KCNJ11 STUB1 GP1BB MOGS DYRK1A TWNK IGSF1 POU3F4 FKBP6 ADA CLDN4 VPS37D TRIP13 RMRP GABRD TBL1X CDKN1B PCSK1 HP_DECREASED_ACTIVITY_OF_THE_PYRUVATE_DEHYDROGENASE_COMPLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ACTIVITY_OF_THE_PYRUVATE_DEHYDROGENASE_COMPLEX NDUFA12 NDUFAF6 NDUFS2 FOXRED1 DLAT SURF1 PDHX NDUFS3 NDUFA4 COX15 PDHB NDUFS1 PDHA1 NDUFA10 GLRX5 NDUFS4 NDUFV2 PDP1 NDUFS8 NDUFA2 NDUFAF5 NDUFA13 PET100 NDUFAF2 ECHS1 TACO1 NDUFV1 SDHA MTFMT SLC39A8 LIPT1 SLC19A3 NDUFS7 NDUFA9 HP_DISTAL_SENSORY_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_SENSORY_IMPAIRMENT ATXN1 MME MARS1 MPV17 GBE1 RAI1 MORC2 NDRG1 IARS2 TK2 TRPV4 AIFM1 MED25 LITAF KIF5A PDK3 TFG MTMR2 MFN2 ABCD1 DNM2 POLG SAMD9L CCT5 FGD4 NTRK1 HARS1 AARS1 DARS2 SACS SH3TC2 MPZ NAGLU GAN VCP HSPB1 PRPS1 COX6A1 MATR3 HINT1 GDAP1 SCYL1 CHCHD10 MTRFR SERPINI1 ATP13A2 YARS1 MSTO1 XRCC1 SPTLC2 AASS PMP22 LMNB1 PIK3R5 INF2 IGHMBP2 RASA1 DYNC1H1 BSCL2 MCM3AP SPG11 NEFH REEP1 TDP1 PRX TWNK JPH1 SLC25A46 ABHD12 DNAJB2 SBF1 COA7 KIF1B GARS1 GJB1 ATL1 NEFL DCAF8 KLHL9 PNKP SOX10 CYP7B1 IBA57 SBF2 KARS1 LMNA HSPB8 ATL3 NAGA ALDH4A1 POLR3A SETX PLEKHG5 GJC2 HK1 TYMP APTX BAG3 ATP7A MTTP GNB4 KIF1A SPTLC1 DDHD1 C19orf12 CAPN1 PEX10 FBLN5 DHH EGR2 CAV1 FIG4 LRSAM1 HP_HEMIVERTEBRAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIVERTEBRAE PTCH2 TBC1D24 TMEM251 SOX2 TBX2 RAD21 SUFU SEMA3E DVL1 GLI3 DVL3 SON PUF60 TMCO1 ORC1 RTL1 POR IKBKG ROR2 CDK10 MESP2 MBTPS2 MADD MEG3 KMT2D FGFR1 DLL3 PTCH1 KDM6A TBX6 MYH3 ATRX CAPN15 JAG1 WNT5A RIPPLY2 B3GLCT EBP HES7 CCDC22 EIF5A FZD2 WASHC5 CHD7 FANCB STAG2 DLK1 KYNU ATP6V1B2 WNT7A SIX6 HP_LUMBAR_HYPERLORDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LUMBAR_HYPERLORDOSIS TPM2 LMX1B RERE ALG14 ALX3 TRAPPC2 RAB3GAP2 FGFR3 GARS1 SHOX SMARCAL1 MYBPC1 BCOR PCGF2 FUCA1 ACAN ITCH VCP COL2A1 VPS13B TPM3 KY PLEC POMT1 HERC1 COL6A2 ACTA1 SLC26A2 COL11A2 FBN1 SOX5 BGN SGCG DAG1 MFN2 MATN3 XYLT1 COMP COL10A1 SYT1 DDRGK1 DPAGT1 CLCF1 NPR2 TRPV4 OBSL1 SATB2 PIEZO2 HACE1 IHH NSDHL DYM MYPN MYH7 VPS33A SON POLR3GL GMPPB POMK ADAMTS10 ACP5 MED12 TOGARAM1 ARSB COL6A3 TONSL FKRP EXTL3 HSPG2 GFPT1 COL12A1 CHST3 RYR1 POMGNT1 POMT2 NAA10 FN1 RMRP ALG2 SELENON COL6A1 HP_THORACIC_KYPHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACIC_KYPHOSIS MAN2B1 MIR140 MED12L COL2A1 NPR2 ANKRD11 TRPV4 CDH11 POP1 FLNB GUSB KY XYLT2 SRD5A3 NEPRO TRAPPC2 GNPTAB PUF60 PHF8 DYM ALDH3A2 VPS33A SMARCAL1 CCN6 PIK3C2A SLC26A2 MPLKIP MGAT2 GTF2E2 AMER1 TARS1 FGFR3 NARS1 WDR81 AIFM1 ERCC3 RNF113A GBA KIF22 TMEM231 GTF2H5 ERCC2 CYP27A1 TONSL EXTL3 LHX3 HP_THORACIC_SCOLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACIC_SCOLIOSIS TPM2 MOGS AK9 TBX5 CHRNE SPRTN MYPN PCGF2 PLOD1 WDR81 ALMS1 CHRND PUF60 COL13A1 AEBP1 ZMPSTE24 RBBP8 ITCH MUSK SGCA VPS13B CHRNB1 LRP4 PEX5 GDF3 SCN4A LMNA DES CHRNA1 IARS2 ERLIN1 HINT1 MTRFR RAPSN NEK9 COL2A1 SOX5 TPM3 AGRN TUBB3 DOK7 PIK3R2 PYCR2 SH3TC2 HP_THORACOLUMBAR_SCOLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACOLUMBAR_SCOLIOSIS TBC1D24 CLCF1 NIN LONP1 CDH11 POP1 RPL10 PDGFRB PIEZO2 NEPRO GNPTAB ROR2 COL6A2 COL2A1 ROBO3 CCN6 SLC26A2 MGAT2 COL1A2 MYO18B RSPRY1 IGBP1 ALMS1 IL6ST ATG7 USP9X GLIS3 ATP6V1B2 PAPSS2 LHX3 HP_INTERVERTEBRAL_SPACE_NARROWING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERVERTEBRAL_SPACE_NARROWING MT-TL1 COL2A1 CHST3 FN1 RRM2B LTBP3 MT-ATP8 TRAPPC2 HP_SUPERNUMERARY_VERTEBRAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPERNUMERARY_VERTEBRAE GPC4 DHODH GDF11 PAX3 GPC3 HP_CERVICAL_KYPHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CERVICAL_KYPHOSIS TENT5A KDELR2 MBTPS2 FLNB SLC26A2 RIPPLY2 ARSL CHST14 DSE HP_VERTEBRAL_FUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTEBRAL_FUSION PTCH2 FLNA RAD51 ABCC6 GPC4 CTBP1 ENPP1 FANCI MAFB SMAD4 GDF5 HGD NOTCH3 FGFR2 MEOX1 SUFU MAP3K7 MYH3 DCC NTN1 GDF6 DKK1 PUF60 ROR2 SALL4 KANSL1 COL2A1 MESP2 IL1RN GDF3 FKRP LETM1 GPC3 NADSYN1 WBP11 NSD2 FGFRL1 CHRND CPLX1 DLL3 DNAL4 CHRNA1 ANKRD11 PTCH1 BMPER TBX6 ACVR1 CHRNG RBM8A FLNB AFF4 FUZ SOX2 FGD1 HES7 MYO18B SOX5 FN1 VANGL1 CHN1 NOG SIX6 SH3TC2 HP_FUSED_CERVICAL_VERTEBRAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FUSED_CERVICAL_VERTEBRAE FLNA RAD51 ABCC6 DNAL4 ENPP1 ACVR1 FANCI CHRNG GDF3 FGFR2 MEOX1 MAP3K7 PUF60 GDF6 RBM8A MYH3 AFF4 DCC FLNB NTN1 DKK1 COL2A1 MYO18B IL1RN SALL4 WBP11 NOG HP_VERTEBRAL_COMPRESSION_FRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTEBRAL_COMPRESSION_FRACTURE P3H1 TENT5A P4HB KDELR2 MBTPS2 WNT3A CREB3L1 USP8 DNAJC21 PLS3 SERPINF1 MESD AIP GBA PYCR1 FKBP10 EFL1 GORAB CCND1 DKK1 DDRGK1 TNFRSF11A SBDS SRP54 XYLT2 MMP2 NOTCH2 SCARB2 SERPINH1 UROS WNT1 CRTAP SPARC HP_GRANULOMATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GRANULOMATOSIS HLA-DPA1 CTLA4 CYBB NCF2 PRTN3 HLA-DPB1 CYBA ASAH1 NCF1 PTPN22 HP_IMMUNE_DYSREGULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMMUNE_DYSREGULATION PRF1 STX11 UNC13D STAT1 FOXP3 PLCG2 LEPR STXBP2 ACP5 LAT HP_AUTOIMMUNITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTOIMMUNITY TNFRSF13B NRAS C1R IRF5 C3 CFHR3 GFI1 HLA-DPA1 LACC1 IFNGR1 GRIN2A KMT2D TREX1 NFKB2 CTLA4 KRAS C2 ANKRD55 HLA-DRB1 C4A PTPN2 CAV1 ICOS HNF1A CD81 CD3G ZAP70 TNFAIP3 FOXP3 IL2RA FAS ADA2 ITCH CSF2RB RFXANK DCLRE1C STAT4 TPP2 PGM3 PIK3R1 CD247 RFXAP FCGR3B ADA SERPING1 IL7R DNASE1L3 GPR35 NLRP1 IFIH1 SAMHD1 RAG1 LAT BACH2 C1QC CD19 ARHGEF1 RHCE TNFRSF13C PTPN22 STAT3 COPA RHAG STING1 FOXD3 IL2RB SRP54 TBX2 ACP5 TCF4 CYBC1 C1QA C1S PNP CIITA MS4A1 C1GALT1C1 TNFSF15 RNASEH2B CHD7 LCK WAS COL4A6 RAG2 PEPD FCGR2A C1QB TNFSF12 HLA-DPB1 BTK FASLG CR2 SEMA4D COL4A5 SLC7A7 DNASE1 PTEN RFX5 ITK MMP2 MTHFD1 UBA1 TCIRG1 ADAR CCN2 SLC12A3 PRKCD POLG NFKB1 SEC23B CASP10 SEC24C FCGR2B SEMA6B CFHR2 IL12A PRTN3 LCP2 RNASEH2C NFKBIL1 CLCNKB COMT RASGRP1 SOCS1 FLT1 LMNB2 RIPK1 JMJD1C MAGT1 TNPO3 KIAA0319L STAT1 RNASEH2A CD244 NHEJ1 TRAC TTC7A GALC IL10 KDM6A NBN PAX4 CORIN DDX41 IL12RB1 IRAK1 SMARCAL1 STOX1 CCR6 HIRA MIF RHD IL2RG SPP1 TBX1 SLC22A4 HLA-DQB1 MMEL1 WIPF1 PLCG2 UFD1 C8A MASP2 SMPD1 LRBA MST1 HAVCR2 IL6 GP1BB FMR1 ARVCF POU2AF1 FADD ELANE LIG4 RREB1 PSMG2 IL18BP ITPR3 RMRP CSF2RA SPIB CFTR AIRE CDKN1B STIM1 HP_DYSGAMMAGLOBULINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSGAMMAGLOBULINEMIA XIAP CD40LG SH2D1A NBN IKBKG HP_ABNORMAL_DELAYED_HYPERSENSITIVITY_SKIN_TEST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DELAYED_HYPERSENSITIVITY_SKIN_TEST CASP10 JAK3 WAS FAS NSMCE3 RFXANK CIITA EPG5 RFX5 RAB27A FASLG RFXAP HP_CUTANEOUS_ANERGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTANEOUS_ANERGY JAK3 RFXANK CIITA EPG5 RFX5 RFXAP HP_CUBITUS_VALGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUBITUS_VALGUS SHOX PTH1R CLCF1 LARS2 KRAS EVC2 PEX1 DYNC2LI1 EVC PEX5 WNT4 NOG MAP2K1 RSPRY1 SIL1 BCOR SHOC2 KDM5C GLI1 LMX1B RAF1 BRAF VPS13B NUP107 SOS1 POP1 GJA1 POR PTPN11 FGF9 CHST3 SRY BPTF CBL LZTR1 PSMD12 NF1 MAPK1 TUBB3 MAP2K2 PEX2 CUL4B HP_GENU_VARUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENU_VARUM DYM CYP2R1 RECQL4 MATN3 CANT1 TRPV4 COL9A3 IHH CFL2 CCN6 SLCO2A1 FGFR3 CYP27B1 TRIP11 C12orf57 ORC1 DDRGK1 NEB ENPP1 RAB23 COL9A1 COL2A1 COL9A2 RMRP VDR KIF22 ACTA1 KLHL41 ACAN FN1 EFL1 MMP13 HPGD NKX3-2 COMP UFSP2 DMP1 CYP3A4 RBM8A ANAPC1 PHEX TPM2 COL10A1 KAT6A TCTN3 ORC6 XYLT1 RPL13 LMOD3 TONSL SHOX HP_REDUCED_DELAYED_HYPERSENSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_DELAYED_HYPERSENSITIVITY CASP10 FAS NSMCE3 RAB27A FASLG HP_ABNORMALITY_OF_THE_FOREARM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FOREARM SHOX ATR TENT5A A2ML1 SALL4 COL1A1 GTF2I HDAC8 B3GALT6 COLEC10 RIT1 MAFB GDF5 LMBR1 KRAS FLNB GTF2IRD1 FANCB BMPR1B RAF1 HOXD13 TPM2 TBX3 BCOR SF3B4 OBSL1 NSD2 EXOC6B IFITM5 FANCA LMX1B FGFR2 DHODH BANF1 CBL EXTL3 FANCC SLX4 CHST3 PRKAR1A RBM8A SOS2 FGFR3 MMP9 MASP1 NDN PLXND1 TMEM67 METTL27 NIPBL TBL2 SOS1 RECQL4 RFWD3 ARID1B COMP COL10A1 NOG ERCC4 MAP2K2 LRP4 CHD7 RNU4ATAC XRCC2 COL9A3 NRAS TBX15 MAP3K7 FGFR1 GLI3 IHH MAF COLEC11 CYP26B1 B2M PCNT BHLHA9 MYH3 EXT2 RBM10 KAT6B FGFRL1 TBX22 DONSON MAGEL2 CPLX1 AFF3 NCF1 RFC2 TRIP11 APC DNAJC30 UBE2T RRAS2 SRCAP SETBP1 RAD51 AEBP1 COL5A2 ALG12 NOTCH2 POR CD96 FLNA BCL7B IFT43 COL2A1 CHN1 RAD21 MAD2L2 CCNQ PTPN11 KDELR2 BICRA CTBP1 B3GAT3 FANCI SMAD6 TBX5 RAB3GAP2 SEMA3E SLC26A2 ZIC3 BRCA2 CLIP2 FANCE FZD2 ABHD11 MMP13 FANCF CHSY1 GPC6 MECOM GSC LETM1 ELN IFIH1 WNT7A COL7A1 BMP1 EIF4H ZBTB16 LAT2 MBTPS2 COL9A2 STX1A HOXA11 CCDC8 JAG1 BRAF RRAS AFF4 SAMD9 FANCD2 COL5A1 MLXIPL FANCL BRD4 CANT1 BUD23 EIF4A3 BGN NALCN ASXL1 RAI1 TGFB1 FGF23 SLC39A13 SCARF2 PIEZO2 LIMK1 CLDN3 FGF10 BAZ1B XYLT1 NPR2 TRPV4 PIGT CREBBP TRIO MRAS EXT1 PDE4D COL9A1 TNNT3 RIPK4 MAP2K1 SMC3 LZTR1 TNNI2 B4GALT7 DHCR7 SNRPN TAPT1 SMC1A GTF2IRD2 ESCO2 FKBP10 COL27A1 MACROH2A1 RPL26 SKI P3H1 RPS19 ERCC1 PITX1 VPS35L DYNC2H1 COL11A1 CHRNG FKBP6 CLDN4 PTDSS1 FGF9 RASA2 AGA ANAPC1 VPS37D FANCG RAD51C TWIST1 CUL7 REV3L EP300 BRCA1 TMEM270 KIF22 BRIP1 SHH IFT81 FANCM PALB2 HP_RADIOULNAR_SYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RADIOULNAR_SYNOSTOSIS A2ML1 SALL4 PTPN11 BICRA GTF2I CTBP1 HDAC8 B3GALT6 B3GAT3 COLEC10 SMAD6 RIT1 GTF2IRD1 COLEC11 CLIP2 KRAS POR ABHD11 RAF1 CHSY1 BCOR MECOM LETM1 ELN NSD2 TBX22 EIF4H LAT2 DHODH STX1A CBL CHST3 HOXA11 RRAS SOS2 TBX5 MASP1 MLXIPL BRD4 BUD23 METTL27 FGFR2 NIPBL TBL2 SOS1 PIEZO2 LIMK1 CLDN3 SF3B4 BAZ1B XYLT1 NRAS MAF MRAS KAT6B SMC3 LZTR1 B4GALT7 SMC1A GTF2IRD2 FGFR3 FGFRL1 ESCO2 DONSON RPL26 CPLX1 CANT1 NCF1 RFC2 FKBP6 CLDN4 APC RASA2 DNAJC30 VPS37D RRAS2 TWIST1 SETBP1 TMEM270 BCL7B LRP4 RAD21 HP_BOWING_OF_THE_LEGS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BOWING_OF_THE_LEGS SHOX FIBP ATP7A TENT5A COL11A1 NF1 GTF2I LONP1 HBB IARS2 CFL2 CCN6 KRAS FBN1 SLCO2A1 HERC2 FLNB GTF2IRD1 GLI1 POR MMP13 CLCN5 TRIP11 TGFB1 DYNC2LI1 RTL1 DDRGK1 RAB23 DYM TRPV6 COL9A2 BCOR COL2A1 COMP MCTP2 CA2 SERPINH1 IDUA COL1A1 GDF5 SGMS2 FGFR3 GAN SOX9 SMOC1 SPTBN1 MATN3 EFL1 RAB33B CTNS GALNS MAN2B1 PUS3 CHST3 DMP1 GNPTG ZEB2 RBM8A PRKACA OCRL GORAB CYP2R1 CSGALNACT1 SLC34A3 HS6ST1 METTL27 SFRP4 TBL2 PEPD TUBB3 CLCN7 XYLT1 COL10A1 RPL13 LMOD3 MAP2K2 CRTAP LIFR COL9A1 CANT1 GLB1 COL9A3 GUSB ACP5 SATB2 IHH ZBTB20 CYP27B1 HSPG2 CBS NDN LOXL3 P4HTM SLC10A7 PCNT COL1A2 RSPRY1 BHLHA9 RMRP ZNF699 MEG3 MTAP ARSB EXT2 PHEX MPZ EXT1 NCF1 MEGF8 TRPS1 RFC2 UFSP2 COL11A2 CYP3A4 DNAJC30 SLC26A2 SETBP1 SNRPN COG5 FN1 NOTCH2 FLNA BCL7B ORC6 MAGEL2 NEK8 EVC2 ENPP1 PAPSS2 RECQL4 ZPR1 KDELR2 B3GAT3 PRKACB FGFR2 ATRX C12orf57 CLIP2 ORC1 EVC KIF7 ABHD11 CDC45 NSD1 TNFSF11 ELN KIF22 EIF2AK3 RUNX2 IFIH1 WNT7A KLHL41 NDUFAF6 EIF4H LAT2 CENPT VPS13B MBTPS2 STX1A MMP9 NKX3-2 VDR IFT172 POLR1A TRPV4 NEPRO BRAF FGF23 B3GALT6 PCYT1A TMEM38B TPM2 BUD23 CYP19A1 BPNT2 KAT6A ALPL SNORD116-1 SCARF2 LIMK1 CLDN3 MTX2 BAZ1B CLTCL1 EHHADH UGP2 RNU4ATAC NEB SPART MAP2K1 DDR2 PWRN1 IFT57 ACTA1 DYNC2I1 GTF2IRD2 MKRN3 TONSL ACAN PWAR1 SKI P3H1 HPGD DYNC2H1 FKBP6 PLOD2 PMP22 CLDN4 NPAP1 ANAPC1 VPS37D MLXIPL TMEM270 TCTN3 CTC1 DLK1 SNORD115-1 HS2ST1 HP_FEMORAL_BOWING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEMORAL_BOWING TENT5A CYP2R1 KDELR2 LIFR FGFR2 POR CLCN5 CYP27B1 DYM RNU4ATAC TRPV6 RSPRY1 BHLHA9 DYNC2I1 SOX9 WNT7A PHEX GDF5 SGMS2 FLNA MAN2B1 P3H1 MBTPS2 MMP13 VDR DYNC2H1 POLR1A PLOD2 NEPRO DMP1 SLC34A3 FGFR3 PCYT1A TMEM38B COL1A2 GORAB COL10A1 COL1A1 RMRP NEK8 SCARF2 COL11A1 ENPP1 HP_ABNORMALITY_OF_THE_CALF http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CALF SHOX ATR ATP7A COL11A1 LMBR1 NF1 GTF2I SLC35D1 HBB IARS2 TENT5A CFL2 SCN9A KRAS FBN1 HERC2 GLI1 MMP13 CLCN5 TRIP11 TGFB1 RTL1 DDRGK1 SCN1A RAB23 TRPV6 COL2A1 MCTP2 IDUA MET CHEK2 GPX4 SGMS2 FGFR3 SOX9 SMOC1 SPTBN1 MATN3 EFL1 RAB33B CTNS GALNS MAN2B1 STXBP1 PUS3 GABRG2 DMP1 ZEB2 RBM8A FLNB OCRL PTH1R AIFM1 CSGALNACT1 CHST3 SFRP4 TBL2 TUBB3 RPL13 MAP2K2 CRTAP COL9A1 CANT1 GUSB SATB2 TBX15 SLC35A2 GLI3 CYP27B1 HSPG2 NDN LOXL3 COL1A2 RSPRY1 RMRP NANS ZNF699 ZSWIM6 MEG3 MTAP ARSB EXT2 PHEX MPZ EXT1 NCF1 MEGF8 BMPR1B COL11A2 TCTN3 CYP3A4 DNAJC30 PITX1 GDF5 SETBP1 SNRPN COG5 POR CHD7 FLNA BCL7B NEK8 EVC2 ENPP1 DYM CYP2R1 RECQL4 B3GAT3 SCN2A DONSON SLC26A2 ATRX C12orf57 ORC1 KIF7 CDC45 NSD1 TNFSF11 ELN KIF22 EIF2AK3 RUNX2 KLHL41 EIF4H FN1 ZBTB16 VPS13B COL9A2 MMP9 NKX3-2 POLR1A TRPV4 NEK1 BRAF FGF23 AFF4 SLC34A3 TMEM38B TPM2 COL10A1 FGFR2 BUD23 KAT6A EVC SNORD116-1 SCARF2 CLDN3 CCN6 NEB MAP2K1 DDR2 PWRN1 VDR SLC29A3 MKRN3 TONSL ACAN PWAR1 SKI P3H1 HPGD PLOD2 PMP22 TBXAS1 COL1A1 TMEM270 CTC1 HS2ST1 FIBP LONP1 TRAPPC2 SLCO2A1 GTF2IRD1 INPPL1 DYNC2LI1 BCOR COMP CA2 SERPINH1 ACTB LMX1B GAN STX1B ADGRV1 GNPTG PRKACA GORAB GABRD HS6ST1 METTL27 PEPD SEMA3E CLCN7 XYLT1 LMOD3 LIFR GLB1 COL9A3 ACP5 IHH ZBTB20 TP53 CBS AMER1 P4HTM SLC10A7 PCNT BHLHA9 PAPPA2 EN1 INTU IFT122 AFF3 SHH TRPS1 RFC2 RB1 GABRA1 UFSP2 ALG12 NOTCH2 ORC6 MAGEL2 CYP27A1 DDX6 PAPSS2 ZPR1 KDELR2 PRKACB CLIP2 SCN1B ABHD11 IFIH1 WNT7A NDUFAF6 LAT2 CENPT MBTPS2 STX1A IFT172 NEPRO B3GALT6 PCYT1A EIF4A3 CYP19A1 BGN BPNT2 ALPL LIMK1 HYLS1 MTX2 BAZ1B CLTCL1 EHHADH UGP2 RNU4ATAC SPART IFT57 HCN1 ACTA1 DYNC2I1 TAPT1 GTF2IRD2 PCDH19 DYNC2H1 FKBP6 CLDN4 NPAP1 ANAPC1 VPS37D MLXIPL GPC6 DLK1 SF3B4 SNORD115-1 HP_TIBIAL_BOWING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TIBIAL_BOWING SHOX CYP2R1 CLTCL1 LIFR COL1A2 SATB2 SMOC1 FLNB CLCN5 CYP27B1 DYM RTL1 RMRP FIBP PCNT MEG3 SOX9 COL1A1 PHEX P3H1 MMP13 VDR COL11A2 DMP1 COL2A1 SLC34A3 CHST3 FGFR3 PCYT1A GORAB COL10A1 SETBP1 FN1 FLNA DLK1 ENPP1 HP_MICROMELIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROMELIA CEP120 TENT5A GDF5 DYNC2LI1 KDELR2 KIAA0586 SLC35D1 HDAC8 IHH DONSON DVL1 TRPV4 TRIP11 INPPL1 HYLS1 FGFR2 BMPR1B EVC IDH1 RMRP ACTB WDR19 WDR35 COL2A1 GPC6 IFT80 SERPINH1 OBSL1 NIPBL GLI1 SHOX ANTXR2 DYNC2I1 ACAN GLUL FAM20C MBTPS2 TTC21B CCDC8 CDKN1C FLNB WNT5A DHCR7 FGFR3 PRKAR1A SLC26A2 DYNC2I2 PSAT1 POLE BRD4 PTH1R SMO CSGALNACT1 HHAT MATN3 DYNC2H1 NBAS COL11A1 CRTAP KIF7 DDRGK1 LIFR IFT172 ADAMTS2 PHGDH DHCR24 EVC2 DVL3 RNU4ATAC HSPG2 PDE4D DDR2 SMC3 IDH2 PUF60 WNT7A SMC1A LBR DPYD CD96 PAM16 APC B3GLCT CUL7 PCNT COL11A2 FZD2 TCTN3 IFT140 LRP4 IFT81 IFT43 ALPL CILK1 RAD21 HP_HYPOPLASIA_OF_THE_RADIUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_RADIUS CCNQ SF3B4 ATR SALL4 NPR2 FANCI MAFB TBX5 IHH SHOX SLX4 PDE4D FANCF TBX3 FGFR2 RFWD3 RBM10 WNT7A FGFR3 ESCO2 NIPBL GDF5 DONSON RPL26 DHODH RPS19 FGF10 TRIP11 APC AFF4 PRKAR1A RAD51C EIF4A3 ALG12 RECQL4 FANCB LRP4 IFT81 CHN1 HP_RADIAL_BOWING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RADIAL_BOWING P3H1 B2M PCNT NPR2 MMP13 GLI3 HOXA11 TRPV4 COL11A1 TMEM67 FLNA FLNB WNT7A SHOX FGF23 SLC26A2 B3GALT6 IFT43 GDF5 HP_ELBOW_FLEXION_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELBOW_FLEXION_CONTRACTURE ATR ERLIN2 B3GAT3 LIFR GNB2 SLC25A46 COL12A1 CAPN3 TPM3 SELENON SLC26A2 B3GALT6 ESCO2 FLNA SVIL GJB2 MYH3 SYNE1 KIF22 LMNA ANO5 COL6A2 NIPBL FBN1 FKBP10 LMX1B MYL2 DDR2 KY TPM2 CHST3 TOR1A SNRPB TMEM43 TRPV4 PITX1 ECEL1 LAMA2 SCARF2 PSMB8 PYCR1 SLC39A8 SLC6A9 UBA1 LGI4 PIGY HACD1 ACTA1 NALCN EMD MAP3K7 COL6A1 SPRTN TBX15 RNU4ATAC ALDH18A1 SIK3 P4HTM ERGIC1 FBN2 PLOD1 FHL1 UNC80 LARGE1 EXOC6B SLC29A3 TFAP2A COL6A3 EXTL3 CPT2 SYNE2 FDFT1 PLOD2 CRLF1 POR SRD5A3 ERCC6 PTDSS1 MYLPF PIK3C2A MAP3K20 PLOD3 WNT7A HS2ST1 PSTPIP1 ITGA7 HP_FIBULAR_APLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FIBULAR_APLASIA AMER1 FLNA GDF5 FLNB LMBR1 TBX15 RBM8A WNT7A BMPR1B HP_ABNORMALITY_OF_FIBULA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FIBULA_MORPHOLOGY PTH1R ATR ATP7A GDF5 FLNA GPX4 SLC35D1 COL11A1 LMBR1 TBX15 SMOC1 FLNB COL2A1 GLI3 CLCN5 IHH SHOX INPPL1 BMPR1B DDRGK1 EXT1 AMER1 DDR2 BHLHA9 NANS MET WNT7A SOX9 PAPPA2 TAPT1 PHEX INTU CYP27B1 ZBTB16 IFT122 AFF3 SHH VDR DYNC2H1 POR COL11A2 RBM8A AFF4 SLC34A3 FGFR3 FGFR2 CYP2R1 CANT1 EIF4A3 GPC6 BGN SF3B4 MTX2 EXT2 HP_ABNORMALITY_OF_TIBIA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_TIBIA_MORPHOLOGY SHOX ATP7A TENT5A GABRG2 GDF5 CYP2R1 LMBR1 KDELR2 NF1 LIFR SCN2A SCN9A TRAPPC2 SMOC1 DONSON FLNB CLCN5 SCN1B BMPR1B RTL1 RMRP SCN1A ACTB COL1A1 CHEK2 LMX1B SOX9 ZBTB16 STX1B ADGRV1 MBTPS2 MMP13 STXBP1 VDR NEK1 DMP1 RBM8A SLC34A3 PCYT1A GORAB GABRD COL10A1 COL2A1 EIF4A3 HPGD AIFM1 SETBP1 TGFB1 SEMA3E HYLS1 FLNA CLTCL1 COL1A2 SATB2 SLC35A2 GLI3 IHH CYP27B1 DYM TP53 EXT1 FIBP PCNT BHLHA9 HCN1 ZSWIM6 MEG3 WNT7A SLC29A3 PHEX EN1 PCDH19 INTU P3H1 SHH RB1 DYNC2H1 COL11A1 GABRA1 POR COL11A2 TCTN3 TBXAS1 CHST3 PITX1 FGFR3 SLC26A2 GPC6 FN1 ALG12 CHD7 DLK1 CYP27A1 DDX6 ENPP1 EXT2 HP_LIMITED_ELBOW_MOVEMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_ELBOW_MOVEMENT PTH1R ATR ERLIN2 LMX1B B3GAT3 LIFR GNB2 SMAD6 SLC25A46 TRAPPC2 TBX5 COL12A1 FGFR3 CAPN3 TPM3 COLEC11 SELENON SLC26A2 B3GALT6 ESCO2 FLNA FZD2 RMRP DYM SVIL MYOT GJB2 MYH3 SYNE1 KIF22 LMNA SHOX MECOM ANO5 COL6A2 IFITM5 NIPBL FBN1 FKBP10 ITCH MYL2 COL2A1 HRAS MMP13 SMC3 DDR2 KY TPM2 CHST3 TOR1A FHL1 SNRPB TMEM43 MASP1 TRPV4 PITX1 ECEL1 HOXA11 BGN EZH2 CSGALNACT1 SFRP4 MAPK1 LAMA2 RECQL4 SCARF2 PSMB8 MATN3 COMP PYCR1 SLC39A8 SLC6A9 DYSF UBA1 SF3B4 LGI4 PIGY CLCF1 NPR2 HACD1 ACTA1 NALCN EMD MAP3K7 COL6A1 SPRTN TBX15 RNU4ATAC ALDH18A1 SIK3 P4HTM ERGIC1 PCNT COLEC10 FBN2 RSPRY1 PLOD1 SMC1A STXBP1 UNC80 LARGE1 SALL4 EXOC6B MED12 SLC29A3 TFAP2A STAG1 COL6A3 TONSL EXTL3 HDAC8 CPT2 SYNE2 ATP7A FDFT1 ASXL1 PLOD2 CRLF1 POR SRD5A3 KCNK9 ERCC6 PTDSS1 FLNB B3GLCT MYLPF COL9A3 PIK3C2A MAP3K20 PLOD3 GPC6 PPP2R3C FGFR2 OPA3 PTPN11 WNT7A HS2ST1 PSTPIP1 ITGA7 HP_ABNORMALITY_OF_THE_ULNA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ULNA A2ML1 SALL4 GTF2I HDAC8 B3GALT6 COLEC10 RIT1 LMBR1 KRAS GTF2IRD1 BMPR1B RAF1 TBX3 BCOR OBSL1 NSD2 EXOC6B GDF5 DHODH CBL SLX4 CHST3 RBM8A FLNB SOS2 PRKAR1A MMP9 MASP1 NDN PLXND1 METTL27 NIPBL TBL2 SOS1 RFWD3 RECQL4 COMP FGFR2 COL10A1 ERCC4 MAP2K2 LRP4 CHD7 SHOX XRCC2 NRAS IHH MAF COLEC11 B2M PCNT BHLHA9 FGFR3 KAT6B FGFRL1 TBX22 DONSON MAGEL2 CPLX1 NCF1 FANCC RFC2 APC DNAJC30 UBE2T RRAS2 SETBP1 RAD51 POR FLNA BCL7B IFT43 COL2A1 RAD21 MAD2L2 PTPN11 BICRA CTBP1 B3GAT3 SMAD6 TBX5 RAB3GAP2 SEMA3E SLC26A2 BRCA2 CLIP2 FANCE ABHD11 MMP13 CHSY1 MECOM LETM1 ELN WNT7A FANCI EIF4H ZBTB16 LAT2 STX1A HOXA11 CCDC8 JAG1 FANCA BRAF RRAS MLXIPL FANCL BRD4 BUD23 BGN TGFB1 SCARF2 PIEZO2 LIMK1 CLDN3 SF3B4 BAZ1B XYLT1 FANCB PIGT MRAS EXT1 PDE4D RIPK4 MAP2K1 SMC3 LZTR1 B4GALT7 SNRPN SMC1A GTF2IRD2 ESCO2 MACROH2A1 RPL26 FANCF CANT1 PITX1 VPS35L FGF10 DYNC2H1 COL11A1 FKBP6 CLDN4 RASA2 AGA ANAPC1 VPS37D FANCG TWIST1 CUL7 REV3L BRCA1 TMEM270 BRIP1 FANCD2 FANCM PALB2 EXT2 RAD51C HP_PATELLAR_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATELLAR_DISLOCATION TBX1 SEC24C BAZ1B XYLT1 LMX1B COL1A1 RNU4ATAC GTF2I PRKACB COMT GTF2IRD1 JMJD1C TMTC3 CLIP2 CREBBP UFD1 ABHD11 KAT6B PKDCC FBN2 PLOD1 STXBP1 ELN EXOC6B GTF2IRD2 NOTCH2 GP1BB GDF5 EIF4H LAT2 TBX4 CANT1 ARF1 STX1A NCF1 RFC2 RYR1 FZD2 FLNB FLNA FKBP6 ARVCF RBM8A CLDN4 DNAJC30 VPS37D EBP MLXIPL NEDD4L COL5A1 BUD23 ERMARD RREB1 COL5A2 ARFGEF2 EP300 BPNT2 CHST11 TMEM270 METTL27 BCL7B TBL2 HIRA OCRL LIMK1 CLDN3 MAP1B HP_GLOMUS_JUGULAR_TUMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLOMUS_JUGULAR_TUMOR NF1 SDHC SDHAF2 SDHD SDHB HP_BREAST_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BREAST_CARCINOMA MLH1 RAD51D RNF43 PIK3CA PALB2 CDKN2A CTNNB1 BRCA2 NQO2 TP53 PTEN WRN RB1CC1 AXIN2 SLC6A17 ATM POLD1 BARD1 BRCA1 AKT1 PPM1D NTHL1 APC AAGAB PHB CDH1 RABL3 COL14A1 RAD51 IDH1 STK11 ATR PRKN XRCC3 MSH6 HMMR SDHD CASP8 FGFR2 MEFV MRE11 BRIP1 KLLN OPCML NF1 SDHC RAD51C MSH2 SDHB RAD54L CHEK2 SEC23B NBN SMAD4 GNAS PALLD RAD50 POLE ESR1 SLC22A18 IDH2 KRAS MDM2 USF3 TWIST1 ERBB2 HP_COLON_CANCER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLON_CANCER MLH1 SH3KBP1 APC GREM1 PMS1 TP53 MSH2 BUB3 CDKN2A BUB1B BRCA2 BUB1 SMAD7 CHEK2 AXIN2 CEP57 KRAS DMPK SMAD4 BMPR1A FAN1 PALLD MUTYH PMS2 RABL3 BRCA1 MSH6 RPS19 PIK3CA TGFBR2 PRKAR1A NTHL1 FOXE1 TRIP13 MLH3 FLCN MSH3 EPCAM MINPP1 MDM2 HABP2 PALB2 HP_GANGLIONEUROMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GANGLIONEUROMA KIF1B PHOX2B RET MYO1H BDNF EDN3 GDNF ASCL1 HP_PROLONGED_BLEEDING_TIME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_BLEEDING_TIME GATA1 TP53 ITGA2B COL1A1 F2 GP1BB RIN2 RASGRP2 WIPF1 MAP2K2 WAS SH2B3 NBEAL2 CD36 BMS1 GP6 NF1 HPS5 ADAMTS2 VWF GFI1B F5 RUNX1 HPS1 GP1BA ITGB3 AP3B1 ITGB4 MYH9 TEK DLL4 SLC35A1 COL5A1 AGGF1 ADAMTSL2 MPL TET2 COL5A2 CALR GATA2 HPS6 JAK2 PLEC GP9 HP_FLARED_METAPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLARED_METAPHYSIS FGFR3 TRPV4 NPR2 TCIRG1 B3GAT3 LIFR FIG4 GJA1 ALG9 B3GALT6 DDRGK1 PCNT DDR2 NANS VAC14 B4GALT7 PEX7 EXOC6B TAPT1 SH3PXD2B PCYT1A TONSL LBR XYLT1 RUNX2 ERCC1 MMP13 COMP CHST3 COL11A2 CYP3A4 PTDSS1 COL2A1 RMRP COG4 PTH1R EED EZH2 KIF22 FAM111A OSTM1 SLC39A13 COL10A1 FLNA HP_METAPHYSEAL_WIDENING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAPHYSEAL_WIDENING SLC35D1 B3GALT6 B3GAT3 SRP54 LIFR CCN6 FGFR3 GJA1 MMP13 SLC26A2 TRIP11 INPPL1 DDRGK1 ALG9 SBDS CSF1R ANKH EFL1 XYLT1 CTNS MMP9 ACVR1 GALNS CHST3 ABCC9 COL11A2 PCYT1A COG4 PITX1 CANT1 PTH1R AIFM1 EED EZH2 LRP5 OSTM1 SFRP4 SLC39A13 COL2A1 MATN3 COMP COL10A1 COL11A1 ACAN DNAJC21 FLNA TRPV4 NSMCE2 NPR2 GLB1 TCIRG1 FIG4 GNPTAB MAP3K7 DYM VPS33A PLCB3 EXT1 PCNT WDR19 ARCN1 DDR2 NANS VAC14 B4GALT7 ACP5 ARSB PEX7 EXOC6B TAPT1 ATP7A SH3PXD2B TONSL HSPG2 BMPR1B SKI LBR RUNX2 ERCC1 DYNC2H1 CYP3A4 PTDSS1 PHEX RMRP MMP2 KIF22 FAM111A EXT2 HP_ABNORMALITY_OF_THE_WRIST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_WRIST SHOX ATP7A ERLIN2 HOXA13 SALL4 RTL1 LONP1 GDF5 LMBR1 TRAPPC2 CLCN5 TRIP11 BMPR1B DYNC2LI1 ESCO2 DYM TPM2 COL2A1 EXOC6B PIGV B3GALT6 NOG MATN3 MYH3 EXTL3 GALNS TNNT3 DMP1 FLNB FBLN1 OCRL NIN PITX1 MECP2 CYP2R1 PTH1R PAX3 NXN GPC4 MAFB RECQL4 GJA1 XYLT1 COMP MAP3K7 TRPV4 FLNA RAC3 AKT1 CANT1 GLB1 FGFR2 TBX15 SLC34A2 ANKRD55 IHH CYP27B1 HSPG2 PTEN ERGIC1 SLC10A7 RSPRY1 NANS ROR2 MEG3 GPC3 ZMPSTE24 LMNA ASXL1 UFSP2 COL12A1 APC MYLPF EBP AEBP1 MMP2 NOTCH2 PSMD12 RBM8A OPA3 LRP4 EVC2 CD247 ENPP1 ADAMTSL2 PRG4 COLQ GNPTAB SMOC1 TBX5 CAPN3 GNE EVC POR SLC35D1 PIEZO2 KIF22 IL2RB IL2RA EIF2AK3 ANO5 COL7A1 GLI1 MYH7 PTPN22 VDR DDR2 HOXD13 SLC34A3 FGFR3 TNNI2 BPTF BGN CHSY1 NALCN SETD2 DHX16 DLK1 XRCC2 MMP14 PTPN2 ABCC6 ALDH18A1 TBX3 CCN6 EXT1 FBN2 BHLHA9 ALG12 COL6A3 MACROH2A1 STAT4 AIFM1 KIDINS220 TUBB3 CHST3 MBTPS1 RMRP LAMB2 ASAH1 COL6A2 SHH WNT7A TONSL COL6A1 EXT2 HP_ENLARGEMENT_OF_THE_WRISTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGEMENT_OF_THE_WRISTS DMP1 CYP2R1 SLC34A3 CLCN5 CYP27B1 AIFM1 VDR ENPP1 HP_METAPHYSEAL_CUPPING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAPHYSEAL_CUPPING LBR COL10A1 COL2A1 MMP13 GPX4 RMRP AIFM1 PEX5 NEPRO PAM16 CYP3A4 PTH1R HDAC6 INPPL1 TRIP11 ALPL COL11A2 PCYT1A HP_METAPHYSEAL_IRREGULARITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAPHYSEAL_IRREGULARITY DYM PTH1R FGFR3 CYP2R1 TRPV4 GPX4 SRP54 IARS2 CLCN5 CYP27B1 DDRGK1 SIK3 SLC17A5 RSPRY1 RMRP NANS SLC35D1 SBDS ACP5 KIF22 ARSB CSPP1 EXOC6B PHEX PCYT1A TONSL FN1 QRICH1 MATN3 EFL1 RAB33B MMP9 NKX3-2 COMP DNAJC21 KIAA0586 CASR VDR PEX5 MMP13 COL2A1 SLC34A3 CFAP410 BGN LPIN2 COL10A1 RPL13 HP_SHORT_LONG_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_LONG_BONE SHOX ATR SMARCA2 LMBR1 HOXA13 SALL4 TRPS1 SLC35D1 LONP1 MAFB FGFR2 AGPS POLR3A PTHLH TRIP11 FANCB INPPL1 AMMECR1 RTL1 DDRGK1 DYM GNAS TBX3 COL2A1 ALG9 SF3B4 OBSL1 MET EXOC6B GDF5 GLB1 SOX9 SMOC1 RAB33B DHODH TBX4 SLX4 FZD2 PRKAR1A KIAA0753 FLNB COG4 FGFR3 COL11A2 PTH1R GNPAT EZH2 RFWD3 RECQL4 XYLT1 COMP COL10A1 RPL13 COL11A1 ERCC4 LRP4 CHD7 XRCC2 COG1 SALL1 MAP3K7 SLC35A2 GLI3 IHH DYNC2I2 SUCLG1 FAT4 PLCB3 AMER1 SLC10A7 B2M RSPRY1 BHLHA9 GHR RMRP FGFR1 NEK1 PIGS MEG3 BMPR1B SH3PXD2B RBM10 DONSON INTU WDR35 IFT122 AFF3 SHH DCHS1 HOXD13 ATP7A FANCC TCTN3 APC UBE2T SLC26A2 HINT1 RIPK4 RAD51 HDAC4 PDE4D FN1 ALG12 PRMT7 KCNJ2 FLNA EVC2 IFT52 CHN1 POC1A MAD2L2 CCNQ ADAMTSL2 LIFR FANCI SMAD4 TBX5 SEMA3E ZIC3 BRCA2 FANCE PIK3CD FANCF SCUBE3 SIL1 GSC DYNC2LI1 NADSYN1 HEPHL1 WNT7A NIPBL ZBTB16 PHYH VPS13B IFT172 GNPTAB CCDC8 JAG1 FANCA ROR2 AFF4 PEX7 B3GALT6 SNRPB PORCN FANCL CANT1 FBN1 EIF4A3 BGN CHSY1 EVC SCARF2 MATN3 HYLS1 FGF10 NPR2 MYSM1 TCF4 GPX4 TRPV4 RBPJ TTC21B PIGT TBX15 RNU4ATAC HSPG2 EXT1 NOG DDR2 PUF60 DYNC2I1 TAPT1 ESCO2 PCYT1A TONSL RPL26 RPS19 VPS35L LZTFL1 DYNC2H1 PEX5 PAM16 CHST3 B3GLCT SRY KNSTRN FANCG RAD51C CUL7 GPC6 BRCA1 BRIP1 FANCD2 DLK1 IFT81 FANCM PALB2 EXT2 HP_MESOMELIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MESOMELIA NXN LBR GLI3 NGLY1 NPR2 WDR35 CREB3L1 AFF3 WNT5A NEK1 TBX15 KIF15 DVL1 TRIP11 FGFR3 GDF5 SHOX RAC1 RMRP ROR2 SIK3 GPC6 IFT80 EIF4A3 DVL3 DHCR7 ESCO2 PTH1R ACAN TONSL DONSON FLNA HP_ABNORMALITY_OF_THE_ANKLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ANKLES FA2H CYP2R1 ERLIN2 GTF2I NT5C2 LIFR RYR1 SCN9A RAB3GAP2 ADGRG1 COL12A1 GTF2IRD1 CAPN3 TPM3 RTN2 ATP6AP2 KIF5A PSAT1 GBA2 CLCN5 CLIP2 SPAST TIMM8A ESCO2 FLNA DYRK1A SELENOI ABHD11 MFN2 ANKRD55 SCN1A SAMD9L DYM PTPN2 SVIL CAPN1 NTRK1 NSD1 ELN IL2RB IL2RA ANO5 RTTN SLC39A14 GDF5 EIF4H OCA2 FKBP10 MYH7 SCN2A MYL2 STX1B LAT2 ADGRV1 C19orf12 COL9A2 COL6A2 STX1A PTPN22 KIF1A MAN2B1 RAB18 VDR DDR2 GABRG2 NOG UBE3A SLC34A3 ZFYVE27 SETD2 APC2 BPTF GABRD COL10A1 SPART BUD23 RETREG1 GJC2 DAG1 HTT METTL27 TBL2 MAFB SPG11 LIMK1 CLDN3 PYCR2 COL6A1 UBA1 REEP1 SH3TC2 LGI4 BAZ1B SPTBN4 HACD1 COL9A3 TOR1AIP1 CHMP1A ACTA1 MAP3K7 CARS1 SLC16A2 SLC52A3 GALC GLI3 PIGT NIPA1 CYP27B1 KLHL9 EXT1 VEGFC ERGIC1 COL9A1 CYP7B1 HCN1 ZMPSTE24 PNPT1 GFM2 SELENON SOD1 ALAD GTF2IRD2 ABCD1 STUB1 LMNA COL6A3 STAT4 NONO RPL10 TPM2 ATL1 NCF1 COMP POU3F4 DPM1 CD247 RFC2 NEB FKBP6 SYNE1 CLDN4 FGF13 DNAJC30 UCHL1 VPS37D MLXIPL MAP3K20 FLT4 MMP2 TMEM270 PSMD12 SCN1B BCL7B PSAP FIG4 WNK1 ANO10 EXT2 ITGA7 HP_ENLARGEMENT_OF_THE_ANKLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGEMENT_OF_THE_ANKLES CYP2R1 SLC34A3 CLCN5 CYP27B1 VDR MYH7 HP_ULNAR_BOWING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ULNAR_BOWING PCNT RIPK4 MMP13 HOXA11 VPS35L COL11A1 POR FLNA RECQL4 FGFR2 SCARF2 SLC26A2 CHST3 IFT43 SHOX HP_DIAPHYSEAL_SCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIAPHYSEAL_SCLEROSIS SOST ANO5 MTAP GNAS TGFB1 CA2 TNFSF11 STX16 HP_ENLARGED_JOINTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_JOINTS SRCAP TRPV4 COL11A2 MATN3 COL2A1 LIFR KAT6A CCN6 CHST3 HOXD13 KIF7 HP_FIBULAR_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FIBULAR_HYPOPLASIA ZBTB16 PTH1R ATR IFT122 AFF3 GDF5 SLC35D1 COL11A1 DYNC2H1 BMPR1B SMOC1 AFF4 SHOX INPPL1 AMER1 EIF4A3 BHLHA9 GPC6 FLNA MET SOX9 SF3B4 INTU HP_ARTHROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTHROPATHY PIK3CD SAMHD1 IL10 HFE PRG4 SLC22A4 MMP14 BMP2 NTRK1 NFKBIL1 CCN6 HGD DMP1 F8 TRPV4 PTPN22 ATL1 ALPL HPGD CHST3 NLRP1 HJV NOD2 SPTLC2 NLRP3 MEFV COL2A1 ELP1 COL11A1 SPTLC1 CD244 CIITA TNFAIP3 IL6ST TNFRSF1A STAT3 ATL3 HAMP ANKH MMP2 IL36RN ENPP1 HP_HUMERORADIAL_SYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HUMERORADIAL_SYNOSTOSIS CYP26B1 GDF5 POR FGFR2 DONSON WNT7A PTDSS1 FGF9 FGFR1 NOG TBX15 HP_ABNORMAL_SHOULDER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SHOULDER_MORPHOLOGY PALS1 JARID2 ATP7A MYT1L KMT2E TMEM251 LMX1B COL1A1 CCDC32 GTF2I ENPP1 B3GAT3 GNB2 BCOR EYA1 MEOX1 TRAPPC2 SUFU COL12A1 GTF2IRD1 TRPV4 PAX1 ZMIZ1 SEMA3E CLIP2 GDF6 ORC1 RTL1 WASF1 ABHD11 NTNG1 PRNP DYM EFNB1 GSC MYH3 ELN WDFY3 IL2RB OTUD6B IL2RA TRMT10A RUNX2 AEBP1 EIF4H LAT2 ARF1 STX1A PTPN22 KY TRIP12 CHST3 SLC12A2 SVBP TANC2 MED27 TBX5 GRIA4 COL5A1 MLXIPL BUD23 ARFGEF2 CNOT3 ACTL6B METTL27 KCNMA1 TBL2 SCARF2 LIMK1 TCF20 CLDN3 CHD7 CUL4B PTCH2 LGI4 PTPN2 BAZ1B NGLY1 ABCC6 IRX5 HUWE1 KAT8 DPYSL5 HS2ST1 PPP1R15B PIEZO2 BPTF SPRTN ANKRD55 PUS7 DDX6 PTPN23 TMTC3 CCN6 MED13 RNU4ATAC HSPG2 UBR7 HHAT COL1A2 GDF3 NTNG2 NAA10 MEG3 GTF2IRD2 DOCK3 STAT4 RLIM LMNA NCF1 ACTL6A RFC2 MAPK8IP3 FLNA HPDL FKBP6 TNNT1 CLDN4 DNAJC30 HTT VPS37D MYLPF BCORL1 NEDD4L KDM4B TNRC6B ERMARD PSMD12 COL5A2 TRMT1 TMEM270 TRAPPC4 BCL7B RBM8A SATB1 FBXW11 AGO2 DLK1 PTCH1 MAP1B CD247 MADD HP_SHOULDER_FLEXION_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHOULDER_FLEXION_CONTRACTURE COL12A1 MYLPF TNNT1 RNU4ATAC HSPG2 KY MYH3 HP_ABNORMAL_PATELLA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PATELLA_MORPHOLOGY SEC24C RECQL4 LMX1B COL1A1 GTF2I PRKACB COMT GMNN COL12A1 GTF2IRD1 SLC26A2 JMJD1C CLIP2 ORC1 ABHD11 CDC45 RAB23 ORC4 ELN EXOC6B NOTCH2 UBR7 WNT7A GDF5 EIF4H LAT2 TBX4 ARF1 COL9A2 STX1A CDT1 RYR1 FZD2 CREBBP RBM8A TBC1D7 COL5A1 COL2A1 BUD23 ARFGEF2 BPNT2 METTL27 TBL2 HIRA CDC6 ARID1B LIMK1 EP300 CLDN3 SHOX MIR140 TBX1 BAZ1B XYLT1 RNU4ATAC COL9A3 LMBR1 TMTC3 UFD1 KAT6B PKDCC COL9A1 FBN2 PLOD1 BHLHA9 STXBP1 ZSWIM6 USP9X GTF2IRD2 GP1BB ESCO2 FKBP10 DONSON YY1 CANT1 NCF1 RFC2 FLNB CHRNG FLNA FKBP6 ARVCF CLDN4 DNAJC30 PITX1 ANAPC1 VPS37D EBP MLXIPL NEDD4L ERMARD RREB1 COL5A2 CHST11 PRMT7 TMEM270 ORC6 NLRP3 KIF22 BCL7B OCRL MAP1B HP_ULNAR_DEVIATION_OF_THE_WRIST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ULNAR_DEVIATION_OF_THE_WRIST RAC3 TNNT3 TPM2 GLB1 GALNS FLNB ASXL1 NALCN TNNI2 POR MEG3 KIDINS220 MYH3 DLK1 COMP ALG12 RTL1 PAX3 HP_ENLARGED_METAPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_METAPHYSES COL2A1 B3GAT3 RPL13 RNU4ATAC CHST3 EXTL3 TRAPPC2 HP_ABNORMALITY_OF_THE_RADIOULNAR_JOINTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_RADIOULNAR_JOINTS AEBP1 EXOC6B CANT1 TRPV4 B3GALT6 POR HP_ABNORMALITY_OF_THE_HUMERUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_HUMERUS RSPO2 ATP7A TMEM251 MYSM1 LONP1 TRPV4 GDF5 LMBR1 AGPS POLR3A FGFR2 GNPTAB TBX5 DONSON FGFR1 IHH DYM ZIC3 TBX3 FANCB TBX15 RNU4ATAC POR FZD2 SUCLG1 CYP26B1 SALL4 NOG GPC6 GSC WNT7A SHOX GNAS TONSL MACROH2A1 IFT122 PITX1 FLNB PEX5 STX16 RBM8A PTDSS1 FGF9 SNRPB KIAA0753 SLC26A2 SRCAP COL2A1 GNPAT ALG12 EZH2 TGFB1 RECQL4 FLNA HP_PATELLAR_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATELLAR_HYPOPLASIA RECQL4 TBX4 LMX1B STXBP1 PRMT7 ZSWIM6 PITX1 ANAPC1 UBR7 HP_LIMITED_KNEE_EXTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_KNEE_EXTENSION GABRG2 STX1B ADGRV1 ATP7A STXBP1 GABRA1 SCN2A SCN9A COL9A3 SCN1B GABRD SCN1A DYM FBN2 GPC6 EZH2 DPYSL5 CSGALNACT1 HCN1 PCDH19 HP_ELBOW_ANKYLOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELBOW_ANKYLOSIS PTDSS1 FGFR2 MUSK POR FGFR1 NOG GDF5 WNT7A HP_FLATTENED_EPIPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLATTENED_EPIPHYSIS MIR140 RAB33B COL2A1 TBX4 TRPS1 IFT122 MMP13 COL9A1 TRPV4 CCN6 GNPTG SLC26A2 CHST3 SLC10A7 CANT1 SLC39A13 PTH1R COL9A2 AIFM1 UFSP2 KIF22 EIF2AK3 TONSL ACAN HP_HYPERCALCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERCALCEMIA GCM2 BAZ1B CDC73 SDHD MEN1 SDHC GTF2I SLC12A1 GTF2IRD1 CLIP2 ELN TRIO TMEM127 CCND1 ABHD11 CDKN2B VHL PIK3C2A NOTCH3 CDKN1B DLST RET MAX PIGT NSD1 PTH1R AP2S1 GTF2IRD2 CYP24A1 EIF4H HLA-DRB1 KL CASR LDHA EPAS1 SDHA LAT2 FH STX1A NCF1 CDKN2C SDHB RFC2 FKBP6 BTNL2 CLDN4 CDKN1A DNAJC30 VPS37D PDGFRB SETD2 DNMT3A SLC25A11 MLXIPL APC2 SLC34A1 KIF1B SDHAF2 BUD23 TMEM270 METTL27 BCL7B CDKN1C TBL2 LIMK1 CLDN3 ALPL NF1 GNA11 SLC5A1 MDH2 HP_HYPERGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERGLYCEMIA GYS2 GABRA3 KLF11 SLC2A2 ARMC5 BLK HNF1A APPL1 LMNA PLAGL1 GLI3 PDX1 INS KCNJ18 ZFP57 SCN4A PIK3R1 PAX4 HYMAI KCNJ11 GCK ABCC8 BBS9 INSR ZMPSTE24 HFE CEL CACNA1S NEUROD1 LRPPRC SHPK RIMS2 HNF4A KCNE3 AFF4 PPARG STAT3 GATA6 PTF1A RFX6 ITPR3 IL6 PTPN22 ACAT1 HP_HYPOPROTEINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPROTEINEMIA SLC25A13 B2M RAG2 TMPRSS15 RAG1 PRF1 NOS1AP ACADVL CD55 DPAGT1 LYST NPHS1 LAMB2 DCLRE1C ALB UBR1 HP_GLYCOSURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLYCOSURIA ETFDH NSMCE2 HNF4A SLC34A1 KLF11 SLC2A2 EHHADH CTNS BLK APPL1 ATP7B GATM LMNA NDUFAF6 PDX1 COA8 FAN1 PAX4 INS HNF1B KCNJ11 ABCC8 HNF1A ETFB GCK SLC5A2 GYS2 SURF1 MT-TN CEL MT-TS1 CLCN5 NEUROD1 SLC16A12 STAT3 GATA6 ETFA SLC5A1 PIGA ALDOB HP_HYPERLIPIDEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERLIPIDEMIA CFHR1 PHKG2 PLIN1 XIAP PPARG LCAT SLC2A2 CFH CREB3L3 LRP6 APOC3 POLR3A PNPLA2 LMNA NSMCE2 RAI1 DEAF1 SLC37A4 FECH MC4R ALB ZMPSTE24 BSCL2 UNC13D TTPA LPL FOS ABHD5 FLII PHKA2 SLC25A13 MCM10 AGL CPT2 PRF1 PIGT APOB SYNE1 SLC29A3 LIPE PIGH LEP RSPO1 POLD1 LEPR LIPC GYS2 CAVIN1 PCSK9 NPHS2 DAAM2 AGPAT2 PSMB10 CIDEC STXBP2 SGPL1 LIPA JAG1 ABCG5 LMAN1 NPHS1 MCFD2 LDLRAP1 SMARCAL1 TMEM43 PSMB9 DGAT1 APOE MTX2 DCAF17 CYP19A1 CEP19 LMF1 CFHR3 CPT1A APOA5 PSMB8 IQSEC2 APOC2 CYP7A1 GLA CAV1 ALMS1 STX11 LYST FARSA LDLR SMPD1 HAVCR2 FHL1 PYGL MYO5A YARS1 ADCY3 XRCC4 TFG SYNE2 SLC7A7 ABCA1 AKT2 GPD1 ACTN4 PSMB4 GK AEBP1 ABCG8 G6PC1 CETP RAB27A PLVAP EMD HP_DEFECTIVE_DNA_REPAIR_AFTER_ULTRAVIOLET_RADIATION_DAMAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEFECTIVE_DNA_REPAIR_AFTER_ULTRAVIOLET_RADIATION_DAMAGE ERCC4 TARS1 ERCC2 ERCC3 RNF113A DDB2 ERCC6 GTF2H5 XPC ERCC5 MPLKIP XPA GTF2E2 HP_HYDROXYPROLINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYDROXYPROLINURIA SLC6A19 TNFRSF11B SLC6A20 PRODH SLC6A18 PLOD2 SLC36A2 ALDH4A1 TNFRSF11A HP_INCREASED_URINARY_POTASSIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_URINARY_POTASSIUM CLCNKB BSND CLCNKA KCNJ1 SLC12A1 GATM NDUFAF6 EHHADH SLC34A1 HP_FRACTURES_OF_THE_LONG_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRACTURES_OF_THE_LONG_BONES TENT5A MTAP SQSTM1 TAPT1 KDELR2 MBTPS2 TBCD CLCN7 TNFRSF11A HP_ACROMESOMELIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACROMESOMELIA KIF15 NGLY1 NPR2 GDF5 RAC1 HP_PREMATURE_OSTEOARTHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_OSTEOARTHRITIS KIF22 MATN3 COL11A2 FBN1 SLC26A2 COL1A1 TRPV4 DDRGK1 TRAPPC2 HP_HAMSTRING_CONTRACTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAMSTRING_CONTRACTURES CAPN3 SELENON ANO5 ACTA1 ABCD1 OPA1 HP_LIMITED_HIP_EXTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_HIP_EXTENSION DST CHST3 COMP FGFR3 KY HP_SEPTIC_ARTHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEPTIC_ARTHRITIS C2orf69 BTK MYD88 NTRK1 MTHFD1 HP_SHORT_FEMUR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_FEMUR ZBTB16 COL2A1 TBX4 FLNB BHLHA9 ALG12 AGPS POLR3A PUF60 SALL4 TAPT1 IHH GDF5 COL11A1 AMMECR1 FGFR3 TBX15 SLC26A2 RNU4ATAC SUCLG1 HP_SLENDER_LONG_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLENDER_LONG_BONE TENT5A MUSK NSMCE2 KDELR2 B3GALT6 LARP7 FIG4 OBSL1 PIGU RAB3GAP2 CDC6 ATP6V0A2 COL1A2 SON ORC1 MAFB NFIX PCNT RSPRY1 ORC4 BRF1 VAC14 HARS1 PIGT CDT1 CUL7 ITCH P3H1 ERCC1 MBTPS2 TBCE FDFT1 CCDC8 COL1A1 GMNN MGAT2 KCNJ2 ORC6 FAM111A GLE1 PDGFRB SCARF2 CDC45 HP_ABNORMAL_CORTICAL_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CORTICAL_BONE_MORPHOLOGY PTH1R TENT5A NF1 LRP5 PTDSS1 STIL CYP2R1 FARSB KDELR2 FAM111A LIFR FLNA SLCO2A1 CEP152 TRPV4 CLCN5 CYP27B1 KNL1 TGFB1 SASS6 TRAPPC14 TAF13 COPB2 ANKLE2 ASPM ADAMTS10 CLCN7 MFSD2A LRP4 SH3PXD2B COL1A1 TCIRG1 PEX19 PHC1 SOST CENPJ METTL5 CEP135 PYCR2 MBTPS2 NSDHL HPGD MAN2B1 VDR TRIM37 DMP1 CIT SCN9A AGA SLC34A3 TBXAS1 KIF1A LEMD3 AKT1 NCAPD3 FBN1 RETREG1 PLEKHM1 SETBP1 KIF14 GLE1 MCPH1 CEP63 TBCE CDK5RAP2 WDR62 GJA1 TNFRSF11A WNK1 ENPP1 ANO5 CDK6 HP_ABNORMAL_CIRCULATING_CHOLESTEROL_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_CHOLESTEROL_CONCENTRATION LCAT SAR1B ABCA1 CYP11A1 GALK1 CREB3L3 NUP107 LRP6 APOC3 RAI1 DEAF1 ALB ABCG8 EBP TTPA CYP27A1 DMPK ATP6AP1 LPL FOS FLII PHKA2 CCT5 SLC25A13 UBR1 APOB PEX12 SYNE1 DLK1 LMNA APOA2 RSPO1 LIPC NSDHL DHCR24 PANK2 CAV3 CAVIN1 PCSK9 ABCA2 GHR DAAM2 AGPAT2 SETX APOA1 TMEM199 LIPA JAG1 ATAD3A ABCG5 ABCB4 HSD3B7 DHCR7 LDLRAP1 EPHX2 TMEM43 OCRL MSMO1 CCDC115 TSHB DGAT1 SC5D APOE MTX2 CEP19 APOA5 RTL1 PSMB8 GPIHBP1 IQSEC2 TDP1 APOC2 DYRK1B BSCL2 ALG6 CYP7A1 CAV1 NGLY1 PHKG2 ALMS1 CETP UBE3B MTTP LDLR SMPD1 FHL1 GALNT2 PPP1R17 SLC37A4 PYGL SLC2A3 ALG12 ANGPTL3 MEG3 LBR PIK3R5 SYNE2 COG4 PMM2 APTX FDFT1 SLC7A7 HTT PSAP PPARG NPC2 FLCN TBL1X EMD MEF2A HP_HYPERPHOSPHATURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPHOSPHATURIA MT-TN CDC73 MEN1 ABCC6 CTNS MT-TS1 ENPP1 CLCN5 NRAS SLC2A2 EHHADH CASR DMP1 FGF23 ATP7B HNF4A OCRL GCM2 COA8 SLC9A3R1 HRAS SLC34A3 SLC34A1 GNAS PTH1R ALDOB SURF1 KRAS HP_ABNORMALITY_OF_URINE_HOMEOSTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_URINE_HOMEOSTASIS SARDH SDHD NRAS ENG PRODH SLC7A9 NUP107 ADCY10 AGK CLCN5 PTPN22 MT-ND6 MUC1 STX16 MMADHC AGXT CDKN2B GNAS MT-TK KCNJ11 TP53 ITGA6 CYP11B2 TK2 AVPR2 SERPINF2 AQP2 IER3IP1 MT-TS2 PUS3 AGA LMAN1 MT-ND1 KLF6 HGD TREX1 ERCC8 SLITRK6 MT-ND4 DNAJB11 ABCC8 BCOR INS SLC2A9 KANK2 BCS1L ACVRL1 TNFRSF11A HMGCL SLC34A1 PTPRO MIR140 TMEM70 MT-ND2 NGLY1 SDHC PHKG2 PSTPIP1 MCCC2 ASL ACADS DMD CYP27B1 MANBA MAGI2 FBP1 PIGA MMAB SGCB SUCLG1 PDX1 LMX1B SHH PEX5 WDR19 ATP6V0A4 CPOX RET CUBN ALDH5A1 NAGA STAR ATPAF2 ARSB SMAD4 PHEX TRPC6 ITGB4 MAX SLC7A7 OSGEP NCF1 MRAP ERCC4 THBD ACAD9 TGFB1 PCCA MT-TE INF2 GUSB PPOX UROD PIK3C2A ITGA8 MT-TW AMMECR1 ANLN WT1 COL4A3 PRPS1 OTC POU6F2 CLCNKA DNAJC19 GNS HLA-DRB1 SMARCA2 SLC6A20 BCL7B MTRR PML GCDH SLC5A1 MDH2 AMN HNF4A CPS1 SNAP29 SLC25A20 CYP11A1 PREPL PIGB MT-ND5 CPT2 FLT1 NEU1 HLCS SUOX NPHS1 OCRL FAH SCNN1A LDHA FUCA1 CDKN1B GP1BA MUTYH ELN SLC25A1 GCK ANO5 IL17RC SERAC1 TANGO2 EIF4H PAX2 NUP133 LPIN1 CEL NPHS2 HPRT1 MPC1 PCK1 TRIP13 ITGB3 CASR SLC34A3 FGFR1 PIGT SCARB2 IDUA MEFV KIF1B NOS3 BUD23 SUGCT HADH FN1 DGUOK LPIN2 GLI2 CLDN3 PMM2 NUP205 BLVRA TIMM50 GATM NUP93 KRAS TBC1D8B PHKA1 HNF1B IDH2 GCM2 CDC73 FAN1 GP1BB DISP1 HNF1A ETFB PLCE1 SLC25A4 D2HGDH MT-TF PDSS2 PRKAR1A FH CDKN2C SLCO1B1 PLOD2 SLC36A2 ATP1A1 UNC45A CDKN1A MTHFR PET100 CFI HFE G6PC1 TMEM270 SLC6A19 SLC5A2 CD320 OPA3 GAA OGDH SUCLA2 PNP NF1 NDUFS4 ITGA2B NPHP1 OXCT1 KCNJ1 RYR1 STAT2 SLC37A4 PEX1 PYGM KCNJ18 COA8 SLC25A13 CLDN19 PIEZO1 VHL GUCY2D OPLAH CYP11B1 APOE IDS NOTCH2 YAP1 PGK1 STAT4 GLA GLYCTK FTCD ZIC2 KRT8 HADHA TPRKB TMEM127 MCFD2 GBA CFHR5 L2HGDH FOXC2 RARA GCSH NUP85 SCO1 METTL27 CBS SIX3 MAFB MAGED2 SLC16A1 AUH DLD ALDH4A1 PHOX2B MEN1 TSC1 ACP5 SLC34A2 MARS1 FLAD1 HMBS MT-CO1 NADK2 POLG UMPS XPA CFTR MVK TAFAZZIN SPRY2 DPYD PYGL RFC2 XPC LAGE3 CASP10 SLC3A1 IL17F DDB2 TNFRSF11B GLUD1 HRAS NUMA1 FGA INPPL1 HADHB ALDOB CFHR2 ENPP1 MYO1E PRTN3 SLC2A2 CLCNKB MMAA MT-TL1 TCN2 ITGA3 CLIP2 SMARCAL1 GCLC HOGA1 COQ2 RMRP KCNE5 ABHD11 PKD1 BSND MMACHC GSS PFKM APOL1 LMBRD1 NNT MT-CO2 CAMKMT MT-TN RRM2B MBTPS2 F8 STX1A CRB2 CORIN BTNL2 MOCS2 F2 AASS GALK1 STAT3 ALPL KRT18 FGF23 OFD1 ERCC6 SPP1 GNA11 COQ6 MCEE WDR73 NDUFB10 KLF11 HACE1 SLC25A15 FXYD2 MT-CO3 CTNS ATAD3A PKD2 GNPTAB BICC1 APPL1 VPS33A COL4A1 MAF IRF1 ERCC3 ERBB2 UROS BCKDHA REST PTH1R FGF8 PCCB AP2S1 SGSH GTF2IRD2 ALDOA CLTRN B2M SDHA GRHPR HAL VPS37D ARHGAP24 PCBD1 ACSF3 KCNJ10 MCCC1 HPD GTF2I NT5C3A HLA-DPA1 SLC12A1 ATP7B LMNA NDUFAF6 TAT UROC1 KIRREL1 TOP2A CLPB GEMIN4 FIP1L1 SPTBN1 GALNS MAN2B1 P4HA2 SGPL1 TRIM28 DMP1 INSR SDHB SUMF1 SLC52A1 COL4A4 ISCU TBL2 ALK CLEC7A GABRA3 WDR4 ARG1 BCKDHB MIA3 SAA1 ACADVL COX16 OAT CACNA1S FCGR2A PEPD CFH MLYCD APRT GATA3 ACADM SLC26A1 GNAS-AS1 COL4A5 DNAJC30 GSN TP53RK DNMT3A LCAT SLC9A3R1 ITGA2 CNNM2 ARHGDIA CYP2R1 STK11 PET117 CA5A LMNB2 F5 SREBF1 GPHN ACTN4 ERCC5 DHTKD1 DBH PHKA2 EGF G6PD TRAF3IP2 NIPBL GYS2 ETHE1 SLC35A1 DAAM2 CD2AP ZBTB16 COQ8B SLC22A12 ZAP70 IRAK1 FMO3 CASK STIL CRPPA APOA1 KCNJ5 PLOD1 SCNN1G ETFDH TBC1D24 ABCD4 ABCC6 TSC2 LRP2 HSD11B2 MICOS13 ABCC2 HSD17B10 EHHADH LIN28B STAT5B GP9 NFS1 ALG9 EPAS1 SLC52A2 DMGDH MT-TQ TRPV6 SARS2 SLC25A11 PDP1 ANKFY1 PRDX1 SDHAF2 CTLA4 PAH F10 FGFR2 BTD HMOX1 CTH TENT5A KHK CFHR3 MT-TS1 NOS1AP RPIA GTF2IRD1 NUP37 SPINK5 ATP5F1D COX14 FARS2 IVD ASS1 NUP160 HGSNAT LAMB2 GLB1 LYZ ALAD MT-ND3 FKRP HIBCH HELLPAR NABP1 TRNT1 SLC16A12 DNASE1L3 LDHD GALE SNX14 CD109 NAGLU GATA6 ETFA ACSL4 GLDC GANAB MT-TH PIK3CA PGAM2 ATP6V1B2 NSMCE2 KARS1 SLC25A21 SLCO1B3 C3 BLK GAPVD1 SLC12A3 PAX4 GATA1 MC2R TBL1XR1 DLST COL4A6 CLDN10 CYP21A2 TKT GALT IFT122 CD46 HLA-DPB1 ERCC2 IL17RA COL2A1 MOCS1 DDOST GDF2 HSD3B2 GK SCNN1B SLC6A18 MRPS2 EMP2 CHUK IRF2BP2 KDELR2 HBB ACAD8 AMT TTC37 HCFC1 SH2B1 LMO1 CLDN16 MT-ATP6 CYP24A1 CD59 TXNRD2 APC LAT2 NEUROD1 STOX1 AGGF1 ATP5F1E MLXIPL CD81 SLC1A1 HLA-B HTRA2 NPM1 LIMK1 SLC19A2 MTX2 BAZ1B ASPA SLC25A19 DGKE PPM1B XDH ADAMTS13 MYCN NR0B1 FAM20A H19 KCNJ16 SURF1 FKBP6 MYH9 CLDN4 DIS3L2 MT-TV DCXR CFB MMUT GPC3 CDKN1C ACAT1 BRCA2 DBT MTR KYNU HP_ABNORMAL_BLOOD_ION_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_ION_CONCENTRATION GCM2 SCN5A SDHD GTF2I NRAS SIX3 HBB SLC12A1 ATP7B GNA11 CLCN5 FGFR1 NDUFAF6 STX16 CDKN2B VHL GNAS LAMB3 COL4A3 TP53 TNFRSF11A CYP11B2 PKHD1 CARD9 SMAD4 STEAP3 AVPR2 HMBS ZIC2 AQP2 HFE FAM20C CTNS GALNT3 DMP1 PRKAR1A INSR BMPR1A SDHB SKIV2L FAM111A SCNN1B SCN4A CACNA1S TBL2 SLC34A1 GABRA3 SDHC CALM2 AIP CYP27B1 STAT6 SHH CUL3 CDH23 ATP6V0A4 CPOX TRNT1 RET CLCNKB STAR LAMC2 PHEX HLA-DRB1 CACNA1D MAX CALM1 NCF1 MRAP TRAF3 CASR BTK CDC73 KIF23 GNAS-AS1 CYP3A4 COL3A1 DNAJC30 PPOX PDGFRB CDKN1B SCNN1A DNMT3A PIK3C2A DISP1 SLC9A3R1 BCS1L CLCNKA ABCD3 KCNJ2 FGF8 BCL7B OCRL CNNM2 ARNT2 PIGA SLC5A1 ENPP1 CACNA1C MDH2 SEC24C CYP2R1 HNF4A HLA-DQB1 GATA3 CYP11A1 COMT EIF2AK3 JMJD1C HADHA NAB2 FAT4 IARS1 FAH EGF TLR3 SLC4A1 UBR1 SLC30A2 ELN TBCE CSF1R BSND EIF4H LPIN1 SLC39A14 SLC30A10 FGF23 SLC34A3 WNK4 MEN1 SETD2 KCNE2 UNC93B1 TBX19 KIF1B STIL PTH BUD23 OSTM1 KCNJ5 HIRA PKLR GLI2 CLDN3 SLC39A8 SCNN1G TBX1 ABCC6 TCIRG1 HSD11B2 SCO2 GATM LYST SLC30A9 EHHADH DZIP1L CALM3 CCND1 VDR CYP17A1 EPAS1 FH CDKN2C ARVCF SLC40A1 ATP1A1 UNC45A CDKN1A KCNN4 NOS1AP PIEZO1 SARS2 SLC25A11 SDHAF2 RREB1 TMEM270 NR3C2 COG2 NF1 KLHL3 KCNJ1 RYR1 CLCN2 GTF2IRD1 KCNJ18 NFKB2 ATP6AP1 SLC3A1 PRF1 ESS2 FOXP3 CYP11B1 NUP214 KCNQ1 ATP6V0A2 TMPRSS6 TMEM127 SNTA1 TNFSF11 PGAP2 APC2 TFR2 KCNJ10 HADHB KCNH2 SNX10 TBX5 WNK1 SYK METTL27 MAGED2 CLDN19 CLCN7 DGCR8 CHD7 CAV1 FARSB USP8 TBK1 NOTCH3 SLC12A3 MC2R DLST SLC26A3 ALAD ADAMTS3 ABCB6 AP1B1 CLDN10 KCNE1 MMP1 IFT122 ALDOB RFC2 ELP1 SLC7A7 TTC37 LAMA3 SLC2A2 HSD3B2 FOXP1 TNFRSF11B PDE4D ALG12 HRAS TDP2 INVS CAV3 INPPL1 NNT PLVAP SEMA3E CLIP2 RMRP ABHD11 ALG8 CLDN16 ACADVL TICAM1 PIGT DGCR2 NSD1 ORAI1 CYP24A1 CAMKMT TXNRD2 LAT2 STX1A AKAP9 BMP2 CA12 BTNL2 PREPL SAMD9 HJV MLXIPL DGCR6 ALPL LIMK1 TRDN AP1S1 CP KRAS PCBD1 BAZ1B TRPM6 SCN4B FXYD2 CCBE1 SLC2A1 ALAS2 PPM1B HAMP UFD1 TRIO NR0B1 NR3C1 SCN10A ANK2 PTH1R AP2S1 GTF2IRD2 GP1BB ALDOA KL LDHA SDHA HLA-DQA1 FKBP6 CLDN4 KCNE3 COL7A1 VPS37D SPATA5 DSG1 CDKN1C HP_ABNORMAL_CIRCULATING_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_AMINO_ACID_CONCENTRATION NDUFS4 SARDH CTH RRM2B PSPH SLC25A15 CPS1 HPD PET117 TRMT10C AMT MMAA PRODH CA5A COX5A MT-ND5 SLC19A1 PSAT1 NOS3 NADK2 NAGS TTC37 MMACHC MMADHC FBXL4 TAT TALDO1 FAH MIPEP UROC1 MTO1 SLC25A13 FBP1 MT-ATP6 COX10 GUCY2D GCH1 MTHFR POLG ASS1 LMBRD1 HFE SPR SUCLG1 MT-ND3 PTS GLUL APP GLYCTK FTCD PCK1 SLC30A10 COQ9 MRM2 ARG1 MT-ND1 PC GLRX5 AASS ASL MT-TK QDPR UQCRC2 ADK GCSH MT-ND4 SCO1 AHCY GLDC PNPO COX8A CBS MCCC1 DLD ALDH4A1 IRF6 LIPT2 KYNU MTRR TMEM70 PCBD1 ABCD4 MT-ND2 KARS1 NDUFB10 MDH1 PDHX MCCC2 BCKDHB MICOS13 MT-TL1 OTC ASPA MMAB TMEM126B PAH PNPLA8 COX16 MT-TW ALDH5A1 NDUFC2 OAT BCKDHA PCCB MT-ND6 ATP5F1A NFS1 MAT1A MPO DMGDH PCCA HAL BCKDK PDHA1 SLC7A7 GNMT NDUFA13 BCAT2 PDP1 MT-TV PRDX1 TNFRSF11B COX6B1 PHGDH TYMP MMUT MRPL3 DBT PLAU MTR HP_HYPOCHLOREMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCHLOREMIA SLC12A1 CLCNKB MAGED2 BSND CLCNKA KCNJ1 SLC26A3 HP_ABNORMAL_ECHOCARDIOGRAM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ECHOCARDIOGRAM POLG2 RRM2B B2M TTN LAMA2 GTPBP3 PPCS ACADVL SCN5A TWNK NPPA FXN SLC25A4 RPL3L COA6 FBN1 FHOD3 POLG DYSF HP_ABNORMAL_CIRCULATING_HORMONE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_HORMONE_CONCENTRATION GNRH1 SDHD PROM1 GALK1 DIS3L2 IARS2 MAFA PCARE HERC2 SEMA3A LMNA FMR1 EIF2S3 PTCH1 STX16 TRMT10A CDKN2B VHL KISS1 FOS SOX3 HESX1 GNAS HNF1A GPR101 KCNJ11 TP53 ANOS1 C14orf39 OFD1 MCTP2 DLL1 INSR TDGF1 FGF8 NR5A1 LIPE UCP2 IDH3B CAVIN1 HFE AGPAT2 SIX3 GHR PRKAR1A TP63 POMC AIP SDHB FLNB IRS4 SIN3A PIK3CA FAM111A TSHB WDR11 POU1F1 RBM28 DCAF17 FOXH1 INS DMRT3 KIAA1549 IDH3A SAG RGR FIGLA NF1 PDGFB PRPF31 KATNIP SDHC TACR3 CCDC141 CRX NANOS1 GLI2 BNC1 PRPH2 BAP1 ZIC2 IMPG2 FANCM CYP27B1 TOPORS GUCA1B STAT6 PDX1 NDN WDR4 ERCC6 WNT4 CDH23 LHX3 MADD ALMS1 IFT88 STAR RFWD3 HFM1 SRD5A3 PHEX WWOX PROK2 MAX REEP6 FGF17 MRAP CASR FOXL2 DHX37 FOXA2 POLE SPATA7 FSHR CNGB1 TGIF1 GNAS-AS1 ARHGEF18 CYP3A4 HADH NFKB2 AKT2 CDKN1B SEMA4A RET SNRPN KLHL10 SYCP3 ZFP57 OCRL PPARG MC2R ARNT2 DISP1 PSMC3IP SHROOM4 ADNP ROM1 MDH2 BRCC3 SLC39A4 QRSL1 CYP2R1 HNF4A CYP11A1 IYD SHH FANCI PDE8B GMNN PDE4D ARL3 SLC5A5 GLUD1 MC4R NAB2 POR ARL6 TSHR BSCL2 KISS1R DBH DMPK MCM8 HSD17B4 GHRHR IGFALS YY1 TXNRD2 USH2A MAGEL2 TBCE NODAL PDE6G ZFPM2 SPRY4 GCK CEL CRB1 VPS13B GLI3 FLRT3 TULP1 MAK PROP1 GHSR CDON AFF4 MEN1 GCM2 FGFR1 CNGA1 ESR1 FSCN2 TBX19 KIF1B TDRD9 PTH SRP54 DHX38 MTX2 BTK SOHLH1 KANSL1 KLHL7 SNORD116-1 CPE B4GALNT1 NSMF SMO GDF9 PMM2 LHX4 IGF1R HSD11B2 LHB AR KIZ MPI TTC8 GATB TAF4B POLR3GL RLBP1 RPE65 TBCK CDC73 SOX9 SMPD1 HYMAI PWRN1 WT1 USP9X GATC SPIDR SLC29A3 DUSP6 MKRN3 PRPF6 PWAR1 ADAT3 CYP17A1 ESCO2 FH RDH12 SYCE1 CFAP418 TUB PRPF4 HPGD CDKN2C TRPV6 MAP3K1 NR0B1 CDKN1A PNPLA6 SRY FEZF1 SLC25A11 RP2 TPO TEX11 RBP3 SDHAF2 FAM161A CEP57 TBX1 POMGNT1 TAC3 AMHR2 TRHR LEPR NR2F2 GATA4 DMXL2 THOC2 ABCC8 ARMC5 HS6ST1 SLC16A1 CA4 SLCO2A1 POLR3A ARL2BP DHH CFTR KMT2A RNPC3 NUP107 CLDN19 PDE6A GRM7 STAT5B LEP CYP11B1 TG PROKR2 AKT1 EYS TEX14 FGD1 PRPF3 DHDDS TMEM127 ADORA2A FSHB POLA1 MECP2 PITX2 PRCD IMPDH1 RRAS2 SBDS GAS1 CHD7 EIF2B5 RPGR TMEM67 SLC34A3 NR2E3 VAMP7 SOX10 PDE6B RHO NLGN4X ZNF148 NSMCE2 USP8 LARS2 TBX2 STAG2 ACP5 CBX2 MEIOB BLK ZMYND15 THRB TMCO1 BBS2 ATRX DUOX2 CYB5A PAX4 DLST ZMPSTE24 PAPPA2 MARS2 RP9 SIM1 TRAF7 EIF2B2 OCA2 DNAJC21 MRPS22 ZNF408 AIRE SCAPER RP1 AAAS COL2A1 SLC7A7 EFL1 IGF2 CERKL GALT SUFU NKX2-1 HSD3B2 AGBL5 FN1 NNT STAG3 SLC7A14 GH1 ABCA4 PLIN1 SMC1A SH2B1 SEMA3E GCGR CNBP FANCF LRAT SMARCB1 POLR3H PDE11A DAXX IL17RD GNRHR IFT172 NLGN3 DCC THRA CYP11B2 CTDP1 NEUROD1 PRPF8 VDR EIF2B1 HGSNAT NRL IFT140 NF2 AHI1 SMARCE1 PRKACA EPAS1 PREPL CDHR1 BEST1 ZNF513 WASHC5 ALG6 KLF11 TERT XRCC2 NDNF TEX15 APPL1 PLAGL1 AVP MERTK CLRN1 SNRNP200 OTX2 NEK2 AHR DUOXA2 FAM20A NR3C1 AMH EIF2B4 RNU4ATAC ABCD1 CAV1 ESR2 ALG12 BMP15 RP1L1 KL SOST SDHA DYRK1A POU3F4 RNF125 NPAP1 PCSK1 CFAP47 MCOLN1 PPP2R3C CIDEC EIF2B3 CDKN1C LHCGR HTR1A TBL1X SNORD115-1 HP_INCREASED_CIRCULATING_CORTISOL_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_CORTISOL_LEVEL PRKACA PRKAR1A GNAS CDKN1B CDKN2C TP53 PDE11A ARMC5 NR3C1 PDE8B MEN1 CDKN1A AIRE HTR1A CYP11B1 RET CDKN2B HP_ABNORMAL_CIRCULATING_LIPID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_LIPID_CONCENTRATION CFHR1 PPARG SAR1B ABCC8 GTF2I GALK1 CFH LCAT CREB3L3 KCNJ1 NUP107 LRP6 APOC3 SLC12A1 GTF2IRD1 POLR3A LMNA RAI1 DEAF1 SLC37A4 FECH NDUFAF6 PEX1 ATP6AP1 FOS ABHD5 FLII CCT5 SLC25A13 HNF1A MT-TK AGL PRF1 UNC13D APOB LIPE LEP UCP2 APOA2 LPL LEPR LIPC DHCR24 CAVIN1 PCSK9 AGPAT2 PEX26 CTNS HADHA STXBP2 SGPL1 APOA1 DLK1 PLA2G7 ATAD3A ABCG5 LMAN1 MCFD2 EPHX2 TMEM43 OCRL TSHB SC5D DCAF17 SLC52A1 SCO1 LMF1 MT-TE METTL27 LIPA TBL2 CPT1A APOA5 PLIN1 TDP1 DLD HMGCL SLC34A1 LDLRAP1 ABCA1 GLA PEX10 CAV1 NSMCE2 NGLY1 PHKG2 ACADS STX11 FARSA UBE3B MT-TL1 NADK2 PEX5 ACADVL COX16 PEX3 TNFSF15 ALMS1 PYGL MYO5A PEX7 ADCY3 SLC22A5 ALB ZMPSTE24 LMBRD1 LBR XRCC4 MMP1 TFG SYNE2 COG4 NCF1 APTX RFC2 ACADM FDFT1 PEX14 ACAD9 SLC7A7 DNAJC30 GATM AKT2 GPD1 EBP PSMB4 NPC2 GK PEX2 AEBP1 GLYCTK FBN1 CETP FLCN PEX6 PEX13 BCL7B HADHB PLVAP XIAP ABCD1 HNF4A ACAD8 IL12A PEX19 CYP11A1 SLC2A2 PNPLA2 CLIP2 TNPO3 MC4R ABCG8 ABHD11 BSCL2 TTPA CYP27A1 DMPK PHKA2 MCM10 MMACHC UBR1 AR CPT2 PIGT ELN PNLIP PEX12 SYNE1 SLC29A3 PIGH RSPO1 POLD1 TANGO2 NSDHL EIF4H GYS2 PANK2 CAV3 LMNB2 LAT2 ABCA2 PHYH GHR NPHS2 DAAM2 STX1A SETX PSMB10 CIDEC IL12RB1 TMEM199 JAG1 ABCB4 NPHS1 HSD3B7 DHCR7 HADH SMARCAL1 PSMB9 MSMO1 CCDC115 DGAT1 APOE BUD23 MTX2 CYP19A1 CEP19 CFHR3 RTL1 PSMB8 LIMK1 GPIHBP1 IQSEC2 CLDN3 APOC2 DYRK1B ALG6 PLA2G4A PEX11B CYP7A1 BAZ1B HSD17B4 ACOX2 LYST MMEL1 EHHADH MTTP TBCK LDLR SMPD1 HAVCR2 FHL1 GALNT2 PPP1R17 SLC2A3 IRF5 YARS1 LTC4S GTF2IRD2 ALG12 ANGPTL3 PCYT1A MEG3 PIK3R5 PEX16 PMM2 FKBP6 POU2AF1 CLDN4 COL7A1 TRMU HTT PSAP VPS37D ACTN4 MLXIPL G6PC1 RAB27A TMEM270 SLC25A20 SPIB TBL1X EMD MEF2A HP_LIMB_JOINT_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_JOINT_CONTRACTURE ERCC2 ATR RNU4ATAC ANKLE2 LMBR1 RTL1 IRF5 GNB2 LFNG ALX3 SH3PXD2B FBN1 TBC1D2B COL12A1 TPM3 TRPV4 KIF5A DPM1 B3GALT6 RAB23 SVIL CAV1 MMP23B MBTPS2 PPP2R5D SLC25A19 MYO9A ANTXR2 DHCR24 SMOC1 SPEN FGFR3 MYH3 EFNB1 OCRL ERLIN1 PITX1 MECP2 ERCC8 EZH2 ERCC1 GJA1 DAG1 NXN SPG11 MEGF10 PYCR1 NGLY1 WDR4 HACD1 COL11A1 EMD TBX15 HOXD13 RERE PRKCZ SLC35A2 GLI3 PYROXD1 OTUD6B HSPG2 ALDH18A1 GMPPB PORCN MAFB NALCN EMG1 PEX5 SIK3 ERGIC1 ITGB4 PIGN CTCF ROR2 MEG3 UNC80 CDT1 MED12 NOD2 PQBP1 TPM2 ZDHHC9 FDFT1 ASXL1 PHF6 F8 GMNN MYOD1 OSGEP MYLPF CNTN1 PIK3C2A C19orf12 BCR DHODH MMP2 COG5 TP53RK SLC26A2 COL6A3 CCN2 SELENON PSTPIP1 ITGA7 SPEG B3GAT3 TMEM70 TP63 CAPN3 DVL1 PSAT1 ORC1 FAT4 POR DYRK1A CNTNAP1 KDM5C SDHAF1 ORC4 FKRP LAMA3 KIF22 LMNA GCK ANO5 NIPBL HRAS NUP107 NEFL ZBTB20 TOR1A FHL1 COL6A2 SETD2 ACTA1 UBE4B PDX1 IDUA ECEL1 SGCG DHX16 DLK1 SLC39A13 SCARF2 PSMB8 PIEZO2 SLC39A8 LGI4 DPAGT1 SPTBN4 SLC18A3 COL17A1 RPL10 COL6A1 FBN2 PLEKHG5 TBX3 MYH7 CCN6 POLR3GL SMG9 KAT6B GPKOW ERLIN2 RYR1 FERMT1 DDR2 NUP133 AUTS2 TGFBR2 NAA10 SDHB GFM2 ZC4H2 SLC29A3 EXTL3 SKI ADAT3 CPT2 RAPSN CANT1 TBR1 KY PHGDH BAG3 CHRNG PLOD2 KCNK9 SDHA TUBB3 GDF5 FGD1 ABCC8 TRIM2 COL11A2 PMP22 EIF5A FZD2 TWIST2 PDPN PAX3 HS2ST1 SDHD GPC4 WDR73 NLRP3 BCOR SLC25A46 FLVCR1 RIPPLY2 SLC35A3 ESCO2 MT-TE SIGMAR1 NUP88 FBXW11 RTTN POMT1 FKBP10 LMX1B IDS MYL2 MESP2 TELO2 ALX1 CHST3 MYOT BICD2 WNT5A FKTN BMP4 TMEM43 APC2 TTN ALS2 TPRKB TGFBR1 CRPPA LAMA2 SMARCAD1 SLC6A9 LIFR SH3TC2 CUL4B MUSK FLNA WDR26 TOR1AIP1 DLL3 MORC2 MAP3K7 CDC6 SPRTN OPA1 KLHL9 IGHMBP2 AMER1 P4HTM MYBPC1 SLC10A7 PLOD1 ERCC6 GPC3 ECE1 ALAD ADAMTS3 PLEC TFAP2A ZMPSTE24 LUZP1 TGDS IKBKG SYNE2 SHH PEX6 NEB TNNT1 LAGE3 ACTG2 PIGL CRKL HINT1 ARID1B GTF2H5 DSP TNNI2 MED25 ALG2 FIG4 TGFB3 LAMC2 ADAMTSL2 PRG4 NOG NT5C2 GNPTAB L1CAM DDHD2 ALG14 FGFR2 GARS1 HLA-DRB1 UPF3B KIAA0319L TNNT3 GJB2 DOK7 NSD1 SYNE1 CCBE1 CRLF1 ALG3 ATP6V1E1 KCNAB2 ASXL3 SNRPB KCNJ11 HES7 STAT3 SMC1A TRPS1 MAPK1 IL6ST NSUN2 CDC45 PEX1 UBA1 PIGY ABHD12 XYLT1 SUZ12 POLR3A ARX GJB1 CLCF1 DVL3 CCR6 CASZ1 COL2A1 PRDM16 BIN1 INS PTRH2 JUP PNPT1 UROS LARGE1 PTH1R EXOC6B ABCD1 SGCA ERCC5 GFPT1 CDH3 SMAD3 SRD5A3 PTDSS1 BRF1 CTDP1 RAB3GAP1 MAP3K20 PLOD3 LAMB3 SEPSECS TCTN3 ORC6 ERCC4 EED GABRD PIK3R2 FUS WNT7A HP_HYPERCHOLESTEROLEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERCHOLESTEROLEMIA CYP7A1 LDLRAP1 CAV1 PHKG2 GALK1 CREB3L3 NUP107 LRP6 APOC3 RAI1 LMNA DEAF1 ALB ABCG8 TTPA SLC25A13 DMPK ATP6AP1 LPL FOS FLII PHKA2 LDLR LIPC APOB SLC37A4 PYGL DLK1 RSPO1 MEG3 CAV3 CAVIN1 PCSK9 PIK3R5 DAAM2 AGPAT2 COG4 SETX APTX TDP1 TMEM199 LIPA JAG1 ABCG5 SLC7A7 ABCB4 OCRL CCDC115 TSHB DGAT1 RTL1 APOE MTX2 CETP CEP19 GHR PPARG IQSEC2 TBL1X APOC2 DYRK1B MEF2A BSCL2 HP_REDUCED_FACTOR_VIII_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_FACTOR_VIII_ACTIVITY F8 VWF LMAN1 MCFD2 SOS1 HP_LOW_MOLECULAR_WEIGHT_PROTEINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_MOLECULAR_WEIGHT_PROTEINURIA GATM CLCN5 CTNS NDUFAF6 LRP2 EHHADH SLC34A1 OCRL HP_HYPOCALCIURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCALCIURIA SLC12A3 AP2S1 CLCNKB PHEX FAM20A CLDN10 FXYD2 GNA11 KCNJ10 CASR HP_LACTIC_ACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACTIC_ACIDOSIS NDUFS4 COQ2 SLC25A3 NDUFS1 CYC1 TRMT10C MT-TS1 BCS1L PDHB AGK SFXN4 SLC37A4 MT-ND6 PDHA1 EARS2 SLC13A5 ATP5F1D MT-CO2 MT-TV COA8 MIPEP NDUFS7 MTO1 SLC25A13 FARS2 RYR1 SLC3A1 COA6 TK2 IBA57 HADHA MT-TS2 MT-TT NAXE LRPPRC TRNT1 PC MRPS16 SDHD WARS2 MPV17 LIAS MT-TE ISCU LYRM7 MT-TH NDUFS6 DLD PDSS2 AARS2 LIPT2 TRMU NDUFA11 TMEM70 PHKG2 PDHX BCKDHB NDUFAF3 NFU1 MT-ND5 SUCLG1 MT-CO1 PNPLA8 NADK2 COX16 PDP1 NDUFA8 LARS2 ELAC2 ATPAF2 MT-TW UQCRFS1 YARS2 FOXRED1 MT-TQ MLYCD TYMP TAFAZZIN SLC25A26 PLPBP ACAD9 SLC25A19 PYGL NDUFA10 LONP1 NDUFA6 OGDH PCCA NDUFB10 NDUFAF8 GTPBP3 PUS1 NDUFV2 NDUFV1 MT-ND1 FH NDUFB9 COQ8A MT-TC TKFC BOLA3 NDUFS8 ALDH7A1 NDUFAF1 MT-ND4 HADHB LYRM4 ALDOB QRSL1 RRM2B HSD17B10 NDUFS2 MT-TL1 SLC25A42 CA5A NDUFAF4 MRPS34 FBXL4 MRPS7 PHKA2 FBP1 MT-TF NDUFAF2 COX10 POLG NDUFAF6 SERAC1 TANGO2 SLC25A4 LIPT1 CAMKMT MT-TN ETHE1 MPC1 NDUFB11 DLAT PCK1 COQ9 PREPL MT-TK HADH ATP5F1E MT-ND2 NDUFAF5 SQOR TPK1 TSFM MRPS14 DNM1L SDHA COX8A DGUOK NDUFS3 MT-CO3 NDUFB3 MICOS13 MT-ND3 GATB PPM1B NDUFA1 NDUFA4 TIMMDC1 BCKDHA PCCB GATC MT-CYB SURF1 NUBPL LARS1 PMPCA USP18 UQCC3 PET100 TUFM COX6B1 G6PC1 SCO2 RMND1 TMEM126B SUCLA2 DBT GFER HP_ABNORMAL_PERIPHERAL_MYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PERIPHERAL_MYELINATION KLC2 RRM2B RAI1 DNMT1 NDRG1 ZNHIT3 NTRK1 TYROBP MT-ND5 LITAF MTMR2 EGR2 UBTF DHH DNM2 FGD4 MMACHC MT-ATP6 ELP1 MME PMP22 SACS NGF PLP1 SH3TC2 MPZ POLG SPTBN1 GALC MT-ND3 PRPS1 COX6A1 RAB7A CTDP1 NEFL GDAP1 TPRKB MTRFR LRPPRC MOCS2 FLRT1 FLVCR1 MT-ND1 WNK1 MT-TK SUMF1 ARSA VPS13A KCNJ10 INF2 MT-ND4 MPV17 ERCC8 ASXL1 KIF1C DHX16 PRX SCN9A COQ7 JPH1 SLC12A6 MT-ND2 SURF1 SBF1 ABCA1 GAN ARHGEF10 MORC2 KIF1B MT-TL1 GJB1 DCAF8 MTTP FA2H SOX10 SBF2 MT-TW LMNA HSPB8 HACE1 MT-ND6 PLEKHG5 MAT1A PMP2 HK1 TFG APTX GNB4 RETREG1 KIF1A SPG11 MOCS1 SPTLC1 NDUFAF4 PSAP TRIM2 MT-TV TYMP ERCC6 GCDH LMNB1 FAM126A FIG4 MFN2 HP_CYSTINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYSTINURIA PREPL SLC3A1 PPM1B AASS CAMKMT SLC7A9 HP_ABNORMALITY_OF_THE_SPINOCEREBELLAR_TRACTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SPINOCEREBELLAR_TRACTS ATXN1 MAN2B1 GJB1 RRM2B ATXN3 ATXN2 GCLC PLP1 RNASEH1 TDP1 HP_PROLINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLINURIA SLC36A2 SLC6A19 OPLAH SLC6A20 ALDH4A1 PRODH SLC6A18 HP_INCREASED_BLOOD_UREA_NITROGEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_BLOOD_UREA_NITROGEN CFHR1 DBH ERCC8 CFI FAN1 CFB CD46 CFH ELP1 C3 THBD ERCC4 SLC2A9 CFHR3 SLC22A12 ERCC6 PIGA ADAMTS13 HP_PANHYPOGAMMAGLOBULINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANHYPOGAMMAGLOBULINEMIA SKIV2L RFXAP ZAP70 TTC37 RAG1 MPLKIP GTF2E2 RFX5 CIITA RAG2 TARS1 JAK3 ERCC3 BTK IL21R RNF113A GTF2H5 DCLRE1C ERCC2 RFXANK SP110 HP_INCREASED_LDL_CHOLESTEROL_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_LDL_CHOLESTEROL_CONCENTRATION CYP7A1 LCAT ABCA2 GHR SYNE2 LDLR LMNA TMEM199 ABCG5 SLC7A7 LDLRAP1 EPHX2 TMEM43 CCDC115 SMPD1 TTPA APOE SLC25A13 ABCG8 FHL1 CEP19 APOB PPP1R17 SYNE1 LIPA APOA2 LPL EMD ALB PCSK9 HP_INCREASED_SERUM_SEROTONIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SERUM_SEROTONIN MECP2 CDKN1B CDKN2C DAXX NLGN3 MEN1 CDKN1A SNRPN ATRX SDHD SHROOM4 NLGN4X CDKN2B HP_DECREASED_ADENOSYLCOBALAMIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ADENOSYLCOBALAMIN LMBRD1 ABCD4 PRDX1 MMACHC MMAB MMADHC MMAA HP_HYPOCHOLESTEROLEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCHOLESTEROLEMIA SAR1B CCT5 PMM2 FLCN FDFT1 MTTP PEX12 ATAD3A PSAP ABCA1 UBE3B HSD3B7 DHCR7 ALG12 MSMO1 HP_ELEVATED_SERUM_ACID_PHOSPHATASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_SERUM_ACID_PHOSPHATASE TNFRSF11B PSAP CLCN7 OCRL CA2 HP_HYPERURICOSURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERURICOSURIA SLC22A12 PRPS1 HPRT1 GATM NDUFAF6 ALDOB EHHADH SLC34A1 SLC2A9 HP_GLUTARIC_ACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLUTARIC_ACIDURIA ETFDH SUGCT GCDH ETFA DNAJC19 D2HGDH HMGCL ETFB HP_INCREASED_CIRCULATING_ACTH_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_ACTH_LEVEL CYP11A1 USP8 POR DAXX NR3C1 AIP CYP11B1 MRAP MC2R ATRX HP_HYPEROXALURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPEROXALURIA HOGA1 PEX1 GRHPR AGXT SLC26A1 HP_FASTING_HYPOGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FASTING_HYPOGLYCEMIA PHKG2 GYS2 TBX19 HNF4A PHKA2 ABCC8 FBP1 PCK1 HNF1A SLC2A2 GCDH SLC1A1 INSR KCNJ11 SLC25A20 IGF2 IARS2 HP_ELEVATED_URINARY_DELTA_AMINOLEVULINIC_ACID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_URINARY_DELTA_AMINOLEVULINIC_ACID FAH ALAD CPOX PPOX HMBS HP_HYPOTHALAMIC_GONADOTROPIN_RELEASING_HORMONE_DEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOTHALAMIC_GONADOTROPIN_RELEASING_HORMONE_DEFICIENCY PROK2 FGFR1 FGF8 CCDC141 CHD7 DUSP6 TACR3 HESX1 FLRT3 ANOS1 HS6ST1 NDNF IL17RD SEMA3A SOX10 SPRY4 DCC FGF17 FEZF1 PROKR2 WDR11 HP_ELEVATED_CIRCULATING_PARATHYROID_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_CIRCULATING_PARATHYROID_HORMONE_LEVEL SOST NF1 GNAS CDC73 CYP2R1 MEN1 CASR VDR STX16 PRKAR1A GNAS-AS1 PDE4D CYP3A4 CYP27B1 CDKN1B GCM2 PHEX KL HP_ABNORMAL_ACETABULUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ACETABULUM_MORPHOLOGY DYM PTH1R TENT5A TMEM251 KDELR2 B3GALT6 FLNB SLC26A2 TRIP11 SMARCAL1 RAB23 COL2A1 SLC35D1 AP4S1 IFIH1 GLB1 FKBP10 TIMM22 MBTPS2 POLR1A GNPTAB SMAD3 AP4E1 COL1A1 FBN1 COL10A1 CANT1 MYO18B EIF4A3 RPS15A HOXA11 COMP BGN UFSP2 CSGALNACT1 PLOD1 EVC TGFB2 MATN3 XYLT1 CRTAP MIR140 TRPV4 AP4B1 GPX4 FGFR2 SERPINF1 GUSB COG1 TBX4 COL1A2 GATA1 CCN6 HSPG2 VPS33A ERGIC1 RINT1 NANS CEP120 DYNC2I1 ARSB CSPP1 TGFBR2 TONSL EXTL3 HYAL1 WDR35 KIAA0586 AP3B1 DYNC2H1 AP4M1 CHD4 CENPJ FGFR3 MMP2 RNU4ATAC INPPL1 EVC2 IFT52 HP_ABNORMALITY_OF_THE_PUBIC_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PUBIC_BONE NSD2 FRAS1 ATP7A GRIP1 IRF5 FGFR2 FLNA HLA-DRB1 CTBP1 TBX15 DYM CCN2 KIAA0319L KAT6B CCR6 CAV1 CPLX1 GSC INPPL1 OBSL1 SMAD4 RNU4ATAC INTU HSPG2 NKX3-2 COL2A1 NELFA LETM1 ABCC9 CCDC8 COL11A2 FREM2 SETBP1 CUL7 RUNX2 MATN3 PIGG WNT7A HP_ABNORMALITY_OF_THE_ISCHIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ISCHIUM IRF5 LIFR FGFR2 COL11A1 HLA-DRB1 ABCC9 CCDC8 TBX15 TRIP11 PAM16 ALG9 COL11A2 CCN2 KIAA0319L KAT6B CCR6 CUL7 CDCA7 CAV1 COL2A1 INPPL1 OBSL1 IFT43 EXTL3 HSPG2 HP_HYPOPLASTIC_ISCHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_ISCHIA CUL7 CDCA7 FGFR2 COL11A1 COL2A1 ABCC9 INPPL1 CCDC8 TBX15 TRIP11 PAM16 OBSL1 IFT43 KAT6B COL11A2 HSPG2 HP_SQUARED_ILIAC_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SQUARED_ILIAC_BONES PLCB3 PAM16 CEP120 INPPL1 AEBP1 LONP1 TRPV4 PTH1R RNU4ATAC NEPRO HP_PROTRUSIO_ACETABULI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROTRUSIO_ACETABULI TENT5A KDELR2 MBTPS2 SMAD3 MMP2 SERPINF1 PLOD1 TGFB2 COL1A1 FKBP10 FBN1 COL1A2 TGFBR2 CRTAP HSPG2 HP_FLAT_ACETABULAR_ROOF http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLAT_ACETABULAR_ROOF MIR140 TRPV4 COL2A1 TMEM251 WDR35 CANT1 GPX4 COMP COG1 GNPTAB CHD4 FLNB TRIP11 DYM SLC26A2 PTH1R FGFR3 NANS SLC35D1 BGN CSGALNACT1 CEP120 INPPL1 MATN3 XYLT1 IFT52 HP_SHALLOW_ACETABULAR_FOSSAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHALLOW_ACETABULAR_FOSSAE TBX4 RAB23 GATA1 IFIH1 HOXA11 SMARCAL1 RNU4ATAC TONSL UFSP2 GNPTAB HP_WIDE_PUBIC_SYMPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDE_PUBIC_SYMPHYSIS FRAS1 DYM GRIP1 FREM2 RUNX2 HP_DECREASED_HIP_ABDUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_HIP_ABDUCTION MATN3 CHST3 TNNT1 TPM2 PIEZO2 HP_SHORT_GREATER_SCIATIC_NOTCH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_GREATER_SCIATIC_NOTCH FGFR3 GPC4 TRPV4 SLC26A2 GPC3 HP_INVERTED_NIPPLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INVERTED_NIPPLES PMM2 SLC25A46 ACOX1 BICRA RERE ALG11 PEX3 INTU DPAGT1 SLC35A2 PIGT HNRNPK DPM1 ALG9 WASF1 RTL1 MAN1B1 EBF3 RFT1 MGAT2 TBX3 ALG8 ALG3 KAT6A ALG12 EZH2 MEG3 WAC TCF20 NFIX DLK1 ATN1 COG7 SOX6 HP_BREAST_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BREAST_HYPOPLASIA GNRH1 FGFR1 CHD7 DUSP6 TACR3 CCDC141 TP63 HS6ST1 NDNF SEMA3A USP9X FGF17 ORC1 IKBKG WDR11 MAF KISS1 TBX3 ORC4 ANOS1 EFNB1 IL17RD ANTXR1 GNRHR DCC PROKR2 PROK2 SPRY4 YY1 FLRT3 CDT1 FSHB FEZF1 FGF8 NIN ESR1 KISS1R HESX1 TWIST2 ORC6 TAC3 SOX10 NSMF POC1A HP_LONG_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_NOSE RECQL4 THOC6 ACTB SATB2 ABL1 PIGU POLE JAG1 NEXMIF SOX11 SLC9A6 ACTG1 NBN TWIST1 AP4E1 ABCC9 SPATA5 XRCC4 SRCAP SCUBE3 ASXL3 MED12 SOX18 AP1S2 PIGS OPHN1 FGFR2 SETD2 PIEZO2 RNU4ATAC NOG NOTCH2 EXTL3 GJA1 KAT6B HP_ALLERGIC_RHINITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALLERGIC_RHINITIS SIK3 PGM3 CARMIL2 IL4R PLA2G7 PLCG2 COX4I2 SPINK5 MS4A2 SLC27A4 HP_SHORT_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_NOSE NXN TCTN2 LMNB1 GPC4 GTF2I HDAC8 B3GALT6 BUB1B ZNHIT3 DIS3L2 BMP2 KRAS GTF2IRD1 POR KIF7 RAI1 DEAF1 INTS1 RAB3GAP1 BMPER DNMT3B SLC25A24 MEF2C ROR2 SC5D SIX3 KMT2A TRIO FLII GATA4 SPOP RAB3GAP2 DDB1 INPPL1 TRIP12 SLC2A10 TRMT10A GLI2 PIGV PPP2R5D ARSL ABCC8 LONP1 DHCR24 ADSL FGFR2 DCPS SMOC1 SPTBN1 BRAF GLI3 HOXB1 FAM20C PTEN FGD1 RAB18 ABL1 FZD2 NEXMIF WNT5A TBC1D20 SIN3A ZSWIM6 PGAP2 PRKAR1A MBD5 ATAD3A TGIF1 DPF2 SMO TMCO1 PARS2 METTL27 NIPBL NFIX TBL2 TCF20 MADD GJA1 FGF8 MAP2K2 NALCN SYT1 KCNJ11 SMARCB1 MIR140 FLNA RAC3 ERF PPP1R12A COL11A1 RNF13 ZIC2 SATB2 CDON ACTB FGFR1 UBE3B MAF SON PLCB3 PIGF DVL1 RSPRY1 YWHAE FOXH1 PPP1R15B PIGN PAK3 ZNF699 SPECC1L CTCF EFTUD2 GPC3 TRIP11 PHIP ECE1 ALDH6A1 DVL3 MARS2 RPS7 MTOR YARS2 MED13L DPM2 PEPD EDA DSE CACNA1G SHH HDAC6 PLAA ATP6V0A2 NCF1 HUWE1 CREBBP RFC2 ATRX NODAL SMARCC2 PAX3 APC DNAJC30 IL1RAPL1 B3GLCT MOCS1 CHST14 FBN1 FOXP1 ALG9 CLP1 SETBP1 SMARCD1 ATP6V1A CD96 COL2A1 BCL7B HIC1 GTPBP2 LRP4 GAS1 ARID1A COG7 RAD21 ADNP LTBP3 RECQL4 ADAMTSL2 PURA SOX4 ZPR1 ARID2 PDE4D PPP1R21 GRIN2A LIFR GMNN SHOC2 PLA2G6 SOX11 COX7B CLIP2 ZMPSTE24 GGCX ABHD11 PTCH1 CHSY1 ZBTB24 GPC6 KIAA1109 MYH3 ELN ARID1B SMARCE1 FUT8 EIF4H VARS1 NCAPG2 LAT2 GLUL HSPA9 STX1A PAFAH1B1 ASXL3 MOCS2 AFF4 COL11A2 SMARCA4 MLXIPL BRD4 CANT1 CDCA7 BUD23 CCDC22 SMC1A BPNT2 RIPK4 TXNL4A TBL1XR1 DPYD LIMK1 PPP1CB IQSEC2 CLDN3 TRRAP PUS1 MPLKIP BAZ1B SLC12A6 NPR2 FAR1 LRP2 MYMK PIGU PEX6 AVP PIGT SLC26A2 VPS33A PUF60 EHMT1 POU1F1 SNRPN MAP2K1 STAMBP DDR2 SMC3 NRAS KIF1A PIGO CASK VPS53 WNT7A ZNF462 TAPT1 FLI1 GTF2IRD2 TONSL OFD1 EXTL3 ADAT3 ATP6V1E1 DYRK1A WAC PYCR2 FKBP6 PAM16 TDGF1 CLDN4 FLNB AGA VPS37D HRAS DLL1 PLOD3 CEP57 WASHC5 DISP1 TMEM270 TCTN3 NFIA CDKN1C FOXG1 MN1 CCDC88A PTH1R POLR1A SUFU GBA UBR1 HP_MYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOPATHY PPARG OPA1 GTF2I PPCS CFL2 SELENON CHRNB1 GNE SLC18A3 AGK TNNI3 MT-ND6 NEFL MT-CO2 MT-TV ABHD5 SVIL MT-TP PLN MMP23B CAPN3 TNNT2 TK2 TTN GLI2 COL13A1 TMPO MYH7 FXR1 FKTN CENPF CTNS NDUFS2 MSTO1 SPEN MT-TS2 MAN2B1 SCN4A AGL MYO9A ANKRD1 POLG2 MT-ATP6 MT-TE MT-TF ISCU LMNA TBL2 DYSF DPM3 VCP DOK7 PRKAG2 TNPO3 TPM3 HNRNPA2B1 PLEC AKT1 ZIC2 EMD ACADS CDON CHRNE RERE PRKCZ MYH6 TRAPPC11 MT-CO3 HSPG2 SGCB CCDC174 GMPPB KBTBD13 POLG ABCC9 PSEN1 FOXH1 TNNC1 UNC80 CACNA1S MT-TW MTAP POMT1 TPM1 MYOT YARS2 LAMA4 RYR1 SLC22A5 NCF1 ACADM ACAD9 COL12A1 NODAL ACTN2 DNAJC30 CHST14 SYT2 CHRNA1 RRM2B MT-TC TPI1 MYBPC3 NARS2 FKBP14 SLC25A1 FHL1 COL6A3 BCL7B KLHL41 MTMR14 DSP NEB MT-CYB COLQ SIL1 ORAI1 PNPLA2 LMNB2 MYH14 DNA2 HADHA NUBPL BSCL2 DNM2 SDHAF1 MYPN FKRP CHAT CHRND ELN MT-TQ GFER ANO5 TANGO2 SLC25A4 EIF4H CAV3 COL9A2 ZBTB20 MT-TK ACTA1 MT-CO1 DNM1L UBE4B TPM2 RAPSN BUD23 AP1S2 PDE8B UBA1 SGCG CISD2 DHX16 MT-TS1 CLDN3 SGCD MYOD1 PUS1 HNRNPA1 DPAGT1 MT-ND4 B4GALT1 DNAJB6 MYMK COL6A1 CRYAB ACACA SDHA SDHB CSRP3 FLNC TKFC TCAP ACTC1 TBCE DES BAG3 GYG1 MTTP PRKAR1A TDGF1 TRMU ADSS1 RAF1 NDUFAF1 MT-TI PGK1 DLL1 LAMB2 CDH23 INPP5K LDB3 TMEM270 AGRN COL6A2 STIM1 SLC5A7 MT-ND4L PDPN SUFU SDHD SQSTM1 SLC25A3 GTF2IRD1 MYBPC1 SIX3 C1QBP ERGIC1 GIPC1 VAMP1 POMGNT1 GCLC TXNRD2 B3GALNT2 HNRNPDL TMEM43 TAF1A NEXN VCL VPS13A HADHB TRIP4 TGIF1 RBM20 METTL27 MYF6 CRPPA ALDOA PRDM16 MT-TH FGF8 LMOD3 PGAM2 NDUFA11 CHKB COL9A3 CAP2 FLAD1 EPG5 MT-ND5 KLHL9 PTEN PLOD1 BIN1 GATAD1 MT-ND1 LUZP1 DSE SHH MUSK TAFAZZIN SYNE2 COMP LRP4 RFC2 TNNT1 VMA21 USP8 NDUFAF4 GK LAMP2 XK ITGA7 DSG2 ALG2 GAS1 LARGE1 PANK2 AK9 ALG14 MT-TL1 MT-RNR1 CLIP2 ABHD11 FGFR1 SNAP25 MT-ND2 SYNE1 TIA1 LAT2 STX1A KCNAB2 FHL2 PABPN1 SCN5A TRIM32 MYO18B WFS1 CPT2 DOLK ALPL TWNK POMT2 KLHL40 NEFH LIMK1 SKI MGME1 BAZ1B MYH2 DMD PDE11A NDUFB3 AMPD1 HAND2 ADGRG6 NALCN XDH COL9A1 CASZ1 UNC45B PTCH1 PSEN2 CASQ1 VWA1 GTF2IRD2 CHCHD10 MT-TT GFPT1 FKBP6 CLDN4 VPS37D MLXIPL SGCA PRKACA SAR1B DISP1 RET RMND1 GABRD LRP12 HP_DECREASED_MUSCLE_MASS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_MUSCLE_MASS PANK2 RRM2B HSD17B4 AKT1 FSHB CTBP1 PIEZO2 COL12A1 HERC2 FARSA SMS AP4E1 NDN PTEN SLC9A6 PLOD1 PWRN1 COLQ LETM1 NSD2 GFPT1 POLG FGFRL1 MKRN3 PWAR1 DSE ALDOA LMX1B SPARC ATP6V1E1 CPLX1 HFE TBC1D20 RAB18 ATP6V0A2 GYG1 FUCA1 CHRNE NPAP1 FBN1 FUZ CHST14 TRIM2 ECEL1 RUSC2 TYMP ATP6V1A SNRPN G6PC1 STRADA VANGL1 MAGEL2 SNORD116-1 MAP3K7 SNORD115-1 TGFB3 SH3TC2 HP_RAGGED_RED_MUSCLE_FIBERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RAGGED_RED_MUSCLE_FIBERS NDUFS4 RRM2B COQ2 MT-TF MT-TN MT-TS1 ALG14 MT-TL1 MT-RNR1 TK2 MT-ND5 CHCHD10 MT-TP MT-ND6 EARS2 POLG MT-CO2 MT-TK ALG2 MT-TV MT-ATP6 MT-TQ SLC25A4 MT-ND3 MT-TS2 PABPN1 MT-ND1 MT-ATP8 POLG2 MT-ND4 CARS2 MYH7 MT-TE SDHA TWNK BCS1L NEFH MT-TH MGME1 DPAGT1 MT-ND2 AIFM1 MT-CO3 SUCLG1 MT-CO1 GMPPB MT-TW MIEF2 SLC25A32 MT-CYB TYMP SLC25A26 GFPT1 TRMU MT-TI DGUOK MT-TC SPG7 MT-TL2 HP_RHABDOMYOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RHABDOMYOLYSIS SEPSECS GABRA3 SLC25A20 CLCNKB SLC25A42 AMPD1 RYR1 CPT2 HADHA ATP5F1D DGUOK PYGM SUCLG1 KCNJ18 SLC12A3 POLG LDHA ACADVL CACNA1S FDX2 ANO5 TANGO2 ALDOA PGK1 LPIN1 CTDP1 TSEN15 TRAPPC2L TSEN2 HADHB PGM1 TSFM TSEN54 XK ISCU BCS1L TSEN34 PGAM2 HP_SKELETAL_MUSCLE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKELETAL_MUSCLE_ATROPHY MME LEMD3 PPARGC1A DCTN1 SELENON TAF15 GNE SLC18A3 SFXN4 BBS1 NDE1 TGFB1 EGR2 ATXN3 NEFL PNPLA6 LDB3 CCT5 HARS1 LMNA TK2 SH3TC2 TTN MPZ PAX7 ERCC8 AMPD2 SLC25A19 FARS2 TNXB SPG11 PRPS1 DAG1 HINT1 VCP CHCHD10 IFRD1 NEXMIF YARS1 CHRNE CEP126 MATR3 SPTLC2 TBK1 TRPV4 MYO9A MDH2 VLDLR LMOD3 RBM28 PLXND1 ANXA11 DOK7 ATL1 TDP1 HNRNPA2B1 SLC25A46 PHKG2 BBS9 KIF1B DYSF MAP3K20 DMD SUCLG1 PFKM KBTBD13 POLG FUS SCAPER NDUFA8 PLP1 NAGA CEP290 SLC5A7 MTAP NDUFA12 MYOT AFG3L2 YARS2 GNAS ANO5 CA8 UBQLN2 SLC7A7 AP1S2 TFG HSPB1 MT-TL1 WASHC5 KIF1A MYOD1 PMP22 BVES TPI1 FKBP14 SLC25A1 FHL1 COL6A3 GDAP1 GJB1 B4GAT1 CHN1 KLHL41 AIFM1 SPEG NEFH NEB SGCB NEU1 SLC9A6 PGAP1 FBXL4 DMPK SIL1 NPPA FKRP CAPN1 AARS1 CHAT CHRND SACS CHP1 KIF1C COL4A1 SETX CAV3 TREM2 UNC13A RRM2B PFN1 CRPPA HNRNPA1 CNTNAP1 CHRNA1 DNM1L CCDC115 PDE8B DES KAT6A OPA1 VRK1 SLC39A13 CPLANE1 PSMB8 B4GALNT1 SMN1 TCAP COL6A1 SPTBN4 SLC12A6 SYNE2 DNAJB2 PON2 MYH7 PHGDH TIMMDC1 TBCD EXOSC3 PLEKHG5 PHKA1 MYPN SDCCAG8 C9orf72 SLC25A4 SDHB ERBB4 GFPT1 CTLA4 POMGNT1 FLNC CFAP418 ATP8A2 HK1 SOD1 RAPSN GLE1 ANG KY BSCL2 PRKAR1A SDHA FAM111B KLHL40 DALRD3 LIMS2 LAMB2 RXYLT1 TRIM32 STIM1 CEP19 OGDH NDUFS4 TRAPPC11 RNASEH1 POMT2 PNKP POLR3A RTN2 MT-TE ERGIC1 BBS12 SIGMAR1 CHRNG HEXB NPHP1 ADSL FBXO38 ERLIN2 TARDBP VAMP1 FITM2 VAPB LARGE1 SLC46A1 ACTA1 FLVCR1 HNRNPDL MECP2 BBS5 B4GALT7 BBS7 MAG NDRG1 ALS2 NALCN ERLIN1 PRX REEP1 TTC19 MUSK STING1 TIA1 ZC4H2 SPRTN NIPA1 ZBTB20 C19orf12 DCAF8 SCYL1 IGHMBP2 TPM2 HSPB8 PLEC HSPB3 AGTPBP1 SQSTM1 LRP4 CHRNB1 TNNT1 ATXN2 MTRFR IFT172 GBE1 PEX10 LAMP2 NEK1 ITGA7 NEMF FAM126A FRG1 COG7 VPS13D NGLY1 PRUNE1 GARS1 SPAST GBA2 DGUOK COG8 ALDH18A1 SCN5A SNAP25 DARS2 NDUFAF6 FKTN NUP88 PHYH WDPCP COL12A1 DHTKD1 LTBP4 COQ2 NOTCH2NLC MT-ATP8 SUCLA2 ACADSB WARS2 SALL4 PYCR2 MGME1 TMEM43 JPH1 SURF1 COA7 ATAD3A PEX7 DPM3 KLC2 TBC1D23 ATXN1 UNC45B BIN1 VWA1 GLT8D1 STUB1 HSPG2 STAC3 DYNC1H1 TTC8 DUX4 PIEZO2 PRPH COL7A1 ACTN2 SGCA PRKACA PLOD3 TRIP4 TBCE CUL4B MPV17 HMGA2 SGCD MED25 LITAF KIF5A PDK3 ARL6 CHMP2B LMNB2 CAPN3 NOP56 COL13A1 WDR81 CTNS RYR1 GYG1 SGCG ZFYVE26 INSR SCN4A AGL ADK SLC16A2 GIPC1 CPT1A TPM3 ABCA1 GAN ERBB3 AIP CARS1 PYROXD1 CYP7B1 POMT1 POMGNT2 PIP5K1C HUWE1 GMPPB ACADM PHF6 SYNE1 PUS1 SYT2 VPS13A NARS2 ENTPD1 FBLN5 PNPT1 BBIP1 SEPTIN9 LRSAM1 LZTFL1 COLQ PNPLA2 PHKA2 FGD4 SDHAF1 MYBPC1 FIG4 TTPA KDM5C ASCC1 MTM1 RAB7A SMPD1 COL6A2 MYH3 ADSS1 PYGM UBA1 MFN2 KANSL1 B3GALNT2 KRT14 MYMK SCO2 C2orf69 TBCK PEX6 PON3 OPTN SLC52A2 PEX5 BAG3 KCNK9 SPTLC1 SMN2 INPP5K REV3L RPS6KA3 BBS4 BBS2 AGRN SMCHD1 SDHD NDUFA9 MAFB MTMR2 ASAH1 DHH CFAP410 DNMT3B ACTB IFT27 POLR2A MKS1 POMK BICD2 SCN9A GPR35 UBAP1 DNAJC19 ADARB1 PSAT1 MRE11 SPART INF2 CPT1C IFT74 USP8 MORC2 SLC25A21 TCF4 ATM PON1 KLHL9 TOE1 SOX10 SBF2 ATL3 TYMP YY1 CD28 FXN APTX TNFRSF1B SEMA4D SVBP VMA21 PTEN MKKS CYP27A1 COMP RAI1 AK9 WRN ARSI FUZ FLNA EXOSC8 DNM2 AR MCCC2 BMP1 KRT5 CD59 NBN IBA57 MINPP1 FLRT1 MSTO1 COL2A1 RETREG1 GLB1 CCNF TUBB2B ABHD12 PDE11A AMPD1 ERCC6 SLC52A3 COASY MST1 PTRH2 MYH14 DNA2 SLC33A1 EPHA4 DAO ANTXR2 ATP7A PSMG2 PIK3R2 EMD BBS10 WNK1 LRP12 HP_IMPAIRED_OXIDATIVE_BURST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_OXIDATIVE_BURST CYBC1 CYBB NCF2 RAC2 CYBA NCF1 HP_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL KCTD7 CLN5 TPP1 CLN8 CLN6 CLN3 NDRG1 DNAJC5 HP_DECREASED_ACTIVITY_OF_NADPH_OXIDASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ACTIVITY_OF_NADPH_OXIDASE CYBB NADK2 NCF2 CYBA NCF1 HP_FINGERPRINT_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FINGERPRINT_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL KCTD7 CLN5 CLN6 CLN3 CLN8 DNAJC5 HP_DECREASED_METHYLMALONYL_COA_MUTASE_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_METHYLMALONYL_COA_MUTASE_ACTIVITY PRDX1 MMACHC MMAB MMADHC MMAA HP_DICARBOXYLIC_ACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DICARBOXYLIC_ACIDURIA NDUFS4 ETFDH ABCD4 MCEE ACAD8 SLC25A20 GCDH MMAA ACADS TCN2 SUGCT HCFC1 MMACHC IDH2 MMAB MMADHC SUCLG1 DHTKD1 POLG ACADVL COX16 CPT2 ETFB SLC25A1 LMBRD1 D2HGDH MLYCD ETHE1 ACAD9 ACADM HADH L2HGDH ACSF3 SUCLA2 PRDX1 SLC52A1 ETFA MMUT DNAJC19 SCO1 CD320 HMGCL HP_GENERALIZED_AMYLOID_DEPOSITION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_AMYLOID_DEPOSITION CST3 B2M FGA GSN APOA1 LYZ HP_HYPERGLUTAMINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERGLUTAMINEMIA OTC SLC7A7 COX16 ASL NAGS ASS1 HP_OROTICACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OROTICACIDURIA ARG1 UMPS SLC7A7 ASL ASS1 SLC25A15 HP_ETHYLMALONIC_ACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ETHYLMALONIC_ACIDURIA ETFDH ACADS POLG ETHE1 COX16 ETFA SUCLG1 ETFB HP_ABNORMALITY_OF_CHROMOSOME_STABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CHROMOSOME_STABILITY PALB2 PDGFB BRCA2 FMR1 XRCC2 FANCB FANCI TERT CDCA7 ATM BAP1 TCN2 FANCE RMRP HELLS FANCF SMARCB1 DNMT3B ZBTB24 PMVK FANCG RAD50 FANCA AKT1 FANCL BRIP1 TRAF7 NBN FANCC SLX4 XRCC4 LIG4 BRCA1 FANCD2 UBE2T PIK3CA NF2 SMARCE1 ERCC4 SUFU COX4I1 RAD51 RFWD3 MCM4 BLM FANCM RNF168 SMO MAD2L2 RAD51C HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_CROSSLINKING_AGENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_CROSSLINKING_AGENTS PALB2 FANCE BRIP1 COX4I1 FANCF BRCA2 FANCD2 FANCC FANCI FANCA HP_DECREASED_METHYLCOBALAMIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_METHYLCOBALAMIN LMBRD1 MTRR ABCD4 PRDX1 MTR MMACHC MMADHC MTHFD1 HP_HYPERNATREMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERNATREMIA AQP2 DSG1 ARNT2 AVPR2 FGFR1 SYK SLC5A1 HP_DECREASED_PLASMA_CARNITINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_PLASMA_CARNITINE CPT2 MMP1 ACAD8 CTNS ACADM ACAD9 COL7A1 TRMU GATM NADK2 HADH NDUFAF6 EHHADH ACADVL SCO1 MT-TE SLC25A20 DLD SLC22A5 HMGCL SLC34A1 HP_HYPERMETHIONINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERMETHIONINEMIA FAH CBS AHCY GNMT SLC25A13 TTC37 MAT1A ADK HP_INCREASED_CIRCULATING_IGG_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_IGG_LEVEL PRKCD CASP10 TPP2 PGM3 STING1 FAS FASLG CD247 RASGRP1 IFNGR1 TGFB1 NCKAP1L IL7R PSMB8 IL2RG NLRP1 CCND1 HP_EXTERNAL_GENITAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXTERNAL_GENITAL_HYPOPLASIA KIAA0586 PIGA DUSP6 COLEC10 DIS3L2 PCARE HERC2 SEMA3A EIF2S3 KMT2D BBS1 DPM1 INPP5E MAMLD1 RAB23 KISS1 ANOS1 OFD1 SMAD4 GLI2 IER3IP1 FXR1 MYRF DAG1 DHX37 SPEN ZEB2 SIN3A IFIH1 FAM111A SAMHD1 LMOD3 FGF8 EZH2 KCNA1 NXN KIAA1549 IDH3A DYNC2H1 SAG NR5A1 CCDC141 RAC3 GRIP1 PROKR2 FIG4 BBS9 ZIC2 MKS1 CDON USP7 PRKCZ ACTB CDKL5 TACR3 PLAG1 IMPG2 FANCM TOPORS CEP41 GUCA1B NDN FAT4 SHH ARCN1 SCAPER STXBP1 HESX1 VAC14 IFT88 CEP290 LIG4 CTCF ROR2 MEG3 PROK2 CDT1 FKRP PQBP1 LMNA SIK1 NCF1 FGF17 MEGF8 ERCC2 ERCC4 POLE SPATA7 ATRX LHX4 SETBP1 SOX3 YWHAE SNRPN COG5 DNAJC19 SMARCA2 UBE2A PRRX1 BCL7B B4GAT1 ROM1 KLHL41 DMXL2 ALKBH8 CYP11A1 RAB3GAP2 ARL3 MAPRE2 DVL1 SRA1 POR KDM5C CDC45 WDR35 ORC4 KIAA1109 SRY USH2A ELN MAGEL2 TBCE PDE6G RSPO1 EIF4H COL4A1 LMX1B SPRY4 RAB18 MKKS HMGA2 OTX2 FLRT3 TULP1 CRPPA NEK1 FGFR1 GMPPB CNGA1 POLR1B FSCN2 ECEL1 BRD4 BUD23 DHX38 FBN1 SOHLH1 SNORD116-1 DACT1 CLDN3 PMM2 PTDSS1 ATP6V1A PNPLA6 AR HSPG2 PHGDH KIZ LARGE1 TAF4B RLBP1 TCF4 EHMT1 SDCCAG8 KAT6B SOX9 PWRN1 FKTN NANOS1 DPYSL5 DISP1 PHF6 POMGNT1 STAG1 CFAP418 MKRN3 DCAF17 PWAR1 ADAT3 CYP17A1 SYCE1 POLR1C TUB ISL1 MAP3K1 TOE1 SOX2 KLHL15 GBA2 KLHL40 RBP3 TWIST2 TMEM270 RXYLT1 TRIM32 GHR WT1 CEP19 PDPN UBR1 SIM1 GATA4 RPL10 GPC4 HS6ST1 POMT2 CA4 ARL2BP PHF21A SLC25A24 SC5D BBS12 CHRNG PIGQ RTTN NPHP1 GLI3 EYS TEX14 TCOF1 LSS IFT80 FSHB GPR161 BMP4 PRCD WDR11 BBS5 MBD5 BBS7 TGIF1 RPGR SMO ERCC8 KISS1R METTL27 SIX3 VAMP7 SOX10 CDC6 MADD MAP3K7 PSMD12 CUL4B LMNB2 CYB5A PPP1R12A TSPY1 UBE3B HSD3B2 NDUFB11 XPA GPC3 NR0B1 RP9 LUZP1 OCA2 TMEM216 RFC2 WNT5A XPC ANK1 B3GLCT DDB2 IFT172 FEZF1 FMR1 OGT ALG12 ORC6 DDX6 SLC25A22 PROP1 ZPR1 ALOX12B RNASEH2C SEMA3E CLIP2 SCN2A ABHD11 LRAT OPHN1 RNASEH2A NEUROD2 IGF2 DCC LEP CENPT KDM6A CTDP1 STX1A PRPF8 HGSNAT WDPCP SAMD9 IFT140 FANCD2 AHI1 ACTA1 RIPK4 BEST1 SIX6 NDNF SUZ12 TP63 XRCC2 SNRNP200 RNU4ATAC NEK2 AHR ERCC3 SMC3 POMT1 PTCH1 TAPT1 SMC1A GTF2IRD2 ESR2 RP1L1 TTC8 DYRK1A LZTFL1 CHD4 VPS37D PRKDC CFAP47 TCTN3 EED RNF113A WNT7A GNRH1 EXT2 PROM1 HOXA13 GTF2I HDAC8 BUB1B ARNT2 ARL6 RAB3GAP1 RTL1 HOXD13 MBTPS2 MMP23B C14orf39 MCTP2 C2CD3 UBR7 ROBO1 SMCHD1 IDH3B SPTBN1 FZD2 SGPL1 CDKN1C KIAA0753 FREM2 COX7B B9D2 PIGP TBL2 DMRT3 RGR PRPF31 KATNIP OTUD5 CRX TUBB RYR1 STT3A SATB2 RERE PRPH2 CASK BBS4 FOXH1 ALMS1 DVL3 USP9Y POMGNT2 LHCGR WWOX DPM2 FANCL MNX1 IRF6 REEP6 HUWE1 FOXA2 HCCS CNGB1 NODAL ARHGEF18 DNAJC30 GMNN SEMA4A SALL1 CDH2 KLHL10 SYCP3 CHD7 BBIP1 ADAR FGFR2 NSMF PTPN11 POC1A RAD21 CCNQ BRCC3 SLC39A4 SIL1 POLR1D DHDDS TRIM8 INTU ORC1 ERCC5 MCM8 SLC29A3 TREX1 ZFPM2 NIPBL CUL7 ZBTB16 PNKP CRB1 MAK PBX1 HERC1 DHCR7 UBE4B MYH3 BBS2 PORCN STIL TDRD9 CCDC22 RBMY1A1 UBA1 TBL1XR1 KLHL7 CPE PIEZO2 B3GALNT2 TSPYL1 ALOXE3 LHB PHF8 TBX3 RPE65 XRCC4 POU1F1 KCNJ6 ALX4 PRPF6 RDH12 PRPF4 ARX TBC1D20 TDGF1 RP2 TEX11 DLL1 NECTIN1 FAM161A INPP5K ERCC6 WASHC5 TAC3 SUFU CILK1 GAD1 THOC2 CDH11 GTF2IRD1 KIF7 CFTR FANCB PDE6A RSPO2 IFT27 LEPR DAZ2 POMK DAZ3 DYNC2I1 DHODH PRPF3 SCN1B ATAD3A POLA1 CCDC28B IMPDH1 DYNC2I2 PSAT1 AXL NR2E3 PDE6B IFT74 RHO DCX GNAO1 MEIOB GRIA3 ZMYND15 RNASEH2B ZMPSTE24 ECE1 TOGARAM1 SRD5A2 NEB PEX6 ZNF408 MED12 RP1 STT3B CERKL ARID1B AGBL5 GNRHR GAS1 SLC7A14 ABCA4 DDX3Y MTM1 FANCF IL17RD TEX15 LAT2 KCNAB2 MINPP1 DAZ1 RLIM NRL CYP11B1 MLXIPL CHRM3 CDHR1 ZNF513 LIMK1 SKI FRAS1 TRRAP PEX1 BAZ1B MERTK CLRN1 EBF3 CASZ1 PRDM16 MOGS PAFAH1B1 THOC6 DKC1 FKBP6 NSD1 CLDN4 NPAP1 RAD51C DAZ4 CTU2 GABRD DLK1 SNORD115-1 BBS10 HP_OVERGROWTH_OF_EXTERNAL_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERGROWTH_OF_EXTERNAL_GENITALIA CDKN1C INSR FOS IGF2 PPARG KCNQ1 AGPAT2 KCNQ1OT1 CAV1 BSCL2 CAVIN1 HP_MALE_INFERTILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALE_INFERTILITY CATSPER2 GATA4 ARMC2 CFAP58 SUN5 STRC SPAG17 CFAP221 DNAH1 ODAD2 RSPH4A SPEF2 DDX3Y DNAAF2 CFAP70 XRCC2 DNAH9 MCIDAS NR5A1 ZFPM2 DNAI2 FANCA DNAAF4 LHCGR DAZ2 TTC12 GCM2 DAZ3 SYCP2 DNAAF1 CATSPER1 DNAJB13 CTNS MAP2K1 DAZ1 CFAP300 PTPN11 PPP2R3C CCNO DRC1 CCDC65 SPATA16 FOXJ1 SPAG1 ZMYND10 RBMY1A1 DNAI1 WT1 CYP19A1 NEK10 ODAD1 CFTR SRY VAMP7 DMRT3 RSPH3 DNAL1 CLDN2 DNAH10 TEX11 GAS2L2 PMFBP1 DNAH8 CCDC39 ADGRG2 AR DNAAF6 TSPY1 MNS1 KLHL10 DNAH2 ODAD3 RSPH9 SOX9 AMH DNAH11 DNAAF3 CFAP65 FCGR2A CATIP DNAH17 CCDC40 CCDC103 USP9Y WWOX CFAP47 CYP17A1 M1AP GAS8 TGFB1 BRAF ACTL9 MAP3K1 RSPH1 DNAAF5 NR0B1 BLM DHX37 OFD1 GALT DAZ4 C14orf39 AURKC DZIP1 NME8 DNAH5 ODAD4 RPGR AMHR2 DNAAF11 CFAP298 LRRC56 HYDIN CEP112 TTC29 STK36 HP_ABNORMALITY_OF_DNA_REPAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_DNA_REPAIR ERCC4 TARS1 ERCC2 FANCC ERCC3 RNF113A FANCE DDB2 ERCC6 GTF2H5 XPC FANCD2 ERCC5 FANCA MPLKIP XPA GTF2E2 HP_ABNORMALITY_OF_THE_COAGULATION_CASCADE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_COAGULATION_CASCADE FGG SLC4A1 XIAP ITGA2B HLA-DQB1 PROC GP1BB SPTB ANO6 RYR1 F7 GGCX DPM1 COG8 F12 UNC13D SLC25A13 MCM10 ALG8 GP1BA PRF1 FGB FGA F13A1 VWF GFI1B SERAC1 FIP1L1 F11 EFL1 EPB42 F8 F9 SOS1 ZBTB16 ATP6V0A2 STXBP2 MAP2K1 SLC30A10 PLG HELLPAR AGA NABP1 ITGB3 PROS1 PTPN11 F2 DPAGT1 LMAN1 HSD3B7 GPR35 MCFD2 HADH MGAT2 RARA PGM1 BCOR F13B OSTM1 NBAS NPM1 BCS1L NR1H4 ALG6 SSR4 TRMU HMGCL PMM2 IKZF5 NGLY1 AKR1D1 SLC25A15 MICOS13 SOS2 TCF4 F5 ANK1 STX11 LYST MPI HSD17B10 NLRC4 TFAM GNA14 NBEAL2 MPDU1 CYP7B1 RINT1 COX16 MST1 HAVCR2 TBL1XR1 SLC37A4 STAT5B CACNA1S AHCY F10 GP9 FLNA SRD5A3 ALG12 DPM2 SERPINC1 GNE VKORC1 CFH PRKAR1A ATP6V1E1 SPTA1 LARS1 COG4 ALDOB HLA-DQA1 ACAD9 MTTP BRAF SEMA4D SLC7A7 DDOST PET100 CFI RFT1 LZTR1 ATP6V1A AMACR NUMA1 STAT3 PML IRF2BP2 SERPINE1 CD46 HP_INCREASED_CIRCULATING_IGA_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_IGA_LEVEL PRKCD CASP10 STING1 IKBKG IL12A FASLG CD247 IL12RB1 RASGRP1 POU2AF1 MMEL1 IL7R NLRP1 TNPO3 CCND1 MVK FAS TNFSF15 WAS SPIB IRF5 PSMB8 PGM3 OTULIN HP_SMOOTH_MUSCLE_ANTIBODY_POSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMOOTH_MUSCLE_ANTIBODY_POSITIVITY CASP10 COL4A5 ITCH FAS COL4A6 FASLG CD247 HP_NEONATAL_HYPERBILIRUBINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_HYPERBILIRUBINEMIA GPX1 IYD GYPC TG EPB41 CPOX UGT1A1 SLC5A5 KCNN4 PIEZO1 SPTA1 SLC35A2 PAFAH1B1 TSHB TPO SPTB TSHR SLC4A1 DUOX2 FBP1 DUOXA2 IGF1 UBE2A HP_ABDOMINAL_DISTENTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABDOMINAL_DISTENTION SLC4A1 RRM2B TCTN2 CYP2R1 FOXE1 LMOD1 TMEM251 PAX8 HLA-DQB1 PSAP IL12A GNPTAB SLC2A2 SPTB ARSA FLI1 BMPER SMARCAL1 TNPO3 STX3 RTL1 MYL9 NKX2-5 DDRGK1 WDR35 COL2A1 DYM ITGA6 LRP5 MYH11 SLC26A4 PRKCSH POLG HMBS DYNC2I1 STAT4 EPB42 KRT8 NKX3-2 SMPD1 VDR EWSR1 IL12RB1 IFT80 INSR BRCA1 SEC63 NPHS1 IRAK1 KIAA0753 COL11A2 SLC37A4 DYNC2I2 POLG2 SLC9A3 FBN1 TSHR KAT6A FREM2 KRT18 LIPA PSMB8 SPP1 DYNC2H1 EPHB4 SLC5A1 SLC26A2 RET TRMU EPCAM MTOR ACTG2 COL11A1 ATP1A2 ANK1 FLNA C2orf69 GBA MMEL1 CYP27B1 TRIP11 MESP2 WT1 TNFSF15 MNX1 SLC26A3 MEG3 IRF5 ALAD ALG8 NKX2-1 SPTA1 ITGB4 SLC1A3 SPINT2 DLL3 IFT122 GNE CACNA1A PYGL ALDOB HLA-DQA1 POU2AF1 FLNB ATP1A3 TYMP SAR1B G6PC1 TTC7A SI FSHR SPIB MYO5B INPPL1 ZEB2 DLK1 MYLK PTH1R IFT52 PLEC HP_HIP_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIP_CONTRACTURE SPEG LGI4 PIGY RNU4ATAC ERLIN2 HACD1 GNPTAB GNB2 ACTA1 NALCN TPM3 GARS1 SELENON ZBTB20 HSPG2 KAT6B P4HTM RYR1 ERGIC1 SLC10A7 FBN2 UNC80 BIN1 MYH3 NSD1 PNPT1 PTH1R ZC4H2 FKBP10 MYL2 TPM2 TELO2 TNNT1 TTN F8 BICD2 COL2A1 MYLPF SETD2 APC2 TRPV4 SLC26A2 MAP3K20 MMP2 MAP3K7 SLC6A9 HS2ST1 UBA1 ITGA7 HP_NARROW_PELVIS_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_PELVIS_BONE PTH1R IDUA PCNT RSPRY1 BMPER BGN POR FGFR2 HP_LOW_ALKALINE_PHOSPHATASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_ALKALINE_PHOSPHATASE BCR SLC39A4 LIPA ABL1 ALPL PIGS CEBPE PIGT PIGK HP_CYSTATHIONINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYSTATHIONINEMIA CTH MTHFR PRDX1 LMBRD1 MMACHC HP_SPINA_BIFIDA_OCCULTA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINA_BIFIDA_OCCULTA TBC1D24 RORA BAZ1B GTF2I DLL3 LFNG MAFB BMP2 MAP3K7 CCNQ GTF2IRD1 RIPPLY2 CLIP2 BRAF CREBBP LIG4 COLEC11 ABHD11 AMER1 FIBP RAB23 COLEC10 ZIC1 CHRNG RAF1 MYH3 ELN PUF60 WBP11 KCNH1 ACTB GTF2IRD2 RUNX2 TBX6 CUL7 EIF4H CCBE1 FLNA MESP2 LAT2 IRF6 VANGL2 IKBKG STX1A NCF1 RFC2 FKBP6 DARS1 NSUN2 VANGL1 CLDN4 DNAJC30 B3GLCT VPS37D POLA1 FLNB MLXIPL MASP1 CCL2 HES7 PORCN FUZ BUD23 TNXB SALL4 EP300 DACT1 TMEM270 METTL27 BCL7B TBL2 NEK9 PTPN11 RECQL4 ARID1B LIMK1 TBXT CLDN3 CHN1 ATP6V1B2 NOTCH2NLC HP_OVOID_VERTEBRAL_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVOID_VERTEBRAL_BODIES MIR140 NPR2 GLB1 B3GALT6 ABCC9 SRP54 POP1 IHH GALNS COL2A1 KCNJ8 TBX15 GNPTAB UBE3B SMARCAL1 PCYT1A FBN1 NAGLU COMP SLC35D1 FN1 GNS SBDS ARSB SGSH MATN3 HGSNAT DNAJC21 LTBP3 HP_IRREGULAR_VERTEBRAL_ENDPLATES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRREGULAR_VERTEBRAL_ENDPLATES COL9A1 TNFRSF11A COL11A1 COL2A1 MMP13 RNU4ATAC TRAPPC2 POLR3A ZBTB20 PDE4D CHST3 B3GALT6 CCN6 GORAB COL9A2 LOXL3 COL10A1 SLC10A7 GNPAT COMP NANS COL9A3 ACP5 KIF22 SLC29A3 TCIRG1 EXOC6B SLC39A13 EIF2AK3 PAPSS2 HP_SPONDYLOLISTHESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONDYLOLISTHESIS MAN2B1 KANSL1 MYH3 SMAD3 RUNX2 BMP2 IDUA PABPN1 AGA TGFB2 FBN1 ZNF469 TGFBR2 CTSK COL2A1 TGFB3 LMX1B HP_SPONDYLOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONDYLOLYSIS AGA FLNA CTSK FLNB RUNX2 LMX1B HP_SPINAL_RIGIDITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINAL_RIGIDITY TPM2 COL13A1 ERLIN2 NEB MYH7 TOR1AIP1 CFL2 SELENON ACTA1 CAPN3 SLC18A3 PYROXD1 MYPN HSPG2 MYBPC1 KBTBD13 VAMP1 TRIP4 FHL1 SNAP25 CHAT LMNA SYNE1 ORAI1 POMT1 COL6A2 KLHL41 COL6A3 COL2A1 SYNE2 INPP5K BAG3 KY AGRN COL12A1 ACVR1 DES TMEM43 SYT2 MYO9A POMT2 CAVIN1 TTN FKTN SLC25A1 SLC5A7 TPM3 MGME1 EMD LMOD3 COL6A1 TNPO3 DYSF HP_HYPERLORDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERLORDOSIS TRAPPC11 TRPS1 NF1 GTF2I IARS2 GNB2 ALX3 BCOR CFL2 TRAPPC2 COL12A1 GTF2IRD1 TPM3 KNSTRN MYBPC1 DDRGK1 DNMT3B CAPN3 OBSL1 FGFR3 ITCH LMX1B MYL2 VCP NSDHL GALNS FKRP SGCG KANSL1 GNPTG ACTA1 POMT1 BICD2 SCN9A TMEM43 TRPV4 SLC26A2 COL11A2 PPM1D DAG1 CSGALNACT1 METTL27 DMD TBL2 XYLT1 COMP FGFR2 COL10A1 SMCHD1 LMOD3 SYT1 DYSF RAB3GAP2 CLCF1 HACD1 GLB1 PPP1R15B SATB2 MAP3K20 ZC4H2 IHH DYM MYPN SON HSPG2 COLEC11 MATN3 GMPPB SLC10A7 COLEC10 RSPRY1 MED12 TOGARAM1 ARSB TOR1A BIN1 TFAP2A TPM2 FHL1 SYNE2 COL1A2 NCF1 MTMR14 POP1 RFC2 TTN COL2A1 DNAJC30 CCDC8 CRKL BCR FN1 BCL7B ALG2 SELENON FRG1 LMNA ITGA7 SPEG RERE L1CAM ALG14 GARS1 DNA2 SHOX CLIP2 SMARCAL1 POMGNT1 RMRP ABHD11 PCGF2 DNM2 FUCA1 POMT2 ELN SYNE1 EIF2AK3 KLHL41 CUL7 ACAN EIF4H MYH7 LAT2 VPS13B STX1A INPP5K SCN4A KY PLEC HERC1 COL6A2 KIF1A MASP1 MMP13 CAVIN1 ECEL1 CANT1 FBN1 BUD23 RETREG1 SOX5 BGN MAPK1 NEB MFN2 TGFB1 HNRNPA2B1 PIK3CD LIMK1 CLDN3 HNRNPH2 NPR2 HNRNPA1 BAZ1B DPAGT1 SETD5 PIEZO2 HACE1 PLEKHG5 VPS33A CCN6 POLR3GL LAMA2 PIK3C2A RYR1 POMK AMER1 COLQ ADAMTS10 NOTCH3 NAA10 ACP5 GTF2IRD2 TBX6 COL6A3 TONSL EXTL3 SGCA GFPT1 DUX4 CTSK FKBP6 CLDN4 FLNB CHST3 VPS37D MLXIPL TWIST1 RAB3GAP1 NECTIN1 RET TMEM270 FKTN EMD WNK1 COL6A1 HP_CERVICAL_SUBLUXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CERVICAL_SUBLUXATION FLNB IDUA GLB1 DDR2 COL2A1 ARSL MADD GALNS MMP2 RMRP HP_ABNORMALITY_OF_THE_ODONTOID_PROCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ODONTOID_PROCESS DYM TRPV4 RAB33B DLL3 GLB1 LONP1 COMP FGD1 GALNS GUSB TRAPPC2 GNPTAB FLNB COL2A1 IDUA COG4 DKK1 FLNA HES7 NFIX MESP2 DDR2 AIFM1 BGN RMRP ARSB EIF2AK3 LFNG FN1 EXTL3 NMNAT1 HP_HYPOPLASIA_OF_THE_ODONTOID_PROCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_ODONTOID_PROCESS DYM TRPV4 RAB33B GLB1 LONP1 COMP FGD1 GALNS GUSB TRAPPC2 GNPTAB FLNB COL2A1 IDUA COG4 NFIX DDR2 AIFM1 BGN RMRP ARSB EIF2AK3 LFNG FN1 EXTL3 HP_ABNORMAL_FORM_OF_THE_VERTEBRAL_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FORM_OF_THE_VERTEBRAL_BODIES ATP7A RNU4ATAC COL11A1 GTF2I SLC35D1 B3GALT6 SIX3 TENT5A LFNG KCNJ8 SH3PXD2B FBN1 SUFU TRPV4 TRIP11 FGFR1 RTL1 DDRGK1 MBTPS2 GORAB COL2A1 OBSL1 SMAD4 MRPS28 ARSL GPX4 SGMS2 ZIC2 TNFRSF11A RAB33B GALNS MAN2B1 XYLT2 DMP1 PRKAR1A AGA PYCR1 FGFR3 FLNB OCRL SUMF1 ARL13B COG4 HES7 SC5D COL11A2 AIFM1 GNPAT INPP5E CSGALNACT1 CHST3 SFRP4 TBL2 RPL13 CBY1 ARL3 LTBP3 COL9A1 MIR140 NF1 LRP5 TCTN1 OTUD5 AKT1 CANT1 MIA3 GUSB CTBP1 NOTCH3 COG1 TBX15 AIP GLI3 HSPG2 LOXL3 SHH RSPRY1 RINT1 MADD NANS MEG3 ARSB PEX7 FGFRL1 MESP2 CPLX1 LBR RUNX2 VANGL2 GLB1 PTCH1 NCF1 TMEM237 TBX6 POP1 KIAA0586 ATRX CEP120 VANGL1 PUF60 DNAJC30 RIPPLY2 CCDC8 DISP1 CFAP410 GNS PPIB SLC26A2 FGF8 CHD7 ANTXR1 FLNA BCL7B ADA MPL CHN1 ENPP1 NOTCH2NLC DYM SOX2 B3GAT3 AHI1 PDE4D DVL1 ORC1 POR PTCH2 TCTN2 CDK10 FUCA1 ELN KIF22 WBP11 EIF2AK3 NOTCH2 CSF1R KMT2D TCIRG1 CUL7 EIF4H FN1 MMP13 ABCC9 NEK1 JAG1 ZBTB20 FUZ COL9A2 COL10A1 STIL BUD23 CCDC22 PLEKHM1 PLOD1 HHAT PIBF1 STAG2 SLC39A13 GLI2 CLDN3 ACAN DNAJC21 SOX5 NPR2 PMM2 TBC1D24 SERPINF1 COL1A2 B9D1 CCN6 IKBKG CLCN7 DDR2 IDH2 VDR FKBP10 TONSL EXTL3 SKI P3H1 CSPP1 KDM6A PLOD2 CHRNG LETM1 CAPN15 PAM16 SEC24D TBXAS1 B3GLCT MAP3K7 CCL2 COL1A1 EIF5A P4HB FZD2 RPS6KA3 WASHC5 TMEM270 SLC29A3 GLE1 HAAO MMP2 KYNU TBXT NMNAT1 NSD2 LONP1 CDH11 MAFB TRAPPC2 GTF2IRD1 RAI1 ARMC9 DEAF1 INPPL1 SLC25A24 IDH1 ROR2 FLII COMP SBDS SERPINH1 HYLS1 FOXF1 EXOC6B IFITM5 HGSNAT ITCH ANKRD11 MYH3 FANCC NELFA ERF WNT5A NAGLU CEP104 TMCO1 METTL27 CBS SEMA3E SEC23A GJA1 XYLT1 FGFR2 ATP6V1B2 PTH1R USP8 TBX2 DLL3 RAD21 ACP5 PPP1R15B IHH UBE3B SON PLCB3 PTEN SLC10A7 HDAC6 WNT1 THPO RFC2 UFSP2 APC EBP MKS1 ALG12 LRP4 CYP27A1 IFT43 PIGG PAPSS2 TMEM251 KDELR2 DHX37 SRP54 SMOC1 CLIP2 SMARCAL1 RMRP ABHD11 BMP1 LAT2 HSPA9 STX1A ACVR1 NEU1 NEPRO PCYT1A CPLANE1 BGN KATNIP CEP41 SALL4 MATN3 LIMK1 IQSEC2 SIX6 MMP14 BAZ1B TMEM67 POLR3A GNPTAB DVL3 DHCR7 TAPT1 SGSH FLI1 GTF2IRD2 SPARC RPS19 SOST FKBP6 CLDN4 PIEZO2 IDUA VPS37D MLXIPL TWIST1 PLOD3 COL9A3 FANCB DLK1 SF3B4 ALPL WNT7A HP_BUTTERFLY_VERTEBRAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BUTTERFLY_VERTEBRAE SC5D OTUD5 KDM6A TBX6 SOX5 ALG12 CSGALNACT1 COG1 FOXF1 WBP11 HAAO STAG2 SOX2 RIPPLY2 ARSL KMT2D SIX6 HP_ABNORMALITY_OF_THE_CERVICAL_SPINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CERVICAL_SPINE SHOX ERCC2 TCTN2 KIAA0586 SLC35D1 HDAC8 B3GALT6 PIGA BUB1B SIX3 LFNG CFL2 KCNJ8 ADA2 KRAS TRPV4 BBS1 ARL6 INTS1 FGFR1 TECPR2 BMPER AMMECR1 RTL1 MAN1B1 TRMT10A DDRGK1 APC RAB23 GNAS TPM2 ALG9 IDUA OBSL1 OTUD6B MRPS28 ARSL DCC ANTXR2 SOX9 ZIC2 BRAF RAB33B GATA1 FAM20C GALNS MAN2B1 MAP2K1 SMAD3 XYLT2 STX16 GDF6 FLNB MGAT2 MECP2 POU1F1 NUP188 AIFM1 ERCC1 NXN RPS27 ATP6V1B2 EP300 MAP2K2 MIR140 PIGN COL11A1 BBS9 GUSB NOTCH3 COG1 MKS1 SATB2 IGBP1 ACTB MYH3 TUBB RPS20 HSPG2 SHH WNT4 DVL1 LHX3 RSPRY1 SCAPER MADD STXBP1 NANS BRF1 PPP1CB CEP290 ROR2 MEG3 UNC80 MED12 DVL3 RPS29 MESP2 FANCL RPS10 TBX6 POP1 FOXA2 POLE RPL26 COL11A2 TRIP11 PUF60 RIPPLY2 MYLPF CHST14 CCDC8 DISP1 RFT1 SRCAP CEP55 SETBP1 YWHAE MMP2 COG5 GNS SLC26A2 FGF8 CD96 BBIP1 COL6A3 PTPN11 MPL RPS24 CHN1 RAD21 TALDO1 SEC24C TBL1XR1 SLC2A1 LZTFL1 B3GAT3 RPL27 FANCI SCYL2 COMT DONSON INTU MAPRE2 PSAT1 ATRX JMJD1C PGAP1 ACTG1 DYRK1A PTCH1 PGAP2 FUCA1 EFNB1 SHOC2 NOTCH2 AEBP1 NIPBL KLHL41 CUL7 ACAN RAF1 LMX1B COL2A1 HRAS NKX3-2 SOS1 PROP1 PTPN22 FGFR3 ABCC9 TOR1A HESX1 RPL15 GMPPB BPTF ECEL1 STIL BRD4 CANT1 CCDC22 HIRA GLI2 PIEZO2 CREBBP PTPN2 TBX1 LHX4 CLDN11 GPX4 SOS2 NALCN GLE1 LARGE1 KIF7 TBX15 TCF4 SDCCAG8 TBCK GPKOW NEB RPL31 DDR2 SMC1A ERMARD ALG8 ZC4H2 KCNN3 CFAP418 EXTL3 ADAT3 MED13L CHRNA1 TBR1 KIFBP PHGDH ARVCF PAM16 KCNH1 B3GLCT KNSTRN FGD1 MRPL12 CBL NEK9 RREB1 FZD2 LZTR1 WASHC5 BBS4 BBS2 TRIM32 NF1 RPS17 CEP19 COL6A1 HS2ST1 TENT5A RPS28 SMPD4 GPC4 RPS15A CDH11 MAFB CCN6 EXOSC9 MEOX1 PIGL TRAPPC2 RPL18 INPPL1 ESCO2 DOK7 FANCB DYM GATA4 BBS12 C2CD3 RPL35 PIGV RPL35A EXOC6B COL6A2 AP5Z1 IFT27 IDS NPHP1 SMC3 CHST3 GLB1 GNPTG WNT5A BMP4 TSR2 HPDL UBE2A BBS5 PIGY BBS7 CDK5 FTO TMCO1 MAPK1 ALDOA FHL1 XYLT1 IFT74 LMOD3 CUL4B MUSK TBX2 DLL3 HDAC4 TRAPPC9 ANKRD55 RPL5 PKDCC ERCC6 PPP1R15B GPC3 CTNND2 TFAP2A CHRND DSE TGDS RPS26 FKRP AFF3 DPYD COMP THPO PIGW HBA2 MSL3 TAF1 EBP ROBO3 IFT172 FN1 PRMT7 PSMD12 WAC MKKS CHRNG SEMA5A POGZ CD247 PGAP3 TGFB3 COG7 PALB2 RB1 KDELR2 DHX37 NLRP1 POMT2 LIFR SMAD4 RDH11 SMARCAL1 RMRP PIK3CD NRAS WDR35 MEGF8 IL2RB IL2RA NUP88 FGFR2 NBN HSPA9 MBTPS2 WDPCP COL12A1 SPRED1 RPS19 HES7 RPS7 MYO18B GZF1 TGFBR1 SALL4 ANKRD11 NBAS SF3B4 RPL11 POLR3A PIGO VPS33A UFD1 RNU4ATAC OTX2 SNRPN TNNT3 RIPK4 FBN2 GDF3 HBA1 TNNI2 DHCR7 ACTA1 WNT7A TAPT1 FLI1 GP1BB PAFAH1B1 OFD1 STAT4 POMT1 SKI ERCC5 TTC8 CRLF1 CTDP1 GPC6 DLK1 EMD BGN BBS10 RIT1 HP_C1_C2_SUBLUXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_C1_C2_SUBLUXATION IDUA DDR2 COL2A1 ARSL MADD MMP2 HP_PROGRESSIVE_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_MUSCLE_WEAKNESS POLG2 SPEG COQ2 PEX10 HACD1 MYOT PHKG2 PEX19 MT-TN ACTA1 TPM3 PNPLA2 PRPS1 TRAPPC11 CRYAB TBCK MT-TE RYR1 PEX13 LDB3 POLG ABHD5 PHKA2 SIL1 PEX3 BIN1 VAPB MIEF2 MT-TS1 SELENON MYH7 PEX1 PEX12 PCNA PLEC ANO5 COL6A3 MYL2 DYSF TPM2 YARS2 PEX16 PEX26 NEB DMD PEX14 TNNT1 TTN COL12A1 LTBP4 DES PUS1 PYGM PEX2 MAP3K20 TPI1 PEX6 GIPC1 TWNK TK2 COL6A2 MT-TL1 MT-TL2 COL6A1 PEX5 PEX11B ITGA7 HP_GENERALIZED_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_MUSCLE_WEAKNESS VCP COLQ MYL1 PPARGC1A SELENON KCNJ1 RYR1 COL12A1 SLC12A1 TAF15 CAPN3 SLC18A3 TPM3 CHRNA1 LMOD3 PLA2G6 SQSTM1 HADHA AIFM1 COA8 MEN1 LDB3 CHMP2B EGF CFAP410 POMT2 SDHAF1 FKRP SNAP25 YY1 CHAT ATXN2 C9orf72 ACTA1 ORAI1 COL6A2 POMT1 CHCHD10 SLC25A4 MYL2 TREM2 FKTN UNC13A TARDBP NEB TTN FIG4 VAPB FGF23 AGRN DSE PLEC HNRNPA1 MATR3 TBK1 MYO9A CAVIN1 HADHB KLHL41 CHRND ANXA11 CRPPA ACY1 CCNF AARS2 UBA1 PFN1 MYH2 DCTN1 HACD1 PON2 DNAJB6 ANG MORC2 FXYD2 PON1 SLC16A2 MYH7 SOD1 CCND1 SLC12A3 VAMP1 PLOD1 TPM2 GLE1 PIGN PON3 SDHB SLC2A3 POLG RANBP2 GLT8D1 OPTN ERBB4 COL13A1 ABCB6 EPHA4 UBQLN2 DAO CLCNKB ACAD9 NEFH FUS SDHA PRPH HTT PNKD POMGNT1 SYT2 MAP3K20 LAMB2 SLC25A1 MTM1 NEK1 TK2 COL6A3 ATP13A2 SLC5A7 GAA CNNM2 COL6A1 PRRT2 SDHD ITGA7 HP_LIMB_GIRDLE_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_GIRDLE_MUSCLE_WEAKNESS OPA1 AK9 POMT2 ALG14 SGCB CFL2 SLC18A3 TPM3 PNPLA2 DNA2 GNE POLG DGUOK ALG2 MT-TE DMPK LDB3 ABHD5 MYOT FKRP SNAP25 CHAT CHRND DNAJB6 COL13A1 KLHL41 MYH7 MYL2 MATR3 CHRNB1 GYG1 AGRN SCN4A POMT1 HNRNPDL LMNA TRIM32 CHRNA1 GMPPB TPM2 TTN MYO9A POLG2 RAPSN CRPPA SMCHD1 RYR1 DOK7 LMOD3 TNPO3 FLNC DPAGT1 HACD1 MORC2 ACTA1 FRG1 COL6A1 CRYAB VCP CHRNE GALC LARGE1 NEB COL6A2 DPM3 ANO5 VAMP1 SELENON MTAP PLEC COL6A3 MUSK DYSF GFPT1 TWNK LRP4 COL12A1 SYT2 BICD2 SGCA DAG1 RRM2B MAP3K20 BVES SLC25A4 SLC25A1 PSAP SLC5A7 ITGA7 HP_MYALGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYALGIA POLG2 SLC4A1 PPARG TRAPPC11 RAD51 NLRP3 LEMD3 UBAC2 SPTB RNASEH1 HLA-DPA1 LMNA PTPN22 NTN1 PYGM KIT MT-TE CAV3 SVIL MT-TK MEFV CAPN3 CCR1 KLRC4 POMT1 C4A OTULIN EPB42 FAS HADHA MSTO1 P4HA2 NLRP12 FKRP MYOT ZNF469 CLCN1 DNASE1L3 SCN4A DMD LMNB1 ENO3 HADHB MYH7 LBR MYF6 CRPPA PDGFRA TLR4 MLX ASXL1 VCP SCN9A PGAM2 RBCK1 GLA STING1 HLA-B PHKG2 ACP5 ANK1 ANKRD55 DOLK NLRC4 MT-TL1 CTNNB1 HSPG2 HLA-DRB1 ANO5 ACADVL FMR1 ALMS1 MIEF2 TNFRSF1A STAT4 ALDH4A1 IL12A-AS1 RYR1 ADA2 MVK AMPD3 DYSF HLA-DPB1 ACADM NOD2 ACAD9 TET2 RRM2B ERAP1 BVES TNXB SRSF2 SLC25A4 TK2 SLC12A3 MTMR14 CD247 SEC24C PRTN3 CLCNKB COMT ORAI1 CPT2 IL23R PNPLA2 DNA2 JMJD1C DCC POLG DGUOK CNBP BIN1 DMPK LDHA PHKA2 IL2RB IL2RA FDX2 FKTN LPIN1 DNAL4 KY DSE TRIM32 DNM1L IL12B CAVIN1 SDHA STIM1 TWNK OPA1 HIRA LPIN2 CR2 MDM4 FLNC PTPN2 TBX1 PRDM5 AMPD1 HPDL IL10 MATR3 POLR3A APC IL12A PHKA1 DNM2 CASQ1 UFD1 TMEM126B EXT1 VWA1 CHCHD10 GP1BB ALDOA SPTA1 CCDC78 ARVCF MTTP COX6B1 PGK1 RREB1 CTLA4 EXT2 HP_AXIAL_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AXIAL_MUSCLE_WEAKNESS POMT1 NEB FKRP MYH7 COLQ MT-TN POMT2 RYR1 CFL2 SELENON COL12A1 SPEG BICD2 DES LARGE1 CRYAB KLHL40 GMPPB TPM2 MYBPC1 LMOD3 TTN ACTA1 LAMB2 UNC45B COL6A2 MT-TS1 MT-TL1 BIN1 KLHL41 COL6A3 MT-TL2 LMNA COL6A1 HP_ABNORMAL_HAIR_LABORATORY_EXAMINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HAIR_LABORATORY_EXAMINATION MPLKIP SKIV2L ERCC3 ST14 PEX6 ASL LMNA WRN TTC37 KRT85 SPINK5 TARS1 GTF2E2 ERCC2 TCHH NECTIN1 HRURF GTF2H5 TGM3 DSG4 PADI3 TP63 RNF113A NECTIN4 BCS1L KRT25 HEPHL1 CLCN6 CDH3 PEX1 GAN HP_ABNORMAL_BONE_STRUCTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BONE_STRUCTURE ATP7A RNU4ATAC TRPS1 COL1A1 NRAS LEMD3 BUB1B TENT5A FAT4 SH3PXD2B SUFU HERC2 SEMA3A TRPV4 CLCN5 HPGD TRIP11 TGFB1 BMPER GJB6 KLF1 TRMT10A DDRGK1 AGXT CDKN2B TAF13 KISS1 FOS GNAS LAMB3 PLEKHM1 GORAB ANOS1 CBL STN1 ARSL CHEK2 PHC1 CENPJ DHCR24 METTL5 B3GALT6 ANKH IER3IP1 MATN3 BRAF PYCR2 GALNT3 AGPAT2 TNFRSF11B PEX3 XYLT2 ITGB4 KRAS STX16 BAAT FLNB GJB2 ACVR1 CTSK PEX12 EXT2 FAM111A AKT1 TSHB POLG2 HGD SC5D FGF8 POU1F1 ASXL2 LMNA DYNC2H1 ERCC4 TNFRSF11A CRTAP HBB SLC34A1 MIR140 SDHC NGLY1 CANT1 CREB3L1 PHKG2 SRP54 FIG4 CTBP1 NOTCH3 TACR3 GLI3 CYP27B1 TREM2 PARN STAT6 NDN TRAPPC14 SIK3 SALL4 CDH23 RSPRY1 ATP6V0A4 FZD4 VAC14 NAGA ZNF699 CTCF MEG3 GPC3 PROK2 MTAP PEX7 LRP4 STAT3 ERCC2 LAMC2 PHEX CALCR GLIS3 SLC7A7 NCF1 FGF17 POLE PCCA GUSB CYP3A4 ALPL PDGFRB UROD HNRNPK COL9A3 PEX19 RRM2B SETBP1 AEBP1 SNRPN FKBP14 HLA-DRB1 PPIB MAP2K1 FLNA BCL7B PPARG PTCH1 RECQL4 HNF4A CYP11A1 IYD B3GAT3 BUB1 NOP10 NEU1 DCHS1 BRCA2 COG1 MPLKIP FAH CYP27A1 WDR35 HSD17B4 CDKN1B IL1RN SH3BP2 GSC ELN KIF22 ADAMTS2 MAGEL2 TBCE TCIRG1 EIF4H ALDH18A1 SPRY4 FLRT3 NKX3-2 CASR SLC34A3 TINF2 MMP13 CA2 TMEM38B POLR1B SLCO2A1 FGFR1 TARS1 BUD23 MTX2 PDE8B RUNX2 SDHD OSTM1 SNORD116-1 LPIN2 CDK5RAP2 SLC39A13 CLDN3 SLC39A8 CEP290 IGF1 MDM4 PMM2 PTDSS1 LHX4 IQCB1 FANCB FGFR2 NPR2 COL1A2 GATM PHGDH SLC26A2 CCN2 CCND1 GCM2 CDC73 PDE4D CLCN7 SOX9 SMPD1 ZMPSTE24 AMER1 DDR2 TMEM165 PWRN1 ADAMTS10 VDR IRF5 SATB2 LRP5 SPIDR DUSP6 MKRN3 PWAR1 P3H1 NT5E POLR1C CDKN2C PLOD2 KCNH1 PEX10 MTTP PRKAR1A MAP3K1 UNC45A SEC24D CDKN1A GDF5 TBXAS1 COL2A1 TPO CAV1 ADCY10 G6PC1 BRCA1 TMEM270 DMP1 SLC29A3 GLE1 LFNG ASXL1 RAD51C SIM1 GATA4 RPL10 ZNF408 BUB3 HS6ST1 KCNJ1 TRAPPC2 STX3 PTEN PEX1 PHF21A KIT SDCCAG8 ENPP1 COMP SBDS PEX26 SERPINH1 AKR1D1 NFIX WNT1 PROKR2 FKBP10 NSDHL HBG1 TCOF1 SLX4 ATP6V0A2 CHST3 NELFA IFT80 SQSTM1 TNFSF11 AIP POF1B GBA IFT43 CYP2R1 MGAT2 B4GALT7 PTH1R ERCC8 KISS1R EED TMEM67 RNF113A METTL27 CBS MAFB PEPD VAMP7 SOX10 PEX16 PIGL SEC23A COL10A1 GLA ATP8B1 FARSB MEN1 HECW2 MAP3K7 SLC34A2 CEP152 ZBTB20 PEX5 SASS6 TP53 SLC10A7 BMS1 DUOX2 CYB5A PLOD1 ASPM TNFSF15 ERCC3 HESX1 PRLR SLC37A4 PAPPA2 WDR19 B2M THRB MMP1 IKBKG OCA2 PYGL THPO DNAJC21 RFC2 RB1 TRIM37 ELP1 VCP SLC4A1 UBE2T TAF1 EBP USP8 CTSC GALT RAD51 IFT122 FN1 ALG3 HRAS NOTCH2 USF3 SCARB2 ORC6 NR5A1 PIGG PROP1 SLC2A2 MC4R DLX3 CLIP2 SMARCAL1 TNPO3 GGCX FANCE RMRP ABHD11 PDE11A PIGT LETM1 NHP2 MFSD2A IFIH1 DCC POLD1 NLRP3 FANCI CEP135 COL3A1 MBTPS2 STX1A MITF BMP2 IL12RB1 BTNL2 SAMD9 DLL4 SNRPB COL5A1 ESR1 FANCL CCR6 GZF1 PDLIM4 BGN SETD2 CYP17A1 MMP14 PIGY SDHB HBG2 ABCC9 NDNF RIN2 GNPTAB CTNNB1 GLI2 KNL1 ALG9 KDELR2 WDR11 EXT1 FBN2 SNX10 SLC25A24 WRAP53 UROS ANO5 CSPP1 PCCB SP7 AP2S1 TAPT1 SGSH GTF2IRD2 TGFBR2 ESR2 SOST HSPG2 KL SKI ARMC5 RNF125 RETREG1 ERCC6 CIT POU2AF1 COL7A1 HDAC6 ANAPC1 VPS37D ELANE CTDP1 PRKACA PLOD3 IDH2 SPIB FANCD2 ATL3 WNT7A TRPV3 GNRH1 HOXA13 NF1 HMGA2 PEX6 GTF2I SLC35D1 IARS2 KCNJ8 AGPS LRP6 FBN1 SLC12A1 WRN ATP7B GNA11 GJA1 NDUFAF6 RTL1 TERT SOX3 TRPV6 ANKLE2 RSPO2 GEMIN4 CRIPT SGMS2 ANTXR2 CAVIN1 HFE P4HB FAM20C CTNS BANF1 GALNS MAN2B1 PYCR1 ZNF469 OCRL MGP DCAF17 GNPAT SFRP4 TBL2 MCPH1 GPC4 DMRT3 RFWD3 NPHP4 KLLN CCDC141 MIA3 SLC35A2 SMS HHAT PORCN LHX3 DKC1 TRAF3IP1 FGFRL1 WWOX DPM2 CPLX1 LBR WNT3A PLS3 KIAA0586 FOXA2 FSHR COL11A2 TET2 DNAJC30 NDP SLC9A3R1 COL5A2 MMP2 SRSF2 CHD7 ANTXR1 KIF14 NSMF GTF2H5 MPL WDR62 PSMC3IP DYM HLA-DQB1 IL12A POLR1D SLC5A5 UFSP2 ORC1 NAB2 KIF7 TSHR STAT1 GPAA1 PHKA2 SLC10A1 EIF2AK3 CSF1R ZFPM2 RUNX1 IDH1 FGF23 FANCA DPAGT1 IFT52 DHCR7 DKK1 CEP63 PIK3CD BSCL2 SCN9A PTCH2 MTRR HNRNPA1 ARL6IP6 ABCC6 GPX4 PIGU INVS APC SRC CCN6 EHHADH GTF2E2 TBCK PEX2 USP9X TONSL FANCF PEX14 CHRNG CTC1 NR0B1 AGA PSAP KNSTRN FEZF1 NCAPD3 NDUFAF1 TAC3 ALX4 NSD2 LONP1 GFI1 GTF2IRD1 INPPL1 TYROBP OFD1 NUP107 ELMO2 TERC PIGV IFITM5 HGSNAT LMX1B RAB3GAP1 DYNC2I1 EXTL3 GPR35 SLC39A14 NAGLU ADAMTSL2 DYNC2I2 PSAT1 WT1 WNT3 SYK SRY SEMA3E XYLT1 LIFR CDK6 PIK3CA GLB1 IRX5 LARS2 XRCC2 TCF4 IHH PLCB3 GATA1 TJP2 BMPR1B CTNND2 INTU ALB AFF3 FANCC MRPS22 SEMA4D KIF1A EFL1 DDOST NPM1 LAMA3 GK MALT1 SLC25A4 SEMA5A NPHP3 PLEC MAD2L2 LEMD2 STIL PEX11B SMARCD2 POLG COPB2 SLC17A5 UNC80 POLR3H IL17RD GNRHR BMP1 COX4I2 FUT8 LAT2 RPL11 TG BNC1 HSD3B7 PISD HJV WNK1 FERMT3 MLXIPL CYP19A1 HNRNPA2B1 LIMK1 PRDM5 BAZ1B CEP164 POLR3A AVP MMEL1 SLC25A19 SEC23B PERP OTX2 RTEL1 CEP57 DUOXA2 MST1 ACP5 VPS53 PEX13 USB1 HAMP ALG12 BMP15 SPARC TSPAN12 TWNK AIFM1 CD96 VPS35L SMAD3 HLA-DQA1 FKBP6 CLDN4 NPAP1 NPHP1 MBTPS1 TRIP13 DHX37 FANCG ASAH1 BRIP1 DLK1 SNORD115-1 FANCM PALB2 HP_ABNORMAL_ENCHONDRAL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ENCHONDRAL_OSSIFICATION RNU4ATAC HOXA13 PEX6 SLC35D1 LONP1 AGPS TRAPPC2 SUFU TRPV4 PEX1 CLCN5 TRIP11 BMPER INPPL1 RTL1 DDRGK1 COMP RSPO2 SBDS PEX26 NSD2 PIGV ARSL SOX9 DYNC2I1 B3GALT6 MATN3 EXTL3 PEX3 LHX4 IFT80 PRKAR1A FLNB PEX10 PEX12 COL2A1 TSHB MGP DYNC2I2 POU1F1 CYP2R1 PTH1R WNT3 GPC4 PEX16 XYLT1 DYNC2H1 COL10A1 SLC26A2 MIR140 CANT1 FIG4 PROP1 SLC34A2 IHH CYP27B1 DYM PEX5 HSPG2 SLC10A7 NFIX LHX3 DUOX2 HESX1 VAC14 MEG3 GPC3 PEX7 BMPR1B FGFRL1 LBR CPLX1 THRB KIAA0586 UFSP2 COL11A2 GUSB EBP COL9A3 PEX19 FLNA ORC6 PTCH1 CTBP1 ENPP1 IYD SRP54 PEX11B SLC5A5 NEU1 ORC1 GGCX KIF7 RMRP TSHR WDR35 GSC LETM1 KIF22 EIF2AK3 NSDHL NKX3-2 VDR TG SLC34A3 DHCR7 PISD SNRPB ESR1 CYP19A1 BGN RUNX2 SETD2 DNAJC21 PEX2 PTCH2 ABCC6 GPX4 FGFR2 PDE4D DDR2 DUOXA2 PEX13 CSPP1 TONSL CD96 VPS35L CTSK PEX14 KCNH1 GDF5 CHST3 MBTPS1 TPO DLK1 ALPL LFNG HP_IMPAIRED_LYMPHOCYTE_TRANSFORMATION_WITH_PHYTOHEMAGGLUTININ http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_LYMPHOCYTE_TRANSFORMATION_WITH_PHYTOHEMAGGLUTININ MYD88 ZAP70 MGAT2 KLHDC8B JAK3 WAS MCM10 RMRP IL2RG HP_DECREASED_CIRCULATING_RENIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_RENIN_LEVEL KCNJ5 CYP17A1 HSD11B2 SCNN1B CYP11B1 CACNA1D SCNN1G AVPR2 NR3C2 HP_AMINOACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMINOACIDURIA SARDH SLC3A1 CTH CYP2R1 CPS1 SLC34A1 SLC2A2 AMT BCS1L PRODH PREPL SLC7A9 ATP7B GPHN NDUFAF6 PEX1 HCFC1 GCLC SPINK5 MMACHC ERCC5 MMADHC OCRL DHTKD1 COA8 FARS2 IVD GSS GUCY2D OPLAH MCCC2 TK2 MTHFR GEMIN4 LMBRD1 CAMKMT SLC6A19 MT-TN SLC35A1 RRM2B GLYCTK CTNS HIBCH MOCS2 TRNT1 ARG1 GALE CLCN5 ASL HNF4A AASS TNFRSF11A SUCLA2 HGD GCSH ETFA SLC1A1 GLDC DGUOK CBS ALDH4A1 SLC19A2 ETFDH ABCD4 SLC6A20 NGLY1 EHHADH FAH GATM ASPA MARS1 FTCD CYP27B1 CASR PPM1B SLC36A2 PEX5 UMPS ERCC3 ALDH5A1 XPA OAT ETFB NAGA PCCB NEU1 NFS1 CLTRN SURF1 SLC7A7 GALT DMGDH MT-TS1 ERCC4 TRPV6 ERCC2 PLOD2 PCCA XPC HAL MOCS1 PET100 DDB2 FH PRDX1 TNFRSF11B OTC ACADM GRHPR SLC6A18 MTRR MTR ALDOB KYNU HP_INCREASED_VLDL_CHOLESTEROL_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_VLDL_CHOLESTEROL_CONCENTRATION LDLRAP1 LCAT APOA5 UBR1 LPL HP_ARTHRALGIA_OF_THE_HIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTHRALGIA_OF_THE_HIP B2M MATN3 COL9A1 SLC26A2 COL2A1 COL9A2 COL9A3 COMP TRAPPC2 HP_ABNORMAL_FEMORAL_NECK_HEAD_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FEMORAL_NECK_HEAD_MORPHOLOGY ATP7A RNU4ATAC TRPS1 B3GALT6 CCDC47 KCNJ8 CCN6 COL2A1 TRAPPC2 IFNGR1 RTL1 RAB23 DYM COMP COL1A1 SBDS SLC2A10 EXOC6B ARSL RPS6KA3 GLB1 FGFR3 FKBP10 MATN3 RAB33B TBX4 EXTL3 GALNS MAN2B1 LHX4 ATP6V0A2 DMP1 GNPTG RBM8A WNT5A TSHB MGAT2 COG4 COG8 ADAMTSL2 POU1F1 COL11A2 PTH1R TRPV4 AIFM1 EED TMEM67 EZH2 CSGALNACT1 CDC6 ARID1B XYLT1 EP300 COL10A1 RPL13 CRTAP MIR140 NGLY1 OTUD5 CANT1 COL9A3 PROP1 COG1 SLC12A2 SLC35A2 GLI3 IHH HSPG2 SLC10A7 PCNT LHX3 DUOX2 ARCN1 RSPRY1 RINT1 STXBP1 NANS HESX1 MEG3 ZMPSTE24 TRIP11 EXT2 LMNA EXT1 LBR FLNB AFF3 COL9A1 DNAJC21 POP1 KIAA0586 ATRX EFL1 PIK3C2A SLC26A2 CRKL SRCAP TREX1 BCR CFAP410 FN1 ORC6 TGFB3 POC1A GTF2E2 ENPP1 PRG4 TMEM251 IYD SIL1 SRP54 PDE4D SLC5A5 DVL1 UFSP2 SHOX SMARCAL1 ORC1 FLNA TSHR FUCA1 MEGF8 KIF22 ADAMTS2 TRAF3IP1 EIF2AK3 RUNX2 IFIH1 LMX1B HSPA9 COL9A2 MMP13 MMP9 NKX3-2 ACVR1 CREBBP ABCC9 TG NFIX PCYT1A IFT140 BGN LRP5 MAPK1 TGFB1 SLC39A13 DDRGK1 MTX2 TCIRG1 SERPINF1 DVL3 KDELR2 DUOXA2 B4GALT7 CSPP1 TONSL ACAN BMPR1B COL1A2 PEX5 COL11A1 ERCC6 CHD4 UNC45A IDUA CHST3 TPO INPP5K PLOD3 FZD2 RET CTC1 DLK1 HS2ST1 HP_ABNORMAL_FEMORAL_NECK_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FEMORAL_NECK_MORPHOLOGY ATP7A ADAMTSL2 PRG4 TMEM251 SIL1 SRP54 IHH CCDC47 KCNJ8 CCN6 TRAPPC2 PDE4D DVL1 ATP6V0A2 SLC26A2 UFSP2 SHOX ORC1 RTL1 FLNA RAB23 DYM FUCA1 COL2A1 COMP COL1A1 MEGF8 SBDS RSPRY1 ADAMTS2 SLC2A10 EXOC6B EIF2AK3 RUNX2 IFIH1 RPS6KA3 FGFR3 FKBP10 FN1 LMX1B MATN3 XYLT1 RAB33B TBX4 COL9A2 MMP13 MMP9 NKX3-2 EXTL3 ACVR1 GALNS MAN2B1 ABCC9 DMP1 RBM8A WNT5A B3GALT6 NFIX PCYT1A MGAT2 COG4 COG8 COL10A1 IFT140 CANT1 PTH1R AIFM1 BGN EED TMEM67 EZH2 CSGALNACT1 MAPK1 TGFB1 ARID1B SLC39A13 RPL13 DNAJC21 CRTAP DDRGK1 MTX2 MIR140 TRPV4 NGLY1 OTUD5 GLB1 RNU4ATAC TCIRG1 COL9A3 SERPINF1 COG1 SLC12A2 SLC35A2 GLI3 DVL3 HSPG2 KDELR2 EXT1 ENPP1 SLC10A7 COL9A1 PCNT ARCN1 STXBP1 NANS B4GALT7 MEG3 ZMPSTE24 TRIP11 EXT2 LMNA TONSL BMPR1B AFF3 POP1 COL1A2 PEX5 COL11A1 ATRX ERCC6 CHD4 FLNB IDUA CHST3 PIK3C2A CRKL BCR INPP5K CFAP410 FZD2 KIF22 ORC6 CTC1 DLK1 TGFB3 POC1A GTF2E2 HP_ABNORMAL_FEMORAL_HEAD_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FEMORAL_HEAD_MORPHOLOGY DYM ATP7A RNU4ATAC ADAMTSL2 TRPS1 B3GALT6 IYD SIL1 SRP54 CCN6 COL2A1 TRAPPC2 IFNGR1 SLC5A5 DVL1 SLC26A2 UFSP2 SMARCAL1 TSHR COMP COL1A1 SBDS RSPRY1 KIF22 ADAMTS2 SLC2A10 TRAF3IP1 GLB1 MATN3 RAB33B TBX4 HSPA9 EXTL3 LHX4 CREBBP GNPTG TG WNT5A TSHB COL10A1 POU1F1 IFT140 COL11A2 TRPV4 AIFM1 CDC6 SLC39A13 EP300 DNAJC21 MTX2 CANT1 PROP1 IHH DVL3 PIK3C2A PCNT LHX3 DUOX2 RINT1 DUOXA2 HESX1 CSPP1 TONSL ACAN EXT1 COL9A1 POP1 KIAA0586 COL1A2 PEX5 UNC45A IDUA CHST3 EFL1 TPO SRCAP TREX1 INPP5K PLOD3 FZD2 FN1 RET HS2ST1 HP_STEPPAGE_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STEPPAGE_GAIT MARS1 SLC25A46 TTN GAN COA7 KIF1B PDK3 TIA1 SCO2 GRIN2A ATL1 GNE PMP22 NEFL DCAF8 DHH KLHL9 MFN2 SLC30A10 SBF2 HARS1 KARS1 LMNA ATP1A1 ATL3 MPZ HSPB3 MYH7 POLG PMP2 VCP HSPB1 COX6A1 RAB7A SQSTM1 TDP1 MTTP MTRFR GNB4 CLIC2 SPTLC2 ADSS1 HINT1 INF2 IGHMBP2 FHL1 GDAP1 SPTLC1 NEB EGR2 PRX SH3TC2 LRSAM1 HP_AXONAL_DEGENERATION_REGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AXONAL_DEGENERATION_REGENERATION LMNA SLC12A6 RAB7A MPZ KIF1B GDAP1 MFN2 LRSAM1 HP_DECREASED_NUMBER_OF_PERIPHERAL_MYELINATED_NERVE_FIBERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_NUMBER_OF_PERIPHERAL_MYELINATED_NERVE_FIBERS KLC2 JPH1 RRM2B RAI1 GAN DNMT1 NTRK1 KIF1B GDAP1 GJB1 PMP22 NEFL DNM2 PRX FGD4 SBF2 ELP1 MME SACS LMNA HSPB8 NGF SH3TC2 MPZ POLG PLEKHG5 TFG RAB7A APTX RETREG1 KIF1A FLRT1 SPG11 SPTLC1 WNK1 TRIM2 MTRFR VPS13A TYMP MPV17 DHH EGR2 HK1 SCN9A MFN2 HP_HYPERTROPHIC_NERVE_CHANGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTROPHIC_NERVE_CHANGES GDAP1 EGR2 LITAF MPZ PMP22 PRX HP_ONION_BULB_FORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ONION_BULB_FORMATION SLC12A6 PRPS1 COX6A1 SBF1 ARHGEF10 NDRG1 KIF1B GDAP1 MTRFR GNB4 GJB1 LITAF PMP22 EGR2 NEFL DCAF8 DNM2 PRX INF2 FGD4 SBF2 SACS LMNA SH3TC2 MPZ FAM126A FIG4 PMP2 MFN2 HP_DECREASED_NUMBER_OF_LARGE_PERIPHERAL_MYELINATED_NERVE_FIBERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_NUMBER_OF_LARGE_PERIPHERAL_MYELINATED_NERVE_FIBERS RRM2B PRX TYMP NEFL APTX ELP1 MME GDAP1 SACS HSPB8 SH3TC2 HK1 SPTLC1 POLG PLEKHG5 HP_EASY_FATIGABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EASY_FATIGABILITY RRM2B TPM2 RAD51 COLQ AK9 ALG14 PRKAR1A SLC18A3 TPM3 PNPLA2 AGK DCC TGFB1 DOK7 POLG NTN1 CALR MUSK DNM2 SDHAF1 CHRNE SNAP25 CHAT CHRND TET2 AGRN SYT2 COL13A1 MYL2 DNAL4 CHRNB1 SCN4A POMT1 AIP JAK2 CHRNA1 MYO9A POLG2 RAPSN RYR1 GTPBP3 GMPPB NEB MGME1 DPAGT1 SURF1 HACD1 ACTA1 MAP3K20 MEN1 SLC25A1 PYROXD1 MYPN CASQ1 CCN6 TMEM126B MPL CDH23 VAMP1 GFPT1 SDHB SELENON HNRNPK LDHA MTMR14 TWNK LRP4 BAG3 SDHA TYMP LAMB2 FKBP14 SLC25A4 TDP2 STIM1 SLC5A7 ALG2 SDHD ITGA7 HP_SENSORY_AXONAL_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SENSORY_AXONAL_NEUROPATHY ACOX1 HNRNPA1 FGF14 GAN FXN HINT1 ATP13A2 MORC2 CTSD TK2 PRICKLE1 AIFM1 SYNE1 VCP KLC2 DGUOK MFN2 COX20 XRCC4 POLG PLD3 CAPN1 CCT5 PLEKHG4 TWNK GJC2 SHMT2 DHX16 HNRNPA2B1 PIEZO2 NEFH ATL3 HP_GOWERS_SIGN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GOWERS_SIGN SPEG TPM2 DPAGT1 TRAPPC11 CHKB ORAI1 ACBD5 ALG14 SGCD DPM3 PNPLA2 DNA2 SELENON PYROXD1 MYPN DOK7 ASAH1 POMGNT2 POMGNT1 SGCB ALG2 GMPPB PNPLA8 RYR1 MUSK SYNE1 UNC45B BIN1 GFPT1 DNAJB6 TK2 POMT1 PLEC COL6A3 CFL2 SGCA MSTO1 INPP5K TTN COL12A1 SGCG BICD2 CHRNE VMA21 POMK TRIM32 DAG1 RAPSN GATM TPM3 CHRNA1 DMD COL6A2 LAMA2 NEFL TRPV4 ACTA1 FKTN COL6A1 HP_FIRST_DORSAL_INTEROSSEI_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FIRST_DORSAL_INTEROSSEI_MUSCLE_WEAKNESS GARS1 BSCL2 CACNA1A SCN1A PRRT2 REEP1 ATP1A2 HP_THENAR_MUSCLE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THENAR_MUSCLE_ATROPHY BSCL2 GARS1 SLC39A13 PLOD3 REEP1 NEB PDK3 SPG11 COMP HP_MUSCLE_SPASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_SPASM TRAPPC11 COL1A1 PPARGC1A DCTN1 KCNJ1 FLVCR1 SLC12A1 TAF15 DOK7 MT-ATP6 RTN2 ATXN3 PYGM KCNJ18 MFN2 CHMP2B GNAS CAV3 SVIL CFAP410 RYR1 FAR1 ATP1A1 PIGG POMT1 PGK1 VCP FBXO38 GLA TARDBP HADHA HINT1 VAPB EIF4G1 FKRP STX16 CHCHD10 CHRNE ALDH18A1 UBAP1 MATR3 TBK1 PODXL POLG2 PSAT1 HADHB GMPPB GBA ISCU ANXA11 CRPPA LAMA2 MPZ GIGYF2 PGAM2 DLD SH3TC2 GABRA3 PHKG2 ANG MORC2 MAP3K20 PON1 DMD GARS1 SLC12A3 CARMIL2 VPS13C GLE1 CACNA1S HTRA2 ABCB6 ALDH4A1 UBQLN2 AMPD3 TFG DNAJC13 PYGL ATXN2 ACADM REEP1 FUS CASR WASHC5 RRM2B PARK7 COL5A2 LAMP2 SLC25A4 NEK1 OPA3 ALG2 SNCA ATXN1 NEFH ALG14 CLCNKB ORAI1 CPT2 DNA2 SQSTM1 POLG DGUOK LDHA PHKA2 PFKM ACADVL C9orf72 FDX2 MYH7 TREM2 FKTN UNC13A HSPB1 NEFL FIG4 TRPM7 SCN4A PINK1 PRKN HNRNPA1 COL5A1 STIM1 CCNF LRRK2 UCHL1 PFN1 DPAGT1 TRPM6 PON2 AMPD1 HPDL SLC16A1 SMN1 PHGDH PMP22 COL4A1 CASQ1 SOD1 DNAJC6 GFPT1 PON3 GFM2 GLT8D1 OPTN ERBB4 EPHA4 VPS35 CYP17A1 GNA11 DAO TWNK KY BSCL2 PRPH AR SMN2 KCNA1 SYNJ1 HP_SYRINGOMYELIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYRINGOMYELIA CCNQ TENT5A KDELR2 MBTPS2 RAI1 HMGA2 TBX6 NRAS CREBBP NOTCH3 ABCA1 DKK1 FBLN1 FUZ EXT1 DDR2 RUNX2 NFIA CTNNB1 SETD2 FOXF1 KDM1A ACY1 NOTCH2 EP300 SH2B1 LEMD3 EXT2 HP_ABNORMAL_SYNAPTIC_TRANSMISSION_AT_THE_NEUROMUSCULAR_JUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SYNAPTIC_TRANSMISSION_AT_THE_NEUROMUSCULAR_JUNCTION TPM2 NEB COLQ AK9 POMT2 ALG14 CFL2 PPARGC1A ORAI1 TAF15 SLC18A3 TPM3 GNA11 CHRNA1 TFG SQSTM1 DOK7 DKK1 ALG2 COA8 DMPK LDB3 SCN4A CHMP2B CFAP410 SNAP25 CHAT CHRND ATXN2 C9orf72 COL13A1 KLHL41 CHCHD10 MYL2 TREM2 UNC13A TARDBP RRM2B CHRNB1 FIG4 VAPB MINPP1 AGRN ACTA1 CHRNE HNRNPA1 CASR DES MATR3 GMPPB TBK1 MYO9A VCP RAPSN RYR1 GIPC1 STIM1 ANXA11 CCNF CACNA1S DPAGT1 LMOD3 PFN1 FLNC PLEC DCTN1 NGLY1 HACD1 PON2 ANG PON1 SLC34A2 MYPN LARGE1 SOD1 KBTBD13 TOE1 VAMP1 GFPT1 GLE1 PON3 CASQ1 SELENON GLT8D1 OPTN ERBB4 RNASEH1 EPHA4 MUSK UBQLN2 POMT1 DAO FKRP LRP4 ACADM ACAD9 NEFH FUS KCNK9 KCNE3 PRPH SYT2 HINT1 MAP3K20 LAMB2 SLC25A1 NEK1 SLC5A7 ITGA7 HP_PARESTHESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARESTHESIA HLA-DRB1 ATXN1 TENT5A RRM2B KDELR2 BMPR1A MLH1 UBAC2 KCNJ1 UROS CLCNKB PRNP TK2 TRAPPC2 SLC12A1 IL23R GNA11 KIF5A SLC26A2 PTPN22 SERPING1 GALC MFN2 POLG KRAS MEN1 GNAS GPR101 MEFV YY1 MPL CCR1 KLRC4 PMP22 HLA-DQB1 MSH6 C4A NAGLU SEPTIN9 LMX1B ALAD VCP GLA PIK3CA NPRL3 MBTPS2 TGFBR2 FAS NEFL P4HA2 PMS2 STX16 HLA-B CASR CBLIF AIP GABRG2 SCN4A MLH3 SLC19A2 EPCAM MSH2 DEPDC5 TLR4 JAK2 LIFR SH3TC2 CACNA1A KRT14 APP SCN1A TP53 KRT5 HPDL IL10 IL12A HMBS SEMA4A PMS1 THPO NAGA SCYL1 CCND1 GNA14 SH2B3 RPS20 SLC12A3 GATA1 CUBN PRRT2 VWA1 STAT4 FAN1 IL12A-AS1 SLC2A1 PDCD1 GBE1 SRPX2 MTHFR UROD CTDP1 ERAP1 HINT1 TYMP TET2 CALR ATL1 NPRL2 GRIN2A ATP1A2 OPA3 COMP TNFRSF1A HP_DECREASED_MINIATURE_ENDPLATE_POTENTIALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_MINIATURE_ENDPLATE_POTENTIALS RAPSN CHRNB1 AK9 LRP4 CHRND CHRNA1 CHAT AGRN CHRNE SCN4A COL13A1 DOK7 MUSK HP_EMG_DECREMENTAL_RESPONSE_OF_COMPOUND_MUSCLE_ACTION_POTENTIAL_TO_REPETITIVE_NERVE_STIMULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMG_DECREMENTAL_RESPONSE_OF_COMPOUND_MUSCLE_ACTION_POTENTIAL_TO_REPETITIVE_NERVE_STIMULATION SPEG DPAGT1 GFPT1 ALG14 COLQ CHRNB1 AK9 LRP4 TTN CHRNE SCN4A CHRNA1 GMPPB RAPSN RYR1 LAMB2 BIN1 NOTCH2NLC CHRND CHAT AGRN COL13A1 DOK7 ALG2 MUSK HP_DISTAL_SENSORY_IMPAIRMENT_OF_ALL_MODALITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_SENSORY_IMPAIRMENT_OF_ALL_MODALITIES HK1 HINT1 RNF170 NAGA CCT5 SPTLC1 ATL1 SPTLC2 DHH MFN2 HP_PROXIMAL_FEMORAL_METAPHYSEAL_IRREGULARITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_FEMORAL_METAPHYSEAL_IRREGULARITY TRPV4 CSPP1 COL10A1 SRP54 CFAP410 KIAA0586 DNAJC21 SBDS HP_ATLANTOAXIAL_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATLANTOAXIAL_ABNORMALITY DYM NFIX DDR2 B3GALT6 FKBP14 POLR3A GNPTAB GATA1 ARSL COMP CHST14 COL2A1 DSE HP_ATLANTOAXIAL_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATLANTOAXIAL_DISLOCATION GNPTAB NFIX B3GALT6 COMP CHST14 DSE HP_SPINAL_CANAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINAL_CANAL_STENOSIS TBCE KCNAB2 PDE4D SPEN KIAA0586 IARS2 IDUA KANSL1 DMP1 PRKAR1A RERE PRKCZ HSPG2 RIPPLY2 UBE4B AKT1 AIP FGFR3 RRAS2 CASZ1 NOG IDS FBN1 PRDM16 GPR101 ADAMTS10 MMP23B CSPP1 GABRD PDPN PHF6 ARSL PHEX SKI LUZP1 EXTL3 ENPP1 HP_CORONAL_CLEFT_VERTEBRAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORONAL_CLEFT_VERTEBRAE COL11A2 SLC10A7 COL2A1 HSPA9 FLNB LONP1 TRPV4 CSGALNACT1 PEX7 CHST3 TRIP11 ARSL HSPG2 SLC26A2 HP_BACK_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BACK_PAIN PDGFB LMX1B MATN3 CDKN2A TERT BRCA2 HGD TRAPPC2 VCP FLI1 BAP1 TP53 NAB2 POLR3GL STAT6 ABCD1 MESP2 CPOX SMARCB1 FHL1 CAPN3 LRP5 SMAD4 FAR1 SYNE1 CLCN7 LMNA PALLD PRKCSH RABL3 BRCA1 TCIRG1 HMBS CFH SPTBN1 AKT1 TRAF7 ATP7B HTRA1 COL2A1 DLL3 SYNE2 TBX6 HELLPAR SLC22A12 SEC63 PPOX ALDH18A1 SPAST PIK3CA TMEM43 NF2 CFI SMARCE1 SUFU RASA1 PLEKHM1 SLC2A9 KRAS VANGL1 HLA-B VHL EMD PALB2 SMO CD46 HP_LOW_BACK_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_BACK_PAIN HTRA1 COL2A1 ALDH18A1 TBX6 SPAST NAB2 HGD STAT6 FAR1 HP_VERTEBRAL_SEGMENTATION_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTEBRAL_SEGMENTATION_DEFECT RAD51 GPC4 GTF2I LFNG MAFB GDF5 MEOX1 SUFU FLNB GTF2IRD1 RIPPLY2 BMPER NTN1 DKK1 KRAS RTL1 ROR2 KANSL1 HOXD13 TPM2 MBTPS2 CHRNG NSD2 MESP2 FGFR1 GLI3 ANKRD11 MYH3 FKRP GDF6 RBM8A WNT5A FREM2 HES7 TMCO1 NXN METTL27 TBL2 SEMA3E MAP3K7 ATP6V1B2 CHD7 SH3TC2 FLNA GRIP1 TBX2 DLL3 RAD21 NOTCH3 COG1 FGFR2 SON SALL4 MADD MEG3 GPC3 HRAS FGFRL1 CHRND CPLX1 PTCH1 NCF1 TBX6 RFC2 ATRX PUF60 TAF1 COL2A1 DNAJC30 NRAS EBP HNRNPK FN1 BCL7B VANGL1 CHN1 TMEM251 SOX2 CTBP1 ENPP1 FANCI SMAD4 HGD DVL1 DCC CLIP2 ORC1 POR ABHD11 PTCH2 CDK10 IL1RN LETM1 ELN NADSYN1 WBP11 KMT2D EIF4H LAT2 DNAL4 STX1A ACVR1 JAG1 AFF4 FUZ CHRM3 MYO18B BUD23 CCDC22 SOX5 NALCN STAG2 LIMK1 CLDN3 WASHC5 SIX6 FRAS1 TBC1D24 BAZ1B ABCC6 DVL3 IKBKG TNNT3 GDF3 TNNI2 MNX1 GTF2IRD2 CHRNA1 KDM6A FKBP6 CAPN15 CLDN4 VPS37D B3GLCT FGD1 MLXIPL EIF5A FZD2 TMEM270 FANCB DLK1 KYNU WNT7A NOG HP_THORACOLUMBAR_KYPHOSCOLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACOLUMBAR_KYPHOSCOLIOSIS GNPTAB CDH11 POP1 CCN6 SLC26A2 MGAT2 NEPRO LHX3 HP_CNS_HYPOMYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CNS_HYPOMYELINATION TRAPPC11 SMPD4 WDR26 AARS1 CLDN11 GJC2 PLP1 ACBD5 POLR3B POLR3A PIGL YIF1B MED27 C2orf69 TUBB4A INTU ALG2 SOX10 PIGO TBCD SLC25A12 SNIP1 CNTNAP1 PEX13 PGAP2 SIGMAR1 RARS1 ALS2 SPATA5 GRM7 PIGV GABRA5 SPTAN1 AHCY EIF2B4 VPS11 HEXB BCAP31 SLC1A4 ADSL GAN PURA FAM126A GLUL ZNF335 EIF2B2 DYRK1A SLC33A1 QARS1 EIF2B1 PYCR2 DARS1 PIGW GABRA2 DPAGT1 POLR1C DDOST PRKDC CYB5A STXBP1 DALRD3 ATP6V1A EXOC2 PHGDH PIGY NKX6-2 EIF2B5 NARS2 PARS2 EIF2B3 GDAP1 MTHFS SPG11 RMND1 CYB5R3 FUS PGAP3 NMNAT1 LEMD2 HP_DECREASED_SIZE_OF_NERVE_TERMINALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SIZE_OF_NERVE_TERMINALS RAPSN LAMB2 COLQ CHRNB1 AK9 LRP4 CHRND AGRN CHRNE SCN4A GFPT1 CHRNA1 COL13A1 DOK7 MUSK HP_EMG_CHRONIC_DENERVATION_SIGNS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMG_CHRONIC_DENERVATION_SIGNS HNRNPA1 SLC12A6 FBXO38 OPA1 MPV17 PSAP HSPB1 ARSA SCO2 VCP SPG7 PLA2G6 DCAF8 TBCK MFN2 HINT1 ERGIC1 ASAH1 HSPB8 PRPS1 HNRNPA2B1 TBCE ALS2 SH3TC2 HP_EMG_NEUROPATHIC_CHANGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMG_NEUROPATHIC_CHANGES GJB1 HNRNPA1 SLC12A6 OPA1 VCP MPV17 PSAP ARSA ACTA1 SCO2 SPG7 PLA2G6 PLEKHG5 DCAF8 TBCK MFN2 IGHMBP2 ERGIC1 HSPB1 VAPB SPG11 HSPB8 ANO5 CHCHD10 HSPB3 DYNC1H1 FBXO38 IBA57 SMN1 ATP7A SYNE1 PMP22 HINT1 VPS13A NOP56 ASAH1 MYH7 GDAP1 NEB PRPS1 VRK1 HNRNPA2B1 TPP1 TBCE NEFH ALS2 LDB3 UBA1 SH3TC2 HP_AXONAL_LOSS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AXONAL_LOSS ADPRS GJB1 SURF1 NGLY1 INF2 NDRG1 TYROBP BAG3 RFC1 MOCS2 UBQLN2 TRIP4 ASCC1 MOCS1 FIG4 UBTF HP_COLD_INDUCED_MUSCLE_CRAMPS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLD_INDUCED_MUSCLE_CRAMPS GARS1 MPZ CPT2 CHCHD10 PMP22 REEP1 BSCL2 HP_AXONAL_REGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AXONAL_REGENERATION GDAP1 JPH1 YARS1 HK1 NEFL GNB4 HP_INCREASED_SERUM_IRON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SERUM_IRON TFR2 PKLR HJV STEAP3 TTC37 BMP2 BCS1L HAMP KIF23 HFE HP_ANTINEUTROPHIL_ANTIBODY_POSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTINEUTROPHIL_ANTIBODY_POSITIVITY PRKCD BACH2 CASP10 STAT4 ITCH STING1 SRP54 FAS GFI1 FASLG FCGR3B TCIRG1 SPP1 ELANE RASGRP1 IRAK1 HP_ELEVATED_CIRCULATING_LONG_CHAIN_FATTY_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_CIRCULATING_LONG_CHAIN_FATTY_ACID_CONCENTRATION PEX5 ABCD1 CPT2 PEX1 PEX19 HP_EMG_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMG_ABNORMALITY DMXL2 OPA1 MPV17 GBE1 PSAP PPCS MT-TN GNE SLC18A3 TNNI3 GNA11 PDK3 NEFL MYBPC1 KCNJ18 MFN2 SIX3 ABHD5 CAV3 SVIL GIPC1 MT-TP PLN DNMT3B TNNT2 SPG11 TK2 SMAD4 TTN GLI2 COL13A1 COL6A2 ALG14 TMPO POMT1 MYH7 SLC25A4 ARSA FBXO38 FKTN POMGNT1 CHRNB1 MSTO1 FXR1 APOA1 TXNRD2 SCN4A B3GALNT2 CLCN1 CHRNE CEP126 SPTLC2 TMEM43 TAF1A NEXN MYO9A VCL ANKRD1 POLG2 VPS13A TRIP4 GMPPB TGIF1 RBM20 MT-TF MYF6 PRPS1 CRPPA DYSF FKRP CPT1C PRDM16 VCP ALS2 MT-TH DOK7 FGF8 DPAGT1 SMCHD1 LDB3 TNPO3 TPM3 SH3TC2 ABCA1 GABRA3 ZIC2 CAP2 CDON CRYAB SPG7 MYH6 DCAF8 HSPG2 KLHL9 MAFB IGHMBP2 ERGIC1 KBTBD13 POLG ABCC9 ANO5 PSEN1 PLOD1 VAPB FOXH1 TNNC1 UNC80 HSPB8 ATL3 TPM1 BIN1 PLEC YARS2 GATAD1 LAMA4 ADCY6 HSPB3 SHH MUSK CACNA1D CACNA1S SYNE2 MTMR14 SQSTM1 LRP4 HSPB1 NEB SMN1 ELP1 TNNT1 ACAD9 COL12A1 NODAL MT-TL1 ACTN2 SYNE1 SYT2 CHRNA1 RRM2B HINT1 MT-ND5 LAMP2 NOTCH2NLC SLC25A1 COL6A3 KLHL41 DSG2 ALG2 GAS1 MT-TL2 FRG1 LMNA ANO10 DSP LARGE1 TPM2 SPEG COLQ AK9 MT-RNR1 KCNA1 ORAI1 MYH14 TFG PLA2G6 CYP27A1 DMPK DNM2 FGFR1 MYOT MYPN DES SNAP25 CHAT CHRND TIA1 LGI4 ACTA1 MT-TQ OAT MTM1 TANGO2 TAFAZZIN SEPTIN9 COQ8A IBA57 FHL2 AGRN CASR SCN5A TRIM32 MT-ATP8 RAPSN RYR1 SGCG DOLK GDAP1 STIM1 TWNK POMT2 DHX16 VRK1 HNRNPA2B1 MT-TS1 TPP1 CPLANE1 NEFH SGCD UBA1 PUS1 GJB1 HNRNPA1 SLC12A6 CNTNAP1 DMD MATR3 SCO2 HAND2 ATL1 PLEKHG5 NALCN TBCK LAMA2 MT-TK SDHA VAMP1 UNC45B FHL1 GFPT1 PTCH1 PSEN2 CASQ1 VWA1 CSRP3 CHCHD10 TCAP ALDOA ACTC1 DYNC1H1 DUX4 ATP13A2 BAG3 ATP7A GYG1 TDGF1 KCNE3 RAF1 MT-TS2 PMP22 MYBPC3 SMN2 SGCA DLL1 SAR1B LAMB2 NOP56 ASAH1 DISP1 SPTLC1 SLC5A7 TBCE EMD COL6A1 SUFU ATXN3 LRP12 HP_EMG_MYOPATHIC_ABNORMALITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMG_MYOPATHIC_ABNORMALITIES TPM2 TTN NEB AK9 ORAI1 GNE SLC18A3 MYH14 POLG NEFL BIN1 MYBPC1 SIX3 DNM2 FGFR1 ABHD5 CAV3 SVIL MYOT GIPC1 FKRP SCN4A SNAP25 CHAT CHRND SYNE1 TIA1 TK2 LMNA ACTA1 GLI2 COL13A1 ANO5 COL6A2 POMT1 TANGO2 MYH7 SLC25A4 FKTN CHRNB1 MSTO1 FXR1 AGRN COL12A1 TRIM32 CHRNA1 TMEM43 MYO9A POLG2 RAPSN RYR1 TRIP4 KLHL41 TGIF1 SGCG STIM1 TWNK MYF6 CRPPA DHX16 DYSF HNRNPA2B1 TPM3 VCP DOK7 FGF8 LDB3 TNPO3 HNRNPA1 ZIC2 CDON CRYAB CHRNE MYPN NALCN KLHL9 KBTBD13 VAMP1 PLOD1 UNC45B FHL1 FOXH1 PTCH1 UNC80 CASQ1 VWA1 LARGE1 CHCHD10 PLEC COL6A3 ALDOA SHH MUSK DES SYNE2 MTMR14 SQSTM1 LRP4 BAG3 TNNT1 GYG1 ACAD9 NODAL TDGF1 SYT2 SGCA RRM2B DLL1 SAR1B LAMP2 DISP1 SLC25A1 SLC5A7 GAS1 EMD COL6A1 SUFU LRP12 HP_POLYCLONAL_ELEVATION_OF_IGM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYCLONAL_ELEVATION_OF_IGM MYD88 KLHDC8B GPR35 MST1 TCF4 SEMA4D HP_DECREASED_CIRCULATING_TOTAL_IGA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_TOTAL_IGA CD3E KNSTRN ATP6AP1 PIK3CD IVNS1ABP CD3D SYK CD247 HP_ATLANTOAXIAL_INSTABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATLANTOAXIAL_INSTABILITY DYM GATA1 DDR2 ARSL COL2A1 FKBP14 HP_ABNORMAL_VERTEBRAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VERTEBRAL_MORPHOLOGY ATP7A RNU4ATAC COL11A1 RAD51 GTF2I SLC35D1 B3GALT6 SIX3 IARS2 TENT5A LFNG KCNJ8 SH3PXD2B FBN1 SUFU TRPV4 KMT2D TRIP11 FGFR1 FANCB BMPER KRAS RTL1 DDRGK1 EBP KANSL1 SOX3 TBXT HOXD13 TPM2 MBTPS2 GORAB COL2A1 RSPO2 OBSL1 SMAD4 MRPS28 ARSL SH2B1 GPX4 SGMS2 CEP41 SOX9 ZIC2 TNFRSF11A P4HB RAB33B GALNS MAN2B1 XYLT2 DMP1 PRKAR1A AGA PYCR1 GDF6 RBM8A FLNB ACVR1 FGFR3 FREM2 OCRL SUMF1 ARL13B COG4 HES7 SC5D COL11A2 AIFM1 GNPAT INPP5E CSGALNACT1 NXN CHST3 SFRP4 TBL2 GPC4 DYNC2H1 RPL13 CBY1 ARL3 CRTAP LTBP3 COL9A1 MIR140 NF1 LRP5 TCTN1 OTUD5 AKT1 MATN3 CANT1 CREB3L1 GRIP1 MIA3 GUSB CTBP1 NOTCH3 COG1 FGFR2 TBX15 AIP MYH3 GLI3 HSPG2 TDGF1 LOXL3 SHH SALL4 RSPRY1 RINT1 FOXF1 MADD NANS ROR2 MEG3 GPC3 ARSB PEX7 FGFRL1 MESP2 CPLX1 LBR RUNX2 VANGL2 GLB1 WNT3A PTCH1 NCF1 TMEM237 TBX6 POP1 PLS3 KIAA0586 FOXA2 ATRX CEP120 VANGL1 PUF60 TAF1 DNAJC30 RIPPLY2 HNRNPK CHST14 SALL1 CCDC8 DISP1 CFAP410 MMP2 GNS PPIB SLC26A2 FGF8 CHD7 ANTXR1 FLNA BCL7B ADA MPL CHN1 PSMC3IP ENPP1 NOTCH2NLC DYM FSHR SOX2 B3GAT3 FANCI AHI1 PDE4D DVL1 DCC ORC1 POR KIF7 PTCH2 TCTN2 WDR35 CDK10 FUCA1 GDF11 IL1RN FKRP ELN KIF22 NADSYN1 WBP11 EIF2AK3 NOTCH2 CSF1R TCIRG1 CUL7 NSDHL EIF4H FN1 MMP13 NKX3-2 PROP1 GJA1 ABCC9 NEK1 JAG1 ZBTB20 HESX1 AFF4 FUZ SETD2 DKK1 COL9A2 IDUA COL10A1 STIL BUD23 SRP54 CCDC22 PLEKHM1 PLOD1 HHAT PIBF1 STAG2 SLC39A13 GLI2 DACT1 CLDN3 ACAN DNAJC21 SOX5 NPR2 PMM2 TBC1D24 LHX4 ABCC6 SERPINF1 COL1A2 B9D1 FOXH1 GLE1 MKS1 CCN6 IKBKG CCND1 CLCN7 DDR2 IDH2 VDR POU1F1 KDM1A PHF6 SPIDR FKBP10 TONSL EXTL3 SKI P3H1 CHRNA1 CSPP1 KDM6A CTSK PLOD2 CHRNG GDF3 LETM1 CAPN15 PAM16 SEC24D TBXAS1 B3GLCT FGD1 MAP3K7 CCL2 COL1A1 CTSA EIF5A FZD2 RPS6KA3 WASHC5 TMEM270 SLC29A3 HAAO KYNU NMNAT1 NSD2 LONP1 GAS1 CDH11 HIBCH MAFB GDF5 MEOX1 TRAPPC2 GTF2IRD1 RAI1 ARMC9 DEAF1 TGIF1 NTN1 INPPL1 SLC25A24 IDH1 NUP107 FLII COMP SBDS SERPINH1 HYLS1 EXOC6B IFITM5 HGSNAT WNT1 ITCH IDS DYNC2I1 DHODH ANKRD11 FANCC NELFA IFT80 ERF WNT5A APC2 NAGLU DYNC2I2 CEP104 WNT3 TMCO1 DLL1 METTL27 CBS SEMA3E RECQL4 SEC23A XYLT1 ATP6V1B2 PTH1R SH3TC2 USP8 TBX2 DLL3 RAD21 ACP5 PPP1R15B IHH UBE3B SON PLCB3 PTEN NODAL SLC10A7 HRAS CHRND DSE HDAC6 THPO RFC2 MRPS22 UFSP2 APC CDON NRAS PHEX EFL1 ALG12 SCARB2 NR5A1 LRP4 CYP27A1 IFT43 PIGG PAPSS2 TMEM251 KDELR2 DHX37 HGD SMOC1 TBX5 COLEC11 GBA ZIC3 CLIP2 SMARCAL1 RMRP ABHD11 POLR3H NSD1 BMP1 LAT2 DNAL4 HSPA9 STX1A NEU1 NEPRO BNC1 PCYT1A CPLANE1 CHRM3 MYO18B BGN KATNIP NALCN NEK9 LIMK1 IQSEC2 SIX6 FRAS1 MMP14 BAZ1B TMEM67 MESD POLR3A GNPTAB DVL3 OTX2 TNNT3 NOG TNNI2 MNX1 DHCR7 UROS TAPT1 SGSH FLI1 GTF2IRD2 BMP15 SPARC RPS19 VPS35L SOST FKBP6 CLDN4 PIEZO2 VPS37D MLXIPL TWIST1 PLOD3 COL9A3 PAX3 DLK1 SF3B4 ALPL WNT7A HP_PARALYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARALYSIS SLC2A1 CPOX SDHD NEFH LONP1 ALOX12B PPARGC1A DCTN1 CLCNKB PDCD10 TAF15 TRPV4 GAA BCHE KCNJ18 MYCN SQSTM1 DKK1 ATXN3 MFN2 VHL FAH CYP27A1 SCN4A CHMP2B CFAP410 SLC4A1 RARS1 TNFSF11 GBA ATXN2 PMP22 C9orf72 SYNE1 SLC25A19 CD59 ADGRG1 CHCHD10 HMBS TREM2 ALAD UNC13A TARDBP SRPX2 FIG4 TRPM7 VAPB SEC31A KRAS GDAP1 TMEM127 SDHB HNRNPA1 CNTNAP1 MATR3 TMEM43 CA2 TBK1 PPOX MLXIPL VCP KIF1B RET CACNA1S GM2A GIPC1 ANXA11 MEGF10 TRAPPC12 CCNF SDHAF2 B4GALNT1 NOTCH3 SH3TC2 PFN1 ALDH18A1 CACNA1A GABRA3 SCN1A SDHC PON2 TCIRG1 ANG MORC2 ALOXE3 KCNJ2 PON1 SLC52A3 TPI1 ELN SOD1 PI4KA IGHMBP2 POLG HSPB1 PRX SLC12A3 CDH23 CLCN7 DLST FHL1 GLE1 ZNF699 ZFYVE26 PON3 SLC5A7 GLT8D1 OPTN ERBB4 COL4A1 ABCB6 EPHA4 LMNA NONO UBQLN2 EPAS1 SDHA MAX DAO FH SYNE2 BAG3 FUS KCNJ5 KCNE3 PRPH HSPB8 POLA1 DNMT3A SLC25A11 TRIM2 SETBP1 HFE NEK1 ATP1A2 TGM6 PRRT2 HK1 LMNB1 EMD NF1 FGFR1 MDH2 HP_HYPOCALCEMIC_TETANY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCALCEMIC_TETANY GNAS TBCE FAM111A CTNS STX16 HP_SOMATIC_SENSORY_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOMATIC_SENSORY_DYSFUNCTION KLC2 MME SLC25A15 MPV17 GBE1 IARS2 NTRK1 WASHC5 PDYN UROS PDK3 SLC12A1 HERC2 FLI1 RTN2 MED25 LITAF GNA11 KIF5A PTPN22 NEFL GALC GNAS CCT5 GPR101 H19 HARS1 CCR1 FAR1 GCH1 NGF SH3TC2 MPZ VPS41 HLA-DQB1 HMBS VCP FGF14 PRPS1 COX6A1 PIK3CA NPRL3 TGFBR2 FAS MSTO1 HINT1 P4HA2 GDAP1 PMS2 STX16 CHCHD10 SCN10A MTRFR IFRD1 ZEB2 YARS1 ALDH18A1 SPTLC2 MFN2 PMP22 SCN9A AIP GABRG2 SCN4A MLH3 ZFHX2 MSH2 CHAMP1 POLG SHANK3 SPG11 ATL1 TDP1 TWNK CHST14 CACNA1A SLC25A46 ABCA1 TBP GAN KIF1B CDKL5 SEMA4A NDN GARS1 CYP7B1 PNKP FMR1 MADD CUBN RELA ALMS1 ZFYVE26 UNC80 STAT4 HSPD1 SLC2A1 PLEKHG5 BEAN1 TFG PDCD1 ELOVL5 HSPB1 SYNE1 KIF1A PPOX UBTF UROD HNRNPK ERAP1 C19orf12 AEBP1 CAPN1 TYMP HDAC4 SNRPN SORD RFC1 FBLN5 DAB1 OPA3 EGR2 GJB1 LRSAM1 AIFM1 ATXN1 RRM2B TK2 IL23R GBA2 SLC26A2 SAMD9L FGD4 YY1 MPL AARS1 MAGEL2 SACS KDM5C SETX RAB7A ATXN3 SERPINI1 VPS37A CASR WDR48 DEAF1 DEPDC5 RAI1 SNORD116-1 PIK3CD TPP1 JAK2 B4GALNT1 REEP1 SPG7 KRT14 TP53 DNAJB2 GJC2 HPDL SYNGAP1 IL10 MATR3 SCO2 LYST CCND1 GNA14 GMPPA PRX PLEKHG4 PEX6 PWRN1 MECP2 HAX1 PRRT2 FAN1 MKRN3 PWAR1 ZFTA NARS1 HK1 PIK3R5 HPGD PRKCG BAG3 MTTP BSCL2 GNB4 SPTLC1 SPAST MTHFR PSAP TRPV4 EXT2 TENT5A SIM1 SAR1B ERLIN2 BMPR1A MLH1 UBAC2 KCNJ1 PRNP TRAPPC2 FLVCR1 SLCO2A1 RNF170 KNSTRN SPTBN2 MTMR2 DKK1 MT-TE KRAS GABBR2 MEN1 FLII STXBP1 MEFV KLRC4 SCN11A HEXB C4A NAGLU LMX1B ALAD GLA PGM3 CBLIF UBAP1 XRCC1 LMNB1 SLC19A2 VPS13A INF2 RASA1 MAG DYNC1H1 MCM3AP NDRG1 TLR4 CPT1C PIEZO2 VPS13D LIFR SCN1A CACNA1G MORC2 GRIA3 NIPA1 DCAF8 NAGA SCYL1 KLHL9 HLA-DRB1 SH2B3 RPS20 SLC12A3 PLOD1 GATA1 SOX10 IBA57 SBF2 KARS1 HSPB8 KCNC3 ATL3 ALDH4A1 IL12A-AS1 POLR3A DSE VAMP1 KCND3 OCA2 FXN COL1A1 APTX ELP1 ATXN2 GPI PEX10 FBN1 NOTCH2NLC NPRL2 DHH ATP1A2 CYP27A1 COMP FIG4 MARS1 ABCD1 IGF2 DDHD1 KDELR2 CLCNKB NGLY1 ARSI MT-ATP6 SERPING1 FUZ DNM2 NF2 DARS2 NTNG1 MSH6 SEPTIN9 PHYH MBTPS2 HLA-B ATXN7 ATP13A2 FLRT1 DHTKD1 PEX7 WNK1 AASS PLD3 IGHMBP2 EPCAM SDHA ATXN8OS NEFH NLRP3 IQSEC2 MAPT SMC1A JPH1 APP ABHD12 SBF1 KRT5 CLTCL1 COA7 IL12A NALCN PMS1 THPO EBF3 EXT1 SPART VWA1 LMNA SLC33A1 ATN1 STUB1 TGM1 ATP7A RETREG1 REEP2 SRPX2 NPAP1 ERBB3 DNAJC3 CTDP1 TET2 CALR GRIN2A KCNQ1OT1 CAV1 SNORD115-1 TNFRSF1A HP_PERIPHERAL_AXONAL_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_AXONAL_NEUROPATHY KLC2 OPA1 MPV17 MT-TS1 KIF5A MT-ND6 TTR NEFL MFN2 MT-TE CCT5 HARS1 MME SPG11 ERCC8 SLC25A19 HMBS TBCE VCP BRAF FGF14 HINT1 MT-TS2 SERPING1 MTRFR ZFYVE26 IFRD1 ATAD3A SPTLC2 POLG2 VPS13A KCNJ10 PNPLA6 SHMT2 MCM3AP MYF6 POLG SH3TC2 PIEZO2 CYP2U1 MT-TH SLC25A46 ABCA1 GAN MORC2 SPG7 DARS2 DCAF8 ALDH18A1 KLHL9 MT-CO1 PLOD1 IBA57 MPZ VPS41 TWNK HSPB8 SYNE1 ATL3 AFG3L2 SETX WARS1 FXN HSPB1 ELOVL4 AAAS ELOVL5 TRPV4 RRM2B MT-TW CAPN1 TYMP SLC25A4 FBLN5 XK MTMR14 WFS1 MT-ND4 NEMF MARS1 PEX10 AMPD2 VPS13D MT-TL1 PIGB TK2 PRICKLE1 AIFM1 COASY GBA2 MT-ATP6 DGUOK COG8 BIN1 RETREG1 COX20 DYNC1H1 DMPK GJC2 AARS1 GCK ASCC1 MT-CO2 MICU1 KIF1A ATP13A2 FLRT1 WDR48 KCNJ11 MT-ND1 PDX1 PLD3 STAT3 MT-ND5 DHX16 HNRNPA2B1 NEFH PLA2G6 HNRNPA1 SPTBN4 SLC12A6 C19orf12 TRAPPC11 COA7 MT-CO3 PSAP ERCC6 RYR1 ATL1 TBCD DNM2 XRCC4 PLEKHG4 INS VWA1 NAGA ABCD1 MT-TF HK1 ACOX1 GLE1 KRAS MT-TQ TDP1 CTSD GBE1 KCNK9 TUBB3 SPTLC1 DDHD1 ABCC8 TRIM2 CTDP1 KARS1 TRIP4 GMPPA ATXN3 HP_SEGMENTAL_PERIPHERAL_DEMYELINATION_REMYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEGMENTAL_PERIPHERAL_DEMYELINATION_REMYELINATION MT-ND3 MT-ND2 PRPS1 MPZ NDRG1 MT-TL1 MT-ND5 LITAF MT-ND1 PMP22 MT-TK NEFL MT-TV DNM2 MT-ND4 SBF2 MT-ATP6 MT-TW EGR2 MT-ND6 PRX HP_EMG_AXONAL_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMG_AXONAL_ABNORMALITY CYP27A1 PDK3 TFG GNE ANO5 ATP13A2 SGCG SPG11 HP_UPPER_LIMB_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_LIMB_MUSCLE_WEAKNESS AK9 CHCHD10 TFG ADAR EGR2 NEFL BIN1 FUZ GALC MFN2 LDB3 NF2 FGD4 SMARCB1 CHRND SYNE1 LMNA SH3TC2 LIPE COL13A1 ANO5 MYH7 HMBS AKT1 VCP FBXO38 CHRNB1 BAP1 NUP62 SCN4A ACTA1 YARS1 CHRNA1 PIK3CA TMEM43 SMARCE1 ADSS1 MTRFR RAPSN CRPPA GMPPB SGCG GIPC1 MYF6 LAMA2 PIEZO2 VHL NEFH DOK7 SPG7 SMO TCAP DYSF PDGFB MPZ TERT MORC2 GARS1 RYR1 CHRNE DNM2 SPART ERGIC1 CYP7B1 PLOD1 CPOX FHL1 ZFYVE26 VWA1 POMT1 MUSK TRAF7 SYNE2 POU3F4 KY LRP4 GYG1 REEP1 BSCL2 PPOX MT-ATP6 SUFU AGRN MTMR14 EMD HP_BABINSKI_SIGN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BABINSKI_SIGN NDUFS4 SEPSECS ERLIN2 FUS NDUFS1 IREB2 TAF2 PSAP WASHC5 RNASEH1 PDYN ATP6AP2 ADGRG1 RNF170 RTN2 PLP1 EIF2S3 KIF5A ADAR DKK1 MT-ATP6 AP4E1 ATXN3 CHCHD10 SELENOI PNPLA6 MFN2 PGAP1 MT-TE WWOX UBAP1 CCT5 ASPA GCH1 GRID2 FAR1 NOP56 ZNF41 AP4S1 SLC39A14 FARS2 SLC9A7 GAN ARSA ZNF81 SPG11 ACOX1 VCP ATXN10 FRMPD4 DARS1 MTRFR ZFYVE26 PCYT2 CACNA1A AGTR2 PTCHD1 ALDH18A1 SNX14 ZFYVE27 TSEN2 TARDBP ATXN7 ARX MDH2 ALS2 LMNB1 MECP2 SLC16A2 SPART HADHB FTSJ1 PAK3 MAG CTSF CPT1C SHMT2 PARS2 TH CYP2U1 ATL1 DNAJC3 ERLIN1 REEP1 TTC19 SLC25A46 CACNA1G MORC2 TMEM63A GPT2 AFG3L2 GRIA3 SPG7 NIPA1 TREM2 C19orf12 OPA1 DARS2 SNCA SYP DPM3 DLG3 CYP7B1 IBA57 POLR3A TBK1 COL4A1 AP4M1 HSPD1 NT5C2 ZFR MPZ CHMP2B VAMP1 FXN AAAS SYNE1 ATP13A2 KIF1A SLC19A3 PRSS12 UGDH CAPN1 REEP2 DSTYK TGM6 DMD NEFL SIGMAR1 CYP27A1 FAM126A ACSL4 ZNF711 SLC44A1 CNKSR2 STUB1 ATXN1 FA2H MID2 DDHD1 PET117 VPS13D CWF19L1 TYROBP PRICKLE1 GBA2 MTPAP ARHGEF6 HADHA SPAST PRPS1 TIMM8A OPA3 NUBPL CNTNAP1 ABCD1 RAB39B COX20 FBXO7 SAMD9L SLC1A4 SDHAF1 GJC2 GDI1 TRMT5 FTL SACS CHP1 KDM5C RPS6KA3 CNP KIF1C SLC2A1 ALG13 TANGO2 SETX DDHD2 SQSTM1 MAN2B1 HTRA1 CTDP1 USP27X KCNA1 NUP62 GLRX5 DEGS1 COQ2 ABCB7 TSPOAP1 PRNP JAM2 PSEN1 RUSC2 SDHA TSPAN7 BSCL2 TPP1 NEFH B4GALNT1 TFG MED12 KCNA4 GJB1 ABHD12 AP4B1 IQSEC2 CLDN11 HPDL STEEP1 POLR3B GALC PIGT EEF2 PLAA PLA2G6 IL1RAPL1 ADPRS C9orf72 RFC1 NDUFA4 UPF3B SDHB SLC2A3 GFM2 LARGE1 SLC33A1 SOD1 USP9X DNMT1 PIK3R5 CLCN4 AIFM1 TBC1D20 KY BRAT1 TSEN15 PYCR2 MTTP PMP22 DLAT FGF13 HTT NFASC UCHL1 HCFC1 TSEN54 MCOLN1 TSEN34 CAV1 DDC APOE SDHD SPG21 HP_ANTINUCLEAR_ANTIBODY_POSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTINUCLEAR_ANTIBODY_POSITIVITY PTPN2 CASP10 FCGR2B STING1 IL12A IL2RB ACP5 RASGRP1 SOCS1 LACC1 ANKRD55 RIPK1 MMEL1 PLCG2 TREX1 TNPO3 PTPN22 MS4A1 TNFSF15 TNFAIP3 IRF5 IL2RA FAS FCGR2A STAT4 PRKCD CD247 FASLG IL12RB1 POU2AF1 SLC7A7 DNASE1 NLRP1 CTLA4 IRAK1 MMP2 SPIB SPP1 COPA HP_INCREASED_CIRCULATING_IGM_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_IGM_LEVEL MYD88 CASP10 TPP2 PGM3 UNG CD40 IL12A FASLG CD247 TCF4 IL12RB1 SEMA4D RASGRP1 POU2AF1 IFNGR1 MMEL1 SH2D1A GPR35 VPS33A DNMT3B TNPO3 PIK3CD IKBKG KLHDC8B NSMCE3 MST1 TNFSF15 XIAP SPIB IRF5 CD40LG FAS OTULIN HP_DISPROPORTIONATE_SHORT_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISPROPORTIONATE_SHORT_STATURE TENT5A SLC35D1 AGPS TRAPPC2 FLNB MMP13 TRIP11 BMPER INPPL1 DYNC2LI1 DDRGK1 EBP KMT2A DYM COL2A1 COMP GPX4 GDF5 FGFR3 DHCR24 DYNC2I1 RAB33B EXTL3 GALNS FZD2 XYLT2 CHST3 IFT80 PRKAR1A COL1A1 KIAA0753 IFT43 DYNC2I2 GNPAT NXN DYNC2H1 COL10A1 SLC26A2 COL11A1 CRTAP MYSM1 SHOX FGFR1 TRPV4 CREB3L1 GLB1 ACP5 COG1 TBX15 IHH MATN3 SIK3 SLC10A7 PKDCC PCNT DVL1 WDR19 ARCN1 RSPRY1 ROR2 ARSB SOX9 PEX7 MTOR LBR HDAC6 MESP2 XRCC4 DLL3 IFT122 TBX6 KIAA0586 WNT5A BMPR1B COL11A2 B3GLCT PHEX MAB21L2 CFAP410 FN1 ALG12 PPIB EVC2 POC1A KDELR2 B3GAT3 NSMCE2 SMARCAL1 EVC RMRP WDR35 GPC6 GSC KIF22 KDM5C GLI1 ACAN MBTPS2 NKX3-2 IFT52 PCYT1A CANT1 BGN ASXL1 SLC39A8 NPR2 XYLT1 MESD COL1A2 ALG9 CCN6 RNU4ATAC HSPG2 DDR2 DHCR7 PUF60 CEP120 WNT7A CSPP1 MIR140 TONSL P3H1 BRF1 CEP57 KYNU ALPL PTH1R HS2ST1 HP_MILD_SHORT_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MILD_SHORT_STATURE COL10A1 RTTN MATN3 CANT1 COL9A2 PDE4D COL1A1 FGD1 COMP LBR CAMK2G DOCK3 CHST11 EVC EVC2 PRKAR1A COL9A3 IDS HP_PROPORTIONATE_SHORT_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROPORTIONATE_SHORT_STATURE ATR PTCD3 SALL4 TMEM251 FAM111A PDE4D SIL1 CAMK2G GMNN FLNB KIF11 DVL1 TRPV4 SLC26A2 HCCS SCNN1G EVC2 DDRGK1 SELENOI DYM GHRHR SDHAF1 COL9A2 ORC4 GORAB COL2A1 COMP COL1A1 CKAP2L ERCC4 INPPL1 ADAMTS2 MBTPS2 STAT5B SMAD4 CRIPT TRMT10A ARSL RTTN SGMS2 IDS SHOX ANTXR2 ACAN CENPT NPR2 NIN HSPA9 FGD1 LARP7 TBCE CTSA TKT CTNNB1 PNPLA6 GLB1 NEPRO PYCR1 SMARCA2 GH1 NDUFB11 WNT5A B3GALT6 FGFR3 HADH SCNN1B DNMT3A ADAMTSL2 COL10A1 CANT1 FBN1 LBR RUNX2 DOCK3 EVC HHAT SLC39A13 ALDH18A1 XYLT1 RPL13 PRKAR1A BRAF CDC45 PIK3R1 FGFR1 PTDSS1 NSMCE2 MATN3 OBSL1 MIA3 CDC6 DHCR24 DVL3 SON TRIP11 MESP2 AMER1 GHR RMRP ADAMTS10 SCNN1A PPP1R15B SDHB CDT1 ERCC6 PTH1R PEX7 RNU4ATAC TBX6 PCYT1A HSPG2 DLL3 HOXD13 COL1A2 POLE SDHA ORC1 PIEZO2 BRF1 COL9A3 MAP3K7 COX7B INPP5K FZD2 CHST11 TCTN3 ORC6 DLX5 SDHD LTBP3 KAT6B HP_SEVERE_SHORT_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_SHORT_STATURE PTCD3 SALL4 TMEM251 FAM111A SIL1 GMNN FLNB KIF11 DVL1 TRPV4 HCCS DDRGK1 DYM GHRHR SDHAF1 ORC4 GORAB COL2A1 COMP COL1A1 CKAP2L ERCC4 INPPL1 ADAMTS2 MBTPS2 STAT5B SMAD4 CRIPT RTTN SGMS2 IDS SHOX ANTXR2 CENPT NIN HSPA9 LARP7 CTSA PNPLA6 GLB1 NEPRO PYCR1 SMARCA2 GH1 NDUFB11 WNT5A B3GALT6 FGFR3 ADAMTSL2 CANT1 FBN1 HHAT ALDH18A1 XYLT1 RPL13 CDC45 PIK3R1 FGFR1 PTDSS1 NSMCE2 OBSL1 CDC6 DHCR24 SLC26A2 DVL3 TRIP11 MESP2 AMER1 GHR RMRP SDHB CDT1 ERCC6 PTH1R PEX7 RNU4ATAC TBX6 PCYT1A HSPG2 DLL3 COL1A2 POLE SDHA ORC1 PIEZO2 BRF1 MAP3K7 COX7B DNMT3A INPP5K FZD2 TCTN3 ORC6 DLX5 SDHD LTBP3 KAT6B HP_BIRTH_LENGTH_GREATER_THAN_97TH_PERCENTILE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIRTH_LENGTH_GREATER_THAN_97TH_PERCENTILE SUZ12 GPC4 PIGA MTM1 GPC3 HP_DISPROPORTIONATE_SHORT_TRUNK_SHORT_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISPROPORTIONATE_SHORT_TRUNK_SHORT_STATURE DYM MESP2 TRPV4 RAB33B COL2A1 DLL3 FLNB GLB1 TBX6 NKX3-2 GALNS XYLT2 ACP5 TRAPPC2 TRIP11 BRF1 BMPER SMARCAL1 CCN6 RSPRY1 BGN FN1 CHST3 KIF22 PUF60 ARSB HP_ELEVATED_CALCITONIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_CALCITONIN SDHA SDHD MAX FH SDHC CDKN2C PRKAR1A TMEM127 MEN1 CDKN1A SDHB SLC25A11 RET CDKN2B VHL KIF1B GNAS CDKN1B SDHAF2 PDE4D DLST NF1 MDH2 HP_ELEVATED_CIRCULATING_GLUTARIC_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_CIRCULATING_GLUTARIC_ACID_CONCENTRATION ETFDH DNAJC19 GCDH ETFA SUGCT ETFB HP_3_METHYLGLUTACONIC_ACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_3_METHYLGLUTACONIC_ACIDURIA TMEM70 HMGCL TAFAZZIN AUH TIMM50 MICOS13 ATAD3A AGK DNAJC19 ATP5F1D OPA3 SUCLG1 ATP5F1E POLG SDHA HTRA2 ATPAF2 CLPB SERAC1 HP_HYPOURICEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOURICEMIA CTNS SLC2A9 SLC22A12 MOCS2 PRPS1 GATM GPHN MOCS1 HNF4A PNP NDUFAF6 EHHADH SLC2A2 MOCOS SLC34A1 HP_URINARY_GLYCOSAMINOGLYCAN_EXCRETION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URINARY_GLYCOSAMINOGLYCAN_EXCRETION NAGLU IDUA COL2A1 IDS GLB1 GALNS GNS GUSB GNPTAB FUCA1 ARSB SGSH HGSNAT VPS33A PIK3C2A SUMF1 RMRP HP_INCREASED_SERUM_PYRUVATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SERUM_PYRUVATE KARS1 MT-TF ACAT2 AIFM1 NDUFS2 NDUFAF8 BCS1L MT-ND3 PITRM1 NDUFAF3 MT-TP NDUFAF4 PDHA1 NDUFS6 MT-TK COX6A2 PNPLA8 NDUFS7 LDHA PDHX COX16 NDUFA1 NDUFS4 NDUFAF2 COX10 NDUFV2 TWNK TIMMDC1 FOXRED1 NUBPL NDUFS3 NDUFS1 SLC25A26 MPC1 NDUFB11 SDHB LONP1 NDUFA6 NDUFA11 NDUFB10 PC MECP2 NDUFV1 MT-TL1 MT-ND1 UQCRC2 MT-ND2 NDUFB9 NDUFAF5 MT-TI NDUFS8 NDUFAF1 NDUFB3 TMEM126B POLG LIPT2 HP_EXERCISE_INTOLERANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXERCISE_INTOLERANCE TPM2 NDUFS4 POLG2 COL13A1 NEB MT-TS1 RNASEH1 MT-TL1 TK2 COL12A1 AGK CHCHD10 MT-ND6 HADHA POLG ATP5F1D MT-TE C1QBP LDHA PHKA2 GYS1 PFKM TRMT5 MYH6 POLR2A MT-CO2 SLC25A4 PGK1 MT-TN COQ8A RRM2B MT-TS2 ACTA1 RSPH9 GATA6 NKX2-5 MT-ND1 CAVIN1 PYGM ENO3 TBX20 HADHB PGM1 GMPPB MT-ND5 TLL1 CPT2 SDHA TWNK ISCU BCS1L TPM3 MGME1 PNPLA2 MT-TH PGAM2 COA3 FARSB PHKG2 SLC18A3 GCDH MT-CO3 DMD FARSA PHKA1 FLAD1 MYPN TMEM126B MT-CO1 TOP3A KBTBD13 MIEF2 DNA2 SLC25A32 ALDH4A1 MT-TF SURF1 TAFAZZIN YARS2 ACAD9 RSPH4A GATA4 MT-TQ MT-TK CITED2 PUS1 HINT1 MT-TW MT-CYB BVES ACTC1 LAMP2 KLHL41 MT-ND4 HP_SHOULDER_GIRDLE_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHOULDER_GIRDLE_MUSCLE_WEAKNESS HACD1 AK9 RYR1 ACTA1 MATR3 FRG1 VCP CHRNE TPM3 PNPLA2 GALC GNE POLG MT-TE DMPK ABHD5 ANO5 MYOT FKRP CHRND DNAJB6 SELENON COL13A1 MYH7 MUSK MYL2 TPM2 TWNK CHRNB1 LRP4 GYG1 SCN4A HNRNPDL TRIM32 CHRNA1 TTN BICD2 POLG2 RRM2B RAPSN MAP3K20 SLC25A4 AGRN PSAP DOK7 DYSF TNPO3 ITGA7 HP_SUBSARCOLEMMAL_ACCUMULATIONS_OF_ABNORMALLY_SHAPED_MITOCHONDRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBSARCOLEMMAL_ACCUMULATIONS_OF_ABNORMALLY_SHAPED_MITOCHONDRIA PNPT1 POLG ISCU TWNK TYMP SLC25A4 HP_PREDOMINANTLY_LOWER_LIMB_LYMPHEDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREDOMINANTLY_LOWER_LIMB_LYMPHEDEMA VEGFC CELSR1 FOXC2 FLT4 GJC2 DNMT1 SOX18 HP_DIFFICULTY_CLIMBING_STAIRS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFICULTY_CLIMBING_STAIRS SPEG TPM2 DPAGT1 ALG14 DNAJB6 VCP CAPN3 DMD PLEKHG5 PYROXD1 MYPN HADHA POLG POMGNT1 GMPPB MFN2 MT-TE RYR1 MYOT BIN1 FKRP MIEF2 DYSF POMT1 FLNC RNASEH1 PLEC SGCA KBTBD13 GFPT1 RRM2B POMT2 TWNK ANO5 TTN VMA21 POMK ADSS1 POLG2 HADHB SLC25A4 SGCG TPM3 DAG1 LAMA2 ACTA1 TFG ALG2 TCAP HP_MUSCLE_STIFFNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_STIFFNESS TPM2 SLC2A1 SLC6A5 GABRA3 MYOT NEB SIL1 PANK2 RNASEH2C SLC16A1 ATP13A2 TK2 CPT2 KIF11 MYO5A GALC KIF5A PHKA1 MAPT DHCR24 CAV3 SPAST MYPN MT-ATP6 CRYAB SYNJ1 KCNJ18 ABCD1 POLG KBTBD13 ATP2A1 LDB3 LDHA ACADVL SCN4A DNAJC6 RNASEH2B RNASEH2A VAMP1 ZFYVE26 DARS2 CACNA1S ATAD1 TNFRSF1A TREX1 RNU4ATAC ANO5 PRKAR1B RYR1 HINT1 KRAS GLRA1 CLCN1 ACTA1 GLRB KIF1A IFIH1 PODXL SAMHD1 GPHN ARX CAVIN1 PYGM REEP2 INPP5K KAT6A ADAR PSAP STIM1 KLHL41 TPM3 SPG7 KCNA1 FGFR1 ANO10 HP_TYPE_2_MUSCLE_FIBER_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_2_MUSCLE_FIBER_ATROPHY SPTBN4 LAMB2 COLQ CHRNA1 ORAI1 STIM1 CHAT CASQ1 PNPT1 GFPT1 CHRNE ALG14 SARS2 CNBP HP_MUSCLE_FIBER_SPLITTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_FIBER_SPLITTING CAPN3 NEB DNAJB6 CRYAB DYSF TTN ADSS1 TRPV4 ANO5 NEFH ACTA1 FLNC LDB3 TNXB MYH7 HP_VIRAL_INFECTION_INDUCED_RHABDOMYOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VIRAL_INFECTION_INDUCED_RHABDOMYOLYSIS SEPSECS TSEN34 TSEN54 TSEN2 TSEN15 DGUOK ALDOA HP_MUSCULAR_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCULAR_DYSTROPHY LARGE1 TRAPPC11 LAMA2 BUB3 SIL1 SGCB BUB1B SELENON BUB1 POMT2 PNKP CAPN3 FKRP DPM1 POMGNT1 CAV3 SCN5A B4GAT1 TRIP4 NPPA TTN DNAJB6 LMNA POMK SYNE1 ANO5 POMT1 COL4A1 B3GALNT2 FKTN DAG1 COL6A2 POMGNT2 CRPPA SGCG PLEC HNRNPDL RXYLT1 TRIM32 TMEM43 DMD CAVIN1 PSAT1 SMCHD1 DYSF TNPO3 TCAP COL6A1 HNRNPA2B1 LIPE SYNE2 CHKB MYH7 TOR1AIP1 RYR1 FRG1 SGCD CRYAB DPM3 HNRNPA1 PHGDH CEP57 NR0B1 FHL1 GMPPB AHCY COL6A3 SGCA BAG3 COL12A1 PIEZO2 TRIP13 ITGB4 GK LIMS2 BVES INPP5K ITGA7 ACTA1 EMD HP_BIRTH_LENGTH_LESS_THAN_3RD_PERCENTILE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIRTH_LENGTH_LESS_THAN_3RD_PERCENTILE SMPD4 PIK3R1 CDT1 ORC4 TBCE SMAD4 ORC6 PLAG1 EIF2S3 CDC6 DYRK1A B3GLCT HMGA2 ORC1 HP_DECREASED_LDL_CHOLESTEROL_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_LDL_CHOLESTEROL_CONCENTRATION SAR1B NGLY1 APOA5 CCT5 APOC3 FDFT1 MTTP APOB ANGPTL3 MSMO1 ALG6 PANK2 HP_LOW_PLASMA_CITRULLINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_PLASMA_CITRULLINE MT-TV CPS1 MT-ND3 MT-ND2 MT-ND4 PCK1 MT-ATP6 MT-TW MRM2 MT-TL1 MT-ND5 OTC MT-ND1 MT-ND6 MT-TK HP_INCREASED_TOTAL_BILIRUBIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_TOTAL_BILIRUBIN CPT2 POLG2 SLC4A1 KCNN4 PRKCSH SEC63 PIEZO1 PFKM LIPT1 PRF1 LRP5 HP_CONGENITAL_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_ONSET RSPH3 PLEC LAMB3 MYL1 TRMT10C ATP11C CCDC88C CHRNB1 ADGRG1 RRP7A POLR3A GLI1 POLE HPGD DSTYK STT3A EGR2 AP4E1 SLC25A24 HCN4 TBXT ERGIC1 MTO1 SVIL COL7A1 TRIP4 ALG9 VIM C2CD3 CRB2 PIGG MED25 NUP37 UBR7 FCSK DCPS NDUFA2 KAT5 IBA57 TBCE IER3IP1 BRAF ARL2 NAA10 TOP3A HOXB1 TPM3 CENPF ITPR1 CD8A TBCK KPTN GREB1L PRKACA PC ASPM LRP4 TSEN2 PGAP2 HPDL VLDLR MRPS16 DNAAF3 SLC16A2 RAPSN TMPRSS3 KANK1 CDK5 SOX18 GLS HBG2 EED SHMT2 KRT5 KLHL24 OTOF CHAMP1 ACKR3 BRPF1 JAM3 CIT MBTPS2 NR1H4 EP300 MEGF10 STIL NUAK2 NEDD4L WDR62 SLC6A9 LIPT2 SCN5A MYSM1 TMEM70 PAX6 COL25A1 CLCNKB TRIM36 KATNIP KARS1 OTUD5 AARS1 CREB3L1 ATP6V1B2 CHKB LMNB2 ITGB4 CHMP1A CCDC103 ZC4H2 SLC12A2 CCDC39 PYROXD1 ACTG2 EPG5 TFAM MFSD2A DOCK2 MMP1 FAT4 MRPS22 SSR4 MPDU1 PIGF SYNE1 IGBP1 PDHX CHRND LARS2 PCLO PPP1CB TUBB RHOA WT1 RFWD3 MKS1 WDR4 DPAGT1 POMGNT1 MARS2 AP4M1 FKRP EN1 DONSON RYR1 NUS1 CLDN10 ODAD4 SLC25A19 COG6 DCHS1 AP3B1 DNM2 RARS2 PITX1 TAF1 TELO2 EBP STT3B TSEN54 ITGA8 NKX2-1 CLP1 DPH1 ELOVL4 HDAC4 GMPPB EPS8 TMEM231 HELLS MPDZ COA5 CNOT1 KRT14 NEK8 CIB2 TASP1 DCT SELENON CHUK COL13A1 LAMA2 PDE4D PRKACB TUBGCP4 KIF5A YIF1B NODAL HOXA2 COX5A PRUNE1 DVL1 SREBF1 SMARCD2 SLC2A10 COASY ROBO3 DMXL2 COG1 CDSN CDC40 GJA1 CSPP1 CNTNAP1 COX6A2 TRAPPC14 HBA1 KRT1 FANCF ZBTB24 SLC1A4 CDK10 GDF11 B4GAT1 FLT4 BSND SLC6A6 KIAA1109 ELP1 GSC DPM2 CHAT DCC PEX12 POMK ASCC1 SNAP25 SLC39A8 ITGA6 IARS1 NDUFB11 FUT8 NCAPG2 WDR81 NUP88 LAMA3 ZNF335 MPC1 TTN ATP2B3 KY ATAD1 PSMC3 RNF13 CCND2 CHRNE NPHS1 NDE1 ACTA1 KLF1 JAG1 TBCD CENPJ PREPL PSAT1 EXOC2 MYO7A CDCA7 TARS2 POMT2 SMC1A MRPS14 LRRC56 PI4KA F13B BCL11A BSCL2 VRK1 AFF4 OFD1 COL1A2 ATN1 HK1 IGF1 COQ7 LGI4 PIGY SPTBN4 MOGS ABCD4 AP4B1 PHOX2B IGF1R F2 F13A1 MICOS13 RPL10 NALCN AP1S1 GPRASP2 C2orf69 EXOSC3 BCL11B MYH7 ATP8A2 PUF60 PLAA PSAP ATP5F1A RIPK4 STAMBP SERPINE1 UNC45B NRAS TXN2 TPM2 FKTN POMT1 BBS9 CLPB NDUFA4 TUBGCP6 PIGO ACP5 SIAH1 UROS RALA SLC25A4 HERC1 KATNB1 ARL6 PLK4 GSX2 BICD2 QRICH1 TRAPPC12 ABCA3 ERCC1 GLE1 TUBB3 VPS35L LZTFL1 KIFBP USP18 PEX5 CAPN15 CA8 CTSD CEP135 TOE1 UQCC3 PTRH2 FLNB ARHGEF9 ELP2 HRAS RAB3GAP1 AP3B2 ARMC9 GFM1 MBOAT7 PDE6D NDUFAF3 EIF5A TYR MECP2 LAMC2 SCO2 AP4S1 RMND1 LARGE1 GEMIN5 CLCNKA PIGN HS2ST1 LRTOMT KRAS TSEN15 HP_ADULT_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADULT_ONSET POLG2 MME POT1 CFAP58 CCNF ELMOD3 AKT2 WASHC5 ARMC5 ITPR1 NEUROD1 PRKG1 DRD5 GNE RNF170 GGCX MED25 VPS16 TNNI3 TTR MUC1 C1QBP IGF2BP2 GIPC1 CAPN3 MEFV DNMT1 PRNP DNAJB6 TNFAIP3 SUFU KNG1 NF2 MPEG1 NUTM2B-AS1 AAGAB FHOD3 CDH23 CD164 SLC25A4 TAF1 LMNA PRKCSH ANO5 SCN10A MYOT HNRNPDL ICOS APOE DMD TTN CFHR3 TREX1 ENO3 MYORG PLG RYR2 MN1 CTSF CPT1C LMF1 MICAL1 POLG RELN SLCO2A1 LAMA2 SDHAF2 ACTG1 PARN NOTCH3 AUH PDGFRB LDB3 TNPO3 MFAP5 PSAP DNAH8 IL6 TBP ARHGEF10 JUP RTEL1 F5 TTBK2 TIA1 CRYAB CYLD CCDC39 TNFRSF13C PTEN LMX1B LIPC NPC1 TOP3A PNKP GSN FMR1 ENPP1 PIK3CA ALDH5A1 WFS1 SYNE1 SDHC DYSF PAX4 MTOR MAPT POLE GNAS CHMP2B SPRY2 PABPN1 TFG FAT2 MCM6 APTX HNF4A RCBTB1 TERT INF2 CASR ABCA4 MAPK8IP1 ZNF687 SLC19A3 KCNJ11 SMN1 PTPN1 MTNR1B HLA-DRB1 FHL1 RFC1 TBK1 UBA1 TWNK OSMR UBQLN2 ANKH LMNB1 SLC30A8 ATXN1 CPOX VPS13D SPAG17 CFHR1 HGD BEAN1 LGI1 XPR1 SOCS1 SMARCE1 SLC4A11 IRS2 SDHD EEF2 GCK MAGT1 CASQ2 GCGR IKZF1 HMCN1 TMEM240 UQCRC1 PRKAG2 MARCHF6 SDHB MATR3 HNF1A DDX41 FTL PRKN VCP ATP13A2 CLN6 LYST PSEN2 COQ2 PSEN1 NOTCH2NLC EPAS1 BTNL2 PLD3 TNRC6A SDHA THSD1 GPD2 SMCHD1 GBA EIF2AK4 PNPLA2 SPG7 STUB1 CP TMEM43 RAPGEF2 ERBB4 XRCC2 DCTN1 COCH TGM6 DPM3 SLC7A6OS CAV3 PDX1 IRS1 RPS14 HAMP SNCA RETN ATP1A3 HSPB1 PARK7 TCF7L2 DNAJC5 FOXE3 PMVK CATIP AKT1 NAGA FLNC IL36RN PPARG TSC2 PDGFB CSF1R M1AP DES HJV NOL3 CEP78 GBE1 SEC63 HNF1B ABCC8 C9orf72 SLC2A2 SPG11 GDAP2 AR MPZ BSCL2 FBXO7 STARD7 TERC SAMD12 PPP1R3A TIE1 DGUOK HMGA1 SH3BP2 TRDN CCDC88C ATL1 VSX1 TSC1 SLC20A2 STIM1 DNAJB11 REC114 FBN1 TRPC3 KIF5A LRP12 HP_LATE_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LATE_ONSET MME IL6 HNF1A AKT2 TIA1 HNF4A CFHR1 BEAN1 NEUROD1 HNF1B ABCC8 SLC2A2 IRS2 MAPK8IP1 APOE GCK PDX1 IRS1 RPS14 KCNJ11 RETN LMX1B LIPC PTPN1 CFHR3 PPP1R3A HMCN1 HMGA1 IGF2BP2 ENPP1 THSD1 MTNR1B TCF7L2 GPD2 WFS1 UQCRC1 PAX4 AAGAB PPARG SLC30A8 LDB3 CYLD HP_INSIDIOUS_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INSIDIOUS_ONSET MAPT GLUD2 ATXN8OS SNCA TBP WASHC5 EIF4G1 NR4A2 OPA1 ADH1C MPZ ATL1 SPAST PMP22 NIPA1 SNCAIP GBA ATXN2 HP_INFANTILE_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFANTILE_ONSET LMNB1 NDUFS1 PCDH19 FCHO1 GNB2 NTRK1 SELENON SLC12A5 KCNH1 PDE10A GATAD2B AGK RNASEH2A AMMECR1 TJP2 YIPF5 MMADHC SLC6A5 METTL23 MIPEP HEXA MUSK CHD1 SVIL CCT5 TNFRSF11A DDB1 GJB3 ASH1L GRID2 MEFV TNFAIP3 TK2 GEMIN4 MPZ SPTAN1 SLC25A38 GFI1B GLRA1 NBEA RUBCN ATP6AP2 TBCE ADAM22 DHX30 NFE2L2 AIMP2 LCA5 NKX6-2 MRPL44 MAST1 CD247 TET2 DARS1 POMC CHRND NEXMIF CHRNE ZSWIM6 AKT1 ADK SLURP1 MECP2 SCN1A CYP1B1 MPV17 KCNMA1 DDX3X ASXL2 MYH7 ABCB4 DBR1 CHRNA1 BCS1L STAT3 NR1H4 DPAGT1 PINK1 PIK3CD SLC46A1 GATA1 SCN9A MIA3 VARS2 CLPX CCDC39 PYROXD1 PIGP PNPLA8 TMEM67 GLRB ACADVL RINT1 ATP6V0A4 ELANE NDUFA8 UVSSA DOCK8 VPS41 BRF1 GPHN EPO ALDH5A1 NAGA NDUFC2 ATPAF2 PHIP FCGR2A PSAT1 LCK MTOR RNASET2 SCN2A EXT2 CTNNB1 SLC6A8 SLC25A26 EEF1A2 SLC7A7 FMN2 KCNB1 CORO1A HUWE1 NDUFA10 EDC3 DPM1 GPR101 TGFB1 GRIN2D RDX PDHA1 GPD1 GCH1 PMP22 NDUFV2 ERCC4 RFT1 KCNT2 CEP104 MMP2 NARS2 ABCD3 PNPT1 GDAP1 MTRR EGR2 DCDC2 ILDR1 MRPL3 SETD1A DYNC1I2 ISCA1 ADNP PHKG2 SLC39A4 NEUROD2 YWHAG GABRB1 SPECC1L RERE ALG11 YIF1B COX5A HNF1A IKBKB PLA2G6 COG2 MACF1 TLK2 ACTL6B PDE2A PGAP1 PLG TMTC3 DOCK7 SCNN1A GPAA1 JAK3 SIL1 PMPCA WDR81 RANBP2 SACS CALM1 EIF2AK3 CWF19L1 LAMA3 ZNF142 DNAAF4 SLC2A1 LIPT1 SPR SUCLG1 SLC35A1 PCK1 SLC33A1 SNAP29 TTN KIDINS220 SMPD1 JAG1 TMEM94 ZAP70 SLC34A3 IDH3A LYST AASS BCL10 CCDC115 TBCD RUSC2 BAAT NLRP3 DAG1 GABRG2 TUBB6 NEB FRMPD4 MFN2 CHD2 ATG7 FRMD7 MAGEL2 GNAS PSMB8 HNRNPH2 RPSA ARFGEF2 SLC18A2 ERCC6 RPS26 COL6A1 SCNN1G PIGK IGHM TBX19 KRT86 CLDN11 RIPK1 AIFM1 TCIRG1 ACOX2 HIVEP2 PSAP MICOS13 VPS37A FLNA C2orf69 SPEG TIMMDC1 PLCG2 PNKD YME1L1 REST KDM5B TGM3 TXN2 MYO5A HAX1 MRPS25 GFPT1 ZNF462 SCN4A IL36RN NARS1 IL6R MED13L ALG13 FGF13 TRAPPC2L PLEKHG2 POMK CUX2 FCGR3A SARS2 NDUFA13 PET100 COPB1 NDUFAF1 PRDX1 IGLL1 TRMT1 GATM TSC1 GABRB3 EDEM3 PSPH NR3C2 NDUFV1 PGAP3 TMX2 DSC3 CTC1 SUCLA2 IQSEC2 NMNAT1 NDUFS4 GAD1 SAR1B ZMIZ1 HERC2 IREB2 RORC WDR73 VPS45 RPS28 CD19 NOS1AP FAR1 LRP5 RAG2 SPTBN2 EARS2 PARN CD3D RAG1 CD3E MVK PCDH12 FANCB ATP6AP1 PRF1 TBC1D24 ADGRV1 HEXB CD164 ADSL OTULIN PPP2CA NUP214 APC2 PTS PTPRQ CXCR4 ACOX1 TPP2 VAMP1 HADHA NLRP12 HNMT CPLX1 HIBCH GNB1 KCNA2 LRPPRC TRNT1 POMT1 NCDN PERP NLRP1 HPDL UBE2A QDPR FKTN L2HGDH ALS2 SDHD NFKBIA ATAD3A POLR3K CYP2R1 CDKL5 POMT2 LMAN2L MID2 AFG3L2 SLC6A3 ROR1 LIPA AUH PRX DEAF1 DCX ATP8B1 CAV1 FZD4 FARSB RPGRIP1L CYB5A GFAP TRIOBP TRAPPC9 CUL3 SLC25A12 ITPA IL21 MYMK SDHAF1 PNP CD79B POLG PIK3R1 P4HTM VAMP2 CARMIL2 WDR45B KITLG PDP1 PIGS TSHR TOGARAM1 CFTR ADA2 NDUFB8 COL6A3 SRD5A3 KDM4B PUS3 UPB1 KIF1A NDUFAF8 GRIK2 SCNN1B CLIC5 ARV1 PCDH15 BCORL1 RPL3L BOLA3 MRPS2 SCN3A WAC TBR1 ITGA7 GTPBP2 ADD3 HADHB NEMF FAM126A SLC5A6 RPL35A S1PR2 C12orf57 NDUFS2 TMEM251 HNRNPU ERCC8 HGD MMAA NGLY1 RYR1 RASGRP2 SI PITRM1 GARS1 KMT2E PAK1 RAB27A HCFC1 MMACHC COX6A2 KRT83 AP1S2 NLRC4 MRPS7 SLC6A6 GJC2 COX10 OPHN1 DHPS DCC CAD PTCHD1 TRAC FOXRED1 SYT1 LMBRD1 COX4I2 CD59 PRMT7 KLHL7 VARS1 CTDP1 WDR26 DLAT COL6A2 VDR CA12 PLP1 SON KCTD7 UQCC2 GJB2 WNK1 FERMT3 NOTCH2NLC TUBGCP2 CAVIN1 IFT140 ACADSB EXOC2 IMPDH1 TCF3 DDOST ACO2 AGO2 TCTN2 SDHA STXBP2 NBAS NCKAP1L TRPA1 HCN2 FOXP1 COQ6 ADAT3 MTX2 JPH1 KRT81 TRPM6 PHOX2B CHD3 CACNA2D2 SASH1 PAX2 ALG14 PIGT HSD17B10 EBF3 IL2RG VPS33A STX11 KDELR2 DRC1 CARD11 TRDN GP6 ABCB11 UNC45B MLC1 COLQ MFF CPT2 KCNQ2 ANGPT2 LARGE1 VPS53 TSC2 IL37 HEPACAM SOST RPS19 BRAT1 CARD14 TRIT1 NGF RETREG1 GRM1 BLNK GRIN1 COL12A1 PRKDC MTFMT HIKESHI AP3B2 TUFM HYDIN DLG4 AMTN MCOLN1 ADGRG1 PSMG2 SEPSECS ADAR TH TTI2 DNAAF5 KCNJ10 AMBN SNX14 GEMIN5 DDC TBL1X MTR NDUFB9 HP_MIDDLE_AGE_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIDDLE_AGE_ONSET MME LMNA PSAP CCNF APOE TIA1 LGI1 FTL SOCS1 DRD5 PRKN VCP VPS16 PSEN2 MPZ NOTCH2NLC SNCA LMX1B IKZF1 TMEM240 SDHA THSD1 MICAL1 UBA1 UQCRC1 PMVK KNG1 EIF2AK4 RELN FBN1 CYLD LRP12 CHMP2B HP_ANTIPHOSPHOLIPID_ANTIBODY_POSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTIPHOSPHOLIPID_ANTIBODY_POSITIVITY PRKCD CASP10 STAT4 ADA2 FCGR2B PTPN22 STING1 FAS FASLG STAT1 DNASE1 SPP1 RASGRP1 CTLA4 IRAK1 TREX1 FCGR2A HP_JUVENILE_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JUVENILE_ONSET PHKG2 CASP10 ARL3 MPV17 PET117 CD19 NDRG1 CFH SGCB ITPR1 LGI1 NCF1 SOCS1 SLC19A1 PLP1 LITAF VPS16 TGFB1 HPCA MAGT1 TNNI3 DOK7 ASAH1 CASQ2 PYGM DNM2 RETREG1 COX20 CC2D1A IKZF1 LDHA SVIL CCT5 KIRREL1 CLDN16 DDB1 MEFV TNFAIP3 PRKAG2 NCF2 CYBA NDUFAF6 CACNB4 PANK2 NUP133 LMNB2 SPG11 GLA NPHS2 NUP107 GALNT3 GALNS ATP2B3 EIF2B1 IMPG2 PRKN KCNA1 CBLIF CSTB COL6A2 IDH3A ABCB7 NLGN4X NLRP3 TACO1 NAGLU SLCO2A1 CHST6 CFI RYR2 EIF2B5 BAAT FXN DBR1 MICAL1 MYH9 ISCU EIF2AK4 LIPA STAT3 RELN LAMA2 MPZ SGCE CD4 GNAS SCN9A EGR2 TNPO3 CTNS TPM3 TPP1 PIK3CD ATP8B1 GLB1 GAN NLGN3 HPDL ATP13A2 EMD CYBB SLC52A3 DPM3 CCDC39 PYROXD1 PMP22 SLC7A6OS NEFL LMX1B ALS2 NPC1 SLC12A3 REST CLCN7 TNFRSF4 SBF2 GFPT1 TREX1 ALDH5A1 UMOD MIEF2 ACP5 PAPPA2 EIF2B4 EXT2 IL36RN GAL ADA2 EIF2B2 WARS1 MCM6 APTX RCBTB1 ATP7A CASR TRPV4 NKX2-1 ABCA4 ADCY5 PNPLA6 DDHD1 SLC19A3 BSCL2 SGCA ITK SMPD1 TIE1 SH3BP2 TRDN COL9A1 MMP2 LMNA MFSD8 EIF2B3 CPA6 FBN1 DAAM2 EXT1 LRP12 HP_NEONATAL_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_ONSET GAD1 SPTBN4 HSD17B4 STING1 AKR1D1 RIPK1 NEUROG3 ARHGDIA PPP1R21 PHOX2B OXCT1 KRT14 PIGU NOS1AP SLC1A2 RYR1 ASL STX3 ACADS C2orf69 MYO1H NLRC4 TJP2 MMAB EBF3 IL2RG PIGP DRC1 ATP6AP1 CYP7B1 CARMIL2 ACADVL ATP6V0A4 COX16 IL1RN TMEM240 TNFRSF11A KCNQ2 COX10 RP1L1 SFTPB CALM1 SLC10A1 SH3PXD2B KRT5 IL36RN ASS1 LAMB2 ADA2 AQP2 ATP6AP2 UPF3B CYP11B2 SUCLG1 DNAL1 KCNB1 ARX HADHA PSMB10 GDAP1 HSPD1 TRNT1 ARG1 FGF13 LYST HSD3B7 IRS4 COL12A1 SLC35A2 NDUFAF4 STXBP1 HPDL CYP11B1 SCN9A AP3B2 MCIDAS KCNJ11 SELENOI RPL3L TNNT1 AMACR SHMT2 ARL13B SCN3A NLRP3 SLC51B STAT3 NR1H4 MRPL3 HADHB AVPR2 SMARCAD1 BRAF SLC10A2 HP_LOSS_OF_SUBCUTANEOUS_ADIPOSE_TISSUE_IN_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOSS_OF_SUBCUTANEOUS_ADIPOSE_TISSUE_IN_LIMBS PLIN1 ZMPSTE24 PPARG LMNB2 LMNA MTX2 CIDEC LIPE CAV1 HP_HEMOGLOBINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMOGLOBINURIA HELLPAR PIGA PIEZO1 NT5C3A G6PD CD59 CASK PIGT CFI CFH CD46 HP_TYPE_I_TRANSFERRIN_ISOFORM_PROFILE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_I_TRANSFERRIN_ISOFORM_PROFILE SSR4 ALG3 PGM1 ALG6 PMM2 DDOST ALG8 MAGT1 DPM1 ALG1 ALG11 DPAGT1 DPM3 ALG13 ALG2 SRD5A3 DPM2 MPI HP_PROLONGED_PARTIAL_THROMBOPLASTIN_TIME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_PARTIAL_THROMBOPLASTIN_TIME F5 EFL1 HLA-DQB1 F8 PMM2 SOS1 DPM1 F2 HLA-DQA1 GATA6 LMAN1 MCFD2 GGCX KLKB1 F12 LZTR1 F11 F9 ABCD3 ALG12 F10 GNE HP_BICARBONATURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BICARBONATURIA GATM NDUFAF6 ALDOB EHHADH OCRL SLC34A1 HP_LACTICACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACTICACIDURIA NDUFS4 MT-TV SUCLG1 MT-ND3 MT-ND2 MT-ND4 NDUFB10 PET117 MT-ATP6 MT-TW SLC25A21 MT-TL1 MT-ND5 GATM MT-ND1 MT-ND6 LDHD NFS1 MT-TK PDP1 SDHD HP_FOAM_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOAM_CELLS NPC1 SMPD1 SC5D LIPA LCAT HLA-DRB1 ASAH1 GLB1 CSF2RA NEU1 CSF2RB NPC2 HP_HYPOMETHIONINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOMETHIONINEMIA MTRR MTHFR PRDX1 MMACHC MTR MMADHC HP_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ONSET MME POT1 LAMB3 PCDH19 ATP11C CCDC88C NTRK1 SELENON PRKG1 CHRNB1 DRD5 PDE10A ADGRG1 LACC1 GNE GLI1 GATAD2B CRB1 AGK VPS16 HPGD TGFB1 FECH RNASEH2A STT3A TNNI3 EGR2 TJP2 MUC1 MMADHC HCN4 SLC6A5 METTL23 HEXA MUSK TBXT SVIL CCT5 PLEC VIM ASH1L GRID2 DNMT1 TK2 MPZ SPTAN1 NUP37 GFI1B FHOD3 NBEA DCPS KAT5 IER3IP1 LMNA ADAM22 BRAF SPG11 DNAL1 PRPS1 NFE2L2 NAA10 TPM3 GALNT3 CENPF AIMP2 LCA5 NKX6-2 MRPL44 MAST1 CD247 TET2 SCN10A NEXMIF CHRNE PC IRS4 APOE ASPM GNB2 ZSWIM6 VLDLR AKT1 MRPS16 SLURP1 TREX1 RAPSN CFI CYP1B1 RYR2 GLS ASXL2 MN1 MYH7 MICAL1 CHRNA1 MYH9 ACKR3 JAM3 BCS1L STAT3 DPAGT1 PDGFRB TNPO3 TGFBR1 LIPT2 PINK1 SLC46A1 TMEM70 PAX6 CREB3L1 SCN9A TBP ARHGEF10 RTEL1 KIF1B ITGB4 VARS2 ASL CCDC103 CCDC39 KCNMA1 NEFL MMAB PIGP FAT4 LMX1B TMEM67 POLG ATP6V0A4 ELANE PDHX NDUFA8 UVSSA CHRND LARS2 VPS41 CUBN RP1L1 GPHN ALDH5A1 NAGA NDUFC2 MIEF2 RFWD3 SFTPB ATPAF2 POMGNT1 PHIP SYNE1 SLC5A7 DYSF LCK MTOR SCN2A MYOT EXT2 FKRP POLE CTNNB1 GNAS CYLD CHMP2B EEF1A2 SLC7A7 FMN2 KCNB1 TFG WARS1 NDUFA10 HNF4A GRIN2D INF2 CYP3A4 RARS2 PITX1 GPD1 GCH1 PMP22 NDUFV2 KCNJ11 ITGA8 RFT1 CLP1 KCNT2 SELENOI GATA1 COL9A1 HLA-DRB1 ABCD3 FHL1 RFC1 TBK1 GDAP1 MTRR CNOT1 ILDR1 LMNB1 ADNP CHUK NEUROD2 COL13A1 YWHAG CPOX ARL3 RERE PPP1R21 SGCB SPAG17 LGI1 ALG11 HOXA2 XPR1 SOCS1 COX5A SLC19A1 SMARCE1 HNF1A PLA2G6 COG2 SLC2A10 COASY MACF1 COG1 CASQ2 CDC40 PGAP1 OCRL PLG HBA1 SCNN1A LDHA CDK10 JAK3 GDF11 SIL1 ZNF711 IL1RN WDR81 KIAA1109 GSC POMK SACS CALM1 PRKAG2 CWF19L1 IARS1 ZNF142 SLC2A1 PANK2 SPR NUP133 SUCLG1 GLUL NPHS2 ZNF335 MPC1 PCK1 SLC33A1 SNAP29 KIDINS220 TIA1 FTL JAG1 TMEM94 SLC34A3 CSTB LYST AASS BCL10 ABCB7 NDE1 CCDC115 SLCO2A1 MEFV CENPJ SMPX THSD1 LRRC56 NLRP3 F13A1 PI4KA ARL13B NEB CHD2 ATG7 EIF2AK4 VRK1 FRMD7 AFF4 PSMB8 HNRNPH2 SLC18A2 ERCC6 ATN1 RPS26 IGF1 COL6A1 TPP1 RAPGEF2 SPTBN4 IGHM SYNE2 CLDN11 RIPK1 AIFM1 ACOX2 NLGN3 IGF1R HIVEP2 PSAP ACADS TIMMDC1 EXOSC3 PLEKHG5 BCL11B RPS14 ALS2 PNKD REST CLCN7 KDM5B TGM3 TXN2 TCF7L2 FKTN CLPB UMOD TUBGCP6 PIGO PLCE1 PMVK RALA SLC25A4 GFPT1 SCN4A FLNC IL36RN PPARG NARS1 QRICH1 ABCA3 COG6 GLE1 DES TUBB3 KIFBP CA8 GBE1 SEC63 TSEN54 C9orf72 TOE1 FGF13 TRAPPC2L SLC2A2 ADCY5 PLEKHG2 XPC AR FCGR3A PET100 ELP2 DCTN1 POMT2 PRKAR1A LIMS2 HMGA1 IGLL1 PDE6D EIF5A TYR ATL1 VSX1 TSC1 GABRB3 EDEM3 SLC20A2 NDUFV1 PGAP3 STIM1 SUCLA2 CPA6 IQSEC2 SMARCAD1 DIAPH1 NMNAT1 LRTOMT NDUFS4 SAR1B ZMIZ1 HERC2 IREB2 RORC CFAP58 ELMOD3 VPS45 CD19 AKT2 OXCT1 FAR1 STX3 TRPV4 RNF170 POLR3A RAG2 DSTYK SPTBN2 EARS2 HPCA SLC25A24 CD3D CD3E PYGM ATP6AP1 ERGIC1 RPS29 PRF1 DNAJB6 TBC1D24 SUFU KNG1 ADGRV1 HEXB AAGAB CDH23 F2 AQP2 ADSL PPP2CA NUP214 APC2 IBA57 GLA CXCR4 TOP3A HOXB1 VAMP1 HADHA CD8A HNMT CPLX1 ANO5 TBCK GNB1 KCNA2 LRPPRC PRKACA NCDN CLCN1 FLVCR1 PERP HNRNPDL CBLIF TSEN2 HPDL QDPR L2HGDH NFKBIA MYORG CHST6 CYP2R1 TMPRSS3 MID2 CTSF EED KRT5 KLHL24 LIPA MBTPS2 RELN LAMA2 STIL ACTG1 CD4 PARN NOTCH3 AUH WDR62 LDB3 SLC6A9 PRX DEAF1 MFAP5 SCN5A MYSM1 ATP8B1 CAV1 TRIM36 FZD4 FARSB STING1 ATP6V1B2 CHKB LMNB2 CYB5A TRIOBP SLC1A2 ZC4H2 FARSA TRAPPC9 CUL3 ACTG2 EPG5 IL21 TNFRSF13C TFAM DOCK2 PNP CD79B CYP26B1 P4HTM MPDU1 CARMIL2 WDR45B TPM2 KITLG GSN MS4A1 PDP1 COL1A1 PIGS WFS1 TUBB TSHR PAPPA2 SH3PXD2B CFTR EN1 DONSON COL6A3 SRD5A3 MVK LRP5 MECP2 SPRY2 KDM4B MCM6 SLC25A19 DCHS1 AP3B1 PTEN MTHFR UPB1 AIRE AAAS NKX2-1 ABCA4 ZNF687 TAF1 EBP NDUFAF4 SMN1 ITK MCIDAS CLIC5 ARV1 MTNR1B BCORL1 RPL3L BOLA3 SCN3A MFSD8 WAC OSMR UBQLN2 ITGA7 MAPT DCT HADHB NEMF FAM126A SLC30A8 S1PR2 SCN1A NDUFS2 TMEM251 VPS13D PRKACB KIF5A CFHR1 MMAA NGLY1 NCF1 NODAL SI PRUNE1 GARS1 KMT2E GCK DMXL2 CDSN GJA1 CSPP1 KRT83 IKZF1 SCUBE3 ZBTB24 MRPS7 MCM10 FLT4 BSND SLC6A6 GJC2 PDE11A KIF20A COX10 OPHN1 UQCRC1 DCC PEX12 CAD SNAP25 PTCHD1 WT1 FOXRED1 SYT1 LMBRD1 NDUFB11 KLHL7 VARS1 CYP11B2 NUP88 MATR3 CTDP1 NUP107 WDR26 DLAT PSMB10 VDR EIF2B1 CA12 KY HSPD1 KCNA1 ATP13A2 CLN6 UQCC2 COQ2 SLC35A2 PSEN1 NOTCH2NLC PREPL BTNL2 PSAT1 ACADSB EXOC2 IMPDH1 MYO7A TCF3 DDOST ACO2 SMC1A GPD2 TCTN2 SDHA F13B NBAS NCKAP1L OFD1 TRPA1 COL1A2 PNPLA2 PLCG2 HK1 COQ6 TMEM43 JPH1 PIGY NEUROG3 ERBB4 GREB1L TGM6 DPM3 PAX2 ALG14 SNRPN SNCA VPS33A STX11 KDELR2 ATP1A3 HSPB1 RIPK4 STAMBP TRDN ABCB11 SERPINE1 UNC45B MLC1 KCNQ2 POMT1 NDUFA4 CPT2 ANGPT2 VWA1 UROS CATIP ATP5F1A TSC2 CYP11B1 IL37 DYNC1H1 PDGFB HJV BRAT1 NOL3 LZTFL1 CTSD NGF RETREG1 HNF1B ABCC8 PRKDC MTFMT HRAS SGCA CHRNA4 FBXO7 TERC SMPD1 AP3B2 TUFM RYR1 NDUFAF3 DLG4 MCOLN1 ADAR TH TNNT1 TTI2 TACSTD2 KCNJ10 AMBN SCO2 EIF2B3 AP4S1 TRIP4 RMND1 LARGE1 SNX14 DAAM2 TBL1X CLCNKA NDUFB9 MPV17 NDUFS1 MYL1 FCHO1 WASHC5 SLC12A5 KCNH1 NEUROD1 TBC1D2B MED25 PLP1 LITAF DOK7 TTR AMMECR1 AP4E1 YIPF5 ACSL4 MIPEP CHD1 IGF2BP2 KIRREL1 COL7A1 TNFRSF11A DDB1 ALG9 GJB3 CAPN3 PRNP TNFAIP3 C2CD3 CRB2 GEMIN4 SLC25A38 NCF2 UBR7 FCSK GLRA1 RUBCN ATP6AP2 NDUFA2 TBCE ARL2 DHX30 RTN4IP1 ITPR1 GALNS DARS1 IMPG2 POMC ICOS KIAA0753 STXBP1 DMD ADK CFHR3 DNAAF3 ENO3 SLC16A2 SOX18 DDX3X ABCB4 DBR1 OTOF CHAMP1 ISCU NR1H4 MEGF10 SGCE COPA NEDD4L PIK3CD KATNIP DNAH8 OTUD5 IL6 GAN OBSL1 MIA3 EMD F5 CLPX SLC12A2 PYROXD1 NPC1 PNPLA8 SSR4 GLRB ACADVL RINT1 IGBP1 PNKP COX16 FMR1 DOCK8 BRF1 PPP1CB EPO MKS1 WDR4 FCGR2A PAX4 RNASET2 AP4M1 PEPD SLC6A8 SLC25A26 PABPN1 CORO1A FAT2 HUWE1 EDC3 DPM1 GPR101 RDX NFKB2 PDHA1 TELO2 NPC2 ERCC4 PTPN1 DPH1 HDAC4 CEP104 MMP2 NARS2 HELLS MPDZ UBA1 PNPT1 COA5 POLA1 KRT14 NEK8 ANKH DCDC2 TASP1 MRPL3 SETD1A AVPR2 DYNC1I2 ISCA1 SLC10A2 ATXN1 PHKG2 SLC39A4 CASP10 GABRB1 SPECC1L PET117 PDE4D BEAN1 YIF1B IKBKB DVL1 SLC4A11 IRS2 SREBF1 MYO1H MAGT1 TLK2 ACTL6B PDE2A CNTNAP1 COX20 TMTC3 DOCK7 KRT1 GPAA1 B4GAT1 FGD4 PMPCA TMEM240 CHAT RANBP2 SLC10A1 ASCC1 SLC39A8 EIF2AK3 LAMA3 DNAAF4 LIPT1 CACNB4 UPF3B SLC35A1 MYH11 TTN SOS1 DDX41 ATAD1 PSMC3 VCP RNF13 ZAP70 CCND2 COL6A2 NPHS1 BICC1 IDH3A ACTA1 KLF1 SAMD9 TBCD TACO1 RUSC2 CDCA7 BAAT KIF5C DAG1 GABRG2 TUBB6 SMCHD1 FRMPD4 MFN2 MAGEL2 NUS1 SPG7 RPSA ARFGEF2 CTNS SCNN1G PIGK COQ7 PPT1 LGI4 MOGS ABCD4 TBX19 KRT86 AKR1D1 TCIRG1 PIGU MICOS13 RPL10 NALCN VPS37A AP1S1 COCH GPRASP2 FLNA C2orf69 SPEG SLC7A6OS CAV3 PDX1 MNS1 PLAA RETN YME1L1 MYO5A DNAJC5 HAX1 SIAH1 MRPS25 ZNF462 KATNB1 GAL ARL6 GSX2 IL6R TRAPPC12 MED13L M1AP ERCC1 ARX USP18 PEX5 CAPN15 ALG13 PNPLA6 CUX2 SARS2 FLNB NDUFA13 BSCL2 STARD7 COPB1 NDUFAF1 PPP1R3A PRDX1 TRMT1 SH3BP2 GATM ARMC9 PSPH AMACR NR3C2 TMX2 DSC3 CTC1 REC114 FBN1 TRPC3 HS2ST1 POLG2 GAD1 RSPH3 CCNF TRMT10C WDR73 RPS28 CFH ARMC5 NOS1AP RRP7A GGCX ASAH1 RAG1 PCDH12 FANCB C1QBP MTO1 GIPC1 COL9A2 PIGG NF2 MPEG1 NUTM2B-AS1 ASS1 LAMB2 CD164 OTULIN PTS PTPRQ ACOX1 TPP2 NLRP12 PRKCSH HIBCH KPTN TRNT1 ARG1 NLRP1 LRP4 PGAP2 UBE2A SDHD NAGLU ATAD3A POLR3K SPART ALAS2 CDKL5 KANK1 LMAN2L EMC10 CDK5 EIF2B5 HBG2 AFG3L2 CPT1C SLC6A3 LMF1 SHMT2 BRPF1 ROR1 CIT EP300 SDHAF2 XYLT1 AQP5 NUAK2 NLGN4X DCX COL25A1 CLCNKB KARS1 AARS1 RPGRIP1L GLB1 JUP GFAP CHMP1A TTBK2 FRG1 CYBB CRYAB SLC25A12 ITPA NLRC4 MYMK SDHAF1 MFSD2A MMP1 LIPC MRPS22 PIK3R1 VAMP2 PIGF SLC12A3 CYP7B1 ENPP1 SBF2 PCLO PIK3CA RHOA PLEKHM1 SDHC TOGARAM1 MARS2 BIN1 CLDN10 ADA2 NDUFB8 ODAD4 EIF2B2 APTX PUS3 RCBTB1 DNM2 TERT KIF1A CASR NDUFAF8 MAPK8IP1 STT3B SLC19A3 GRIK2 SCNN1B ELOVL4 GMPPB EPS8 TMEM231 PCDH15 MRPS2 TWNK SLC51B TBR1 CIB2 GTPBP2 ADD3 SLC5A6 RPL35A C12orf57 LMOD1 ARHGDIA HNRNPU ERCC8 NDRG1 TUBGCP4 HGD RASGRP2 PITRM1 SMARCD2 EEF2 PAK1 SLC34A2 ROBO3 RAB27A HCFC1 GCGR MMACHC KIF3B COX6A2 TRAPPC14 AP1S2 CC2D1A FANCF HMCN1 SLC1A4 CLDN16 ELP1 DHPS DPM2 DYNC2LI1 CNP ITGA6 TRAC COX4I2 COA8 CYBA CD59 PRMT7 FUT8 MARCHF6 NDUFAF6 SDHB NCAPG2 GUCY2D ATP2B3 SON KCTD7 PRKN PSEN2 HSD3B7 GJB2 WNK1 FERMT3 TIMM8A TUBGCP2 CAVIN1 EPAS1 IFT140 PLD3 TNRC6A TARS2 AGO2 MRPS14 FXN UFSP2 IL21R STXBP2 GBA BCL11A HCN2 FOXP1 STUB1 CP CFB ADAT3 MTX2 KRT81 ABHD12 AP4B1 HABP2 TRPM6 HSD17B4 PHOX2B CHD3 CACNA2D2 XRCC2 RNF2 SASH1 SLC52A3 PIGT ATP8A2 IRS1 PUF60 HAMP HSD17B10 EBF3 IL2RG DRC1 CARD11 GP6 PARK7 TNFRSF4 NRAS COLQ MFF FLG BBS9 ACP5 FOXE3 HERC1 VPS53 EIF2B4 PROM1 PLK4 BICD2 HEPACAM CSF1R SOST RPS19 VPS35L CARD14 CEP78 TRIT1 ATP7A CEP135 GRM1 BLNK GRIN1 UQCC3 COL12A1 GDAP2 DDHD1 PTRH2 ARHGEF9 HIKESHI RAB3GAP1 SAMD12 HYDIN TIE1 DGUOK GFM1 MBOAT7 AMTN PSMG2 SEPSECS DNAAF5 LAMC2 GEMIN5 DNAJB11 DDC MTR PIGN EXT1 LRP12 KRAS TSEN15 SPG21 HP_PROGRESSIVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE POLG2 MAPT MPV17 NDUFS1 REPS1 IREB2 WASHC5 MECR RNASEH1 EXOSC9 NUP107 RTN2 TTR ASAH1 TJP2 UBAP1 COL4A3 NDUFS7 SQSTM1 LMNB2 DNMT1 LMNA TK2 ADH1C LAMB1 EMC1 SLC39A14 GRHL2 NAGLU RUBCN SLC25A4 NUP214 IBA57 TBCE ERLIN2 CERS1 CCNO AIMP2 NKX6-2 HINT1 QARS1 SGPL1 DARS1 ZFYVE26 GOSR2 KMT2B KIF5A XRCC1 HPDL AKT1 CFHR5 SNORD118 ADK TNFRSF11A ALS2 TREX1 PIK3R5 ISCA2 MYORG MRE11 INF2 SOX18 COL4A4 CTSF AFG3L2 SLC6A3 CHRND PIEZO2 FHL1 LYRM7 MGME1 ANTXR2 PDGFRB NALCN GBA ERLIN1 RBCK1 TBP VCP MARS1 KCNC1 TRAPPC6B C19orf12 OPA1 TFAM MFSD2A PNPLA8 ADA2 POLG KCTD17 ANO5 DIABLO WDR45B SYNE1 NDUFAF2 AP5Z1 CACNA1A PCLO POLR3A MTAP NDUFA12 COL6A3 SETX AGTPBP1 TYMP SPRY2 GLUD2 PABPN1 DPM1 EPRS1 CRAT KIF1A PUM1 AAAS RARS2 MOCS1 MTRFR RNASEH2C TNFRSF11B CHCHD10 VPS13A GNS ABCD3 PKD2 TBK1 MAP2K1 UBQLN2 DCDC2 SIGMAR1 LMNB1 FIG4 AARS2 NUP160 ISCA1 PDGFB STUB1 FA2H ABCD1 MYO1E MED17 ACER3 XPR1 PRUNE1 PRICKLE1 KCNK3 GBA2 DRD3 SNCAIP SMAD9 MRPS34 POMGNT1 RETREG1 ATXN8OS ELP1 PMPCB CAD ASNS PCNA SEC61A1 CSF1R WT1 KIF1C KCNQ4 VARS1 DDHD2 NUP133 MAPKBP1 RRM2B COL6A2 SLC33A1 DMXL2 INPP5K ATXN3 ATAD1 FTL KCTD7 COQ8B PDXK MOCS2 COPB2 DEGS1 TBC1D24 COQ2 PRKRA SYNJ1 TWNK NUP85 DNM1L SLC44A4 VRK1 GNAS NEFH NIPA1 COL6A1 UBA5 ALDH18A1 SLC12A6 SBF1 AIFM1 SNCA MICOS13 POLR3B B4GALNT1 COCH SLC9A1 NR4A2 TUBB4A SLC52A3 NUP93 KLC2 SMN1 COASY PRDM8 DGKE KCNT1 PLA2G6 VPS13C ATXN2 COL4A5 NBEAL2 FAN1 CYP7B1 MFF MECP2 TXN2 CLPB UMOD MYH14 AIMP1 PLCE1 VPS53 PEX16 TRAPPC12 SOST IRF2BPL SLC52A2 YARS2 TRAK1 BRAT1 VAC14 PYCR2 BSCL2 TRAPPC2L PNPLA6 UCHL1 SPG11 SPAST PTRH2 ELP2 SMN2 SGCA TTN LIMS2 NOP56 ATL1 SLC20A2 CTC1 HK1 GEMIN5 DNAJB11 HSPD1 FKTN TRPC3 STIM1 NDUFB9 GPT2 HP_SLOWLY_PROGRESSIVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLOWLY_PROGRESSIVE MME MARS1 SYT14 MORC2 PDYN ITPR1 PDK3 RYR1 LRP5 GBA2 EEF2 SLC34A2 SPTBN2 HPCA ALG2 DNM2 TMEM240 DNM1L TTN DNAJB6 ATP1A1 ORAI1 LRRK2 TENM4 CWF19L1 FARS2 MYH7 PEX2 PANK2 HEPACAM SPG11 FBXO38 FGF14 COX6A1 ERLIN2 ALG14 KIF1A DNAJC6 NLRP3 PLP1 GYG1 KY CHCHD10 MYOT ACTA1 POMT1 FLVCR1 HNRNPDL MTPAP MYPN CLCN5 LMNA TRIM32 WNK1 PRKCG ALS2 MECP2 TBC1D24 PLD3 IGHMBP2 CPT1C FN1 DYNC1H1 MCM3AP CRPPA MCM2 DAB1 DYSF LAMA2 MPZ PNPLA2 GRM1 DPAGT1 SCN9A PINK1 TMEM43 TPP1 BSCL2 ABHD12 AP4B1 FZD4 DNAJB2 SURF1 CHKB ATP6AP2 GAN VWA3B TOR1AIP1 KCND3 COA7 KIF1B B4GALNT1 EMD MAP3K20 FRG1 TIA1 GARS1 AFG3L2 COL6A1 CRYAB TGM6 GJB1 ALDH18A1 PYROXD1 PMP22 MYMK DARS2 FZD6 COL6A2 HSPB1 PRX PARK7 IBA57 KCNC3 CACNA1G SLC25A4 DNA2 SYNE1 SLC5A7 MAG RNASET2 FLNC AIFM1 HSPB3 DZIP1L CFL2 SETX PMP2 POGLUT1 KBTBD13 TFG WARS1 FAT2 MTMR14 NOL3 TEAD1 ATP7A GBE1 GNB4 SIGMAR1 RETREG1 VMA21 ADSS1 ELOVL5 ACTN4 GDAP2 DDHD1 AR NDUFA13 DCTN1 SMN1 FBXO7 C19orf12 PEX10 REEP2 CCDC88C CLN8 RFC1 PDE8B STIM1 NEFL COL6A3 LRP12 MFN2 SPG21 LRSAM1 HP_RAPIDLY_PROGRESSIVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RAPIDLY_PROGRESSIVE CSF1R PANK2 FHL1 NPHS2 HLA-DQB1 ARHGDIA NHLRC1 DNAJC6 BAG3 DCTN1 PEX10 DYSF ATP13A2 NAXE SGCG GRN C9orf72 PLEC NPHS1 PLEKHG5 PSEN1 SNCA SCARB2 POLG PRNP DNAJC5 EPM2A MFSD8 GDAP1 NR1H4 LYRM7 PLA2G6 PNKP CRYAB TARDBP COQ6 APOE HP_PACE_OF_PROGRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PACE_OF_PROGRESSION MME MPV17 NDUFS1 SYT14 WASHC5 MECR PDYN SELENON PDK3 NUP107 RTN2 GRN TTR TJP2 COL4A3 SQSTM1 LMNB2 DNMT1 PRNP LMNA TK2 SLC39A14 GRHL2 FARS2 MYH7 RUBCN TBCE SPG11 FGF14 COX6A1 CERS1 CCNO AIMP2 NKX6-2 HINT1 QARS1 DNAJC6 NLRP3 GYG1 SGPL1 DARS1 CHCHD10 NAXE SGCG ZFYVE26 CHRNE KIF5A VLDLR AKT1 TRPV4 ADK TREX1 MECP2 TBC1D24 SOX18 COL4A4 CRPPA DYSF NR1H4 MPZ DPAGT1 PDGFRB TNFRSF11A PINK1 CLDN14 TBP GAN KIF1B EMD MAP3K20 PYROXD1 DARS2 YEATS2 FZD6 PNPLA8 ADA2 POLG DIABLO AP5Z1 CACNA1A SYNE1 SLC5A7 MTAP RNASET2 NDUFA12 MYOT GLUD2 PABPN1 TFG WARS1 FAT2 DPM1 EPRS1 CRAT PUM1 RARS2 ELOVL5 KRT12 RNASEH2C C19orf12 REEP2 VPS13A GNS ABCD3 RFC1 PKD2 TBK1 MAP2K1 GDAP1 DCDC2 ILDR1 SIGMAR1 PLA2G6 COL6A3 LMNB1 ISCA1 LRSAM1 ACER3 XPR1 PRICKLE1 KCNK3 GBA2 SMAD9 ATXN8OS DNM2 PMPCA TMEM240 DNM1L ASNS CWF19L1 SEC61A1 CSF1R KIF1C PEX2 PANK2 HEPACAM NUP133 NPHS2 HLA-DQB1 SLC33A1 INPP5K KIF1A ATXN3 ATAD1 FTL COQ8B PDXK PLEC COPB2 COL6A2 NPHS1 MYPN SYNJ1 SCARB2 TWNK FN1 EPM2A TUBB6 MCM2 VRK1 GNAS GRM1 ATN1 COL6A1 SCN9A TPP1 ALDH18A1 SLC12A6 DNAJB2 AIFM1 SNCA HPDL KCND3 MICOS13 COCH GARS1 TUBB4A NUP93 SMN1 PLEKHG5 PRDM8 ALS2 NBEAL2 PRX FAN1 KCNC3 TXN2 DNAJC5 CLPB UMOD AIMP1 SLC25A4 PLCE1 GFPT1 FLNC PEX16 CFL2 TRAPPC12 SETX IRF2BPL FHL1 SLC52A2 YARS2 BRAT1 VAC14 BAG3 PEX10 BSCL2 GBE1 GNB4 C9orf72 TRAPPC2L ADSS1 PNPLA6 UCHL1 SPAST AR NDUFA13 ELP2 DCTN1 SMN2 STARD7 LIMS2 NOP56 CCDC88C ATL1 SLC20A2 STIM1 CTC1 HK1 TRPC3 CRYAB APOE POLG2 MAPT REPS1 IREB2 NHLRC1 RNASEH1 ITPR1 EXOSC9 LRP5 SPTBN2 HPCA ASAH1 UBAP1 NDUFS7 DNAJB6 ATP1A1 ADH1C LAMB1 LRRK2 TENM4 EMC1 NAGLU NUP214 IBA57 FBXO38 ERLIN2 HOXB1 ACTA1 POMT1 FLVCR1 HNRNPDL GOSR2 KMT2B CLCN5 XRCC1 PRKCG CFHR5 TTN SNORD118 PIK3R5 ISCA2 MYORG MRE11 INF2 CTSF AFG3L2 CPT1C SLC6A3 DYNC1H1 MCM3AP CHRND LAMA2 PIEZO2 LYRM7 MGME1 ANTXR2 NALCN GBA ERLIN1 RBCK1 SCN8A FZD4 CHKB ATP6AP2 TOR1AIP1 VCP FRG1 TIA1 MARS1 KCNC1 TRAPPC6B OPA1 MYMK TFAM MFSD2A KCTD17 ANO5 WDR45B NDUFAF2 PCLO POLR3A MAG HSPB3 TARDBP POGLUT1 AGTPBP1 TYMP KBTBD13 SPRY2 MTMR14 AAAS VMA21 MOCS1 MTRFR TNFRSF11B CLN8 MRPS2 MFSD8 PDE8B UBQLN2 NEFL FIG4 AARS2 NUP160 PDGFB STUB1 FA2H ABCD1 MORC2 ARHGDIA MYO1E MED17 RYR1 PRUNE1 DRD3 EEF2 SLC34A2 SNCAIP MRPS34 POMGNT1 ALG2 PDE10A RETREG1 ATG5 ELP1 PMPCB CAD ORAI1 PCNA WT1 KCNQ4 MARCHF6 VARS1 DDHD2 MAPKBP1 RRM2B ALG14 DMXL2 ATP2B3 PLP1 KY KCTD7 MOCS2 MTPAP DEGS1 COQ2 TRIM32 WNK1 PRKRA PSEN1 PLD3 IGHMBP2 NUP85 SLC44A4 DAB1 NEFH PNPLA2 NIPA1 UBA5 COQ6 TMEM43 ABHD12 AP4B1 SURF1 SBF1 VWA3B COA7 POLR3B B4GALNT1 ATP13A2 SLC9A1 NR4A2 SLC52A3 TGM6 KLC2 GJB1 COASY PMP22 DGKE KCNT1 VPS13C ATXN2 COL4A5 HSPB1 PARK7 CYP7B1 MFF MYH14 CACNA1G DNA2 VPS53 DZIP1L PMP2 SOST TRAK1 NOL3 TEAD1 PYCR2 ATP7A ACTN4 GDAP2 DDHD1 PTRH2 SGCA FBXO7 SAMD12 GEMIN5 DNAJB11 HSPD1 FKTN PNKP NDUFB9 LRP12 MFN2 GPT2 SPG21 HP_NONPROGRESSIVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NONPROGRESSIVE STARD7 SAMD12 SCN8A COL4A4 HOXB1 COL4A3 PMPCA CLDN14 ATG5 ATP2B3 SELENON MRPS2 TUBB6 GFPT1 CHRNE ILDR1 CWF19L1 MARCHF6 YEATS2 ATN1 KRT12 VLDLR TRPV4 PDE10A HP_LARGE_BEAKED_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_BEAKED_NOSE ASPH CENPT ERCC2 RNASEH2C RNASEH2B RNASEH2A XRCC4 POLR3A ADAR TREX1 LIG4 IFIH1 CEP152 SAMHD1 HP_CENTRALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS SPEG FXR1 MICU1 TPM3 TTN MTMR14 CCDC78 DNM2 RYR1 ORAI1 MYH7 ACTA1 PYROXD1 TRIM32 BIN1 TRIP4 SIL1 SYNE1 UNC45B BVES TPM2 STIM1 CASQ1 MYF6 DPM3 POMT1 SELENON TNPO3 HNRNPA2B1 HP_CYTOCHROME_C_OXIDASE_NEGATIVE_MUSCLE_FIBERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYTOCHROME_C_OXIDASE_NEGATIVE_MUSCLE_FIBERS POLG2 MT-TN TYMP ETHE1 COA3 MT-TS1 TWNK TK2 TRMU PUS1 POLG LRPPRC COX6A2 TACO1 RRM2B COX6B1 COX10 SLC25A4 MT-TE NDUFA4 MIEF2 COA8 SURF1 HP_MULTIPLE_MITOCHONDRIAL_DNA_DELETIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_MITOCHONDRIAL_DNA_DELETIONS POLG2 POLG TWNK TYMP RRM2B SLC25A4 HP_LIMB_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_MUSCLE_WEAKNESS POLG2 SARDH DMXL2 MPV17 CCNF WASHC5 CFL2 PRNP FLI1 PNKP GNE TRPV4 SLC18A3 L1CAM TPM3 RTN2 PLP1 KIF5A CHCHD10 PDK3 ADAR EGR2 NEFL PNPLA6 GALC KCNJ18 MFN2 LDB3 DYM HARS1 MME SPG11 ATP1A1 TK2 MTHFR SH3TC2 TTN LIPE MPZ COL13A1 AP5Z1 HMBS GAN MYL2 AKT1 TBCE VCP FBXO38 COX6A1 ERLIN2 CHRNB1 BAP1 HINT1 POPDC3 ZFYVE26 SCN4A ACTA1 YARS1 DES UBAP1 LMNA ZFYVE27 SPTLC2 PIK3CA TMEM43 MYO9A KCNJ10 SPART HADHB TRIP4 INF2 GMPPB RASA1 LBR GIPC1 DYNC1H1 MCM3AP MYF6 NDRG1 LAMA2 CPT1C PIEZO2 VHL DOK7 ATL1 TDP1 LMOD3 PRX DYSF REEP1 GABRA3 PDGFB HACD1 MAPT MORC2 KIF1B SLC25A21 CRYAB CHRNE PYROXD1 MYPN SCYL1 MTRFR IGHMBP2 ERGIC1 KBTBD13 GARS1 CYP7B1 POLG TPM2 PLOD1 CPOX SBF2 NF1 PIGN KARS1 MTAP ALAD MYH7 ATL3 POMT1 HSPD1 AFG3L2 PLEC ANO5 HSPB3 MUSK POGLUT1 TRAF7 AMPD3 ATP7B CACNA1S PABPN1 SYNE2 SQSTM1 LRP4 HSPB1 NEB SMN1 COL12A1 SYNE1 VMA21 PPOX PMP22 MT-ATP6 SYT2 CHRNA1 SUFU RRM2B CAPN1 TYMP BVES SORD DSTYK VPS13A SLC25A4 SLC25A1 FHL1 KLHL41 MTMR14 SIGMAR1 FAM126A ITGA7 LRSAM1 MARS1 ABCD1 DDHD1 RAI1 AK9 CAPN3 PNPLA2 MYH14 GBA2 TFG HADHA SPAST DGUOK BIN1 FUZ COX20 DMPK NF2 MYOT FGD4 SMARCB1 ASAH1 SNAP25 AARS1 CHAT CHRND TIA1 ORAI1 CD59 DDHD2 PHYH SACS RAB7A IBA57 KIF1A KY AGRN NUP62 TRIM32 PEX7 LYST NOTCH2NLC SMARCE1 ADSS1 RAPSN CRPPA SDHA SGCG GDAP1 BSCL2 SMCHD1 TWNK NEFH SPG7 NIPA1 SMO TCAP FLNC ALDH18A1 GJB1 SLC12A6 DNAJB2 SBF1 AMPD1 TERT COA7 SCO2 RYR1 DNM2 FA2H VAMP1 COLQ VWA1 SLC33A1 SELENON RNASEH1 COL6A3 EXTL3 HK1 ACOX1 SLC52A2 POU3F4 GYG1 MTTP HSPB8 AR ACTN2 DCTN1 MAP3K20 SPG21 SPTLC1 COL6A2 SLC5A7 CAV1 EMD BTD COL6A1 LRP12 HP_SCAPULAR_WINGING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCAPULAR_WINGING TPM2 SPEG TRPS1 NEB COLQ SGCD ALG14 SGCB COL12A1 EYA1 TK2 CAPN3 PAX1 ATP6V0A2 GNE FLNA ALG2 MYBPC1 POLG GDF11 RAF1 SYNE1 OBSL1 LMNA ANO5 CUL7 SEPTIN9 MYH7 VCP NEFL CCDC8 ACTA1 BICD2 MYPN DNM1L TMEM43 TTN RYR1 CRPPA PAX3 SGCG CSGALNACT1 SMCHD1 OPA1 FHL1 TPM3 PTPN11 TNPO3 DYSF SH3TC2 LGI4 DPAGT1 MYH2 FRG1 PYROXD1 C19orf12 BRAF GMPPB KBTBD13 BIN1 VWA1 COL6A3 POGLUT1 SGCA GFPT1 SYNE2 POMT2 FBN1 SQSTM1 FLNB LAMB2 KCNJ2 COL6A2 KLHL41 TRPV4 EMD TGFB3 COL6A1 HP_DISTAL_AMYOTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_AMYOTROPHY KLC2 MME MPV17 NDUFA9 PNKP GNE TRPV4 SLC18A3 MED25 LITAF KIF5A PDK3 MTMR2 DOK7 EGR2 ASAH1 ATXN3 NEFL PNPLA6 MFN2 MT-TE LDB3 CCT5 SIGMAR1 HARS1 SPG11 SH3TC2 MPZ TBCE VCP PRPS1 RYR1 GDAP1 KANSL1 ZFYVE26 AGL MYOT ACTA1 YARS1 CEP126 LMNA SPTLC2 MYO9A ATAD3A VPS13A MRE11 SPART INF2 MAG GIPC1 CPT1C ALS2 ATL1 ZC4H2 TDP1 PRX TPM3 SLC25A46 ABCA1 GAN MORC2 KIF1B SLC25A21 DYSF TIA1 ZBTB20 C19orf12 DCAF8 KLHL9 IGHMBP2 GARS1 SOX10 SBF2 HSPB8 SLC5A7 COL13A1 ATL3 AFG3L2 ANO5 SETX TYMP YY1 FXN APTX HSPB1 REEP1 ATXN2 SVBP KIF1A PMP22 SYT2 HINT1 PEX10 SLC25A1 FBLN5 GJB1 CYP27A1 NEMF COMP LRSAM1 ATXN1 RAI1 VPS13D NDRG1 NGLY1 SPAST GBA2 FUZ DNM2 DMPK FGD4 SDHAF1 SNAP25 CHAT SACS CHP1 KDM5C POLG KIF1C KRT5 CAV3 RAB7A IBA57 AGRN FLRT1 MSTO1 NOTCH2NLC ADSS1 MTRFR BSCL2 NEB SLC39A13 CPLANE1 TFG TCAP JPH1 FLNC ABHD12 SPTBN4 KRT14 COA7 B4GALNT1 MATR3 SLC52A3 PLEKHG5 COASY VAMP1 PTRH2 MYH14 SDHB CHCHD10 STUB1 HK1 ANG ATP7A SDHA ACTN2 DCTN1 BICD2 PLOD3 SPTLC1 FUS CUL4B LRP12 SDHD SQSTM1 HP_LATE_ONSET_PROXIMAL_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LATE_ONSET_PROXIMAL_MUSCLE_WEAKNESS CRYAB GABRA3 KCNE3 SCN4A CACNA1S DES KCNJ18 HP_DIFFICULTY_STANDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFICULTY_STANDING CYP2R1 DYM MYOT FAR1 WARS2 ABCC8 CLN8 KY VDR ATP2B3 GPAA1 TK2 GRIN2A GRM1 TFG SLC34A3 TBCE DYSF SMS CYP27B1 SH3TC2 HP_GENERALIZED_AMYOTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_AMYOTROPHY TPM2 SPEG HNRNPA1 SPTBN4 MUSK FUS NEB MYH7 LEMD3 SGCD SELENON TCF4 CARS1 SCO2 C2orf69 SLC18A3 POLR3A PNPLA2 ALDH18A1 PYROXD1 MYPN NAGA SCYL1 CHCHD10 PGAP1 RYR1 KBTBD13 UNC45B BIN1 MST1 C9orf72 NUP88 LMNB2 DOK7 TBK1 SPG11 DARS2 LMNA DNA2 TK2 POMT1 COL6A2 YARS2 COL6A3 POLG SQSTM1 RAPSN SLC52A2 VAMP1 VCP GMPPB BAG3 TTN COL12A1 SEMA4D ACTA1 MYOD1 GPR35 DNAJC19 PUS1 TARDBP NOTCH2NLC DALRD3 SLC16A2 RBM28 ACADSB WARS2 PNPLA6 LAMP2 TPM3 KLHL41 TRIP4 HNRNPA2B1 MGME1 COL6A1 HP_PROXIMAL_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_MUSCLE_WEAKNESS DMXL2 TRAPPC11 FUS MT-TN COL12A1 SLC18A3 GAA CHCHD10 MTMR2 DOK7 ASAH1 MT-ATP6 POMGNT2 NEFL MYBPC1 KCNJ18 MFN2 MT-TE LDB3 MUSK ABHD5 SIGMAR1 CAPN3 DNAJB6 OPA1 TK2 TTN LIPE NUTM2B-AS1 COL13A1 TNXB HMBS GAN VCP FXR1 FBXO38 TPM3 CHRNB1 MSTO1 DMD FKRP POPDC3 SGCG SCN4A MYOT BICD2 CHRNE TMEM43 TARDBP MYO9A POLG2 RAPSN POMT2 GMPPB MYH7 CPT1C DAG1 GIPC1 CHRNA1 MYF6 POLG DYSF NDRG1 SPG11 LAMA2 FHL1 DPAGT1 RBCK1 TWNK SH3TC2 GABRA3 CHKB ACBD5 MORC2 SLC25A21 RYR1 MAP3K20 SGCD CRYAB PYROXD1 MYPN FLAD1 SGCB TOP3A PNPLA8 ANO5 TPM2 SYNE1 CPOX VAPB PIGN TBK1 MTAP POMT1 BIN1 PLEC COL6A3 HLA-DRB1 POGLUT1 ATP7B CACNA1S PABPN1 TFG SYNE2 MTMR14 LRP4 ACADM NEB SMN1 VMA21 PPOX COL9A3 SYT2 RRM2B COQ8A GDAP1 BVES SORD NARS2 LAMP2 SLC25A4 SLC25A1 ACTA1 ALG2 FKTN MT-TL2 SELENON ATXN1 SPEG COLQ AK9 ORAI1 ALG14 PNPLA2 MYH14 DNA2 CNBP POMGNT1 DMPK DNM2 SDHAF1 SNAP25 CHAT CHRND AGRN LMNA OAT ACTN2 SQSTM1 SLC5A7 MICU1 COL6A2 INPP5K BTNL2 TRIM32 LTBP4 ADSS1 PRKACA CAVIN1 PYGM CRPPA IGHMBP2 MT-TL1 HNRNPA2B1 NEFH REEP1 TCAP COL6A1 UBA1 JPH1 FLNC HNRNPA1 MYH2 SLC52A3 DPM3 PLEKHG5 CASQ1 POLR3GL POMK VAMP1 TRDN UNC45B C9orf72 GFPT1 ALS2 SDHB MT-TS1 VWA1 LARGE1 CFL2 DYNC1H1 HK1 SGCA DES KY SDHA KCNE3 SMN2 DGUOK GATM LAMB2 STIM1 TRPV4 EMD LRP12 SDHD HP_CALF_MUSCLE_PSEUDOHYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALF_MUSCLE_PSEUDOHYPERTROPHY PPARG SGCA POMK POMGNT1 POMT2 CRPPA POMT1 SGCB GMPPB SGCG DAG1 NEB MYH7 DMD TRIM32 ANO5 FKRP CAV3 HP_EXERCISE_INDUCED_MUSCLE_CRAMPS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXERCISE_INDUCED_MUSCLE_CRAMPS PGK1 HINT1 PYGM CAV3 RYR1 PYGL PFKM LAMP2 SLC16A1 CPT2 LAMA2 CHCHD10 PGAM2 HP_SKELETAL_MUSCLE_HYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKELETAL_MUSCLE_HYPERTROPHY SHOX FIBP PPARG FOXE1 ERLIN2 GPC4 RTL1 GTF2I CCDC47 CIZ1 GTF2IRD1 GAA PTEN LMNA PEX1 DNMT3B POMGNT2 ABCC9 NKX2-5 ROR2 HELLS FOS GPR101 PAX8 SMAD4 TTN LIPE KCNQ1OT1 HEXB GLB1 IDS CAVIN1 AGPAT2 MAN2B1 LHX4 DMD ANO5 FKRP TBCK POPDC3 CHCHD10 AGA CLCN1 SNX14 SCN4A PMP22 TSHB AIP CAV3 POU1F1 ABCC8 POMT2 RASA1 PLAGL1 FTO DAG1 MT-TE CRPPA METTL27 MYF6 TBL2 ATP6V1B2 LAMA2 PLIN1 PRKAG2 PQBP1 KLLN DYSF PIK3CA SNRPN SDHC INPP5E PROP1 CDCA7 MAP3K20 FRG1 SGCD KCNMA1 HSPG2 SGCB DPM3 SLC26A4 DVL1 LHX3 DUOX2 MPZ PIGS HESX1 MSTN MEG3 GPC3 ARSB POMT1 PLEC MED13L NCF1 MTMR14 POP1 RFC2 HYMAI WNT5A INSR ATRX DNAJC30 IGF2 HNRNPK PIK3C2A SETBP1 ALG3 USF3 BCL7B ZFP57 ZEB2 ARID1A AMPD2 IYD CAPN3 SLC5A5 PRPS1 CLIP2 SNIP1 BIN1 POMGNT1 ABHD11 TSHR ACTB DNM2 FUCA1 ALG8 EHMT1 ZBTB24 ELN FDX2 THRA EIF4H LAT2 HRAS STX1A PIGW CDKN1C TG AFF4 FHL1 LTBP4 GMPPB IDUA IFT140 BUD23 SGCG SDHD IL6ST DHX16 DLK1 PSMB8 LIMK1 CLDN3 BSCL2 ALG6 TCAP BAZ1B TRAF3IP2 SDHB POLR3A GNPTAB RYR1 SLC25A1 KCNQ1 GATA1 LARGE1 VPS33A UBE3A SEC23B POMK SMARCA4 UNC45B DUOXA2 NKX2-1 GTF2IRD2 KCNN3 CAV1 KCNJ11 RNF125 FKBP6 CLDN4 TRMU KCNH1 VPS37D AR SRY MLXIPL TPO SGCA LIMS2 FKTN CIDEC TMEM270 AKT1 FOXG1 SMARCB1 KCNA1 HS2ST1 CUL4B HP_MUSCLE_FIBER_NECROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_FIBER_NECROSIS POLG TWNK DHX16 COL6A2 ACTA1 COL6A3 COL6A1 POPDC3 SGCG HP_MYOFIBRILLAR_MYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOFIBRILLAR_MYOPATHY PTEN MYOT AKT1 KLHL40 ACTA1 FLNC DNAJB6 LDB3 CFL2 BAG3 FHL1 TTN HP_NECK_FLEXOR_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NECK_FLEXOR_WEAKNESS KBTBD13 RRM2B CHRNB1 AK9 LRP4 NEB CFL2 GYG1 ACTA1 CHRNE SCN4A CHCHD10 DES TRIM32 CHRNA1 CNBP TPM2 TTN RAPSN DMPK SIGMAR1 ALS2 SGCG CHRND AGRN SPG11 LAMA2 COL13A1 MYOT DOK7 RNASEH1 FUS KLHL41 LMOD3 DYSF MUSK HP_SHOULDER_GIRDLE_MUSCLE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHOULDER_GIRDLE_MUSCLE_ATROPHY VCP TRPV4 ACTB GNE UNC45B TRIM32 FKRP SGCB DES MYH7 TPM3 FRG1 HP_QUADRICEPS_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_QUADRICEPS_MUSCLE_WEAKNESS ADSS1 POLG2 RRM2B VCP TTN TWNK SLC25A4 COL12A1 COL6A2 TRIM32 DYSF POLG COL6A3 COL6A1 MFN2 HP_AUTOPHAGIC_VACUOLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTOPHAGIC_VACUOLES CRYAB MYOT ACTA1 ACTN2 LDB3 TNPO3 LRP12 HP_MITOCHONDRIAL_MYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MITOCHONDRIAL_MYOPATHY OPA1 MT-ND1 MT-ND2 NDUFS2 NDUFAF8 MT-TL1 TK2 MT-ND5 MT-ND3 MT-ND6 AGK DNA2 NDUFAF3 NDUFAF4 POLG NDUFS6 MT-CO2 PNPLA8 MT-TV NDUFS7 CAV3 MT-ATP6 MT-TF NDUFA1 NDUFS4 NDUFAF2 MT-TW NDUFV2 TIMMDC1 YARS2 FDX2 MT-CYB FOXRED1 MT-TQ NUBPL NDUFS3 TYMP NDUFS1 MT-TT NDUFB11 TWNK MSTO1 NDUFA6 NDUFA11 NDUFB10 MT-TK NDUFV1 POLG2 RRM2B NDUFB9 NDUFAF5 DGUOK MT-ND4 MT-TC SLC25A4 NDUFS8 MT-TS2 ISCU NDUFAF1 NDUFB3 TMEM126B MT-TS1 MT-CO3 MT-CO1 PUS1 HP_EXERCISE_INDUCED_MYALGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXERCISE_INDUCED_MYALGIA FLNC AMPD3 DYSF RRM2B AMPD1 ACADM MATR3 RYR1 LMNA PHKA1 TRIM32 CAV3 DNM2 BIN1 PYGM PGK1 ACADVL CPT2 MYF6 STIM1 MTMR14 ANO5 RNASEH1 PGAM2 LDHA HP_MYOCLONIC_SPASMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOCLONIC_SPASMS TRAF7 TXN2 PDGFB GNAS SMARCB1 BAP1 INPP5E BRAT1 TERT STX16 MOCS2 MOCS1 MT-ATP6 PIK3CA SLC1A4 NF2 SMO SMARCE1 SUFU AKT1 HP_CONGENITAL_MUSCULAR_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_MUSCULAR_DYSTROPHY FKTN POMT1 CHKB COL6A2 MYH7 LAMA2 GMPPB FKRP COL12A1 POMK TTN POMGNT1 POMT2 LMNA LARGE1 CRPPA SELENON ITGA7 COL6A3 COL6A1 HP_GENETIC_ANTICIPATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENETIC_ANTICIPATION ATXN1 ATXN2 TERT ALDH18A1 CACNA1A SPAST ATXN3 ATN1 ATXN7 ATXN10 HP_SPORADIC http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPORADIC RB1 MAPT ACAT2 CTBP1 NRAS PIK3CA DRD5 HERC2 PAFAH1B1 ALX3 GNAQ SDHC SEMA3E KCNJ18 SNCAIP STX16 MEF2C STK11 ATXN8OS EHMT1 NSD1 PBRM1 LETM1 GNAS ADH1C NSD2 NIPBL RPS6KA3 VHL LMNB2 HRAS IRF6 GJA8 SDHB SPECC1L SIN3A COQ2 SIX3 NLGN4X AKT1 CACNA1S JAK2 RAI1 PDGFRA SNORD116-1 EP300 ALDH18A1 RNF139 GBA KIT KRAS BCL10 CHD7 KIF1B SNRPN NLGN3 FOXG1 NR4A2 CDON TUBB4A TINF2 FLCN ZBTB20 GATA1 UBE3A SHANK3 RPS14 CREBBP FGFR3 NDN ATXN2 ADA2 NFIX PSEN1 PWRN1 MTOR FGFRL1 MKRN3 TSC2 PWAR1 GJA5 SKI CPLX1 GLUD2 HNF1B TBP GNAS-AS1 TSHR PTDSS1 TOE1 NPAP1 HNF1A GLI2 IGF2 FLNB PCSK1 OGG1 SUMO1 TSC1 HLA-DRB1 FGFR1 MYC NFIA MAP2K1 MAGEL2 SNORD115-1 HP_PELVIC_GIRDLE_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PELVIC_GIRDLE_MUSCLE_WEAKNESS FLNC TPM2 HACD1 CHRNB1 AK9 LRP4 ACTA1 FKRP VCP CHRNE SCN4A TPM3 PNPLA2 HNRNPDL GNE TRIM32 CHRNA1 DGUOK SGCB TTN MT-TE RAPSN MAP3K20 DPM3 DMPK ANO5 MYOT CHRND SMCHD1 DNAJB6 RYR1 AGRN SELENON COL13A1 DOK7 PLEC DYSF TNPO3 MUSK MYL2 ITGA7 HP_INCREASED_MUSCLE_FATIGUABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_MUSCLE_FATIGUABILITY CRELD1 NR2F2 AMPD3 GABRA3 DBH GATA6 SCN4A CACNA1S PGK1 CAV3 DMGDH AMPD1 SLC16A1 GATA4 KCNE3 SERPINA6 TRAPPC11 RRM2B STIM1 KCNJ18 HP_EPISODIC_FLACCID_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISODIC_FLACCID_WEAKNESS GABRA3 SCN4A CACNA1S KCNJ2 KCNJ5 KCNE3 KCNJ18 HP_TYPE_1_FIBERS_RELATIVELY_SMALLER_THAN_TYPE_2_FIBERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_1_FIBERS_RELATIVELY_SMALLER_THAN_TYPE_2_FIBERS RYR1 TPM3 MYH7 ACTA1 TPM2 SELENON HP_SKELETAL_MYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKELETAL_MYOPATHY SDHA SDHB MT-TE TAFAZZIN HADHB SDHAF1 COMP HADHA ALDOA PNPLA2 SDHD HP_REDUCED_SUBCUTANEOUS_ADIPOSE_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_SUBCUTANEOUS_ADIPOSE_TISSUE PLIN1 ZMPSTE24 SKI CAV1 NAA10 TOP3A ATP6V1E1 FBN1 IGF1R INSR POLR3A AGPAT2 LMNA KCNK9 TGFB1 PPARG SLC25A24 SLC2A2 RBM28 FH BSCL2 SOX18 PTF1A ERCC6 ERCC8 TGFB3 LEMD2 HP_CALCINOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALCINOSIS SAMD9 LBR GEMIN4 RECQL4 GNAS GALNT3 ANAPC1 LMNA CASR ZMPSTE24 AGXT HP_UTERUS_DIDELPHYS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UTERUS_DIDELPHYS DYNC2I1 GATA3 DYNC2I2 AXIN1 WDR35 HOXA13 DYNC2H1 PPP1R12A INTU IFT80 HP_BRUXISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRUXISM DHX30 AFF3 NTNG2 CERT1 FOXG1 ANK3 KIF15 ZEB2 NEXMIF HNRNPK SHANK3 SHROOM4 PDE2A GABBR2 CDKL5 MECP2 VPS13A HTT PGAP3 ATG7 SPTBN1 HP_NEVUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEVUS A2ML1 NRAS GTF2I LEMD3 DIS3L2 RIT1 ERF CHRNA7 HRAS GTF2IRD1 PTEN KRAS RBM28 RAF1 PIK3CA ROR2 CHRNG MED25 KCNQ1OT1 CDH3 SPTBN1 HPS1 BRAF SMC3 CBL CYP26C1 TNFRSF11B PUS3 KANSL1 PRKAR1A TP63 CYP1B1 RBM8A FGFR2 WNT5A TSC2 SOS2 CDK4 AKT1 ASXL2 EED NXN MC1R METTL27 TBL2 SOS1 KLLN SDHC TSC1 CDC42 BAP1 POT1 SLC45A2 DVL1 TERF2IP MITF XPA SUZ12 IFNG GNAQ HDAC8 PTCH1 NCF1 THPO RFC2 ERCC4 TRIM37 ERCC2 ASXL1 TERT SUFU XPC PUF60 CDKN2A COL3A1 MSL3 DNAJC30 IGF2 OCA2 DDB2 RRAS2 NEK9 ACD USF3 TNFRSF11A BCL7B TASP1 MPL TGFB3 FGFR1 PTPN11 TEK CLIP2 ERCC5 ABHD11 PTCH2 PCGF2 CDK10 ELN CDKN2B EIF4H STK11 LAT2 STX1A CDKN1C RRAS MGMT TYR MYH3 BUD23 SDHD LIMK1 CLDN3 BAZ1B ARL6IP6 SDHB H19 KCNQ1 DVL3 SEC23B MRAS FGFR3 TYRP1 PDE4D H1-4 MYOC ERCC3 LZTR1 SLC25A24 GTF2IRD2 FKBP10 LTBP2 FBN1 FKBP6 CLDN4 KRT14 RASA2 COL7A1 VPS37D MLXIPL FZD2 BLOC1S5 EDEM3 TMEM270 PLP1 HP_PSORIASIFORM_DERMATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSORIASIFORM_DERMATITIS ADAM17 HLA-DRB1 GATA3 CARD14 CACNA1G TP63 HLA-C HLA-DQB1 FLI1 KNSTRN NFKB2 IRF2BP2 EGFR CTLA4 MSMO1 DSG1 TTC7A AP1S3 LIG4 SLC29A3 FOXP3 HLA-B PIK3CD IL36RN IL2RA HP_PERIODIC_PARALYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIODIC_PARALYSIS FAH GABRA3 SCN4A CACNA1S CDH23 SLC4A1 KCNJ2 KCNJ5 KCNE3 KCNJ18 ABCB6 CA2 HP_PULP_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULP_CALCIFICATION FAM20A COL1A1 GALNT3 FGF3 COL5A2 DSPP COL5A1 HP_STAGE_5_CHRONIC_KIDNEY_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STAGE_5_CHRONIC_KIDNEY_DISEASE WT1 PLCE1 NUP133 AVIL CEP290 CFHR2 CC2D2A NPHP1 CFHR3 NOS1AP MYO1E NUP107 NUP37 DSTYK NDUFAF6 MUC1 ACTN4 NPHS1 PKD1 NUP93 SDCCAG8 NPHP3 IQCB1 CD151 DCDC2 COL4A3 HNF1B WDR19 PKHD1 APOL1 MEFV GLIS2 TMEM231 NPHP4 TRAF3IP1 NUP160 LAMB2 BSND LMX1B PAX2 MAPKBP1 NPHS2 DAAM2 IFT43 CD2AP CRB2 CTNS SGPL1 ANLN NUP205 TPRKB JAG1 COQ8B NOD2 SMARCAL1 CFHR5 IFT140 INF2 NUP85 DNAJB11 TRPC6 CD81 TMEM67 COL4A4 FN1 GANAB BNC2 TTC21B SLC34A1 PTPRO CEP164 RPGRIP1L INVS PKD2 BICC1 TBC1D8B MAGI2 DGKE EHHADH DZIP1L TSC1 AHI1 TMEM126B GAPVD1 COL4A5 FAN1 TSC2 XPNPEP3 CLCNKB CEP83 ALMS1 SLC37A4 CPT2 COL4A6 ALG9 APRT NEK8 SLC7A7 SPRY2 OSGEP CLCN5 LZTFL1 AGXT GATM GSN TP53RK ARHGAP24 MYOCD RAD51C SRCAP ANKFY1 MMUT CLCNKA EMP2 PRKCD LAGE3 ARHGDIA HP_PILI_TORTI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PILI_TORTI ST14 NECTIN1 HRURF PEX6 DSG4 NECTIN4 BCS1L LMNA WRN HEPHL1 KRT85 CDH3 PEX1 HP_EXCESSIVE_SALIVATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXCESSIVE_SALIVATION GABRG2 MID2 MRE11 NTNG2 SATB1 SLC12A5 SCN2A UBE3A POU3F3 ATP6AP2 PDE10A ATP7B EIF2S3 ARHGEF6 ATRX HLA-B SLC9A6 SCN1B RTL1 AP4E1 SPEN PTS RAB39B PCGF2 SRPX2 GRIN2A GDI1 ZNF41 SCN1A RPS6KA3 AP4S1 ALG13 SLC9A7 ADGRG1 OCA2 SNRPN SPTBN1 ZNF81 MECP2 DLAT USP27X STXBP1 FRMPD4 NONO TANGO2 NEXMIF HERC1 AGTR2 PTCHD1 TSPOAP1 HPDL ARX QDPR DEAF1 SLC16A2 SPART FTSJ1 PAK3 ATP1A3 TSPAN7 SHMT2 TH ALS2 FOXP1 MED12 HNRNPH2 PLA2G6 SH3TC2 SETD5 IQSEC2 CLDN11 LMNB2 AP4B1 STEEP1 FOXG1 POLR3B SATB2 GPT2 ZC4H2 MED27 GABBR2 PRPS1 SYP IL1RAPL1 PI4KA DLG3 POLR3A UPF3B MEG3 GFM2 AP4M1 USP9X PCDH19 SMARCA2 EXTL3 CLCN4 CERT1 VAC14 GABRA1 KIF15 ZBTB11 FOXP2 IKZF1 GCH1 ATP10A SCN9A PMP22 FBLN1 NRXN1 HCFC1 STRADA VPS13A BCORL1 GNS TUBB2B DMD TASP1 ZEB2 DLK1 ACSL4 ZNF711 CNKSR2 HP_EUNUCHOID_HABITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EUNUCHOID_HABITUS GNRH1 FGFR1 KISS1 CHD7 FGF17 CYP19A1 GNRHR ANOS1 TAC3 TACR3 ESR2 HS6ST1 TUBB4A DUSP6 NSMF FGF8 PROKR2 PROK2 SPRY4 KISS1R WDR11 HP_DECREASED_CSF_HOMOVANILLIC_ACID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CSF_HOMOVANILLIC_ACID TH PNPO NGLY1 DDC TSPOAP1 GCH1 HP_MINICORE_MYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MINICORE_MYOPATHY FXR1 RYR1 MYH7 TRIP4 CFL2 SELENON HP_DEPOSITS_IMMUNOREACTIVE_TO_BETA_AMYLOID_PROTEIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEPOSITS_IMMUNOREACTIVE_TO_BETA_AMYLOID_PROTEIN GNE DYSF SORL1 ABCA7 PSEN1 TOMM40 APP TREM2 PSEN2 HP_SHORT_MIDDLE_PHALANX_OF_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_MIDDLE_PHALANX_OF_TOE HOXD13 TRPV4 FGFR1 FGFR3 FGFR2 HP_IRREGULAR_ILIAC_CREST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRREGULAR_ILIAC_CREST PAM16 DYM LMX1B GPX4 COL2A1 HP_LIMB_GIRDLE_MUSCLE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_GIRDLE_MUSCLE_ATROPHY FKTN TRAPPC11 SYNE2 POMT2 SGCB MORC2 FRG1 VCP CAPN3 TRPV4 DPM3 HNRNPDL GNE LMNA TRIM32 TMEM43 DGUOK SGCA UNC45B FKRP FHL1 DES DAG1 CRPPA SYNE1 ACTB ANO5 ACTA1 POMT1 EMD MYH7 TPM3 HNRNPA1 HP_NEMALINE_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEMALINE_BODIES TPM2 KBTBD13 NEB CFL2 NDUFB3 RYR1 KY ACTA1 PYROXD1 MYPN KLHL40 TPM3 LMOD3 NEFL MYO18B KLHL41 TNNT1 HP_MUSCLE_ABNORMALITY_RELATED_TO_MITOCHONDRIAL_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_ABNORMALITY_RELATED_TO_MITOCHONDRIAL_DYSFUNCTION POLG2 OPA1 MT-TN MT-TL1 TK2 MT-ND5 AGK DNA2 NDUFAF4 POLG MT-CO2 COX6A2 MT-TV NDUFS7 CAV3 MT-ATP6 MT-TF NDUFAF2 COX10 NDUFV2 FDX2 COA8 SLC25A4 SUCLG1 ETHE1 MT-ND3 NDUFS1 NDUFB11 MSTO1 NDUFA11 MT-TK MT-ND1 TACO1 MT-ND2 NDUFAF5 MT-ND4 MT-TE TWNK ISCU MT-TS1 PUS1 COA3 NDUFS2 NDUFAF8 MT-ND6 NDUFAF3 NDUFS6 LRPPRC PNPLA8 NDUFA1 NDUFS4 MT-TW NDUFA4 MIEF2 PNPT1 TIMMDC1 FARS2 YARS2 MT-CYB FOXRED1 MT-TQ SURF1 NUBPL NDUFS3 TYMP MT-TT NDUFA6 NDUFB10 SLC25A10 TRMU RRM2B NDUFV1 NDUFB9 DGUOK COX6B1 MT-TC NDUFS8 MT-TS2 NDUFAF1 NDUFB3 TMEM126B MT-CO3 MT-TL2 MT-CO1 HP_RIMMED_VACUOLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIMMED_VACUOLES HNRNPA1 TTN DNAJB6 MATR3 MAP3K20 TIA1 VCP GNE DPM3 PNPLA2 SIL1 GIPC1 FHL1 SYNE1 LMNA CHCHD10 COL6A3 SYNE2 SQSTM1 COL12A1 PABPN1 HNRNPDL ADSS1 ACTN2 TMEM43 NOTCH2NLC MYH7 NEB COL6A2 HNRNPA2B1 NEFH ACTA1 EMD TNPO3 TCAP COL6A1 LRP12 HP_NEONATAL_DEATH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_DEATH QRSL1 ETFDH GAD1 SUCLG1 FGFR3 LBR PIP5K1C GLUL LMOD1 GLI3 GLE1 FAM20C NDUFB10 NEB WT1 ATAD3A PKHD1 FLNB DSP SLC25A24 PET100 HSPG2 SDHD CEP55 MBTPS2 ETFA GBA SFTPB ETFB FOXF1 GATC NDUFB11 INTU ABCA3 HP_PHENOTYPIC_VARIABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHENOTYPIC_VARIABILITY SH3KBP1 POT1 FMR1 PIGA MECR SLC7A9 NUP107 CAV1 SUFU INAVA AGK SFXN4 EIF2S3 MT-CO2 METTL23 MT-TV EXOSC2 DNAJC21 FH VAMP1 GABRB2 LMNA OPA1 TK2 MPZ SPTAN1 GFI1B RHOBTB2 PRPS1 NAA10 TPM3 SCN1B MRPL44 CFD NLRP3 GYG1 SGPL1 DEPDC5 MTRFR GREB1L GDF6 CHRNE TUBG1 FGF12 STXBP1 TRPV4 EYA1 KCNMA1 MN1 CHRNA1 BCS1L FIG4 MEGF10 SGCE ATL1 GUCY1A1 SLC25A46 GATA1 FBXO11 SCN9A RTEL1 CLPX PRCC DARS2 NEFL PTPRO B2M PDHX GMPPB PROK2 MT-TW HARS1 MAPK8IP3 SCN2A MT-ATP6 GJA5 WNT10B SLC25A26 IFIH1 KIF14 DPM1 ELOVL4 GRIN2D TICAM1 PUM1 RARS2 PITX1 GCH1 GTPBP3 PMP22 SCNN1A BMPR2 PSAP PROKR2 RNASEH2B C19orf12 MSH6 MT-TC NPRL3 MPDZ NRIP1 PKD2 ALAS2 EGR2 KRT14 SLC12A5 PTCH1 COL6A3 SELENON RARS1 LRSAM1 NEUROD2 SLC3A1 CPOX GRIN2A CA5A SMARCE1 KCNK3 SMAD9 NUBPL STAT2 DZIP1 CACNB4 SAMD9L MT-TF FKRP AARS1 SCN4A RANBP2 COL4A2 PIGH VWF IARS1 SERAC1 SHH PEX2 SPR PAX2 NPHS2 MPC1 CTNNB1 FGF23 DDX41 JAG1 MT-TK MT-ND6 SIX3 ACTA1 MT-CYB LZTR1 CANT1 TAF13 STX1B DNM1L DAG1 ATXN10 TUBB6 MCM2 GNAS MT-TS1 CIC SLC2A1 COL6A1 PTCH2 SAMHD1 KRT86 SIX1 TLR3 UCHL1 TUBB4A EXOSC3 MYH7 PRDM8 CREBBP CYP2U1 PLAA SCN1A CACNA1A NF2 PPCS TMEM126A HAVCR2 GFPT1 F10 NR5A1 ERCC5 MET GATA5 GABRB3 ERCC1 GLE1 SLC52A2 TUBB3 CLTC ANXA11 FLCN GLI2 SPAST DLD CHRNA2 NDUFAF1 ATP6V1A CRELD1 TM4SF20 LAMA1 EP300 ATP1A2 ERBB3 TBK1 ZBTB18 POLG2 PRRT2 KIF11 DSTYK VEGFC PARN RBM12 CTLA4 GLI3 CD3E DLX5 KCNQ5 FARS2 RPS29 DCC CD3G HSD11B2 LRRK2 TENM4 HGSNAT CDH23 IBA57 ZIC3 FBXO38 MT-ND4L NLRP12 ANO5 TBCK CILK1 POMT1 BICD2 HNRNPDL KMT2B SMARCB1 PITX2 DHDDS PRKCG QDPR SNORD118 TNFRSF11A MRE11 PAX3 POMT2 GM2A AFG3L2 KRT5 F7 BRPF1 CIT MBTPS2 ANTXR2 PRX RBCK1 REEP1 DCX KLHL41 RAD51 KRIT1 VCP ROGDI RORB GABRG2 MARS1 MT-ND5 NDUFA1 DCHS1 WWOX TPM2 DPAGT1 POLG TOR1A COL4A1 MT-ND1 SETX MT-TQ HDAC8 BRCA2 PTEN TERT VMA21 TUBB2A EBP STAT1 GJB6 HCN1 COQ8A TNFRSF11B GANAB PEX10 THAP1 BCORL1 LRP5 EPHB4 GTPBP2 ADD3 MITF FAM126A MT-CO1 VPS13D DLST MT-TL1 CFAP53 ASAH1 PRPF31 PAFAH1B1 CSPP1 CHRNA7 SLX4 PROC KRT83 IKZF1 MRPS7 PFKM TTN AGRN ORAI1 PTCHD1 NDUFAF6 GRIN2B RELN SDHB CLCN2 PURA GUCY2D SLC5A7 MAPKBP1 MATR3 WDR26 COL6A2 GJA8 TMEM106B MFN2 KCNA1 GRIA4 NPRL2 DEGS1 MT-ND4 CACNA1S FGFR2 NEFH PNPLA2 TBC1D24 NIPA1 NDUFS8 SF3B4 KIF1B KRT81 MYH2 SURF1 EHHADH F2 CACNA2D2 CDON GJB1 ALX4 ATP1A3 GP6 FGFR1 MNX1 FOXE3 MT-CO3 SLC5A2 KIF1A DZIP1L PRPF8 GJC2 TRIT1 PDGFB ACTN4 ANO3 SGCA CHRNA4 TERC CFC1 RYR1 DHFR GRHPR TH TUBB2B MT-TS2 TWIST1 KLF13 MT-ND2 RMND1 FKTN STIM1 PIGN KIF5A TSEN15 SPG21 HP_DEATH_IN_CHILDHOOD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEATH_IN_CHILDHOOD GAD1 KARS1 NEB FCHO1 SCYL2 WT1 COX5A GNPTAB C2orf69 ABAT TIMMDC1 SMARCD2 SLC25A22 RNASEH2A RAB27A ACTL6B VPS33A PLCB3 PEX5 FADD NFIX HYOU1 SLC17A5 RINT1 ABCB11 MADD TNFRSF11A UBR1 TSEN54 ATP7A HEXB PQBP1 SUCLG1 TPP2 SNAP29 ERCC2 SEC31A OGDH MRM2 ERCC6 RARS2 STT3B FKRP PET100 LAT RNASEH2C TSFM ATG7 MRPL3 ATP5MK JPH2 HMGCL MTX2 HP_STILLBIRTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STILLBIRTH LBR MUSK CENPF COL11A1 PHGDH CALCRL WT1 POR TRIP11 PITX1 GDF5 FLNB RNU4ATAC ESCO2 SLC26A2 CEP55 ZMPSTE24 PTH1R GBA SLC35D1 LMNA OSTM1 FLNA NEK8 ALPL COL2A1 NSDHL HYLS1 HP_VARIABLE_EXPRESSIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VARIABLE_EXPRESSIVITY POLG2 SH3KBP1 KIF11 PIGA MECR SLC7A9 NUP107 SUFU EYA1 AGK SFXN4 EIF2S3 VEGFC PARN MT-CO2 GLI3 CD3E DLX5 METTL23 MT-TV EXOSC2 KCNQ5 FARS2 RPS29 VAMP1 CD3G GABRB2 LMNA TK2 HSD11B2 TENM4 MPZ SPTAN1 GFI1B HGSNAT RHOBTB2 IBA57 FBXO38 PRPS1 NAA10 TPM3 MRPL44 CFD NLRP3 GYG1 SGPL1 ANO5 FKRP TBCK MTRFR GDF6 ACTA1 POMT1 BICD2 CHRNE TUBG1 FGF12 SMARCB1 STXBP1 PITX2 DHDDS GLI2 QDPR TRPV4 SNORD118 TNFRSF11A MRE11 PAX3 POMT2 KCNMA1 GM2A AFG3L2 KRT5 CHRNA1 F7 BRPF1 CIT BCS1L MBTPS2 FIG4 MEGF10 ATL1 ANTXR2 PRX RBCK1 REEP1 GUCY1A1 SLC25A46 GATA1 FBXO11 KLHL41 SCN9A SHH VCP ROGDI CLPX MT-ND6 MARS1 DARS2 NEFL PTPRO MT-ND5 NDUFA1 B2M WWOX TPM2 PDHX GMPPB DPAGT1 MT-TW HARS1 POLG COL4A1 MAPK8IP3 SCN2A COL6A3 SETX MT-TQ HDAC8 SLC25A26 IFIH1 KIF14 DPM1 RARS2 TUBB2A GCH1 EBP GTPBP3 PMP22 SCNN1A GJB6 PSAP RNASEH2B C19orf12 COQ8A TNFRSF11B GANAB PEX10 MT-TC BCORL1 MPDZ NRIP1 ALAS2 EGR2 KRT14 GTPBP2 PTCH1 ADD3 MITF FAM126A SELENON RARS1 MT-CO1 NEUROD2 SLC3A1 VPS13D MT-TL1 CFAP53 ASAH1 CA5A PAFAH1B1 CSPP1 NUBPL STAT2 SLX4 PROC KRT83 SAMD9L MRPS7 MT-TF PFKM AARS1 AGRN ORAI1 PIGH PTCHD1 NDUFAF6 GRIN2B IARS1 SERAC1 CLCN2 PEX2 SPR PAX2 PURA VWF SLC5A7 MAPKBP1 NPHS2 MPC1 MATR3 WDR26 COL6A2 TMEM106B MFN2 KCNA1 MT-TK GRIA4 DEGS1 SIX3 LZTR1 CANT1 TAF13 STX1B DNM1L DAG1 TUBB6 MCM2 FGFR2 RTEL1 GNAS NEFH PNPLA2 MT-TS1 EPHB4 TBC1D24 NIPA1 CIC NDUFS8 SLC2A1 COL6A1 PTCH2 SF3B4 SAMHD1 KRT81 MYH2 KRT86 MT-ND1 SIX1 SURF1 EHHADH F2 CACNA2D2 CDON TUBB4A EXOSC3 MYH7 PRDM8 CREBBP CYP2U1 ALX4 PLAA SCN1A NF2 PPCS TMEM126A GP6 HAVCR2 GFPT1 SLC5A2 F10 SCN4A ERCC5 KIF1A DZIP1L MT-CYB ERCC1 GLE1 SLC52A2 TUBB3 TRIT1 CLTC ACTN4 SPAST DLD SGCA NDUFAF1 TTN ATP6V1A RYR1 DHFR LAMA1 GRHPR TH EP300 TUBB2B MT-TS2 TWIST1 RMND1 CAV1 FKTN MT-CO3 STIM1 PIGN TSEN15 ZBTB18 SPG21 HP_INCOMPLETE_PENETRANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCOMPLETE_PENETRANCE CPOX POT1 PRRT2 FMR1 KIF11 GRIN2A DLST CAV1 INAVA SMARCE1 PRPF31 EYA1 TRPV4 KCNK3 DSTYK RBM12 SMAD9 CTLA4 DLX5 CHRNA7 DZIP1 IKZF1 CACNB4 MT-ND5 RPS29 FH DCC TTN SCN4A RANBP2 SUFU OPA1 LRRK2 COL4A2 NF2 TENM4 VWF CDH23 RELN SDHB CLCN2 PAX2 GUCY2D MT-ND4L GJA8 SCN1B NLRP12 CTNNB1 FGF23 DDX41 DEPDC5 JAG1 GREB1L CILK1 MT-ND6 HNRNPDL NPRL2 KMT2B SMARCB1 SIX3 GLI2 PRKCG MT-CYB LZTR1 PTCH1 MN1 SLC2A1 MT-ND4 CACNA1S ATXN10 SGCE PARN ATL1 DCX KIF1B SIX1 RAD51 RTEL1 TLR3 KRIT1 SHH RORB UCHL1 GABRG2 GJB1 PRCC ATP1A3 CACNA1A DCHS1 FGFR1 MNX1 FOXE3 PROK2 MT-CO3 TOR1A COL4A1 NR5A1 MT-ATP6 MET MT-ND1 GJA5 GATA5 PRPF8 WNT10B GABRB3 BRCA2 IFIH1 GJC2 PTEN ELOVL4 PDGFB ANXA11 TERT TICAM1 PUM1 FLCN VMA21 PITX1 ACTN4 STAT1 ANO3 BMPR2 CHRNA2 PROKR2 CHRNA4 TERC HCN1 MSH6 CFC1 CRELD1 THAP1 TM4SF20 NPRL3 ATP1A2 NRIP1 PTCH2 PKD2 KLF13 MT-ND2 LRP5 EPHB4 SLC12A5 ERBB3 TBK1 KIF5A MFN2 LRSAM1 HP_SHOULDER_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHOULDER_DISLOCATION COL1A2 AEBP1 NGLY1 COL1A1 ARF1 ERMARD COL5A2 B3GAT3 ARFGEF2 FLNA CHST3 TMTC3 MAP1B NEDD4L COL5A1 HP_ABNORMALITY_OF_UPPER_LIMB_EPIPHYSIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_UPPER_LIMB_EPIPHYSIS_MORPHOLOGY ATR TRPS1 MATN3 NPR2 GPX4 CTBP1 TRPV4 COL9A3 IHH MIA3 FLNA KCNH1 SALL1 TRAPPC2 SLC26A2 COG4 TRIP11 DYM RAB23 COL9A1 PCNT SRCAP RMRP NEK1 LETM1 NSD2 MRPS28 BMPR1B EIF2AK3 IFIH1 ARSL FGFRL1 TONSL EXT1 CPLX1 COL9A2 NKX3-2 FLNB IFT172 POR KIF15 PRKAR1A GDF5 MGP COL2A1 ERCC6 GNPAT ERCC8 FGFR3 BGN RPS6KA3 RUNX2 EVC COMP EVC2 IFT52 IFT140 HP_ABSENT_FOREARM_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_FOREARM_BONE SF3B4 FANCC FGF10 FLNB MAFB LMBR1 TBX5 DONSON RBM8A SEMA3E GLI3 FANCD2 ZIC3 FANCB TRIO RIPK4 TBX3 SALL4 FANCE WNT7A RECQL4 FGFR3 FANCA FGFR2 CHN1 CHD7 HP_ABNORMALITY_OF_THE_RADIAL_HEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_RADIAL_HEAD SHOX ATR TENT5A RECQL4 LMX1B KDELR2 COL1A1 RNU4ATAC B3GAT3 SMAD6 TBX15 MAP3K7 B3GALT6 CREBBP FZD2 NOG GSC B4GALT7 EXOC6B IFITM5 BMP1 NIPBL COL27A1 DONSON FLNA SKI ESCO2 ERCC1 MBTPS2 AFF3 CD96 EXTL3 CHRNG CHST3 PRKAR1A ANAPC1 COL5A1 SRCAP COL5A2 GPC6 EP300 NOTCH2 ASXL1 KIF22 ARID1B SLC39A13 SCARF2 HP_ABNORMALITY_OF_RADIAL_EPIPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_RADIAL_EPIPHYSES COL9A1 SLC26A2 COL9A2 IFIH1 COL9A3 BGN HP_ABNORMALITY_OF_ULNAR_METAPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_ULNAR_METAPHYSIS MMP13 MMP9 SNRPN RECQL4 COL2A1 ANAPC1 COMP COL10A1 NDN MAGEL2 HP_ABSENT_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_HAND ARHGAP31 NOTCH1 IKBKG DLX6 TP63 PLXND1 REV3L BTRC RBPJ LMBR1 EOGT DOCK6 DLL4 EPS15L1 TBX3 SEM1 WNT10B DLX5 HP_SCLEROSIS_OF_HAND_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCLEROSIS_OF_HAND_BONE SLC34A2 GJA1 LMNA NGLY1 TRPS1 EIF2AK3 EBP ERCC6 ERCC8 TONSL HP_MITTEN_DEFORMITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MITTEN_DEFORMITY MMP1 LAMB3 ITGB4 COL7A1 COL17A1 LAMC2 DSP LAMA3 HP_MACRODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACRODACTYLY PIK3CA PTEN AKT1 GPR101 AIP HP_ABNORMAL_2ND_FINGER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_2ND_FINGER_MORPHOLOGY BHLHA9 RUNX2 HOXA13 GPC4 IRX5 GDF5 RPL10 KIF15 IHH KNSTRN INTU BMP2 MYCN CHSY1 CANT1 BMPR1B PTRH2 CSGALNACT1 HOXD13 GPC3 FLNA FGFR2 TWIST1 OPA3 PIK3CD MED25 MED12 COL2A1 TGDS MEIS2 HP_MIDLINE_DEFECT_OF_THE_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIDLINE_DEFECT_OF_THE_NOSE FRAS1 PTCH1 GRIP1 ALX3 ALX1 ZSWIM6 FREM1 NF1 TBX4 NUAK2 ALX4 FREM2 LONP1 EFNB1 HYLS1 HP_ABNORMAL_3RD_FINGER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_3RD_FINGER_MORPHOLOGY PKDCC CHSY1 GLI3 GNAS FGF10 SMC1A PTRH2 MEG3 GDF5 FGFR2 TWIST1 IHH KNSTRN PIK3CD SLC26A2 MED25 DLK1 FGFR3 COL2A1 EN1 RTL1 HP_ABNORMAL_4TH_FINGER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_4TH_FINGER_MORPHOLOGY FBXW11 ASXL3 IHH KNSTRN MECOM SNRPN PIK3CD GLI3 COL2A1 GDF5 ABCC8 KCNJ11 HP_ABNORMAL_5TH_FINGER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_5TH_FINGER_MORPHOLOGY ATR RNU4ATAC TCTN2 DYNC2LI1 A2ML1 HOXA13 HMGA2 MKKS GTF2I HDAC8 BUB1B GNB2 SH3PXD2B ALX3 TRPV4 KMT2D BBS1 ARL6 MYCN AMMECR1 DDX59 MAN1B1 RBBP8 EBP WDR19 RAB23 SPOP MBTPS2 MMP23B BPTF OBSL1 NUP37 SMOC1 BRAF GATA5 TCTN1 CBL SPEN RAB18 RPGRIP1L MAP1B RBM8A NEXMIF BMP2 CDKN1C ACVR1 SOS2 EFNB1 NIN CENPE PITX1 SC5D NKX2-5 BMPR1B PLXND1 NXN TBL2 GPC4 SHANK3 SOS1 RFWD3 DYNC2H1 ERCC4 NKX2-6 MEIS2 BHLHA9 OTUD5 AKT1 PIGN TP63 COL11A1 NRAS MIA3 BBS9 MKS1 SATB2 FGFR2 TBX15 HOXD13 RERE PRKCZ PLAG1 PYROXD1 KCNK4 IGF2 TMEM67 EMG1 WDR4 DVL1 RSPRY1 GJA1 SCAPER GNAS CEP290 CTCF ROR2 GPC3 CDT1 CFAP418 MAPK8IP3 FGFR3 EXT2 PQBP1 DYNC2I1 SOX6 LBR RUNX2 NCF1 MEGF8 CREBBP B9D1 SMARCC2 KIF15 PUF60 DNAJC30 GMNN GDF5 MYLPF KIF7 SALL1 PPP2R1A CCDC8 RRAS2 CEP55 B3GALT6 YWHAE BCR KCNJ2 CD96 CHD7 BBIP1 FLNA BCL7B HIC1 TXNDC15 EVC2 RAD21 CCNQ GATA6 LMX1B LZTFL1 PTPN11 ARID2 TBX1 SLC9A7 BUB1 BRCA2 C12orf57 GDF1 CEP152 ORC1 RNF216 WDR35 CHSY1 SRCAP ORC4 UBR1 MECOM ELN ARID1B PIGH AKT3 NIPBL CIBAR1 CUL7 EIF4H STAG2 INPP5E GLI3 CITED2 PACS2 HOXA11 B9D2 NSUN2 NEK1 ZDHHC9 FANCA RRAS LIG4 CCND2 IFT52 DHCR7 UBE4B BBS2 H19 PORCN BRD4 BUD23 PLK4 SETBP1 ATG7 EVC DACT1 CLDN3 TFAP2B GATA4 TBC1D24 CC2D2A TMEM216 ODC1 FANCB RPL10 TBX4 HSPG2 TBX3 DSP SDCCAG8 KMT2A AUTS2 MECP2 NAA10 SIAH1 KDM1A ZNF462 SLC29A3 STAG1 LEMD3 MACROH2A1 QRICH1 FANCF CANT1 KDM6A PNPLA6 PIK3R2 ZNF292 FGF10 XRCC4 GJA5 GLI2 B3GLCT FGD1 VPS13B JAG1 ARMC9 PDE6D REV3L CEP57 FZD2 EP300 BRCA1 TMEM270 BBS4 TRIM32 CEP19 PDPN PHF21A SOX11 RAD51C CEP120 CNOT3 BUB3 RIT1 BCOR CHRNA7 TMEM231 GTF2IRD1 RAI1 DEAF1 KRAS HYLS1 RAF1 OFD1 CCDC32 FLII ATRIP IFT80 BBS12 TCTN3 C2CD3 FBXW11 SLC2A10 PIEZO2 IFT27 NPHP1 SMC3 TELO2 SLX4 KPTN POLA1 WNT5A CCDC28B BMP4 CSPP1 ZFPM2 RAC1 IFT43 DYNC2I2 BBS5 MBD5 BBS7 MASP1 DPF2 FLT4 SMO CNOT2 METTL27 TCF20 SEMA3E ZNF141 BLM ZC4H2 IFT74 TRAPPC9 ATP6V1B2 SHOX CUL4B SMARCB1 LMNB2 XRCC2 HDAC4 CDC6 TRAIP WDPCP UBE3B DYM PCNT TMCO1 PTEN AMER1 PKDCC PIGS SPECC1L DPAGT1 KIAA0825 TFAP2A DONSON LUZP1 TGDS SMARCA2 NONO PLAA KDM4B KAT8 LMBR1 SHH FANCC RFC2 USP7 UBE2T PIGL CRKL IFT172 RAD51 SMARCD1 IFT122 OGT SNRPB IFT140 COL2A1 AFF2 ARID1A TMEM237 MAD2L2 RB1 TMEM107 SOX4 NOG LIFR L1CAM PRKACB CLIP2 FANCE ABHD11 DHPS CKAP2L SMARCE1 RPGRIP1 WNT7A FANCI LAT2 STX1A KCNAB2 TTC21B PAFAH1B1 SMARCA4 MLXIPL FANCL EIF4A3 TGFBR1 AGO2 TRPS1 MAPK1 LIMK1 IQSEC2 SKI CDC45 TRRAP KDM6B BAZ1B XYLT1 IHH PACS1 GATA1 DVL3 TRIO MRAS WIPI2 MAF PIK3C2A CASZ1 SNRPN PRDM16 LZTR1 IGF1 JUP CENPJ PTH1R SMC1A GTF2IRD2 ALG12 ESCO2 TTC8 BRAT1 ATRX FKBP6 CLDN4 FLNB RASA2 CHST3 VPS37D TRIP13 FANCG COX4I1 TWIST1 ORC6 KLF13 BRIP1 FANCD2 GABRD UBE3A FANCM PALB2 BBS10 KAT6B HP_ABNORMAL_5TH_FINGER_PHALANX_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_5TH_FINGER_PHALANX_MORPHOLOGY BHLHA9 TFAP2B RUNX2 GJA1 GDF5 GNB2 WNT5A KIF15 HOXD13 BMP2 GATA1 MYCN IGF2 NIN ROR2 DVL1 BMPR1B PUF60 ZNF141 ARID1B COL2A1 RBBP8 NOG HP_ABNORMALITY_OF_THE_MIDDLE_PHALANX_OF_THE_5TH_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MIDDLE_PHALANX_OF_THE_5TH_FINGER BHLHA9 TFAP2B RUNX2 GJA1 GDF5 GNB2 WNT5A HOXD13 BMP2 GATA1 MYCN IGF2 NIN ROR2 DVL1 BMPR1B PUF60 RBBP8 NOG HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_5TH_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_5TH_FINGER TFAP2B ARID1B COL2A1 IGF2 GJA1 HP_ADVANCED_OSSIFICATION_OF_CARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADVANCED_OSSIFICATION_OF_CARPAL_BONES B3GALT6 SETD2 SLC10A7 CANT1 XYLT1 PTH1R SLC35D1 HP_OSTEOARTHRITIS_OF_THE_SMALL_JOINTS_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOARTHRITIS_OF_THE_SMALL_JOINTS_OF_THE_HAND ASPN MATN3 SMAD3 TRPV4 TRAPPC2 HP_DUPLICATION_OF_HAND_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUPLICATION_OF_HAND_BONES NSD2 CEP120 RPS28 GJB6 TCTN2 LMBR1 DYNC2LI1 SALL4 GPC4 MKKS TFAP2A RPS15A SIX3 MAFB BCOR ADA2 NUP107 TMEM231 ALX3 KIF7 RAI1 ARMC9 RPL18 BBS1 ARL6 DEAF1 AHI1 FGFR1 FANCB HYLS1 DDX59 TMEM237 GLI3 PIK3CA ROR2 OFD1 WDR19 SC5D RAB23 STIL FLII HOXD13 TBX3 MBTPS2 IFT80 BBS12 TCTN3 GLI2 C2CD3 RPL35 TMEM216 RPL35A SH2B1 IFT27 FANCA MKS1 NPHP1 CEP41 ZIC2 SMOC1 DYNC2I1 GATA1 TCTN1 ACTB FANCC LHX4 RPGRIP1L NELFA CCDC28B BMP4 CSPP1 TSR2 ACTG1 FLNB EFNB1 ARL13B FGFR3 DYNC2I2 POU1F1 BBS5 BBS7 CEP104 SMO INPP5E EVC SHMT2 TMEM67 RPS27 PTEN ZNF141 BLM GJA1 DYNC2H1 IFT74 ZNF423 CBY1 ARL3 CHD7 OTUD5 PROP1 BBS9 CTBP1 FGFR2 SALL1 WDPCP TMCO1 RPS20 PORCN RPL5 SHH DVL1 LHX3 SCAPER BHLHA9 NEK1 HESX1 PDE6D ZNF699 CEP290 EFTUD2 GPC3 GLI1 CC2D2A BMPR1B CFAP418 KIAA0825 FGFRL1 RPS29 PLAA CPLX1 LBR RPS10 RPS26 MEGF8 WNT5A B9D1 RPL26 PUF60 FAM149B1 GDF5 PAH DISP1 IFT172 FGF8 CD96 CPLANE1 BBIP1 FLNA TXNDC15 IFT140 RPS24 PIGG EVC2 CHN1 SEC24C PIK3R2 TMEM107 LZTFL1 HOXA13 PRKACB RPL27 KIAA0586 COMT TMEM138 TBX5 INTU SEMA3E ZIC3 JMJD1C EBP WDR35 CHSY1 LETM1 ACOX1 AKT3 RPGRIP1 WNT7A CIBAR1 ABCA12 TTC21B UBE2T B9D2 CCND2 RPL15 FANCD2 DHCR7 RPS19 LEMD3 BBS2 CANT1 RPS7 CCDC22 TGFBR1 KATNIP SETBP1 HIRA PIBF1 DACT1 IQSEC2 TFAP2B FGF10 TBX1 RPL11 PHF8 UFD1 SDCCAG8 RPL31 NAA10 FANCE RBM10 FLI1 GP1BB ESCO2 EXTL3 SUFU TTC8 ARVCF PNPLA6 KIAA0753 RREB1 PPP2R3C WASHC5 BBS4 TRIM32 TWIST1 RPS17 CEP19 BBS10 HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_HAND BHLHA9 TFAP2B GDF5 FLNA RECQL4 SALL4 NOG HOXA13 FGFR2 SMOC1 HOXD13 IHH EVC2 BMPR1B DYNC2LI1 EVC POR CHSY1 ROR2 ZIC1 FGFR3 PQBP1 ESCO2 GLI1 MACROH2A1 NONO B3GALT6 PITX1 MYH3 ATP7A TWIST1 PAX3 APC PTDSS1 FLNB FGF9 ANAPC1 FBLN1 MAP3K7 FGF16 TCF12 NXN RBM8A LRP4 HP_SHORT_PALM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_PALM PTH1R ATP7A ADAMTSL2 SIL1 IHH CAMK2G RAB3GAP2 HERC2 LMNA MAPRE2 DVL1 COG4 YY1AP1 ORC1 RECQL4 SNIP1 RMRP KDM5C ROR2 WDR35 SCUBE3 COL2A1 CHSY1 COL9A2 WDR81 TBCE SMAD4 MRPS28 WAC GPX4 ANTXR2 CCBE1 DYNC2I1 FGD1 FZD2 IFT80 PRKAR1A SMARCA2 WNT5A SIN3A FGFR3 FGFR1 NOG DYNC2I2 COL11A2 MBD5 BGN FBN1 EVC TBL1XR1 MAPK1 RAI1 GPC4 SNORD116-1 PIGL DYNC2H1 EVC2 KRAS CUL4B PIK3R1 PTDSS1 FLNA GDF5 COL11A1 HDAC4 GATA1 DVL3 TRIO TRIP11 NDN BHLHA9 RSPRY1 FGFR2 PWRN1 GPC3 IGF1R SH3PXD2B RNU4ATAC KAT6B MKRN3 TONSL PWAR1 HDAC6 KDM4B DPM1 CRLF1 PUF60 MSL3 NPAP1 B3GLCT KLHL15 MAP3K7 CRKL BCR SNRPN INPP5K PPP2R3C KCNJ2 FGF9 MAGEL2 INPPL1 TRPS1 SNORD115-1 LTBP3 HP_NARROW_PALM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_PALM VPS13B KANSL1 SNRPN PWRN1 NDN AUTS2 DPYSL5 HERC2 MAGEL2 SNORD116-1 NPAP1 UBE3B SMS SNORD115-1 MKRN3 PWAR1 HP_PSEUDOEPIPHYSES_OF_HAND_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSEUDOEPIPHYSES_OF_HAND_BONES CPLX1 RAB23 PCNT CTBP1 NKX3-2 RPS6KA3 KCNH1 LETM1 SALL1 GDF5 NSD2 BMPR1B FGFRL1 HP_ABNORMALITY_OF_THE_GASTRIC_MUCOSA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_GASTRIC_MUCOSA BAZ1B SKIV2L RIPK1 GTF2I ABCC2 GTF2IRD1 RASGRP1 CLIP2 CTLA4 KRAS CDH1 ABHD11 LRBA GBA ELN CASP10 FOXP3 IL1B GTF2IRD2 FAS EIF4H CISD2 PRKCD LAT2 STX1A NCF1 RFC2 FKBP6 AIRE CLDN4 DNAJC30 TTC37 VPS37D FASLG MLXIPL IL1RN BUD23 WFS1 CARD8 TMEM270 SYK LBR METTL27 BCL7B TBL2 ARID1B LIMK1 CLDN3 PLA2G4A NFKB1 HP_ABNORMALITY_OF_THE_BILIARY_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_BILIARY_SYSTEM SLC4A1 ATP7A PEX6 GTF2I NEUROG3 ATP11C HBB ENG CCDC47 STX1A FLI1 HNF1B PKLR FECH ARL6 TJP2 CPA1 ABCC2 HOXD13 SPOP DCDC2 NR1H4 PKHD1 SPTBN1 IER3IP1 HFE PEX3 RPGRIP1L RFXAP POMC PEX10 PSAP IL2RG PEX12 IFIH1 SCNN1B SAMHD1 TSHB ADK SC5D POU1F1 MPV17 TMEM67 RFX6 RHCE ABCB4 LBR SLC6A14 TBL2 HADHA BCS1L CFTR ACVRL1 CIITA ABCB11 ATP8B1 PHKG2 UGT1A1 CDIN1 GLRX5 CTBP1 MKS1 PEX16 GCLC EPB42 NPC1 BBS1 SAA1 PEX5 SLC26A9 SLC26A4 LHX3 RINT1 DMPK FOXF1 CEP83 ZNF699 CTCF FCGR2A CYP7B1 PALLD UQCRFS1 FGFRL1 BRCA1 GLIS3 PEPD NPHP3 CPLX1 NCF1 ASXL1 TGFB1 DNAJC30 CDKN1B KCNN4 NPC2 RFX5 ERCC4 FH PEX19 TPI1 ABCD3 ADAR BCL7B NEK8 DCTN4 PIGA EDNRA SEC24C CPOX CEACAM6 SLC2A1 SPECC1L IL12A IYD CDKN2A BRCA2 COMT GYPC EPB41 EIF2AK3 PNPLA2 SLC5A5 JMJD1C PRPS1 TSHR IARS1 CYP27A1 GSTM3 PHKA2 F5 UBR1 G6PD SPINK1 GALM GBA ELN SEC23B TREX1 KDM5C SLC10A1 EIF4H INPP5E PRF1 ITCH SMPD1 SLC30A10 LIPA JAG1 SHPK STK11 ANK1 LYST DHCR7 SETD2 CASK CCDC115 TBX19 BUD23 BAAT APOA1 SLCO1B1 ARL13B DGUOK HIRA RHD CLDN3 ETFDH CYP7A1 TBX1 CC2D2A AKR1D1 BLVRA MICOS13 AP1S1 TP53 CLCA4 DZIP1L PEX2 SMAD4 ETFB IRF5 ALG8 USP9X IL36RN SLC11A1 SPTA1 SLC25A13 PEX14 ARVCF LETM1 UNC45A PIEZO1 B3GLCT CLDN1 TPO PTPN3 RREB1 TTC7A IL18BP RAB27A TMEM270 AMACR KRAS PALB2 CASR NSD2 RNF43 SPTB VIPAS39 PRKAR1A GTF2IRD1 EARS2 SCNN1G PEX1 ESCO2 FADD ATP6AP1 PRSS2 PAX8 PEX26 OCLN TMEM216 LYZ LONP1 NOTCH2 RFXANK ARSA ZIC3 KRT8 LHX4 STXBP2 FCGR3B NELFA TMPRSS6 ARG1 CCDC28B GALE GPR35 MECP2 APC2 NKX2-5 POLG2 HADHB ALAS2 GATA6 ETFA HBG2 PARS2 METTL27 ALDOA SLCO1B3 TRMU LMNA FARSB RHAG PROP1 TCF4 MIF STX11 VPS4A SON TFAM ABCG8 POLG DUOX2 TNFSF15 HESX1 RNASEH2B DPAGT1 GNAS ANKS6 AP1B1 CEACAM3 INTU LMBRD1 ATP7B JAK2 IFT122 COG6 PYGL ALDOB RFC2 SEMA4D AIRE FUCA1 GPI GDF2 CTRC GALT SCARB2 CD40LG SLC51B FGA MED25 SP110 PIGG COG7 SLC44A1 CDAN1 VPS33B RNASEH2C SERPINA1 PEX11B KMT2E TTC37 CLIP2 TNPO3 KIF3B ABHD11 UNC13D LPL WDR35 MMACHC PFKM ACADVL RNASEH2A CEP290 NSD1 TRAF3IP1 RABL3 COX4I2 CNOT1 LAT2 IFT172 IL12RB1 TG HSD3B7 GALK1 IFT140 PGM1 HMOX1 IL21R NBAS KRT18 LIMK1 ALG6 HK1 EPCAM BAZ1B HMGCL HSD17B4 SLC16A2 MMEL1 UFD1 RNU4ATAC ADAMTS13 DUOXA2 MST1 SCNN1A UROS PEX13 YARS1 GTF2IRD2 GP1BB GNE TRHR B2M SLC9A3 ATP6AP2 BPGM FKBP6 GCGR INSR POU2AF1 CLDN4 VPS37D MLXIPL DHFR GFM1 ASAH1 PRSS1 SPIB PCSK1 HP_ABNORMALITY_OF_THE_ABDOMINAL_WALL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ABDOMINAL_WALL ATP7A A2ML1 C1R COL1A1 RTL1 GTF2I SIX3 SATB2 COLEC10 DIS3L2 TENT5A LFNG KCNJ8 SH3PXD2B FBN1 VANGL2 FGFR1 BMPER FREM1 MAMLD1 RAB23 HOXD13 TNRC6B ALG9 H19 RAF1 MBTPS2 SMAD4 COL1A2 GLRA1 RPS6KA3 SMCHD1 ZIC2 TGFB2 NAA10 TP63 CBL GALNS MAN2B1 DACT1 SMAD3 RPGRIP1L FLNB CDKN1C SIN3A SOS2 FREM2 TSHB GPHN ELN POU1F1 EZH2 PLAGL1 KCNA1 NXN PIGP TBL2 GPC4 SHANK3 BCS1L SOS1 RFWD3 NOTCH1 ALDH18A1 HEY2 DYNC2H1 PYCR1 ERCC4 CHST14 MYLK CWC27 TMEM70 SLC6A5 KRT1 GRIP1 PIGN COL11A1 NRAS TUBB GUSB NOTCH3 MKS1 CDKL5 PLAG1 CASK BRAF HSPG2 PORCN IGF2 SHH NFIX DVL1 LHX3 WDR19 NDUFA8 AMH DNMT3B CTCF ROR2 MEG3 GPC3 ADNP PLD1 MED12 ARSB DVL3 EHMT1 ERCC2 MTOR GLIS3 LMNA SIK1 SOX6 LBR LMOD1 ATP6V0A2 NCF1 MEGF8 CREBBP HYMAI ATRX COL3A1 DNAJC30 TMEM67 KIF7 DPH1 DISP1 MSX1 RRAS2 SETBP1 AEBP1 YWHAE BCR ATP6V1A COL5A2 FKBP14 FGF8 CD96 ANTXR1 FLNA BCL7B ZFP57 OCRL GTF2H5 HIC1 TASP1 C1S SEC24C DMXL2 PAX8 PTPN11 HLA-DQB1 SPECC1L IYD B3GAT3 GDF1 COMT TRIM8 GMNN COL5A1 SLC5A5 NEU1 JMJD1C SLC2A10 BRCA2 MYH11 MPLKIP PTCH1 TSHR FAH WDR35 FUCA1 GDF11 SRCAP EFNB1 TRAF7 SHOC2 ADAMTS2 NOTCH2 NIPBL NSDHL EIF4H TTC7A INPP5E PNKP RIN2 HMGA2 GLI3 SEC31A ABCC9 ATAD1 FANCA SHPK AP1S2 RRAS TOR1A RNF13 PPP2R1A DLK1 FBLN5 ACTA2 SETD2 MYH3 STIL TARS1 BUD23 CCDC22 COL2A1 KAT6A UBA1 PLOD1 HIRA PIK3CD GLI2 PIEZO2 CLDN3 MANBA DDRGK1 TBX1 PIK3R1 PTDSS1 CC2D2A ABCD4 ACTG2 ODC1 FANCB LRP2 RPL10 NALCN APC KCNQ1 BCL11B TBX3 SLC26A2 POLR3GL GTF2E2 TBCK XRCC4 KDM5B AUTS2 PUF60 CEP120 USP9X WNT3 SKI HNRNPA1 ATP6V1E1 P3H1 FANCF CANT1 BRAT1 CHRNG ARVCF PLOD2 ISL1 AGA B3GLCT KNSTRN FGD1 TPO PRDM5 NEK9 COL11A2 RREB1 FZD2 TWIST2 WASHC5 BRCA1 TMEM270 NFIA AMHR2 MMP2 STXBP1 KMT2C CHRM3 RAD51C GAD1 LONP1 NLRP3 CDH11 STRA6 RIT1 GTF2IRD1 RIPPLY2 KRAS SLC25A24 FOXE3 HELLS NPHP3 IRF6 CLDN19 ESS2 SERPINH1 FBXW11 FOXF1 PIGQ KCNQ1OT1 IDS POLR2A PPP2CA DYNC2I1 BCOR MESP2 ZIC3 TGFB3 SLX4 LHX4 CHST3 SCN1B GLB1 IFT80 WNT5A LDHD PITX2 RAC1 APC2 ADAMTSL2 DYNC2I2 NKX2-5 ABCC8 IDUA GATA6 MASP1 ARX PIEZO1 FTO EED RNF113A EFEMP2 METTL27 CBS ARID1B DGCR8 GJA1 CHD7 CUL4B FARSB CDC42 IRX5 GNAO1 XRCC2 PPP1R12A PROP1 DLL3 CDCA7 SALL1 HDAC4 TMCO1 CTNNB1 COLEC11 LOX AMER1 SLC10A7 DUOX2 BHLHA9 PIGS ERCC3 HESX1 ZMPSTE24 SUZ12 CTNND2 MED13L EN1 DSE TGDS IKBKG IFT122 GNE FANCC RFC2 UPB1 MFAP5 GLRB MTHFR UBE2T TTC37 PAH CRKL RAD51 ELOVL4 AR CHUK NECTIN1 SEMA5A MED25 DDX6 POGZ SLC25A22 MAD2L2 KDELR2 TGFBR2 GNPTAB SLC35C1 MCOLN1 SEMA3E CLIP2 SNIP1 SCN2A FANCE RMRP ABHD11 EOGT ZBTB24 DGCR2 NSD1 KCNH1 NEUROD2 BMP1 THRA ELMO2 FANCI CCBE1 LAT2 STX1A STS PAFAH1B1 DNMT3A TG HES7 MLXIPL FANCL CAVIN1 TGFBR1 DGCR6 MAPK1 BSCL2 LIMK1 HYLS1 FRAS1 TRRAP MMP14 SF3B4 PIGY TMEM107 BAZ1B SKIV2L XYLT1 SMAD2 NAT8L RNF2 CLCN4 PRKG1 PACS1 UFD1 MRAS TRIP11 KDM3B MAF FIBP RIPK4 DUOXA2 LZTR1 MAT2A ZEB1 DHCR7 LTBP4 FLI1 GTF2IRD2 KCNJ11 GP1BB MEIS2 OFD1 FGFR2 DYRK1A HLA-DQA1 FKBP6 AGPAT2 INSR CLDN4 RASA2 VPS37D BRF1 FANCG MECP2 PHGDH MAPRE2 GPC6 PPP2R3C BRIP1 FANCD2 IFT81 FANCM PALB2 RIC1 HP_FUNCTIONAL_MOTOR_DEFICIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FUNCTIONAL_MOTOR_DEFICIT KLC2 MRE11 RAD51 CIZ1 CACNA1A DNM1L PDE10A COL12A1 SLC18A3 TPM3 ERCC8 AGK EIF2S3 GRIN2A CHCHD10 PDK3 INTS1 MT-ND6 TGFB1 DOK7 ADAR NEFL SELENOI GALC PGAP1 MUSK ABHD5 NTRK1 SYNJ1 GABRB2 NOP56 SH3TC2 AP4S1 COL13A1 SLC25A19 GLRA1 STRADA MYH6 CDK19 SLC13A5 VCP MSTO1 MFF MT-TS2 RYR1 ERCC6 GYG1 PUS3 MTRFR SCN4A CHRND PSAP CHRNE DES CAPN3 IFIH1 PIK3CA SAMHD1 MYO9A ERLIN1 POLG2 ENO3 TBX20 RAPSN CNKSR2 ABCC8 GBA CLTC DAG1 GIPC1 CHRNA1 ISCU DYSF BCS1L SPG11 MEGF10 GIGYF2 TNPO3 NTRK2 PDGFB GABRA2 MATN3 HACD1 TRAK1 PHKG2 MAP3K20 SGCD GPT2 DMD CDKL5 BAP1 TRAPPC11 CYP27B1 PYROXD1 SLC19A3 SMS SLC1A2 SGCB GMPPB TOP3A TTBK2 MPL KBTBD13 POLG CDH23 RSPRY1 PLP1 GPHN MIEF2 SLC5A7 POMT1 ANO5 MPZ ADCY5 TPM2 ACAD9 WARS1 ELOVL5 TRAF3 WASHC5 HNRNPK PUS1 SYT2 RRM2B MT-TW CAPN1 TYMP BVES SORD ATP6V1A FKBP14 ACTL6B SLC25A1 COL6A3 KLHL41 MTMR14 TLL1 UBA5 ITGA7 BRCC3 SPEG CYP2R1 CCDC88C DNM1 NEB COLQ ORAI1 CWF19L1 TK2 EIF2AK3 PNPLA2 DNA2 TFG DCC MYO1H HADHA ERCC1 NUBPL COX20 PRNP DNM2 LDHA PHKA2 SDHAF1 TLR3 FKRP TRMT5 CHAT CHP1 TREX1 GRM1 KIF1C OCA2 PEX2 PRF1 SACS SLC30A10 CYFIP2 NUP62 PLEC ACTA1 UBE3A HERC1 FHL1 SLC34A3 WDR48 GATA6 PARS2 UNC93B1 ADSS1 PYGM GTPBP3 AARS1 NKX6-2 SCN3A SGCG TPP1 REEP1 SMO TCAP EEF1A2 GJB1 DPAGT1 FAR1 GJC2 AP4B1 DNAJB6 GCDH RPL10 MATR3 SCO2 STXBP1 SLC30A9 PLEKHG5 PHKA1 SLC7A6OS MYPN CCN6 CRYAB WWOX PRX PEX6 SLC25A4 SDHB RASA1 RNU12 SLC2A3 GFPT1 USP9X CPT2 MECP2 FLNC MT-TF VPS35 SETX PANK2 HK1 ACOX1 ARHGEF2 GLE1 FGF14 ATL1 YARS2 POMT2 CLN8 GRIN2D KY ATP13A2 PPP3CA MT-TQ BAG3 AP4M1 PMP22 SDHA MT-TK LRRK2 CITED2 POMK BSCL2 GBA2 COX7B LAMB2 SPG21 AGRN COL6A2 STIM1 CDK8 COL6A1 SDHD SQSTM1 EXT2 NDUFS4 MT-TS1 RNASEH1 ATP6AP2 PRKAR1A NTN1 ASAH1 RTN2 ATP5F1D MFN2 MT-TE GABBR2 DYM C1QBP SIGMAR1 GYS1 RARS1 POLR2A GAN MYL2 ARSA AKT1 PGK1 FBXO38 CHRNB1 EIF4G1 STXBP2 GRID2 POPDC3 AP4E1 ARG1 NDUFB11 KCNA2 BICD2 GOSR2 RSPH9 UBAP1 LRP4 AIP GABRG2 TTN LMNB1 PIK3R5 VPS13A KCNJ10 SPART HADHB WARS2 NECAP1 CPT1C DYNC1H1 MYF6 CRPPA LAMA2 COQ2 MGME1 MT-TH CELF2 PGAM2 FARSB MORC2 HCN1 TBK1 MEN1 STX11 FARSA FLAD1 SCYL1 KLHL9 MT-CO1 ATP2B3 NACC1 SBF2 RNASEH2B GPAA1 KCNC3 SLC25A32 ALAD ALDH4A1 ARL6IP1 HSPB3 VAMP1 TRAF7 ATP7B TAFAZZIN KCND3 RSPH4A DNAJC13 GATA4 ARV1 VMA21 FGF13 MT-ATP6 SUFU NKX2-1 HINT1 COQ8A EPHB4 FOXG1 ACTC1 LAMP2 TAF1 TDP2 TGM6 MED25 ALG2 MT-ND4 DDX6 FIG4 SNCA FA2H RAB11B AP3B2 TMEM251 AK9 VPS13D ALG14 RNASEH2C MT-TL1 KCNB1 MTPAP COASY HCCS SPAST ARSI BIN1 POMGNT1 FUZ CALR ABCD1 UNC13D MYOT SMARCB1 PFKM SNAP25 RNASEH2A TICAM1 TET2 FTL DARS2 TIA1 NTNG1 FDX2 MARCHF6 MYH7 MT-CO2 FKTN MT-TN MICU1 DNAL4 C19orf12 IBA57 VDR GABRA5 FLRT1 DHTKD1 JAK2 CACNA1B NF2 SMARCE1 NKX2-5 MT-ND1 CAVIN1 PGM1 HPCA AKT3 MT-ND5 TWNK DAB1 NEFH PYCR2 NDUFS8 MAPT SMC1A COA3 SURF1 DHDDS TRPV4 TERT MT-CO3 B4GALNT1 SCN8A TBC1D23 CASQ1 TMEM126B EXT1 YWHAG HSPB1 SYNGAP1 FGF12 ALS2 VWA1 SELENON HACE1 ASPA STUB1 PMP2 SGCA NOL3 DLAT HTT GDAP2 DDHD1 NUS1 JPH3 DALRD3 MT-CYB SZT2 ERCC4 TBCE FUS PKP1 LRP12 HP_ABNORMAL_MUSCLE_FIBER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MUSCLE_FIBER_MORPHOLOGY PPARG COQ2 TOMM40 CFL2 SELENON COL12A1 GNE SLC18A3 TPM3 CHCHD10 MT-ND6 MT-CO2 MT-TV ABHD5 MT-TP CAPN3 TK2 TTN COL13A1 TNXB FXR1 MSTO1 MT-TS2 RYR1 SGCG SCN4A CHRNE MT-ND1 MYO9A POLG2 LMOD3 ENO3 MT-ND4 CARS2 MYH7 DAG1 MT-TE CHRNA1 COQ5 CRPPA MT-TF POLG ISCU DYSF BCS1L SPG11 DPM3 VCP DOK7 DPAGT1 TNPO3 TWNK HNRNPA2B1 GABRA3 MT-ND2 HACD1 PHKG2 ABCA7 EMD MAP3K20 HNRNPA1 PYROXD1 SGCB SUCLG1 CCDC174 GMPPB PFKM KBTBD13 MIEF2 MT-TW POMT1 SLC22A5 SLC25A26 TPM2 MT-TL1 HNRNPK SYT2 RRM2B TYMP MT-TC BVES SLC25A1 COL6A3 KLHL41 MTMR14 PSEN1 CLCN6 ITGA7 SPEG NEB COLQ MT-ND5 PNPLA2 MYH14 DNM2 PHKA2 SIL1 CHAT CHRND LMNA ASCC1 MT-TQ ANO5 ACTN2 CAV3 APP MT-TK ACTA1 MYPN PYGM RAPSN DHX16 MT-TS1 CACNA1S TCAP COL6A1 SPTBN4 AIFM1 DNAJB6 MATR3 LARGE1 CRYAB LAMA2 PSEN2 GFPT1 CPT2 FLNC FKRP FHL1 POMT2 CCDC78 TREM2 GYG1 TRMU ADSS1 SARS2 KLHL40 MT-TI POMGNT1 LAMB2 AGRN COL6A2 STIM1 SLC5A7 TRPV4 SQSTM1 NDUFS4 MT-TN EARS2 GLI3 KCNJ18 PHKB GIPC1 TRIP4 SIGMAR1 GYS1 ALG14 SLC25A4 MYL2 MT-ND3 CHRNB1 POPDC3 MYOT HNRNPDL FKTN HPDL TMEM43 VPS13A AFG3L2 MYF6 MT-TH LDB3 TOR1AIP1 TIA1 MT-CO1 NEFL SYNE1 PLOD1 TRAPPC11 SLC25A32 BIN1 MUSK SYNE2 LRP4 TNNT1 COQ8A ALG2 MT-TL2 AK9 MT-RNR1 KCNA1 ORAI1 GARS1 CNBP COX6A2 OPA1 MT-ATP6 SNAP25 IFIH1 MICU1 STAC3 SORL1 KY PABPN1 TRIM32 NOTCH2NLC MT-ATP8 MYO18B SDHA NEFH UBA1 MGME1 MYH2 MT-CO3 NDUFB3 POMK VAMP1 UNC45B ALS2 NDUFA4 CASQ1 PNPT1 MT-CYB ALDOA SURF1 DYNC1H1 KCNE3 DGUOK SPG7 FUS GFER LRP12 HP_INVOLUNTARY_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INVOLUNTARY_MOVEMENTS PSEN1 SDHD PRDM8 SLC25A15 SATB1 MECR DCTN1 PDYN CACNA1A ADGRG1 SEMA3A GRIK2 NDP SLC6A8 TCTN3 DNAJC6 GABRB2 SH3TC2 ERCC8 SLC39A14 CEP41 KAT5 FXR1 SPG11 FGF14 CACNA1B UBE4A NKX6-2 SPEN MT-TS2 ATXN10 SCN8A STX16 GABRG2 ZEB2 NEXMIF MT-ND1 PC KIF5A ZSWIM6 PIK3CA VLDLR SAMHD1 ATXN7 ITPR1 FGF8 SCN2A MT-ND4 ABCC8 INPP5E KCNA1 ANO10 NTRK2 TWNK TMEM70 SNRPN MT-ND2 NGLY1 TRAK1 ABCA7 TBP PRKCZ ALDH18A1 SUCLG1 CACNB4 PRRT2 PLP1 NAGA DOCK7 ERCC2 CABP4 MYOT EXT2 AFG3L2 MT-ATP6 ZFR KCNB1 NCF1 TMEM237 CUX1 CERT1 ELOVL4 PUM1 WASHC5 AP2M1 ATCAY B3GALNT2 RFT1 RRM2B PROK2 UGDH CCT5 TPI1 EIF2AK2 TBK1 GJB1 UBA5 SLC13A5 MT-TF HNF4A ACAT2 DMXL2 DNM1 ARX BICRA NEFH ALKBH8 AHI1 MBD5 TK2 XPR1 PPP2R2B NEU1 PGAP1 FBXL4 FBXO7 PRNP ATXN8OS PGAP2 EFHC1 CAPN1 ELN SCN1A ZNF142 TANGO2 EIF4H DRD2 TMEM106B HPRT1 HLA-DQB1 PFN1 NEFL WFS1 KIF1A FTL VPS37A CYFIP2 NUP62 TOR1A LYST MT-CO1 TAOK1 CILK1 WDR45 DEAF1 GRIN2A AARS1 SCN3A EPM2A PNPO RAI1 HTRA2 PSAP TPP1 NHLRC1 GLI2 CLDN3 HNRNPH2 SMN1 RAPGEF2 SPTBN4 SNCA HSPG2 SLC30A9 TIMMDC1 TBCD EXOSC3 POLR1C PLA2G6 WWOX ERLIN2 C9orf72 DISP1 ERCC5 DCAF17 QRICH1 SUFU ATL1 PPP3CA TREM2 AP4M1 TOE1 FGF13 NCDN GBA2 PET100 TIMM50 TSHR TMEM270 OPA3 PTCD3 TRAPPC11 FUS HERC2 HS6ST1 SLC25A46 SPTBN2 POU4F1 HPCA RTN2 KCNJ18 SIGMAR1 GUCY2D PHACTR1 TBC1D24 ADAR CLTC AKT1 CLN8 GLA ADGRV1 GLYCTK ZIC2 BAP1 MECP2 TKT KCNA2 TMEM127 KMT2B RAC1 TARDBP ZC3H14 CEP104 GM2A MAG LAMA1 MED23 RNF113A METTL27 TH NDRG1 SOX10 CLCN7 CYB5R3 SLC6A9 GBA TSEN54 KYNU REEP1 CUL4B TTC19 KCTD7 PPP1R15B HCN1 RORB METTL23 NIPA1 PRSS12 GABRB3 PAH SCYL1 NADK2 KCTD17 NACC1 PDE6D PITX3 ABCB6 POLR3A SETD1B TRAF7 RFC2 PIGW ATXN2 VCP ATP13A2 SAMD12 CYB5A CRKL FOXP1 PEX10 RSRC1 NOTCH2NLC BCORL1 BOLA3 ATP1A2 JRK SQSTM1 MAPT CACNA1D DDX6 FAM126A AARS2 PDGFB STUB1 FGFR1 MAN1B1 MMAA PRUNE1 RAB3GAP2 CLIP2 SNCAIP MRPS34 COG8 EDC3 POLG GJC2 OPHN1 LETM1 FOXRED1 CIC TMEM216 HSPD1 MOCS2 GRIA4 AMACR COQ2 CACNG2 PRKRA SCO2 CPLANE1 ARSA DEPDC5 ACO2 SOX5 SMC1A KATNIP SDHA MAPK1 ERCC6 OPTN MICU1 TMEM67 NDUFAF5 DHDDS VWA3B NDNF POLR3B SLC9A1 TGM6 PDE2A TBC1D23 PDE10A MBOAT7 SYNGAP1 FGF12 ALS2 VWA1 SOD1 MT-ND6 TCF4 FMR1 KCNQ3 BRAT1 NOL3 MED12L POU3F4 NUS1 NDUFB8 CTDP1 PHGDH NARS1 SZT2 NPHP1 TTI2 KCNJ10 DYNC1H1 CCDC88A NEMF ATXN3 SEPSECS MRE11 LMNB1 HMGA2 GTF2I CNTNAP2 RAB39B DNM1L ATP7B TTR GALC PTS RPE65 UROC1 NR1H4 SYNJ1 CLPB AP4S1 SARS1 GLRA1 SPTBN1 TAF1 TXN2 RAB18 STXBP1 NAXE MTRFR UFSP2 NDST1 CDH15 ZFYVE27 ERLIN1 MGAT2 SCN4A SLC16A2 CHAMP1 SIK1 CSNK2B ZMYND11 TRAPPC9 TRAPPC12 DYSF ANO3 SLC6A5 GABRA3 ATP8B1 GABRA2 TACR3 CACNA1E CCDC141 RERE SMS PTEN YEATS2 TSC1 ERGIC1 GLRB CACNA1H PIGN ZFYVE26 RNASET2 MPZ HUWE1 DPM1 SCARB2 CEP120 SYNE1 DNAJC30 DYRK1A CARS2 NPC2 TAT VPS13A ACTL6B PNPT1 CHD2 FRRS1L RARS1 CSTB LRSAM1 ATXN1 SLC39A4 SLC2A1 TBX1 SHH CWF19L1 KIAA0586 PNPLA2 PSAT1 UBTF BSCL2 GPAA1 PMPCA TMEM240 CRH GRIA2 DENND5A ATP7A LINS1 CAMK2B PNKP DPAGT1 TSPOAP1 UBE4B KIRREL3 RAB11A FRMPD4 PIBF1 GAMT SMO CREBBP SLC17A5 PPT1 POMT1 GCDH KCND3 ATP1A3 B9D1 TUBB4A SLC7A6OS UBE3A GRIN2B GTF2E2 MICOS13 PEX6 DNAJC5 PSEN2 GRIN1 RET EPAS1 USP8 CSPP1 SLC52A2 PRKCG PMP22 KCNK9 NFASC PNPLA6 CUX2 FEZF1 KIAA0753 SMN2 STARD7 PRDX1 POMGNT1 SDHAF2 NOP56 ATN1 CC2D1A CTC1 TSEN34 SPRY4 CAMK2A PRPH CTH RORA THOC2 CCNF HTT MT-TS1 GTF2IRD1 KNSTRN ASAH1 C12orf4 MYBPC1 CHCHD10 TYROBP MFN2 SLC6A17 FLII TENM4 AP5Z1 GCK MT-ND3 PGM3 PIGA MT-ND4L KPTN VPS35 AP4E1 BICD2 UBAP1 DNAJC19 KCNMA1 SPART PIGY SNX10 SHMT2 GLDC MAPK10 MT-TH NLGN4X IQSEC1 LMAN2L GUF1 DUSP6 KCNC1 ITPA FGF17 NDUFA1 PRICKLE1 VAMP2 ST3GAL3 VAPB DLST GRN DCPS UFC1 NONO YY1 CACNA1S CD28 APTX LNPK MKS1 TTC5 COQ8A GFM2 FLCN TBR1 POGZ EZR SLC44A1 HSD17B10 AP3B2 SEMA6B MORC2 AMT MED17 PITRM1 NAXD MTPAP DRD3 SCN1B AIFM1 AP1S2 SMARCB1 EHMT1 SPR TMEM231 CLN3 FMN2 CNPY3 PURA HSPB1 LAT2 SORL1 MINPP1 RLIM MSTO1 GLRX5 NF2 TIMM8A SLC25A22 TNIK SCP2 LIMK1 CP UBA1 PCBD1 GPR88 CHD3 CACNA2D2 ST3GAL5 PIGC NR4A2 SLC52A3 PIGT ADAMTS13 CPLX1 SLC33A1 SET TCIRG1 CDK19 GRM1 MT-TL1 SPATA5 MT-TV GABRD MME TOMM40 CIZ1 GATAD2B SFXN4 NDE1 COL6A3 NSUN2 SLC9A6 AIMP1 GNAS ANOS1 WASHC4 PPP2R5D VPS41 RHOBTB2 BRAF KDM5B NAA10 NDUFS2 HINT1 MRM2 IFRD1 CEP126 IFIH1 GPHN POLG2 CNKSR2 LIAS CTNND2 SLC6A1 TUBB3 TRPM3 PDGFRB PINK1 HMGCL SLC46A1 TCTN1 SDHC GPT2 CDKL5 MT-CO3 SLC1A2 PIGP ADA2 CDH23 SLC5A7 CHMP2B MAX TFG KIF15 SLC25A10 GCH1 TSEN2 MT-TW SELENOI ATP6V1A BCL7B ATM ADNP MDH2 CCDC88C MT-CYB NTNG2 SLC6A3 MT-ND5 MYH14 ATP6AP2 MACF1 SUOX MPLKIP WDR81 EPB41L1 KIF1C PEX2 SACS FLRT3 APP EIF4G1 SERPINI1 CASR ABCB7 MT-TK KIF1B TARS1 BUD23 HNMT KAT6A OSTM1 ATG7 VRK1 SLC18A2 HDC LRRK2 UCHL1 EEF1A2 GNAO1 CC2D2A SLC12A6 NLGN3 SLC12A2 PNKD ADPRS CAMTA1 AUTS2 RFC1 DPYSL5 CTLA4 FKRP EXTL3 PIK3R5 MARCHF6 FH GRIN2D CA8 ADCY5 AR SCN9A MRPL12 ELP2 MT-TI POMT2 SLC20A2 NDUFV1 PGAP3 CRADD PDPN SUCLA2 CHD1 NF1 ABCB4 APOE NDUFS4 IREB2 HIBCH PIGL FLVCR1 ARMC9 MT-TP NAGS GABBR2 SC5D KMT2A MEN1 SLC30A10 KCNT1 ATAD1 PIGQ ADH1C HEXB RTTN TRIO ADSL KDM1A NUP214 STX1B FBXO38 LRPPRC GOSR2 TNFSF11 QDPR MYORG GCSH NAA15 CTSF ARID2 SIX3 MADD AUH CELF2 CHRNA2 CLIP1 HECW2 CACNA1G ACBD5 FOXG1 ACP5 VPS4A ZBTB20 TRAPPC6B C19orf12 OPA1 PNP ATP2B3 ERCC3 IQSEC2 KCNC3 SLITRK1 LUZP1 VAMP1 AGTPBP1 DNAJC13 ARV1 KCNQ2 GABRA1 TNNT1 NKX2-1 GALT UBQLN2 FA2H RAB11B VPS13D RNASEH2C SPAST MAOA PLCB1 ABHD11 DLL1 MTFMT GSS RNASEH2A GIGYF2 NSD1 UQCRC1 DARS2 NTNG1 NEUROD2 PTCHD1 DCC SYT1 MT-CO2 DLAT STX1A SETX GABRA5 UGT1A1 CLN6 PRKN AASS AKT3 WARS2 CNTN2 RPGRIP1L COA7 NAT8L ITM2B VPS13C WDR11 YWHAG POMK STAMBP XPNPEP3 NDUFA4 GTF2IRD2 ABCD1 DNMT1 VHL REEP2 DOCK8 VPS37D PODXL JPH3 SURF1 DHFR NDUFAF3 OXR1 MMUT ERCC4 RMND1 CAV1 ZNHIT3 PDK3 POU3F3 GNA11 MMP23B LMNB2 FAR1 TNFAIP3 SH2B1 HIVEP2 HMBS GRM7 DHX30 CERS1 SDHB OCRL ARL13B PRODH COQ5 TBL2 SGCE EP300 CBY1 ARL3 CLN5 LARP7 CRBN CARS1 CASK GGT1 CYP7B1 TSC2 CHCHD2 FARS2 FGFRL1 BEAN1 GLUD2 ELOVL5 EPRS1 CRAT PUF60 PDHA1 DNMT3A XPA BCR HESX1 DAB1 GTF2H5 TRIM8 SLC25A42 MEF2C PRPS1 COX20 TCTN2 SAMD9L NOVA2 TTPA BRSK2 TREX1 MTM1 RYR1 OCA2 GRIA3 SMPD1 SETD2 PARS2 STIL TSFM KIF5C ASH1L PIK3CD HNRNPA1 KIF7 TSPYL1 AP4B1 RPL10 SLC25A13 SLC45A1 ABCB11 RNU12 SLC2A3 LEMD3 PANK2 IRF2BPL SLC1A3 TSEN15 MT-TQ GMPPB AFF2 NDUFA13 SLC25A11 PGK1 CHRNB2 CHRNA4 NDUFA9 EXOSC9 MARS1 OFD1 FBXW11 HYLS1 NSD2 PIGV NUTM2B-AS1 KCNQ5 NBEA PROKR2 MED25 APC2 SNORD118 POLR3K EMC10 CHD7 NECAP1 TECR MYT1L ATP6V1B2 WDR26 SLC25A21 CHMP1A TMEM63A HDAC4 SHANK3 RNASEH2B SMARCA2 SPOP AFF3 FXN TANC2 TNFRSF1B FAM149B1 UQCRQ MOCS1 DDOST SLC19A3 FBXO31 PARK7 THAP1 SLC25A4 GTPBP2 CYP27A1 LEMD2 CTBP1 AMPD2 MYO5A HCFC1 MMACHC IL17RD PLPBP KCNAB2 ADRA2B ASXL3 SMARCE1 SPTAN1 TNRC6A HNRNPA2B1 ATP5MK SKI BAZ1B ABHD12 NR2F1 TERT CLCN4 PIGO EBF3 CASZ1 PRDM16 CLCN2 VPS53 SLC1A4 PCDH19 THG1L FKBP6 CLDN4 MLXIPL HIKESHI DALRD3 COX4I1 TUSC3 DDC LRP12 HP_ABNORMAL_ENDOCARDIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ENDOCARDIUM_MORPHOLOGY CRELD1 TAFAZZIN TENT5A BAZ1B GLA KDELR2 HLA-B ENPP1 MYL3 GTF2I PRKAR1A UBAC2 IL10 IL23R GTF2IRD1 IL12A CLIP2 BRAF ABHD11 LDB3 MCM10 MEFV ABCC6 CSRP3 RAF1 CCR1 GBA ELN KLRC4 TRAF3IP2 STAT4 VCL GTF2IRD2 IL17RC IL12A-AS1 C4A EIF4H SLC22A5 NR2F2 LAT2 MYH7 MBTPS2 FAS STX1A NCF1 RFC2 FKBP6 IL17RA ACTN2 CLDN4 SP110 DNAJC30 IDUA VPS37D MLXIPL IL17F IL12B ERAP1 GATA6 BUD23 TMEM270 GATA4 METTL27 BCL7B TBL2 PDGFRA TLR4 MLX GJA5 LIMK1 CLDN3 PTPN11 CLEC7A HP_ABNORMAL_ANATOMIC_LOCATION_OF_THE_HEART http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ANATOMIC_LOCATION_OF_THE_HEART TMEM107 ARL2BP GDF1 KIAA0586 CFAP221 CFAP53 AHI1 DNAH1 NODAL TMEM231 ODAD2 RSPH4A ARMC9 INPP5E ZNF423 DNAAF2 DYNC2LI1 EVC DNAAF1 NPHP3 TCTN2 DNAH9 IRF6 SRCAP TCTN3 UBR1 MCIDAS MEGF8 HYLS1 RPGRIP1 SH2B1 DNAI2 DNAAF4 GLI1 CEP41 TTC12 SPAG1 BCOR ZIC3 DNAL1 MYRF TP63 DNAJB13 TCTN1 CFAP300 B9D2 CCNO DRC1 CCDC65 DNAAF6 CSPP1 FOXJ1 ODAD1 ARL13B HES7 CPLANE1 CCDC40 DNAAF3 ZMYND10 CEP104 DNAI1 LRRC56 KATNIP NEK10 MKS1 CEP120 PIBF1 DNAH11 RSPH3 PIEZO2 CBY1 ARL3 SLC19A2 GAS2L2 SPEF2 TMEM216 TMEM67 CCDC39 B9D1 WT1 OTX2 CCDC103 EVC2 MNS1 ODAD3 RSPH9 CC2D2A CFAP298 MMP21 RPGRIP1L ANKS6 PRRX1 PQBP1 ZMPSTE24 ODAD4 TGDS DNAAF11 TTC8 COL18A1 SUFU GAS8 TMEM237 LZTFL1 ACVR2B RSPH1 DNAAF5 LMNA OFD1 MSX1 CDH2 DNAH5 CFC1 CRELD1 NME8 INVS PKD2 NECTIN1 RPGR NEK8 TXNDC15 HYDIN STK36 CEP290 HP_VENTRICULAR_ARRHYTHMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULAR_ARRHYTHMIA RYR2 SCN5A GDF1 ABCC8 MT-TS1 KCNJ2 BMP2 RYR1 SCN1B GAA KCNJ18 MT-ND6 NDUFB11 MT-CO2 HCN4 SEMA3A KIT MT-TV ABCC9 LDB3 HNF1A KCNQ1 VHL JPH2 CUBN UCP2 RAF1 MYH6 MYH7 HMBS CSF2RB KCNH2 LMNA NAA10 CACNA1C CAV3 NDUFS2 MT-TS2 TRPM4 ACTN2 SNTA1 TSC2 TMEM43 SCN9A RANGRF POLG2 TTN TBX20 SLC19A2 CACNA1S MT-ATP6 TBX5 RHCE KCNE1 SCNN1A CTNNA3 GYG1 ASXL1 CALM2 MT-TH KYNU GABRA3 RHAG ALG10B JUP CACNA2D1 FLAD1 FBP1 MT-CO3 MT-ND5 SCN2B MT-CO1 PLN SLC12A3 CDH23 CPOX PKP2 RET ZNF699 TECRL CALM3 ECE1 MT-TW SDHC CSRP3 DSP IFNG AKAP9 CDH2 MT-TQ HLA-DRB1 SYNE2 CALM1 GATA4 ELP1 KCNJ5 PPOX CITED2 TET2 TSHR RRM2B KCNE3 MT-TC MYBPC3 ACTC1 LAMP2 SRSF2 SLC25A4 GJA5 DSG2 TNNI3K MT-ND4 MT-ND1 ABCA3 HNF4A MYL3 MT-CYB SLC25A20 MT-TL1 CLCNKB SDHD POLG CASQ2 CNBP TCAP DMPK GPD1L MT-TF TPM1 MTFMT NPPA ACADVL MAX MT-ND2 SYNE1 CACNB2 PRKAG2 SCN10A SDHB KCNJ8 DST GNAI2 BTNL2 MT-TK TANGO2 MED13L SFTPB GATA6 KCNE2 FMO3 DNMT3A NKX2-5 CAVIN1 PYGM GTPBP3 PGM1 MRPS14 TLL1 DPP6 KCNJ11 SCN3B RHD TRDN SCN4B NKX2-6 KCND3 VPS33A GNB5 MYOZ2 TMEM127 TSC1 FHL1 CPT2 ANK2 DNAJC30 TNNC1 TGFB3 TWNK PLXND1 AMN SFTPC SLMAP NOS1AP MYL2 SRY HFE DTNA DSC2 CSF2RA MT-ND4L KCNE5 EMD KIF1B HP_VENTRICULAR_PREEXCITATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULAR_PREEXCITATION MT-ND4 MT-ND1 MT-CYB MT-TS1 MT-CO3 MT-TL1 GAA MT-ND6 BMP2 MT-ND5 MT-CO2 MT-CO1 TCAP MT-TV TSC1 MT-TF MTFMT MT-ND2 MT-TW PRKAG2 DNAJC30 IFNG MT-TQ NDUFS2 MT-TS2 MT-TK TSC2 GTPBP3 MT-TC MT-ATP6 LAMP2 MRPS14 MT-ND4L MT-TH HP_ABNORMAL_MACROPHAGE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MACROPHAGE_MORPHOLOGY PRF1 XIAP SLC7A7 GLB1 PRTN3 HLA-DPB1 SMPD1 STXBP2 ASAH1 NCF1 HLA-DPA1 CYBB STX11 SAMD9L IFNGR1 LYST NEU1 SH2D1A RAB27A NPC2 APOE CD27 NPC1 UNC13D LIPA HAVCR2 SGCG OSTM1 CTLA4 SLC29A3 NCF2 CYBA PTPN22 HP_ABNORMAL_RETICULOCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RETICULOCYTE_MORPHOLOGY CFHR1 SLC4A1 RPS28 CDAN1 RPS15A CFH RPL27 ABCB6 SPTB UROS ADA2 GYPC EPB41 PKLR RPL18 RASGRP1 GCLC ABCG8 PIEZO1 PFKM G6PD RPL35 SEC23B CASP10 CUBN RPL35A STEAP3 FAS FANCA PGK1 GATA1 EPB42 FANCC TCN2 ANK1 RPL15 FANCD2 TSR2 RPS19 CASK KLF1 SPTA1 SBDS PRF1 RPS7 HBG2 SLC2A1 RHCE CFHR3 RPS27 RHD RPS26 HK1 RPL11 NHLRC2 RHAG MYSM1 CDIN1 CPOX RPS20 ADAMTS13 RPL5 CLCN7 RPL31 IFNG HBB FANCE RPS29 PRKCD RPS10 RPS17 RPS24 MTTP RPL26 AMN KCNN4 TERC FASLG TERT PIGA HP_DECREASED_CIRCULATING_ANTIBODY_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_ANTIBODY_LEVEL TNFRSF13B RNU4ATAC SH3KBP1 CD19 STX1A KNSTRN RAG2 NFKB2 DNMT3B CTLA4 SPINK5 RAG1 IKBKG HELLS ATP6AP1 SLC25A13 ICOS TNFRSF11A CD79A CD81 IVNS1ABP TGFB1 IL2RG FAS ITCH RFXANK CISD2 NFE2L2 CXCR4 PIK3R1 UNG PTEN EXTL3 CD247 STXBP2 RNF168 RFXAP SLC46A1 ZEB2 TRNT1 IRF2BP2 LAT BACH2 MGAT2 CD70 RFX5 SYK RNF113A TNFRSF13C SLC6A14 STAT3 BLM CFTR CIITA JAK3 MYSM1 PIK3CD CDCA7 ZAP70 MIF ATM STX11 CTPS1 GCLC EPG5 IL21 SON CD79B B2M SLC26A9 CARMIL2 MS4A1 ERCC3 LRRC8A WAS ADAMTS3 AK2 ERCC2 MTOR CEACAM3 ADA2 CD3E COG6 TNFSF12 BTK CR2 SLC7A7 TTC37 TP53 KCNN4 ITK ALG12 MTHFD1 CASP8 RBM8A CD40LG ADA PRKCD GTF2H5 DCLRE1C DCTN4 SP110 NFKB1 PLVAP EDNRA SLC5A6 XIAP CEACAM6 HFE HLA-DQB1 RASGRP1 SLC35C1 SAMD9L SERPINA1 IKBKB TCN2 SH2D1A MAGT1 IGLL1 TIMM8A CNBP FAT4 MPLKIP RMRP UNC13D IKZF1 GSTM3 ZBTB24 TFRC PIGT CASP10 NHEJ1 KRT5 PRF1 MAN2B1 BCL10 CARD11 CD27 CAVIN1 FLNA TARS1 TCF3 HMOX1 CD55 IL21R RTEL1 PLCG2 AICDA MOGS IGHM SKIV2L RIPK1 KRT14 BLNK CCBE1 RAC2 VPS33A CLCA4 NBN CCND1 GTF2E2 HYOU1 LRBA TONSL SLC11A1 IL6R SLC9A3 ATP6AP2 CD40 PMM2 HLA-DQA1 LAMTOR2 MSN FASLG CD3D CSNK2A1 IL2RA HP_DECREASED_CIRCULATING_IGG_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_IGG_LEVEL PIK3CD TNFRSF13B CD19 RASGRP1 CTPS1 KNSTRN RAG2 TCN2 SH2D1A RAC2 VPS33A EPG5 IL21 TNFRSF13C SON CTLA4 CNBP RAG1 CD247 IL2RG ERCC2 B2M ATP6AP1 LRBA MS4A1 TNFRSF11A CASP10 IVNS1ABP FAS SPINK5 MOGS EXTL3 IL6R ICOS PRKCD CD3E CXCR4 DCLRE1C UNG CD40 PMM2 RNF168 CR2 NFKB2 IRF2BP2 SP110 BLM FASLG ITK BACH2 MGAT2 CD3D CD81 CSNK2A1 SYK CASP8 XIAP CD40LG ADA JAK3 ATM TONSL AICDA SLC5A6 HP_DECREASED_CIRCULATING_ALDOSTERONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_ALDOSTERONE_LEVEL CYP11B2 CYP11A1 HSD3B2 CYP17A1 NR0B1 MC2R MRAP HSD11B2 NR3C1 STAR NR3C2 AIRE AAAS SCNN1B NNT CYP11B1 TXNRD2 HP_VAGINAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VAGINAL_FISTULA DYNC2I1 SPINT2 SALL4 POLR1C MKKS LONP1 TCOF1 POLR1D CAPN15 IFT80 SALL1 FREM1 CCNQ KIF7 SLC35A2 POR POLR1B DYNC2I2 WDR35 DDB1 UBR1 IL10RB DACT1 TCTN3 MNX1 RECQL4 DYNC2H1 JAK3 HP_INCREASED_BODY_WEIGHT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_BODY_WEIGHT SHOX SH3KBP1 PROM1 GTF2I HDAC8 SATB1 PIGA ARNT2 PCARE HERC2 SEMA3A EIF2S3 BBS1 ARL6 RTL1 BLK MAN1B1 STX16 TMEM67 INPP5E RAB23 GNAS HNF1A KCNJ11 TP53 ANOS1 DDB1 MMP23B OFD1 SPG11 MOG AP4S1 UCP2 SH2B1 EDNRB SLC9A7 TUB IDH3B SPTBN1 SPEN FRMPD4 DLK1 POMC PTCHD1 SIN3A PIK3CA ARX BBS12 NIN FGF8 MECP2 POU1F1 NDN INS SDCCAG8 TBL2 SHANK3 KIAA1549 BRAF IDH3A EP300 SAG RGR BBS10 SNRPN GABRA3 PDGFB PRPF31 PHKG2 TACR3 PROKR2 CCDC141 CRX MIA3 BBS9 DIS3L2 AIP USP7 PPARG RERE PRKCZ PRPH2 BAP1 IMPG2 TOPORS DYNC2I2 GUCA1B SYP PDX1 DLG3 WNT4 LHX3 BBS4 SCAPER PAX6 ALMS1 IFT88 CEP290 MEG3 PROK2 ADNP PHIP EHMT1 CFAP418 MAPK8IP3 MTOR CFH SLC7A7 NCF1 REEP6 MEGF8 SPATA7 PHF6 CNGB1 GNAS-AS1 ARHGEF18 TAF1 DNAJC30 SEMA4A SOX3 CARTPT HDAC4 HESX1 BBIP1 BCL7B DMD MTMR14 TNFSF4 SETD1A CNNM2 IQSEC2 ACSL4 ZNF711 RAD21 ROM1 CNKSR2 SEC24C MID2 HNF4A LZTFL1 PDE4D MKS1 COMT UBE3A ARL3 ATRX JMJD1C MC4R ALB PTCH1 RAB39B PHKA2 EGF IGFALS YY1 AKT2 GDI1 SHOC2 USH2A ELN MAGEL2 SDC3 LMNA RPS6KA3 PDE6G KMT2D ALG13 EIF4H OCA2 CEL CRB1 MKKS VPS13B GLI3 KIDINS220 FLRT3 TULP1 MAK SOS1 USP27X CTNNB1 ABCC9 SOX2 AFF4 HERC1 UBE4B BBS2 CNGA1 BPTF FSCN2 BRD4 APOE CANT1 BUD23 DHX38 CEP19 ARL13B RAI1 HIRA KLHL7 SNORD116-1 CPE NTRK2 MED12 CLDN3 PRKAR1A DYRK1B SMO CREBBP CYP7A1 TBX1 ODC1 IGF1R AP4B1 SIM1 HSPG2 KIZ TBX3 TTC8 RLBP1 RPE65 XRCC4 MYT1L PWRN1 UPF3B SLC25A4 ERMARD GHRL USP9X MKRN3 PRPF6 PWAR1 HCRT HLA-DRB1 CLCN4 KDM6A RDH12 PRPF4 ENPP1 ARVCF AP4M1 ATP10A GCK SRY FEZF1 CFI RP2 COPB1 RBP3 BBS5 FAM161A RREB1 CDH23 TMEM270 TRIM32 GHR POMGNT1 PDPN SPRY4 PHF21A RAF1 RBMX LEPR KMT2C FIBP THOC2 ABCC8 PDSS1 ARMC5 HS6ST1 WT1 CA4 ATP6AP2 PNKP GTF2IRD1 ARL2BP DEAF1 KCNJ18 BBS7 RNPC3 MEN1 FLII GATA4 PDE6A ZNF365 ZNF41 TRIP12 MRAP2 LEP EXOC6B IFT27 NPHP1 AKT1 ZNF81 EYS PTEN MTTP FXR1 CTSH PRPF3 LHX4 DHDDS HELLPAR AP4E1 AGTR2 CCDC28B TMEM43 UBE2A PRCD IMPDH1 FGFR1 RNF135 FTSJ1 PAK3 TRIP4 CHD7 H6PD RPGR FTO ANK3 MCM3AP METTL27 MYF6 NIPBL TCF20 NR2E3 SOX10 XYLT1 PDE6B COL10A1 IFT74 TRAPPC9 RHO LIPE CUL4B USP8 DUSP6 LARS2 ADRB3 PROP1 ZBTB20 FGF17 TMCO1 P4HTM SLC10A7 PKDCC PCNT PAX4 UCP3 TOGARAM1 RP9 LUZP1 ADCY3 TRAF7 ATP7B CACNA1S SYNE2 RFC2 ZNF408 SUFU RP1 PIGL CERKL FOXP1 HSD11B1 AGBL5 IFT172 FMR1 P2RY11 PRMT7 PSMD12 DDX6 POGZ NR0B2 SLC7A14 ABCA4 ZPR1 SMAD4 ARHGEF6 CLIP2 BIN1 ABHD11 LRAT MTFMT SMARCB1 PDE11A AGRP ACADVL IL17RD PIGT SYNE1 TRAF3IP1 WAC BDNF DCC HLA-DQB1 THRA LAT2 STX1A KCNAB2 NEUROD1 PRPF8 HGSNAT WDPCP NRL IFT140 ABCB4 NF2 AHI1 SMARCE1 DNMT3A MLXIPL PRKACA LAS1L CYP19A1 TSPAN7 NKAP CDHR1 DPYD SETD2 BEST1 ZNF513 LIMK1 SKI BAZ1B COA3 KLF11 STEEP1 TERT NDNF OTX2 RYR1 APPL1 HACE1 MERTK DNM2 UFD1 CLRN1 SNRNP200 IL1RAPL1 WDR11 NEK2 CASZ1 AHR PRDM16 UNC45B SMC3 ADRB2 FHL1 IGF1 SMC1A GTF2IRD2 GP1BB RP1L1 TRHR IGSF1 POU3F4 FKBP6 CHD8 CLDN4 NPAP1 BLM VPS37D PNPLA6 PCSK1 HCFC1 FGFR3 CEP164 MC3R GABRD SNORD115-1 EMD PIGN RIT1 CD46 HP_CACHEXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CACHEXIA TRIM37 ERCC3 RRM2B AKT1 ERCC5 GALC TRAIP PCNT NALCN HSPG2 CALR CNTNAP1 MAFB RBBP8 PTEN MPL SLC9A6 ATRIP UNC80 NDP WT1 SIGMAR1 SLC6A8 ALS2 ATR ERCC4 TET2 GBA FOXP3 POLG CENPJ SCNN1G SCNN1B BMPR1A TYMP ERCC2 NBN ACADM TRPV4 EWSR1 CEP152 JAK2 SUCLA2 CENPE LIPA CFTR MECP2 PLK4 PSAP TGFB1 SPG11 LPIN2 STUB1 FUS SCNN1A LMNA CUL4B HP_ABNORMAL_VITREOUS_HUMOR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VITREOUS_HUMOR_MORPHOLOGY RB1 COL9A1 COL11A1 SF3B1 NDP COL2A1 FZD4 ARL3 ZNF408 ERBB3 CTNNB1 BAP1 LRP5 RS1 CAPN5 HCCS P3H2 TTR PROC LOXL3 GNA11 NF2 BEST1 COL18A1 PAX6 CYSLTR2 HLA-A TSPAN12 BCOR ATOH7 GNAQ NDUFB11 NR2E3 COL9A2 CRPPA COX7B COL9A3 CRB1 VCAN KCNJ13 HP_ABNORMAL_ANTERIOR_EYE_SEGMENT_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ANTERIOR_EYE_SEGMENT_MORPHOLOGY SDHD COL1A1 CCDC32 NF1 NRAS COLEC10 BUB1B NTRK1 ALX3 MAFA ERCC8 MT-CO2 ADGRV1 INPP5E TAPBP KANSL1 ABHD5 LAMB3 NDP MT-TK GORAB RERE WDFY3 MBTPS2 SMAD4 MRPS28 MITF ARSL TUB CEP41 HMX1 ANKRD11 SPEN XYLT2 KRAS STX16 RPE65 ZEB2 TUBG1 GJB2 SIN3A PEX12 IFT140 FLNB FAM111A VLDLR SAMHD1 COG4 ITPR1 ADAMTS10 KCNMA1 BCS1L IDH3A SAG TWNK CHST14 MYLK MIR140 SREBF1 TMEM70 SNRPN NGLY1 ZNF408 HUWE1 PIGN FIG4 TGFBI COL11A1 CACNA1F VSX2 CDON PRKCZ TOPORS PEX6 PARN GUCA1B ALDH18A1 PEX5 BBS2 SALL4 ARCN1 TYR FZD4 BTRC GMPPB VAC14 IFT88 MYO5A ARSB PEX7 EHMT1 ERCC2 PQBP1 GLIS3 CA8 LMNA RPS29 RPS10 PTCH1 NCF1 TMEM237 CREBBP B9D1 SUFU MT-TE EDN3 UROD KRT12 RRM2B ERAP1 PAX6 AEBP1 B3GALT6 MT-TC ALOXE3 RPS24 B4GAT1 CHN1 CHUK JARID2 TBL1XR1 SLC2A1 ARL3 AHI1 MAPRE2 ZMIZ1 NEU1 SLC2A10 C12orf57 POMT1 FBXL4 WDR35 DMPK PGAP2 MT-TF KIAA1109 MAX SHOC2 GBA ELN SLC38A8 PDE6G SOX10 EIF4H COL4A1 ABCA12 B3GALNT2 KIFBP MAGEL2 OTX2 SLC33A1 B9D2 CRPPA CDH11 EPHA2 LYST AASS DNM1L MED27 TULP1 IDUA BRD4 APOE DHX38 LEMD2 MKS1 FBN1 OPA1 HIRA AFF4 GLI2 B4GALNT1 DACT1 CLDN3 CEP290 TBX1 SETD5 ATP6V1A TMEM216 CLDN11 FAR1 FGFR2 IL10 HSPG2 DLL4 KRT3 TCF4 FERMT1 CC2D2A FKTN NAA10 CLPB TUBGCP6 DISP1 SLC25A4 LRP5 KCNN3 TSPAN12 ERCC5 NDN PWAR1 CHST6 ARHGEF2 NOTCH1 POLR1C FGF10 MTTP FOXC1 CRYGD GBA2 RHO VPS13B RBP3 CTSA CDH23 TMEM270 RXYLT1 SATB1 RP2 NMNAT1 RAD51C RPS28 TRAPPC11 CERS3 HERC2 KIF11 BUB3 LCAT CA4 BEST1 ALDH3A2 PTEN USP45 RPL18 TAP1 SDCCAG8 OVOL2 AGBL1 SLC25A13 RAB3GAP2 BCOR TCTN3 VHL GUCY2D ESS2 LPAR6 IL2RA CNBP OPA3 C4A IDS GLA ZIC2 ATOH7 TCOF1 SLX4 ALX1 GNPTG TMEM127 DSG4 CNGB3 FLVCR1 HNRNPDL KMT2B LRAT BMP4 ADAMTS18 SNAI2 COL2A1 IMPDH1 CEP104 MASP1 MC1R MAG RPGR EED RNF113A METTL27 CBS FTL ARID1B PIGL CLDN19 SEC23A COL17A1 SH3TC2 PPP1R12A HS2ST1 MAP3K7 TRIM44 UBE3B PUS7 PAH COLEC11 GNA11 LTBP2 P4HTM NACC1 PLOD1 MPZ SLC39A4 CRB1 XPA GCNT2 PITX3 TFAP2A GJA1 RLIM MMP1 IKBKG RFC2 AP3B1 TRIM37 PIGW AIRE SCAPER AAAS VCP UBE2T B3GLCT USP8 OCA2 DDB2 DLX5 GTF2H5 ALG3 PEX3 OSMR DDX6 PIGG FAM126A TGFBR2 KCNJ13 KIT SLC35C1 PRUNE1 HLA-B CLIP2 MYOC AP3D1 EBP EYS SCUBE3 FGFR1 PIGT LETM1 PIEZO2 KRT86 PHGDH SLC4A11 BDNF ABCA2 DST PEX26 TRIP12 HGSNAT MOCS2 COQ2 RPS19 NFIX GALK1 CPLANE1 FANCL TGFBR1 KATNIP POMT2 ERCC6 PLCG2 POLH PIGY EPCAM RPL11 CTNS TMEM67 CLTCL1 TP63 DPYSL5 BAP1 KERA ATAD3A PRKG1 CTNNB1 TINF2 PAX2 WIPF1 DCN TYRP1 CRYBB2 FBN2 SMC3 GALNT2 WT1 REST RALGAPA1 FGF8 SMC1A GP1BB ESCO2 SMAD3 GNAQ RETREG1 COL7A1 SIPA1L3 CTDP1 LZTR1 MT-TS2 PHOX2B PLOD3 NPHP1 TACSTD2 FANCD2 KDSR LARGE1 GFER SLC25A24 PROM1 KMT2E GTF2I WRN ATP7B INTS1 ARL6 AMMECR1 TERT MIPEP EXOSC2 COL4A3 GPR143 DNAJC21 CCR1 MED25 UROC1 ZNF469 SLC20A2 IDH3B TGFB2 SPTBN1 ARL2 LSS CRYAA RAB18 IMPG2 COX7B WFS1 NUP188 MPV17 GNPAT COL4A4 LBR RFWD3 ZNF423 RGR COL9A1 GNAS PRPF31 OTUD5 CRX TUBB GUSB BPTF PEX16 PTPN23 MT-TL1 RPS20 SLC45A2 GLRB DKC1 IGBP1 PDZD7 ADNP MT-TW STAT4 RPGRIP1L TGM1 REEP6 HPDL CEP120 HCCS NODAL COL4A5 COL3A1 DNAJC30 MAB21L2 SALL1 BCORL1 SUMF1 TAT CDH2 PEX2 PSMD12 ELP4 CHD7 PNPT1 ANTXR1 AGO2 TXNDC15 SEC24C SHH PXDN SOX2 RPL27 POLR1D KIAA0586 ANAPC1 CRYBA4 GJB4 NR2E3 ERCC1 DYRK1A WASF1 TMTC3 MIR204 GALM MYH11 SOS1 PSMC3 FANCA ACTA2 DPAGT1 RNF13 DHCR7 FKRP UBE4B NF2 HLCS MAP2K2 DAG1 MIR184 PTPN22 PIBF1 SCARF2 TCF20 KRT25 SCN9A ETFDH ARL6IP6 ST14 MYSM1 MMP14 KAT8 LRP2 INVS AP1S1 TDRD7 P3H2 UBE3A CYP4V2 GTF2E2 WNT3 TKFC SEM1 PRPF6 WDR19 FANCF CSPP1 RDH12 TBC1D20 WAC TBR1 TBC1D24 ARVCF KCNH1 ATP10A FGD1 POMGNT1 DLL1 SDHAF2 TRAPPC4 HPS6 MMP2 CLRN1 STS MADD FOXL2 LONP1 MAFB RBPJ GTF2IRD1 SIX3 NTNG1 FLII C1QBP TAP2 MEFV ELMO2 RPL35 TERC LAMB1 TENM3 RPL35A LAMB2 LMX1B RAB3GAP1 POMK DYNC2I1 TGFB3 FOXE3 PRPF3 TRAPPC2 SLC12A2 NDUFB11 CCDC28B LDHD NLRP1 EPHX2 MYO7A ACTG1 PITX2 TBC1D7 DYNC2I2 PSAT1 ETFA ABCA1 XRCC2 TBX2 HSF4 RP9 ITPA MYMK MT-ND5 LCA5 CYP1B1 GATA1 NOP10 DLST ADAMTSL4 ALDH6A1 HK1 IL12A-AS1 MED13L DSE MT-TQ YY1 GALT FANCC MLPH DTNBP1 MFAP5 APC BBIP1 LAMA3 GJB6 EDNRB PRPH2 AGBL5 SALL2 LRP4 POGZ COL8A2 WHRN SLC7A14 MAD2L2 RB1 RAB23 PEX19 AP1B1 LIFR ALOX12B SEMA3E RDH11 SERPING1 MARK3 ESPN DLX6 CLDN16 CRYBB3 FAM50A PEX1 TBX22 CLN3 APOB FLNA LAT2 PHYH GNPTAB NRL WNK1 RPS7 DGCR6 CDHR1 DPYD ALG11 LIMK1 KCNA4 PRDM5 ARHGAP31 CEP164 C1QTNF5 CHD3 RNF2 SPATA7 LIG4 ZEB1 BBS9 PPP1R17 USB1 MAF FLI1 H19 MSH6 KIAA1549 CD247 MYH9 NPAP1 FANCG PNPLA1 IARS2 OPN1MW PIKFYVE MT-CYB COL9A3 UBIAD1 CRYGC GPC3 BRIP1 FANCB GABRD BRCA2 GMPPA SMO MT-CO3 SNORD115-1 FANCM PALB2 TONSL SF3B1 ARL2BP PCARE AGK NHS TRPV4 MT-TV VIM OFD1 PPP2R5D HPS1 CENPF FAS GJA3 AGA NIPAL4 IFIH1 RS1 AKT1 CEP78 POLG2 ZFHX2 SC5D PLXND1 JAM3 RPS27 DYNC2H1 SLC24A5 ERCC4 TCTN1 SDHC IL2RB CTBP1 RBP4 ACTB LOXL3 KRT83 POLG IQCB1 STXBP1 RET CTCF MTAP LAMC2 NOD2 MEGF8 PIK3C2A MIP XPR1 POU6F2 KCNV2 FKBP14 UBE2A BCL7B MFRP ROM1 MDH2 NEUROD2 RECQL4 B3GAT3 BUB1 COMT COL5A1 IL23R ALG2 SUOX MPLKIP PTCH2 CYP27A1 CHSY1 SIL1 USH2A TRPV3 GHR ZNF335 KIDINS220 TRIP13 INPP5K PACS2 JAG1 SVBP TANC2 TEK CNGA1 COL9A2 FH POLR1B FSCN2 KIF1B TARS1 PTH BUD23 FGF5 HRAS KAT6A RPGRIP1 HHAT SNORD116-1 PSMB8 MT-TS1 KRT74 SLC39A8 PMM2 IGF1R CRYBB1 KIZ POLR3GL RLBP1 PEX11B AMER1 PWRN1 KDM5B TGM3 ETFB SLC4A4 MAB21L1 MKRN3 DOCK3 ATP8A2 TBCE CPT2 BFSP1 CFAP418 GDF3 XPC EPS15L1 FAM111B PAX3 DNAI1 RAB27A VSX1 TWIST2 EDEM3 BRCA1 STIM1 PDPN CFAP410 KMT2C HMGB3 CRYGS UBAC2 ARMC9 DEAF1 PDGFRB OCLN EMC1 APOA2 NOTCH2 PPP2CA YAP1 TELO2 CHST3 NELFA IFT80 PLEC BLOC1S3 PRCD LOXL1 FOXC2 FGFR3 TGIF1 MAPK1 TLR4 GJB3 PEX14 SPRTN ERCC3 VPS4A ZBTB20 EPG5 NAGA LOX AIPL1 MVK DOCK6 GSN COL18A1 SH3PXD2B LUZP1 RPS26 ACTL6A MAPK8IP3 ELP1 ANK1 FUCA1 IKZF1 PIGQ RAD51 ARSG PDE4D USF3 PEX13 CRYGB DCT TMEM107 RNASEH2C SMARCAL1 DGUOK WAS FANCE ABHD11 ADAMTS17 ALG8 RNASEH2A DGCR2 NSD1 IFT172 PCDH15 RAX HLA-A OAT FANCI VARS1 STX1A PRPF8 DDR2 BTNL2 LIPH GZF1 RIPK4 IL6ST NEK9 IQSEC2 UBA5 BLOC1S6 MT-ND1 SMAD2 FGF3 SDHB ALMS1 IL12A UFD1 MED13 SNRNP200 NEK2 AHR MAT2A HPS5 WRAP53 UROS GJA8 GTF2IRD2 PCYT1A DNMT1 RP1L1 SDHA RNF125 TMEM231 CHD4 VPS37D BRF1 CRYAB MCOLN1 KCTD1 USH1G TWIST1 CAV1 PTH1R BFSP2 HDAC8 ERF ADA2 PRDM12 CPAMD8 ANKRD55 PEX10 MMP23B RSPO2 GEMIN4 SMCHD1 NHP2 WDR81 RTN4IP1 GALNS MAN2B1 APOA1 TRIM28 PRKAR1A PYCR1 WDR37 OCRL GRIA4 ARL13B MECP2 ACTL6B TBL2 HEY2 EP300 NPHP4 CBY1 KLLN RNU4ATAC TBX15 UBR7 PORCN BBS1 CYP7B1 COL1A2 FOXH1 TRAF3IP1 POMGNT2 SRD5A3 FGFRL1 HLA-DRB1 CPLX1 MED12L SPINT2 PHF6 RPL26 CNGB1 PUF60 ARHGEF18 SEMA4A KDM4B SRCAP KRT71 COL5A2 PDE6A MPDZ ENTPD1 ADAR PCSK9 POLA1 ITM2B VCAN JAM2 SHROOM4 RAD21 ANO10 BRCC3 CHRDL1 TMEM138 JMJD1C MYO1H TCTN2 PDGFB SLC29A3 CYSLTR2 TREX1 NIPBL KMT2D MAK SEC31A ATP6V1B2 NSUN2 RPL15 SETD2 CASK STIL CANT1 CCDC22 CNOT3 KLHL7 NLRP3 LIM2 ADAMTSL1 WNT10B PIK3R1 HNRNPA1 KRT14 SOS2 TTC8 GNB5 GRHL2 TBCK XRCC4 RPL31 MYORG USP9X IMPG1 KDM6A PRPF4 LDLR SLC40A1 TDGF1 CTC1 SRY SLC25A11 COPB1 FAM161A RREB1 PMP22 REV3L TRMT1 RPS6KA3 WASHC5 BLOC1S5 RPS17 FBXW11 GSR NSD2 TENT5A MYT1L RPS15A WDR73 EOGT RAI1 PTPN2 CRYBA2 KLRC4 GDF6 HYLS1 PIGV DHDDS SLC16A12 TSR2 APC2 MBD5 HPS4 GATAD2B ROR1 DGCR8 PDE6B CRYBA1 CHMP4B PIK3CA PRSS56 GLB1 MORC2 CHMP1A MT-ND6 USH1C RPL5 PLCB3 RNASEH2B RHOA ZMPSTE24 FYCO1 COL4A6 ASPH TKT ALDOB KIF1A RP1 MOCS1 RD3 NPM1 CERKL GTPBP2 NPHP3 GAS1 PGAP3 MT-CO1 PALS1 ABCA4 KDELR2 UNC45B AMACR KRT5 PRMT7 FUT8 NCAPG2 KCNAB2 PNPLA6 MSMO1 MLXIPL KITLG HTRA2 ZNF513 HNRNPA2B1 TUBB2B HARS1 SKI FRAS1 BAZ1B ABHD12 SIX6 KRT81 FDXR NR2F1 POLR3A PIGO MERTK EBF3 SEC23B RTEL1 CEP57 FIBP CASZ1 H1-4 LIPC PRDM16 NTNG2 NOTCH3 PLK4 RDH5 OPN1LW CIB2 TEAD1 FKBP6 CRLF1 CLDN4 DIS3L2 HTT TNRC6B ASAH1 SMG8 RIC1 HP_INCREASED_SKULL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SKULL_OSSIFICATION NAGLU OSTM1 VCP SGSH HGSNAT HHAT HP_ABNORMAL_LYMPHOCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LYMPHOCYTE_MORPHOLOGY NRAS RAG1 CD19 FCHO1 GFI1 STK4 KNSTRN RAG2 TNFRSF13B NFKB2 DNMT3B CTLA4 KRAS CD3D CD3E HELLS KLHDC8B ICOS CD81 CD3G ZAP70 TNFAIP3 FOXP3 LEP IVNS1ABP PTPRC IL2RG FAS LEPR RFXANK OTULIN DCLRE1C STAT4 PGM3 PIK3R1 PTEN EXTL3 CD8A CD247 TET2 RFXAP ADA SGPL1 GLB1 TPP2 AGA TRNT1 IRF2BP2 IL7R RAC2 TERC LAT BACH2 TFR2 RRAS2 MGAT2 CD70 SYK MCM4 MYD88 CD4 JAK3 CHD7 PIK3CD FOXN1 STING1 SRP54 TBX2 CDCA7 ATM CYBC1 CTPS1 TTI2 NLRC4 EPG5 IL21 DOCK2 PNP CIITA TNFRSF1B UNC119 LCK IKZF3 WDR1 WAS ADAMTS3 ARPC1B ADA2 HLA-DRB1 CORO1A CD28 TNFSF12 AP3B1 FASLG TTC37 PSMB4 RFX5 ITK RNASEH2B MTHFD1 TCIRG1 CASP8 PRKCD AK2 SP110 NFKB1 CASP10 LCP2 RASGRP1 SOCS1 EIF2AK3 LMNB2 GATA2 NEU1 SEMA3E TCN2 SH2D1A MAGT1 SMARCAL1 FAT4 IKZF1 STAT1 FUCA1 SLC17A5 MCM10 ZBTB24 ELANE HLA-DPB1 NHEJ1 CLN3 MAN2B1 CR2 WIPF1 BTNL2 DOCK8 SAMD9 BCL10 TINF2 IRAK1 PSMB9 CARD11 TCF3 IKBKB BTK NCKAP1L SPP1 MDM4 IGHM SKIV2L MYSM1 RIPK1 CCBE1 LYST BCL11B NBN PNPLA2 XRCC4 LRBA ACP5 TNFRSF13C ALG12 MS4A1 IL6R ATP6AP2 MYC MSN BLM FCGR3A LIG4 NSMCE3 RMRP XIAP G6PC3 CXCR4 IL7 IL2RA TERT HP_BONE_MARROW_FOAM_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BONE_MARROW_FOAM_CELLS NPC1 SMPD1 LIPA NEU1 NPC2 HP_DERMAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DERMAL_ATROPHY PLEC C1R RECQL4 COL1A1 ENPP1 ERCC5 LAMB3 B3GALT6 MGP LEMD3 COL12A1 COL5A1 HCCS ACD ZMPSTE24 SPEN LAMA3 DKC1 COL5A2 COL7A1 TP53 PDE11A SOX18 ERCC4 RTEL1 COL17A1 C1S FBN1 COL1A2 ITGA6 COL3A1 AEBP1 POLD1 KRT5 TERT ERCC2 SMAD3 NDUFB11 TINF2 TERC PARN PORCN FERMT1 B4GALT7 PDE8B KLHL24 TGFBR1 DDB2 TWIST2 TGFB2 SLC39A13 POLH ERCC3 KRT14 LAMC2 USP8 ITGB4 AIP DHCR24 MMP1 ADA2 CARMIL2 PLOD1 TGFBR2 ABCC6 XPA ERCC6 TFAP2A GNAS LMNA COL6A3 DSE TP63 LRP1 DST PRKAR1A XPC ANAPC1 GSN CHST14 CTSC COPB1 COX7B PRKACA DLG4 FKBP14 COL6A2 CUL4B COL6A1 HP_ABNORMALITY_OF_AMINO_ACID_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_AMINO_ACID_METABOLISM ERCC3 ERCC2 AGA ERCC5 SLC30A10 TAT CBS ERCC4 HP_ABNORMAL_CIRCULATING_AROMATIC_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_AROMATIC_AMINO_ACID_CONCENTRATION FAH PCBD1 PTS SLC25A13 HPD GCH1 PNPO FTCD PAH QDPR KYNU SPR TAT HP_ABNORMAL_CIRCULATING_SULFUR_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_SULFUR_AMINO_ACID_CONCENTRATION MTRR LMBRD1 FAH ABCD4 PRDX1 SLC25A13 MMACHC AHCY SLC19A1 MTHFR CBS GNMT TTC37 MTR AASS MMADHC MAT1A ADK HP_ABNORMALITY_OF_VITAMIN_B_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VITAMIN_B_METABOLISM PRKCD LMBRD1 AMN ABCD4 MCEE OTUD5 FTCD HLA-DQB1 HLA-DQA1 RNF13 MMAA SLC19A1 DLAT TTR CBLIF RASGRP1 FASLG HCFC1 MMACHC MMAB MMADHC CCND1 SUCLG1 ABCD1 PRDX1 ACSF3 SLC52A1 MMUT FAS CUBN ZNF699 MTHFD1 GUCY2C GRM7 CASP10 MTRR ALDH4A1 SUCLA2 MTR SIM1 SPTBN1 HP_ABNORMALITY_OF_VITAMIN_B12_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VITAMIN_B12_METABOLISM PRKCD LMBRD1 AMN ABCD4 MCEE HLA-DQB1 HLA-DQA1 RNF13 MMAA SLC19A1 CBLIF RASGRP1 FASLG HCFC1 MMACHC MMAB MMADHC CCND1 SUCLG1 ABCD1 PRDX1 ACSF3 MMUT FAS CUBN MTHFD1 GUCY2C GRM7 CASP10 MTRR SUCLA2 MTR HP_WEAKNESS_OF_MUSCLES_OF_RESPIRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEAKNESS_OF_MUSCLES_OF_RESPIRATION TPM2 CPOX NEB LAMA2 MYL1 MT-TN ORAI1 SLC18A3 TPM3 GAA CHRNA1 LMOD3 DOK7 ASAH1 BIN1 KCNJ18 COA8 DMPK DYM SCN4A MPZ MYOT TRIP4 SNAP25 CHAT LMNA POMK SYNE1 TK2 TTN SELENON PAX7 HMBS MYL2 ALAD SPG11 MATR3 RRM2B COL6A2 AGRN MFN2 ACTA1 CHRNE DES TMEM43 MYO9A RYR1 UBA1 GIPC1 MYF6 MT-TL1 HNRNPA2B1 CACNA1S TNPO3 COL6A1 MGME1 HNRNPA1 GABRA3 HACD1 AIFM1 MYH7 ERBB4 MORC2 CRYAB PLEKHG5 MYPN DNM2 CCDC174 ERGIC1 KBTBD13 VAMP1 COLQ FHL1 MT-TS1 SLC25A4 COL13A1 GFPT1 RNASEH1 COL6A3 CFL2 SURF1 BICD2 TARDBP POLG ACOX1 GLE1 YARS2 SYNE2 TNNT1 COL12A1 VCP KCNE3 PPOX CNTN1 SYT2 MAP3K20 TPI1 SLC25A1 KLHL41 SLC5A7 MTMR14 SUCLA2 EMD MT-TL2 LRP12 ITGA7 HP_ABNORMALITY_OF_BONE_MINERAL_DENSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_BONE_MINERAL_DENSITY ATP7A TRPS1 COL1A1 NRAS LEMD3 TENT5A FAT4 HERC2 SEMA3A CLCN5 HPGD TRIP11 TGFB1 TRMT10A DDRGK1 AGXT CDKN2B KISS1 GNAS LAMB3 PLEKHM1 GORAB ANOS1 CBL STN1 DHCR24 ANKH IER3IP1 BRAF TNFRSF11B XYLT2 ITGB4 STX16 BAAT CTSK EXT2 FAM111A POLG2 HGD SC5D FGF8 ASXL2 ERCC4 CRTAP SLC34A1 MIR140 NGLY1 CREB3L1 PHKG2 SRP54 CTBP1 NOTCH3 TACR3 CYP27B1 TREM2 PARN STAT6 NDN SIK3 CDH23 RSPRY1 ATP6V0A4 FZD4 NAGA ZNF699 CTCF MEG3 PROK2 MTAP LRP4 STAT3 ERCC2 LAMC2 PHEX CALCR GLIS3 LMNA SLC7A7 NCF1 FGF17 POLE PCCA CYP3A4 ALPL UROD HNRNPK RRM2B SETBP1 AEBP1 SNRPN FKBP14 TNFRSF11A MAP2K1 FLNA BCL7B RECQL4 HNF4A CYP11A1 B3GAT3 NOP10 DCHS1 BRCA2 COG1 MPLKIP FAH CYP27A1 HSD17B4 CDKN1B IL1RN ELN ADAMTS2 MAGEL2 TBCE TCIRG1 EIF4H ALDH18A1 SPRY4 FLRT3 CASR SLC34A3 TINF2 MMP13 CA2 TMEM38B POLR1B FGFR1 TARS1 BUD23 PDE8B RUNX2 OSTM1 SNORD116-1 LPIN2 SLC39A13 CLDN3 SLC39A8 CEP290 IGF1 MDM4 PMM2 PTDSS1 LHX4 IQCB1 FANCB FGFR2 NPR2 GATM PHGDH CCND1 GCM2 HBB CDC73 CLCN7 SOX9 SMPD1 AMER1 TMEM165 PWRN1 VDR IRF5 SATB2 LRP5 SPIDR DUSP6 MKRN3 PWAR1 P3H1 POLR1C CDKN2C PLOD2 MTTP PRKAR1A MAP3K1 UNC45A SEC24D CDKN1A COL1A2 ADCY10 G6PC1 BRCA1 TMEM270 DMP1 SLC29A3 ASXL1 RAD51C SIM1 GATA4 RPL10 ZNF408 HS6ST1 KCNJ1 TRAPPC2 STX3 SLCO2A1 KIT SDCCAG8 ENPP1 SERPINH1 AKR1D1 NFIX WNT1 PROKR2 FKBP10 TCOF1 SLX4 ATP6V0A2 CHST3 NELFA SQSTM1 TNFSF11 AIP POF1B GBA SBDS IFT43 CYP2R1 MGAT2 B4GALT7 PTH1R ERCC8 KISS1R EED TMEM67 RNF113A METTL27 CBS MAFB PEPD VAMP7 SOX10 GLA ATP8B1 FARSB MEN1 HECW2 MAP3K7 SLC34A2 ZBTB20 SEC23A BMS1 CYB5A PLOD1 TNFSF15 ERCC3 PRLR SLC37A4 PAPPA2 SH3PXD2B WDR19 MMP1 OCA2 PYGL DNAJC21 RFC2 SLC4A1 UBE2T TAF1 EBP USP8 GALT RAD51 IFT122 FN1 ALG3 HRAS NOTCH2 SCARB2 NR5A1 PIGG PROP1 SLC2A2 MC4R DLX3 CLIP2 SMARCAL1 TNPO3 FANCE ABHD11 PDE11A PIGT NHP2 PEX12 IFIH1 DCC POLD1 NLRP3 FANCI MBTPS2 STX1A MITF BMP2 IL12RB1 DLL4 COL5A1 ESR1 FANCL GZF1 PDLIM4 CYP17A1 KRAS MMP14 PIGY ABCC9 NDNF RIN2 GNPTAB CTNNB1 GLI2 KDELR2 WDR11 FBN2 SNX10 WRAP53 UROS ANO5 PCCB SP7 AP2S1 TAPT1 SGSH GTF2IRD2 TGFBR2 ESR2 SOST HSPG2 KL SKI ARMC5 RNF125 ERCC6 POU2AF1 COL7A1 ANAPC1 VPS37D ELANE CTDP1 PRKACA PLOD3 SPIB FANCD2 PDGFRB WDR35 GNRH1 HMGA2 GTF2I B3GALT6 IARS2 KCNJ8 LRP6 FBN1 SLC12A1 WRN ATP7B GNA11 GJA1 NDUFAF6 RTL1 TERT SOX3 TRPV6 GEMIN4 CRIPT SGMS2 ANTXR2 HFE P4HB FAM20C CTNS BANF1 GALNS MAN2B1 PYCR1 ZNF469 OCRL DCAF17 GNPAT SFRP4 TBL2 DMRT3 RFWD3 NPHP4 NF1 CCDC141 MIA3 SLC35A2 SMS HHAT DKC1 TRAF3IP1 WWOX DPM2 LBR WNT3A PLS3 FOXA2 FSHR TET2 DNAJC30 NDP SLC9A3R1 HESX1 COL5A2 MMP2 SRSF2 SLC26A2 CHD7 NSMF GTF2H5 COL2A1 PSMC3IP VCP HLA-DQB1 IL12A POLR1D UFSP2 NAB2 STAT1 GPAA1 PHKA2 CPLX1 SLC10A1 EIF2AK3 CSF1R ZFPM2 RUNX1 FGF23 FANCA DPAGT1 IFT52 DKK1 CANT1 PIK3CD MTRR ARL6IP6 ABCC6 PIGU INVS SRC CCN6 EHHADH GTF2E2 TBCK POU1F1 USP9X TONSL FANCF LETM1 CTC1 NR0B1 PSAP KNSTRN FEZF1 NDUFAF1 TAC3 NSD2 GFI1 GTF2IRD1 TYROBP OFD1 NUP107 TERC IFITM5 HGSNAT LMX1B RAB3GAP1 PTEN SCN9A GPR35 SLC39A14 NAGLU ADAMTSL2 PSAT1 WT1 SYK SRY SEMA3E LIFR GLB1 IRX5 LARS2 XRCC2 TCF4 GATA1 ZMPSTE24 TJP2 CTNND2 ALB AFF3 FANCC MRPS22 SEMA4D EFL1 DDOST NPM1 LAMA3 GK MALT1 SLC25A4 SEMA5A NPHP3 PLEC MAD2L2 LEMD2 SMARCD2 POLG SLC17A5 UNC80 POLR3H IL17RD GNRHR BMP1 COX4I2 FUT8 LAT2 RPL11 BNC1 HSD3B7 HJV KIF1A FERMT3 MLXIPL CAVIN1 RETREG1 CYP19A1 LIMK1 TBXAS1 MTX2 PRDM5 BAZ1B CEP164 POLR3A AVP MMEL1 SLC25A19 OTX2 RTEL1 MST1 ACP5 VPS53 USB1 HAMP RNU4ATAC BMP15 SPARC TSPAN12 TWNK AIFM1 SMAD3 HLA-DQA1 FKBP6 CLDN4 NPAP1 NPHP1 DHX37 FANCG ASAH1 BRIP1 DLK1 SNORD115-1 FANCM PALB2 WNK1 HP_ABNORMAL_CIRCULATING_CARBOXYLIC_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_CARBOXYLIC_ACID_CONCENTRATION NDUFS4 SARDH CTH SLC4A1 PSPH SLC25A15 HPD GPX1 TRMT10C SPTB UROS VIPAS39 PRODH PKLR NOS3 NAGS MMADHC TAT MIPEP ABCC2 UROC1 SLC30A10 MTO1 SLC25A13 NR1H4 PRF1 LRP5 PKHD1 GUCY2D GCH1 MTHFR PRKCSH ASS1 UGT1A1 SPTBN1 MT-ND3 PTS EPB42 APP GLYCTK FTCD MRM2 BAAT POMC ARG1 MT-ND1 SEC63 PC DNAJC19 ASL TSHB QDPR L2HGDH UQCRC2 ADK SC5D SBDS POLG2 GCSH MT-ND4 ETFA RFX6 RHCE SCO1 AHCY GLDC CBS SLCO1B3 DLD ALDH4A1 ABCB11 IRF6 LIPT2 TRMU KYNU TMEM70 ATP8B1 MT-ND2 KARS1 FARSB RHAG PDHX MCCC2 BCKDHB GLRX5 ANK1 CPOX OTC MMAB PAH SUCLG1 PNPLA8 NADK2 CPS1 DUOX2 GATA1 COX16 MT-TW TNFSF15 ALDH5A1 ZNF699 NDUFC2 OAT TJP2 PSAT1 MAT1A LMBRD1 MPO GALT DNAJC21 FDFT1 PCCA KIF23 BCKDK PDHA1 SLC7A7 GNMT EFL1 FH TNFRSF11B TYMP ABCD3 UBE2A MTRR MRPL3 GCDH PIGA ALDOB RRM2B SLC2A1 PAX8 PET117 VPS33B IL12A IYD AMT SLC6A3 MMAA CA5A GYPC COX5A MT-ND5 SLC19A1 EPB41 EIF2AK3 SLC5A5 TTC37 HCFC1 TNPO3 MMACHC FBXL4 TSHR TALDO1 FAH SLC17A5 FBP1 WDR35 PFKM MT-ATP6 G6PD COX10 SLC10A1 POLG HFE LIPT1 SPR GLUL PCK1 COQ9 IL12RB1 TG HSD3B7 AASS SLC35A2 MT-TK CASK PAFAH1B1 KLF1 SPTA1 SRP54 SLCO1B1 PNPO COX8A OSTM1 DGUOK MCCC1 RHD HK1 ETFDH PCBD1 ABCD4 MCEE ODC1 NDUFB10 AKR1D1 MDH1 MICOS13 MT-TL1 ASPA MMEL1 SUGCT IDH2 DZIP1L TMEM126B DUOXA2 HBB IGF1 ETFB LBR BCKDHA IRF5 PCCB MT-ND6 ATP5F1A NFS1 PEX19 CPT2 DMGDH MTTP HAL POU2AF1 UNC45A KCNN4 PIEZO1 NDUFA13 BCAT2 PDP1 TPO MT-TV PRDX1 COX6B1 PGK1 PHGDH ACSF3 MMUT AMACR SPIB ABCB4 SUCLA2 DBT PLAU MTR GSR HP_ABNORMALITY_OF_LYSOSOMAL_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LYSOSOMAL_METABOLISM GNPTAB TNFRSF11B CLN6 PSAP CLCN7 CLN8 DNAJC5 OCRL CA2 ASAH1 HP_ABNORMAL_CIRCULATING_FATTY_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_FATTY_ACID_CONCENTRATION ABCD1 PEX10 HNF4A HSD17B4 ACAD8 ABCC8 PEX19 KCNJ1 ACADS PEX7 SLC12A1 NADK2 NDUFAF6 PEX1 EHHADH PEX5 ACADVL COX16 PEX3 HNF1A MMACHC CPT2 LTC4S UCP2 PEX12 TANGO2 SLC22A5 PEX2 LMBRD1 PHYH MMP1 PEX16 PEX26 CTNS HADHA ACADM PEX14 ACAD9 COL7A1 TRMU GATM HADH MTX2 GLYCTK SLC52A1 PEX6 SCO1 MT-TE PEX13 SLC25A20 HADHB DLD PLA2G4A HMGCL SLC34A1 PEX11B HP_ABNORMALITY_OF_ACID_BASE_HOMEOSTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_ACID_BASE_HOMEOSTASIS SHOX MCCC1 COQ2 NDUFS1 HPD SURF1 NEUROG3 DNM1L PDHB SLC12A1 HNF1B AGK SFXN4 UQCRB CHCHD10 MT-ND6 PDHA1 SLC25A3 NDUFAF6 MT-CO2 MMADHC INS AGXT MT-TV MIPEP CYP11B2 TK2 CLPB PNPO MRPS28 INSR NDUFA2 TXN2 CTNS MT-TS2 MRPL44 MRM2 NAXE MT-ND1 PC OCRL SCNN1B MRPS16 MDH2 POLG2 MT-ND4 MPV17 SLC52A1 LIAS CARS2 MT-TE POLG ISCU BCS1L CPT1A LIPT2 TWNK HMGCL SLC34A1 TMEM70 MT-ND2 PHKG2 PDHX BCKDHB ASL ACADS AIP NDUFAF3 FBP1 MMAB SUCLG1 CYP17A1 CUL3 PNPLA8 ATP6V0A4 COX16 NDUFA8 LARS2 CLCNKB NDUFC2 CACNA1S ATPAF2 MT-TW UQCRFS1 TACO1 YARS2 LIPT1 SLC19A3 FOXRED1 MLYCD CACNA1D GATA3 SLC25A26 PLPBP SLC7A7 ACAD9 NDUFA10 PCCA RARS2 SLC25A10 GTPBP3 PUS1 NDUFV2 SCNN1A FH RRM2B NDUFB9 NDUFS8 TYMP MT-TC CLCNKA NARS2 PNPT1 KCNJ11 ZFP57 MRPL3 GCDH PIGA ISCA1 QRSL1 GYS2 MT-TF HNF4A ACAT2 PET117 CYP11A1 SLC25A42 CA5A COX5A MT-ND5 NR3C1 EIF2AK3 HLCS NDUFAF4 FBXL4 COX20 FAH LDHA PHKA2 SLC4A1 NDUFAF2 TRMT5 PET100 SERAC1 BSND TANGO2 SLC25A4 NDUFA12 ETHE1 NDUFS2 MPC1 PCK1 NDUFS3 PAX4 COX15 COQ9 JAG1 MT-TK WNK4 HADH CA2 SLC37A4 NDUFAF5 TSFM GOT2 FN1 NDUFA13 COX8A DPYS KCNJ5 DGUOK MT-TL1 MT-TS1 NDUFS7 SCNN1G ETFDH ABCD4 AIFM1 HSD11B2 TIMM50 MICOS13 SCO2 GATM HSD17B10 GATB EHHADH IDH2 NDUFA1 HYMAI NDUFS4 PPA2 ETFB SLC4A4 GFM2 GATC NFS1 SDHA TKFC PDSS2 NUBPL PMPCA MT-TQ USP18 TRMU DLD SARS2 MRPL12 PDP1 NDUFAF1 MT-TI PRDX1 COX6B1 G6PC1 IL6 NR3C2 NDUFV1 PAH ECHS1 SUCLA2 STX3 BTD CYC1 PDSS1 TRMT10C MT-TN OXCT1 NDUFA9 HIBCH KLHL3 RNASEH1 KCNJ1 VIPAS39 RYR1 CLCN2 ATP6V1B1 MT-TP EARS2 SLC13A5 SYNJ1 ATP5F1D COX14 COA8 C1QBP MTO1 SLC25A13 FARS2 IVD RARS1 HNF1A SLC3A1 COA6 ASS1 NOTCH2 TIMM22 IBA57 MT-ND3 GLYCTK HADHA SDHB MT-TT LRPPRC ATAD3A TRNT1 DNAJC19 MECP2 HPDL L2HGDH UQCRC2 SDHD KCNJ10 COQ4 ABCC8 WARS2 NDUFA6 ETFA SCO1 WNK1 PTPN22 FASTKD2 LYRM7 MT-TH MTFMT SLC16A1 SLC5A1 AUH NDUFS6 AARS2 KYNU NDUFA11 KARS1 USP8 OTC MARS1 EPG5 NFU1 MT-CO1 MRPS22 NADK2 CPS1 SLC12A3 ELAC2 SLC26A3 ALDH6A1 NDUFB8 LCT TAFAZZIN GALT SLC25A19 PYGL ALDOB LONP1 OGDH NDUFB10 NDUFAF8 UQCRQ IKZF1 HS6ST2 MTRFR SLC2A2 ACSF3 GK COQ8A ACADM BOLA3 INVS ALDH7A1 MYO5B CYP27A1 HADHB PLVAP LYRM4 MT-TL2 VPS33B MMAA NGLY1 PITRM1 HLA-B ITGA3 HCFC1 MMACHC MRPS34 COX6A2 MRPS7 WDR35 CLDN16 GSS MT-ATP6 COX10 CPT2 ACADVL PMPCB DARS2 MCCC2 CAD LMBRD1 NDUFB11 FDX2 CAMKMT DLAT PREPL UQCC2 ATP5F1E SQOR TPK1 TARS2 MRPS14 HTRA2 MCEE NDUFA4 SLC25A15 MT-CO3 NDUFB3 PLAGL1 SUGCT PPM1B TMEM126B ADAMTS13 TIMMDC1 BCKDHA SOD1 PCCB YARS1 KCNJ16 MT-CYB LARS1 ACAT1 UQCC3 COX4I1 TUFM GFM1 MMUT ITPR3 RMND1 DBT GFER HP_ABNORMALITY_OF_CIRCULATING_LEPTIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CIRCULATING_LEPTIN_LEVEL CIDEC AGPAT2 ZMPSTE24 LMNA BSCL2 LIPE LEP AKT2 MECP2 LEPR HP_ABNORMAL_CIRCULATING_NITROGEN_COMPOUND_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_NITROGEN_COMPOUND_CONCENTRATION CFHR1 MCCC1 PPARG HSD17B10 SLC25A15 ZPR1 CPS1 CYC1 CFHR2 SLC25A20 TMEM70 CFHR3 CFH BTD MMAA SLC25A42 CA5A EIF2AK3 FLT1 HNF1B GLUD1 HLCS GPHN SLC37A4 NAGS NDUFAF6 ATP5F1D MUC1 AVPR2 PKD1 SH2B1 PRPS1 DBH SLC25A13 FBP1 COL4A3 CLDN16 MMACHC PFKM PCCA CPT2 ELP1 ACADVL MCCC2 CAD SEC61A1 ASS1 SERAC1 TANGO2 GLUL HPRT1 HADHA TNFRSF11B CORIN MRM2 MMUT SLC22A12 MOCS2 ARG1 PCCB LMAN1 MCFD2 ASL TMEM260 HNF4A HADH MECP2 AASS STOX1 UQCRC2 ERCC8 DNAJB11 NDUFA6 GOT2 SLC2A9 GANAB NBAS NR1H4 ERCC6 DLD COQ7 HMGCL SLC34A1 PCBD1 CTNS C3 ALMS1 PKD2 BICC1 OTC EHHADH MMAB XDH PNP CCND1 ADAMTS13 MOCOS PDHB WDR19 FAN1 RINT1 CPT1A HBB GALNT2 UMOD ATPAF2 NT5E CC2D2A ALG9 SLC22A5 SLC7A7 CFI CD46 ALDOB ACADM REN THBD ACAD9 MYC GATM MOCS1 SARS2 SLC2A2 TUFM TREX1 COX6B1 CFB G6PC1 ERCC4 INVS TNFRSF11A ACAT1 OCRL PIGA HADHB HP_ABNORMALITY_OF_TEMPERATURE_REGULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_TEMPERATURE_REGULATION SLC4A1 ATP7A SH3KBP1 HBB CFH NTRK1 MYO1E HLA-DPA1 SLC12A1 HERC2 LACC1 IFNGR1 GAA PTCH1 VANGL2 PTPN22 MT-ND6 ATXN3 LAMB3 SH2B3 CYP11B2 CCR1 EDARADD MEFV DLL1 TNFAIP3 TDGF1 FGF8 MBTPS2 CHEK2 AVPR2 FIP1L1 HMBS SPTBN1 AQP2 DCLRE1C FAS MT-TS2 P4HA2 NLRP3 SIX3 TRIM28 MT-ND1 IL7R IL2RG IFIH1 SAMHD1 TSHB SCN4A BACH2 ZFHX2 POU1F1 ERCC8 MT-ND4 FOXH1 BCOR LBR MYD88 CYBB HMGCL CLEC7A PTPRO NKX2-1 MT-ND2 DBH HLA-B EDAR SRP54 PSTPIP1 GLI2 ZIC2 MAGI2 FBP1 HSPG2 STAT6 SUCLG1 NDN NALCN MPL LHX3 MADD TBC1D8B ZNF699 CACNA1S RANBP2 STAT4 JAK2 UQCRFS1 WDR1 AK2 LAMC2 SCNN1B HLA-DRB1 HAVCR2 TRAF3 BTK ERCC4 TGIF1 GCH1 HNRNPK CD79A ERAP1 LIPA MT-TW WT1 INF2 SNRPN POU6F2 SRSF2 PSENEN UBA1 ADAR PRKCD MTMR14 PML ARHGDIA DISP1 CLCN6 RNF168 SLC5A1 XIAP PAX8 IYD SHH ORAI1 BCR ALG11 GYPC MT-ND5 EPB41 EIF2AK3 IL23R ARL3 SLC5A5 MYO1H IGLL1 NAB2 ACTN4 NPHS1 ERCC5 CD247 BIRC3 TSHR F5 TLR3 RAG2 G6PD NECTIN4 CD244 CIITA SLC29A3 TRAF3IP2 TREX1 NODAL IL17RC HEPHL1 OCA2 ABCA12 PRF1 GALC IL10 LPIN1 SCN9A DAAM2 CD2AP TRIP13 NPHS2 CDON ZBTB16 CFTR UBE3A IRAK1 NOD2 TSPOAP1 MT-TK PSMB9 CASK FGFR1 UNC93B1 MAP2K2 CD27 RYR1 CFHR3 DGUOK SNORD116-1 LPIN2 KDF1 MIF PSMB8 SLC18A2 CYBA PTPN2 PMM2 KRT14 SLC22A4 NUP205 ABCC6 TET2 TSC2 MALT1 TSPYL1 STAT3 MICOS13 KRT5 ABCC2 CCND1 C2orf69 LYST TBX3 NCF1 PRNP TBCK TMEM165 PWRN1 IL6 STAT5B MYH3 MTHFR IL36RN MKRN3 ABL1 MT-TF PWAR1 IL6R PRKAR1A SPTA1 CHRNA1 RUNX1 BCAP31 MT-TQ PRSS2 PMP22 TPO LIG4 ANKFY1 POFUT1 POMP PTPN3 RAB27A ATP1A2 COQ8B CTLA4 PSAP CALR BCL10 CFHR1 NUP133 MT-TS1 GFI1 UBAC2 SPTB KCNJ1 NUP37 STAT2 PRSS1 BCL6 KIT COA6 UNC13D KLRC4 ATM VPS11 COL1A1 NUP160 C4A PKHD1 OTULIN IBA57 MT-ND3 PTS EPB42 KRT8 LHX4 NLRP12 STXBP2 FCGR3B ANLN NABP1 TRNT1 GPR35 TNFSF11 NLRP1 TRAF6 QDPR RAG1 NFKBIA LMNB1 RARA COL4A3 NUP85 GAS1 CD70 EIF2B5 SNX10 NCF2 SYK MYF6 TH TLR4 MLX ASXL1 CLCN7 MT-TH SCNN1A TRAPPC9 PAX2 IRF8 LIFR GLA TSC1 STING1 STAG2 PROP1 TCF4 ANK1 TBK1 CYBC1 STX11 SLC34A2 ANKRD55 NLRC4 SHANK3 TP53 SCYL1 AVP GAPVD1 MT-CO1 CACNA1A P4HTM SLC12A3 SCN5A DUOX2 MAGEL2 TBL1XR1 HESX1 RNASEH2B XPA LRRC8A CHD7 TNFRSF1A IL12A-AS1 EDA CLDN10 ADA2 CHRND MVK IFNG CYP21A2 CD3E EIF2B2 HLA-DPB1 RB1 ELP1 ERCC2 IL17RA SEMA4D XPC NCF4 SCN11A IKZF1 PSMB4 SLC19A3 PIK3R1 LAMA3 IL17F DDB2 ITK EMP2 TCIRG1 NUMA1 CHRNG ATP13A2 IRF2BP2 PLCE1 ENPP1 PRTN3 RNASEH2C NFKBIL1 MT-TL1 NGLY1 SLC35C1 SMC1A RIPK1 BIN1 WAS NUP93 MCM10 MMACHC SPINK1 MT-ATP6 CD79B ACADVL SPR RNASEH2A ELANE TICAM1 APOL1 CTRC SCNN1G IL2RB IL2RA KLHL7 MT-CO2 CRLF1 DST STAC3 CRB2 PSMB10 EIF2B1 BTNL2 TG NUP107 IL12B ACADSB MAP2K1 PGM1 TRPC6 GATA2 KRT18 NPM1 ERCC6 SPP1 ITPR2 PLA2G6 CR2 KIF1B SLC11A1 PHOX2B BLNK MT-CO3 COG6 POLR3A PEX6 IL12A CLCF1 WIPF1 SLC25A19 DNM2 SCN10A ADAMTS13 ATP1A3 POGLUT1 IGHM ERCC3 DUOXA2 MST1 BCL2 REST EIF2B4 H19 ALDOA LDHA FOXP1 CPT2 ADA NGF TCF3 GABRA2 NPAP1 DIS3L2 ARHGAP24 MT-TV MT-CYB ASAH1 CD3D PSMG2 RMRP GPC3 EIF2B3 SLC25A20 ACAT1 BRCA2 DDC HTR1A ALPL SNORD115-1 STIM1 HP_REDUCED_CONSCIOUSNESS_CONFUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_CONSCIOUSNESS_CONFUSION MCCC1 GBA PRDM8 SLC25A15 NDUFS1 TOMM40 CFH ADA2 ATP7B GNA11 PTCH1 MT-ND6 PDHA1 HCRT MMADHC PTS CDKN2B GNAS HNF1A CYP11B2 CCR1 DNMT1 DLL1 GABRB2 INSR TDGF1 FGF8 MOG UCP2 COL13A1 SLC25A19 HMBS HFE ERCC2 GATA1 FAS MT-TS2 MAN2B1 SIX3 NAXE MMUT SCN4A PSAP PIK3CA TSHB MRPS16 POLG2 POU1F1 FOXH1 APP SIK1 CPT1A RPS27 FIG4 DOK7 HMGCL ERCC3 CACNA1A PDGFB HLA-B ABCA7 TBP BCKDHB ASL ACADS CHRNE GLI2 NDUFAF3 BAP1 ZIC2 SLC19A3 FBP1 RPS20 MMAB STAT6 LHX3 ACADVL DMPK CUBN STAR RANBP2 STAT4 FKRP SLC22A5 FOXRED1 RPS29 SLC7A7 RPS10 MRAP TRAF3 ACADM SLC13A3 RPL26 PCCA TGIF1 COL3A1 HADH PPOX MYOD1 GCH1 MT-ND1 CHRNA1 RRM2B ERAP1 NDUFB9 MT-TW NDUFS8 MTRR TNFSF4 GJB1 MC2R PSEN1 RPS24 DISP1 PIGA NAA10 SLC39A4 SLC2A1 CPOX HNF4A PAX8 ERCC5 IL12A SLC25A20 IYD SHH RPL27 CA5A COX5A IL23R SLC5A5 GLUD1 HLCS NDUFAF4 HADHA NAB2 TSHR CDKN1B TLR3 NDUFAF2 YY1 AKT2 CHRND NDUFV2 GCK NODAL RYR1 GYS2 PRF1 HLA-DQB1 CDON CTNNB1 TCN2 CASR RPL15 IRAK1 TSPOAP1 PRNP FGFR1 UNC93B1 MT-ND2 PDX1 RAPSN NDUFAF5 TWNK DPYS CFHR3 BNC2 NHLRC1 SMO ETFDH ABCD4 NDUFS2 AUH GCDH IL10 SLC25A13 RPL31 NDUFA1 NDUFS4 FKTN PSEN2 ETFB SLC2A3 IRF5 KCNE1 NFS1 MT-TF NUBPL HLA-DRB1 NDUFS3 CPT2 CDKN2C MT-TQ TREM2 USP18 CDKN1A DLD CHRNA2 ABCC8 TPO POLG PRDX1 CDH23 IL18BP ATP1A2 NDUFV1 AGRN RPS17 PRRT2 TBK1 TRHR BTD CFHR1 RPS28 SIM1 RPS15A MT-TS1 MYD88 UBAC2 RPL18 NAGS NFKB2 ATP5F1D ZNHIT3 MT-TE COA8 NDUFS7 MEN1 IVD MEFV NUP88 RPL35 ZNF365 KLRC4 PIGG MTHFR RPL35A ASS1 C4A ARSA AKT1 KRT8 CHRNB1 CTSH MT-TT LHX4 STXBP2 ADORA2A TSR2 POLR3K SLC19A2 ISCA2 SNCB HADHB GCSH GAS1 EIF2B5 ETFA GLDC TH TLR4 MLX LYRM7 MT-TH BRAF NDUFS6 NOTCH3 KYNU SCN1A STAG2 PROP1 SLC1A2 STX11 OTC ABAT NFU1 AVP MT-CO1 RPL5 CPS1 DUOX2 MAGEL2 TNFSF15 HESX1 ALAD ALDH4A1 IL12A-AS1 SMARCB1 MUSK TRAF7 LMBRD1 RPS26 EIF2B2 ALDOB LONP1 LRP4 NDUFA6 NDUFB10 SLC4A1 USP8 GALT SUFU GK P2RY11 GLYCTK NOTCH2NLC SLC25A4 BOLA3 SLC12A3 NDUFAF1 ATP13A2 NNT MT-ND4 ERCC4 AK9 AMT CLCNKB MMAA MT-TL1 SMC1A SLC18A3 NAXD PRPS1 TNPO3 MMACHC EPM2A UNC13D SPR TICAM1 MCCC2 CYP24A1 THRA MT-CO2 TXNRD2 NDUFB11 SORL1 KCNQ1 EIF2B1 NDUFA11 IL12RB1 TG RPS19 HJV SCO2 NF2 KCNJ11 SMARCE1 IL12B SQOR ACADSB RPS7 STAT3 SLC25A22 POMT2 MT-ND5 NBAS KRT18 SPP1 ATP5MK PLA2G6 RPL11 NDUFAF8 TERT MT-CO3 POLR3A MT-ND3 MMEL1 SUGCT ADAMTS13 DUOXA2 INS KIF1A TBC1D24 POMT1 DHCR7 TIMMDC1 BCKDHA HAMP PCCB EIF2B4 ASPA ABCD1 POU2AF1 HTT NDUFB8 SURF1 MT-CYB NDE1 DPYD EIF2B3 SPIB ACAT1 NDUFB3 PLP1 RMND1 LARGE1 SNCA TMEM126B DDC DBT HP_FOCAL_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_DYSTONIA PANK2 TBP B3GALT6 THAP1 TBC1D24 POLR1D MECR MAFB CIZ1 DRD5 SYNGAP1 FLI1 COLEC11 VPS16 GNA11 MAPT COASY COL6A3 HPCA TUBB4A TIMM8A COX20 PCGF2 CDK10 GNAS SIGMAR1 GCH1 FTL PLA2G6 CNP COL6A2 ZNF142 SLC39A14 KCTD17 DRD2 SPTBN1 TCOF1 STX16 COL12A1 CASR KMT2B CACNA1A TSPOAP1 PRKRA PRKCG POLR1B VPS13A ATP1A3 KIF1C KCNA1 SALL4 TH TGFB2 TUBB3 SPG11 SCP2 SGCE FGFR2 CP COL6A1 ANO3 NGLY1 AARS1 ATP13A2 PRRT2 GNAL TGM6 ALG9 C19orf12 HSPG2 ALDH18A1 PNKD CPLX1 PARK7 ALS2 MYF5 KCNC3 TOR1A ATN1 FGFR3 HK1 POLR1C VAC14 GDAP2 SLC19A3 ARX STARD7 HINT1 TWIST1 NEK9 TAF1 TRPV4 DDC ACTA1 FUS CHN1 NAA10 CEP85L HP_HEMIPLEGIA_HEMIPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIPLEGIA_HEMIPARESIS CFHR1 GBE1 ENPP1 BMPR1A MT-TS1 CFH MLH1 UBAC2 COL3A1 RBPJ ARNT2 MEOX1 EOGT HLA-DPA1 USP45 ATP1A3 MT-ND6 TTR GJB6 MT-CO2 GALC MT-TV KRAS ENG MEFV MMP23B PRF1 CCR1 KLRC4 GDF6 MTHFR C4A ADA2 RHOBTB2 AKT1 PTEN STAT4 ATP1A2 PIK3CA TGFBR2 FAS POMGNT1 BAP1 CYP26C1 SPEN MT-TS2 PMS2 APOA1 SPATA7 MMUT TPP2 B3GALNT2 GJB2 DNASE1L3 LRAT IFIH1 IFT140 SAMHD1 SNORD118 MLH3 TREX1 FGFR1 TPRKB AIPL1 IMPDH1 MSH2 CPT1A TLR4 MT-TH WDR62 NOTCH3 ABCA1 GUCY1A1 CACNA1A PDGFB SCN1A WDR4 PROKR2 ARG1 RERE PRKCZ SEMA4A MT-ND5 PAH NAGA CBS MT-CO1 PNPLA8 RPS20 IQCB1 DOCK8 RNASEH2B ABCC6 CRB1 RDH12 MT-TW COL4A1 MTOR IL12A-AS1 SMARCB1 LUZP1 THSD1 MT-TQ SPOP TRAF7 IKBKG HLA-DPB1 MT-TL1 TGFBR3 LAGE3 GMPPB OSGEP PDGFRB RD3 SLC1A3 SUFU ERAP1 SOX3 MT-TC TP53RK ADAR LCA5 SP110 MT-ND4 LARGE1 PCYT1A SLC2A1 PRTN3 L1CAM NMNAT1 RNASEH2C TUBB2B KCNJ13 IL23R SUOX POMT1 RNF216 NF2 SCN5A MT-TF NPPA CEP290 RNASEH2A ANGPTL6 TTPA DCC COL4A2 MSH6 HESX1 NUP107 HLA-DQB1 PHYH KCNAB2 HLA-B MT-TK SOX2 TBC1D24 IRAK1 SMARCAL1 PRNP DNM1L UBE4B TULP1 SMARCE1 MT-ATP8 ARX MT-ND1 EPCAM AKT3 CFHR3 OPA1 POMT2 FKRP SPP1 SKI SMO HMGCL ARHGAP31 WDR73 TERT TLR3 MT-CO3 IL10 OTX2 PEX7 HSPG2 IL12A DLL4 SLC12A6 CRX TP53 PMS1 RRM2B CASZ1 PRDM16 GDF3 FKTN NUP133 FAN1 ABCD1 RPE65 TSC2 MT-CYB PTPN22 NOTCH1 PNPLA6 RPGRIP1 DOCK6 GNAQ TSC1 CTLA4 PRRT2 CTC1 GABRD PDPN HPRT1 TBK1 GUCY2D HP_NEOPLASM_OF_THE_NERVOUS_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_NERVOUS_SYSTEM RB1 SDHD POT1 RNF43 NF1 KEAP1 GPC4 BMPR1A SIX3 MLH1 ALX3 PIK3CA MAFA SUFU VHL WRN FLI1 PTEN LMNA VPS16 FGFR1 BAP1 CDKN2B KRAS SDHC STIL MEN1 GLI2 TCTN3 MMP23B NTHL1 APC RAF1 TOP2A NF2 WDPCP ZIC2 SPTBN1 AKT1 RUNX1 MSH2 GLI3 TGFBR2 SDHB SPEN ALX1 EWSR1 PMS2 TMEM127 CDKN2A TSC2 SMARCB1 APC2 MLH3 RET ALK MN1 SMO SDHAF2 EP300 EDN3 PHOX2B KLLN PDGFB TUBB RERE PRKCZ CHEK2 BRAF SEMA4A ATRX TSC1 STAT6 SHH NOTCH3 RPS20 WT1 DLST RELA PDE6D KARS1 ZSWIM6 GPC3 CCM2 IDH1 ADAMTS3 IFNG SMARCA4 GDNF LUZP1 TRAF7 YY1 MAX BRCA2 LRP1 PRKAR1A ASXL1 FAM149B1 MYO1H PDGFRB CDKN1B TP53 SLC25A11 DNMT3A DISP1 SETBP1 MDM2 PTCH2 USF3 FGF8 CPLANE1 MSH3 OCRL PTCH1 GNAS MDH2 PALB2 DICER1 L2HGDH SMARCE1 NAB2 FAT4 DMPK POLD1 LMO1 DAXX AAGAB NSD1 COL14A1 MSH6 HRAS NBN KCNAB2 CTNNB1 TMEM216 CREBBP SPRED1 SETD2 UBE4B EPHB2 LZTR1 NUTM1 KIF1B EPCAM PDCD10 OFD1 SKI PTPN11 KIT SIX6 KIF7 BDNF HACE1 NRAS TERT GCDH CCBE1 HSPG2 PMS1 SEC23B MYCN CASZ1 BRD4 PRDM16 LIN28B ASCL1 CCND1 FAN1 ERBB2 ZFTA POLE EPAS1 SDHA FH CDKN2C ARMC5 GCGR CDKN1A SOX2 KRIT1 KIAA0753 MAPRE2 IDH2 LRP5 GABRD PDPN HP_HEMATOLOGICAL_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMATOLOGICAL_NEOPLASM RB1 TNFRSF13B BCL10 NRAS RPS28 BRCA2 POT1 RNF43 RPS15A SH3GL1 ATRX BUB3 FCHO1 BUB1B MYD88 PIK3CA GFI1 ADA2 KIF11 RPL18 NBEAL2 KRAS NAGS BCL6 DYNC2LI1 TERT TYROBP KIT KLHDC8B MPL ICOS SH2B3 CD81 DNAJC21 RAF1 ZAP70 RPL35 SBDS TERC ATM CBL RPL35A F13A1 NF1 FAS FANCA ARHGAP26 RUNX1 DCLRE1C MSH2 NHP2 GATA1 PGM3 PIK3R1 FLT3 FANCC SRSF2 SLX4 MAP2K1 TET2 NUP214 TP63 PTPN11 DNASE1L3 IL2RG TSR2 IFIH1 SAMHD1 APC2 PDGFRB PICALM CD19 MSH6 CD70 GNB1 JAK2 SYK TNFRSF13C PDGFRA STAT3 RPS27 RFWD3 MCM4 BLM PIGL ASXL1 ERCC4 SAMD9L TAL2 NUMA1 DNMT3A IL7R TP53 SRP54 XRCC2 GATA2 RAG1 CHIC2 TREM2 HSPA9 CTPS1 CHEK2 BRAF RPS20 PARN PNP RPL5 BCR TNFRSF1B DKC1 ELANE NOP10 RNASEH2B LIG4 CHD7 ALAD LPP IKZF3 NBN RAG2 RPS29 RPS10 RPS26 CD28 TNFSF12 TINF2 SF3B1 POLE RPL26 CR2 RARA SCN11A CCND1 UBE2T EFL1 CTLA4 NPM1 PTEN RPS14 GINS1 ITK CDKN2A SETBP1 RAD51 ADH5 RAD54B MDM2 UBA1 TCIRG1 ADAR ADA PRKCD RPS24 NFKB1 MAD2L2 RECQL4 MLH1 HLA-DQB1 NFKB2 RPL27 RNASEH2C BUB1 RASGRP1 SOCS1 SMARCD2 SH2D1A MAGT1 EVC WAS FANCE CALR BIRC3 IKZF1 AAGAB RNASEH2A NSD1 CASP10 TREX1 FANCG PMS2 COL14A1 GLI1 FANCI SRP72 SCN9A TAL1 ETV6 DDX41 NTHL1 NSUN2 STS SAMD9 RPL15 FANCD2 RPS19 SMARCAL1 SETD2 CD27 FANCL NUTM1 ABL1 RPS7 MEFV RPL11 APC MYSM1 TCF4 MALT1 FANCB GBA WIPF1 EVC2 CREBBP THPO SCN10A RAD54L RTEL1 CEP57 BRD4 SMPD1 LRBA RPL31 BAX HAX1 CBFB WRAP53 CEBPA BCL2 USB1 RHOH MS4A1 FOXP1 HLA-DRB1 FANCF HLA-DQA1 XRCC4 CTC1 ANAPC1 TRIP13 FASLG F13B LZTR1 MLLT10 EP300 BRCA1 RMRP MYC XIAP RPS17 BRIP1 PRF1 ERBB3 FANCM PALB2 RAD51C HP_ABNORMALITY_OF_THE_ANUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ANUS BRCA2 SALL4 MKKS LONP1 GAS1 CDH11 MEOX1 PIGL CCNQ KIF7 KMT2D TGIF1 FANCB MYCN TNFRSF13B SLC25A24 CDH1 MAMLD1 HOXD13 TBX3 ICOS DDB1 TNRC6B MMP23B CD81 RSPO2 FOXF1 TWIST2 C2CD3 PIGV EMC1 DYNC2I1 ZIC3 GLI3 EXTL3 SPEN SHH SLX4 ABL1 SIX3 DACT1 IFT80 NDUFB11 MID1 PITX2 FREM2 COX7B RRAS2 DYNC2I2 FERMT1 PIGY WNT3 RFX6 SYK NXN DLL1 RFWD3 RECQL4 FREM1 DYNC2H1 ERCC4 CHD7 CD19 GRIP1 PIGN XRCC2 MKS1 FGFR2 SALL1 CYBC1 TWIST1 RERE PRKCZ TDGF1 AMER1 NODAL SMO ATP2A2 ROR2 SUZ12 MED12 DVL3 IKZF3 EHMT1 FKRP PQBP1 LUZP1 INTU FANCL ADAM17 SPINT2 MMP1 DCHS1 TNFSF12 FANCC UPB1 HCCS PIGW CDON UBE2T B3GLCT SETBP1 RAD51 AR PSENEN CD96 FGF8 TGFB1 NFKB1 DDX6 PGAP3 MAD2L2 SEC24C IL10RA SPECC1L NFKB2 COMT SEMA3E USP9X JMJD1C GDF6 FOXC1 POR FANCE BCOR CDC45 WDR35 PGAP2 UBR1 ACADVL ELANE ZIC2 GLI2 FANCI KDM6A CR2 NBN HSPA9 PTCH1 KCNAB2 CTNND1 NSUN2 FANCA DOCK8 EGFR FUZ SNRPB UBE4B PORCN SIN3A CHRM3 CCDC22 POMT2 VANGL1 DPYS HIRA WASHC5 SKI ATN1 FRAS1 TBX1 EPCAM RIPK1 FOXH1 KRT5 TP63 HSPG2 PIGO GATA1 UFD1 LIG4 CASZ1 POGLUT1 RIPK4 PRDM16 GDF3 FKTN POMT1 MNX1 CEP120 TNFRSF13C WNT7A FLI1 GP1BB MS4A1 FANCF ESCO2 THOC6 DKC1 ARVCF CAPN15 ISL1 CHD4 PTDSS1 COL7A1 PRKCD FANCG RAD51C POFUT1 RREB1 NAA10 IL10RB PPP2R3C BRCA1 TCTN3 BRIP1 FANCD2 CDK8 LARGE1 GABRD PDPN DISP1 FANCM PALB2 PKP1 KMT2C FAT4 HP_ABNORMALITY_OF_ALKALINE_PHOSPHATASE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_ALKALINE_PHOSPHATASE_LEVEL SLC39A4 CYP2R1 VCP HNF4A SLC34A1 IL12A ENPP1 PIGA SLC2A2 CCDC47 PIGB PIGL TNPO3 TRPV6 PGAP2 SLC25A13 HNF1B NR1H4 PIGT CBL PIGV CHEK2 TCIRG1 SGMS2 ELMO2 PKHD1 ABCB4 FAM20C RUNX1 PIGW SRSF2 VDR FGF23 PRKCSH IL12RB1 TMEM199 DMP1 SQSTM1 SLC34A3 GPR35 CCDC115 ESR1 TNFRSF11A SC5D ABL1 PTH1R PIGY PLEKHM1 ALPL LIPA HNRNPA2B1 ABCB11 PIGK HNRNPA1 ATP8B1 ABCC6 AKR1D1 CTNS TCF4 PIGO MMEL1 CYP27B1 TP53 SIK3 CYP7B1 MST1 TNFSF15 PIGS CLCN7 LBR IRF5 PHEX SOST COG4 COG6 RB1 SEMA4D CYP3A4 POU2AF1 TET2 FKBP10 ZNF687 PIGQ TREX1 TNFRSF11B PGAP3 BCR SPIB CEBPE ASXL1 HP_AORTIC_VALVE_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AORTIC_VALVE_CALCIFICATION HGD GATA5 NKX2-5 NOTCH1 GBA ZMPSTE24 SMAD6 LMNA IFIH1 HP_SUPRAVALVULAR_AORTIC_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPRAVALVULAR_AORTIC_STENOSIS BAZ1B LAT2 STX1A NCF1 GTF2I RFC2 FKBP6 ABCG5 GTF2IRD1 CLDN4 DNAJC30 ELN VPS37D LDLRAP1 FBLN5 CLIP2 MLXIPL ABHD11 RRAS2 LDLR BUD23 ABCG8 TMEM270 APOB EFEMP2 METTL27 BCL7B TBL2 GTF2IRD2 LIMK1 CLDN3 EIF4H PCSK9 HP_MITRAL_VALVE_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MITRAL_VALVE_CALCIFICATION HGD SLC34A2 GBA FBN1 IFIH1 LMNA MTX2 ZMPSTE24 HP_PROTRACTED_DIARRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROTRACTED_DIARRHEA CIITA CD3E CD3D RFX5 RAG2 CD247 DAXX RFXAP RFXANK MYO5B ATRX SDHD RAG1 HP_GASTROINTESTINAL_INFLAMMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROINTESTINAL_INFLAMMATION MYH11 XIAP ATP7A TRAPPC11 IL10RA PSPH IL12A FCHO1 ABCB1 INAVA RASGRP1 FCN3 IL6 TNPO3 CTLA4 WAS IARS1 UNC13D LAMB3 ELANE ZAP70 MEFV OPLAH TNFAIP3 ADAMTS2 SLC2A10 CASP10 FOXP3 ATAD1 F13A1 IVNS1ABP FAS LMX1B PRF1 HPS1 RPL11 STXBP2 SMAD3 IL12RB1 JAK1 COL7A1 SKIV2L MEN1 BCL10 GPR35 GPHN BACH2 ADAMTSL2 SLC9A3 TGFBR1 RFX5 SYK NCF4 STAT1 TGFB2 RTEL1 RFXANK GPIHBP1 CIITA RET PLCG2 PIK3CD SLC6A5 IGHM RIPK1 TCF4 PSTPIP1 CYBC1 STX11 MMEL1 WIPF1 NLRC4 IL21 NOD2 MASP2 FERMT1 CARMIL2 ACADVL LRBA MST1 STXBP1 TNFSF15 SLC37A4 IRF5 ARPC1B TGFBR2 LAMC2 IL37 PRKCD MMP1 COG6 SEMA4D GLRA1 POU2AF1 GLRB TTC37 CDKN1B FASLG LAMA3 F13B PHGDH CARD8 IL10RB HLA-DRB1 IRGM POLA1 SPIB HLA-B TGFB1 MAP3K7 PGM3 TGFB3 RFXAP HP_ENTEROCOLITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENTEROCOLITIS OPLAH MYH11 STAT1 IL10RA ACADVL NLRC4 RET IL10RB FCN3 ELANE SLC37A4 HP_INTESTINAL_PSEUDO_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTESTINAL_PSEUDO_OBSTRUCTION MYH11 MT-TS1 MT-TS2 CDKN2A MT-TQ MT-CO3 BRCA2 MT-TL1 FLNA TP53 MT-ND6 HNRNPK RAD21 MT-CO1 MT-ND1 MT-TW DMPK MT-ND5 POLG SMAD4 KRAS TWNK PALLD RABL3 ACTG2 MT-TH BRCA1 MT-ND4 PALB2 IDS MT-TF MT-CO2 HP_HAMARTOMATOUS_POLYPOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAMARTOMATOUS_POLYPOSIS PTCH2 PIK3CA GREM1 SDHC MSH3 SDHB USF3 SDHD SMAD4 SUFU PTEN AKT1 BMPR1A PTCH1 KLLN SEC23B STK11 HP_MULTIPLE_GASTRIC_POLYPS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_GASTRIC_POLYPS APC BMPR1A SMAD4 MSH3 ENG TREX1 HP_MALNUTRITION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALNUTRITION TYMP CDH1 MSX1 SAR1B SLC7A7 MMP1 IRF6 DNAJC21 COL7A1 EFL1 LAMA3 DLG1 LMNB1 SAA1 LIPA SBDS LAMB3 SRP54 CRLF1 NOS1 ARHGAP29 POLG ACTG2 LAMC2 COX4I2 MYO5B DLX4 HLA-DQA1 ALDOB HLA-DQB1 BMP4 TP63 SLC5A1 NECTIN1 HP_POOR_APPETITE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_APPETITE SLC39A4 RRM2B PIK3R1 SLC25A26 TPM2 HACD1 RUNX1 CDKN2A BCR CTNS ACTA1 BRCA2 PCCA AMN KRT1 TPM3 BLM TP53 NAGS TGFB1 SLC2A2 ATRX RHBDF2 KRT10 MAP3K20 TYMP SLC25A13 IL18BP DAXX SMAD4 KRAS SELENON CUBN PALLD PCCB RABL3 POLG BRCA1 ABL1 PALB2 MGME1 MYL2 ITGA7 LEMD2 HP_ECTOPIC_ANUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTOPIC_ANUS GRIP1 FREM1 GAS1 PIGN CDH11 FOXH1 FGFR2 MEOX1 PIGL PIGO DCHS1 TBX3 TGIF1 GDF6 RECQL4 SLC25A24 POR TDGF1 NODAL WDR35 PGAP2 GDF3 DDB1 UBR1 NDUFB11 ACADVL ROR2 SUZ12 C2CD3 MED12 PIGV DVL3 FLI1 ZIC2 GLI2 DYNC2I1 ZIC3 ESCO2 GLI3 PTCH1 MKKS SHH SIX3 HCCS IFT80 PIGW CHD4 CDON PTDSS1 B3GLCT SNRPB FREM2 SALL1 COX7B PORCN RRAS2 DYNC2I2 SETBP1 PIGY CCDC22 RFX6 WASHC5 NXN FGF8 DLL1 CDK8 DISP1 DACT1 DYNC2H1 DDX6 PGAP3 ATN1 FAT4 FRAS1 HP_PEPTIC_ULCER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PEPTIC_ULCER BAZ1B LAT2 STX1A NCF1 GTF2I HPGD CDKN2C RFC2 FKBP6 SLCO2A1 MEN1 GTF2IRD1 CLDN4 CDKN1A DNAJC30 VPS37D CDKN1B CLIP2 MLXIPL TET2 ABHD11 KIT CDKN2B CDC73 BUD23 WFS1 SRSF2 TMEM270 GBA ELN METTL27 BCL7B TBL2 CISD2 ARID1B AP2S1 GTF2IRD2 ASXL1 LIMK1 CLDN3 EIF4H PLA2G4A GNA11 HP_ABNORMALITY_OF_THE_PYLORUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PYLORUS MID2 PLEC PEX6 LAMB3 HDAC8 PEX11B FIG4 HNF1B ARHGEF6 SPEN BIN1 FAT4 PEX1 BCOR RAB39B KANSL1 TBX3 ITGA6 MMP23B GDI1 PEX26 SERPINH1 ZNF41 SLC2A10 DLK1 RPS6KA3 PPP2R5D SH2B1 NIPBL ALG13 SLC9A7 ZNF81 MECP2 HRAS DHODH LAMA3 NEK9 ARF1 KCNAB2 USP27X PEX3 FRMPD4 ZEB2 PEX10 NPHS1 AGTR2 PTCHD1 DHCR7 PEX12 FBLN5 UBE4B ARX CAVIN1 BRD4 FTSJ1 PAK3 NCF2 ARFGEF2 TSPAN7 MAPK1 EFEMP2 MYF6 NEFH PIEZO2 MED12 CYBA SKI CYBB IQSEC2 STEEP1 ITGB4 FGFR2 CCBE1 HDAC4 RYR1 FLNA RERE PRKCZ PEX16 HSPG2 PEX5 TMTC3 DNM2 NCF1 SYP IL1RAPL1 DLG3 CASZ1 PRDM16 SMC3 PEX2 VAC14 ZNF699 UPF3B LTBP4 PEX13 SMC1A ADAMTS3 FLI1 USP9X TFAP2A LUZP1 MEG3 COL18A1 CLCN4 DYRK1A CYBC1 PEX14 NCF4 NFKB2 NEDD4L HCFC1 PEX19 CRKL RTL1 BCR ERMARD OTC NAA10 PPP2R3C MTM1 LAMC2 DMD MAP3K7 MTMR14 GABRD PDPN MAP1B ACSL4 ZNF711 RAD21 CNKSR2 HP_ABNORMAL_NIPPLE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NIPPLE_MORPHOLOGY GNRH1 NSD2 A2ML1 SMPD4 GPC4 HDAC8 ARHGAP31 CDH11 RIT1 CCDC47 PIGL KNSTRN HS6ST1 DPM1 KRAS AMMECR1 RTL1 SLC25A24 HNRNPK MAN1B1 RAF1 KANSL1 KISS1 GATA4 TBX3 TNRC6B RSPO2 PIGV PTPRF ACTB NFIX PPP2R5D ALG14 PROKR2 KDM1A IBA57 DHODH ACOX1 CBL RAB18 NELFA TP63 INSR SOS2 WDR37 WASF1 FREM2 EFNB1 UBE2A MDH2 WDR11 MGAT2 PIGY NUP188 MASP1 WNT3 EED EZH2 RNF113A NIPBL TCF20 SOS1 NF1 SLC25A46 CHD7 GRIP1 PIGN FIG4 NRAS CTBP1 HDAC4 TACR3 SLC35A2 DOLK SMS TUBB TMCO1 COLEC11 AMER1 COLEC10 ARCN1 MADD ERCC3 PPP1CB VAC14 MEG3 GPC3 DPAGT1 ADNP TOGARAM1 ERCC2 TFAP2A TWIST2 EDA INTU PROK2 NONO SOX6 IKBKG GNE FGF17 KIAA0586 CERT1 PIGW KIF15 B3GLCT CDH2 RRAS2 RFT1 ALG9 ALG3 ALG12 WAC GTF2H5 ZEB2 DDX6 PIGG PGAP3 COG7 RAD21 TBL1XR1 PTPN11 BICRA RERE ALG11 RAB3GAP2 MAPRE2 COX7B COG1 RNF216 MPLKIP PGAP2 GDF11 ALG8 CPLX1 UBR1 TRAF7 CKAP2L ANTXR1 MEGF8 PIGT GNRHR SPRY4 PACS1 ASXL3 RRAS SMARCA2 PEX3 FGF8 PORCN KISS1R FGFR1 KCTD1 BRD4 TARS1 EXOC2 CCDC22 KAT6A ASXL1 SETBP1 PIK3CD TFAP2B NSMF ATN1 FRAS1 TRRAP KDM6B PMM2 ABCD4 TCF4 IGF1R GNPTAB PIGO EBF3 MRAS GTF2E2 RIPK4 SMC3 LZTR1 DHCR7 ERMARD CSPP1 USP9X MAB21L1 KATNB1 SMC1A ZC4H2 DUSP6 OFD1 CPT2 ARHGEF2 PNPLA6 KIFBP CHRNG LETM1 EDARADD ERCC6 RASA2 CHST3 SRY NECTIN1 WASHC5 TAC3 DLK1 CILK1 WNT7A HS2ST1 BRAF HP_SPONTANEOUS_RECURRENT_EPISTAXIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONTANEOUS_RECURRENT_EPISTAXIS ACVRL1 ITGB3 ITGA2B SRC LYST ENG GP9 GP1BA GP1BB MYH9 GBA GDF2 HP_ABNORMALITY_OF_THE_SENSE_OF_SMELL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SENSE_OF_SMELL ATP7A FGFR1 SHH SIX3 HS6ST1 ARNT2 LGI1 PEX7 SEMA3A SEMA3E FGF8 HYLS1 PTCH2 STIL SMARCB1 GLI2 ANOS1 ARSL IL17RD LRRK2 DCC SOX10 TSHZ1 HESX1 SMCHD1 PROKR2 SOX9 ZIC2 AKT1 PHYH KISS1 FLRT3 BAP1 EIF4G1 PINK1 SOX2 PRKN CHD7 SLC39A14 PIK3CA NF2 SMARCE1 PODXL FGFR3 GBA PLXND1 KISS1R SNCA MICAL1 MFN2 SCP2 RELN GIGYF2 SMO UCHL1 KIF7 FGF10 PDGFB DUSP6 TACR3 SCN9A CCDC141 TERT NDNF ATP13A2 OTX2 GNRH1 FGF17 DNAJC6 WDR11 IFT27 VPS13C DISP1 FGFR2 PROK2 SLC2A3 HTRA2 ADCY3 CEP290 VPS35 TRAF7 PTCH1 DNAJC13 LZTFL1 SUFU ANK1 HTT FEZF1 SOX3 PARK7 DNAI1 REV3L TAC3 NSMF PTPN11 SPRY4 DDX6 SYNJ1 HP_HYPOSMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOSMIA FGFR1 SHH DUSP6 TACR3 SCN9A CCDC141 SIX3 HS6ST1 NDNF ATP13A2 SEMA3A FGF8 FGF17 DNAJC6 WDR11 IFT27 STIL GLI2 ANOS1 VPS13C IL17RD DISP1 LRRK2 HTRA2 DCC TSHZ1 SMCHD1 ADCY3 PROKR2 CEP290 VPS35 ZIC2 FLRT3 DNAJC13 LZTFL1 EIF4G1 PINK1 PRKN SLC39A14 FEZF1 PODXL PROK2 PARK7 CHD7 HESX1 GBA SNCA NSMF SOX10 SCP2 PTPN11 SPRY4 DDX6 GIGYF2 UCHL1 SYNJ1 HP_DEVIATED_NASAL_SEPTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVIATED_NASAL_SEPTUM NF1 PAH CREBBP EP300 NONO HP_ABNORMALITY_OF_THE_PULMONARY_ARTERY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PULMONARY_ARTERY MYT1L RPL10 A2ML1 KMT2E CCDC32 GTF2I ARHGAP31 MGP STRA6 RIT1 RBPJ EOGT CCNQ GTF2IRD1 LMNA KRAS RTL1 RAF1 FADD NTNG1 GATA4 BCOR ESS2 SLC2A10 WDFY3 FOXF1 SNAI2 ARSL NOTCH2 MYH7 NAA10 IFT43 CBL SLC12A2 TBX1 ZEB2 TNFSF11 SOS2 GRIA4 GATA6 SNX10 EFEMP2 ACTL6B METTL27 KCNMA1 TBL2 SOS1 GDF1 DGCR8 CLCN7 CRTAP OTUD5 HUWE1 TRAIP NRAS HS2ST1 BPTF PUS7 PTPN23 BRAF UBR7 PAX6 NKX2-5 PPP1CB PIGN MEG3 DVL3 COL5A1 RLIM NCF1 ACTL6A RFC2 MAPK8IP3 HPDL COL3A1 DNAJC30 TTC37 B3GLCT POLA1 PIGL BMPR2 BCORL1 EDNRB RRAS2 KDM4B PSMD12 FGFR1 UBE2A BCL7B AGO2 TLL1 TYR PALS1 JARID2 PTPN11 LIFR NODAL ZMIZ1 WRN CLIP2 WNT4 WASF1 ABHD11 ITPR1 PKD1L1 DGCR2 ELN EIF4H LAT2 STX1A TRIP12 JAG1 SVBP RRAS TMEM94 FBN1 TANC2 FBLN5 MED27 AGGF1 MLXIPL KITLG FLT4 BUD23 DGCR6 TGFBR1 CNOT3 LIMK1 TCF20 CLDN3 AASS BAZ1B SKIV2L MITF KAT8 NKX2-6 DPYSL5 DLL4 BCL11B DDX6 MED13 MRAS LZTR1 NTNG2 MMP21 PIGO LTBP4 GTF2IRD2 TGFBR2 DOCK3 NOTCH1 TCIRG1 FKBP6 PLXND1 CLDN4 RASA2 DOCK6 HTT VPS37D TNRC6B CRELD1 SOX10 TRMT1 GPC6 TMEM270 TRAPPC4 SATB1 FBXW11 SMG8 DLK1 BGN MADD HP_PULMONARY_ARTERY_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_ARTERY_STENOSIS CCNQ BAZ1B RPL10 SKIV2L A2ML1 PTPN11 GTF2I ARHGAP31 MGP NKX2-6 NRAS RIT1 GTF2IRD1 GATA6 WRN ELN BCL11B SLC2A10 CLIP2 KRAS RTL1 MRAS WNT4 ABHD11 RAF1 NKX2-5 GATA4 BCOR LZTR1 PPP1CB PIGN PIGO MEG3 FOXF1 LTBP4 GTF2IRD2 ARSL EIF4H NOTCH2 LAT2 NAA10 IFT43 STX1A NCF1 CBL TCIRG1 RFC2 FKBP6 PLXND1 JAG1 RRAS CLDN4 RASA2 DNAJC30 TTC37 VPS37D TNFSF11 SOS2 FBLN5 POLA1 PIGL MLXIPL RRAS2 BUD23 SNX10 GPC6 TMEM270 FGFR1 UBE2A EFEMP2 METTL27 BCL7B TBL2 SOS1 ZEB2 DLK1 CLCN7 LIMK1 CLDN3 HP_PRECOCIOUS_ATHEROSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRECOCIOUS_ATHEROSCLEROSIS LMNA ABCG5 APOA5 LDLR ABCG8 LDLRAP1 TNXB CYP27A1 APOB PCSK9 HP_INTERMITTENT_CLAUDICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERMITTENT_CLAUDICATION XYLT1 XYLT2 MPL JAK2 AGXT TET2 ABCC6 HP_THROMBOPHLEBITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THROMBOPHLEBITIS PTEN PROS1 HABP2 AKT1 PROC F13A1 MTHFR TGFB2 SERPINC1 F2 HP_RECURRENT_THROMBOPHLEBITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_THROMBOPHLEBITIS TGFB2 HABP2 SERPINC1 F2 F13A1 MTHFR HP_ARTERIAL_THROMBOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTERIAL_THROMBOSIS PROS1 TP53 AKT1 MYH7 FAS P4HA2 UBAC2 IL10 HLA-B MPL IL23R IL12A PTPN22 SERPINC1 JAK2 THPO CBS CALR HLA-DRB1 TET2 PTEN ERAP1 SH2B3 MEFV CCR1 KLRC4 STAT4 TLR4 FCGR2C IL12A-AS1 PIGA C4A HP_ELEVATED_SYSTOLIC_BLOOD_PRESSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_SYSTOLIC_BLOOD_PRESSURE NOS3 ADD1 AGTR1 FLT1 GNB3 AGT PTGIS CYP3A5 STOX1 AVPR2 CORIN ECE1 HP_BIPARIETAL_NARROWING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIPARIETAL_NARROWING CC2D2A TCTN1 KIF7 TMEM67 RPGRIP1L KIAA0586 AHI1 B9D1 TMEM138 KRAS MCOLN1 ARMC9 MKS1 INPP5E OFD1 TUBGCP6 TMEM237 ZNHIT3 TUBGCP4 CPLANE1 SC5D TCTN2 MAP2K1 GATA4 KIF1A TCTN3 PDE6D HNRNPU DHCR7 HYLS1 HRAS MEIS2 CEP41 SUFU CSPP1 PTEN ANKRD11 TMEM216 XRCC4 CEP120 BRAF TMEM231 LIG4 FAM149B1 NRAS PLK4 KIAA0753 ARL13B CEP104 CEP290 NPHP1 KATNIP CD96 PIBF1 ZNF423 CBY1 ARL3 MAP2K2 CUL4B HP_FLAT_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLAT_FOREHEAD LRP5 IARS2 CAMK2G KCNH1 B4GALT7 FGFR2 TWIST1 KNSTRN PIK3CD RECQL4 EXT2 COG7 IL11RA CHST14 HP_ABNORMALITY_OF_THE_CHEEK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CHEEK PSPH TBX1 TFAP2A ZNHIT3 ALX3 MAFB BCOR EYA1 KRAS TMEM231 FBLN5 KIF11 KIF7 KMT2D INTS1 TECPR2 JAG1 DPM1 TUBB4A PIK3CA SC5D RAB23 GNAS GATA4 GPR101 TCTN3 DDB1 AGL ELMO2 EIF2S3 IDUA NSD2 GNAI3 TRMT10A IDS SPTBN1 PLCB4 IER3IP1 FGFR1 EDN1 NEK9 GATA5 ANKRD11 TXNL4A TCTN1 ACTB EXTL3 TCOF1 CYP26C1 ATP6V0A2 ALX1 XYLT2 STX16 LRP1 SNX14 CSPP1 ZFPM2 ACTG1 AIP ELN NKX2-5 CDK5 FLT4 SYK EFEMP2 GPC4 SHANK3 SEMA3E ARID1B MAP3K7 MAP2K2 NKX2-6 ALDH18A1 WDR26 PAX1 IRX5 PPP1R15B SALL1 UBE3B SON SETD1B HSPG2 WDR19 STXBP1 PIGS PCLO PPP1CB PIGN SPECC1L HNRNPU SLC37A4 EFTUD2 GPC3 SH3PXD2B CTNND2 EXT2 RPGRIP1L HK1 FGFRL1 MED13L TGDS CPLX1 TAFAZZIN TMEM67 IFT122 CREBBP B9D1 ASXL1 ANK1 SVBP MSL3 COL2A1 B3GLCT MOCS1 HNRNPK PIGQ FBN1 AEBP1 LMNA FN1 NOTCH2 PRMT7 SLC26A2 KCNJ2 CHD7 UBE2A WAC FGFR2 OCRL SEMA5A TXNDC15 TASP1 SETD1A IFT52 CHN1 TMEM237 SIX1 TMEM107 GATA6 ZPR1 BICRA CTBP1 POLR1D NGLY1 PIGB KMT2E SOX11 GDF1 PURA IARS1 WDR35 SH3BP2 KLLN GSC LETM1 SLC29A3 WBP11 DLK1 ATP7A RPGRIP1 EIF2AK3 KLHL7 LMX1B STAG2 CRLF1 HRAS KDM6A KIDINS220 MITF CITED2 PSMC3 B9D2 EP300 BRAF MOCS2 AFF4 TMEM260 SLC35A2 SIX5 POLR1B MLXIPL MTX2 CCDC22 EDNRA TBL1XR1 LRP5 DPYD MKS1 KAT6A SALL4 TBCE CPE DACT1 KDM6B SF3B4 TMEM216 TCF4 FGF3 ODC1 FLNA NALCN SIM1 CLCF1 BMP2 VPS33A H1-4 SNRPN MAP2K1 CC2D2A NRAS KIF1A AUTS2 NAA10 PUF60 ZNF462 YARS1 MEG3 LARS1 POLR1C KCNH1 GJA5 FLNB VPS13B PCNT RTL1 TCTN2 WASHC5 CCDC88A CEP290 KAT6B HP_ELFIN_FACIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELFIN_FACIES BAZ1B LAT2 STX1A NCF1 GTF2I RFC2 FKBP6 INSR GTF2IRD1 FARSA CLDN4 DNAJC30 VPS37D CLIP2 MLXIPL ABHD11 BUD23 TMEM270 ELN METTL27 BCL7B TBL2 GTF2IRD2 CYP24A1 HEPHL1 LIMK1 CLDN3 EIF4H HP_RECURRENT_VIRAL_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_VIRAL_INFECTIONS UNC93B1 IGHM RAG1 SRP54 GFI1 FLI1 STK4 CTPS1 KNSTRN GATA2 MBL2 MAGT1 EPG5 NFKB2 DCLRE1C CD247 PNP CIITA CYBB BTK DOCK8 RAG2 ZAP70 NHEJ1 UNC119 RALGAPA1 WAS RFXANK CD3E TPP2 CD8A DNAJC21 RFXAP JAK1 BLM IL7R IL2RG ELANE EFL1 FCGR3A RFX5 SBDS TYK2 CD3D MALT1 RMRP TCIRG1 CASP8 STAT1 ADA IRF9 PIK3CD MCM4 SP110 PGM3 JAK3 RNF168 IL2RA BTD HP_SEVERE_COMBINED_IMMUNODEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_COMBINED_IMMUNODEFICIENCY DCLRE1C IL7R RAG1 XRCC4 ADA LIG4 BCL11B PRKDC IL2RG RAG2 JAK3 TTC7A RMRP MTHFD1 CHD7 AK2 PTPRC PGM3 PNP EXTL3 HP_AGAMMAGLOBULINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGAMMAGLOBULINEMIA SH3KBP1 IGHM BLNK BTK TCF3 IKBKB LRRC8A IGLL1 PIK3R1 TIMM8A IL2RG CD79A CD79B CDCA7 RFX5 HELLS RFXANK CIITA RFXAP HP_CRANIAL_HYPEROSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRANIAL_HYPEROSTOSIS SOST HNRNPA1 GJB6 LRP5 PTDSS1 THOC2 AKT1 FLNA ALMS1 GJA1 ABCC9 ERCC5 PTEN ANKH GNAS ERCC3 AMER1 NOTCH3 TNFSF11 XPA SMAD4 TCIRG1 LRP4 COL1A1 COX4I2 PIK3CA TNFRSF11A MAN2B1 TNFRSF11B ERCC4 ERCC2 KRAS XPC PRKAR1A VCP IDUA TBXAS1 SLC39A14 CA2 DDB2 B3GALT6 RPS6KA3 SLC29A3 HNRNPA2B1 FGFR1 HP_CRANIOFACIAL_DYSOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRANIOFACIAL_DYSOSTOSIS POLR1C EFTUD2 FGFR2 ALX4 PDE4D EDNRA PRKAR1A SLC25A24 RPS26 MSX2 HP_CORONAL_CRANIOSYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORONAL_CRANIOSYNOSTOSIS P4HB FGFR2 ZEB2 SEC24D POLA1 FGFR1 FGFR3 SLC25A24 RAB23 SCUBE3 ZIC1 MASP1 BPNT2 EFNB1 POR PIGO CEP120 TWIST1 RECQL4 ALX4 MSX2 GTF2E2 IL11RA CCBE1 HP_SAGITTAL_CRANIOSYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SAGITTAL_CRANIOSYNOSTOSIS CDC45 TBC1D24 RAB23 FGFR2 IFT122 IFT43 DPF2 RECQL4 WDR19 HNRNPK GLIS3 ZIC1 SON ATP6V1B2 DPH1 IL11RA KRAS HP_LAMBDOIDAL_CRANIOSYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LAMBDOIDAL_CRANIOSYNOSTOSIS RAB23 RAC3 FGFR2 ZIC1 ERF MASP1 POR TWIST1 SEC24D RECQL4 BMP4 HNRNPK IL11RA KRAS HP_SPHEROCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPHEROCYTOSIS SLC4A1 SPTA1 EPB42 RHAG RHCE SPTB ANK1 RHD HP_ELLIPTOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELLIPTOCYTOSIS AMMECR1 NHLRC2 EPB41 SPTB GATA1 ACSL4 TRNT1 SPTA1 GYPC SLC4A1 KCNE5 HP_STOMATOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STOMATOCYTOSIS SLC4A1 RHAG SLC2A1 ERF ABCB6 RHCE GYPC GP1BA EPB41 RHD SPTA1 ABCG8 SPTB HP_POIKILOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POIKILOCYTOSIS CFHR1 PANK2 RHAG SLC4A1 CDAN1 GATA1 SLC2A1 NHLRC2 ERF SPTB UMPS CFH CDIN1 ABCB6 UROS ANK1 GYPC GP1BA SLC19A1 EPB41 TMPRSS6 EPB42 AMMECR1 ABCG8 CALR MTTP ADAMTS13 KCNE5 MPL SC5D TRNT1 G6PD TET2 CAD CUBN CRIPT MPIG6B STEAP3 SPTA1 KIF23 AMN TOR1A KCNN4 PIEZO1 JAK2 CASK VPS13A SAR1B ACSL4 HBB RHCE XK CFHR3 APOB PKLR RHD CYP4F22 HP_FULMINANT_HEPATIC_FAILURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FULMINANT_HEPATIC_FAILURE XIAP SH2D1A GFM1 HADH IL18BP HP_ABNORMALITY_OF_THE_MIDDLE_EAR_OSSICLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MIDDLE_EAR_OSSICLES NOG SETBP1 ABCC6 POU3F4 COL1A1 IDS SIX5 SIX1 ENPP1 GJB2 NOTCH3 PSMD12 GDF6 GJB6 TFAP2A EYA1 COL1A2 BPTF HP_OVERFOLDING_OF_THE_SUPERIOR_HELICES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERFOLDING_OF_THE_SUPERIOR_HELICES PLCB4 GNAI3 BICRA FGFR2 SALL1 HP_DILATATED_INTERNAL_AUDITORY_CANAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DILATATED_INTERNAL_AUDITORY_CANAL EYA1 SIX1 POU3F4 GJB6 GJB2 HP_ABSENT_BRAINSTEM_AUDITORY_RESPONSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_BRAINSTEM_AUDITORY_RESPONSES SPTBN4 ERCC8 OPA1 ERCC6 SOX10 NEFL MOGS TIMM8A ERCC4 OTOF HP_CHRONIC_BRONCHITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_BRONCHITIS DNAAF11 CCDC40 ODAD2 ZBTB24 SCNN1B CARMIL2 ZMYND10 RSPH4A CCDC65 CFAP298 SCNN1G ALMS1 DNAAF5 SERPINA1 CFTR SCNN1A CCDC39 RAC2 DNMT3B ODAD3 SPAG1 HP_APLASIA_CUTIS_CONGENITA_OVER_THE_SCALP_VERTEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_CUTIS_CONGENITA_OVER_THE_SCALP_VERTEX BMS1 DLL4 PLEC ITGB4 MCTP2 HP_PROGRESSIVE_MACROCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_MACROCEPHALY NDUFS4 AKT1 PTEN GCDH GFAP PIK3CA HP_RELATIVE_MACROCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RELATIVE_MACROCEPHALY PALS1 JARID2 NXN USP9X TENT5A MYT1L KMT2E KDELR2 CCDC32 ACER3 ZMIZ1 POLE TRIP11 APC2 WASF1 APC PCGF2 NTNG1 SHOC2 SERPINH1 WDFY3 RTL1 IGF2 THRA ACAN ITCH DHCR24 BRAF XYLT1 HMGA2 MBTPS2 SON TRIP12 NONO MRAS SLC12A2 SVBP CDKN1C TANC2 SNX14 MED27 H19 GRIA4 NF1 CNOT3 ACTL6B KCNMA1 TCF20 HUWE1 KAT8 DPYSL5 OBSL1 HS2ST1 SATB2 POLR3A BPTF USP7 PLAG1 IHH PUS7 DDX6 PTPN23 MED13 UBR7 MEG3 NTNG2 PPP1CB ZMPSTE24 CEP120 LMNA TONSL DOCK3 RLIM ACTL6A VPS35L POP1 MAPK8IP3 HPDL PTDSS1 HTT DPH1 BCORL1 DLK1 FH KDM4B LZTR1 TNRC6B PSMD12 TRMT1 TRAPPC4 SATB1 FBXW11 AGO2 IFT81 BGN CUL4B MADD RIT1 HP_CRANIOFACIAL_ASYMMETRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRANIOFACIAL_ASYMMETRY CPLX1 NSD2 CTBP1 FGFRL1 MAF LETM1 HP_CESSATION_OF_HEAD_GROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CESSATION_OF_HEAD_GROWTH EIF2B2 EIF2B5 EIF2B1 UBE3A EIF2B3 EIF2B4 ATP10A OCA2 PLAA SNRPN HP_MACROCEPHALY_AT_BIRTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROCEPHALY_AT_BIRTH MYF6 SLC16A2 RYR1 ODC1 MTMR14 DNM2 PIGN BIN1 HP_CALVARIAL_HYPEROSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALVARIAL_HYPEROSTOSIS PTEN PRKAR1A HNRNPA1 VCP HNRNPA2B1 IDUA AKT1 COL1A1 COX4I2 SLC39A14 HP_LARGE_POSTERIOR_FONTANELLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_POSTERIOR_FONTANELLE TSHR POU1F1 PAX8 LHX3 DUOX2 GPX4 DUOXA2 IYD PROP1 HESX1 LHX4 TG SLC5A5 INTU TSHB TPO HP_WIDELY_PATENT_FONTANELLES_AND_SUTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDELY_PATENT_FONTANELLES_AND_SUTURES CYP2R1 ACE AGTR1 REN VDR POLR3A SETBP1 RBM10 MSX2 LMNA SLC34A3 MED12 ALPL ZMPSTE24 PEX1 CYP27B1 AGT HP_CRANIOFACIAL_HYPEROSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRANIOFACIAL_HYPEROSTOSIS SOST TNFRSF11A GJB6 LRP5 PTDSS1 GNAS ERCC4 FLNA ERCC2 KRAS XPC GJA1 TBXAS1 ABCC9 AKT1 ERCC5 DDB2 ANKH B3GALT6 ERCC3 AMER1 RPS6KA3 NOTCH3 XPA SLC29A3 SMAD4 TCIRG1 LRP4 FGFR1 HP_PANCREATIC_ISLET_CELL_HYPERPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_ISLET_CELL_HYPERPLASIA FAH LBR HNF4A ABCC8 GPC4 SLC16A1 DIS3L2 KCNJ11 GPC3 INSR UCP2 GCGR HP_SCARRING_ALOPECIA_OF_SCALP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCARRING_ALOPECIA_OF_SCALP LAMA3 EBP LAMC2 MBTPS2 GATA1 ITGB4 RHOA UROS COL17A1 PLEC UROD CLDN1 GJB2 LAMB3 HP_GENERALIZED_HYPERTRICHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_HYPERTRICHOSIS SETBP1 KCNH1 KCNN3 NEU1 ATP6V1B2 HP_SEVERE_PLATYSPONDYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_PLATYSPONDYLY PAM16 FGFR3 INPPL1 PCYT1A COL2A1 EXTL3 HP_BEAKING_OF_VERTEBRAL_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BEAKING_OF_VERTEBRAL_BODIES DYM NF1 NPR2 B3GALT6 COMP SERPINF1 GUSB SH3PXD2B COL2A1 GLB1 NEPRO GNPTAB AGA PYCR1 FUCA1 CCN6 FLNB TMCO1 GORAB PLCB3 COL11A2 RSPRY1 RINT1 EXOC6B HP_INCREASED_VERTEBRAL_HEIGHT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_VERTEBRAL_HEIGHT OBSL1 MAN2B1 CUL7 FGFR3 NOTCH2 CCDC8 ITCH TRPV4 PPP1R15B HP_SCLEROTIC_VERTEBRAL_ENDPLATES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCLEROTIC_VERTEBRAL_ENDPLATES DMP1 CLCN7 SOST CCN6 ENPP1 HP_BICONCAVE_VERTEBRAL_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BICONCAVE_VERTEBRAL_BODIES TENT5A KDELR2 MBTPS2 USP8 SERPINF1 NOTCH3 TRAPPC2 AIP ZBTB20 PYCR1 COL2A1 COL1A1 FKBP10 IDUA COL1A2 GORAB NANS FN1 NOTCH2 KIF22 CBS IFITM5 TONSL NMNAT1 HP_ABSENT_OR_MINIMALLY_OSSIFIED_VERTEBRAL_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_OR_MINIMALLY_OSSIFIED_VERTEBRAL_BODIES DYNC2I1 DYNC2I2 LBR WDR35 FLNB BMPER VPS35L IFT80 TRIP11 SOX9 COL2A1 DYNC2H1 ALPL SLC26A2 HP_CERVICAL_C2_C3_VERTEBRAL_FUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CERVICAL_C2_C3_VERTEBRAL_FUSION MEOX1 GDF6 AFF4 MYO18B GDF3 DKK1 HP_BICONVEX_VERTEBRAL_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BICONVEX_VERTEBRAL_BODIES RNU4ATAC COL2A1 TRIP11 FN1 RMRP HP_LUMBAR_SCOLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LUMBAR_SCOLIOSIS ATG7 TBC1D24 NIN LONP1 COL2A1 ATP6V1B2 RPL10 ALMS1 PAPSS2 HP_DECREASED_CERVICAL_SPINE_FLEXION_DUE_TO_CONTRACTURES_OF_POSTERIOR_CERVICAL_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CERVICAL_SPINE_FLEXION_DUE_TO_CONTRACTURES_OF_POSTERIOR_CERVICAL_MUSCLES SYNE1 LMNA SYNE2 PLEC EMD FHL1 TMEM43 HP_DECREASED_CERVICAL_SPINE_MOBILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CERVICAL_SPINE_MOBILITY OTX2 POMT1 POU1F1 LHX4 LHX3 FKRP PROP1 POMT2 HESX1 FOXA2 CCN6 TRAPPC2 GLI2 LARGE1 GMPPB HP_DECREASED_FACIAL_EXPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_FACIAL_EXPRESSION MAPT MRE11 MYL1 PANK2 SLC6A3 KCNH1 TK2 ATP6AP2 TPM3 KNSTRN DNA2 TECPR2 DMXL2 POLG SNCAIP PURA SYNJ1 FBXO7 CC2D1A PRNP ATXN8OS ITPR1 SLC18A2 SLC6A8 DNAJC6 DNMT3B SPR MYH3 DPM2 FTL PIEZO2 ADH1C ACTA1 PLA2G6 ATP7A MTM1 KMT2D RYR1 MYH7 MYL2 HOXB1 STAC3 HLA-DQB1 VAMP1 NEB TXNL4A EIF4G1 SLC39A14 SLC30A10 DLK1 PABPN1 TANGO2 TRIM32 MSTO1 FKTN JAM2 POLG2 ASXL3 ATP1A3 KLHL41 GBA POMT2 PLXND1 UBA1 GIPC1 PIK3CD RTL1 GIGYF2 SMCHD1 PDGFRB SLC6A9 BCL11B SPTBN4 MYH2 ATP6V1A HACD1 DCTN1 ATP13A2 NR4A2 SLC16A2 SLC52A3 PYROXD1 SNCA HSPG2 PLAA EBF3 SGCB ATXN2 CCDC174 PAX6 LAMA2 FA2H ERGIC1 RIPK4 TPM2 FMR1 VPS41 POMT1 GFM2 SELENON KCNJ6 FKRP VPS35 PDGFB UBA5 TAFAZZIN GLUD2 GLE1 DUX4 KDM6A TWNK DNAJC13 TBP GMPPB CERT1 KCNK9 LRRK2 PODXL MEG3 RRM2B MAP3K20 REV3L TH EIF2AK2 SLC25A4 SLC20A2 LARGE1 UBE3A FRG1 LRP12 ITGA7 HP_TALIPES_VALGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TALIPES_VALGUS SCN1A EXT1 STX1B ADGRV1 LIFR MAN2B1 CHMP1A HCN1 SCN1B SCN9A GABRG2 RAB3GAP2 CARS1 SCN2A GABRD NONO EXT2 HP_SHORT_FOURTH_METATARSAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_FOURTH_METATARSAL PHYH PEX7 RSPRY1 HEPHL1 DCHS1 LZTFL1 PIGS PRMT7 EZH2 FAT4 HP_2_3_TOE_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_2_3_TOE_SYNDACTYLY MID2 ZMIZ1 RAI1 SATB1 SMAD4 FGFR2 EBP ARHGEF6 MYCN RAB39B CDC45 BBS7 TRIO BMPR1B FGFR1 BCOR GDI1 NSD1 FBXW11 ZNF41 RPS6KA3 HEPHL1 NIPBL ALG13 SLC9A7 ZNF81 MECP2 TXNL4A USP27X FRMPD4 BMP2 AGTR2 PTCHD1 DHCR7 SETD2 UBE2A TP63 APC2 ARX FTSJ1 PAK3 SOX5 TSPAN7 CNOT2 SHMT2 CSGALNACT1 MED12 NEDD4L SYT1 MEIS2 PSMD12 LMBR1 PIGY SLC12A6 IQSEC2 CLCF1 STEEP1 KCNJ2 RBPJ POLR3A TBX15 SALL1 HOXD13 SLC12A2 TTI2 SHANK3 MAN1B1 SYP GDF5 IL1RAPL1 TBCK SIK3 DLG3 NOG BHLHA9 ARCN1 UPF3B CTCF ADNP RALA USP9X SETD5 STAG1 GNE DDX11 CLCN4 CERT1 FDFT1 PUF60 KCNJ5 HCFC1 CEP55 PDE6D KCTD1 DMD MED25 IFT43 DDX6 ACSL4 ZNF711 IL11RA CNKSR2 HP_4_5_TOE_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_4_5_TOE_SYNDACTYLY HOXD13 MYCN RBBP8 TELO2 TBX15 HP_RENAL_MALROTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_MALROTATION FIBP RBM8A SALL4 SIX1 PAX2 EYA1 STRA6 HP_CALCIUM_NEPHROLITHIASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALCIUM_NEPHROLITHIASIS SLC36A2 HOGA1 SLC6A19 ADCY10 GRHPR SLC26A1 OPLAH SLC34A2 SLC6A20 SLC34A3 AGXT HP_IMPAIRED_RENAL_CONCENTRATING_ABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_RENAL_CONCENTRATING_ABILITY FAM20A CLCNKA BSND CLCNKB CEP290 HP_RENAL_CORTICAL_MICROCYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_CORTICAL_MICROCYSTS NEK8 TTC37 PEX1 PEX2 INVS HP_CROSSED_FUSED_RENAL_ECTOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CROSSED_FUSED_RENAL_ECTOPIA WT1 SALL4 APC KDM6A KMT2D LRP4 DDX59 DACT1 HP_ABNORMAL_RENAL_COLLECTING_SYSTEM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_COLLECTING_SYSTEM_MORPHOLOGY PIGY SIX1 OTUD5 KDM6A PIGA FANCC TELO2 TP63 JAG1 FANCD2 PIGL LAMA3 SUCLG1 IARS1 EYA1 LAMB3 PIGN SHOC2 FANCE MAPK1 TNXB LAMC2 RTTN POGZ KMT2D FANCA HP_ATRIAL_FLUTTER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATRIAL_FLUTTER CRELD1 NR2F2 LMNA SCN5A GATA4 TBX20 CLIC2 CITED2 SCN3B GATA6 NUP155 NKX2-5 MT-CYB DMPK ACTC1 TLL1 SGO1 PRKAG2 TNNI3K MYH6 HP_PAROXYSMAL_VENTRICULAR_TACHYCARDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAROXYSMAL_VENTRICULAR_TACHYCARDIA JUP KCND3 GNAI2 CACNA1C HCN4 TRPM4 SLMAP CACNA2D1 SEMA3A SCN2B RANGRF KCNE3 PKP2 SCNN1A ABCC9 CACNB2 SCN5A GPD1L SCN3B SCN10A AKAP9 SCN1B KCNE5 KCNJ8 HP_SUPRAVENTRICULAR_TACHYCARDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPRAVENTRICULAR_TACHYCARDIA NAA10 SCN5A RYR1 GATA4 KCND3 TBX20 BMP2 CACNA1C HCN4 TRPM4 SLMAP ACTN2 CITED2 MYL2 CACNA2D1 FLAD1 GATA6 SEMA3A SCN2B DNMT3A NKX2-5 RANGRF SLC19A2 MT-CYB DMPK KCNE3 PKP2 ACTC1 TLL1 SCNN1A CACNA1S ABCC9 CACNB2 GPD1L SCN3B LMNA TNNI3K SCN10A AKAP9 SCN1B KCNE5 MYH6 KCNJ8 HP_VENTRICULAR_TACHYCARDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULAR_TACHYCARDIA JUP SLC25A20 TECRL KCNJ2 RYR2 KCND3 CACNA1C CALM1 CACNA2D1 CASQ2 NDUFB11 MYOZ2 SEMA3A SCN2B ABCC9 SLC12A3 SCN5A TRDN TPM1 NPPA TMEM43 PKP2 ACADVL JPH2 CPT2 CACNA1S CALM3 CACNB2 GPD1L CSRP3 DSP SCN10A AKAP9 CDH2 CALM2 HLA-DRB1 KCNJ8 HCN4 NAA10 RYR1 GYG1 GNAI2 BTNL2 KCNJ5 TRPM4 SLMAP TANGO2 MYL2 RANGRF TTN MT-CYB KCNE3 SCNN1A CTNNA3 SCN3B DSG2 SCN1B KCNE5 HP_PAROXYSMAL_ATRIAL_FIBRILLATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAROXYSMAL_ATRIAL_FIBRILLATION SCN2B MYL4 KCNE2 SCN5A RYR2 TRDN ABCC9 KCNA5 KCNH2 KCNJ2 PRKAG2 GJA5 CSRP3 GNB2 CASQ2 KCNJ5 TBX5 SCN1B LRP12 HP_LACTOSE_INTOLERANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACTOSE_INTOLERANCE MTOR MCM6 SATB1 PGM3 LCT HP_ESOPHAGEAL_ULCERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESOPHAGEAL_ULCERATION CTHRC1 COL7A1 MMP1 ASCC1 PLA2G4A MSR1 HP_MALROTATION_OF_SMALL_BOWEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALROTATION_OF_SMALL_BOWEL WNT4 CPLX1 NSD2 CTBP1 FGFRL1 CHST14 DSE LETM1 HP_GASTROINTESTINAL_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROINTESTINAL_OBSTRUCTION EDN3 MYH11 SDHD TENT5A KDELR2 PRTN3 SEMA3C CDKN2A BRCA2 PDGFRA HLA-DPA1 EDNRB SDHC APC SMO TP53 HMBS IL6 CTNNB1 ERBB3 ERCC2 EXT1 FAH NOTCH3 NOD2 ERBB2 JAK3 F5 WT1 SLC6A8 MNX1 RET SMAD4 FCGR2A FOXP3 PALLD RABL3 GUCY2C BRCA1 CFTR GDNF PTPN22 TBCE SDHB SEMA3D MBTPS2 JAK2 ATP7A SREBF1 HLA-DPB1 KIT MITF EWSR1 TGFB1 SDHA MYC NRTN STK11 PPOX PDGFRB MTRFR CAVIN1 MVK ABCD1 SOX10 ECE1 CD55 KRAS CTLA4 MEFV PALB2 TNFRSF1A EXT2 HP_RECURRENT_INFECTION_OF_THE_GASTROINTESTINAL_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_INFECTION_OF_THE_GASTROINTESTINAL_TRACT ADAT3 ADAM17 SH3KBP1 COG4 DCLRE1C SRP54 MAN2B1 GFI1 CORIN RFXAP SLC35C1 FLT1 NFKB2 EGFR BLM ELANE VPS33A NBN STOX1 CD3E RFX5 NFKBIA CIITA CARMIL2 IFNGR1 TNFRSF13B CD3G IL21R ZAP70 TCIRG1 FOXP3 IRF9 SP110 JAK3 AICDA RFXANK HP_CONGENITAL_HEMOLYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_HEMOLYTIC_ANEMIA GYPC EPB41 PKLR SLC4A1 KCNN4 PIEZO1 SPTA1 SPTB HP_ACUTE_MYELOID_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_MYELOID_LEUKEMIA RPS28 RPL11 BRCA2 TET2 DNMT3A RPS15A SH3GL1 SRP54 RPL27 GFI1 CHIC2 ADA2 RPL18 KRAS CHEK2 JAK2 RPS20 THPO KIT RPL5 RPL31 DNAJC21 MPL CBFB RPL35 SBDS CEBPA LPP RPL35A NPM1 RPS29 RUNX1 RPS10 GATA1 RPS26 FLT3 ETV6 DKC1 DDX41 RPL26 TP53 NUP214 BLM RPL15 SF3B1 ELANE EFL1 GATA2 TSR2 RPS19 SAMD9 RPS14 CDKN2A PICALM RPS7 ADH5 MLLT10 SRSF2 MDM2 TCIRG1 MEFV RPS17 RPS27 ASXL1 TERT RPS24 ERBB3 SAMD9L HP_NEONATAL_ALLOIMMUNE_THROMBOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_ALLOIMMUNE_THROMBOCYTOPENIA ITGA2B ITGB3 GP1BA RNASEH2C RNASEH2B RNASEH2A GP1BB ADAR ITGA2 TREX1 IFIH1 SAMHD1 CD109 HP_ANISOPOIKILOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANISOPOIKILOCYTOSIS KCNN4 SC5D CAD CUBN CRIPT MPIG6B STEAP3 HBB AMN HP_HYPOCHROMIC_MICROCYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCHROMIC_MICROCYTIC_ANEMIA KARS1 HBB ATRX SHPK ALAS2 HBA2 TRNT1 TMPRSS6 C2orf69 LPIN2 DNAJC19 CP ABCB7 HBA1 HP_REDUCED_FACTOR_XII_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_FACTOR_XII_ACTIVITY PTPN11 F12 MAP2K1 BRAF MGAT2 HP_COOMBS_POSITIVE_HEMOLYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COOMBS_POSITIVE_HEMOLYTIC_ANEMIA PRKCD CASP10 TNFRSF4 FOXP3 FAS FASLG SOCS1 RASGRP1 LAT HP_PROLONGED_BLEEDING_AFTER_SURGERY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_BLEEDING_AFTER_SURGERY VWF ITGA2B ITGB3 F8 GP1BA GP1BB P2RY12 F13B F7 F5 LMAN1 F13A1 GP9 MCFD2 SERPINE1 F10 HP_REDUCED_PROTEIN_S_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_PROTEIN_S_ACTIVITY PROS1 DPAGT1 MPI ALG12 DPM1 ALG6 HP_AMEGAKARYOCYTIC_THROMBOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMEGAKARYOCYTIC_THROMBOCYTOPENIA PTPN11 HOXA11 MPL MECOM MAP2K1 BRAF HP_IMPAIRED_ADP_INDUCED_PLATELET_AGGREGATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_ADP_INDUCED_PLATELET_AGGREGATION IKZF5 HPS6 ITGB3 CALR AP3B1 THPO P2RY12 SH2B3 HP_CHRONIC_HEMOLYTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_HEMOLYTIC_ANEMIA PKLR NHLRC2 SPTB TPI1 HBB ABCG8 HP_PERINEAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERINEAL_FISTULA CDK8 KDM6A TGFB1 RECQL4 KMT2D DACT1 PKP1 SALL1 SYK TCTN3 HP_INTERCOSTAL_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERCOSTAL_MUSCLE_WEAKNESS LAMA2 TRPV4 MAP3K20 SELENON TPM3 TPM2 HACD1 ACTA1 MYL2 ITGA7 HP_EPISODIC_RESPIRATORY_DISTRESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISODIC_RESPIRATORY_DISTRESS MT-TV MT-ND3 MT-ND2 MT-ND4 VAMP1 MT-ATP6 MT-TW SNAP25 SLC25A1 CHAT AGRN MT-TL1 MT-ND5 SLC18A3 SLC5A7 COL13A1 MT-ND1 MT-ND6 MT-TK SYT2 MYO9A HP_RESPIRATORY_FAILURE_REQUIRING_ASSISTED_VENTILATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_FAILURE_REQUIRING_ASSISTED_VENTILATION MYH11 DPYD GNPTAB POLR1B TRAF3 SLC25A46 AHDC1 TBK1 NDUFAF8 TRMU TFG TBCD BCHE HPDL UNC93B1 IGHMBP2 DMPK SMPD1 TLR3 MTM1 TICAM1 MT-TE CSF2RA TK2 PRPS1 ALAD GAA ARSL CSF2RB TSEN54 HP_INTERMITTENT_EPISODES_OF_RESPIRATORY_INSUFFICIENCY_DUE_TO_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERMITTENT_EPISODES_OF_RESPIRATORY_INSUFFICIENCY_DUE_TO_MUSCLE_WEAKNESS TTN VAMP1 MYH7 SNAP25 SLC25A1 CHAT AGRN SLC18A3 SLC5A7 COL13A1 CHRNA1 SELENON SYT2 MYO9A HP_ELEVATED_PULMONARY_ARTERY_PRESSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_PULMONARY_ARTERY_PRESSURE SPECC1L COLQ PDSS1 ENPP1 IRF5 ARHGAP31 MGP LIFR MT-TS1 ENG RBPJ MT-TL1 CAV1 COX5A EOGT KCNK3 FIG4 GBA SLC37A4 MT-ND6 COX7B HLA-DRB1 SMAD9 RTL1 SLC25A24 EIF2AK4 KIAA0319L TERT MMACHC MPL FOXF1 NFIX MYH6 LIPT1 MT-CO2 ACVRL1 MYH11 BANF1 KRT8 MT-TS2 SFTPA2 GATA6 KRAS COL1A1 AFF4 FGFR3 TNFSF11 NOD2 SMARCAL1 NKX2-5 MT-ND1 IL12B TBX20 BTNL2 IDUA CCR6 SNX10 MT-ND5 TLL1 COX8A KRT18 STAT1 MUC5B MLX NOTCH1 CLCN7 MT-TH FLNA NKX2-1 NF1 ABCD4 ABCC6 HLA-B NDUFB10 SFTPB MT-CO3 COG1 TBX4 DLL4 COL1A2 VPS33A JAK2 NFU1 CCN2 THPO HSPG2 MT-CO1 HBB LAMA2 PPCS NDUFA8 PIGN VAC14 ALMS1 ZNF699 CTCF MEG3 ZMPSTE24 MED12 ATP5F1A SLC29A3 LMNA MT-TF SMAD4 CACNA1D SFTPC IKBKG TCIRG1 BMPR2 GATA4 MT-TQ PAM16 CITED2 DOCK6 CHST3 SARS2 GDF2 FBN1 FOXP1 GJA1 MT-TW ACTA2 COX6B1 LAMB2 ACTC1 RPL3L SCARB2 UBE2A G6PC3 MED25 DLK1 MT-ND4 FGFR1 HP_SEVERE_LACTIC_ACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_LACTIC_ACIDOSIS NDUFS4 SLC25A26 PDHA1 TRMU COX16 MT-TT PDSS2 MT-TE COQ2 HP_MATURITY_ONSET_DIABETES_OF_THE_YOUNG http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MATURITY_ONSET_DIABETES_OF_THE_YOUNG HNF1A PCBD1 APPL1 HNF4A PDX1 DLK1 PLAGL1 MEG3 KLF11 BLK NEUROD1 INS CEL ABCC8 RTL1 HYMAI HNF1B KCNJ11 GCK ZFP57 PAX4 HP_BICARBONATE_WASTING_RENAL_TUBULAR_ACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BICARBONATE_WASTING_RENAL_TUBULAR_ACIDOSIS SLC4A4 GATM NDUFAF6 EHHADH SLC34A1 HP_HYPOPHOSPHATEMIC_RICKETS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPHOSPHATEMIC_RICKETS HNF4A ABCC6 CTNS ENPP1 NRAS FGF23 DMP1 GATM SLC34A3 CLCN5 NDUFAF6 EHHADH NAB2 STAT6 FAH HRAS PHEX KRAS SLC34A1 HP_ABNORMAL_MAGNESIUM_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MAGNESIUM_CONCENTRATION CNNM2 PCBD1 GABRA3 CACNA1S TRPM6 ALDOB EGF FXYD2 TBCE KCNJ1 CLCNKB ATP1A1 CASR SLC12A1 GNA11 SARS2 KCNJ18 KCNJ10 SLC12A3 CLDN16 CLCNKA FOXP3 AP2S1 CLDN19 PLVAP BSND CLDN10 GCM2 HP_HYPERPHENYLALANINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPHENYLALANINEMIA PCBD1 PTS PAH GCH1 QDPR HP_ABNORMAL_ORAL_GLUCOSE_TOLERANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ORAL_GLUCOSE_TOLERANCE CEL PAX4 KLF11 KCNJ11 NEUROD1 ABCC8 INS HNF1A BLK HNF4A APPL1 SLC5A1 GCK PDX1 HP_ORTHOSTATIC_HYPOTENSION_DUE_TO_AUTONOMIC_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORTHOSTATIC_HYPOTENSION_DUE_TO_AUTONOMIC_DYSFUNCTION COQ2 DNAJC13 GBA EIF4G1 NTRK1 ARSA PSAP LRRK2 LEP GSN TTR GIGYF2 LMNB1 LEPR VPS35 SNCA HP_PULMONARY_ARTERY_DILATATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_ARTERY_DILATATION PALS1 JARID2 MYT1L KMT2E CCDC32 HUWE1 KAT8 DPYSL5 HS2ST1 BPTF ZMIZ1 PUS7 DDX6 PTPN23 MED13 UBR7 WASF1 NTNG1 NTNG2 WDFY3 FOXF1 TGFBR2 DOCK3 COL5A1 RLIM ACTL6A MAPK8IP3 TRIP12 HPDL SLC12A2 SVBP COL3A1 FBN1 TANC2 HTT MED27 BCORL1 GRIA4 KDM4B TNRC6B TGFBR1 PSMD12 TRMT1 EFEMP2 CNOT3 TRAPPC4 ACTL6B KCNMA1 SATB1 FBXW11 AGO2 TLL1 TCF20 BGN MADD HP_ABNORMALITY_OF_THE_PULMONARY_VASCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PULMONARY_VASCULATURE MYT1L RPL10 GDF1 A2ML1 KMT2E CCDC32 GTF2I ARHGAP31 MGP STRA6 LFNG CFAP221 RIT1 RBPJ EOGT VHL ODAD2 CCNQ GTF2IRD1 LMNA RIPPLY2 KRAS RTL1 EIF2AK4 RAF1 FADD NTNG1 GATA4 BCOR RSPO2 ESS2 SLC2A10 WDFY3 FOXF1 SNAI2 ARSL NOTCH2 MYH7 DHCR24 ACVRL1 MESP2 MYRF NAA10 IFT43 DNAJB13 CBL SLC12A2 TBX1 ZEB2 CCNO TNFSF11 DRC1 SOS2 GRIA4 FOXC2 GATA6 RPS15A SNX10 ODAD1 EFEMP2 ACTL6B METTL27 KCNMA1 TBL2 SOS1 RSPH3 DGCR8 CLCN7 CRTAP SPEF2 OTUD5 ENG HUWE1 TRAIP CCDC39 NRAS DLL3 HS2ST1 BPTF PUS7 PTPN23 BRAF UBR7 PORCN PAX6 NKX2-5 PPP1CB PIGN DNAH11 SFTPB MEG3 DVL3 CDC42 COL5A1 RLIM GAS8 NCF1 ACTL6A BMPR2 RFC2 MAPK8IP3 HPDL RSPH1 COL3A1 DNAJC30 TTC37 B3GLCT POLA1 PIGL BCORL1 EDNRB RRAS2 KDM4B PSMD12 NME8 FGFR1 UBE2A BCL7B DNAH5 ODAD4 RPGR AGO2 TLL1 DNAAF11 CFAP298 TYR HYDIN CITED2 PALS1 JARID2 CRELD1 PTPN11 LIFR DNAH1 NODAL RSPH4A ZMIZ1 WRN DNAAF2 CLIP2 WNT4 WASF1 ABHD11 DNAH9 ITPR1 PKD1L1 MCIDAS DGCR2 ELN DNAAF4 EIF4H TTC12 LAT2 DNAAF1 STX1A TRIP12 CFAP300 JAG1 SMAD4 SVBP RRAS TMEM94 FBN1 TANC2 CCDC65 TMEM260 FBLN5 FOXJ1 MED13L MED27 TBX5 HES7 SPAG1 AGGF1 MLXIPL KITLG FLT4 ZMYND10 BUD23 DGCR6 TGFBR1 DNAI1 SMC1A NEK10 CNOT3 LIMK1 TCF20 CLDN3 DNAL1 AASS GAS2L2 BAZ1B SKIV2L MITF KAT8 DNAI2 NKX2-6 DPYSL5 WT1 DNAAF6 DLL4 BCL11B DDX6 MED13 MRAS ODAD3 RSPH9 LZTR1 NTNG2 CCND1 MMP21 PIGO DNAAF3 LTBP4 CCDC40 CCDC103 WNT3 GTF2IRD2 TGFBR2 DOCK3 NR2F2 NOTCH1 TCIRG1 FKBP6 PLXND1 DNAAF5 CLDN4 RASA2 DOCK6 HTT VPS37D OFD1 TNRC6B SOX10 TRMT1 GPC6 TMEM270 TRAPPC4 SATB1 FBXW11 SMG8 DLK1 LRRC56 BGN STK36 MADD HP_ASCENDING_AORTIC_DISSECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASCENDING_AORTIC_DISSECTION MYLK SMAD3 TGFB3 COL3A1 SMAD2 TGFBR2 NKX2-5 PRKG1 MFAP5 ACTA2 FBN1 FOXE3 MYH11 LOX TGFBR1 GATA5 MAT2A NOTCH1 SMAD6 ELN HEY2 TGFB2 SMAD4 HP_VASCULAR_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VASCULAR_CALCIFICATION NT5E ABCC6 GALNT3 ENPP1 NKX2-5 RNASEH2C HGD ERCC6 ABCG5 SLC34A2 GBA SMAD6 LDLRAP1 IFIH1 SAMHD1 LDLR GATA5 ABCG8 RNASEH2B RNASEH2A SLC20A2 NOTCH1 APOB ADAR TREX1 STAT1 ERCC8 PDGFRB PCSK9 PDGFB HP_PULMONARY_ARTERY_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_ARTERY_ATRESIA ARHGAP31 NOTCH1 OTUD5 NKX2-6 GDF1 STRA6 RBPJ PLXND1 NODAL EOGT TBX1 FADD TMEM94 DOCK6 DLL4 NKX2-5 FLT4 CRELD1 DGCR6 PKD1L1 MMP21 DVL3 ESS2 DGCR2 DGCR8 HP_VENOUS_THROMBOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENOUS_THROMBOSIS PROC PRTN3 HBB ENG UBAC2 HLA-DPA1 IL23R KIF11 MET IDH1 CALR CPA1 TET2 PRSS2 MMACHC MEFV SPINK1 MPL CCR1 KLRC4 MTHFR THBD C4A F2 EPOR DAAM2 FAS F9 PLAT HLA-B PROS1 JAK2 AKT1 AGGF1 SERPIND1 EPAS1 PGM1 FGB PIEZO1 F13A1 CD55 PDGFRA TGFB2 TLR4 NOTCH1 ACVRL1 CTNNB1 PRKAR1A ALG6 PTH1R MTRR PMM2 HABP2 TP53 IL10 F5 IL12A THPO CBS PTEN SAA1 SH2B3 IDH2 STAT4 CFTR IL12A-AS1 SERPINC1 SMAD4 PTPN22 HLA-DPB1 GNAQ PIGM FGG KCNN4 USP8 GDF2 CTRC ERAP1 SLC4A1 PDE4D CDH23 PRSS1 UBA1 CTLA4 FGA PIGA CASR HP_PULMONARY_ARTERY_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_ARTERY_ANEURYSM COL5A1 COL3A1 TGFBR2 TGFBR1 BGN EFEMP2 HP_AORTIC_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AORTIC_ANEURYSM TENT5A MYT1L KMT2E COL1A1 CCDC32 GTF2I B3GALT6 COL3A1 PRKG1 FBLN5 GTF2IRD1 PTPN22 FBN1 SLC25A24 FOXE3 NTNG1 KANSL1 ENG MMP23B CHRNG SLC2A10 WDFY3 ERCC8 TGFB2 SPTBN1 TGFB3 PGM3 ARF1 SPEN P4HA2 SMAD3 CHST3 SLC12A2 ACTA2 IFIH1 FLNB ROBO4 SAMHD1 APC2 ELN GRIA4 DNAJB11 NOTCH1 ACTL6B METTL27 GANAB TGFBR1 KCNMA1 TBL2 SEMA3E MLX HEY2 LMNA MFAP5 MYLK NSMCE2 ALDH18A1 HLA-B HUWE1 HS2ST1 BPTF CARS1 RERE PRKCZ MYPN PUS7 PTPN23 TMTC3 TSC1 UBR7 LOX HLA-DRB1 COL1A2 PLOD1 TSC2 RNASEH2B PPP1CB PIGN SMAD6 ZMPSTE24 LUZP1 THSD1 RLIM NCF1 ACTL6A RFC2 MAPK8IP3 FLNA HPDL TGFBR3 DNAJC30 HNRNPK BCORL1 PTEN NEDD4L CRKL KDM4B AEBP1 BCR PSMD12 COL5A2 TPM3 CHD7 ADAR BCL7B AGO2 MAP1B SMAD4 PALS1 JARID2 C12orf57 TPM2 KDELR2 TGFBR2 RAI1 B3GAT3 RNASEH2C HGD NODAL COL5A1 ZMIZ1 CLIP2 MYH11 WASF1 ABHD11 PKD1 RNASEH2A ANGPTL6 NSD1 TREX1 KCNH1 EIF4H RIN2 LAT2 MBTPS2 STX1A KCNAB2 FMR1 NKX2-5 TRIP12 SVBP AFF4 TANC2 NOD2 SETD2 MED27 UBE4B MYH3 DNMT3A IL12B MED12 BUD23 GATA5 ARFGEF2 NKAP CNOT3 MAPK1 LIMK1 TCF20 CLDN3 SKI BAZ1B SMAD2 KAT8 DPYSL5 PKD2 ERCC6 BICC1 FBN2 HSPG2 DDX6 MED13 CASZ1 PRDM16 NTNG2 MAT2A GTF2IRD2 DOCK3 ALG9 FKBP6 CLDN4 HTT VPS37D BRF1 MLXIPL TNRC6B ERMARD TAB2 TRMT1 EFEMP2 TMEM270 TRAPPC4 SATB1 FBXW11 GABRD PDPN MADD HP_ACCELERATED_ATHEROSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACCELERATED_ATHEROSCLEROSIS XYLT1 XYLT2 CYP7A1 LMNA APOE ABCA1 ABCC6 HP_DILATATION_OF_THE_CEREBRAL_ARTERY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DILATATION_OF_THE_CEREBRAL_ARTERY MYLK NF1 FARSB COL1A1 SMAD2 TGFBR2 COL3A1 PRKG1 PKD2 BICC1 PRKAR1A GAA FBN1 FOXE3 MYH11 LOX PKD1 COL4A1 PCNT ENG MAT2A ANGPTL6 ELN TONSL ALG9 THSD1 TGFB2 SPTBN1 COL5A1 SMAD3 TGFB3 TGFBR3 MFAP5 GGCX ACTA2 TGFBR1 GANAB DNAJB11 COL5A2 PLOD3 STAT1 HEY2 BGN SMAD4 HP_ARTERIOVENOUS_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTERIOVENOUS_FISTULA AGGF1 RASA1 EPHB4 COL1A1 ENG COL5A2 COL3A1 ACVRL1 GDF2 SMAD4 COL5A1 HP_VASCULAR_TORTUOSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VASCULAR_TORTUOSITY COL5A1 MT-ND4L ATP7A SMAD3 MT-ND6 APP SLC2A10 MT-CYB SELENOI MT-ND5 TGFBR1 NEK1 RASA1 TGFBR2 MT-ND4 EFEMP2 MT-CO3 TGFB2 NT5E MT-ND2 MT-ATP6 DNAJC30 MT-ND1 FBLN5 HP_PERIPHERAL_ARTERIAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_ARTERIAL_STENOSIS MYLK SMAD3 TGFB3 SMAD2 TGFBR2 PRKG1 MFAP5 ABCG5 LMNA ELN LDLRAP1 JAK2 FBN1 ACTA2 THPO FOXE3 MYH11 LOX AGXT TGFBR1 APOE IDS LDLR ABCG8 MAT2A MPL APOB ABCC6 HEY2 TGFB2 PCSK9 SMAD4 HP_THORACIC_AORTA_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACIC_AORTA_CALCIFICATION SMAD6 GATA5 IFIH1 NKX2-5 NOTCH1 HP_CALCIFICATION_OF_THE_AORTA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALCIFICATION_OF_THE_AORTA ABCC6 LDLR GATA5 ABCG8 ENPP1 NKX2-5 RNASEH2C RNASEH2B RNASEH2A NOTCH1 GBA APOB SMAD6 ADAR TREX1 ABCG5 SLC34A2 IFIH1 LDLRAP1 SAMHD1 PCSK9 HP_PERIPHERAL_PULMONARY_ARTERY_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_PULMONARY_ARTERY_STENOSIS BAZ1B SKIV2L LAT2 IFT43 STX1A NCF1 GTF2I RFC2 FKBP6 JAG1 CCNQ GTF2IRD1 CLDN4 DNAJC30 TTC37 VPS37D FBLN5 CLIP2 ELN PIGL MLXIPL ABHD11 MGP BUD23 BCOR PPP1CB PIGN TMEM270 FGFR1 PIGO UBE2A EFEMP2 METTL27 BCL7B TBL2 GTF2IRD2 LIMK1 CLDN3 EIF4H NOTCH2 HP_ASCENDING_TUBULAR_AORTA_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASCENDING_TUBULAR_AORTA_ANEURYSM IL12B HLA-B MED12 B3GALT6 FMR1 SMAD3 NODAL ACTA2 FBN1 COL3A1 TGFB2 LMNA MLX TGFBR2 BRF1 ZMPSTE24 MYH11 FBLN5 HP_PULMONARY_ARTERY_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_ARTERY_HYPOPLASIA MGP TRAIP NKX2-6 AASS MYH7 MMP21 PLXND1 HP_ELEVATED_MEAN_ARTERIAL_PRESSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_MEAN_ARTERIAL_PRESSURE NOS3 ADD1 AGTR1 GNB3 AGT PTGIS CYP3A5 ECE1 HP_ERLENMEYER_FLASK_DEFORMITY_OF_THE_FEMURS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERLENMEYER_FLASK_DEFORMITY_OF_THE_FEMURS CLCN7 GBA ANKH PSAP PLEKHM1 TCIRG1 ABCC9 HP_KNEE_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KNEE_DISLOCATION SLC10A7 AEBP1 B3GAT3 RYR1 FLNB CHST3 SLC35A3 EXOC6B XYLT1 HP_METAPHYSEAL_SCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAPHYSEAL_SCLEROSIS RECQL4 CTC1 MMP13 ANAPC1 COL2A1 SRP54 DNAJC21 CENPE SBDS ACP5 KIF22 HP_RHIZOMELIC_ARM_SHORTENING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RHIZOMELIC_ARM_SHORTENING CSPP1 MYSM1 DYM GPX4 KIAA0586 SLC26A2 FZD2 HP_APLASIA_HYPOPLASIA_OF_THE_CAPITAL_FEMORAL_EPIPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_CAPITAL_FEMORAL_EPIPHYSIS PIK3C2A MATN3 ADAMTSL2 IFT140 COL11A2 COL2A1 DYM CANT1 COMP EXTL3 PLOD3 TRAPPC2 KIF22 CDC6 CHST3 SMARCAL1 HS2ST1 HP_DIAPHYSEAL_THICKENING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIAPHYSEAL_THICKENING SOST TENT5A LRP5 LBR IDS KDELR2 MBTPS2 SLC35D1 GUSB PTDSS1 LRP4 IDUA TBXAS1 INPPL1 RMRP SHOX HP_SHORTENING_OF_ALL_PHALANGES_OF_THE_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORTENING_OF_ALL_PHALANGES_OF_THE_TOES TRPV4 SOX9 KCNH1 PIGF ARSL FIG4 VAC14 NOG HP_PROXIMAL_RADIO_ULNAR_SYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_RADIO_ULNAR_SYNOSTOSIS TWIST1 CHSY1 FGFR3 FGFR2 HOXA11 HP_IRREGULAR_CAPITAL_FEMORAL_EPIPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRREGULAR_CAPITAL_FEMORAL_EPIPHYSIS RNU4ATAC ADAMTSL2 COL9A1 UFSP2 PEX5 HP_SYNOSTOSIS_OF_CARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOSTOSIS_OF_CARPAL_BONES GDF5 FLNA SALL4 NOG PITX1 HOXA13 BMPR1B FGFR2 SMOC1 PAX3 APC EVC2 DYNC2LI1 EVC MAP3K7 BHLHA9 NXN ROR2 LRP4 ESCO2 GLI1 MACROH2A1 HP_METAPHYSEAL_SPURS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAPHYSEAL_SPURS ATP7A COL2A1 DLK1 MATN3 PCYT1A RTL1 DYNC2H1 MEG3 TRAPPC2 HP_HYPEREXTENSIBILITY_AT_WRISTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPEREXTENSIBILITY_AT_WRISTS COL6A3 COL12A1 COL6A2 COL6A1 RNF13 PYCR2 HP_KNEE_OSTEOARTHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KNEE_OSTEOARTHRITIS PTPN22 ANKRD55 PTPN2 COL9A2 IL2RB CD247 SMAD3 COL2A1 TRAPPC2 MMP13 IL2RA STAT4 HP_ABNORMAL_METAPHYSEAL_TRABECULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_METAPHYSEAL_TRABECULATION TNFRSF11A NHP2 LIFR TINF2 TNFRSF11B CTC1 TRPV4 NPM1 PARN TERT PORCN PLCB3 RTEL1 DKC1 AMER1 NOP10 WRAP53 VDR SLC29A3 TERC TCIRG1 USB1 NOTCH2 HP_HIGH_FREQUENCY_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_FREQUENCY_HEARING_IMPAIRMENT RPGR AP1S2 DSPP SMPX LMX1A GJB3 MYH9 HP_ABNORMALITY_OF_THE_VERTEBRAL_ENDPLATES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_VERTEBRAL_ENDPLATES COL9A1 TNFRSF11A COL11A1 COL2A1 MMP13 RNU4ATAC SOST CCN6 TRAPPC2 POLR3A ZBTB20 DMP1 PDE4D CHST3 B3GALT6 GORAB COL9A2 LOXL3 CLCN7 COL10A1 SLC10A7 DYM GNPAT COMP NANS COL9A3 ACP5 KIF22 SLC29A3 TCIRG1 EXOC6B SLC39A13 EIF2AK3 TONSL FN1 ENPP1 PAPSS2 HP_ABNORMAL_SACRUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SACRUM_MORPHOLOGY PTH1R NSD2 RPL10 GTF2I CTBP1 HOXA13 COLEC10 ERF MEOX1 NODAL FLNB GTF2IRD1 DVL1 USP9X HCCS CLIP2 BMPER GDF6 HNRNPK EBP RMRP ABHD11 ROR2 RAB23 KMT2A FANCF KANSL1 TBXT HOXD13 CDK10 SPOP FUCA1 CPLX1 DHPS NSD1 LETM1 ELN NADSYN1 OTUD6B FGFR3 RUNX2 RTTN EIF4H NCAPG2 ZIC3 LAT2 STX1A CTCF NELFA NSUN2 PAFAH1B1 DMP1 NDUFB11 FGFR2 WNT5A FUZ COL2A1 KCNK9 SETD2 APC2 SLC26A2 BUD23 B9D2 MASP1 ITGA8 ASXL1 VANGL1 NXN SETBP1 METTL27 TBL2 SHANK3 ARID1B LIMK1 CLDN3 TWIST2 PSMD12 LIFR BAZ1B SETD5 ODC1 DEAF1 TBX4 FGF20 DVL3 SUGCT TMCO1 LIG4 FAT4 NOTCH3 GDF3 YWHAE RET ZNF699 MNX1 MED12 WNT7A GTF2IRD2 TBX6 SRD5A3 FGFRL1 EXTL3 LBR RPS19 VANGL2 DYRK1A AFF3 NCF1 DCHS1 RFC2 FKBP6 CAPN15 KIF15 PAM16 ANK1 TAF1 CLDN4 DNAJC30 B3GLCT VPS37D PHEX PDGFRB MLXIPL CCL2 COX7B AEBP1 FZD2 TMEM270 CD96 BCL7B GREB1L HLA-B HAAO HIC1 FANCB PIGG POC1A ENPP1 TNFRSF1A HP_ABNORMALITY_OF_THE_INTERVERTEBRAL_DISK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_INTERVERTEBRAL_DISK MESP2 COL2A1 WDR73 NUP107 WDR4 MATN3 TRPV4 SMAD3 DLL3 LFNG XYLT2 HGD TRAPPC2 MT-TL1 LAGE3 SHOC2 LMNA RIPPLY2 CHST3 OSGEP RRM2B ANKH HES7 SLC26A2 MT-ATP8 PLCB3 TPRKB HOXD13 COL9A1 NUP133 TP53RK FN1 ACP5 RNU4ATAC PPP1CB TNFRSF11B LTBP3 EXTL3 HP_ABNORMALITY_OF_THE_ACHILLES_TENDON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ACHILLES_TENDON ABHD12 NGLY1 KRT1 HGD EMD GJB1 LMNA PYROXD1 OPA1 MT-TE FKRP FHL1 PTRH2 SYNE1 LARGE1 ZC4H2 PLEC POMT1 COL6A3 LMX1B GAN KL ADAT3 FKTN SGCA HRAS SYNE2 POU3F4 PRKCG KY COL12A1 MYOT ACTA1 BICD2 COL6A2 TMEM43 TTN ALS2 HINT1 SGCG CRPPA CYP27A1 TFG NSUN2 COL6A1 ARL6IP1 HP_ABDOMINAL_AORTIC_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABDOMINAL_AORTIC_ANEURYSM MYLK NSMCE2 SMAD3 TGFB3 SMAD2 TGFBR2 LOX P4HA2 PRKG1 MFAP5 PTPN22 FBN1 ACTA2 FOXE3 MYH11 HLA-DRB1 TGFBR1 MAT2A HLA-B ELN HEY2 TGFB2 SMAD4 HP_AORTIC_ARCH_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AORTIC_ARCH_ANEURYSM BAZ1B LAT2 LOX STX1A NCF1 GTF2I KCNAB2 NKX2-5 SPEN RFC2 FKBP6 GTF2IRD1 RERE PRKCZ CLDN4 HSPG2 DNAJC30 VPS37D CLIP2 MLXIPL UBE4B ABHD11 CASZ1 BUD23 GATA5 PRDM16 MMP23B TMEM270 NOTCH1 CHD7 ELN METTL27 SMAD6 BCL7B TBL2 KCNH1 SEMA3E GTF2IRD2 TGFBR2 GABRD PDPN LIMK1 CLDN3 SKI LUZP1 EIF4H HP_SUPRAVENTRICULAR_ARRHYTHMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPRAVENTRICULAR_ARRHYTHMIA CRELD1 KCNE2 KIF20A CIZ1 BMP2 NODAL CACNA2D1 SCN3B POLG CASQ2 KCNJ5 MT-ATP6 SCN1B NUP155 HCN4 SEMA3A NKX2-5 DMPK SCN5A NPPA KCNQ1 SYNE1 CACNA1C CACNB2 LMNA PRKAG2 ANK2 SCN10A FHOD3 MYH6 KCNJ8 KCNH2 NAA10 MYH7 MYPN ABCC9 SMAD3 TRPM4 ACTN2 DES GNB2 GATA6 TMEM43 TBX5 DNMT3A SCN2B RANGRF POLG2 TTN CAVIN1 TBX20 SLC19A2 RYR2 NEXN TLL1 SCNN1A GATA4 FLNC KCNJ2 MFAP5 TNNI3 KCND3 EMD PLN GATAD1 FLAD1 GJA5 MYOZ2 COL4A1 CDH23 PKP2 FHL1 CACNA1S GPD1L CSRP3 AKAP9 TNNT2 TNNC1 APRT GATA5 NR2F2 MYL4 SYNE2 TWNK RYR1 CLIC2 SLMAP CITED2 MYL2 RRM2B MT-CYB SCN4B KCNE3 TRDN KCNA5 TAB2 ACTC1 SLC25A4 DTNA XK SGO1 TNNI3K KCNE5 LRP12 HP_ELEVATED_DIASTOLIC_BLOOD_PRESSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_DIASTOLIC_BLOOD_PRESSURE NOS3 KCNMB1 ADD1 AGTR1 FLT1 GNB3 AGT PTGIS CYP3A5 STOX1 CORIN ECE1 HP_ABNORMAL_CARDIAC_ATRIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CARDIAC_ATRIUM_MORPHOLOGY LMNB1 NF1 GTF2I KIAA0586 HDAC8 PIGA BUB1B CFAP221 ADA2 KRAS TNNI3 KMT2D AMMECR1 RTL1 RAB23 KANSL1 C2CD3 OTUD6B PPP2R5D ARSL UBR7 FHOD3 SH2B1 STRADA MYH6 BRAF NFE2L2 MYRF NAA10 GATA1 TXNL4A DNAJB13 MAP2K1 SMAD3 GATA6 ATIC CDK13 EXT2 WDR37 FLNB COX7B ADK TBX20 ASXL2 ODAD1 GATA4 CSGALNACT1 NXN TBL2 RPS27 RFWD3 NOTCH1 RSPH3 RPL27 EP300 PQBP1 ERCC4 MAP2K2 SYT1 MEIS2 CHST14 NKX2-1 TRAIP CCDC39 LARP7 FIG4 COL11A1 CTBP1 CARS1 RPS20 ACTC1 SUCLG1 NKX2-5 SIK3 NFIX COL1A2 RSPRY1 FOXF1 PPP1CB PIGN VAC14 ZNF699 DNAH11 CTCF ROR2 EFTUD2 MEG3 PLD1 DVL3 FGFRL1 TNNT2 RPS29 CPLX1 RPS10 ZDHHC9 GAS8 NCF1 SMN1 INSR RPL26 HCCS SMARCC2 KIF15 DNAJC30 HNRNPK DPH1 SALL1 SRCAP BCR SETD1A POR SMARCA2 UBE2A BCL7B DNAH5 PTEN RPGR TASP1 MRPL3 TLL1 RPS24 EVC2 RAD21 TALDO1 CACNA1C CRELD1 SEC24C BICRA ARID2 MYL3 SPECC1L RERE PPP1R21 B3GAT3 GDF1 FANCI BUB1 COMT EIF2AK3 RSPH4A JMJD1C DNAAF2 BRCA2 PGAP1 CDC45 DNAH9 CDK10 UBR1 NSD1 SHOC2 ELN ARID1B ASCC1 GLI1 DNAAF4 EIF4H TTC12 PACS1 HRAS SCN5A MYH7 GLI3 SOS1 GJA1 NONO NEK1 JAG1 FANCA TMEM94 AFF4 RPL15 DHCR7 CCDC65 MED13L SETD2 TBX5 BBS2 BRD4 BUD23 TSFM CCDC22 DNAI1 KAT6A NEK10 SETBP1 HIRA EVC STAG2 CPE DACT1 CLDN3 HNRNPH2 CREBBP TBX1 ABCD4 NPHP3 ATP6V1A GPX4 FANCB IGF1R NKX2-6 RPL10 WT1 TBX4 GNB5 KAT6B ODAD3 ZMPSTE24 RPL31 KDM5B AUTS2 MMP21 PIGO DNAAF3 SIAH1 RBM10 USP9X FGFR2 SLC29A3 GATA5 NR2F2 ADAT3 FANCF RPS17 TBC1D24 PHGDH ARVCF LETM1 FGF13 B3GLCT MYOCD RREB1 CEP57 LZTR1 LMNA WASHC5 BRCA1 TMEM270 CDK8 HAAO G6PC3 MMP2 LRRC56 RAF1 SOX11 RAD51C NSD2 RPS28 GPC4 RPS15A LONP1 BUB3 ARHGAP31 STRA6 STK4 ODAD2 GTF2IRD1 KIF11 RPL18 FOXC1 DYNC2LI1 SLC25A24 SCN1B ESCO2 GYS1 RPL35 FBXW11 RPL35A NOTCH2 KDM1A BCOR ZIC3 NEK9 FTCD SMC3 RARB SLX4 ABL1 TKT CHST3 NELFA PTPN11 CCNO DRC1 SNX14 TSR2 ROBO4 RAC1 APC2 UQCRC2 SDHD SLC19A2 MASP1 DPF2 XYLT2 PIEZO1 SHMT2 METTL27 FLNC NIPBL MAPK1 RELN CHD7 SPEF2 SMARCB1 IRX5 XRCC2 TBX2 CUL3 UBE3B SON TMCO1 RPL5 AMER1 PKDCC PIGF MAGEL2 COL1A1 NDUFB11 GPC3 ECE1 SH3PXD2B TGDS YY1 KAT8 RPS26 COG6 FANCC RFC2 RSPH1 ANK1 UBE2T TTC37 CITED2 POLA1 CRKL RAD51 SMARCD1 PTF1A NME8 SALL4 FLCN RPL3L ALG12 FGFR1 RBM8A ODAD4 MED25 ZEB2 CACNA1D DNAAF11 CFAP298 DDX6 HYDIN PIGG TGFB3 ARID1A MAD2L2 SOX4 KIF20A RAI1 VPS33B UMPS GNPTAB PRKACB SMAD4 DNAH1 NODAL SEMA3E CLIP2 UPF3B FANCE ABHD11 EOGT PCGF2 SCUBE3 MCM10 WDR35 PKD1L1 ACADVL MCIDAS MEGF8 PIGT CEP290 KDM6A SMARCE1 TBX22 CCBE1 NCAPG2 LAT2 HSPA9 DNAAF1 ATP6V1E1 STX1A MYPN RPL11 CFAP300 MRAS DNMT3A PAX3 DSE B3GALT6 TMEM260 SNRPB RPS19 SLC35A2 FOXJ1 FGFR3 SPAG1 SMARCA4 AGGF1 MLXIPL FANCL CHRM3 RPS7 ZMYND10 MED12 TGFBR1 AGO2 SMC1A NKAP ASXL1 STAT1 LIMK1 EPHB4 DNAL1 TRRAP MMP14 MTX2 GAS2L2 BAZ1B SKIV2L DNAI2 DNAAF6 BMP2 VPS33A ALG9 UFD1 RNU4ATAC SNRPN RIPK4 FBN2 STAMBP RSPH9 LTBP4 CCDC40 CCDC103 GTF2IRD2 TGFBR2 GP1BB METTL5 PEX19 MOGS BMPR1A THOC6 MKKS FKBP6 PLXND1 DNAAF5 CHD4 CLDN4 VPS37D TRIP13 FANCG OFD1 SPATA5 CTU2 PCNT CFC1 FKTN GPC6 BRIP1 FANCD2 TRIP4 MAP3K7 SMG8 DLK1 PIK3R2 FANCM PALB2 STK36 RIT1 HP_RIGHT_VENTRICULAR_DILATATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIGHT_VENTRICULAR_DILATATION TBX20 ACTC1 GATA4 TLL1 SGCG CITED2 TRAPPC11 ALG9 CDH2 GATA6 MYH6 NKX2-5 HP_ABNORMAL_T_WAVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_T_WAVE SCN5A JUP SLC1A3 CACNA1C MYL3 CALM1 CACNA1A AKAP9 SCN4B KCNQ1 KCNJ2 CALM2 CLCNKB GYG1 ATP1A2 KCNJ5 SNTA1 NOS1AP MYL2 BRF1 ATP1A3 KCNE2 CALM3 DCAF17 KCNH2 RYR1 MECP2 TBX5 CAV3 SCN10A ANK2 SLC12A3 TRDN KCNE1 HP_VENTRICULAR_SEPTAL_HYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULAR_SEPTAL_HYPERTROPHY BSCL2 GLA MYPN MYL2 MTFMT MYBPC3 GYG1 SYNE1 LEMD2 HP_CORONARY_ARTERY_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORONARY_ARTERY_STENOSIS MLXIPL ABCA1 ELN DYRK1B YY1AP1 PNPLA2 HP_CARDIAC_VALVE_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIAC_VALVE_CALCIFICATION HGD GATA5 NKX2-5 NOTCH1 GBA ZMPSTE24 SMAD6 SLC34A2 LMNA FBN1 IFIH1 MTX2 HP_ABNORMAL_ATRIOVENTRICULAR_CONDUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ATRIOVENTRICULAR_CONDUCTION SLC25A20 CACNA2D1 CASQ2 KCNJ5 SEMA3A AGXT KCNJ18 SCN5A GPD1L SDHAF1 NPPA ACADVL SYNE1 CALM1 CACNB2 LMNA SCN10A MTM1 GPX4 MYH6 KCNJ8 KCNH2 RRM2B HCN4 TRPM4 ACTN2 DES GNB2 GATA6 TMEM43 TBX5 KCNQ1 NKX2-5 MT-ATP8 RANGRF TTN TBX20 RYR2 TLL1 SCNN1A SCN3B MMP14 GLA GABRA3 KCND3 EMD CACNA1C SCN2B DMPK PKP2 FHL1 CALM3 SDHB KCNJ2 AKAP9 RNASEH1 TTR CACNA1D CACNA1S SYNE2 GATA4 SDHA MT-TL1 SLMAP CITED2 PRKAG2 GJA1 MT-CYB SCN4B KCNE3 BVES TRDN MYBPC3 ACTC1 ABCC9 PTPN11 GJA5 MMP2 SCN1B KCNE5 SDHD HP_VENTRICULAR_ESCAPE_RHYTHM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTRICULAR_ESCAPE_RHYTHM SYNE1 LMNA GJA5 SCN5A SYNE2 NPPA GNB5 EMD FHL1 TMEM43 HP_CONCENTRIC_HYPERTROPHIC_CARDIOMYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONCENTRIC_HYPERTROPHIC_CARDIOMYOPATHY NDUFS4 MT-TW TSFM MT-TS1 MT-TS2 MT-TQ MT-ND5 MT-CO3 MT-TL1 DES CLN3 MT-ND6 MT-TH FHOD3 MT-ND4 MT-TF MT-CO2 MT-CO1 MT-ND1 HP_TOTAL_ANOMALOUS_PULMONARY_VENOUS_RETURN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TOTAL_ANOMALOUS_PULMONARY_VENOUS_RETURN GDF1 RPS15A CDC42 MMP21 WT1 DHCR24 NODAL HP_SHORTENED_PR_INTERVAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORTENED_PR_INTERVAL GABRA3 MT-CYB GAA PRKAG2 CACNA1S TRPM4 KCNJ18 HP_PREMATURE_ARTERIOSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_ARTERIOSCLEROSIS ABCG5 WRN LMNA LDLR ABCG8 LDLRAP1 APOB PCSK9 HP_PREMATURE_CORONARY_ARTERY_ATHEROSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_CORONARY_ARTERY_ATHEROSCLEROSIS APOE LDLR ABCG8 ABCA1 CEP19 APOB ABCG5 ERCC6 ACTA2 ERCC8 LDLRAP1 CYP27A1 LIPC LMNA PCSK9 HP_PROLONGED_QTC_INTERVAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_QTC_INTERVAL SCN5A CACNA1C CALM1 AKAP9 SCN4B KCNQ1 KCNJ2 CALM2 KCNJ5 TANGO2 SNTA1 NOS1AP KCNE2 CALM3 SVIL KCNH2 KCNA5 MECP2 TBX5 CAV3 SCN10A ANK2 KCNE1 TNNI3K TRDN HP_SYNOVIAL_HYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOVIAL_HYPERTROPHY PTPN2 IL2RB IL2RA PRG4 ANKRD55 PTPN22 CD247 STAT4 HP_POLYARTICULAR_ARTHROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYARTICULAR_ARTHROPATHY PIK3CD IL10 MEFV SLC22A4 NFKBIL1 CD244 DMP1 CIITA TNFAIP3 TNFRSF1A STAT3 PTPN22 NLRP1 IL36RN NOD2 CCN6 NLRP3 ENPP1 HP_HELICOBACTER_PYLORI_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HELICOBACTER_PYLORI_INFECTION FLT1 CARMIL2 IFNGR1 STOX1 CORIN HP_PANCREATIC_PSEUDOCYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_PSEUDOCYST CTRC CFTR PRSS1 SPINK1 PRSS2 HP_SECRETORY_DIARRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SECRETORY_DIARRHEA FOXP3 UNC45A EPCAM SLCO2A1 SLC9A3 SPINT2 NLRC4 PLVAP STX3 HP_PANCREATIC_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_CALCIFICATION ABCC6 PRSS2 ENPP1 PRSS1 SPINK1 CTRC CFTR CASR CPA1 HP_IMPAIRED_MASTICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_MASTICATION NECTIN1 TPM2 LRP6 HACD1 MSX1 COLQ P4HA2 ACTA1 WNT10B KANSL1 TGFA TPM3 AXIN2 PYROXD1 PTPN22 FGFR1 HLA-DRB1 ALS2 ADSS1 LAMA2 PYGM MTRFR MAP3K20 SUMO1 IDS IRF6 LAMB2 HLA-B EDA WNT10A ADNP GRIN1 SELENON GNAI3 TUBB3 FARS2 EDARADD PPP2R5D TP63 PAX9 MYL2 ITGA7 HP_ANOPERINEAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANOPERINEAL_FISTULA KDM6A TGFB1 KMT2D PKP1 SYK HP_BOWEL_DIVERTICULOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BOWEL_DIVERTICULOSIS BAZ1B LAT2 ALDH18A1 STX1A NCF1 GTF2I RFC2 FKBP6 COL5A1 FBLN5 GTF2IRD1 CLDN4 DNAJC30 ERBB3 VPS37D CLIP2 ELN PTEN MLXIPL ABHD11 BUD23 UBR1 MLH1 PIK3CA RET TMEM270 EFEMP2 METTL27 BCL7B TBL2 AKT1 GTF2IRD2 MSH2 LIMK1 PKD1 CLDN3 EIF4H HP_RECTAL_ABSCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECTAL_ABSCESS CYBB VANGL1 NCF2 RAC2 TTC7A CYBA ITGB2 NCF1 HP_ADENOMATOUS_COLONIC_POLYPOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADENOMATOUS_COLONIC_POLYPOSIS APC GREM1 RNF43 MUTYH NTHL1 BMPR1A ENG AXIN2 SMAD4 POLD1 MSH3 PTEN PMS2 MLH1 POLE HP_GASTROINTESTINAL_INFARCTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROINTESTINAL_INFARCTIONS B2M IL12B F5 JAK2 HLA-B P4HA2 MEFV STK11 COL3A1 TEK MLX PTPN22 HLA-DRB1 HP_INTESTINAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTESTINAL_HYPOPLASIA RAPSN LMOD1 MUSK SOX10 MYH11 ACTG2 GATA6 NUP88 DOK7 CLMP SLC18A3 LMNA MYOD1 GUCY2C FLNA MYLK ZMPSTE24 HP_FUNCTIONAL_INTESTINAL_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FUNCTIONAL_INTESTINAL_OBSTRUCTION KRAS PALLD RABL3 ERBB3 TP53 BRCA1 CDKN2A PALB2 BRCA2 SMAD4 HP_THORACIC_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACIC_HYPOPLASIA GAD1 CEP120 ATP7A TENT5A DYNC2LI1 RTL1 KIAA0586 SLC35D1 CFL2 CCDC47 KCNJ8 FBN1 POR TRPV4 TRIP11 BMPER INPPL1 DDRGK1 WDR19 TRPV6 IFT80 SBDS SERPINH1 GPX4 SOX9 DYNC2I1 FAM20C IFT43 CHST3 FLNB TNFSF11 COL2A1 KIAA0753 SLC26A2 DYNC2I2 COL1A1 SNX10 TMCO1 MBTPS2 SEC23A CLCN7 XYLT1 DYNC2H1 COL11A1 LMOD3 CRTAP MIR140 MUSK FLNA KLHL41 PIGN ZC4H2 IHH ZBTB20 MATN3 HHAT FAT4 PLCB3 SLC10A7 KBTBD13 PCNT MEG3 ADAMTS3 MTOR LBR INTU WDR35 IFT122 GNE DCHS1 CASR ACTG2 DYNLT2B PIK3C2A CFAP410 ORC6 IFT140 EVC2 IFT52 LMNA TPM2 KDELR2 NEB GNPTAB B3GAT3 SRP54 PRKACB DONSON FGFR2 SLC9A6 ITGA3 EVC RMRP BCOR PCGF2 DLG3 AGRN RUNX2 GLI1 UPF3B IFT172 TTC21B ABCC9 NEK1 NEPRO ACTA1 DLK1 SNRPB COL11A2 FGFR3 CANT1 KAT6A TPM3 DNAJC21 MYOD1 HSD17B4 MESD COL1A2 CCBE1 MYPN HSPG2 DDR2 B4GALT7 PUF60 CSPP1 TAPT1 SKI RPS19 CTSK TCIRG1 PAM16 NEK9 NAA10 IFT81 KYNU PTH1R CILK1 GBA HP_PECTORAL_MUSCLE_HYPOPLASIA_APLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PECTORAL_MUSCLE_HYPOPLASIA_APLASIA TBX5 ALX3 TBX3 SALL4 MYMK PLXND1 REV3L ALX1 HP_JOINT_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_HEMORRHAGE SERPINF2 VWF F8 F2 F13A1 F7 F5 LMAN1 MCFD2 GGCX F13B PLAU F9 WAS F10 SERPINE1 F11 HP_ABNORMALITY_OF_THE_SYNOVIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SYNOVIA ATR ATP7A COL1A1 MKKS HDAC8 B3GALT6 IARS2 CFL2 CCDC47 COL12A1 SLC18A3 TPM3 KMT2D PTCH1 TRIP11 RAB23 KANSL1 GORAB COL2A1 DNAJC21 MCTP2 DLL1 TDGF1 OBSL1 FGF8 GEMIN4 AP4S1 ZNF469 PPP2R5D GLRA1 SOX9 SMOC1 HFE MAP2K1 SMAD3 SIX3 PYCR1 RBM8A FLNB OCRL GPHN MYO9A PTH1R EYA1 RPS15A FOXH1 CSGALNACT1 RECQL4 RFWD3 TRAPPC12 ALDH18A1 ERCC4 CRTAP MIR140 SLC6A5 NGLY1 AKT1 MATN3 HACD1 CANT1 FIG4 GUSB COG1 GLI2 SLC35A2 ZIC2 GLI3 HSPG2 ERGIC1 COLEC10 RINT1 NANS VAC14 ARSB COL13A1 NOD2 FGFRL1 LMNA HYAL1 CPLX1 TPM2 OSGEP COL1A2 ATP6V0A2 KIAA0586 TGIF1 F8 PUF60 COL3A1 COL9A3 SYT2 AEBP1 YWHAE ATP6V1A COL5A2 MMP2 SLC25A1 COL6A3 FLNA SLC35A3 ARNT2 DISP1 EVC2 IFT52 SELENON SHROOM4 RAD21 ITGA7 DYM BICRA B3GAT3 SIL1 SHH SMAD6 DVL1 SLC26A2 BRCA2 POMT2 GSC CHAT KIF22 ADAMTS2 EIF2AK3 NODAL KLHL41 CUL7 NSDHL PTPN22 GJA1 CDON SEC31A POLR1A FANCA TOR1A AFF4 FHL1 DHCR7 FBLN5 ACTA1 GMPPB FGFR1 PORCN ECEL1 COL10A1 BRD4 HOXA11 COX8A RYR1 PLOD1 EVC TGFB2 LPIN2 COL6A1 PTPN2 SIX1 ABCC6 GPX4 FANCB AP4B1 FGFR2 SERPINF1 TBX4 TBCD EXOSC3 LARGE1 MYH7 CCN6 TBX15 KAT6B NEB DDR2 DPYSL5 CEP120 USP9X ZC4H2 TONSL EXTL3 ATP6V1E1 FANCF ERCC1 KDM6A CHRNG AP4M1 CENPJ INPP5K FZD2 BRCA1 SLC5A7 MYH8 CHRM3 EXT2 RAD51C TENT5A GPC4 LONP1 SLC2A10 ATAD1 NSD2 NFIX EXOC6B COL6A2 GDF5 GLB1 FKBP10 TIMM22 MYL2 DHODH SLC12A2 TNNT3 TELO2 SLX4 CHST3 AP4E1 PTPN11 WNT5A ADAMTSL2 GAS1 SMO EFEMP2 NIPBL MBTPS2 PIGL XYLT1 LMOD3 SLC6A9 TRPV4 AARS1 LMNB2 XRCC2 STAG2 ANKRD55 UBE3B COLEC11 PTEN ZMPSTE24 GPC3 HK1 WDR35 FKRP AFF3 COMP FANCC AP3B1 UFSP2 BRAF APC GLRB UBE2T ALG9 RAD51 RNU4ATAC INPPL1 LRP4 CD247 MAD2L2 C12orf57 PRG4 TMEM251 KDELR2 CTBP1 ENPP1 GNPTAB SMC1A SMARCAL1 FANCE DSTYK SLC35D1 SNAP25 MYH3 LETM1 IL2RB IL2RA IFIH1 WNT7A THOC2 FUT8 THRA FANCI AGRN CCDC8 NEPRO FBN1 SNRPB MASP1 COL5A1 FANCL MYO18B EIF4A3 BGN IL6ST PYCR2 SF3B4 CLTCL1 POLR3A PIEZO2 HACE1 GATA1 DVL3 VPS33A EXT1 VAMP1 SMC3 PTRH2 DYNC2I1 CSPP1 FLI1 TGFBR2 PAFAH1B1 OFD1 BICD2 STAT4 POMT1 CD96 DYNC2H1 POR CHD4 FANCG FBLN1 MAP3K20 FGFR3 BRIP1 FANCD2 MAP3K7 FANCM PALB2 HP_GASTRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTRITIS PRKCD SKIV2L RIPK1 LRBA CARD8 FAS SYK AIRE CASP10 FOXP3 IL1B TTC37 RASGRP1 FASLG CTLA4 IL1RN KRAS CDH1 NFKB1 HP_ABNORMALITY_OF_THE_GALLBLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_GALLBLADDER NSD2 SLC4A1 SEC24C HBB SPECC1L PSAP GTF2I ENG CCDC47 SPTB ARSA COMT GYPC EPB41 GTF2IRD1 PNPLA2 PKLR GATA6 JMJD1C FECH CLIP2 SCNN1G ABHD11 CYP27A1 DMPK HOXD13 F5 CPLX1 PIEZO1 PFKM NR1H4 GBA ELN SEC23B KDM5C PKHD1 EIF4H ABCB4 CNOT1 LAT2 EPB42 STX1A SON NELFA STK11 ANK1 GPR35 MECP2 SCNN1B SC5D ALAS2 BUD23 RFX6 METTL27 TBL2 ALDOA HIRA ACVRL1 LIMK1 CLDN3 ABCB11 HK1 CYP7A1 TBX1 BAZ1B ATP8B1 BLVRA CTBP1 TCF4 VPS4A UFD1 ABCG8 SMPD1 FOXF1 MST1 SCNN1A DHCR7 UROS UQCRFS1 GTF2IRD2 GP1BB PEX19 INTU GNE SMAD4 SPTA1 JAK2 NCF1 RFC2 BPGM FKBP6 ASXL1 ARVCF LETM1 SEMA4D GCGR AIRE FUCA1 CLDN4 KCNN4 DNAJC30 VPS37D B3GLCT GPI MLXIPL GDF2 RREB1 TPI1 TMEM270 BCL7B MED25 PIGG HP_ABNORMAL_JEJUNUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_JEJUNUM_MORPHOLOGY MIR17HG CENPF TTC7A PPP1R12A MYCN RFX6 ZNF699 HP_INTESTINAL_POLYP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTESTINAL_POLYP PTCH2 PIK3CA EDN3 APC MTOR GREM1 SDHC RNF43 KEAP1 SDHB BUB3 SEMA3C ENG BUB1B MLH1 MUTYH BUB1 SUFU PTEN EDNRB SMO CHEK2 AXIN2 CTNNB1 PMS1 SEC23B ERBB3 SMAD4 CEP57 KRAS ERBB2 POLD1 DICER1 PDGFRA RET BMPR1A FAN1 AKT1 PMS2 POLE MSH6 GDNF STK11 SEMA3D GNAS TGFBR2 ATP7A SREBF1 NTHL1 TP53 NRTN TRIP13 GDF2 MLH3 FLCN CDKN2A ABCD1 MSH3 EPCAM ECE1 MSH2 MDM2 USF3 SDHD ACVRL1 PTCH1 KLLN HP_SPONTANEOUS_ABORTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONTANEOUS_ABORTION ABCC6 RHAG ENG ENPP1 HOXA13 CLN8 FGG C11orf80 FCGR3B FGA RYR1 F2 WRN GPHN SERPINC1 JAK2 XIST DNM2 RTL1 ALB HBB THPO BIN1 F13B MGP F12 SYCP3 RHCE MPL FGB MEG3 MYF6 F13A1 MTMR14 RHD REC114 HTR1A DLK1 ANXA5 F5 SERPINE1 HSPG2 HP_PROMINENT_NASOLABIAL_FOLD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_NASOLABIAL_FOLD ATP6V1E1 FOXP1 TOR1A USP9X ATP6V1A ATP6V0A2 CHST14 TNNI2 DSE MYBPC1 NF1 HP_PROMINENT_NASAL_TIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_NASAL_TIP PIGY PCGF2 WDR26 BICRA DPYD MADD AUTS2 PRKACB FLCN OBSL1 CSGALNACT1 CHRNA7 PDE4D KCNJ6 MED25 ZEB2 SYT1 CCDC8 SPEN HP_DEPRESSED_NASAL_BRIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEPRESSED_NASAL_BRIDGE GNRH1 KMT2E EXOSC1 CCDC32 PEX6 RTL1 KIAA0586 HDAC8 B3GALT6 PIGA MGP BUB1B HBB IARS2 LFNG FAT4 SH3PXD2B KCNH1 ADA2 KRAS TRPV4 GJA1 SLC45A1 DPM1 BMPER AMMECR1 MEF2C PEX13 METTL23 RAB23 KISS1 GNAS SPOP DDB1 MMP23B COL1A1 IDUA WDFY3 CRIPT SLC9A7 FGFR3 SOX9 RHOBTB2 SMOC1 KAT5 BRAF NAA10 GATA1 FAM20C SPEN MAN2B1 FZD2 PEX3 FRMPD4 STX16 PRKAR1A KREMEN1 AGA AGL NEXMIF PEX10 PTCHD1 SIN3A PEX12 KIAA0753 ZSWIM6 FLNB FREM2 AKT1 TSHB ARX GRIA4 WDR11 COG8 PRKD1 POU1F1 POLE AIFM1 GNPAT KCNA1 CSGALNACT1 NXN EDARADD ACTL6B PIGP KCNMA1 GPC4 RPS27 DYNC2H1 MAP2K2 ERF MIR140 NF1 GRIP1 EDAR HUWE1 COL11A1 OBSL1 DIS3L2 FGFR2 BPTF RERE PRKCZ CDKL5 PEX16 TACR3 PTPN23 CASK TUBB RPS20 UBR7 SYP DLG3 NFIX DVL1 LHX3 RSPRY1 DNMT3B ROR2 MEG3 GPC3 WDR4 TRIP11 ADNP ARSB PEX7 DVL3 MTOR GLIS3 PEPD COL2A1 SIK1 PROK2 RPS29 HYAL1 FANCL MED12L LBR COL18A1 RPS10 FGF17 CREBBP FDFT1 HPDL ASXL1 ATRX RPL26 SMARCC2 COL11A2 CLIC2 ZBTB18 TAF1 ZIC2 PITX1 MYOD1 DPH1 BCORL1 SUMF1 FH PEX19 CDH2 KDM4B RIPK4 NAGA HDAC4 PSMD12 HELLS GBA GNS SLC26A2 POR CD96 CHD7 UBE2A ANTXR1 FLNA DMD PTEN AGO2 CNOT1 RPS24 SEPTIN9 IFT52 FTSJ1 ARID1A ACSL4 SHROOM4 ZNF711 RAD21 TALDO1 CNKSR2 CACNA1C JARID2 MID2 DMXL2 PURA BICRA ARID2 SPECC1L PDE4D IYD B3GAT3 RPL27 SCYL2 TRIM8 RPS23 GMNN RAB3GAP2 ARL3 SLC5A5 MAPRE2 ZMIZ1 PSAT1 SOX11 RECQL4 PGAP1 WASF1 RAB39B WDR35 CDK10 KIAA1109 GDI1 ADAMTS2 ARID1B EYA1 DLK1 TBCE RPS6KA3 AKT3 EIF2AK3 RUNX2 NIPBL ALG13 CUL7 RAF1 SPRY4 STAG2 PNKP GLUL MECP2 HRAS SNAP29 SOS1 USP27X ABCC9 NSUN2 JAG1 SVBP TMEM94 TANC2 RPL15 DHCR7 FGFR1 MED27 UBE4B BRD4 CANT1 FBN1 CDCA7 CCDC22 CNOT3 SETBP1 PLOD1 PIK3CD SLC39A13 SCARF2 MED12 TCF20 TFAP2B NSMF SOX5 NPR2 ETFDH SETD5 IQSEC2 MDH1 FAR1 KAT8 GPX4 LRP2 PIGU TBX4 SIM1 HSPG2 DHCR24 ELN SMG9 MAP2K1 SMARCA4 RPL31 DDR2 PEX2 ADAMTS10 UPF3B ETFB MTHFR USP9X DUSP6 ALX4 TONSL DOCK3 EXTL3 ADAT3 MED13L RAPSN CLCN4 AHDC1 PIK3R2 CCND2 PMM2 WAC PEX14 ZNF292 COL1A2 PAM16 TOE1 GLI2 KNSTRN TPO CBL NSMCE3 CEP57 TRMT1 TWIST2 WASHC5 TRAPPC4 RPS17 SATB1 MN1 TAC3 FBXW11 SMARCB1 PDPN LTBP3 KYNU STXBP1 PAX3 MADD NMNAT1 GAD1 MYT1L RPS28 SMPD4 FOXL2 RPS15A KIF11 LONP1 CDH11 PIK3CA RIPPLY2 RAI1 RPL18 DEAF1 KAT6B HS6ST1 SLC25A24 PEX1 BBS7 NTNG1 FLII NUP88 SLC3A1 RPL35 INPPL1 PEX26 ZNF41 TRIP12 PIGG PIGQ RPL35A TRIO GLB1 PROKR2 DYNC2I1 MESP2 ZNF81 GLI3 ACOX1 HOXB1 SMC3 LHX4 CHST3 SCN1B SLC12A2 IFT80 CDKN1C WNT5A AGTR2 SNX14 TSR2 ADAMTSL2 DYNC2I2 VANGL2 LINS1 PAK3 EEF1A2 DPF2 ETFA SMO EED GATAD2B TP63 EZH2 SEMA3E XYLT1 SLC6A9 SHOX PITX2 WDR26 HECW2 GNAO1 TBX2 PROP1 DLL3 FOXG1 HS2ST1 UBE3B PEX5 PUS7 MAF MYMK SON RPL5 PLCB3 ANKH P4HTM DUOX2 DOCK6 PCLO HESX1 ALDH6A1 MARS2 ADAMTS3 TFAP2A EDA LUZP1 SRD5A3 INTU RLIM RPS26 TMEM216 DPYD ACTL6A SUFU MAPK8IP3 TRIM37 ANK1 B3GLCT PIGL DICER1 ALG9 SMARCD1 GTPBP2 POGZ SLC25A22 PALS1 SOST SOX4 GNPTAB SLC35C1 SLC18A3 PAX1 PEX11B ARHGEF6 SMARCAL1 FOXC1 SCN2A RMRP KCNE5 NRAS ZBTB24 GPC6 ARSL DOK7 MEGF8 PIGT GNRHR DYNC2LI1 NEUROD2 SMARCE1 PRMT7 KLHL7 SIX2 VARS1 CAMKMT CCBE1 ALG3 NBN KCNAB2 LARP7 MINPP1 MRAS NEPRO EP300 ASXL3 TG PREPL UQCC2 RPS19 FGF8 HES7 KISS1R MLXIPL RPS7 MRPS14 TSPAN7 SKI FRAS1 TRRAP KDM6B MTX2 PIGY TMEM107 RPL11 HSD17B4 MUSK DPYSL5 STEEP1 RNF2 UGP2 ACAN ADGRG6 BMP2 DDX6 PPM1B LIG4 MED13 IL1RAPL1 PIK3C2A CASZ1 PRDM16 DUOXA2 NTNG2 SHH RALGAPA1 CSPP1 YARS1 SP7 SMC1A SLC1A4 BMPR1A TGIF1 CRLF1 HTT SPATA5 HCFC1 TWIST1 CTU2 RAB3GAP1 TNRC6B EFEMP2 KCTD1 MAP3K7 GABRD IFT81 PTH1R PIGN CUL4B HP_ABNORMALITY_OF_THE_NASOLABIAL_REGION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASOLABIAL_REGION ATP6V1E1 FOXP1 SNRPN ATP6V1A ATP6V0A2 NF1 TOR1A USP9X CHST14 MAN1B1 TNNI2 DSE MYBPC1 HP_VENOUS_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENOUS_INSUFFICIENCY PROS1 FIBP PTEN ATP7A TBX1 SEC24C COL3A1 ENG SMAD3 CLCNKB ARVCF COMT PIK3CA SMOC1 FOXC2 KIF5A JMJD1C UFD1 AGGF1 VEGFC GNAQ AEBP1 FLT4 NDP RREB1 RASA1 PIEZO1 GJC2 GBA SLC29A3 SLC12A3 VHL HIRA G6PC3 NOTCH3 EPHB4 GP1BB PROC HP_ARTERIAL_DISSECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTERIAL_DISSECTION TGFBR1 TENT5A COL3A1 KDELR2 MBTPS2 COL1A1 PLOD1 COL5A2 SMAD3 TGFBR2 COL5A1 HP_CEREBRAL_VENOUS_THROMBOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_VENOUS_THROMBOSIS PROS1 HABP2 PGM1 PROC SERPINC1 PDE4D PRKAR1A F2 F13A1 MTHFR HP_CAPILLARY_HEMANGIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAPILLARY_HEMANGIOMA TBC1D24 ARL6IP6 GLI3 AKT1 DIS3L2 KRAS GNAQ POR SRD5A3 VHL DVL1 WNT5A KDR DHCR7 SEC23A DVL3 CREBBP ESCO2 PTEN MGAT2 EIF2AK4 RASA1 EPHB4 FZD2 CCND1 EP300 CD96 PUF60 FLT4 RECQL4 ANTXR1 ATP6V1B2 OFD1 HS2ST1 FGFR1 EXTL3 HP_INCREASED_PULMONARY_VASCULAR_RESISTANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_PULMONARY_VASCULAR_RESISTANCE TBX20 ACTC1 GATA4 TLL1 CAV1 SLC34A2 KCNK3 CITED2 SMAD9 GATA6 BMPR2 MYH6 NKX2-5 HP_DISTURBANCE_OF_FACIAL_EXPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTURBANCE_OF_FACIAL_EXPRESSION NECTIN1 PANK2 CACNA1A GABRG2 SCN1A MECP2 PLPBP MTMR14 GLI3 STXBP1 KCNQ2 GABRA1 SCN2A MSX1 SLC13A5 SCN9A CREBBP PMP22 SCN1B PDE2A PNKD KCNQ3 DNM2 EP300 GATAD2B ATP1A2 ALDH7A1 ATXN8OS IRF6 PRRT2 CP TP63 PCDH19 HP_PROGEROID_FACIAL_APPEARANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGEROID_FACIAL_APPEARANCE FBN1 KCNJ6 LMNA ERCC6 POLR3A WRN ERCC3 LMNB2 ERCC8 ZMPSTE24 ERCC1 GORAB B4GALT7 ERCC4 RNF113A ELN PSMB8 STUB1 MTX2 HP_SPARSE_LATERAL_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPARSE_LATERAL_EYEBROW KAT5 WDR26 PURA TRPS1 KDM6A IRX5 MESD COG6 EDARADD NSUN2 LIG4 HNRNPK MAN1B1 LIPH KRT71 NECTIN1 TBX3 PPP1CB LPAR6 HEPHL1 PQBP1 KRT74 KMT2D TWIST2 KRT25 PIGK HP_ABNORMALITY_OF_COMPLEMENT_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_COMPLEMENT_SYSTEM CFHR1 LMNB2 STAT4 LMNA C1QB CFHR2 C7 C3 GALK1 CFHR3 CFH CFD C1QA SLC7A7 PACS1 C1S DNASE1L3 C9 IRAK1 C8B C8A MASP2 C1QC C6 C4A CFI C5 CFP C4B PRKCD SPP1 CFB HP_SPASTIC_HYPERACTIVE_BLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_HYPERACTIVE_BLADDER KIF5A LRRK2 DNAJC13 GBA EIF4G1 GIGYF2 VPS35 SNCA PLP1 DARS2 HP_HYPOPLASIA_OF_THE_BLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_BLADDER WNT4 GRIP1 MBTPS2 ALG9 MKS1 HP_ABNORMAL_CAROTID_ARTERY_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CAROTID_ARTERY_MORPHOLOGY MYLK NF1 BAZ1B PPARG SMAD2 TGFBR2 GTF2I XRCC2 FANCB NKX2-6 PRKG1 GTF2IRD1 BRCA2 CLIP2 FBN1 SON FOXE3 MYH11 FANCE LOX ABHD11 LDLR MAT2A APOB ELN ZMPSTE24 SLC2A10 HOXA1 ATP7A GTF2IRD2 LMNA FANCI EIF4H LMX1B YY1AP1 TGFB2 PCSK9 COL5A1 FANCF LAT2 SMAD3 TGFB3 COL3A1 STX1A NCF1 FANCC RFC2 SLX4 FKBP6 PLXND1 MFAP5 FANCA ABCG5 CLDN4 DNAJC30 ABCA1 UBE2T VPS37D LDLRAP1 ACTA2 FANCG MLXIPL FANCL TGFBR1 RAD51 NDE1 AEBP1 BUD23 ABCG8 THSD1 BRCA1 TMEM270 METTL27 BCL7B TBL2 STAT1 BRIP1 FANCD2 RFWD3 HEY2 LIMK1 CLDN3 FANCM ERCC4 PALB2 MAD2L2 SMAD4 RAD51C HP_ABNORMAL_VENA_CAVA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VENA_CAVA_MORPHOLOGY SPEF2 CWC27 RAI1 DNAI2 CCDC39 NKX2-6 PRKACB CFAP221 WT1 DNAH1 ODAD2 RSPH4A DNAAF6 BAP1 DNAAF2 KDM3B ODAD3 FADD DNAH9 RSPH9 SRCAP ZNF699 MMP21 MCIDAS DNAH11 DNAAF3 RBM10 FOXF1 CCDC40 CCDC103 UQCRFS1 SLC29A3 DNAAF4 TTC12 DNAAF1 GAS8 DNAJB13 CFAP300 PLXND1 RSPH1 DNAAF5 CCNO DRC1 CCDC65 TMEM260 FOXJ1 OFD1 SPAG1 ZMYND10 ADH5 DNAI1 NME8 NEK10 ODAD1 UBE2A DNAH5 ODAD4 RPGR PRKCD RSPH3 SMG8 MED25 DNAAF11 CFAP298 LRRC56 HYDIN DNAL1 STK36 GAS2L2 HP_ABNORMAL_FACIAL_EXPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FACIAL_EXPRESSION MAPT MRE11 MYL1 PANK2 KCNH1 ATP6AP2 TPM3 KNSTRN TECPR2 SLC13A5 SLC18A2 SLC6A8 DNAJC6 DNMT3B ADH1C IRF6 TP63 MYL2 HOXB1 VAMP1 TXNL4A EIF4G1 STXBP1 DLK1 FKTN POLG2 GBA PLXND1 GATAD2B GIPC1 PIEZO2 EP300 GIGYF2 SMCHD1 PDGFRB SLC6A9 CACNA1A SCN1A HACD1 RYR1 ACTA1 PYROXD1 MSX1 SNCA HSPG2 SGCB CCDC174 PAX6 ERGIC1 TPM2 FMR1 VPS41 FKRP DPM2 TAFAZZIN MECP2 PLPBP GLUD2 PABPN1 MTMR14 DNAJC13 TBP GMPPB CERT1 KCNQ2 GABRA1 RRM2B KCNQ3 GFM2 HPSE2 EIF2AK2 SLC25A4 ATP1A2 ALDH7A1 ATP13A2 FRG1 ITGA7 GABRG2 SLC6A3 SCN2A TK2 DNA2 DMXL2 POLG SNCAIP PURA SCN1B SYNJ1 PDE2A FBXO7 CC2D1A PRNP ATXN8OS DNM2 ITPR1 SPR MYH3 FTL PLA2G6 ATP7A MTM1 KMT2D MYH7 STAC3 HLA-DQB1 NEB GLI3 SLC39A14 SLC30A10 TANGO2 TRIM32 MSTO1 JAM2 ASXL3 ATP1A3 KLHL41 POMT2 UBA1 PIK3CD RTL1 CREBBP BCL11B NECTIN1 SPTBN4 MYH2 ATP6V1A DCTN1 NR4A2 SLC16A2 SLC52A3 PLAA EBF3 ATXN2 PNKD LAMA2 FA2H RIPK4 POMT1 SELENON KCNJ6 VPS35 PCDH19 PDGFB UBA5 GLE1 DUX4 KDM6A TWNK KCNK9 LRRK2 PODXL SCN9A MEG3 PMP22 MAP3K20 REV3L TH SLC20A2 PRRT2 LARGE1 UBE3A CP LRP12 HP_INSPIRATORY_STRIDOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INSPIRATORY_STRIDOR IGHMBP2 KIF22 SLC52A3 SCN4A MIR140 D2HGDH SERPING1 PLP1 FUZ HP_HYPOPLASIA_OF_THE_EPIGLOTTIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_EPIGLOTTIS FGFR3 SF3B4 SETBP1 GLI3 PRRX1 NEK1 FGFR2 FGF10 HP_RECURRENT_HERPES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_HERPES UNC93B1 CIITA CD3E TPP2 CD3D CD247 RFXAP CASP8 STAT1 UNC119 NFKB2 MBL2 WAS BLM IL2RG FCGR3A RFXANK RFX5 HP_LACK_OF_T_CELL_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACK_OF_T_CELL_FUNCTION CIITA AK2 JAK3 RFXAP ADA RFXANK RFX5 HP_DECREASED_SERUM_COMPLEMENT_FACTOR_I http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SERUM_COMPLEMENT_FACTOR_I CFHR3 CFHR1 C1QA C1QC CFI C1QB CFH HP_SEVERE_B_LYMPHOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_B_LYMPHOCYTOPENIA ADA RAG2 RAG1 NFKB2 DCLRE1C HP_ABNORMALITY_OF_HUMORAL_IMMUNITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_HUMORAL_IMMUNITY CFHR1 TNFRSF13B RNU4ATAC SH3KBP1 NRAS GPC4 VPS45 C3 GALK1 CD19 CFHR3 CFH MYD88 STX1A IFNGR1 KNSTRN RAG2 NFKB2 DNMT3B CTLA4 SPINK5 KRAS RAG1 MVK IKBKG HELLS C4A ATP6AP1 KLHDC8B IL4R SLC25A13 TERT ICOS TNFRSF11A CD79A CD81 C5 NTRK1 CARD9 CFP FOXP3 C4B IVNS1ABP TGFB1 IL2RG FAS ITCH RFXANK OTULIN CISD2 STAT4 NFE2L2 CXCR4 TPP2 PGM3 PIK3R1 UNG PTEN EXTL3 CFD CD247 STXBP2 RNF168 RFXAP SLC46A1 ADA ZEB2 TRNT1 IRF2BP2 IL7R DNASE1L3 GPR35 NLRP1 GBA LAT BACH2 C1QC MGAT2 CFI CD70 RFX5 SYK RNF113A TNFRSF13C SLC6A14 IGKC STAT3 BLM CFTR CIITA JAK3 MYSM1 PIK3CD STING1 PSTPIP1 CDCA7 TCF4 ZAP70 MIF ATM STX11 C1QA CTPS1 IL2RB C1S GCLC EPG5 IL21 SON CD79B B2M SLC26A9 CARMIL2 ELANE MS4A1 TNFSF15 ERCC3 LRRC8A GPC3 WAS ADAMTS3 AK2 ERCC2 MTOR PEPD CEACAM3 ADA2 SETX CD3E C1QB IFIH1 COG6 CD28 TNFSF12 COL1A1 BTK FASLG TNFRSF1B CR2 SEMA4D SLC7A7 CCND1 TTC37 PSMB4 MS4A2 TP53 KCNN4 ITK C6 HLA-DRB1 ALG12 MTHFD1 SCARB2 CASP8 RBM8A CD40LG PRKCD GTF2H5 DCLRE1C DCTN4 SP110 NFKB1 PLVAP EDNRA SLC5A6 XIAP CASP10 CEACAM6 HFE HLA-DQB1 CFHR2 IL12A RASGRP1 SLC35C1 SAMD9L SERPINA1 IKBKB LMNB2 TCN2 SH2D1A MAGT1 SMARCAL1 TNPO3 IGLL1 ALB CDSN TIMM8A CNBP FAT4 MPLKIP RMRP UNC13D IKZF1 GSTM3 ZBTB24 TFRC PIGT IRAK4 NHEJ1 LIG4 COL7A1 KRT5 ADAM17 PRF1 MAN2B1 C7 SFTPA2 IL12RB1 STAT5B DOCK8 BCL10 KRT9 C9 IRAK1 PSMB9 CARD11 CD27 CAVIN1 FLNA TARS1 TYK2 TCF3 HMOX1 CD55 IL21R IL6ST MUC5B NCKAP1L RTEL1 PSMB8 SPP1 PLCG2 AICDA CFB MOGS IGHM SKIV2L LMNA RIPK1 KRT14 BLNK CCBE1 PACS1 MMEL1 RAC2 VPS33A CLCA4 NBN C8A GTF2E2 MASP2 HYOU1 LRBA MST1 IRF5 TONSL SLC11A1 KRT1 IL6R SLC9A3 ATP6AP2 CD40 PMM2 HLA-DQA1 LAMTOR2 MSN POU2AF1 C8B SFTPC POMP NSMCE3 CD3D CSNK2A1 SPIB PLA2G7 IL2RA HP_CELLULAR_IMMUNODEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CELLULAR_IMMUNODEFICIENCY PIK3CA TBCE FRAS1 NHP2 SDHC SDHB TINF2 CDCA7 CREBBP ATM CTC1 PTEN SMARCAL1 NPM1 PARN SEC23B TERT RTEL1 HELLS FOXN1 DKC1 NOP10 DNMT3B ZBTB24 RMRP USF3 SDHD WRAP53 ACP5 TERC AKT1 USB1 AK2 EP300 EPG5 KLLN HP_RECURRENT_HAEMOPHILUS_INFLUENZAE_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_HAEMOPHILUS_INFLUENZAE_INFECTIONS RPGR SCNN1G CFI IL2RG CFTR SCNN1A SCNN1B HP_RECURRENT_PROTOZOAN_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_PROTOZOAN_INFECTIONS CIITA RFXANK RFX5 RFXAP IL12RB1 HP_COMBINED_IMMUNODEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMBINED_IMMUNODEFICIENCY TNFRSF13B IL7R CD19 BUB1B RAG1 KNSTRN RAG2 BCL11B TNFRSF13C IL2RG IKZF1 JAK3 MS4A1 ACP5 CHD7 AK2 PTPRC TTC7A EXTL3 ICOS DCLRE1C XRCC4 ADA CR2 LIG4 NFKB2 IRF2BP2 PRKDC MGAT2 RMRP MTHFD1 PIK3CD PGM3 PNP NFKB1 HP_RECURRENT_OPPORTUNISTIC_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_OPPORTUNISTIC_INFECTIONS IL7R RAG2 DCLRE1C IL2RG PTPRC RAG1 JAK3 ZAP70 ADA PNP HP_REDUCTION_OF_NEUTROPHIL_MOTILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCTION_OF_NEUTROPHIL_MOTILITY PMM2 SBDS SRP54 RAC2 EFL1 DNAJC21 LCP2 SLC35C1 HP_RECURRENT_CANDIDA_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_CANDIDA_INFECTIONS SLC39A4 CIITA CD3E CD3D CD247 RFXAP ZAP70 IL12RB1 DOCK8 IL7R RFXANK BTD RFX5 HP_T_LYMPHOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_T_LYMPHOCYTOPENIA FOXN1 RIPK1 FCHO1 KNSTRN RAG2 RAC2 RASGRP1 MAGT1 EPG5 NBN DNMT3B RAG1 IL2RG PIK3CD CIITA JAK3 MCM10 CD3G ZAP70 ACP5 CASP10 NHEJ1 UNC119 LCK LEP WAS IVNS1ABP PTPRC FAS LEPR EXTL3 RFXANK PRKCD CD8A CD247 WIPF1 RFXAP ADA MYC DOCK8 IL7R FASLG RFX5 ITK NSMCE3 IKBKB SYK SP110 PGM3 ATM IL7 IL2RA HP_INCREASED_B_CELL_COUNT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_B_CELL_COUNT PRKCD CASP10 NCKAP1L RASGRP1 FAS FASLG CARD11 HP_RECURRENT_BACTERIAL_SKIN_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_BACTERIAL_SKIN_INFECTIONS PSENEN ADAM17 IL10RA LCP2 BTK UROS NCF1 CYBB LYST DOCK8 IL17RA EGFR GJB2 IL2RG UROD CTSC GJB6 LAMA3 PSEN1 CARMIL2 LAMB3 GATA1 ZAP70 UBE2A MYD88 NCF2 LAMC2 CYBA HP_DECREASED_PROPORTION_OF_CD4_POSITIVE_HELPER_T_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_PROPORTION_OF_CD4_POSITIVE_HELPER_T_CELLS PRKCD RFXAP MYC KNSTRN IL7R IL2RG RASGRP1 MAGT1 EPG5 FASLG RFX5 ITK CIITA NSMCE3 IKBKB FAS CASP10 UNC119 LCK PIK3CD LEP WAS IVNS1ABP PGM3 ATM LEPR EXTL3 RFXANK HP_DECREASED_PROPORTION_OF_CD8_POSITIVE_T_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_PROPORTION_OF_CD8_POSITIVE_T_CELLS WAS IL7R NSMCE3 IL2RG CD8A IKBKB WIPF1 CD3G EXTL3 ZAP70 HP_DECREASED_SERUM_COMPLEMENT_FACTOR_B http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SERUM_COMPLEMENT_FACTOR_B CFHR3 CFHR1 CFI CFH CFB HP_RECURRENT_GRAM_NEGATIVE_BACTERIAL_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_GRAM_NEGATIVE_BACTERIAL_INFECTIONS C6 CFI CFTR C7 ITGB2 C5 NCF1 IL12RB1 CYBB RPGR SCNN1G MBL2 NCF2 IL2RG SCNN1A SCNN1B CYBA C8B CFB HP_DECREASED_SERUM_COMPLEMENT_C3 http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SERUM_COMPLEMENT_C3 CFHR1 LMNB2 STAT4 CFI CFHR2 C3 CFHR3 CFH PRKCD PACS1 SPP1 IRAK1 HP_RECURRENT_SINOPULMONARY_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_SINOPULMONARY_INFECTIONS SPEF2 DNAI2 CCDC39 SRP54 CFAP221 GFI1 DNAH1 ODAD2 RSPH4A DNAAF6 PLCG2 DNAAF2 PIK3CD ODAD3 DNAH9 RSPH9 DOCK8 TFRC MCIDAS DNAH11 DNAAF3 CCDC40 CCDC103 STAT3 DNAAF4 TTC12 NBN DNAAF1 GAS8 DNAJB13 ATP6V0A2 CFAP300 RSPH1 DNAAF5 CCNO DRC1 CCDC65 ELANE FOXJ1 OFD1 SPAG1 BACH2 ZMYND10 DNAI1 NME8 TNFRSF13B NEK10 ODAD1 TCIRG1 DNAH5 CASP8 ODAD4 RPGR CFTR RSPH3 DNAAF11 CFAP298 LRRC56 HYDIN DNAL1 STK36 GAS2L2 NFKB1 HP_RECURRENT_NEISSERIAL_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_NEISSERIAL_INFECTIONS C6 CFI MBL2 C7 C5 C8B CFB HP_IMPAIRED_T_CELL_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_T_CELL_FUNCTION ICOS SLC39A4 TNFRSF13B TBX1 SEC24C COG6 UMPS WIPF1 ARVCF COMT CR2 RASGRP1 MRTFA CTPS1 JMJD1C SMARCAL1 UFD1 CD3E PNP CD19 DGCR6 RREB1 TNFRSF13C ESS2 DGCR2 HIRA TGFB1 AK2 DGCR8 GP1BB HP_ENLARGED_POSTERIOR_FOSSA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_POSTERIOR_FOSSA LARGE1 GPC4 CNOT3 WDR73 BUB3 BUB1B SIX3 POMT2 FLVCR2 TMEM231 POLR3A EBP FKRP FGFR1 VPS51 SLC13A5 KRAS NPHP3 OFD1 STIL ZIC1 TCTN3 GLI2 NUP88 C2CD3 FAR1 TMEM216 KCNQ1OT1 SH2B1 POLR2A ZIC2 POMK DYNC2I1 BCOR DAG1 TCTN1 ATP6V0A2 IFT80 RAC1 ALDH18A1 CSPP1 APC2 DYNC2I2 PSAT1 DPF2 FTO TMEM67 SEMA3E ARID1B DYNC2H1 ATP6V1B2 SMARCB1 PIGN COG1 MKS1 SLC35A2 TUBB SHH PPP1CB NDUFC2 GPC3 HRAS SH3PXD2B RPGRIP1L POMGNT2 POMT1 FOXC1 CDC42 PLPBP FLNB AFF3 KIAA0586 B9D1 ASXL1 SMARCC2 IGF2 PITX1 MYOD1 NRAS KIF7 DPH1 DISP1 CDH2 SMARCD1 ATP6V1A ALG3 FGF8 CHD7 ALDH7A1 TXNDC15 POGZ EVC2 B4GAT1 OPHN1 ARID1A TMEM237 SLC5A6 TMEM107 SOX4 ARID2 BUB1 SLC18A3 USP9X PLG AP1S2 NID1 WDR35 NSD1 DOK7 ACADVL CEP290 DENND5A SMARCE1 RPGRIP1 COL4A1 MAN2B1 WDR81 CCDC22 PACS2 FKTN ABCC9 B9D2 CRPPA CDKN1C DHCR7 SETD2 SMARCA4 CPT2 B4GALT1 EVC PIEZO2 WASHC5 HYLS1 PMM2 TBC1D24 MUSK B3GALNT2 PIGU PHGDH TIMMDC1 KCNQ1 SMG9 CEP57 CC2D2A DPYSL5 CEP120 MAB21L1 KATNB1 POMGNT1 GLI3 ATP6V1E1 RAPSN PMPCA BRF1 TRIP13 TMEM138 TCTN2 ARMC9 EDEM3 RXYLT1 RNF113A SOX11 HP_CALVARIAL_OSTEOSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALVARIAL_OSTEOSCLEROSIS ANKH TBCE TCIRG1 LRP5 FAM111A KL HP_ABSENT_HYPOPLASTIC_PARANASAL_SINUSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_HYPOPLASTIC_PARANASAL_SINUSES SFRP4 AMER1 FUCA1 PDE4D PRKAR1A RUNX2 SIX2 SMCHD1 HP_CALCIFICATION_OF_FALX_CEREBRI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALCIFICATION_OF_FALX_CEREBRI SUFU PTCH2 ABCC6 DDR2 PTCH1 COL11A1 HP_CRANIOFACIAL_OSTEOSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRANIOFACIAL_OSTEOSCLEROSIS SOST ANKH AMER1 TCIRG1 TBCE PLEKHM1 CLCN7 TGFB1 LRP5 SLC39A14 FAM111A KL HP_FACIAL_HYPEROSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_HYPEROSTOSIS PTDSS1 GJA1 AMER1 SOST AKT1 HP_FLAT_OCCIPUT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLAT_OCCIPUT TMEM70 SNRPN CYP2R1 SHH ERF PEX6 KIF11 UBE3B WDR73 PPP1R21 LEMD3 SIX3 RPS23 SATB2 PEX11B PEX16 CYP27B1 PEX5 FGFR1 UBE3A DPM1 PEX1 OTUD6B MAN1B1 SETD1B EHMT1 METTL23 STIL ZIC1 AMER1 PEX2 GLI2 INPPL1 MCTP2 PEX26 DISP1 RALGAPA1 PEX13 FGF8 SH3PXD2B HK1 OCA2 PEX14 ZIC2 ADSL MAN2B1 SLC35A1 VDR PEX3 PEX10 SLC34A3 TAF1 PEX12 PEX19 PTCH1 OCRL TUBB3 HP_DECREASED_CALVARIAL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CALVARIAL_OSSIFICATION ZMPSTE24 COL1A1 FGFR2 LMNA COL1A2 PPIB IFT43 ALPL WNT7A CRTAP INTU HP_ABNORMAL_EPIGLOTTIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EPIGLOTTIS_MORPHOLOGY DYNC2I1 FGFR3 SF3B4 DYNC2I2 SETBP1 WDR35 GLI3 EIF4A3 FOXE1 ASAH1 NEK1 KRT14 C2CD3 FGFR2 IFT80 PRRX1 DYNC2H1 KRT5 SERPING1 FGF10 HP_SECONDARY_MICROCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SECONDARY_MICROCEPHALY SEPSECS SMPD4 NDUFS1 TAF2 WDR73 SATB1 PIGA ZNHIT3 SLC12A5 SLC25A22 DPM1 RNASEH2A PCDH12 GABBR2 SLC18A2 STXBP1 GABRB2 DOLK PNPO SPTAN1 EMC1 CTNNA2 ERCC8 VPS11 SLC39A14 SNRPN CACNA1B SMC3 EXTL3 MFF ALG1 QARS1 RAB18 ATP6V0A2 PUS3 ZEB2 NEXMIF FGF12 WDR37 MECP2 TSEN2 ZSWIM6 SDHD SCN1A MGAT2 CDKL5 EIF2B5 PARS2 JAM3 TRAPPC12 EP300 NTRK2 NDUFA11 NGLY1 CDC42 PPP1R12A ACBD5 FOXG1 CHMP1A COG1 TRAPPC9 SCN8A TRAPPC6B MFSD2A WWOX PCLO IQSEC2 EFTUD2 PSAT1 DPM2 EEF1A2 EIF2B2 SLC25A19 CERT1 RARS2 CARS2 RNASEH2C CLP1 ATP6V1A GLYCTK PNKP ALG12 UBE3A ARNT2 COG7 SLC2A1 AMPD2 MED17 PAFAH1B1 COG2 COG8 ACTG1 CDC45 CC2D1A SLC1A4 GRIA2 PMPCB POMK TSEN54 NTNG1 ASNS CNP GABRA5 FOXRED1 PLPBP OCA2 VARS1 MPC1 SNAP29 EIF2B1 CREBBP COQ9 HSPD1 DEGS1 TBC1D24 TBCD TUBGCP2 GRIN2A RUSC2 EXOC2 GOT2 ACO2 KIF5C HTRA2 GLS HNRNPH2 ARFGEF2 PYCR2 SMC1A DCX PPT1 MDH1 FAR1 MICOS13 COG6 ERCC6 C2orf69 EXOSC3 ALG9 TRIO PLAA STAMBP TMEM165 PTRH2 PUF60 CASK VPS53 RAB3GAP2 EIF2B4 ATP6V1E1 UBA5 TBC1D20 BRAT1 TSEN15 CLTC TOE1 TRAPPC2L PLEKHG2 ATP10A DHFR EIF2B3 RNF113A CCDC88A TSEN34 TREX1 GPT2 HP_PROMINENT_METOPIC_RIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_METOPIC_RIDGE ERCC2 PURA GNPTAB TWIST1 INTU KCNQ1 ALG9 SMG9 TBCK MAF SC5D KANSL1 INS ERCC6 STXBP1 KDM5B NOTCH3 HNRNPU GCK TOGARAM1 ERMARD ZNF462 KCNQ1OT1 RTTN ABCC8 ADSL LMX1B HNRNPK ERCC5 KDM4B ACTB ZNF292 ASXL1 MAP1B CDKN1C IGF2 PPP2R1A ADARB1 ACTG1 KCNJ11 PDX1 STAT3 NUP188 ERCC1 MAPK1 FOXG1 CDC6 SMARCD1 ADAMTSL1 HP_REFRACTORY_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REFRACTORY_ANEMIA PTEN BMPR1A GREM1 CP TBXAS1 DDX41 HP_CHRONIC_MYELOGENOUS_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_MYELOGENOUS_LEUKEMIA BCR ABL1 JAK2 THPO MPL HP_INCREASED_MEGAKARYOCYTE_COUNT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_MEGAKARYOCYTE_COUNT SH2B3 TP53 JAK2 MPL SF3B1 TET2 CALR HP_INCREASED_MEAN_CORPUSCULAR_VOLUME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_MEAN_CORPUSCULAR_VOLUME RPS29 MTRR RPS28 RPL11 RPS10 GATA1 RPS26 ANKRD11 RPS15A DNAJC21 RPS24 RPL27 ABCB6 ADA2 RPL26 KIF23 KCNN4 RPL18 CBLIF PIEZO1 RPL15 RPL5 EFL1 TSR2 RPS19 RPS20 SAMD9 MMADHC SBDS SLC4A1 RPS7 SRP54 RPL31 HBB RPL35 RPS17 RPS27 RPL35A SAMD9L MDM4 HP_DISSEMINATED_INTRAVASCULAR_COAGULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISSEMINATED_INTRAVASCULAR_COAGULATION SERPIND1 RARA RYR1 RASA1 TBL1XR1 ZBTB16 BCOR STAT5B HELLPAR NABP1 NUMA1 LIPA NPM1 PROS1 STAT3 PML IRF2BP2 NFS1 NLRC4 CFI FIP1L1 CFH CD46 PRKAR1A HP_PYRIDOXINE_RESPONSIVE_SIDEROBLASTIC_ANEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PYRIDOXINE_RESPONSIVE_SIDEROBLASTIC_ANEMIA FANCL RAD51 FANCF XRCC2 FANCB FANCC SLX4 BRCA1 PNPO FANCA BRIP1 FANCD2 RFWD3 UBE2T BRCA2 FANCM ERCC4 FANCG PALB2 FANCI FANCE MAD2L2 RAD51C HP_LYMPHOPROLIFERATIVE_DISORDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LYMPHOPROLIFERATIVE_DISORDER CD27 MYD88 ITK NRAS LRBA CD70 ZAP70 CTPS1 PRKCD MCM4 IL2RG MAGT1 SMARCAL1 ADA2 KRAS HP_SPONTANEOUS_HEMOLYTIC_CRISES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONTANEOUS_HEMOLYTIC_CRISES SLC4A1 SPTA1 SLC2A1 EPB42 GPI SPTB ANK1 HP_BONE_MARROW_HYPOCELLULARITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BONE_MARROW_HYPOCELLULARITY BRCA2 TET2 MYSM1 WRAP53 SBDS FANCI NOP10 TINF2 ACD RASGRP1 VPS33A TGFB1 PARN TERT RTEL1 FANCF DKC1 CLCN7 IFNG IVD DNAJC21 NHP2 GNAS TERC CASP10 CLPB USB1 WDR19 FLI1 FAS PRF1 ADA2 SRP72 RPL26 PRKCD NBN FANCL BRIP1 LBR FANCC ERCC6L2 DDX41 UBE2T CTC1 FANCD2 SF3B1 EFL1 FASLG SMARCAL1 NPM1 SAMD9 RPS14 ERCC4 SRP54 ZCCHC8 ADH5 GATA2 MAD2L2 PGM3 TBXAS1 MDM4 HP_REDUCED_PROTEIN_C_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_PROTEIN_C_ACTIVITY NGLY1 MPI PROC ALG8 ALG12 DPM1 ALG6 HP_MYELOPROLIFERATIVE_DISORDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYELOPROLIFERATIVE_DISORDER MPL RUNX1 SH2B3 BCR SRSF2 GATA2 PDGFRA ALAD JAK2 CALR GATA1 ASXL1 ABL1 TET2 PDGFRB KIT HP_CHRONIC_LYMPHATIC_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_LYMPHATIC_LEUKEMIA PIK3R1 RNASEH2C SRSF2 RNASEH2B RNASEH2A ADAR TREX1 MEFV ASXL1 IFIH1 TET2 SAMHD1 KIT HP_ABNORMALITY_OF_THE_METOPIC_SUTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_METOPIC_SUTURE ERCC2 PURA OTUD5 GNPTAB FGFR2 TWIST1 INTU KCNQ1 ALG9 SON GLI3 SMG9 TBCK PTCH1 MAF SC5D KANSL1 WDR35 INS ERCC6 STXBP1 KDM5B DDB1 NOTCH3 HNRNPU GCK TOGARAM1 ERMARD ZNF462 KCNQ1OT1 RTTN ABCC8 SIX2 ADSL LMX1B HNRNPK ERCC5 KDM4B ACTB ZNF292 ASXL1 MAP1B CDKN1C ASXL3 HERC1 IGF2 PPP2R1A ADARB1 ACTG1 KCNJ11 PDX1 STAT3 NUP188 FREM1 ERCC1 SETBP1 MAPK1 FOXG1 CDK8 CDC6 SMARCD1 ADAMTSL1 HP_CHRONIC_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_LEUKEMIA ABL1 PIK3R1 RNASEH2C SRSF2 RNASEH2B MPL RNASEH2A BCR ADAR TREX1 MEFV ASXL1 WIPF1 JAK2 IFIH1 THPO TET2 SAMHD1 WAS KIT HP_IMBALANCED_HEMOGLOBIN_SYNTHESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMBALANCED_HEMOGLOBIN_SYNTHESIS HBA2 HBB CD151 HBA1 ATRX HP_ABNORMALITY_OF_BONE_MARROW_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_BONE_MARROW_CELL_MORPHOLOGY ATR NRAS COQ2 BRCA2 GP1BB GFI1 SLCO2A1 ACD TGFB1 RNASEH2A DYNC2LI1 KRAS TERT KIT FANCB MPL IVD SH2B3 DNAJC21 PRF1 SBDS RTEL1 TERC ATM CBL CLPB CUBN RPL18 STN1 GFI1B FAS FANCA FIP1L1 ITCH RFXANK NHP2 CXCR4 FANCC MAN2B1 SRSF2 STXBP2 RFXAP SLC46A1 NABP1 GBA BACH2 RARA JAK2 BCOR MMADHC MAD2L2 ASXL1 MYSM1 NUMA1 ALPK1 FARSB WRAP53 ANKRD26 SRP54 GATA2 ACP5 STX11 NLRC4 MMAB PARN CIITA TNFRSF1B DKC1 IFNG NOP10 TBL1XR1 ZNF699 LIG4 RFWD3 GNAS MPIG6B ADA2 FANCL BRIP1 LBR COG6 TINF2 ERCC6L2 PCCA TET2 SLC7A7 SF3B1 EFL1 CTLA4 NPM1 SLC35A1 RPS14 RFX5 ERCC4 ITK ZCCHC8 ADH5 GATA1 HLA-DRB1 MTHFD1 SCARB2 UBA1 TCIRG1 PML IRF2BP2 SP110 PIGA PGM3 TALDO1 PSTPIP1 PALB2 XIAP RECQL4 FANCI MMAA SAMD9L NAXD TCN2 SMARCD2 SH2D1A RASGRP1 EVC CALR SLX4 UNC13D FANCF IKZF1 MRPS7 GP1BA TNFSF11 SHOC2 CASP10 LMBRD1 GLI1 SRP72 RUNX1 ZBTB16 DDX41 UBE2T FANCD2 SMARCAL1 SAMD9 CD27 HOXA11 OSTM1 LPIN2 TBXAS1 MDM4 CXCR2 MTRR TP53 CCND1 LYST SRC RAC2 EVC2 VPS33A GNA14 NBEAL2 CD28 CLCN7 LRBA TNFRSF4 HAVCR2 STAT5B FANCE USB1 PCCB WDR19 FLI1 GP9 PRKAR1A RPL26 PRKCD NBN HPGD XRCC4 AMN MYC CTC1 ANAPC1 ELANE FASLG DHFR RAB27A STAT3 HP_MULTIPLE_RENAL_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_RENAL_CYSTS PMM2 TBX1 SEC24C BAZ1B TSC1 TSC2 GTF2I COMT VHL GTF2IRD1 JMJD1C CLIP2 COL4A1 UFD1 ABHD11 PEX13 CCND1 LRP5 ELN PRKCSH GTF2IRD2 NOTCH2 GP1BB EIF4H LAT2 FLNB BMPER STX1A NCF1 RFC2 FKBP6 ARVCF STK11 CLDN4 DNAJC30 SEC63 VPS37D MLXIPL SALL1 BUD23 RREB1 TMEM270 METTL27 BCL7B TBL2 DHX16 HIRA OCRL DACT1 LIMK1 CLDN3 HP_REDUCED_RENAL_CORTICOMEDULLARY_DIFFERENTIATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_RENAL_CORTICOMEDULLARY_DIFFERENTIATION DHX16 BSND NIPBL DZIP1L PKHD1 HP_RENAL_MAGNESIUM_WASTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_MAGNESIUM_WASTING ATP1A1 KCNJ10 SLC12A3 CLDN19 IFT122 CLDN16 FXYD2 HP_HEMOLYTIC_UREMIC_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMOLYTIC_UREMIC_SYNDROME CFHR1 MTRR PRDX1 CFI CFB CD46 MMACHC CFH C3 THBD CFHR3 DGKE ADAMTS13 HP_DUPLICATION_OF_RENAL_PELVIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUPLICATION_OF_RENAL_PELVIS SLC6A17 ZEB2 GPC4 KCTD1 GPC3 HP_RENAL_CELL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_CELL_CARCINOMA PIK3CA SRC SDHD AURKA SDHC KEAP1 SDHB APC CDC73 VHL PTEN HNF1B BUB1B FLCN CHEK2 BAX BAP1 PRCC TSC1 SEC23B TP53 TSC2 DLST CCND1 DICER1 PBRM1 FH AAGAB PTPN12 AKT1 MLH3 FGFR3 IFNG COL14A1 MET TLR2 DCC SDHA MAX PTPRJ RAD54B TMEM127 STK11 HNF1A FOXE1 NOD2 SLC25A11 DLC1 TFE3 BUB1 MCC KIF1B RET SDHAF2 OGG1 NRAS MINPP1 PLA2G2A USF3 FN1 HABP2 CTNNB1 EP300 PDGFRL RNF139 AXIN2 NF1 BRAF KLLN LMNA MDH2 HP_SPOTTY_HYPERPIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPOTTY_HYPERPIGMENTATION KRT5 LYST CRIPT BLM FERMT1 BANF1 SRD5A3 KRT14 HP_HYPERPIGMENTATION_IN_SUN_EXPOSED_AREAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPIGMENTATION_IN_SUN_EXPOSED_AREAS HFE HPS1 POLH MC1R DSTYK OCA2 UROD HP_PATCHY_PALMOPLANTAR_HYPERKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATCHY_PALMOPLANTAR_HYPERKERATOSIS KDSR GJA1 GJB4 DSP GJB3 HP_SPOTTY_HYPOPIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPOTTY_HYPOPIGMENTATION CRIPT KRT14 KRT5 BLM FERMT1 ABCB6 UBE2A EBP HP_GENERALIZED_HYPERKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_HYPERKERATOSIS PIK3CA PTEN SDHC AKT1 SDHB GJB3 USF3 SDHD FUCA1 LMNA GJB2 ZMPSTE24 GJB6 KLLN SEC23B HP_LARGE_CAFE_AU_LAIT_MACULES_WITH_IRREGULAR_MARGINS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_CAFE_AU_LAIT_MACULES_WITH_IRREGULAR_MARGINS GNAS MEN1 CDKN1A CDKN1B CDKN2C CDKN2B HP_ABNORMAL_TRACHEOBRONCHIAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TRACHEOBRONCHIAL_MORPHOLOGY TNFRSF13B GTF2I B3GALT6 FCHO1 MGP RTEL1 CFAP221 DNAH1 ARNT2 FOXI1 FANCB BMPER DSP DNAAF1 TERT DDRGK1 TAPBP MUC5B HOXD13 RSPO2 IL2RG ARSL EGFR SOX9 DNAL1 NHP2 MYRF CCNO PIK3R1 DNAJB13 TET2 ZEB2 ICOS FLNB FREM2 LAT BACH2 DNAAF3 ARHGEF1 CCDC65 ODAD1 TBL2 RFWD3 RSPH3 ERCC4 CYBB KRAS ERF MAP3K8 GRIP1 PROKR2 CCDC39 FGFR2 CCDC103 SLC26A4 PARN FAT4 B2M DKC1 FOXF1 RET ZNF699 DNAH11 FCGR2A WDR1 EHMT1 SCNN1B CFAP300 HLA-DRB1 ERBB2 FANCL DNAAF11 LBR GAS8 NCF1 TNFSF12 TINF2 NEK10 TGFB1 CR2 COL4A5 DNAJC30 PDGFRB CD79A SOX3 STN1 CHD7 BCL7B POLA1 DNAH5 RPGR GREB1L NFKB1 ATM USP9X SPECC1L SOX2 NFKB2 POLR1D GMNN RAB3GAP2 RSPH4A DCHS1 DNAAF2 BRCA2 MAGT1 IGLL1 POR DNAH9 KCNJ10 HLA-DPB1 ELN KIF22 SLC29A3 WBP11 DNAAF4 EIF4H TTC12 COL2A1 HRAS MYH11 FANCA CFTR AFF4 DNAAF6 POLR1B BUD23 DNAI1 LRRC56 ITGA8 FOXJ1 RAI1 KANSL1 CLDN3 CYBA IGHM RIPK1 SFTPA2 KRT14 IL17RA FBN2 RAC2 NBN ODAD3 LRBA DDR2 ORC4 MS4A1 EXTL3 ABCA3 FANCF SFTPC POLR1C CTC1 STK36 TRIM2 BRCA1 TMEM270 IRF9 HAAO CXCR4 LTBP3 STX3 KMT2C RAD51C KEAP1 AHDC1 ODAD2 GTF2IRD1 MYCN DEAF1 DNMT3B HYLS1 CTLA4 TAP1 RSPH1 FLII TAP2 CD81 TERC MPEG1 EMC1 IDS TPP2 PGM3 TCOF1 CD8A SLC12A2 SLX4 FASLG RSPH9 DRC1 RAC1 CCDC40 FGFR1 CD19 IDUA WNT3 NCF2 SYK TNFRSF13C METTL27 SEMA3E BLM SCNN1A KIF7 SPEF2 WDR26 XRCC2 SFTPA1 HDAC4 SLC34A2 IRF1 FGF20 CD79B AMER1 NOTCH3 CARMIL2 NOP10 CFAP298 LRRC8A UNC119 COL4A6 PRRX1 HK1 ODAD4 SMARCA2 CYBC1 FANCC RFC2 PRKN NCF4 UBE2T EBP NPM1 SLC26A2 MCIDAS RAD51 PPP2R1B NME8 ATP11A SNRPB ORC6 HYDIN MAD2L2 ERCC6 ADAMTSL2 DICER1 SMAD4 RASGRP1 ZNF341 RPL5 ZIC3 CLIP2 DPP9 FANCE PIK3CD RMRP ABHD11 SCUBE3 SCNN1G DNAI2 KRT5 HESX1 FANCI SPAG1 LAT2 STX1A BTNL2 PAX3 FANCD2 ZMYND10 IL21R IL6ST STAT1 NCKAP1L LIMK1 IQSEC2 FRAS1 TRRAP GAS2L2 CASP8 BAZ1B BLNK RIN2 OTX2 GNPTAB BRAF PIK3CA WRAP53 DHCR7 LTBP4 RALGAPA1 WNT7A USB1 GTF2IRD2 FKBP6 TCF3 DNAAF5 FAM13A CLDN4 PRKCD VPS37D FANCG MLXIPL OFD1 PCNT SLC22A18 CYP2A6 BRIP1 MAP3K7 GLMN FANCM IRF8 PALB2 TONSL HP_APLASIA_HYPOPLASIA_OF_THE_FEMUR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_FEMUR CANT1 TRPV4 AGPS POLR3A TRAPPC2 IFNGR1 SLC26A2 IHH SHOX CCN6 AMMECR1 RTL1 TBX15 RNU4ATAC SUCLG1 SLC10A7 RSPRY1 BHLHA9 COL2A1 COMP NANS MEG3 PUF60 SALL4 TRAF3IP1 TAPT1 EXOC6B WNT7A TONSL FGFR3 FN1 BMPR1B ZBTB16 MATN3 XYLT1 TBX4 FLNB MMP9 POP1 PEX5 CHD4 IDUA CHST3 B3GALT6 GDF5 PIK3C2A IFT140 SLC39A13 CFAP410 AIFM1 RUNX2 ALG12 TMEM67 CTC1 DLK1 COL11A1 POC1A DDRGK1 MTX2 HP_ACCELERATED_SKELETAL_MATURATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACCELERATED_SKELETAL_MATURATION XYLT1 TRPS1 GPC4 SLC35D1 PDE4D B3GAT3 ABCC9 MEN1 TSHR KCNJ8 SUZ12 ALMS1 ACAN SLC26A2 KCNQ1 INPPL1 GLI3 RMRP PTCH1 KMT2A SLC10A7 NFIX H1-4 FOS ARCN1 NSD1 B4GALT7 GPC3 GNAS LEP CYP11B1 KCNQ1OT1 CAV1 GPX4 LEPR LHCGR CAVIN1 CANT1 AGPAT2 GPR101 CHST3 CDKN1C PRKAR1A SMARCA2 IGF2 MKRN3 AIP DDOST SETD2 APC2 HSD11B1 RNF135 EZH2 TET3 PTH1R ASXL2 EED CSGALNACT1 BSCL2 SHANK3 PPARG MC2R DDX6 CYP19A1 INSR HP_BILATERAL_CAMPTODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_CAMPTODACTYLY SETD2 CHRNG POLR3GL APC2 NSD1 HP_THORACOLUMBAR_KYPHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACOLUMBAR_KYPHOSIS MAN2B1 MED12L AMER1 NPR2 FGFR3 CDH11 POP1 FLNB GUSB GBA NEPRO GNPTAB KIF22 CCN6 SLC26A2 EXTL3 MGAT2 LHX3 HP_BROAD_LONG_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_LONG_BONES NXN MYT1L KMT2E CCDC32 GPC4 SLC35D1 KCNJ8 KCNH1 FLNB KNSTRN INPPL1 AMMECR1 RTL1 GLI3 ROR2 NTNG1 EXOSC2 GNAS GATA4 WDFY3 PIGQ OTUD6B FGFR2 RAB33B CHST3 SCN1B SLC12A2 RBM8A EFNB1 NOG SUMF1 GRIA4 PRKD1 EZH2 COL1A1 EED GATAD2B KCNA1 ACTL6B PIGP KCNMA1 EP300 ZNF141 XYLT1 COL10A1 MEIS2 HUWE1 GNAO1 COL11A1 HS2ST1 SATB2 SALL1 BPTF MAP3K7 CDKL5 FGFR1 PUS7 PTPN23 CASK UBR7 HHAT SALL4 SMO DVL1 CTCF MEG3 GPC3 ADNP MED12 DVL3 FGFR3 SIK1 GJA5 GJA1 RLIM LMBR1 IFT122 SHH MEGF8 ACTL6A MAPK8IP3 WNT5A HPDL PUF60 SLC26A2 BCORL1 PTEN KDM4B DNMT3A PSMD12 FGF9 FLNA AGO2 MED25 COL2A1 SLC25A22 PALS1 JARID2 USP9X DMXL2 TMEM251 BICRA RAB23 B3GAT3 TRIM8 SMOC1 PDE4D ZMIZ1 SHOX SNIP1 SCN2A WASF1 HOXD13 NEUROD2 IFIH1 ACAN PNKP GJA8 TRIP12 CREBBP NSUN2 NEPRO SVBP SMARCA2 TANC2 B3GALT6 MED27 TBX5 FBN1 ALX4 BGN CNOT3 PIK3CD DACT1 TCF20 PYCR2 SETD5 GDF5 NPR2 KAT8 ABCC9 DPYSL5 COL1A2 SUZ12 PACS1 BMP2 DDX6 ARX LIG4 MED13 DDR2 NTNG2 ADAMTS10 MSX2 SIAH1 WDR19 FLI1 RNU4ATAC DOCK3 EXTL3 HSPG2 BMPR1A NSD1 HTT TWIST1 TNRC6B TRMT1 GPC6 TRAPPC4 KIF22 SATB1 FBXW11 G6PC3 DLK1 STXBP1 MADD HP_ABNORMAL_VERTEBRAL_SEGMENTATION_AND_FUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VERTEBRAL_SEGMENTATION_AND_FUSION FLNA BMPER GDF3 MAFB VANGL1 MEOX1 SALL4 GDF6 FUZ FGD1 CHN1 HP_POSITIONAL_FOOT_DEFORMITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSITIONAL_FOOT_DEFORMITY ERCC2 ATR TCTN2 COL1A1 HDAC8 B3GALT6 SIX3 SATB2 CCDC47 MYH3 COL12A1 TPM3 NDE1 FGFR1 PDHA1 BMPER AMMECR1 AP4E1 NEFL EBP KANSL1 GORAB MCTP2 LMNA GCH1 OTUD6B CRIPT SLC25A19 DHCR24 SOX9 ZIC2 SMOC1 SPTBN1 TP63 TCTN1 MAN2B1 RYR1 SMAD3 SPECC1L MTRFR B9D1 PYCR1 ZFYVE27 FLNB TRPV4 COG4 COG8 SC5D EZH2 PLXND1 ERCC1 GPC4 MEGF10 ALDH18A1 SYT1 CHST14 OTUD5 HACD1 GAN TRAIP GUSB CTBP1 COG1 MKS1 TBX15 SLC35A2 GLI3 SNCA HSPG2 FAT4 SHH NALCN PEX5 SALL4 RINT1 STXBP1 ZNF699 ZSWIM6 GPC3 UNC80 MYH7 AP4M1 RPGRIP1L FGFRL1 MPZ EXT1 CPLX1 TPM2 TMEM67 IRF6 COL1A2 MEGF8 HSPB1 ATRX COL3A1 TBX4 PITX1 MYLPF HNRNPK SLC26A2 DISP1 MSX1 ITGA8 CEP55 COL5A2 FKBP14 ENTPD1 FGF8 CD96 CHD7 UBE2A NEK8 TXNDC15 EVC2 CHN1 SHROOM4 RAD21 ITGA7 SPEG SEC24C LMX1B COLQ L1CAM B3GAT3 SMAD6 COMT PIGB RAB3GAP2 DONSON PSAT1 JMJD1C DCHS1 ORC1 RECQL4 KDM5C TMTC3 FBXO7 DMPK HSD17B4 FGD4 KIAA1109 GRIA2 GSC NADSYN1 GDF5 HRAS SEC31A COL2A1 ATAD1 B9D2 TOR1A FUZ MYPN DHCR7 TSPOAP1 SETD2 ECEL1 RUSC2 STIL BRD4 CANT1 DES PI4KA VANGL1 NEB DPYS SETBP1 PLOD1 FBN1 DHX16 HIRA EVC TGFB2 SCARF2 GLI2 PIEZO2 FLNA COL6A1 LGI4 TBX1 ATP6V1A TMEM216 GPX4 MYMK LMBR1 DLL4 PLEKHG5 PMP22 POLR3GL PLA2G6 KAT6B CC2D2A B4GALT7 PUF60 RBM10 ERMARD ALG8 ZC4H2 FKBP10 PPP3CA BMPR1B ADAT3 MED13L HK1 USP8 NOTCH1 GLE1 KY PLOD2 CHRNG ARVCF LETM1 MTTP KIDINS220 FGD1 TRIM2 NEK9 LIMS2 LAMB2 RREB1 REV3L EDEM3 HAAO SMS KYNU CHRM3 CEP290 NSD2 CTH GAD1 WDR73 ARHGAP31 MAFB RBPJ VIPAS39 TMEM231 EOGT POR ERCC5 MTMR2 PEX1 ESCO2 DOK7 ERGIC1 TCTN3 ESS2 EIF2S3 ALG14 MYL2 PTEN BCOR TNNT3 CHST3 NELFA BICD2 SNX14 CSPP1 APC2 WARS2 BRPF1 NIPBL MAPK1 TH SEMA3E DGCR8 SLC6A9 LIFR RSPO2 ZNF148 MUSK FOXG1 CHMP1A ACTA1 DYM TMCO1 MFSD2A SCYL1 IGHMBP2 AMER1 MYBPC1 SYNE1 ERCC6 SBF2 SH3PXD2B BIN1 NT5C2 COL6A3 SMARCA2 TGDS TAFAZZIN LONP1 TRPS1 TTN ANK1 HBA2 TAF1 ALG12 NECTIN1 ORC6 RBM8A TNNI2 GTPBP2 PIGG TGFB3 TMEM237 C12orf57 RAB11B TMEM107 RAI1 RAB23 VPS33B GNPTAB NDRG1 TWIST2 PRUNE1 FGFR2 ATP6V0A2 ARSI EHMT1 DGCR2 NSD1 RPGRIP1 IFIH1 WNT7A CCBE1 ALG3 DST STAC3 COQ8A CTDP1 ATP6V1E1 COL6A2 PEX26 DSE SAMD9 COL5A1 GZF1 EIF4A3 DGCR6 TGFBR1 MYH8 SMC1A RIPK4 NKAP GDAP1 HYLS1 PEX2 JPH1 SF3B4 AP4B1 CLTCL1 SUZ12 ATAD3A HACE1 ADGRG6 TBC1D23 ALG9 UFD1 FIBP FA2H H1-4 SNRPN FBN2 SMC3 HBA1 PTRH2 VWA1 SELENON EXOC6B FLI1 TGFBR2 GP1BB KIF1A OFD1 IHH SKI DYNC2H1 CRLF1 DLAT DOCK6 MAP3K20 CTU2 PLOD3 EED AP4S1 MAP3K7 FKTN HP_THORACIC_KYPHOSCOLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACIC_KYPHOSCOLIOSIS CHRNB1 AK9 LRP4 CHRNE SPRTN SCN4A LMNA DES CHRNA1 IARS2 RAPSN PCGF2 PLOD1 SOX5 CHRND AGRN COL13A1 DOK7 ZMPSTE24 PYCR2 ITCH MUSK HP_JUVENILE_RHEUMATOID_ARTHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JUVENILE_RHEUMATOID_ARTHRITIS HLA-DRB1 MIF DCLRE1C LACC1 ACP5 IL6 HP_DISTAL_ARTHROGRYPOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_ARTHROGRYPOSIS LGI4 YY1 MYBPC1 FBN2 GLI3 SRPX2 MYH8 ACADM CCDC47 ATAD1 PIEZO2 MED13L FIG4 ADGRG1 TNNI2 CHST14 PI4KA MYOD1 HP_JOINT_HYPERFLEXIBILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_HYPERFLEXIBILITY ATP7A TENT5A COL11A1 A2ML1 ENPP1 GTF2I SIX3 RIT1 FBN1 FBLN5 GTF2IRD1 HNF1B FGFR1 KRAS ABCC9 RBBP8 RAF1 PIK3CA SLC9A6 STIL ATRIP GORAB SLC6A8 GLI2 COL1A1 OBSL1 SLC2A10 LONP1 ZIC2 CBL PTHLH RYR1 XYLT2 PYCR1 ZNF469 SOS2 WASF1 EFNB1 ELN ADAMTSL2 CENPE IFT43 B4GALT7 EZH2 METTL27 TGFBR1 NFIX TBL2 SOS1 SEC23A CUL4B COL9A1 ALDH18A1 NRAS HDAC4 CDC6 C1R TRAIP PCNT LOXL3 SHH PLOD1 ABCC6 ATR TRIP11 CDT1 CTNND2 TGDS WDR19 EXT1 PAX2 COL18A1 ZDHHC9 NCF1 TRPS1 RFC2 PHF6 ORC1 FLNB COL3A1 DNAJC30 GMNN GDF5 PTEN DISP1 RRAS2 CRKL BCR TNXB IFT122 SLC26A2 FGF8 COL2A1 ANTXR1 BCL7B OCRL SEMA5A LMNA USP9X SEC24C PTPN11 KDELR2 FLNA COMT SMOC1 JMJD1C C12orf57 CLIP2 UPF3B RMRP ABHD11 PTCH1 ORC4 ADAMTS2 C1S NOTCH2 KMT2D EIF4H LAT2 MBTPS2 STX1A CCDC8 NSUN2 RRAS VPS37A CEP152 IFT52 COL9A2 BUD23 HRAS PLK4 MAPK1 HIRA TGFB2 LIMK1 CLDN3 NPR2 CDC45 TBX1 PRDM5 PIK3R1 BAZ1B PTDSS1 XYLT1 TAB2 STAT3 SUZ12 MED12 UFD1 LIG4 MRAS FGFR3 LZTR1 TGFBR2 NOTCH3 CENPJ GTF2IRD2 GP1BB SKI CANT1 KDM6A COL1A2 FKBP6 ARVCF NSD1 CLDN4 RASA2 VPS37D FGD1 MLXIPL SEC24D HOXD13 VPS13B CUL7 RREB1 P4HB RPS6KA3 COL9A3 TMEM270 ORC6 EED WDR35 UBE3A SATB2 KAT6B HP_MULTIPLE_ENCHONDROMATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_ENCHONDROMATOSIS PTPN11 COL2A1 POLR1C TCOF1 IDH2 POLR1D IDH1 PTH1R POLR1B HP_2_3_TOE_CUTANEOUS_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_2_3_TOE_CUTANEOUS_SYNDACTYLY BCOR MECP2 RPL10 NECTIN4 MCTP2 HP_LETHAL_SKELETAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LETHAL_SKELETAL_DYSPLASIA DYNC2I1 DYNC2I2 LBR WDR35 DYNC2H1 SLC26A2 PTH1R COL2A1 TRIP11 IFT80 HP_SHORT_TIBIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_TIBIA ZBTB16 LMBR1 SHH LIFR FLNB BMPR1B NEK1 SMOC1 TCTN3 DONSON SLC35A2 GLI3 IHH GDF5 SHOX RTL1 EIF4A3 GPC6 ALG12 MEG3 DLK1 INTU HYLS1 HP_AVASCULAR_NECROSIS_OF_THE_CAPITAL_FEMORAL_EPIPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AVASCULAR_NECROSIS_OF_THE_CAPITAL_FEMORAL_EPIPHYSIS ATP7A TRPS1 MATN3 SIL1 COL1A2 CREBBP COL2A1 UNC45A DVL1 WNT5A DVL3 ADAMTSL2 SRCAP TREX1 INPP5K COMP FZD2 COL1A1 EP300 FN1 UFSP2 ADAMTS2 SLC2A10 TRPV4 TONSL EXT1 HP_CONTRACTURES_OF_THE_JOINTS_OF_THE_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONTRACTURES_OF_THE_JOINTS_OF_THE_LOWER_LIMBS RNU4ATAC RPL10 ANKLE2 ERLIN2 IRF5 GNB2 SLC25A46 TBC1D2B COL12A1 TPM3 DPM1 ESCO2 GLI3 MT-TE SVIL CAV1 BCOR SIGMAR1 PPP2R5D COL6A2 RTTN SLC25A19 MYO9A POMT1 FKBP10 LMX1B MYL2 MYH3 TELO2 FKRP MYOT ACTA1 BICD2 FGFR3 LMNA TMEM43 APC2 TRPV4 TTN ERLIN1 ALS2 ERCC8 DAG1 CRPPA SPG11 ZC4H2 SLC6A9 LIFR SH3TC2 WDR26 NGLY1 HACD1 TOR1AIP1 EMD ZBTB20 PYROXD1 OPA1 HSPG2 KLHL9 GMPPB SIK3 AMER1 P4HTM ERGIC1 MYBPC1 SLC10A7 PIGN UNC80 ALAD PLEC NOD2 KAT6B TPM2 SYNE2 NEB FDFT1 TNNT1 PHF6 F8 MYLPF HINT1 C19orf12 MMP2 DSP COL6A3 CCN2 ALG2 FIG4 TGFB3 PSTPIP1 ITGA7 SPEG NT5C2 GNPTAB DDHD2 ALG14 RYR1 CAPN3 GARS1 SELENON PSAT1 HLA-DRB1 FLNA DYRK1A KIAA0319L SDHAF1 GJB2 NSD1 SYNE1 GCK ANO5 FBN1 FKTN HRAS ATP6V1E1 DDR2 KY FHL1 CNTNAP1 SETD2 KCNJ11 PDX1 STAT3 SGCG DHX16 SCARF2 ERCC6 PSMB8 SLC39A8 NSUN2 UBA1 LGI4 PIGY DPAGT1 ABHD12 SPTBN4 SLC18A3 NALCN PIEZO2 COL6A1 GJB1 CCR6 FBN2 BIN1 INS PTRH2 JUP SDHB PNPT1 GFM2 LARGE1 PTH1R SLC29A3 ABCD1 ADAT3 SGCA CPT2 GFPT1 ERCC1 BAG3 CHRNG PLOD2 SRD5A3 KCNK9 SDHA PTDSS1 BRF1 COL2A1 ABCC8 TRIM2 SLC26A2 MAP3K20 EIF5A ERCC4 MAP3K7 PIK3R2 FUS HS2ST1 SDHD HP_BASILAR_IMPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BASILAR_IMPRESSION COL1A1 COL1A2 ZBTB20 DKK1 NOTCH2 HP_APLASIA_HYPOPLASIA_OF_THE_TIBIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_TIBIA ZBTB16 ATP7A LMBR1 SHH LIFR FLNB DYNC2H1 BMPR1B NEK1 SMOC1 TCTN3 DONSON SLC35A2 GLI3 IHH PITX1 GDF5 SHOX RTL1 EIF4A3 BHLHA9 GPC6 ALG12 ZSWIM6 MEG3 DLK1 INTU HYLS1 HP_CONTRACTURES_OF_THE_LARGE_JOINTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONTRACTURES_OF_THE_LARGE_JOINTS CLIC2 PLAA MTX2 DPM2 PEX5 HP_GENERALIZED_OSTEOSCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_OSTEOSCLEROSIS LRP5 SOST CLCN7 LEMD3 PTH1R PLEKHM1 PHEX TCIRG1 DHCR24 HP_CORTICAL_THICKENING_OF_LONG_BONE_DIAPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORTICAL_THICKENING_OF_LONG_BONE_DIAPHYSES TGFB1 TBCE COL1A1 MAN2B1 FAM111A HP_ABSENT_DISTAL_PHALANGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_DISTAL_PHALANGES NOG TGFBR2 KCNN3 SLC25A24 CHUK HP_SHORT_MIDDLE_PHALANX_OF_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_MIDDLE_PHALANX_OF_FINGER HOXA13 TRPV4 FIG4 GNB2 GMNN PDE4D IHH INTU FGFR1 BMP2 GATA1 MYCN GDF5 KMT2A MIR17HG ROR2 PCNT DVL1 BMPR1B VAC14 IFT57 PUF60 MECOM EIF2AK3 PHF6 KMT2D RBBP8 FGFR2 RUNX2 KDM6A GJA1 WNT5A NEPRO HOXD13 BMP4 IGF2 SLC26A2 NIN COL10A1 PTH1R FGFR3 COL2A1 TFAP2B HP_MULTIPLE_PRENATAL_FRACTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_PRENATAL_FRACTURES TPM3 LMOD3 P3H1 LBR NEB ACTA1 KLHL41 COL1A1 MESD COL1A2 PPIB TRIP4 ASCC1 TAPT1 KLHL40 CRTAP HP_PSEUDOARTHROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSEUDOARTHROSIS MET ZMPSTE24 NF1 FGFR1 EFNB1 LMNA WNT7A MYF5 HP_METAPHYSEAL_CHONDRODYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAPHYSEAL_CHONDRODYSPLASIA CWC27 SBDS COL10A1 SRP54 AIFM1 DNAJC21 ALG3 PTH1R MMP13 FGFR3 EFL1 GPX4 RMRP HDAC6 HP_PROGRESSIVE_FLEXION_CONTRACTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_FLEXION_CONTRACTURES PRUNE1 MED12 ANTXR2 ESCO2 SYT1 GCH1 AIMP1 HP_CONGENITAL_FINGER_FLEXION_CONTRACTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_FINGER_FLEXION_CONTRACTURES KCNK9 ADAT3 PIEZO2 COL12A1 CAPN3 PRG4 FBN2 MORC2 TGFB3 HP_ABNORMAL_CERVICAL_CURVATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CERVICAL_CURVATURE TENT5A CHRNA1 KDELR2 MBTPS2 FLNB CHRNG SLC26A2 RIPPLY2 ARSL CHST14 CHRND DSE HP_BILIARY_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILIARY_ATRESIA ZIC3 CC2D2A GATA6 TMEM67 RFX6 LONP1 RPGRIP1L ERCC4 INPP5E HP_ABNORMALITY_OF_METACARPAL_EPIPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_METACARPAL_EPIPHYSES CPLX1 COL9A1 PCNT COL9A2 GPX4 CTBP1 COL9A3 IHH BGN RPS6KA3 POR LETM1 SALL1 NSD2 FGFRL1 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_METACARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_METACARPAL_BONES SMARCA2 HOXA13 TRPS1 LONP1 RNU4ATAC HDAC8 LMBR1 BMP2 SUFU PTHLH TRIP11 RTL1 STX16 ROR2 GNAS COMP GPX4 RPS6KA3 GDF5 NOG MATN3 RAB33B FBXL3 GLI3 FZD2 PRKAR1A FLNB COG4 PDE3A COL11A2 BMPR1B PLXND1 LBR CHST3 NIPBL RECQL4 XYLT1 CWC27 FIG4 HDAC4 MAP3K7 IHH DYM HHAT FAT4 PCNT RSPRY1 IFT80 RMRP FGFR1 PIGS VAC14 MEG3 EXT2 DONSON COL2A1 RUNX2 DCHS1 HOXD13 GNAS-AS1 SVBP COL9A3 SLC26A2 SRCAP SETBP1 DNMT3A FBN1 PDE4D SALL4 KCNJ2 FLNA PTCH1 IFT52 POC1A RAD21 LTBP3 ADAMTSL2 FANCI TWIST2 RAB3GAP2 PIK3CD SIL1 SHOX WNT7A PRMT7 VPS13B PHYH ACVR1 NEPRO B3GALT6 FANCD2 NHS PCYT1A PORCN BRD4 CANT1 EIF4A3 BGN BPNT2 CHSY1 SLC39A13 PTCH2 NPR2 MYSM1 PEX7 TRIO EXT1 FERMT1 RIPK4 DDR2 SMC3 SMC1A TP63 EXTL3 P3H1 CD96 VPS35L POR ANAPC1 B3GLCT SRY KNSTRN REV3L SHH DLK1 PTH1R HP_ABNORMAL_METACARPAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_METACARPAL_MORPHOLOGY SMARCA2 HOXA13 TRPS1 LONP1 RNU4ATAC HDAC8 LMBR1 BMP2 SUFU PTHLH TRIP11 RTL1 STX16 ROR2 GNAS TCTN3 COMP GPX4 RPS6KA3 GDF5 GLB1 SMOC1 NOG MATN3 RAB33B FBXL3 GLI3 GALNS FZD2 PRKAR1A FLNB FBLN1 COL11A2 COG4 PDE3A TCF12 BMPR1B PLXND1 LBR CHST3 NIPBL RECQL4 XYLT1 CWC27 FIG4 GUSB HOXD13 HDAC4 MAP3K7 IHH DYM HHAT FAT4 NFIX PCNT RSPRY1 IFT80 RMRP FGFR1 NEK1 PIGS VAC14 PDE6D MEG3 ZIC1 EXT2 PQBP1 DONSON NONO COL2A1 RUNX2 DCHS1 TWIST1 GNAS-AS1 SVBP FAM149B1 COL9A3 SLC26A2 FGF16 SRCAP SETBP1 DNMT3A FBN1 PDE4D SALL4 MMP2 KCNJ2 CPLANE1 FLNA PTCH1 IFT52 POC1A RAD21 LTBP3 ADAMTSL2 PRG4 FANCI TWIST2 RAB3GAP2 INTU PIK3CD SIL1 KIF22 SHOX FGFR3 IFIH1 WNT7A PRMT7 VPS13B PHYH ACVR1 TMEM216 NEPRO B3GALT6 FANCD2 NHS PCYT1A PORCN BRD4 CANT1 EIF4A3 BGN BPNT2 CHSY1 SLC39A13 SCARF2 MMP14 PTCH2 KIF7 NPR2 MYSM1 PEX7 OFD1 TRIO EXT1 FERMT1 RIPK4 BHLHA9 DDR2 SMC3 ADAMTS10 SMC1A TP63 EXTL3 SPARC P3H1 CD96 VPS35L POR FGF9 ANAPC1 B3GLCT SRY KNSTRN KIAA0753 LRP5 REV3L SHH DLK1 PTH1R HP_ABNORMAL_FINGER_PHALANX_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FINGER_PHALANX_MORPHOLOGY ERCC2 ATR LMBR1 DYNC2LI1 TRPS1 COL1A1 CCDC32 MKKS MGP ALX3 SH3PXD2B NUP107 SUFU TRPV4 BBS1 HPGD TRIP11 FANCB MIR17HG WDR19 RAB23 GNAS TCTN3 WDFY3 MBTPS2 MRPS28 ARSL RPS6KA3 CEP41 SMOC1 GATA1 SPEN RBM8A CTSK MYH3 FLNB NOG COG4 NIN SC5D POU1F1 EZH2 BMPR1B GJA1 INPP5E NXN LMNA KCNMA1 RPS27 DYNC2H1 ERCC4 BHLHA9 ASPN TCTN1 NGLY1 HUWE1 PIGN FIG4 BBS9 CTBP1 MKS1 HOXD13 PRKCZ OTUD6B SYP SHH NALCN TMEM67 EMG1 SALL4 DLG3 FGFR2 SCAPER RMRP GPC4 VAC14 ZNF699 CEP290 ROR2 EFTUD2 MEG3 GPC3 CDT1 MED12 LRP4 CFAP418 MTOR NOD2 PQBP1 DYNC2I1 GJA5 EXT1 RPS29 RPS10 ZDHHC9 TMEM237 MEGF8 B9D1 KIF15 COL2A1 MYOD1 GDF5 ATP6V1B2 FAM149B1 SETBP1 DNMT3A AEBP1 B3GALT6 DHODH COG5 KCNJ2 FGF9 CD96 FLNA RPGRIP1L PTEN RPS24 PTCH1 FTSJ1 ARID1A CHN1 ACSL4 ZNF711 CHUK CNKSR2 JARID2 MID2 RECQL4 BICRA B3GAT3 AHI1 COMT PIGB RAB3GAP2 PDE4D ZMIZ1 DVL1 BRCA2 FAT4 KDM5C WDR35 CHSY1 PGAP2 SRCAP ORC4 GLI1 ACAN ABCA12 USP27X WFS1 NONO B9D2 NEK1 JAG1 SVBP SMARCA2 TANC2 FGFR1 MED27 TBX5 BPTF IDUA COL10A1 BRD4 MTX2 ALX4 HOXA13 RUNX2 KAT6A DPYS HHAT HIRA SLC39A13 GLI2 PSMB8 DACT1 TBX1 PTDSS1 CC2D2A SETD5 TMEM216 COL17A1 RBPJ PIEZO2 COL6A1 HSPG2 DLL4 DSP POLR3GL SDCCAG8 SMG9 KAT6B FERMT1 DDR2 NUP133 ADAMTS10 NAA10 PIGO DISP1 FANCE SATB2 PHF6 USP9X TP63 DOCK3 MACROH2A1 EXTL3 GLI3 ADAT3 RAPSN CLCN4 NOTCH1 CANT1 CCND2 FGF10 KCNH1 TUBB3 PDE6D FGFR3 TWIST2 BRCA1 TRIM32 SATB1 CEP19 SMARCB1 G6PC3 PDPN MYH8 PAX3 IFT140 RAD51C CEP120 RPS28 GJB6 NLRP3 PIGL TRAPPC2 RIPPLY2 POR ARMC9 SLC35A3 RPL18 DEAF1 HYLS1 SLC25A24 PIK3CA IFT80 BBS12 COMP CHRNG ZNF41 RTTN FANCA NPHP1 IDS MESP2 ZNF81 ZIC2 ACTB SLX4 LHX4 ALX1 CHST3 NELFA BMP4 IFT43 BBS5 PAK3 BBS7 CEP104 SMO ERCC8 EED EVC TGFBR1 SIX3 ZNF141 ARID1B BLM SMARCAD1 KIF7 CUL4B MUSK HS2ST1 ACP5 EDA MAP3K7 CDC6 CWC27 WDPCP ZBTB20 PUS7 IGHMBP2 CDKL5 ERCC6 PIGS HESX1 TFAP2A LUZP1 TGDS RLIM IKBKG RPS26 ACTL6A MAPK8IP3 WNT5A PIGW LAGE3 UBE2T IGF2 CTSC SLC26A2 CRKL IFT172 RAD51 IFT122 FN1 NOTCH2 PSMD12 CPLANE1 PIGG TGFB3 IL11RA LAMC2 PIK3R2 TMEM107 PRKACB SLC18A3 ARHGEF6 RPL5 ZMPSTE24 GGCX EBP TNNT3 DOK7 NSD1 LETM1 ACOX1 IFIH1 TPM2 FANCI COL3A1 GJA8 CCDC22 ACVR1 TTC21B TRIP12 CREBBP NEPRO FANCD2 RPS19 HES7 COL5A1 FANCL SMARCE1 SMC1A BGN KATNIP TCTN2 MAPK1 IQSEC2 EVC2 PYCR2 ALG6 PIGY RPL11 WDR73 XYLT1 ABCC9 DPYSL5 STEEP1 SUZ12 GNPTAB IHH PACS1 CLCF1 BMP2 DDX6 UFD1 TRIO MED13 IL1RAPL1 DDX59 MATN3 RIPK4 FBN2 STAMBP KCNN3 SMC3 IFT57 FGF8 TGFBR2 GP1BB ESCO2 RBBP8 PCYT1A SOST TTC8 LZTFL1 RETREG1 TMEM231 PTPN22 DOCK6 ANAPC1 CTDP1 TWIST1 RAB3GAP1 MYBPC1 EDA2R LAMB3 PPP2R3C CHST11 ORC6 CFTR PDGFRB ATL3 WNT7A KMT2E HDAC8 GNB2 LFNG KCNJ8 ADA2 FBN1 TBC1D2B COL12A1 ARL6 MYCN AMMECR1 RTL1 EXOSC2 MMP23B SF3B4 MCTP2 CRIPT SH2B1 SLC9A7 ANTXR2 SPTBN1 RAB33B BANF1 PTHLH FZD2 FRMPD4 PRKAR1A PTCHD1 EFNB1 OCRL SUMF1 ARX GRIA4 ARL13B PRKD1 COL11A2 PTH1R ERCC1 ACTL6B MEGF10 RFWD3 EP300 ZNF423 CBY1 ARL3 MSX2 MEIS2 OTUD5 WDR4 MIA3 RERE SLC35A2 PTPN23 RPS20 UBR7 PORCN MAFB NFIX LHX3 UNC80 ADNP DVL3 FGFRL1 CPLX1 LBR HPDL RPL26 PUF60 GMNN OSGEP MYLPF SALL1 BCORL1 KDM4B HDAC4 BCR COL5A2 MMP2 TP53RK BBIP1 DMD AGO2 TXNDC15 COL6A3 IFT52 COL11A1 POC1A RAD21 DYM SEC24C TMEM70 RPL27 CWF19L1 KIAA0586 TMEM138 CAPN3 INTU SOX11 JMJD1C WASF1 RAB39B IARS1 GDI1 LAMA3 CD244 CIITA MECOM AKT3 EIF2AK3 KMT2D ALG13 CIBAR1 ITGB4 IL10 MECP2 NSUN2 RPL15 DHCR7 SETD2 UBE4B BBS2 STIL CNOT3 PIBF1 PIK3CD TCF20 TFAP2B SCN9A PTCH2 TBC1D24 SLC22A4 NPR2 KAT8 GPX4 RPL10 PHF8 TBX3 CCN6 GPKOW KMT2A SMARCA4 RPL31 B4GALT7 UPF3B SIAH1 RBM10 SLC29A3 TONSL SKI FANCF CSPP1 KDM6A TBR1 ARVCF KCNK9 FGD1 KIAA0753 RREB1 TRMT1 WASHC5 BBS4 TRAPPC4 COL6A2 RPS17 FBXW11 MADD NSD2 MYT1L RPS15A LONP1 BCOR EOGT KNSTRN RAI1 DLX5 OFD1 NTNG1 FLII GATA4 NUP88 C2CD3 RPL35 INPPL1 PIGV RPL35A IFT27 FANCC SLC12A2 AGTR2 CCDC28B FKTN TSR2 ACTG1 APC2 PDE3A DYNC2I2 TPRKB GATAD2B SHMT2 NIPBL CLCN7 IFT74 CHD7 LIFR XRCC2 PROP1 DLL3 MORC2 TMCO1 PCNT PIGF SOX9 ADAMTS3 KIAA0825 PLAA PEX6 ORC1 KIF1A ACTG2 PAH HINT1 TNNI2 MED25 PGAP3 MAD2L2 PALS1 ADAMTSL2 PRG4 L1CAM NFKBIL1 SEMA3E ZIC3 SNIP1 PCGF2 RPGRIP1 CRLF1 CNOT1 KCNAB2 ASXL3 WNK1 LEMD3 RPS7 EIF4A3 TSPAN7 CDC45 PEX1 FRAS1 ARHGAP31 POLR3A CCBE1 ADAMTS2 LIG4 CASZ1 PRDM16 NTNG2 FLI1 RNU4ATAC NHS BMPR1A ERCC5 PITX1 VPS35L SMAD3 HTT FANCG PNPLA6 HCFC1 TNRC6B KIF22 BRIP1 GABRD DLK1 FANCM PALB2 BBS10 HP_ABNORMAL_EPIPHYSIS_MORPHOLOGY_OF_THE_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EPIPHYSIS_MORPHOLOGY_OF_THE_PHALANGES_OF_THE_HAND ATR TRPS1 NPR2 GPX4 TRPV4 MIA3 IFT172 FLNA KCNH1 TRAPPC2 KIF15 PRKAR1A IHH GDF5 COG4 TRIP11 DYM MGP RAB23 COL2A1 SRCAP RMRP NEK1 ERCC6 ERCC8 FGFR3 BGN RUNX2 EVC MRPS28 BMPR1B EIF2AK3 ARSL COMP EVC2 IFT52 TONSL IFT140 EXT1 HP_ABNORMAL_HAND_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HAND_MORPHOLOGY HOXA13 NF1 HDAC8 MGP GNB2 KCNJ8 MYH3 KCNH1 ADA2 SUFU KMT2D MYCN RTL1 MIR17HG FOS HESX1 LAMB3 TPM2 GPR101 LMNB2 MCTP2 CRIPT ARSL SLC9A7 CAVIN1 GATA1 AGPAT2 PTHLH FZD2 FRMPD4 INSR BMP2 CDKN1C PTCHD1 SIN3A AIP ARX COG4 NIN POU1F1 PTH1R EZH2 BMPR1B AIFM1 KCNA1 NXN ADAMTS10 PIGP GPC4 SHANK3 RPS27 NOG MEIS2 OTUD5 PIGN FIG4 OBSL1 CTBP1 HOXD13 CDKL5 PLAG1 CASK RPS20 SYP SALL4 DLG3 NFIX DVL1 LHX3 GJA1 MADD GNAS ITGB4 VAC14 ALMS1 ZNF699 ROR2 MEG3 GPC3 MTOR LAMC2 FGFRL1 SIK1 RPS29 CPLX1 RUNX2 RPS10 NALCN RPL26 SMARCC2 KIF15 TCTN3 PUF60 GDF5 ATP6V1B2 CNTN1 TRPV4 SRCAP SETBP1 BCR COL7A1 SLC26A2 FBN1 FLNA DMD PPARG TRPS1 RPS24 PTCH1 IFT52 FTSJ1 POC1A ACSL4 ZNF711 RAD21 CNKSR2 TBL1XR1 MID2 DMXL2 BICRA ARID2 PPP1R21 RPL27 FANCI SCYL2 TRIM8 PIGB GMNN PDE4D SDHC INTU SOX11 RECQL4 ACTL6B EVC2 CNTNAP1 RAB39B PGAP2 KIAA1109 NSD1 GDI1 ARID1B KDM5C RPS6KA3 MECOM ASNS EIF2AK3 NOTCH2 GLI1 ALG13 CUL7 PNKP PACS1 MECP2 HMGA2 USP27X UBE2T JAG1 TOR1A TMEM94 RPL15 DHCR7 SETD2 PORCN COL10A1 BRD4 CANT1 PI4KA NEB PIK3CD MED12 TFAP2B ACAN ATN1 BSCL2 KIT MYOD1 FGF10 PTCH2 TBC1D24 MOGS IQSEC2 GPX4 ALOXE3 RBPJ RPL10 PHF8 PHGDH DLL4 TBX3 DSP SMG9 KMT2A RPL31 UPF3B PIGO FANCE KDM1A USP9X WDR19 PHF6 CLCN4 NOTCH1 GLE1 CHRNA1 KDM6A LMNA TBR1 CTSK LETM1 KIDINS220 FLNB NEK9 FGFR3 RPS17 MMP2 STXBP1 EXT2 NSD2 FIBP RPS28 BRCA2 ZMIZ1 RPS15A WDR73 PIGL EOGT POLR3A KNSTRN EBP RPL18 DYNC2LI1 SLC25A24 ABCC9 DOK7 BCOR RPL35 LRP4 ZNF41 PIGQ PIGV RPL35A FANCA FGFR2 GAN ZNF81 DHODH SMC3 FGD1 SDHB FANCC TNNT3 LHX4 SCN1B NELFA AGTR2 BMP4 TSR2 RAC1 APC2 IFT43 PSAT1 PAK3 PIGY CDK5 MASP1 DPF2 EED CNOT2 NIPBL CLCN7 COMP SLC6A9 CHD7 PSMD12 SMARCB1 IRX5 GNAO1 PROP1 ACP5 EDA MAP3K7 CWC27 FGFR1 IHH ZBTB20 MMP1 LTBP2 RPL5 PKDCC PCNT PIGF PIGS SUZ12 TFAP2A CHRND SMARCA2 BRIP1 IKBKG WDR35 RPS26 IFT122 PEX6 WNT5A PIGW SVBP APC COL2A1 IGF2 LAMA3 CRKL SMARCD1 PTF1A FN1 COL17A1 CHRNG TNNI2 MED25 GTPBP2 SLC25A22 PIGG PGAP3 ARID1A COG7 PALB2 SOX4 L1CAM MEN1 ALOX12B SMAD4 SEMA3E ARHGEF6 EVC ZMPSTE24 GGCX SCN2A SLX4 FANCF FAM50A NEUROD2 SMARCE1 DST ATP6V1E1 CCDC22 ACVR1 RPL11 NEPRO ASXL3 SAMD9 FANCD2 RPS19 PCYT1A SMARCA4 ABCA12 RPS7 EIF4A3 TSPAN7 MAPK1 ALG6 MAPT MMP14 PEX1 ARHGAP31 STEEP1 RNU4ATAC IL1RAPL1 WIPI2 EXT1 PIK3C2A SPART RIPK4 BHLHA9 STAMBP KCNN3 IFT57 HERC1 SMC1A CAV1 ALG12 RBBP8 OFD1 BICD2 VPS35L POR DOCK6 CHST3 PRKDC RMRP RAD51C HCFC1 COX4I1 CTU2 MYBPC1 EDA2R ASAH1 CHST11 DLK1 HP_ABNORMALITY_OF_EPIPHYSIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_EPIPHYSIS_MORPHOLOGY ATR ATP7A RNU4ATAC COL11A1 DYNC2LI1 HOXA13 TRPS1 PEX6 LEMD3 KCNH1 AGPS PEX1 CLCN5 TRIP11 B3GALT6 RTL1 DDRGK1 RBBP8 EBP WDR19 RAB23 GORAB COL2A1 COL1A1 SMAD4 MRPS28 ARSL GPX4 MATN3 RAB33B TBX4 GALNS PEX3 PRKAR1A PYCR1 ZNF469 PEX10 PEX12 NOG TSHB COG4 CENPE MMP9 MGP POU1F1 COL11A2 PTH1R AIFM1 GNPAT CHST3 LMBR1 EP300 NPHP4 RPL13 COL9A1 MIR140 CANT1 MIA3 PEX16 CYP27B1 HSPG2 PORCN MAFB LOXL3 SIK3 LHX3 RSPRY1 RINT1 RMRP NANS TRAF3IP1 MEG3 CDT1 ARSB PEX7 FGFRL1 DYNC2I1 EXT1 CPLX1 LBR KIAA0586 KIF15 GUSB GMNN COL9A3 GDF5 SLC26A2 TRPV4 FBN1 PEX19 SRCAP PEX2 TREX1 FGF9 OCRL EVC2 IFT52 POC1A LTBP3 PEX5 DYM CYP2R1 PDE4D IYD SIL1 PTPN11 SLC5A5 NEU1 DVL1 UFSP2 KIF7 TSHR ORC4 KIF22 ADAMTS2 EIF2AK3 RUNX2 SHOX NSDHL COL9A2 MMP13 NKX3-2 SMARCA2 SLC34A3 DHCR7 FGFR3 ESR1 IDUA COL10A1 SRP54 PLK4 EVC PIK3CD SLC39A13 ACAN DNAJC21 CREBBP CEP290 FLNA IQCB1 NPR2 INVS CCN6 DDR2 TMEM165 TONSL HPGD CTSK PEX14 COL1A2 UNC45A FLNB KNSTRN TPO INPP5K ERCC6 FZD2 RPS6KA3 BMPR1B IFT140 HS2ST1 NMNAT1 CEP120 ZMIZ1 LONP1 TRAPPC2 SLCO2A1 TYROBP SDCCAG8 OFD1 ATRIP IFT80 COMP INPPL1 SBDS PEX26 CA2 SLC2A10 NSD2 EXTL3 LHX4 GNPTG SCN9A WNT5A TNFSF11 ADAMTSL2 PDE3A SNX10 ERCC8 CDC6 PIGL CLCN7 XYLT1 MAP3K7 NSMCE2 GLB1 PROP1 TREM2 SALL1 TRAIP IHH PCNT SLC10A7 DUOX2 NEK1 HESX1 TGDS THRB DYNC2I2 IFT122 DPYD ORC1 PHEX EFL1 FN1 PEX13 NPHP3 CTBP1 PEX11B SMARCAL1 GGCX CKAP2L LETM1 IFIH1 HSPA9 PHYH VDR IFT172 TTC21B TG CEP152 PISD SNRPB KIF1A RETREG1 CYP19A1 BGN CDC45 PRDM5 CEP164 DYNC2H1 DVL3 PIK3C2A PIK3R1 DUOXA2 CENPJ CSPP1 EXOC6B PCYT1A VPS35L TCIRG1 POR NPHP1 PLOD3 RET ORC6 CDKN1C DLK1 WNK1 HP_ABNORMAL_RENAL_CORTICOMEDULLARY_DIFFERENTIATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_CORTICOMEDULLARY_DIFFERENTIATION OSTM1 DHX16 PKHD1 BSND NIPBL PBX1 DZIP1L INVS COQ7 HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_MORPHOLOGY DNAAF11 CCDC40 DNAAF3 ARMC2 DNAL1 ZMYND10 RSPH4A DNAI1 CFAP298 DNAAF5 CCDC103 TTC12 DNAJB13 CCDC39 RSPH9 DNAAF2 NME8 CFAP300 ODAD1 DNAAF1 ODAD3 HP_RESPIRATORY_ARREST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_ARREST VAMP1 ACADVL AFF3 LAMP2 SLC25A20 SNAP25 DCTN1 SLC25A1 CHAT AGRN CPT2 KIT SLC2A10 SLC18A3 SLC5A7 COL13A1 EXOC6B DDC COL2A1 B3GALT6 GPX4 SYT2 MYO9A TSPYL1 HP_VENTILATOR_DEPENDENCE_WITH_INABILITY_TO_WEAN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENTILATOR_DEPENDENCE_WITH_INABILITY_TO_WEAN IGHMBP2 ALAD TRMU MT-TE TK2 HP_APNEIC_EPISODES_IN_INFANCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APNEIC_EPISODES_IN_INFANCY NACC1 CC2D2A SCN5A FGF13 ACADSB FBP1 SCN4A PLA2G6 HP_DECREASED_PULMONARY_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_PULMONARY_FUNCTION TRAF7 PDGFB SMPD1 CFTR SMARCB1 BAP1 TERT GUSB HLA-DPB1 SCNN1G COL6A2 TLL1 SLC34A2 SCNN1A SCNN1B PIK3CA NF2 SMO SMARCE1 SUFU AKT1 HP_BREATHING_DYSREGULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BREATHING_DYSREGULATION TBX20 RET TMEM216 INPP5E ACTC1 GATA4 TMEM67 ASCL1 ELP1 TLL1 CEP290 RPGRIP1L CITED2 PHOX2B GATA6 NDUFS6 MYH6 AHI1 KYNU NKX2-5 HP_TEMPERATURE_INSTABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TEMPERATURE_INSTABILITY DLL1 GLI2 NODAL FOXH1 STAG2 SHH TDGF1 ALG11 CDON SMC1A HERC2 PTCH1 GALC ZIC2 SLC25A19 MYO1H GAS1 NDN FGF8 SIX3 MAGEL2 PWRN1 SPR VPS11 MKRN3 PWAR1 TGIF1 DISP1 FCGR3B NPAP1 FGFR1 LMNB1 SNRPN PSAP SNORD116-1 DDC SNORD115-1 SLC18A2 PLA2G6 HP_TYPE_II_DIABETES_MELLITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_II_DIABETES_MELLITUS SIM1 DMXL2 PROM1 GTF2I AKT2 MT-TS1 NEUROD1 PCARE CA4 HERC2 GTF2IRD1 ARL2BP LMNA MT-ND6 IGF2BP2 MT-TK PDE6A OFD1 MOG GCK IDH3B EYS MT-TS2 PRPF3 DHDDS POLA1 AIP PRCD IMPDH1 RPGR LMF1 METTL27 TBL2 NR2E3 BLM KIAA1549 MT-TH PDE6B IDH3A PLCD1 BRAF SAG RHO RGR PRPF31 IL6 CRX GLRX5 ATM CARS1 PRPH2 IMPG2 TOPORS MT-TL1 BBS2 GUCA1B CAT NDN MT-CO1 LIPC PCNT MAGEL2 ENPP1 WFS1 ALMS1 IFT88 PAX4 RP9 NCF1 REEP6 RFC2 ZNF408 HNF4A ABCC8 SPATA7 CNGB1 MT-TE ARHGEF18 SCAPER RP1 DNAJC30 MAPK8IP1 SEMA4A KCNJ11 CERKL PTPN1 MT-TW AGBL5 FBN1 SNRPN MTNR1B BCL7B SLC12A3 MT-ND4 SLC30A8 SLC7A14 ROM1 ABCA4 PEX10 MEN1 AMACR PDX1 CLCNKB HNF1A ARL3 IRS2 WRN CLIP2 MC4R GCGR ABHD11 ARL6 LRAT AR USH2A ELN IFT172 PDE6G EIF4H MT-CO2 SPINK1 LAT2 CRB1 STX1A TULP1 MAK PRPF8 HGSNAT CTNNB1 LIG4 NRL IFT140 AHI1 CNGA1 MT-ND1 FSCN2 BUD23 DHX38 CYP19A1 MT-ND5 GPD2 CEP19 CDHR1 BEST1 KLHL7 ZNF513 SNORD116-1 CPE LIMK1 CLDN3 INSR BAZ1B MT-CO3 POLR3A KIZ TTC8 MERTK IRS1 KLF11 CLRN1 SNRNP200 RLBP1 RPE65 RETN NEK2 AHR PWRN1 TCF7L2 GTF2IRD2 STUB1 PPARG MKRN3 MT-TF PRPF6 PWAR1 RP1L1 RDH12 CFAP418 TUB PRPF4 MT-TQ XRCC4 FKBP6 HNF1B CLDN4 SLC2A2 NPAP1 VPS37D MLXIPL PNPLA6 RP2 PPP1R3A HMGA1 RBP3 FAM161A TMEM270 POMGNT1 SNORD115-1 HP_LIMITATION_OF_NECK_MOTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITATION_OF_NECK_MOTION CACNA1A GABRG2 SCN1A ERLIN2 MYH7 TRAF3 STXBP1 GABRA1 SELENON SCN2A TBK1 IRF3 GDF6 COL6A2 LMNA MYLPF COL2A1 SCN9A DKK1 SCN1B UNC93B1 MEOX1 NEK9 NDE1 TTN TLR3 TICAM1 MYH3 ATP1A2 PRRT2 PCDH19 NOG HP_CONGENITAL_MUSCULAR_TORTICOLLIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_MUSCULAR_TORTICOLLIS COL6A1 COL12A1 COL6A2 GDF6 PPP2R5D GDF3 COL6A3 MEOX1 HP_REDUNDANT_NECK_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUNDANT_NECK_SKIN ATP6V1E1 MRPS22 CEP55 MEG3 HRAS OTUD5 NDUFB10 ATP6V1A RTL1 ATP6V0A2 FIG4 KIAA0586 VAC14 FGFR2 CSPP1 DLK1 SH3PXD2B WDR37 PEX1 TBX15 MRPS16 HP_NODULAR_GOITER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NODULAR_GOITER ALMS1 DICER1 SASH1 MMP2 KEAP1 FOXE1 MINPP1 RET HABP2 MMP14 HP_URETERAL_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETERAL_OBSTRUCTION TBX18 FLNA YY1 KDM6A HOXA13 SIX5 GRHPR SIX1 PRTN3 CDH11 ATP7A HLA-DPB1 SLC26A1 NODAL HLA-DPA1 MAP3K7 KMT2D PIGT DSTYK DHCR7 BRF1 SLC35A2 SETD2 PIGL LAMA3 APC2 LAMB3 HNF1B NSD1 SETBP1 CTLA4 LAMC2 EYA1 MYOD1 PTPN22 HP_ABNORMALLY_SHAPED_CARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALLY_SHAPED_CARPAL_BONES KIF22 DYM EIF2AK3 COMP GDF5 GNPTAB HP_Y_SHAPED_METACARPALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_Y_SHAPED_METACARPALS CPLANE1 KIF7 GLI3 NEK1 TCTN3 TMEM216 PDE6D HOXD13 INTU FAM149B1 OFD1 KIAA0753 HP_METACARPOPHALANGEAL_JOINT_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METACARPOPHALANGEAL_JOINT_CONTRACTURE MAP3K7 FLNA MYLPF RNF13 ASXL1 HP_PALMAR_HYPERHIDROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALMAR_HYPERHIDROSIS ITGB4 LAMC2 WNT10A KRT17 CTSB COL17A1 LAMB3 MBTPS2 KRT16 LAMA3 CFTR KRT6B RSPO1 SERPINB7 PLAA PERP TRPV3 KRT6A HP_3_4_FINGER_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_3_4_FINGER_SYNDACTYLY HOXD13 BHLHA9 GLI3 DSP JUP SALL1 HP_FINGER_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FINGER_SYNDACTYLY GJB6 LMBR1 GPC4 LEMD3 LFNG BCOR KCNJ8 RBPJ EOGT RIPPLY2 KIF7 BBS1 ARL6 GLI3 PIK3CA OFD1 HOXD13 BBS12 CHRNG LRP4 PIEZO2 WDPCP RTTN IFT27 MKS1 NPHP1 FGFR2 MESP2 SLX4 CDH1 BMP4 ITGB4 NOG TP63 RBM8A ERF FLNB WNT5A NECTIN1 FREM2 EFNB1 FGFR3 PITX1 IFT43 BBS5 PAX3 BBS7 EZH2 PLXND1 GJA1 NXN RFWD3 IFT74 ERCC4 IRF6 BHLHA9 AKT1 GRIP1 XRCC2 DLL3 BBS9 SALL1 HDAC4 FGFR1 FAT4 PORCN PTEN SALL4 SMO BMS1 CDH3 SCAPER NEK1 BTRC CEP290 SPECC1L ROR2 GPC3 ADAMTS3 CTNND2 WDR19 WNT10B IKBKG SHH MEGF8 DCHS1 FANCC APC UBE2T DLX5 IFT172 RAD51 IFT122 DHODH DSP BBIP1 MKKS SEMA5A MED25 PLEC CHUK MAD2L2 RB1 LZTFL1 RAB23 SMOC1 DVL1 BRCA2 ORC1 FANCE FANCF CHSY1 DLX6 MECOM CKAP2L NECTIN4 WNT7A FANCI CCBE1 KIFBP CTNND1 HOXA11 FANCA DLL4 IFT52 TBX5 MYH3 HES7 FANCL CCDC22 KAT6A RIPK4 NEK9 FRAS1 FGF10 PTDSS1 ARL6IP6 ARHGAP31 FANCB ABCC9 SUZ12 DVL3 SDCCAG8 FERMT1 NAA10 JUP DHCR7 RBM10 FLI1 MED12 ESCO2 CFAP418 SOST SEM1 RPL10 TTC8 NOTCH1 PHGDH NSD1 DOCK6 EPS15L1 GDF5 FANCG FGD1 PNPLA6 VPS13B TWIST1 REV3L FZD2 WASHC5 BRCA1 TCTN3 KCTD1 BBS4 BBS2 TRIM32 EED BRIP1 FANCD2 CEP19 WDR35 UBE3A SF3B4 FANCM PALB2 BBS10 RAD51C HP_ABSENT_PHALANGEAL_CREASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_PHALANGEAL_CREASE COL1A2 NOG LMX1B MASP1 TPM2 TBX15 PIEZO2 IHH MYH3 HOXD13 RBBP8 TNNI2 HP_SHORTENING_OF_ALL_MIDDLE_PHALANGES_OF_THE_FINGERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORTENING_OF_ALL_MIDDLE_PHALANGES_OF_THE_FINGERS FGFR1 HOXA13 EIF2AK3 PHF6 COL2A1 GDF5 FGFR2 HP_SHORTENING_OF_ALL_DISTAL_PHALANGES_OF_THE_FINGERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORTENING_OF_ALL_DISTAL_PHALANGES_OF_THE_FINGERS PIGY ZNF81 MID2 MECP2 IQSEC2 CLCN4 VPS35L USP27X STEEP1 FRMPD4 POR PIGL PIGW PIGO AGTR2 ARHGEF6 PTCHD1 ARX SYP IL1RAPL1 RAB39B HCFC1 DLG3 FTSJ1 PAK3 PGAP2 GDI1 TSPAN7 UPF3B ZNF41 DMD RPS6KA3 PIGV PHF6 USP9X MED12 ALG13 SLC9A7 PGAP3 ACSL4 ALG6 ZNF711 CNKSR2 HP_ACRAL_ULCERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACRAL_ULCERATION RETREG1 KIF1A CCT5 MPV17 WNK1 NTRK1 SCN9A NGF HP_ABNORMAL_FINGER_FLEXION_CREASES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FINGER_FLEXION_CREASES ATR COL1A2 NOG LMX1B MASP1 GDF5 TPM2 TBX15 PIEZO2 IHH MYH3 HOXD13 WNT7A RBBP8 TNNI2 HP_CENTRAL_Y_SHAPED_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_Y_SHAPED_METACARPAL CPLANE1 INTU KIF7 FAM149B1 OFD1 TCTN3 TMEM216 PDE6D KIAA0753 HP_INCREASED_LAXITY_OF_FINGERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_LAXITY_OF_FINGERS COL6A3 COL12A1 COL6A2 COMP COL6A1 HP_SWAN_NECK_LIKE_DEFORMITIES_OF_THE_FINGERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SWAN_NECK_LIKE_DEFORMITIES_OF_THE_FINGERS CIITA SACS IL10 PTPN22 SLC22A4 NFKBIL1 PEX5 CD244 HP_MESOAXIAL_HAND_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MESOAXIAL_HAND_POLYDACTYLY FAM149B1 FGFR2 TWIST1 HOXD13 GLI3 CHSY1 MKKS LZTFL1 TFAP2B CPLANE1 HP_DECREASED_PALMAR_CREASES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_PALMAR_CREASES AUTS2 PLOD3 CHST14 DSE PIEZO2 HP_DEEP_PALMAR_CREASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEEP_PALMAR_CREASE TBL1XR1 BRAF HRAS OTUD5 DPYD ATP6V0A2 ATP6V1B2 SPECC1L KRAS ASXL3 KCNH1 VPS33A SLC25A24 HNRNPK AIP CDK10 MAP2K1 GPR101 ASXL2 ASXL1 SHOC2 KCNN3 MTOR RBM10 MAP2K2 MTX2 HP_PHALANGEAL_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHALANGEAL_DISLOCATION AEBP1 CANT1 COL1A1 B3GALT6 COL5A2 B4GALT7 COL5A1 HP_ENLARGED_INTERPHALANGEAL_JOINTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_INTERPHALANGEAL_JOINTS MATN3 HOXD13 CCN6 KAT6A COL2A1 HP_LIMITED_WRIST_MOVEMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_WRIST_MOVEMENT FLNA LAMB2 COLQ GNPTAB PIEZO2 TRAPPC2 ZMPSTE24 MAP3K7 SALL4 OPA3 SHOX GNE LMNA MYH7 HP_LIMITED_WRIST_EXTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_WRIST_EXTENSION GNE LAMB2 COLQ MYH7 PIEZO2 HP_INTERPHALANGEAL_JOINT_EROSIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERPHALANGEAL_JOINT_EROSIONS CIITA IL10 PTPN22 SLC22A4 MMP2 NFKBIL1 CD244 HP_ABNORMALITY_OF_HAND_JOINT_MOBILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_HAND_JOINT_MOBILITY PLAA BRAF YY1 HRAS COL3A1 COL1A2 COL6A2 FBN1 NLRP1 COMP FGD1 GNB2 RNF13 COL12A1 COL5A1 PTDSS1 NFASC CCN6 OTUD6B GORAB P4HTM PKDCC CSGALNACT1 COL6A3 PIGG KCNH1 SMS IFITM5 RPS6KA3 COL6A1 LMX1B HP_ABNORMALITY_OF_CARPAL_BONE_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CARPAL_BONE_OSSIFICATION B3GALT6 MATN3 TRPV4 HOXA13 ABCC6 CANT1 LONP1 ENPP1 EXTL3 UFSP2 SLC34A2 IHH CHST3 MBTPS1 TRIP11 EBP FLNB RMRP SLC10A7 PTH1R DDR2 SLC35D1 BGN GPC3 SETD2 GPC4 COL2A1 PIGV XYLT1 TONSL HP_ABNORMAL_PHALANGEAL_JOINT_MORPHOLOGY_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PHALANGEAL_JOINT_MORPHOLOGY_OF_THE_HAND ERCC2 SMARCA2 LMBR1 TRPS1 GPC4 NLRP3 LFNG ALX3 BCOR SH3PXD2B CCN6 TRAPPC2 FBN1 TBC1D2B COL12A1 RIPPLY2 POR SLC35A3 TRPV4 MMP23B NUP88 CHRNG MBTPS2 PIEZO2 RTTN ANTXR2 IDS SMOC1 MESP2 SPEN ALX1 COL2A1 WNT5A FKTN MYH3 EFNB1 OCRL APC2 COL11A2 TPRKB PAX3 EZH2 ERCC1 GJA1 NXN TGFBR1 MEGF10 ARID1B SMARCAD1 LIFR CUL4B ASPN MUSK FLNA WDR4 MATN3 DLL3 MORC2 HOXD13 MAP3K7 CDC6 RERE PRKCZ SLC35A2 PORCN MAFB IGHMBP2 NALCN EMG1 ERCC6 ROR2 GPC3 CDT1 ADAMTS3 NOD2 ZMPSTE24 LUZP1 TGDS IKBKG ZDHHC9 SHH PEX6 ORC1 LAGE3 ACTG2 GMNN MYOD1 OSGEP MYLPF PIGL CRKL HINT1 BCR DHODH MMP2 COG5 TP53RK SLC26A2 TNNI2 MED25 COL6A3 COL11A1 TGFB3 LAMC2 ADAMTSL2 PRG4 NOG TMEM70 L1CAM NFKBIL1 SLC18A3 CAPN3 FGFR2 DVL1 UPF3B FAT4 TNNT3 KDM5C PCGF2 FGFR3 ORC4 DOK7 NSD1 LAMA3 CD244 CIITA TPM2 CRLF1 ITGB4 IL10 NUP107 KCNAB2 WFS1 GNPTAB ASXL3 SETD2 UBE4B HES7 IDUA SMC1A KAT6A MAPK1 SLC39A13 PSMB8 SKI CDC45 PEX1 WDR73 SLC22A4 XYLT1 COL17A1 SUZ12 RPL10 POLR3A MED12 CCBE1 COL6A1 FBN2 HSPG2 CLCF1 TBX3 DVL3 POLR3GL SMG9 GPKOW COL6A2 CASZ1 FERMT1 PRDM16 NUP133 TGFBR2 NAA10 SALL4 SLC29A3 ADAT3 ERCC5 RAPSN CANT1 TBR1 SMAD3 KCNK9 TUBB3 LMNA PTPN22 FGF9 CHST3 GDF5 FGD1 CTDP1 RAB3GAP1 MYBPC1 LAMB3 FZD2 TWIST2 TCTN3 ORC6 EED CFTR GABRD PDPN KAT6B HP_APLASIA_HYPOPLASIA_OF_THE_5TH_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_5TH_FINGER SMARCB1 TBC1D24 HOXA13 SOX4 ARID2 GNB2 OBSL1 PLAG1 KMT2D BMP2 GATA1 MYCN PUF60 GDF5 ROR2 PIK3C2A PKDCC DVL1 BMPR1B GJA1 GNAS KDM6A ARID1B SMARCE1 IGF2 WNT7A RBBP8 CUL7 RUNX2 HMGA2 SMC3 FGD1 WNT5A SMARCC2 KIF15 HOXD13 CDKN1C RAC1 NIN SMARCA4 COX4I1 SMARCD1 MASP1 DPF2 CNOT2 COL2A1 TFAP2B SOX11 ATP6V1B2 ARID1A MEIS2 HP_APLASIA_HYPOPLASIA_OF_THE_2ND_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_2ND_FINGER RUNX2 BMPR1B GPC4 IRX5 GDF5 HOXD13 GPC3 KIF15 INTU BMP2 COL2A1 MYCN MEIS2 HP_APLASIA_HYPOPLASIA_OF_FINGERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_FINGERS HOXA13 HDAC8 MGP GNB2 KCNJ8 KCNH1 ADA2 SUFU KMT2D MYCN RTL1 MIR17HG HESX1 LMNB2 SF3B4 MCTP2 CRIPT ARSL SLC9A7 SMOC1 GATA1 PTHLH FZD2 FRMPD4 TP63 BMP2 CDKN1C PTCHD1 SIN3A ARX COG4 NIN POU1F1 PTH1R BMPR1B AIFM1 PLXND1 KCNA1 NXN ADAMTS10 PIGP GPC4 RECQL4 RPS27 RFWD3 NOG ERCC4 MEIS2 BHLHA9 PIGN FIG4 OBSL1 CTBP1 HOXD13 CDKL5 PLAG1 DOLK CASK RPS20 SYP SALL4 DLG3 NFIX DVL1 LHX3 GJA1 FGFR2 GNAS VAC14 ALMS1 ZNF699 ROR2 MEG3 GPC3 MTOR FGFRL1 SIK1 WNT10B RPS29 FANCL CPLX1 RUNX2 RPS10 RPL26 SMARCC2 KIF15 TCTN3 PUF60 ATP6V1B2 GDF5 TRPV4 SRCAP SETBP1 BCR SLC26A2 FBN1 FLNA DMD TRPS1 RPS24 PTCH1 IFT52 FTSJ1 CHN1 POC1A ACSL4 ZNF711 RAD21 CNKSR2 TBL1XR1 MID2 DMXL2 BICRA ARID2 RPL27 FANCI TRIM8 PIGB GMNN PDE4D INTU SOX11 BRCA2 ACTL6B RAB39B PGAP2 GDI1 ARID1B KDM5C RPS6KA3 MECOM EIF2AK3 NOTCH2 NIPBL GLI1 ALG13 CUL7 ZBTB16 PNKP MECP2 HMGA2 USP27X UBE2T NSUN2 JAG1 FANCA RPL15 DHCR7 FGFR1 TBX5 PORCN COL10A1 BRD4 CANT1 PIK3CD MED12 TFAP2B ACAN FGF10 PTCH2 TBC1D24 IQSEC2 GPX4 FANCB ALOXE3 RBPJ RPL10 LMBR1 DLL4 TBX3 EVC2 KMT2A RPL31 UPF3B PIGO FANCE KDM1A WDR19 PHF6 USP9X FANCF ESCO2 CLCN4 NOTCH1 CHRNA1 KDM6A LMNA CTSK LETM1 FLNB REV3L FGFR3 BRCA1 RPS17 STXBP1 RAD51C NSD2 RPS28 ZMIZ1 RPS15A MAFB PIGL EOGT KNSTRN RPL18 DYNC2LI1 SLC25A24 DLX5 BCOR RPL35 LRP4 ZNF41 PIGQ PIGV RPL35A ZNF81 DHODH SMC3 FGD1 FANCC SLX4 LHX4 SCN1B NELFA AGTR2 BMP4 TSR2 RAC1 IFT43 PAK3 PIGY MASP1 DPF2 CNOT2 CLCN7 COMP CHD7 PSMD12 SMARCB1 RSPO2 IRX5 GNAO1 XRCC2 PROP1 ACP5 EDA MAP3K7 CWC27 CUL3 IHH ZBTB20 SON LTBP2 RPL5 PKDCC PCNT PIGF NEK1 PIGS TFAP2A EN1 CHRND SMARCA2 BRIP1 WDR35 RPS26 IFT122 SHH WNT5A PIGW SVBP APC COL2A1 IGF2 CRKL RAD51 SMARCD1 FN1 CHRNG SLC25A22 PIGG PGAP3 ARID1A MAD2L2 PALB2 RB1 SOX4 ALOX12B SMAD4 SEMA3E ARHGEF6 EVC ZMPSTE24 GGCX SCN2A MEGF8 NEUROD2 SMARCE1 WNT7A CCDC22 ACVR1 RPL11 NEPRO FANCD2 RPS19 PCYT1A SMARCA4 ABCA12 RPS7 EIF4A3 RIPK4 TSPAN7 MAPK1 ALG6 FRAS1 ARHGAP31 ABCC9 STEEP1 TRIO LIG4 IL1RAPL1 WIPI2 PIK3C2A STAMBP KCNN3 IFT57 SMC1A RBBP8 OFD1 VPS35L POR DOCK6 CHST3 FANCG RMRP HCFC1 COX4I1 EDA2R ASAH1 CHST11 DLK1 FANCM HP_SMALL_PLACENTA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_PLACENTA MUSK LMNA CDKN1C PLAG1 HMGA2 IGF2 ZMPSTE24 PHGDH IGF1 HP_LARGE_PLACENTA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_PLACENTA RTL1 MEG3 ZMPSTE24 LMNA MKS1 DLK1 TTC37 HP_HYPOPLASTIC_SPLEEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_SPLEEN FAM111A SAMD9 MCM10 STRA6 RELN HP_REDUCED_PANCREATIC_BETA_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_PANCREATIC_BETA_CELLS PDX1 GCK STAT3 EIF2AK3 INS ABCC8 KCNJ11 HP_ENAMEL_HYPOMINERALIZATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENAMEL_HYPOMINERALIZATION ENAM WDR72 GPR68 AMTN PHEX ODAPH DLX3 RELT HP_YELLOW_BROWN_DISCOLORATION_OF_THE_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_YELLOW_BROWN_DISCOLORATION_OF_THE_TEETH ROGDI ENAM SLC13A5 SATB1 DLX3 FAM20A RELT ITGB6 HP_ADVANCED_ERUPTION_OF_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADVANCED_ERUPTION_OF_TEETH LMNA FGFR2 MKS1 POLR3A KRT6B BCL11B DSP EVC2 AMER1 KRT17 SPECC1L ZMPSTE24 NEK1 EHMT1 NSD1 JUP KDM6A DHCR7 ADNP CEP120 C2CD3 INTU INSR GLI3 FAM20C CREBBP NFIX FLNA RPS6KA3 KRT16 EVC KDF1 EP300 PTH1R CILK1 KMT2C KRT6A HP_AGENESIS_OF_CENTRAL_INCISOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGENESIS_OF_CENTRAL_INCISOR SUMO1 LRP6 IRF6 MSX1 EIF4A3 NEK1 WNT10B EDA WNT10A TGFA AXIN2 EDARADD FGFR1 PAX9 HP_ABNORMALITY_OF_DENTAL_ERUPTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_DENTAL_ERUPTION TENT5A LRP6 TRPS1 LONP1 HDAC8 SATB1 GNB2 BCOR SH3PXD2B POLR3A ERCC8 RAI1 KRT6B PTHLH DEAF1 TRIP11 AMMECR1 GJB6 DYNC2LI1 ROR2 RAB23 FLII GNAS ELMO2 WNT10A ZNF41 OBSL1 C2CD3 TCIRG1 EDARADD SLC9A7 TRIO PAX9 SMCHD1 IDS BMP4 INSR TNFRSF11A ZNF81 GLI3 FAM20C MSX1 ERCC6 ATP6V0A2 FRMPD4 STX16 DMP1 PRKAR1A ZEB2 GJB2 AGTR2 PTCHD1 CTSK TNFSF11 TP63 FAM111A APC2 ARX SBDS FTSJ1 PAK3 PTH1R DPF2 SNX10 CHST3 LMNA SFRP4 NIPBL SEMA3E ARID1B KDF1 SEC23A CLCN7 EP300 DLX4 ATP6V1B2 SMARCB1 FGFR1 IRF6 MIA3 KCNJ2 ACP5 MKS1 FGFR2 EDA CYP27B1 SYP AMER1 DLG3 PIGF DVL1 NEK1 RHOA SPECC1L SLC37A4 ZMPSTE24 ADNP PAPPA2 EHMT1 ADAMTS3 STAT3 KAT6B TWIST2 INTU GJA1 CDH1 IKBKG DPYD HOXD13 DNAJC21 WNT5A SMARCC2 KCNJ5 EFL1 GDF5 SRCAP SETBP1 SMARCD1 MMP2 DSP CHD7 ANTXR1 DMD KRT17 OCRL EVC2 ACSL4 ARID1A ZNF711 RAD21 ENPP1 IL11RA CNKSR2 LEMD2 MID2 SLC13A5 CYP2R1 APC RECQL4 SOX4 KDELR2 ARID2 TGFA ARHGEF6 SUOX EVC ERCC1 FAT4 FLNA PTCH1 RAB39B NSD1 ARHGAP29 GDI1 KDM6A FAM20A RPS6KA3 KCNH1 SMARCE1 RUNX2 IFIH1 GLI1 ALG13 THRA CCBE1 MECP2 MBTPS2 USP27X VDR CREBBP CCDC8 NSUN2 CDH11 NFIX SETD2 PORCN SMARCA4 KCTD1 BRD4 SUMO1 SRP54 POLR3B EDNRA TSPAN7 TGFB1 SLC39A13 MED12 ABCA5 IQSEC2 TFAP2B ADAMTSL1 NECTIN1 TBC1D24 MYSM1 TCF4 FGF3 STEEP1 AXIN2 BCL11B LIG4 IL1RAPL1 PDE4D PIK3R1 SMC3 NAA10 IGF1 JUP UPF3B DHCR7 CEP120 SP7 SMC1A USP9X FGFR3 TONSL CLCN4 FGF10 WNT10B FLNB ANAPC1 FGD1 MAP3K7 DLG1 SEC24D NPHS1 HCFC1 CUL7 SH3BP2 EDA2R P4HB KRT16 ERCC4 GHR SLC29A3 PDGFRB SNX14 SOX11 RIC1 CILK1 KMT2C KRT6A UBR1 HP_ENAMEL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENAMEL_HYPOPLASIA ATR CYP2R1 PLEC LRP6 AMELX HLA-DQB1 LAMB3 LONP1 SATB1 TGFA ERCC8 CLDN1 COL17A1 FGFR1 DDX59 ERCC1 PGAP1 MPLKIP LAMA3 SCUBE3 IRF6 GNAS ITGA6 DNAJC21 ERCC4 NECTIN4 WNT10A EDARADD KRT5 PAX9 TTC7A LMX1B FAM20C GALNT3 MSX1 GJA1 VDR ERCC6 STX16 SLC35A2 OCRL PORCN FGFR3 PEX1 SUMO1 TARS1 RUNX2 RNF113A OFD1 DLX3 FGF10 LAMC2 KRT14 ITGB4 COG6 ROGDI NUP133 AXIN2 CYP27B1 ALDH3A2 CREBBP MMP1 GTF2E2 PIK3C2A PCNT ERCC3 RHOA FGFR2 ERCC2 ODAPH SMARCA2 GRHL2 IFT122 HLA-DQA1 TRIM37 COL7A1 WNT10B ITGB6 AIRE FLNB ACP4 EP300 KCNJ2 AMBN EDA NF1 GTF2H5 HP_PROLONGED_BLEEDING_AFTER_DENTAL_EXTRACTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_BLEEDING_AFTER_DENTAL_EXTRACTION ITGB3 GP1BA GP1BB F8 F2 F5 LMAN1 F13A1 VWF GP9 MCFD2 SERPINE1 F10 F11 F13B HP_WIDELY_SPACED_INCISORS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDELY_SPACED_INCISORS ALX3 CHSY1 ANKRD11 ATRX STAG1 GATAD2B RNF2 DNMT3A TUBGCP2 HP_ATROPHY_OF_ALVEOLAR_RIDGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATROPHY_OF_ALVEOLAR_RIDGES C1S LYST C1R CTSC ELANE HP_WIDELY_SPACED_PRIMARY_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDELY_SPACED_PRIMARY_TEETH RNF113A ERCC8 ERCC6 ERCC1 ERCC4 HP_SOLITARY_MEDIAN_MAXILLARY_CENTRAL_INCISOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOLITARY_MEDIAN_MAXILLARY_CENTRAL_INCISOR DLL1 SHH FOXH1 SIX3 TDGF1 STAG2 CDON SMC1A PTCH1 FGFR1 ZIC2 EVC2 GLI2 STIL GAS1 BCOR FGF8 NODAL CNOT1 ANKRD11 DISP1 TGIF1 EVC SUFU HP_PREMATURE_LOSS_OF_PRIMARY_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_LOSS_OF_PRIMARY_TEETH TCIRG1 FIG4 WNT10A EDAR COL3A1 C1R ALPL TNFSF11 CSTB TRAF6 CTSC PRKD1 FERMT1 SNX10 VAC14 EDARADD VDR C1S KDF1 CLCN7 GJA1 HP_SUPERNUMERARY_MAXILLARY_INCISOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPERNUMERARY_MAXILLARY_INCISOR TP63 IRF6 NHS NECTIN1 MSX1 HP_HYPOPLASIA_OF_THE_PRIMARY_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_PRIMARY_TEETH ERCC8 ERCC6 UBR1 ERCC1 ERCC4 HP_PERSISTENCE_OF_PRIMARY_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERSISTENCE_OF_PRIMARY_TEETH SRCAP BCOR RAB23 PTH1R EHMT1 KCNJ2 TNFSF11 RHOA ZMPSTE24 KCNJ5 SOX4 STAT3 CTSK TFAP2B LMNA FAM111A FLNA HP_PEG_SHAPED_MAXILLARY_LATERAL_INCISORS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PEG_SHAPED_MAXILLARY_LATERAL_INCISORS CDH1 MSX1 SUMO1 LRP6 IRF6 NEK1 ARHGAP29 WNT10B EDA WNT10A TGFA AXIN2 EDARADD DLX4 FGFR1 PAX9 BMP4 TP63 DLG1 NECTIN1 HP_ABNORMALITY_OF_PRIMARY_MOLAR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PRIMARY_MOLAR_MORPHOLOGY SUMO1 LRP6 IRF6 MSX1 WNT10B EDA WNT10A TGFA ADAMTS2 AXIN2 EDARADD SMARCAL1 FGFR1 PAX9 HP_AGENESIS_OF_PERMANENT_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGENESIS_OF_PERMANENT_TEETH WNT10A MSX1 RAB23 RIPK4 WDR35 CREBBP UBR1 GNB2 MESD LRP6 KCTD1 DVL3 SATB2 EP300 C1S C1R OFD1 RECQL4 HP_FAILURE_OF_ERUPTION_OF_PERMANENT_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FAILURE_OF_ERUPTION_OF_PERMANENT_TEETH FLNB TCF4 PTH1R SMCHD1 MAP3K7 HP_PREMATURE_LOSS_OF_PERMANENT_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_LOSS_OF_PERMANENT_TEETH TP63 ALPL RSPO1 CAT ELANE HP_IRREGULAR_FEMORAL_EPIPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRREGULAR_FEMORAL_EPIPHYSIS RNU4ATAC ADAMTSL2 CDC6 COL9A1 RPL13 COL2A1 UFSP2 PEX5 COL11A1 HP_CRUMPLED_LONG_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRUMPLED_LONG_BONES COL1A1 P4HB CRTAP COL1A2 LRP5 SEC24D HP_LIMITED_ELBOW_FLEXION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_ELBOW_FLEXION KCNK9 PTH1R MYOT CHST3 STXBP1 GPC6 ASXL1 LMX1B FZD2 SLC26A2 HP_KNEE_FLEXION_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KNEE_FLEXION_CONTRACTURE LGI4 PIGY DPAGT1 ANKLE2 ERLIN2 HACD1 SLC18A3 NT5C2 GNPTAB LIFR ALG14 GNB2 SLC25A46 ACTA1 NALCN PIEZO2 COL12A1 TPM3 PSAT1 GLI3 ZBTB20 DPM1 RNU4ATAC ESCO2 FLNA GMPPB KAT6B SIK3 ERGIC1 FBN2 SVIL SDHAF1 DDR2 GJB2 MYH3 UNC80 SDHB SELENON PTH1R COL6A2 RTTN MYO9A FBN1 FKBP10 LMX1B MYL2 CPT2 RPL10 GFPT1 TPM2 C19orf12 ATP6V1E1 KY TELO2 BAG3 FDFT1 PLOD2 SRD5A3 SDHA ERCC6 PTDSS1 BICD2 CNTNAP1 MYLPF TRIM2 TRPV4 ERLIN1 MAP3K20 COL6A3 DHX16 SCARF2 PIK3R2 ALG2 SLC39A8 COL6A1 HS2ST1 UBA1 SDHD PSTPIP1 ITGA7 HP_SHORT_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_LOWER_LIMBS MMP13 EXT1 ARL6IP6 COL2A1 NOG ALPL FN1 SLC26A2 PPIB EXT2 HP_OVERTUBULATED_LONG_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERTUBULATED_LONG_BONES KCNH1 KCNN3 ZMPSTE24 LMNA ATP6V1B2 HP_INCREASED_DENSITY_OF_LONG_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_DENSITY_OF_LONG_BONES SOST ANO5 MTAP GNAS TGFB1 CA2 TNFSF11 FLNA STX16 SETBP1 HP_LIMITED_PRONATION_SUPINATION_OF_FOREARM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_PRONATION_SUPINATION_OF_FOREARM MECOM COLEC10 IFITM5 HOXA11 SMAD6 MASP1 LMX1B COLEC11 HP_BROAD_FEMORAL_NECK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_FEMORAL_NECK MATN3 RAB33B DYM CANT1 SLC39A13 PTH1R ARCN1 ACVR1 COMP UFSP2 SLC26A2 CCN6 HP_PROXIMAL_FEMORAL_METAPHYSEAL_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_FEMORAL_METAPHYSEAL_ABNORMALITY MIR140 COL10A1 TRPV4 CSPP1 SRP54 CFAP410 KIAA0586 DNAJC21 UFSP2 SBDS HP_RADIOULNAR_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RADIOULNAR_DISLOCATION AEBP1 EXOC6B CANT1 B3GALT6 POR HP_PATELLAR_APLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATELLAR_APLASIA RECQL4 TBX4 LMX1B CDT1 CHRNG LMBR1 GMNN ORC1 CDC6 ANAPC1 KAT6B ORC4 BHLHA9 STXBP1 ORC6 RBM8A WNT7A ESCO2 DONSON CDC45 SHOX HP_INCREASED_LAXITY_OF_ANKLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_LAXITY_OF_ANKLES GLI3 COL6A2 COMP PYCR2 COL6A3 COL6A1 MFN2 HP_PROXIMAL_FEMORAL_EPIPHYSIOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_FEMORAL_EPIPHYSIOLYSIS SBDS PCNT RSPRY1 SRP54 EFL1 DNAJC21 RET HP_ANKLE_FLEXION_CONTRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANKLE_FLEXION_CONTRACTURE LGI4 SPTBN4 ERLIN2 HACD1 NT5C2 TOR1AIP1 ACTA1 RYR1 COL6A1 COL12A1 CAPN3 TPM3 PSAT1 ESCO2 FLNA DYRK1A KLHL9 COL6A2 ERGIC1 SVIL NSD1 PNPT1 SELENON ALAD ANO5 RTTN COL6A3 FKBP10 MYL2 RPL10 TPM2 C19orf12 DPM1 NEB DDR2 SETD2 APC2 DAG1 MAP3K20 MMP2 SPG11 FIG4 UBA1 SH3TC2 ITGA7 HP_ABNORMALITY_OF_THE_ALVEOLAR_RIDGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ALVEOLAR_RIDGES TBC1D24 KIF7 IRF6 RERE CD96 GJA1 FIG4 DIS3L2 TMEM216 TBX15 GNPTAB ZC4H2 ARX LYST C1R FAM149B1 DHCR7 BRF1 OFD1 KIAA0753 CTSC CPLANE1 SETBP1 SNRPN SH3BP2 TCTN3 NTRK1 VAC14 PDE6D ELANE ASXL1 GPC3 C1S RBM10 GPC4 EVC SH3PXD2B EVC2 ATP6V1B2 DHCR24 HP_ABNORMAL_DENTAL_PULP_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DENTAL_PULP_MORPHOLOGY LRP6 COL1A1 NF1 FGF3 DLX3 TGFA RAI1 AXIN2 DEAF1 FGFR1 PARN DSPP TERT RTEL1 FLII IRF6 DKC1 NOP10 NEK1 BRF1 WRAP53 WNT10A TERC FAM20A USB1 EDARADD EDA PAX9 WDR19 NHP2 GALNT3 MSX1 PEX6 GJA1 TINF2 WNT10B TP63 CTC1 IFT52 LAMB3 NPM1 COL5A1 IFT43 SUMO1 COL5A2 IFT122 SMOC2 OCRL WDR35 IQSEC2 PEX1 HP_PREMATURE_LOSS_OF_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_LOSS_OF_TEETH C1R SRP54 CDH11 FIG4 MIA3 GFI1 WNT10A SH3PXD2B POLR3A SLC35C1 CAT FERMT1 KRT14 NTRK1 VAC14 ELANE EDARADD PLEKHM1 PIGT VDR C1S RSPO1 CTSC EDAR ZMPSTE24 TP63 RUNX2 COL3A1 TCIRG1 GJA1 DKC1 ALPL TINF2 TNFSF11 TERC CSTB TRAF6 TNFRSF11A PRKD1 RBM28 TNFRSF11B AEBP1 LMNA SNX10 NOTCH2 KDF1 SEC23A CLCN7 CYP27A1 TERT HP_ABNORMALITY_OF_PRIMARY_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PRIMARY_TEETH MSX1 LRP6 FIG4 KCNJ2 WNT10A TGFA C1R ERCC8 ADAMTS2 RAI1 AXIN2 DEAF1 PURA FGFR1 TMCO1 ERCC1 FLNA RAB23 SNRPN FERMT1 FLII IRF6 EHMT1 UBR1 TNFSF11 VAC14 RHOA EDARADD VDR ZMPSTE24 C1S SOX4 STAT3 FGFR3 LMNA FGFR2 PAX9 EDAR HNRNPK BCOR TCIRG1 FGF10 ERCC6 WNT10B KCNJ5 COL3A1 ALPL CTSK SMARCAL1 CSTB FAM111A TRAF6 CTSC PRKD1 SRCAP SUMO1 PTH1R B4GALT7 EDNRA SNX10 RUNX2 ERCC4 EDA RNF113A KDF1 CLCN7 GJA1 IQSEC2 TFAP2B LEMD2 HP_ABNORMALITY_OF_DENTAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_DENTAL_MORPHOLOGY MYT1L KMT2E LRP6 TRPS1 CCDC32 TFAP2A GTF2I B3GALT6 NRAS SATB1 PIGA CDH11 SATB2 BCOR CCDC47 GTF2IRD1 RAI1 FOXC1 DEAF1 KAT6B VPS51 DYNC2LI1 SLC25A24 ADGRV1 CDH1 TERT IKBKG NTNG1 FLII IRF6 DNAJC21 EDARADD CA2 WNT10A WDFY3 TERC LONP1 PAX9 EDAR ANTXR2 BMP4 IDS USH2A P4HB DHODH NHP2 TP63 FAM20C ANKRD11 GALNT3 MSX1 SMC3 TCOF1 ATP6V0A2 CHST3 SLC12A2 KANSL1 ZEB2 PRKACA LAMB3 KIAA0753 NECTIN1 TRAF6 GRIA4 MGAT2 NFKBIA FGFR3 PRKD1 IFT43 MBD5 EYA1 PLXND1 EVC MYO7A ACTL6B METTL27 MAPK1 KCNMA1 TBL2 ARID1B PIGL SEC23A GJA1 EP300 DLX4 CKAP2L ATP6V1B2 LTBP3 PITX2 HUWE1 HS2ST1 EDA BPTF GRIA3 C1R PUS7 PTPN23 DLX3 TMCO1 UBR7 PARN PORCN WDR4 PCNT PIGF DKC1 CDH3 PDZD7 NOP10 NEK1 BRF1 RHOA FGFR2 CTCF FARS2 ADAMTS3 PQBP1 SMARCA2 WDR19 RLIM WDR35 IFT122 NCF1 ACTL6A PEX6 TINF2 RFC2 MAPK8IP3 HPDL COL3A1 DNAJC30 BRCA1 NPM1 BCORL1 KDM4B SRCAP CTNND1 PSMD12 HRAS FGF3 BCL7B OCRL AGO2 WHRN CACNA1C PALS1 JARID2 RECQL4 AMELX DHX37 UBE3B B3GAT3 PRKACB POLR1D SMOC1 ANAPC1 MCOLN1 TGFA MAPRE2 ZMIZ1 SMARCD2 CLIP2 SMARCAL1 PURA FGFR1 ORC1 FAT4 EVC2 WASF1 ABHD11 PCGF2 CHSY1 CDK10 SH3BP2 ARHGAP29 NECTIN4 ELN C1S HEPHL1 KMT2D TCIRG1 GLI1 EIF4H CCBE1 LAT2 VPS13B STX1A TRIP12 CREBBP SVBP TANC2 IFT52 SLC35A2 MED27 POLR1B MLXIPL IFT140 RUSC2 SUMO1 TSPEAR FBN1 BUD23 SMOC2 CNOT3 PLEKHM1 RBBP8 KDF1 LIMK1 IQSEC2 TCF20 CLDN3 KRAS PEX1 BCL11B FGF10 TBC1D24 PIK3R1 BAZ1B SIX1 WNT10B KAT8 DPYSL5 DPF2 ADAMTS2 AXIN2 DDX6 MED13 RTEL1 PIK3C2A SNRPN NTNG2 ADAMTS10 NAA10 WRAP53 DHCR7 CLCN7 USB1 GTF2IRD2 MED12 NHS ALX4 TONSL DOCK3 KDM6A POLR1C CTSK COL11A1 FKBP6 KCNK9 CTC1 CLDN4 IDUA HTT VPS37D B3GLCT CSTB DLG1 TNRC6B EDA2R REV3L TRMT1 TWIST2 RPS6KA3 TMEM270 TRAPPC4 GHR FBXW11 PKP1 MADD UBR1 HP_ABNORMAL_NUMBER_OF_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NUMBER_OF_TEETH ATR HMGA2 GTF2I SIX3 SATB2 GNB2 WNT10A CACNA1A SEMA3A PUS7 ERCC8 PTCH1 FGFR1 ARL6 DDX59 HNRNPK CDH1 TERT RBBP8 RAB23 ANOS1 DNAJC21 SYNJ1 EDARADD DLL1 TDGF1 FGF8 IRF6 C2CD3 GLI2 TP63 RPS6KA3 PAX9 CDK19 ZIC2 SLC13A5 NHP2 ANKRD11 ERCC6 PRKAR1A KREMEN1 CTSK NECTIN1 FLNB CENPE RBM28 PTH1R DCAF17 CNKSR2 PLXND1 CLTC FOXH1 LRP6 NXN TBL2 GABRB2 POLR3B EP300 MSX2 LTBP3 NTRK2 NKX2-1 GABRA2 OTUD5 AKT1 TRAK1 CREB3L1 EDAR TACR3 CCDC141 KCNJ2 CTBP1 CDON C1R MSX1 SLC1A2 HSPG2 PARN PORCN BBS1 SHH DKC1 CDH3 ALMS1 ROR2 DVL3 CFAP418 FGFRL1 LMNA EXT1 CPLX1 NCF1 HUWE1 POP1 CREBBP TINF2 NODAL TGIF1 DSP DNAJC30 POLR1C ATP6V1B2 PIK3C2A GDF5 DISP1 SRCAP PROK2 AMMECR1 RIPK4 HESX1 ATP6V1A ACTL6B BCL7B OCRL TRPS1 EVC2 UBA5 CEP85L RECQL4 DNM1 POLR1D RPS23 TGFA DVL1 AXIN2 CEP152 ERCC1 FAT4 CHSY1 SH3BP2 UBR1 ARHGAP29 LAMA3 ELN RUNX2 KMT2D GLI1 EIF4H FLNA ITGB4 FLRT3 GJA1 CYFIP2 IFT52 NHS SETD2 PARS2 POLR1B STIL SUMO1 AARS1 BUD23 SCN3A PLK4 EVC KDF1 STAG2 SLC39A13 CLDN3 EEF1A2 FGF10 COL17A1 STXBP1 TBX3 POLR3GL WWOX IKBKG CAMTA1 PUF60 KCNN3 LEMD3 KDM6A GRIN2D PPP3CA LETM1 WNT10B CTC1 KCNH1 GREM2 B3GLCT CLDN1 FEZF1 LMNB1 VPS13B NAA10 REV3L FZD2 TMEM270 EDA GHR DPP6 SPRY4 APC SUFU NSD2 TFAP2A DLX4 HS6ST1 GTF2IRD1 POLR3A PTHLH FOXC1 DYNC2LI1 SLC25A24 OFD1 TRIO ATRIP BCOR TERC TRMT10A PROKR2 BMP4 TCOF1 FGD1 NELFA KCNA2 WNT5A CCDC28B GABRG2 PITX2 TRAF6 APC2 NFKBIA FGFR3 POLR3K IFT43 GAS1 CHD7 ACSL4 NECAP1 METTL27 SOX10 BLM PIGL XYLT1 CELF2 CKAP2L DUSP6 IRX5 RNF13 PPP1R15B HCN1 MAP3K7 TRAIP FGF17 PCNT DLX3 PTEN SLC10A7 NOP10 NEK1 RHOA FGFR2 ZMPSTE24 ADAMTS3 WDR19 GRHL2 WDR35 IFT122 ARV1 RFC2 TRIM37 KCNJ5 FGF13 NPM1 CTSC CTNND1 LRP4 PIGG IL11RA LEMD2 LAMC2 AP3B2 DHX37 PRKACB SMC1A KCNB1 FGF3 CLIP2 KCNE5 ABHD11 SCUBE3 IL17RD NSD1 C1S ACOX1 GRHL3 DCC CCBE1 CNOT1 LAT2 HSPA9 STX1A GABRA5 NEPRO SMARCAL1 CACNA1B MLXIPL TSPEAR EIF4A3 KIF1C LIMK1 MTX2 BCL11B BAZ1B DHDDS MESD NDNF SCN8A ADAMTS2 PERP WDR11 MAF YWHAG RTEL1 PIK3R1 SYNGAP1 FGF12 WRAP53 DHCR7 CENPJ USB1 GTF2IRD2 DYRK1A FKBP6 CLDN4 ANAPC1 VPS37D NUS1 RMRP DLG1 DALRD3 SZT2 LAMB3 MBTPS2 PPP2R3C KCTD1 ERCC4 SMG8 TRPV3 HP_AGENESIS_OF_INCISOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGENESIS_OF_INCISOR CDH1 MSX1 LRP6 IRF6 DLX4 WNT10B TGFA AXIN2 GLI2 B3GLCT DLX3 FGFR1 DLG1 BCOR RIPK4 SUMO1 EIF4A3 NAA10 NEK1 ARHGAP29 EDA WNT10A BLM EDARADD PAX9 BMP4 TP63 NECTIN1 HP_ABNORMAL_DENTAL_ROOT_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DENTAL_ROOT_MORPHOLOGY LRP6 FGF3 CDH11 DLX3 TGFA RAI1 AXIN2 DEAF1 FGFR1 PARN TERT RTEL1 FLII IRF6 DKC1 NOP10 NEK1 BRF1 WRAP53 WNT10A TERC USB1 EDARADD TONSL EDA PAX9 WDR19 BCOR NHP2 GALNT3 MSX1 PEX6 GJA1 TINF2 WNT10B TP63 CTC1 IFT52 LAMB3 NPM1 IFT43 SUMO1 IFT122 SMOC2 OCRL WDR35 IQSEC2 PEX1 HP_BOWING_OF_THE_ARM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BOWING_OF_THE_ARM RSPO2 P3H1 NPR2 MMP13 GLI3 VPS35L TRPV4 COL11A1 FLNB SLC26A2 CHST3 B3GALT6 SHOX KIAA0753 RNU4ATAC POR KDELR2 B2M PCNT RIPK4 HOXA11 TMEM67 FLNA WNT7A RECQL4 FGF23 FGFR2 SCARF2 IFT43 GDF5 HP_ABNORMALITY_OF_LOWER_LIMB_METAPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LOWER_LIMB_METAPHYSES MIR140 SRP54 KIAA0586 RB1 COL11A2 TRIP11 FGFR3 PHEX TP53 TRPV4 COL10A1 RASA1 CFAP410 AIFM1 UFSP2 EZH2 SBDS SETBP1 CSPP1 COMP CHEK2 DNAJC21 HP_APLASIA_HYPOPLASIA_OF_THE_FIBULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_FIBULA ZBTB16 PTH1R ATR GDF5 FLNA IFT122 AFF3 SLC35D1 COL11A1 FLNB DYNC2H1 BMPR1B LMBR1 TBX15 SMOC1 RBM8A AFF4 SHOX INPPL1 AMER1 EIF4A3 BHLHA9 GPC6 MET WNT7A SOX9 SF3B4 INTU HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_LOWER_LIMBS SHOX ATR ATP7A RNU4ATAC LMBR1 DYNC2LI1 KMT2E HOXA13 TRPS1 CCDC32 SLC35D1 HDAC8 SATB1 CCDC47 KCNJ8 FGFR2 AGPS HERC2 IFNGR1 MMP13 ARL6 AMMECR1 RTL1 WDR19 RAB23 GNAS COL2A1 MMP23B WDFY3 MET ARSL UBR7 FGFR3 SOX9 SMOC1 NOG DCLRE1C MATN3 RAB33B TBX4 SPEN PTHLH DLK1 PRKAR1A RBM8A BMP2 FLNB ACVR1 WASF1 GRIA4 COG4 MGP PPM1D PTH1R NDN BMPR1B AIFM1 GJA1 ACTL6B KCNMA1 GPC4 TUBB3 RECQL4 DYNC2H1 COL11A1 BHLHA9 FBXO11 CANT1 IL7R HUWE1 FIG4 MIA3 KCNJ2 CTBP1 SATB2 TBX15 BPTF USP7 RERE PRKCZ CDKL5 SLC35A2 GLI3 DOLK PTPN23 SUCLG1 FAT4 BBS1 SALL4 RSPRY1 STXBP1 NANS PIGN VAC14 ALMS1 ZSWIM6 MEG3 GPC3 CDT1 MAPK8IP3 FGFRL1 DYNC2I1 WNT10B CPLX1 POP1 CERT1 HPDL PHF6 TCTN3 HOXD13 GMNN PITX1 GDF5 PIK3C2A SALL1 BCORL1 SLC26A2 FBN1 KDM4B RIPK4 HDAC4 SNRPN PSMD12 MECP2 CFAP410 PPIB UBE2A FLNA AGO2 IFT52 POC1A RAD21 JARID2 TBL1XR1 LMX1B PDE4D CAMK2G SLC35C1 RAB3GAP2 DONSON ZMIZ1 C12orf57 COG1 ORC1 DYRK1A FBXL4 CDC45 WDR35 CHSY1 SIL1 WDR81 ORC4 MAGEL2 TBCE KDM5C NOTCH2 HEPHL1 FN1 ZBTB16 VPS13B MMP9 ABCC9 NSUN2 NEK1 SVBP AFF4 TANC2 DHCR7 FGFR1 MED27 UBE4B PORCN BRD4 KIF5C RUNX2 KAT6A CNOT3 HTT SNORD116-1 SLC39A13 DACT1 TCF20 DDRGK1 TBC1D24 ARL6IP6 NPR2 KAT8 GPX4 IGF1R ALOXE3 RBPJ HSPG2 DLL4 CCN6 SHROOM4 KAT6B KMT2A TCF4 SMC1A PWRN1 PUF60 USP9X FKBP10 MKRN3 TP63 TONSL DOCK3 PWAR1 NOTCH1 CTSK PEX5 CHRNG LETM1 B3GLCT SRY KNSTRN FGD1 LIG4 TRPV4 TRMT1 TRAPPC4 GHR FBXW11 CTC1 PDPN LTBP3 MADD EXT2 NSD2 CEP120 SMARCA2 MYT1L SIM1 CDH11 TRAPPC2 EOGT POLR3A MYCN INPPL1 DLX5 GABBR2 OFD1 NTNG1 TBX3 IFT80 COMP EXOC6B PIGV SMC3 TNNT3 TELO2 NELFA SLC12A2 CCDC28B MBD5 DYNC2I2 SPART MASP1 TMEM67 EZH2 NIPBL CDC6 ARID1B PIGL MAP3K7 ATP6V1B2 CUL4B RAG1 HS2ST1 IHH DYM PUS7 AMER1 SLC10A7 PIGF PIGS SPECC1L CHD7 RAG2 LUZP1 INTU HDAC6 RLIM IFT122 AFF3 OCA2 SHH ACTL6A DCHS1 KCNJ5 HBA2 MSL3 APC HINT1 FMR1 ALG12 PRMT7 CHUK ORC6 COL3A1 IFT140 LRP4 PIGG PAPSS2 PALS1 ADAMTSL2 LIFR ALOX12B SMAD4 NGLY1 PIK3CD FAM50A KCNH1 TRAF3IP1 TBX22 WNT7A CCBE1 XYLT1 PHYH KCNAB2 TTC21B SON TRIP12 ROR2 PEX7 B3GALT6 LMNA DNMT3A LAS1L EIF4A3 BGN BPNT2 ASXL1 IL2RG SKI HYLS1 TRRAP MTX2 SF3B4 ARHGAP31 DPYSL5 RNF2 IFT172 ADAMTS2 DDX6 MED13 TRIP11 CENPE EXT1 CASZ1 PRDM16 KCNN3 NTNG2 GALNT2 HBA1 TAPT1 FLI1 ESCO2 VPS35L LZTFL1 ADA CHD4 NPAP1 IDUA DOCK6 CHST3 ANAPC1 GRIP1 RMRP COX4I1 TNRC6B ASAH1 GPC6 CHST11 TWIST1 GABRD ALPL SNORD115-1 HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_FEET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_FEET SHOX RNU4ATAC DYNC2LI1 KMT2E HOXA13 TRPS1 CCDC32 HDAC8 SATB1 CCDC47 KCNJ8 FGFR2 LMBR1 HERC2 ARL6 WDR19 RAB23 GNAS MMP23B WDFY3 ARSL SMOC1 NOG DCLRE1C RAB33B SPEN PTHLH DLK1 PRKAR1A BMP2 ACVR1 WASF1 FLNB GRIA4 COG4 MGP PPM1D NDN BMPR1B GJA1 ACTL6B KCNMA1 GPC4 TUBB3 DYNC2H1 BHLHA9 FBXO11 IL7R HUWE1 FIG4 COL11A1 MIA3 KCNJ2 CTBP1 SATB2 BPTF USP7 RERE PRKCZ CDKL5 GLI3 DOLK PTPN23 UBR7 FAT4 BBS1 SALL4 RSPRY1 PIGN VAC14 ALMS1 GPC3 MAPK8IP3 FGFRL1 DYNC2I1 WNT10B CPLX1 CERT1 HPDL PHF6 HOXD13 GDF5 SALL1 BCORL1 FBN1 KDM4B RIPK4 HDAC4 SNRPN PSMD12 MECP2 UBE2A FLNA AGO2 IFT52 POC1A RAD21 JARID2 PTH1R TBL1XR1 PDE4D CAMK2G SLC35C1 RAB3GAP2 ZMIZ1 SLC26A2 C12orf57 COG1 RECQL4 DYRK1A FBXL4 WDR35 CHSY1 SIL1 WDR81 MAGEL2 TBCE KDM5C NOTCH2 HEPHL1 VPS13B COL2A1 ABCC9 NSUN2 SVBP TANC2 DHCR7 FGFR3 FGFR1 MED27 UBE4B PORCN BRD4 CANT1 KIF5C KAT6A CNOT3 HTT SNORD116-1 DACT1 TCF20 TBC1D24 NPR2 KAT8 GPX4 IGF1R ALOXE3 RBPJ HSPG2 DLL4 SHROOM4 KMT2A TCF4 SMC1A PWRN1 MEG3 PUF60 USP9X MKRN3 TP63 TONSL DOCK3 PWAR1 NOTCH1 CTSK LETM1 B3GLCT SRY KNSTRN FGD1 LIG4 RTL1 TRMT1 TRAPPC4 GHR FBXW11 PDPN LTBP3 MADD NSD2 CEP120 SMARCA2 MYT1L SIM1 EOGT MYCN DLX5 GABBR2 OFD1 NTNG1 TBX3 STXBP1 IFT80 PIGV SMC3 TNNT3 TELO2 NELFA SLC12A2 CCDC28B TRPV4 MBD5 DYNC2I2 SPART MASP1 EZH2 NIPBL ARID1B PIGL MAP3K7 ATP6V1B2 CUL4B RAG1 HS2ST1 DYM PUS7 PIGF NEK1 PIGS SPECC1L CHD7 SOX9 RAG2 LUZP1 HDAC6 RLIM IFT122 OCA2 ACTL6A DCHS1 KCNJ5 HBA2 MSL3 APC HINT1 FMR1 PRMT7 COL3A1 INPPL1 IFT140 LRP4 PIGG PALS1 ADAMTSL2 ALOX12B SMAD4 NGLY1 PIK3CD FAM50A KCNH1 TBX22 WNT7A CCBE1 PHYH KCNAB2 TTC21B SON TRIP12 ROR2 PEX7 LMNA DNMT3A LAS1L BGN BPNT2 ASXL1 IL2RG SKI TRRAP SF3B4 ARHGAP31 DPYSL5 RNF2 IFT172 IHH ADAMTS2 DDX6 MED13 TRIP11 CENPE CASZ1 PRDM16 KCNN3 NTNG2 GALNT2 HBA1 FLI1 VPS35L LZTFL1 ADA NPAP1 DOCK6 GRIP1 RMRP COX4I1 TNRC6B ASAH1 CHST11 TWIST1 GABRD SNORD115-1 HP_APLASIA_HYPOPLASIA_OF_THE_ULNA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_ULNA XRCC2 FANCB LMBR1 TBX5 SEMA3E PIGT IHH TBX3 SHOX BRCA2 FANCE PDE4D SALL4 B2M BHLHA9 OBSL1 WNT7A EXOC6B GDF5 FGFR3 FGFR2 FANCI BMPR1B RPL26 ZBTB16 FANCF DHODH VPS35L FANCC FGF10 SLX4 COL2A1 DYNC2H1 CCDC8 JAG1 FANCA RBM8A APC CHST3 UBE2T FLNB FANCG PRKAR1A FANCL RAD51 CUL7 BRCA1 BRIP1 FANCD2 RFWD3 RECQL4 SCARF2 LRP4 SF3B4 FANCM ERCC4 PALB2 CHD7 MAD2L2 RAD51C HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_UPPER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_UPPER_LIMBS ATR ATP7A TRPS1 SATB1 MGP LMBR1 SUFU HERC2 KMT2D TRIP11 FANCB STX16 MIR17HG GNAS TPM2 OBSL1 SMAD4 MRPS28 ARSL RPS6KA3 SMOC1 MATN3 GATA1 RBM8A SIN3A FLNB NOG COG4 NIN MMP9 POU1F1 BMPR1B PLXND1 KCNA1 NXN ADAMTS10 TUBB3 RPS27 DYNC2H1 ERCC4 BHLHA9 PIGN FIG4 COL11A1 KCNJ2 CTBP1 HOXD13 USP7 CDKL5 PLAG1 GLI3 DOLK SYP SUCLG1 NDN FAT4 SALL4 DLG3 RSPRY1 GJA1 FGFR2 RMRP NANS GPC4 BTRC VAC14 ZNF699 RFWD3 ROR2 MEG3 GPC3 MAPK8IP3 MTOR SIK1 WNT10B RPS29 RPS10 KIF15 TCTN3 PUM1 GDF5 ATP6V1B2 COL9A3 DPH1 SETBP1 DNMT3A FBN1 SNRPN DHODH FGF9 FLNA RPS24 PTCH1 FTSJ1 CHN1 ACSL4 ZNF711 ADNP CHUK CNKSR2 TBL1XR1 MID2 RECQL4 DMXL2 BICRA ARID2 PIGB RAB3GAP2 DONSON PDE4D MAPRE2 DVL1 BRCA2 YY1AP1 COG1 KDM5C WDR35 CHSY1 CDK10 PGAP2 SIL1 WDR81 GSC ARID1B MAGEL2 TBCE GLI1 HMGA2 USP27X JAG1 SMARCA2 AFF4 NHS FGFR3 TBX5 BPTF COL10A1 BRD4 HOXA13 RUNX2 HTT RAI1 HHAT SNORD116-1 SLC39A13 MED12 PTDSS1 IGF1R RBPJ DLL4 FERMT1 TCF4 DDR2 SMC1A PWRN1 PIGO FANCE PHF6 MECP2 USP9X FKBP10 MKRN3 TP63 MIR140 PWAR1 MACROH2A1 EXTL3 RPL26 P3H1 CLCN4 NOTCH1 CANT1 LMNA KIFBP FGF10 KCNH1 EPS15L1 KLHL15 RTL1 BRCA1 TRPV4 RAD51C RPS28 SIM1 RPL10 ZMIZ1 BMP2 PIGL SLCO2A1 POLR3A RPL18 DYNC2LI1 SLC25A24 ESCO2 GABBR2 BCOR COMP ZNF41 PIGQ FANCA KDM1A ZNF81 SMC3 FGD1 TELO2 SLX4 LHX4 NELFA IFT80 BMP4 PRKAR1A IFT43 PAK3 MBD5 MASP1 EVC PSMD12 SHOX CUL4B LMNB2 ACP5 EDA MAP3K7 CWC27 FGFR1 CUL3 ZBTB20 SON LTBP2 NEK1 PIGS HESX1 SH3PXD2B TFAP2A EN1 WDR19 BRIP1 KDM4B IKBKG RPS26 OCA2 DCHS1 WNT5A PIGW KCNJ5 UBE2T IGF2 SLC26A2 DLX5 CRKL RAD51 FMR1 IFT122 FN1 ALG12 CHRNG COL3A1 INPPL1 SLC25A22 PIGG ARID1A PALB2 ALOX12B NGLY1 ARHGEF6 RPL5 ZMPSTE24 GGCX SCN2A MMP13 SCUBE3 MEGF8 PIGT KDM6A LETM1 NTNG1 NEUROD2 SMARCE1 WAC FANCI CCBE1 PHYH CCDC22 ACVR1 CCDC8 NEPRO FANCD2 SNRPB RPS19 PCYT1A SMARCA4 FANCL ABCA12 LAS1L BGN BPNT2 RIPK4 NALCN MAPK1 EVC2 ALG6 HYLS1 PIGY RPL11 XYLT1 ABCC9 STEEP1 GNPTAB PEX7 IHH ACAN TRIO RNU4ATAC IL1RAPL1 WIPI2 EXT1 TNNT3 STAMBP KCNN3 GALNT2 IFT57 RBBP8 POR DOCK6 ANAPC1 EDA2R GPC6 PPP2R3C CHST11 SHH SF3B4 PTH1R WNT7A HDAC8 GNB2 KCNJ8 ADA2 AGPS MYCN MCTP2 CRIPT GPX4 SLC9A7 ANTXR2 RAB33B PTHLH FZD2 FRMPD4 DLK1 CDKN1C PTCHD1 KIAA0753 ARX COL11A2 PPM1D AIFM1 GNPAT CHST3 PIGP KRAS LRP4 MEIS2 FBXO11 SATB2 CASK RPS20 NFIX B2M LHX3 ALMS1 UNC80 MYH3 EXT2 FGFRL1 CPLX1 HUWE1 DPM1 SMARCC2 GNAS-AS1 PUF60 SRCAP HDAC4 BCR DMD IFT52 POC1A RAD21 LTBP3 CCNQ DYM RPL27 CAMK2G TRIM8 GMNN INTU SOX11 ORC1 ACTL6B RAB39B DYNC1H1 GDI1 MECOM EIF2AK3 NOTCH2 NIPBL ALG13 CUL7 ZBTB16 PNKP COL2A1 VPS13B NSUN2 RPL15 DHCR7 PORCN KIF5C TGFB1 PIK3CD SCARF2 TFAP2B PTCH2 TBC1D24 PIK3R1 IQSEC2 NPR2 MYSM1 ALOXE3 ALDH18A1 TBX3 SHROOM4 KMT2A RPL31 UPF3B RBM10 TONSL SEM1 FANCF CHRNA1 HPGD CTSK PEX5 B3GLCT SRY KNSTRN INPP5K REV3L RPS17 STXBP1 NSD2 RPS15A LONP1 CNOT3 CDH11 MAFB EOGT COL9A2 RPL35 PIGV RPL35A EXOC6B DYNC2I1 FBXL3 FANCC SCN1B AGTR2 TSR2 RAC1 PDE3A DYNC2I2 DPF2 LBR CNOT2 CLCN7 CHD7 SMARCB1 RSPO2 IRX5 GNAO1 XRCC2 PROP1 PKDCC PCNT PIGF CTNND2 KAT6B CHRND HDAC6 SVBP MSL3 APC SMARCD1 SEMA5A PGAP3 MAD2L2 ADAMTSL2 RB1 SOX4 TWIST2 SEMA3E WRN ZIC3 SNIP1 PCGF2 DLX6 FAM50A PRMT7 B3GALT6 RPS7 EIF4A3 TSPAN7 FRAS1 ARHGAP31 RNF2 DVL3 LIG4 CENPE PIK3C2A SPECC1L TNNI2 OFD1 PITX1 CD96 VPS35L CRLF1 NPAP1 FANCG SLC6A17 HCFC1 COX4I1 ASAH1 KIF22 IFT81 SNORD115-1 FANCM HP_APLASIA_HYPOPLASIA_OF_THE_PATELLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_PATELLA RECQL4 TBX4 LMX1B CDT1 CHRNG LMBR1 GMNN ORC1 CDC6 RBM8A PITX1 ANAPC1 GDF5 KAT6B CDC45 ORC4 BHLHA9 STXBP1 PRMT7 ORC6 ZSWIM6 ARID1B UBR7 WNT7A ESCO2 FKBP10 DONSON SHOX HP_ABNORMALITY_OF_LOWER_LIMB_EPIPHYSIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LOWER_LIMB_EPIPHYSIS_MORPHOLOGY ATP7A RNU4ATAC ADAMTSL2 TRPS1 IYD SIL1 SRP54 CCN6 COL2A1 SLC5A5 DVL1 UFSP2 SMARCAL1 RTL1 TSHR DYM COMP COL1A1 SBDS RSPRY1 KIF22 ADAMTS2 SLC2A10 EIF2AK3 ARSL MATN3 TBX4 COL9A2 EXTL3 LHX4 CREBBP TRAPPC2 GNPTG TG WNT5A B3GALT6 TSHB COL10A1 POU1F1 IFT140 COL11A2 AIFM1 CDC6 SLC39A13 EP300 RPL13 DNAJC21 CANT1 COL9A3 PROP1 IHH DVL3 PIK3C2A COL9A1 PCNT LHX3 DUOX2 RINT1 DUOXA2 HESX1 MEG3 CSPP1 TRPV4 TONSL ACAN HSPG2 EXT1 KIAA0586 COL1A2 PEX5 COL11A1 UNC45A CHST3 EFL1 SLC26A2 TPO SRCAP TREX1 INPP5K PLOD3 FZD2 FN1 RET DLK1 HS2ST1 HP_APLASIA_HYPOPLASIA_OF_THE_RADIUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_RADIUS CCNQ ATR SALL4 FANCI MAFB LMBR1 TBX5 DONSON FLNB SEMA3E ZIC3 SHOX BRCA2 FANCB FANCE SLX4 MMP13 FANCF HOXD13 TPM2 TBX3 SF3B4 WNT7A NIPBL GDF5 FANCA ZBTB16 DHODH FANCC RBM8A AFF4 FANCD2 PRKAR1A FGFR3 FANCL MMP9 EIF4A3 PLXND1 NALCN TGFB1 RECQL4 RFWD3 ERCC4 LRP4 CHD7 FGF10 NPR2 XRCC2 GLI3 IHH TRIO FGFR1 PDE4D TNNT3 RIPK4 TNNI2 FGFR2 DHCR7 RBM10 MYH3 ESCO2 FKBP10 MACROH2A1 RPL26 RPS19 PITX1 TRIP11 APC UBE2T FANCG RAD51C RAD51 REV3L ALG12 BRCA1 BRIP1 SHH IFT81 FANCM PALB2 CHN1 MAD2L2 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_CARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_CARPAL_BONES TRPV4 RSPRY1 NANS GNPTAB LMBR1 KIF22 RBM8A SALL4 RECQL4 ALDH18A1 EXOC6B EIF2AK3 DYM XRCC2 COMP WNT7A HP_APLASIA_HYPOPLASIA_INVOLVING_FOREARM_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_FOREARM_BONES CCNQ SHOX ATR SALL4 FANCI MAFB LMBR1 TBX5 DONSON FLNB SEMA3E ZIC3 BRCA2 FANCB FANCE SLX4 MMP13 FANCF HOXD13 TPM2 TBX3 SF3B4 OBSL1 EXOC6B GDF5 WNT7A NIPBL FANCA ZBTB16 DHODH FANCC COL2A1 CCDC8 JAG1 RBM8A AFF4 FANCD2 PRKAR1A FGFR3 FANCL MMP9 EIF4A3 PLXND1 NALCN TGFB1 RECQL4 RFWD3 SCARF2 ERCC4 LRP4 CHD7 FGF10 NPR2 XRCC2 GLI3 PIGT IHH TRIO FGFR1 EXT1 PDE4D B2M TNNT3 RIPK4 BHLHA9 TNNI2 FGFR2 DHCR7 RBM10 MYH3 ESCO2 FKBP10 MACROH2A1 BMPR1B RPL26 RPS19 PITX1 VPS35L DYNC2H1 TRIP11 APC CHST3 UBE2T FANCG RAD51C RAD51 CUL7 REV3L ALG12 BRCA1 BRIP1 SHH IFT81 FANCM PALB2 CHN1 MAD2L2 EXT2 HP_ABNORMALITY_OF_LIMB_EPIPHYSIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LIMB_EPIPHYSIS_MORPHOLOGY ATR ATP7A RNU4ATAC ADAMTSL2 TRPS1 CTBP1 IYD SIL1 SRP54 IHH CCN6 KCNH1 COL2A1 TRAPPC2 SLC5A5 DVL1 SLC26A2 COG4 UFSP2 TRIP11 SMARCAL1 RTL1 TSHR RAB23 DYM SRCAP COMP COL1A1 SBDS LETM1 RSPRY1 KIF22 ADAMTS2 SLC2A10 NSD2 MRPS28 EIF2AK3 IFIH1 ARSL MATN3 TBX4 COL9A2 NKX3-2 EXTL3 LHX4 IFT172 CREBBP GNPTG PRKAR1A TG WNT5A B3GALT6 TSHB MGP COL10A1 POU1F1 IFT140 COL11A2 AIFM1 GNPAT ERCC8 BGN RUNX2 EVC CDC6 SLC39A13 EP300 RPL13 DNAJC21 FLNA NPR2 CANT1 GPX4 TRPV4 COL9A3 PROP1 MIA3 SALL1 DVL3 PIK3C2A COL9A1 PCNT LHX3 DUOX2 RINT1 DUOXA2 RMRP NEK1 HESX1 MEG3 CSPP1 BMPR1B FGFRL1 TONSL ACAN HSPG2 EXT1 CPLX1 KIAA0586 COL1A2 FLNB PEX5 COL11A1 POR KIF15 UNC45A GDF5 CHST3 EFL1 TPO TREX1 INPP5K ERCC6 PLOD3 FZD2 FGFR3 FN1 RPS6KA3 RET DLK1 EVC2 IFT52 HS2ST1 HP_APLASIA_HYPOPLASIA_OF_THE_HUMERUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_HUMERUS ATP7A MYSM1 IFT122 LONP1 FZD2 FLNB PEX5 LMBR1 AGPS POLR3A TBX5 RBM8A IHH ZIC3 GDF5 SNRPB FANCB KIAA0753 RNU4ATAC SUCLG1 SALL4 NOG GPC6 TBX3 GNPAT ALG12 GSC RECQL4 FLNA HP_ABNORMALITY_OF_TIBIAL_EPIPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_TIBIAL_EPIPHYSES COL2A1 DLK1 RTL1 COL11A1 MEG3 HP_CHRONIC_PULMONARY_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_PULMONARY_OBSTRUCTION TBX1 SEC24C GLA CYBC1 PRTN3 HLA-DPB1 MMP1 ARVCF COMT SERPINA1 NCF4 HLA-DPA1 BLM RAC2 WIPF1 JMJD1C UFD1 NCF1 WAS MCIDAS CARMIL2 RREB1 NCF2 HMOX1 ALMS1 CTLA4 HIRA MPEG1 GP1BB DNAAF4 CYBA CYBB MYH7 NFKB1 PTPN22 HP_LARYNGEAL_STRIDOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARYNGEAL_STRIDOR UBE3B BRF1 ASAH1 TAF1 PLP1 BTD HP_INTERSTITIAL_PNEUMONITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERSTITIAL_PNEUMONITIS RAG1 FOXP3 STAT5B SFTPC STAT3 TINF2 TERC PLCG2 SFTPB HLA-DPB1 TERT ABCA3 HP_INTRAALVEOLAR_PHOSPHOLIPID_ACCUMULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRAALVEOLAR_PHOSPHOLIPID_ACCUMULATION SFTPC SLC7A7 MARS1 HLA-DRB1 SFTPB CSF2RB ABCA3 CSF2RA HP_ALVEOLAR_CELL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALVEOLAR_CELL_CARCINOMA CASP8 MAP3K8 PPP2R1B TERT SLC22A18 PIK3CA SFTPA2 PRKN CYP2A6 FASLG BRAF MUC5B IRF1 KRAS EGFR ERBB2 ERCC6 SFTPC HP_PROGRESSIVE_PULMONARY_FUNCTION_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_PULMONARY_FUNCTION_IMPAIRMENT TRAF7 PDGFB SMPD1 SMARCB1 BAP1 TERT SLC34A2 PIK3CA NF2 SMO SMARCE1 SUFU AKT1 HP_PULMONARY_LYMPHANGIECTASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_LYMPHANGIECTASIA FOXF1 ADAMTS3 SOX18 FAT4 CCBE1 HP_CHRONIC_LUNG_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_LUNG_DISEASE DLL1 GLI2 NODAL FOXH1 RIPK1 STAG2 SHH SFTPB TDGF1 CDON SMC1A PTCH1 ZIC2 GAS1 FGF8 SIX3 LRBA ZNF699 CTCF SERPINH1 FCGR2A CSPP1 CFTR PEPD ITCH TGIF1 KIAA0586 DISP1 TGFB1 AFF4 FOXE1 FGFR1 LAT MINPP1 LRRC56 HABP2 BLM HP_ABNORMAL_PULMONARY_INTERSTITIAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PULMONARY_INTERSTITIAL_MORPHOLOGY THOC2 CEACAM6 HFE FSHR HLA-DRB1 IRF5 PRTN3 RTEL1 CFAP221 NOP10 DNAH1 HLA-DPA1 ODAD2 SERPINA1 STX1A RSPH4A GBA ITGA3 RASGRP1 DNAAF2 NDUFAF6 AP3D1 DSP DPP9 MARS1 EIF2AK4 KIAA0319L NUP107 MUC5B DNAH9 GSTM3 CAV1 TERT IL1RN POLR3H MCIDAS HLA-DPB1 NHP2 CASP10 FOXP3 STAT5B TGFB1 FAS DNAAF4 CSF2RB TTC12 HPS1 COL3A1 DNAAF1 DNAJB13 SFTPA2 RNF168 CFAP300 BTNL2 BNC1 CCNO TINF2 DRC1 CCDC65 TERC FOXJ1 SPAG1 BACH2 HPS4 CCR6 ZMYND10 DNAI1 HMOX1 NEK10 ODAD1 STXBP2 SLC6A14 STAT3 RSPH3 PARN CFTR COPA PLCG2 DNAL1 SLC34A1 GAS2L2 SPEF2 ERF NKX2-1 FARSB STING1 DNAI2 CCDC39 SFTPB SFTPA1 MIF CYBC1 SLC34A2 FARSA DNAAF6 GCLC RAC2 CLCA4 EHHADH CCN2 ODAD3 SLC26A9 RSPH9 SMPD1 DNAH11 DNAAF3 UNC119 CCDC40 CCDC103 SPIDR PLEC CEACAM3 SLC11A1 BMP15 ABCA3 PTPN22 PRKCD SLC9A3 SFTPC GAS8 BMPR2 DKC1 MRPS22 AP3B1 RCBTB1 RSPH1 DNAAF5 FAM13A GATM FASLG FAM111B KCNN4 OFD1 NSMCE3 ZCCHC8 ASAH1 NME8 ATP11A CSF2RA STN1 SCARB2 CTLA4 RAG1 DNAH5 NR5A1 ODAD4 RPGR DCTN4 DNAAF11 CFAP298 SP110 LRRC56 HYDIN IL2RA EDNRA PSMC3IP STK36 HP_RECURRENT_PNEUMONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_PNEUMONIA TNFRSF13B RNU4ATAC LMNB1 PURA FCHO1 NCF1 SLC35C1 SREBF1 SMARCD2 NFKB2 CD247 TNFRSF11A PKHD1 NCF2 CYBA LEP EGFR NBN ADA ICOS USB1 FBLN5 ODAD1 FMO3 RAC1 LAT CD27 CCDC40 ODAD2 COL11A2 CD19 IL21R TNFRSF13C KPTN EFEMP2 PLOD1 DNAH11 JAK3 AASS PIK3CD NKX2-1 IGHM ALMS1 GNPTAB CYBC1 CYBB CCDC39 TBCD RAC2 DZIP1L IL2RG VPS33A CD79B DRC1 P4HTM MASP2 CARMIL2 IGBP1 LRBA DDR2 SIAH1 FCGR2A UNC119 WDR19 WDR1 WAS STAT3 KCNJ6 GAS8 ALG12 CFTR PEPD TONSL SMARCA2 EXTL3 SFTPC CD3E BTK AP3B1 TGFB1 CR2 BLNK STK36 SETBP1 IGLL1 CD3D CFAP410 MTHFD1 TK2 POLA1 ORC6 MED25 CXCR4 PGM3 PKP1 RNF168 NFKB1 HP_RECURRENT_INTRAPULMONARY_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_INTRAPULMONARY_HEMORRHAGE HLA-DPA1 CTLA4 COL3A1 WIPF1 PRTN3 HLA-DPB1 WAS PTPN22 HP_AIRWAY_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AIRWAY_OBSTRUCTION SEC24C PRTN3 CFAP221 AHDC1 COMT DNAH1 HLA-DPA1 ODAD2 RSPH4A JMJD1C DNAAF2 WAS DDRGK1 APC DNAH9 SH3BP2 MCIDAS HLA-DPB1 KIF22 SCNN1G MPEG1 DNAAF4 FGFR3 MYH6 MYH7 TTC12 IDS GLA DNAAF1 DNAJB13 MMP1 CFAP300 BTNL2 CCNO DNASE1L3 DRC1 CCDC65 FOXJ1 GATA6 SPAG1 NKX2-5 MGP TBX20 ZMYND10 DNAI1 NCF2 NEK10 ODAD1 TLL1 F12 HIRA DNAH11 RSPH3 SCNN1A COL11A1 DNAL1 CYBA CYBB GAS2L2 SPEF2 TBX1 SOX9 ENG DNAI2 CCDC39 SERPINA1 DNAAF6 RAC2 WIPF1 VPS33A UFD1 NCF1 ODAD3 CARMIL2 RSPH9 ALMS1 ZSWIM6 DNAAF3 ZMPSTE24 CCDC40 CCDC103 FGFR2 KCNJ6 GP1BB SCNN1B LMNA GNE HLA-DRB1 PTPN22 GAS8 CYBC1 GATA4 ARVCF RSPH1 NCF4 DNAAF5 CITED2 BLM OFD1 CFTR RREB1 NME8 ACTC1 HMOX1 POR CTLA4 DNAH5 ODAD4 RPGR DNAAF11 CFAP298 LRRC56 HYDIN STK36 NFKB1 HP_RECURRENT_BRONCHOPULMONARY_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_BRONCHOPULMONARY_INFECTIONS TARS1 LAMTOR2 ERCC3 RNF113A TGFB1 FCGR2A GTF2H5 ERCC2 CFTR MPLKIP VPS33A GTF2E2 HP_CARDIORESPIRATORY_ARREST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIORESPIRATORY_ARREST KIT SLC2A10 EXOC6B DDC LAMP2 COL2A1 SLC25A20 B3GALT6 GPX4 TSPYL1 HP_UNILATERAL_PRIMARY_PULMONARY_DYSGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNILATERAL_PRIMARY_PULMONARY_DYSGENESIS TBX1 DGCR8 DGCR6 ESS2 DGCR2 HP_ACUTE_HEPATIC_FAILURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_HEPATIC_FAILURE ATP7B LARS1 ITCH JAK2 CYC1 RYR1 FAH TCF4 ACAD9 SEMA4D EIF2AK3 IKZF1 SH2D1A HLA-B GPR35 HADH SCYL1 PORCN F5 RINT1 MPV17 GFM1 MST1 IL18BP CACNA1S NBAS MEFV XIAP LIPA TRMU HP_POLYCYSTIC_LIVER_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYCYSTIC_LIVER_DISEASE GANAB PKD2 BICC1 PRKCSH SEC63 DNAJB11 ALG9 LRP5 PKD1 HP_LIPID_ACCUMULATION_IN_HEPATOCYTES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIPID_ACCUMULATION_IN_HEPATOCYTES MCCC1 PLIN1 PPARG RRM2B TRAPPC11 MPV17 ZPR1 SLC25A20 COX15 PNPLA2 HNF1B LMNA LMNB2 NSMCE2 SPEN HADHA EARS2 DPM1 IARS1 BSCL2 COA8 ATP6AP1 FOS ABHD5 MRPS7 PHKA2 SLC25A13 FBP1 MMP23B CPT2 APOB CLPB LIPE POLG POLD1 CAVIN1 SPTBN1 PCSK9 MT-TN ACOX1 AGPAT2 PCK1 KCNAB2 MRPL44 CIDEC TMEM199 LRPPRC ABCG5 DNAJC19 LDLRAP1 HADH UBE4B SLC40A1 ADK HADHB APOE PGM1 ETFA TARS2 CYP19A1 SCO1 CEP19 DGUOK LIPA CBS BCS1L HNRNPA2B1 SKI TRMU MTX2 ETFDH CYP7A1 HNRNPA1 HMGCL CAV1 FARSB NGLY1 HSD17B4 PHKG2 MICOS13 ACADS POLR3A ALMS1 RERE PRKCZ FARSA MARS1 HSPG2 VPS4A TFAM VPS33A SUCLG1 CASZ1 ACADVL LDLR RINT1 PRDM16 CPT1A SLC37A4 ETFB YARS1 NFS1 LUZP1 SLC22A5 SURF1 ATP7B XRCC4 ATP6AP2 LARS1 ACAD9 MT-TS1 PMM2 ACADM MTTP UNC45A VCP AKT2 GPD1 PCK2 PTRH2 DDOST CARS2 NDUFAF1 TYMP SAR1B ABCG8 TKFC RMND1 MRPL3 GABRD PDPN LYRM4 ALDOB HP_VIRAL_HEPATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VIRAL_HEPATITIS PDGFRL BTK CASP8 TP53 RFX5 APC MET PIK3CA RFXANK CIITA CTNNB1 AXIN1 RFXAP IGF2R HP_INCREASED_HEPATOCELLULAR_LIPID_DROPLETS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_HEPATOCELLULAR_LIPID_DROPLETS LRPPRC MT-TN SAR1B MT-TS1 SURF1 HP_INCREASED_HEPATIC_GLYCOGEN_CONTENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_HEPATIC_GLYCOGEN_CONTENT PHKB PHKG2 HNF4A PGM1 PYGL SLC2A2 SDHA AKT2 SLC37A4 HP_SUBACUTE_PROGRESSIVE_VIRAL_HEPATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBACUTE_PROGRESSIVE_VIRAL_HEPATITIS PDGFRL CASP8 TP53 CTNNB1 APC AXIN1 IGF2R MET PIK3CA HP_PROLONGED_NEONATAL_JAUNDICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_NEONATAL_JAUNDICE CDAN1 IYD PROP1 RNASEH2C GYPC EPB41 SLC16A2 CPOX SLC5A5 KMT2E PRPS1 PEX1 RNU4ATAC DUOX2 ADAMTS13 TSHR NPC1 POU1F1 ATP6AP1 LHX3 SPOP DUOXA2 G6PD HESX1 RNASEH2B RNASEH2A GALM NSD1 CTCF TREX1 SLC10A1 ATP7A YARS1 PEPD UGT1A1 TRHR SMPD1 LHX4 JAG1 TG UNC45A PEX3 SPTA1 IFIH1 SETD2 CASK SAMHD1 CCDC115 TSHB APC2 NPC2 TPO SPTB GALK1 TBX19 MPV17 AMACR ARL13B PARS2 ADAR SLC51B PKLR CYP27A1 SLC44A1 HP_PORTAL_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PORTAL_FIBROSIS UNC45A ARG1 CC2D2A PHKA2 RPGRIP1L PHKG2 WDR35 PYGL CEP83 ABCB4 ABCD3 ADK HP_DIAPHRAGMATIC_PARALYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIAPHRAGMATIC_PARALYSIS IGHMBP2 GAA TPI1 MEGF10 MORC2 BAG3 HP_WIDE_INTERMAMILLARY_DISTANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDE_INTERMAMILLARY_DISTANCE GNRH1 TBL1XR1 A2ML1 SMPD4 PTPN11 RIT1 KNSTRN MAPRE2 COX7B HS6ST1 KRAS COG1 AMMECR1 RTL1 HNRNPK RAF1 KANSL1 KISS1 GATA4 TRAF7 MEGF8 GNRHR ALG14 PROKR2 SPRY4 IBA57 PACS1 SOS1 CBL RAB18 RRAS SMARCA2 CDH11 SOS2 WDR37 WASF1 FREM2 FGF8 UBE2A KISS1R WDR11 FGFR1 EXOC2 NUP188 KAT6A EED ASXL1 PIK3CD NSMF FRAS1 NF1 ABCD4 CHD7 GRIP1 PIGN IGF1R NRAS HDAC4 GNPTAB TACR3 SMS TUBB TMCO1 MRAS AMER1 RIPK4 ARCN1 MADD LZTR1 PPP1CB MEG3 DHCR7 ADNP TOGARAM1 ERMARD CSPP1 MAB21L1 KATNB1 ZC4H2 TFAP2A DUSP6 OFD1 INTU PROK2 CPT2 TP63 ARHGEF2 FGF17 KIFBP KIAA0586 CERT1 ERCC6 RASA2 CHST3 B3GLCT SRY RRAS2 ALG9 NECTIN1 TAC3 DLK1 CILK1 BRAF HP_ABSENT_STERNAL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_STERNAL_OSSIFICATION ORC6 FIG4 SOX9 ORC1 VAC14 HP_MULTIPLE_RIB_FRACTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_RIB_FRACTURES TENT5A TAPT1 KDELR2 MBTPS2 TNFRSF11A CRTAP TRIP11 HP_THORACIC_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACIC_DYSPLASIA DYNC2I1 WDR19 WDR35 IFT172 DYNC2I2 NEK1 HP_THIN_CLAVICLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIN_CLAVICLES PCNT LMNA TBCE ZMPSTE24 COL11A1 HP_RIB_SEGMENTATION_ABNORMALITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIB_SEGMENTATION_ABNORMALITIES NSD2 CPLX1 MESP2 CTBP1 DLL3 LFNG NELFA LETM1 RIPPLY2 FGFRL1 PIGG HES7 HP_APLASTIC_CLAVICLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASTIC_CLAVICLE ATP7A PTDSS1 SALL4 KIAA0586 ORC4 RUNX2 ORC6 ORC1 CDT1 CDC6 FIG4 PIGL GMNN RNU4ATAC PTH1R CDC45 HP_REDUCED_SYSTOLIC_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_SYSTOLIC_FUNCTION PLN ABCC9 TPM2 LIMS2 RYR2 TRDN TKFC DSP CSRP3 TPM3 JUP SCN5A DES MYPN CASQ2 SGCD JPH2 HP_PREMATURE_VENTRICULAR_CONTRACTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_VENTRICULAR_CONTRACTION RYR2 JUP NAA10 TRDN RYR1 SLC25A20 TMEM43 KCNJ2 DPP6 CACNA1S SCN5A KCNJ5 DSG2 DSP TNNI3K CDH2 CASQ2 HP_ENDOCARDIAL_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENDOCARDIAL_FIBROSIS ACTN2 PDGFRA LDB3 VCL SP110 MYL3 HP_BACTERIAL_ENDOCARDITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BACTERIAL_ENDOCARDITIS CRELD1 NR2F2 PRKAR1A GATA6 GATA4 GBA HP_ATRIOVENTRICULAR_CANAL_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATRIOVENTRICULAR_CANAL_DEFECT CRELD1 NKX2-5 NR2F2 LONP1 PRKACB GDF1 NODAL WDPCP GATA1 ZIC3 EVC2 FANCB BRAF DYNC2LI1 EVC TRIO CDC45 CCDC32 GATA4 FOXF1 NEK1 PKD1L1 RAF1 MMP21 KDM6A DHCR7 PUF60 GLI1 INTU NKX2-6 GLI3 VPS35L GATA6 ACVR2B PRKACA TBX5 CDH2 GJA1 CFC1 CCDC22 LZTR1 WASHC5 TBX1 PTPN11 HYLS1 KAT6B HP_DILATATION_OF_THE_VENTRICULAR_CAVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DILATATION_OF_THE_VENTRICULAR_CAVITY EFEMP2 RPL10 PKP2 NDE1 GMPPB FBLN5 RYR2 NPPA HP_PREMATURE_ATRIAL_CONTRACTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_ATRIAL_CONTRACTIONS SCN5A TTN KCNE2 GJA5 CITED2 HP_APLASIA_HYPOPLASIA_OF_THE_LUNGS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_LUNGS WNT4 NSD2 CEP120 TENT5A DYNC2LI1 MKKS KIAA0586 B3GALT6 SIX3 STRA6 TRPV4 TRIP11 FGFR1 BMPER PEX1 RTL1 SLC25A24 WDR19 STIL HOXD13 IFT80 GLI2 ALG9 NUP88 CHRNG RSPO2 PKHD1 MCTP2 ZIC2 DYNC2I1 MYRF FAM20C RARB NELFA FLNB COL2A1 FREM2 SLC26A2 LMOD3 DYNC2I2 PSAT1 ETFA WNT3 SMO DYNC2H1 AARS2 AGT MUSK FLNA GRIP1 PIGN CTBP1 MKS1 FGF20 SON PORCN SHH RET MEG3 CC2D2A KAT6B ZMPSTE24 RYR1 CHRND INTU NPHP3 LBR NEB WDR35 AGTR1 MYOD1 GATA6 DISP1 ITGA8 CEP55 SETBP1 REN ZFPM2 ALG3 FGF8 INVS GREB1L NEK8 IFT140 PIGG KLHL41 KDELR2 SPECC1L LIFR DONSON SLC18A3 EVC CSPP1 BCOR CDC45 CPLX1 DOK7 ASCC1 GLI1 NSDHL MBTPS2 MYH11 TTC21B NEK1 RLIM TMEM94 DPAGT1 FUZ DHCR7 FGFR3 MYH3 CHRM3 ACTA1 VANGL1 PIEZO2 FRAS1 COQ7 ETFDH LGI4 NDUFB10 NKX2-6 WT1 IFT172 GLE1 PHGDH ADGRG6 EVC2 GLDN HSPG2 DZIP1L ATP5F1A GPKOW ETFB RBM10 LTBP4 TAPT1 RAPSN ACE CHRNA1 PLXND1 LETM1 LMNA KLHL40 NEK9 NAA10 TCTN3 TRIP4 FANCB DLK1 IFT81 PTH1R HP_ABNORMAL_CORONARY_ARTERY_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CORONARY_ARTERY_MORPHOLOGY BRCC3 MYLK CYP7A1 PPARG GDF1 LMNA ABCC6 SMAD2 TGFBR2 GLB1 ABCA1 ENPP1 NKX2-6 HGD PRKG1 XYLT2 ERCC6 FBN1 ELN KCNJ5 ABCG8 FOXE3 MYH11 LOX PNPLA2 LDLR SMPD1 MAT2A APOB PPP1R17 NADSYN1 NT5E ERCC8 APOA2 LIPC LMX1B YY1AP1 TGFB2 PCSK9 XYLT1 SMAD3 GHR TGFB3 TKT PLXND1 MFAP5 ACTA2 ABCG5 ZNF687 LDLRAP1 EPHX2 MED13L ESR1 MLXIPL SERPIND1 TGFBR1 APOE LZTR1 CEP19 HEY2 CYP27A1 DYRK1B SMAD4 HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_MORPHOLOGY FIBP TENT5A GDF1 COL1A1 FMR1 ENPP1 NF1 GTF2I B3GALT6 SH3PXD2B FBN1 GTF2IRD1 LMNA MYCN HCN4 BCOR RAF1 MCTP2 FOXF1 COL1A2 SELENON ZNF469 TNXB MYH6 IDS ZIC3 MYRF SMAD3 CHST3 KRAS ABCC6 NDUFB11 GBA HGD TBX20 DNAJB11 GATA6 XYLT2 GATA4 NXN FLNA METTL27 GANAB MAPK1 TBL2 CBS LTBP3 MFAP5 SLC34A2 MYPN BRAF DCHS1 PLOD1 ROR2 ZMPSTE24 PLD1 COL2A1 NONO YY1 FMN2 NCF1 RFC2 CLIC2 ANK1 COL3A1 DNAJC30 CITED2 AEBP1 COL5A2 ACTC1 MMP2 TPM3 BCL7B FGFR1 CRELD1 CCNQ SEC24C TPM2 KDELR2 GNPTAB B3GAT3 COMT COL5A1 NOTCH1 RPL5 HCCS JMJD1C CLIP2 ABHD11 PKD1 DZIP1 PCGF2 SLC6A6 ELN NKX2-5 VWF IFIH1 EIF4H GJA1 LAT2 HRAS SACS VPS13B MYH7 MBTPS2 ATP6V1E1 STX1A SMAD4 DSE TMEM260 MED13L AGGF1 MLXIPL BUD23 CCDC22 TGFBR1 TLL1 RYR1 HIRA TGFB2 LIMK1 CLDN3 HNRNPH2 PTPN11 MMP14 MTX2 TBX1 PRDM5 BAZ1B TAB2 PKD2 BICC1 FBN2 UFD1 MMP21 GTF2IRD2 MED12 TGFBR2 SLC29A3 GP1BB ALG9 EXTL3 POLG SKI NR2F2 XYLT1 FKBP6 ARVCF CLDN4 VPS37D BRF1 MAP3K7 COX7B LZTR1 TTN RREB1 RPS6KA3 WASHC5 TMEM270 JPH2 HP_CYSTIC_LIVER_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYSTIC_LIVER_DISEASE TMEM107 TMEM67 NPHP3 TMEM216 IFT122 TCTN1 EXTL3 B9D1 PRKCSH TTC21B B9D2 JAK1 SEC63 TMEM231 PKD2 BICC1 PKHD1 CSPP1 ALG9 TSC1 PKD1 GANAB CC2D2A DNAJB11 TSC2 TCTN2 TCTN3 WDR19 ALG8 LRP5 MKS1 OFD1 TXNDC15 RPGRIP1 RPGRIP1L TMEM237 CEP290 HP_ABNORMALITY_OF_THE_HEPATIC_VASCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_HEPATIC_VASCULATURE CC2D2A ARHGAP31 FARSB ENG IL12A NEUROG3 KRIT1 RBPJ TCF4 EOGT MPL FLT1 DLL4 MMEL1 MPI ACTG2 ELN TNPO3 TJP2 DZIP1L CALR TET2 TMEM67 NPHP3 F5 MST1 TNFSF15 PKHD1 ALMS1 IRF5 CBL STN1 GLIS3 ADA2 ITCH SMAD4 HLA-DRB1 INPP5E ACVRL1 HFE NOTCH1 JAK2 RUNX1 SRSF2 RPGRIP1L DGUOK SLC30A10 CORIN IL12RB1 SEMA4D BTNL2 PIGM GDF2 SHPK POU2AF1 DOCK6 GPR35 CLDN1 STOX1 MLXIPL TREX1 GBE1 ABCD3 SPIB LIPA RECQL4 DCDC2 SP110 ASXL1 HP_APLASIA_HYPOPLASIA_OF_THE_NIPPLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_NIPPLES NSD2 HDAC8 PIGN CDH11 FIG4 TP63 TWIST2 CCDC47 CTBP1 DOLK TBX3 ALG9 TUBB RTL1 SLC25A24 IKBKG CPLX1 SMC3 UBR1 RSPO2 VAC14 ANTXR1 MEGF8 MEG3 USP9X PTPRF SMC1A NIPBL EDA GNE CHRNG NELFA LETM1 EDARADD KIF15 PIGL EFNB1 PORCN KCTD1 BRD4 MGAT2 CCDC22 WNT3 WASHC5 SETBP1 DLK1 PIGG WNT7A RAD21 KDM6B HP_APLASIA_HYPOPLASIA_OF_THE_CLAVICLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_CLAVICLES RSPO2 ATP7A PTDSS1 SALL4 KIAA0586 FIG4 FGFR2 FLNA TBX5 CDC6 TWIST1 ZMPSTE24 BCOR FAT4 PORCN TBX3 ORC4 EFNB1 VAC14 B4GALT7 MSX2 DYNC2LI1 CDT1 RNU4ATAC RUNX2 LMNA NSDHL BMPR1A XYLT1 FBXL3 DCHS1 HOXD13 TRIP11 ORC1 CHD4 IDUA GMNN SRCAP MTX2 ALX4 NAA10 BGN ORC6 PTEN PIGL PTH1R WNT7A CDC45 LEMD2 HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_THORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_THORAX ATR ATP7A SALL4 KIAA0586 SLC35D1 BUB1B BMP2 FBN1 SUFU BMPER INPPL1 RTL1 ROR2 KMT2A TRPV6 TBX3 MMP23B RSPO2 C2CD3 SOX9 DYNC2I1 FBXL3 SPEN CHST3 IFT80 COL2A1 EFNB1 HES7 RRAS2 DYNC2I2 PTH1R WNT3 SMO EZH2 ARID1B PIGL XYLT1 DYNC2H1 SLC26A2 COL11A1 ATP6V1B2 ACTB FIG4 TBX15 CDC6 TWIST1 RERE PRKCZ IHH DYM FAT4 PORCN PLCB3 NFIX PCNT FGFR1 VAC14 MYF5 MEG3 ZMPSTE24 CDT1 RBM10 LMNA LUZP1 INTU LBR WDR35 IFT122 TBX6 DCHS1 HOXD13 TRIP11 ORC1 PUF60 GMNN TRPV4 SRCAP DNMT3A ALG12 FLNA ORC6 PTEN PTPN11 PTCH1 IFT43 EVC2 LEMD2 LMX1B SOX2 B3GAT3 FGFR2 TBX5 CEP152 BCOR PCGF2 SCUBE3 ORC4 GSC DYNC2LI1 TMEM231 RUNX2 NIPBL CUL7 NSDHL KCNAB2 NKX3-2 IFT172 GNPTAB NEK1 TOR1A FUZ B3GALT6 SNRPB COL11A2 FGFR3 UBE4B IFT140 MTX2 ALX4 CCDC22 BGN VANGL1 SETBP1 MSX2 EVC PSMB8 WASHC5 SKI SIX6 DDRGK1 CDC45 UBA1 PTCH2 SF3B4 FRAS1 TBC1D24 PTDSS1 GPX4 TTC21B HSPG2 RNU4ATAC TBCK CASZ1 NOG RIPK4 PRDM16 DDR2 B4GALT7 CEP120 ERMARD CSPP1 TAPT1 FLI1 BMPR1A RPS19 POR PAM16 CHD4 HDAC6 CENPJ IDUA NFASC FLNB NAA10 GABRD PDPN DLK1 IFT81 ALPL WNT7A HP_APLASIA_HYPOPLASIA_OF_THE_RIBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_RIBS ATR LMX1B SOX2 KIAA0586 SLC35D1 B3GAT3 BMP2 FBN1 SUFU SPEN BMPER CEP152 INPPL1 ORC1 RTL1 ROR2 KMT2A WDR35 SCUBE3 TRPV6 MMP23B RSPO2 DYNC2LI1 C2CD3 CUL7 NSDHL SOX9 DYNC2I1 KCNAB2 NKX3-2 IFT172 GNPTAB CHST3 NEK1 IFT80 TOR1A FUZ B3GALT6 COL2A1 SNRPB COL11A2 FGFR3 UBE4B HES7 PORCN RRAS2 DYNC2I2 IFT140 CCDC22 PTH1R WNT3 SMO RUNX2 EZH2 VANGL1 SETBP1 EVC DYNC2H1 SLC26A2 WASHC5 SKI ATP6V1B2 SIX6 DDRGK1 UBA1 PTCH2 SF3B4 TBC1D24 GPX4 FIG4 COL11A1 TTC21B RERE PRKCZ HSPG2 IHH RNU4ATAC TBCK PLCB3 CASZ1 PRDM16 DDR2 VAC14 MYF5 MEG3 CEP120 ERMARD CSPP1 TAPT1 FLI1 TBX6 LUZP1 INTU LBR RPS19 IFT122 TRIP11 PAM16 PUF60 HDAC6 CENPJ NFASC FLNB TRPV4 SRCAP DNMT3A ALG12 FLNA ORC6 PTPN11 GABRD PDPN DLK1 IFT81 PTCH1 IFT43 ALPL EVC2 HP_APLASIA_HYPOPLASIA_OF_THE_SCAPULAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_SCAPULAE DYM RSPO2 FGFR3 WDR35 SLC35D1 ACTB FIG4 COL11A1 POR TBX15 TRIP11 GNPTAB INPPL1 RTL1 COL2A1 PCNT RIPK4 COL11A2 TBX3 FGFR1 RUNX2 GSC VAC14 MEG3 SOX9 PSMB8 DLK1 NSDHL FLNA HP_APLASIA_HYPOPLASIA_OF_THE_STERNUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_STERNUM FRAS1 PCGF2 NFIX NOG BUB1B FIG4 VAC14 SETBP1 RBM10 ORC6 TMEM231 SOX9 ARID1B NIPBL ORC1 HP_HEREDITARY_NONPOLYPOSIS_COLORECTAL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEREDITARY_NONPOLYPOSIS_COLORECTAL_CARCINOMA DCC PIK3CA SRC AURKA PTPRJ RAD54B APC BUB1B CCND1 CHEK2 BAX TGFBR2 FLCN DLC1 TP53 BUB1 MCC MSH6 NRAS PLA2G2A PTPN12 MLH3 CTNNB1 EPCAM EP300 AKT1 FGFR3 PDGFRL PMS2 AXIN2 BRAF TLR2 HP_ACUTE_LYMPHOBLASTIC_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_LYMPHOBLASTIC_LEUKEMIA MSH2 BRCA2 NUP214 TAL1 SRP54 BUB3 BUB1B GFI1 BUB1 NSUN2 TP53 BLM FLT3 ELANE CHEK2 TRIP13 SETD2 PIGL LIG4 APC2 CDKN2A CEP57 BCR IKZF1 ABL1 BAX HAX1 MDM2 NSD1 TCIRG1 NBN GNB1 TAL2 HP_INTESTINAL_CARCINOID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTESTINAL_CARCINOID MEN1 CDKN1A CDKN1B CDKN2C SDHD CDKN2B HP_PANCREATIC_ADENOCARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_ADENOCARCINOMA CDKN2A PALLD PIK3CA RNF43 TGFBR2 BMPR1A MLH1 BRCA2 NTHL1 PMS2 CDC73 STK11 TP53 SEMA4A PMS1 MLH3 KRAS RPS20 EPCAM MSH2 AAGAB SMAD4 FAN1 RABL3 COL14A1 BRCA1 MSH6 PALB2 HP_FOLLICULAR_THYROID_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOLLICULAR_THYROID_CARCINOMA PIK3CA SDHC MINPP1 SDHB SRGAP1 USF3 SDHD HABP2 AKT1 PTEN FOXE1 HRAS KLLN SEC23B NRAS HP_SQUAMOUS_CELL_CARCINOMA_OF_THE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SQUAMOUS_CELL_CARCINOMA_OF_THE_SKIN ERCC3 ERCC2 ERCC5 SMARCAD1 TYR KRT14 MC1R DDB2 RSPO1 GJB2 XPC TINF2 TERC KRT5 OCA2 IL7 GJB6 LMNA TERT ERCC4 TMC8 HP_ADRENOCORTICAL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENOCORTICAL_CARCINOMA CDKN2A APC CDKN1B TP53 CDKN2C PRKAR1A MDM2 CDKN1C MEN1 CDKN1A IGF2 KCNQ1 KCNQ1OT1 CHEK2 CDKN2B HP_GANGLIONEUROBLASTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GANGLIONEUROBLASTOMA KIF1B PHOX2B MYO1H BDNF EDN3 GDNF HP_NEOPLASM_OF_THE_STOMACH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_STOMACH PTCH2 MLH1 BCL10 SRC APC AURKA BMPR1A MSH2 BUB3 BAP1 BUB1B BUB1 PDGFRA SUFU CHEK2 POT1 BAX AXIN2 FLCN SEMA4A KRAS TP53 CDH1 SMAD4 CEP57 RPS20 IRF1 TERF2IP MITF AAGAB PTPN12 ERBB2 MUTYH IL1B CDKN2B AKT1 MLH3 FGFR3 COL14A1 TLR2 DCC PIK3CA SDHB MC1R PTPRJ SDHC RAD54B PRKAR1A KIT TERT SDHA CDKN2A STK11 CCND1 MGMT BLM ENG CASP10 TRIP13 CDK4 DLC1 IL1RN KLF6 MCC MSH6 MSH3 ACD NRAS PLA2G2A MDM2 CTNNB1 EP300 PDGFRL PTCH1 TREX1 BRAF FGFR2 HP_MALIGNANT_GENITOURINARY_TRACT_TUMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALIGNANT_GENITOURINARY_TRACT_TUMOR RPS29 MLH1 RPS28 RPL11 RPS10 GATA1 RPS26 RPS15A MSH2 RPL27 ADA2 RPL26 RPL18 BLM RPL15 TSR2 RPS19 RPS20 RPL5 RPS7 MSH6 RPL31 RPL35 RPS17 RPS27 RPL35A RPS24 HP_CHONDROSARCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHONDROSARCOMA EXT1 NR4A3 EXT2 IDH2 TAF15 IDH1 PTH1R HP_PAPILLARY_RENAL_CELL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAPILLARY_RENAL_CELL_CARCINOMA PRCC FOXE1 MET MINPP1 HABP2 LMNA FH CDC73 HP_PITUITARY_PROLACTIN_CELL_ADENOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PITUITARY_PROLACTIN_CELL_ADENOMA MEN1 CDKN1B GPR101 CDKN2C PRKAR1A YY1 AIP CDKN1A CDKN2B HP_DUODENAL_ADENOCARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUODENAL_ADENOCARCINOMA BMPR1A SMAD4 APC GREM1 MSH2 MLH1 NTHL1 HP_RENAL_ANGIOMYOLIPOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_ANGIOMYOLIPOMA TSC1 IFNG TSC2 CDKN1B MVK HP_OVARIAN_PAPILLARY_ADENOCARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVARIAN_PAPILLARY_ADENOCARCINOMA PIK3CA PRKN AKT1 CDH1 CTNNB1 OPCML ERBB2 HP_MULTIPLE_MYELOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_MYELOMA GBA LIG4 CCND1 ASXL1 SRSF2 TET2 KIT HP_ALVEOLAR_RHABDOMYOSARCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALVEOLAR_RHABDOMYOSARCOMA PAX3 KEAP1 FOXO1 PAX7 DICER1 HP_PARATHYROID_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARATHYROID_CARCINOMA GCM2 MEN1 CDKN1A CDC73 CDKN1B CDKN2C CDKN2B HP_POSTERIOR_PHARYNGEAL_CLEFT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_PHARYNGEAL_CLEFT CR2 ICOS TNFSF12 NFKB2 CD81 TNFRSF13C PRKCD MID1 NFKB1 TNFRSF13B MS4A1 CD19 HP_LIMB_GIRDLE_MUSCULAR_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_GIRDLE_MUSCULAR_DYSTROPHY TRAPPC11 SYNE2 POMT2 FHL1 DAG1 CRPPA SYNE1 LMNA DPM3 HNRNPDL ANO5 ACTA1 EMD TMEM43 SGCA HNRNPA1 HP_BASAL_GANGLIA_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BASAL_GANGLIA_CYSTS NUP62 CPT2 PDHA1 GFM1 LONP1 ADAR MT-ATP6 HP_HYPERACTIVE_DEEP_TENDON_REFLEXES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERACTIVE_DEEP_TENDON_REFLEXES GALC C19orf12 MRE11 BEAN1 GJA1 MECP2 ATXN2 DNM1L SDHA TANGO2 ATP6AP2 PRPS1 TIMM8A PMP22 SLC2A1 ATXN1 SMG9 PRSS12 UROC1 PRNP SAMD9L EGF SDHAF1 PRRT2 SDHB KCNC3 MAB21L1 CNNM2 STUB1 OFD1 SDHD HP_ABNORMAL_ANTERIOR_HORN_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ANTERIOR_HORN_CELL_MORPHOLOGY IGHMBP2 SOD1 GLE1 TFG NEFH DCTN1 UBA1 VRK1 SMN1 CPLANE1 CEP126 ASAH1 PRPH SMN2 ATXN3 SETX HP_CEREBRAL_HYPOMYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_HYPOMYELINATION FAM126A WDR26 EIF2B2 PLP1 BCAP31 EIF2B1 PIGL PIGW TUBB4A ALG2 SOX10 PIGO TBCD SLC25A12 CYB5A STXBP1 SPATA5 PGAP2 PHGDH PIGY POLR3B EIF2B5 GJC2 RARS1 EIF2B3 PIGV EIF2B4 VPS11 CYB5R3 PGAP3 SLC1A4 ADSL HP_FOCAL_HEMICLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_HEMICLONIC_SEIZURE GABRG2 SCN1A STXBP1 FRRS1L GABRA1 SLC12A5 GRIN2A SCN2A KANSL1 SCN1B SMARCAL1 SCN9A PCDH19 HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLAR_VERMIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLAR_VERMIS ATR LARGE1 SEPSECS MRE11 KIAA0586 BUB1B SIX3 CEP290 INTS1 FGFR1 VPS51 RAB3GAP1 KRAS PGAP1 RPE65 TCTN3 RERE C2CD3 NUP37 CEP41 ZIC2 DAG1 CENPF ITPR1 TCTN1 RPGRIP1L ZEB2 IFT140 ARL13B AIPL1 TMEM237 TMEM67 INPP5E GPC4 TUBB3 DYNC2H1 ZNF423 CBY1 ARL3 KATNIP PIGN COG1 MKS1 NPHP1 SLC35A2 TUBB SHH IQCB1 PPP1CB GPC3 RDH12 PSAT1 FKRP POMGNT2 FOXC1 NPHP3 ATP6V0A2 B9D1 ASXL1 CEP120 SMARCC2 FAR1 MYOD1 TSEN2 KIF7 DPH1 DISP1 ZIC1 ATP6V1A FGF8 CHD7 TXNDC15 LCA5 EVC2 B4GAT1 ARID2 SPECC1L PPP1R21 NMNAT1 CWF19L1 BUB1 AHI1 TMEM138 LRRC32 MEF2C DCHS1 PLG TCTN2 WDR35 WDR81 ARID1B DENND5A COL4A1 RAB18 SACS TSEN34 SRPX2 B9D2 CRPPA NEK1 CDKN1C DHCR7 SETD2 GMPPB TULP1 STIL CCDC22 GOT2 HHAT PIBF1 EVC GLI2 PIEZO2 ATN1 PMM2 TBC1D24 CC2D2A TMEM216 MDH1 B3GALNT2 NRAS B4GALT1 PIGU PHGDH KCNQ1 CRX SMG9 CPLANE1 SMARCA4 FKTN DPYSL5 USP9X MAB21L1 POMGNT1 ALX4 GLI3 ATP6V1E1 SUFU RAPSN CSPP1 TSEN15 KIAA0753 POMT2 ARMC9 PDE6D LAMA1 WASHC5 RXYLT1 MPL SOX11 WDR73 BUB3 FLVCR2 TMEM231 POLR3A EBP USP45 SLC25A24 MVK OFD1 CCDC32 RAB3GAP2 ADGRG1 NUP88 GDF6 HYLS1 LAMB1 KCNQ1OT1 POMK DYNC2I1 BCOR BMP4 TBCK SPATA7 IFT80 RAC1 TBC1D20 LRAT APC2 DYNC2I2 IMPDH1 WARS2 CEP104 DPF2 FTO TMCO1 ACY1 SEMA3E ATP6V1B2 SMARCB1 GRIA3 VPS4A EPG5 FRMD4A ATP2B3 CRB1 TOGARAM1 HRAS TFAP2A RBM10 CDC42 SRD5A3 AFF3 PTEN POMT1 FAM149B1 IGF2 TAF1 RD3 SMARCD1 ALG3 OPHN1 ARID1A PCYT1A RAB11B TMEM107 SOX4 SEMA6B KCNJ13 SLC18A3 EXOSC8 AP1S2 NID1 PCGF2 CPT2 DOK7 NSD1 SMARCE1 RPGRIP1 THOC2 NCAPG2 IFT172 ASXL3 PAFAH1B1 EXOC2 L1CAM TRRAP MUSK FDXR PACS1 SLC25A19 RNU4ATAC EBF3 PI4KA CEP57 TUBA1A VPS35L THG1L GRM1 BRF1 TRIP13 PRKDC TSEN54 CEP164 RNF113A GUCY2D FAT4 HP_SEVERE_MUSCULAR_HYPOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_MUSCULAR_HYPOTONIA LARGE1 PURA PEX6 MYL1 ZNHIT3 MBD5 PEX11B LMOD3 DMXL2 PEX1 PEX13 AIFM1 MPZ B4GAT1 TRIP4 CHAMP1 EPB41L1 DEAF1 DPM2 PEX26 LMNA SLC25A1 BRSK2 CLTC ACTA1 PIGG ASCC1 KCNQ5 NBEA ALG14 HIVEP2 CAMK2B B3GALNT2 IBA57 KDM5B VAMP1 NEB CIC PEX3 TBCK PEX10 CDH15 PEX12 TBC1D24 BMP4 CACNG2 FKRP TAOK1 KIRREL3 KLHL41 POMT2 UBA1 ASH1L SYNGAP1 RAB11A CSNK2B ZMYND11 TRPM3 MYT1L SLC39A8 NDUFS6 MPLKIP SPTBN4 STXBP1 EEF1A2 GCDH GPT2 KIF1A SPEG PEX16 ABAT SLC25A12 PEX5 ITPA MYMK GRIN2B CCDC174 TPM3 SNRPN PEX2 MFF FKTN PIGN POMT1 GRIN1 SET SETD1B TCF4 BICD2 MED12L CUX1 PEX14 DOCK8 GCH1 POMGNT1 CARS2 KLHL40 PEX19 PPP3CA STRADA FKBP14 MTM1 PNPT1 RMND1 DYNC1H1 CCDC88A DLL1 CAMK2A HP_ACUTE_ENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_ENCEPHALOPATHY NDUFS4 RANBP2 SQOR PCCB SLC25A15 ACY1 SLC22A5 COG8 PCCA HP_HYPOPLASIA_OF_THE_VENTRAL_PONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_VENTRAL_PONS SEPSECS VRK1 TSEN34 TSEN54 TSEN2 TSEN15 HP_CEREBELLAR_VERMIS_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBELLAR_VERMIS_ATROPHY MME GJB1 PIK3R5 ITPR1 HTT SETX FA2H CACNA1G PMPCA PRKCG QARS1 CACNA1A CACNA2D2 TRPC3 GRID2 FAR1 PUM1 TUBB TMEM240 SCYL1 COX20 XRCC4 DLG4 STXBP1 VPS41 PIGS RNU12 SACS CHP1 ATXN8OS DAB1 TDP1 PEX16 KIF1A CUL4B LMX1B HP_IMPAIRED_DISTAL_PROPRIOCEPTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_DISTAL_PROPRIOCEPTION POLG TWNK CYP7B1 TDP1 POLR3A MTTP DARS2 HP_SEVERE_EXPRESSIVE_LANGUAGE_DELAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_EXPRESSIVE_LANGUAGE_DELAY GRIA3 TAF1 HERC1 ARID1B EHMT1 RSPRY1 DPYD SH2B1 POGZ ASXL1 KMT2C SPATA5 HP_LOBAR_HOLOPROSENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOBAR_HOLOPROSENCEPHALY TMEM107 TMEM67 TMEM216 CC2D2A TCTN2 TCTN1 TCTN3 B9D1 FGFR1 B9D2 MKS1 TMEM231 TXNDC15 RPGRIP1 ZIC2 RPGRIP1L RTTN CSPP1 TMEM237 CEP290 HP_CEREBRAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_HYPOPLASIA METTL5 BRAF STIL CEP135 PYCR2 HSD17B4 MYSM1 FDXR BUB1B FIG4 KIAA0586 GCDH MKS1 SLC35C1 CIT CEP152 DHCR7 KNL1 ARHGEF9 COASY DPM1 SASS6 RNU4ATAC HHAT NCAPD3 FH TRAPPC14 TAF13 COPB2 PHGDH WDR45B ANKLE2 ASPM VAC14 C2CD3 KIF14 MCPH1 MFSD2A CEP63 CSPP1 CDK5RAP2 WDR62 RTTN PHC1 CENPJ CDK6 HP_PONTOCEREBELLAR_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PONTOCEREBELLAR_ATROPHY LAMA2 RORA FA2H CCDC88C VPS4A DPM1 SETX HP_IMPAIRED_DISTAL_VIBRATION_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_DISTAL_VIBRATION_SENSATION VCP ABCD1 KCND3 CACNA1G REEP2 KIF5A SPAST GBA2 DCAF8 ALDH18A1 PRKCG LMNB1 POLG FMR1 DHH GCH1 KCNC3 TWNK PDYN CHCHD10 B4GALNT1 SETX SH3TC2 LRSAM1 HP_INTELLECTUAL_DISABILITY_PROGRESSIVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTELLECTUAL_DISABILITY_PROGRESSIVE SNRPN NKX2-5 SLC35C1 KCNH1 L2HGDH RAB3GAP2 ARX ATRX NDE1 SLC9A6 UBE3A PEX1 ERCC5 TCF4 KAT6B CC2D1A NDP ERCC3 DMPK WDR81 NDUFB11 XPA AHSG TK2 KDM5C UROC1 AP4M1 OFD1 PTS ACOX1 SNAP29 ERCC4 ERCC2 HCCS CTSD SRD5A3 XPC TSHB GCH1 B3GLCT ARHGEF9 COX7B MGAT2 DDB2 SUCLA2 SLC16A2 AIFM1 MECP2 MTRR TONSL HP_MENINGOENCEPHALOCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MENINGOENCEPHALOCELE LARGE1 FKRP POMT2 FKTN POMT1 HP_INTELLECTUAL_DISABILITY_BORDERLINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTELLECTUAL_DISABILITY_BORDERLINE CLDN11 MAGEL2 OCA2 TBC1D24 ENTPD1 SNRPN SRPX2 YY1AP1 TRIO GABRG2 NDN NRAS DMPK CPLX1 TRAPPC11 GRIN2A KCNMA1 TONSL AASS HP_THICK_CEREBRAL_CORTEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICK_CEREBRAL_CORTEX ATP6V1E1 KATNB1 NDE1 CPLX1 ATP6V1A RELN ATP6V0A2 TBC1D24 PAFAH1B1 APC2 HP_FRONTOTEMPORAL_CEREBRAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRONTOTEMPORAL_CEREBRAL_ATROPHY MAPT HSD17B10 TMEM106B PSEN1 CHMP2B GRN COG4 PRKAR1B SPG21 C9orf72 TREM2 VCP PLA2G6 GABRA5 SQSTM1 HP_LOWER_LIMB_HYPERTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_HYPERTONIA MTRR SEPSECS ATL1 CLDN11 KIDINS220 TSEN15 ASXL1 VPS37A SDHA SLC35C1 MTPAP ATRX ALDH18A1 TSEN2 FA2H SDHAF1 TSEN54 RARS1 LBR KAT6A FAR1 SDHB PNPT1 SLC33A1 KDM1A KDM5C TSEN34 SPG7 SDHD HP_ABDUCENS_PALSY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABDUCENS_PALSY MEN1 TRPV4 CDH23 WDR26 PSAP AIP CCDC174 HP_FUSION_OF_THE_CEREBELLAR_HEMISPHERES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FUSION_OF_THE_CEREBELLAR_HEMISPHERES POMK POMGNT1 POMT2 POMT1 GMPPB FKRP HP_FRONTAL_CORTICAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRONTAL_CORTICAL_ATROPHY PALS1 JARID2 MYT1L KMT2E CCDC32 HUWE1 KAT8 DPYSL5 SCYL2 HS2ST1 BPTF VCP ZMIZ1 PUS7 DDX6 PTPN23 MEF2C MED13 UBR7 WASF1 NTNG1 NTNG2 SPG11 WDFY3 DOCK3 RLIM POMT2 ACTL6A MAPK8IP3 TRIP12 HPDL SLC12A2 SVBP TANC2 HTT CYB5A MED27 BCORL1 GRIA4 KDM4B VPS13A TNRC6B PSMD12 TRMT1 CNOT3 TRAPPC4 PARS2 ACTL6B KCNMA1 SATB1 FBXW11 AGO2 CYB5R3 TCF20 OPHN1 MADD HP_ABNORMAL_AGGRESSIVE_IMPULSIVE_OR_VIOLENT_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_AGGRESSIVE_IMPULSIVE_OR_VIOLENT_BEHAVIOR PSEN1 CNTNAP2 PCDH19 SATB2 NTRK1 ANK3 HERC2 PUS7 EIF2S3 VPS16 GRIN2A NDE1 MAN1B1 SASS6 SLITRK1 SPOP NDP SLC6A8 MAPT MMP23B C9orf72 LINGO1 RERE PRNP KMT2C UROC1 PPP2R5D NBEA HIVEP2 SPTBN1 KAT5 KDM5B SPEN ATXN10 PUS3 NEXMIF CDH15 SIN3A WASF1 OCRL MGAT2 DDX3X PRODH KCNA1 CSNK2B PIGP ZMYND11 SHANK3 FIG4 TRPM3 IMPA1 CACNA1A EP300 SYT1 VCP STXBP1 TBP LARP7 ATP1A2 USP7 PRKCZ CDKL5 GABBR2 NSDHL MANBA CASK SMARCC2 TSC1 NDST1 SUCLG1 NDN CACNB4 TSC2 MADD PAK3 ALDH5A1 UNC80 ADNP PHIP EHMT1 SIK1 CHMP2B MED12L EEF1A2 AP1S2 CUX1 KIF15 DNM1 UBTF SLC2A1 GRN CDH2 SRCAP HDAC4 SNRPN VPS13A ENTPD1 SYN1 UBE2A CHD2 DLL1 SETD1A PLA2G6 FTSJ1 DYNC1I2 CEP85L USP9X DMXL2 ARID2 NTNG2 MBD5 TRIM8 ECM1 DCHS1 PDE2A KDM5C DMPK TMEM240 EPB41L1 GRIA2 DEAF1 BRSK2 ARID1B MAGEL2 PIGH HEPHL1 NIPBL CAMK2B ABCA12 SPR GRIA3 PNKP KCNQ3 PACS1 TMEM106B HPRT1 FMR1 NONO DPAGT1 DHCR7 SETD2 TAOK1 CILK1 UBE4B WDR45 BPTF EFHC1 KIRREL3 RUSC2 KIF5C ASH1L SYNGAP1 RAB11A FRMPD4 RAI1 CTNNB1 ATG7 SNORD116-1 HNRNPH2 HDC CREBBP ODC1 CLN5 TIMM50 KIF1A HSPG2 GRIN2B TCF4 SQSTM1 KMT2A SLC25A13 CAMTA1 MYT1L PWRN1 NAA10 DPYSL5 PRRT2 SLC2A3 KNL1 GRIN1 MAB21L1 MKRN3 PWAR1 PANK2 ADAT3 SLC1A3 FGF14 SLC52A2 WAC BCAP31 ATP1A1 NFASC SPAST AFF2 ELP2 RPS6KA3 PAH PDPN LEPR SOX11 CAMK2A IQSEC2 CUX2 SMARCA2 SIM1 THOC2 ZMIZ1 KIF11 BCOR SLC6A17 TRIO FLII ESS2 GRM7 FBXW11 TRIP12 PIGQ CLTC NFIX KCNQ5 SCN11A RTTN CLCN4 ADSL INPP5E MECP2 TKT SCN1B TBX1 APC2 NAGLU LINS1 GCSH WARS2 DPF2 GATAD2B SHMT2 GLDC MAPK1 TCF20 SCN1A MAPK10 DGCR8 AUH WDR62 FMO3 CUL4B SMARCB1 TTC19 HECW2 GNAO1 RORB TTI2 ZBTB20 GABRD TMCO1 VAMP2 PIGF NFIB GAMT IQSEC1 ALDH4A1 MED13L LUZP1 SETD1B ATP7B KDM4B OCA2 DPYD KCNT1 SVBP ATP1A3 PIGL SMARCD1 TMEM231 PSMD12 JRK MED25 CYP27A1 POGZ SLC25A22 ARID1A SOX4 AMT TYROBP SH2B1 KMT2E MAOA EBP SCN2A CHAMP1 OPHN1 DGCR2 NSD1 NEUROD2 SMARCE1 PTCHD1 GABRA1 ABCA2 KCNAB2 GJB2 CIC RLIM ASXL3 ATP13A2 UQCC2 CACNG2 DNMT3A SMARCA4 SARS1 MED12 DGCR6 SOX5 AGO2 FRRS1L NKAP KPTN GLS FOXP1 PYCR2 SKI PIGY CLTCL1 CEP152 GABRB3 NAT8L ALG14 NALCN SLC6A4 ARX HSD17B10 KDM3B HTR2A CASZ1 PRDM16 C12orf4 CLCN2 SET METTL5 RBBP8 SLC1A4 RPL10 NAGS DYRK1A ATRX TREM2 DOCK8 NPAP1 HTT SPATA5 PPP3CA STEEP1 DYNC1H1 SMG8 SNORD115-1 TREX1 FAT4 HP_CONGENITAL_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_NYSTAGMUS PALS1 JARID2 TBC1D24 BLOC1S6 MYT1L KMT2E CCDC32 HUWE1 KAT8 KRT14 DPYSL5 HS2ST1 BPTF ZMIZ1 PUS7 DDX6 PTPN23 ADAR MED13 UBR7 PGAP1 WASF1 NTNG1 NTNG2 WDFY3 KRT5 DOCK3 PAX6 LRP5 RLIM ACTL6A MAPK8IP3 TRIP12 HPDL SLC12A2 SVBP NUP62 CNGB3 TANC2 HTT MT-ATP6 MED27 BCORL1 GRIA4 KDM4B TNRC6B PSMD12 TRMT1 TULP1 CNOT3 TRAPPC4 ACTL6B KCNMA1 SATB1 FRMD7 FBXW11 AGO2 TCF20 ATP6V1B2 MADD HP_IMPAIRED_DISTAL_TACTILE_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_DISTAL_TACTILE_SENSATION ATXN1 ATL3 MPV17 ATL1 SPTLC2 SETX DCAF8 HARS1 DHH KLHL9 SPTLC1 HP_IMPAIRED_VIBRATION_SENSATION_AT_ANKLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_VIBRATION_SENSATION_AT_ANKLES ABCD1 REEP2 KCND3 B4GALNT1 CACNA1G SPAST GBA2 ALDH18A1 PRKCG HP_RETROCEREBELLAR_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETROCEREBELLAR_CYST GRIA3 GRM1 ZSWIM6 AHDC1 DOCK6 SNX14 OPHN1 HP_OLIVOPONTOCEREBELLAR_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIVOPONTOCEREBELLAR_HYPOPLASIA POMK TOE1 POMGNT1 POMT2 POMT1 PMM2 ATXN2 MINPP1 GMPPB TSEN54 PPP2R1A RTTN FKRP HP_DILATION_OF_LATERAL_VENTRICLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DILATION_OF_LATERAL_VENTRICLES STXBP1 ODC1 SATB1 EEF1A2 TUBB2B MBD5 PTPN23 KIF1A ATP6AP2 ALG2 SLC35A2 PSAT1 PDHA1 VPS51 SON NDUFB11 GRIN2B YIPF5 CCDC174 SNRPN ZIC1 TNFRSF11A NFIX CHAMP1 EPB41L1 DEAF1 SPG11 FBXW11 BRSK2 GFM2 GRIN1 CLTC CSPP1 GRN SET KCNQ5 PPP2R5D NBEA D2HGDH HIVEP2 CAMK2B SETD1B TCF4 GLUL KDM5B KIDINS220 MED12L CUX1 LONP1 KIAA0586 CIC PUS3 NEK1 ASXL3 ZEB2 DOCK8 RAC1 CDH15 HS6ST2 CACNG2 KIAA0753 KLHL15 TAOK1 RAB3GAP1 KIRREL3 PPP3CA VPS13A WARS2 COG5 ASH1L SYNGAP1 EZH2 RAB11A CSNK2B ZMYND11 TUBB3 TRPM3 DYNC1H1 DLL1 MED25 GCDH MYT1L CAMK2A DCX HP_LOSS_OF_ABILITY_TO_WALK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOSS_OF_ABILITY_TO_WALK POMT1 TENT5A HSD17B10 KDELR2 MBTPS2 REPS1 RRM2B FKRP FA2H POMT2 ERBB4 DNAJB6 MAPT VAC14 NEU1 CRAT SDHA NUP62 CDKL5 VPS16 DES LARGE1 ADAR MT-ATP6 GMPPB KLHL9 GABBR2 SDHAF1 BVES STXBP1 TWNK GIPC1 LRP5 SDHB GFM2 NTNG1 AP4S1 MECP2 RNASEH1 PLEC DYSF FAM126A SDHD SMC1A HP_ABNORMAL_AUDITORY_EVOKED_POTENTIALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_AUDITORY_EVOKED_POTENTIALS SPTBN4 OPA1 NEFL GJC2 NDRG1 GALC DIAPH3 MTMR2 TIMM8A EBP LMNB1 ERCC8 SOX10 ERCC6 ERCC4 OTOF MYH3 PSAP SH3TC2 CYP27A1 EDNRB MOGS NMNAT1 HP_JERKY_HEAD_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JERKY_HEAD_MOVEMENTS GABRG2 JRK PRNP DLAT CACNA1H SLC2A1 GABRB3 MAPT PIGT GABRA1 VAMP1 HP_PERIVENTRICULAR_LEUKOMALACIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIVENTRICULAR_LEUKOMALACIA ARHGAP31 NOTCH1 LONP1 DDHD2 MORC2 RBPJ SON CLCN4 TBCK PDHB EOGT USP7 PUF60 DOCK6 DLL4 PC BRF1 PDHA1 MPLKIP GTF2E2 NRROS TARS1 TRMT1 TET3 ERCC3 EDEM3 RNF113A NDUFC2 ARID2 GTF2H5 ERCC2 HK1 AARS2 HP_GRAMMAR_SPECIFIC_SPEECH_DISORDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GRAMMAR_SPECIFIC_SPEECH_DISORDER MAPT FOXP2 GRN PSEN1 TMEM106B C9orf72 CHMP2B GALT TREM2 VCP HP_SLEEP_WAKE_CYCLE_DISTURBANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLEEP_WAKE_CYCLE_DISTURBANCE DLL1 SNRPN GLI2 NODAL FOXH1 STAG2 SHH APOE UBE3A TDGF1 GRIA3 CDON SMC1A PTCH1 ZIC2 GAS1 FGF8 CDKL5 SIX3 CSNK1D TGIF1 PER3 TELO2 DISP1 KIF15 PSEN2 TAF1 DHCR7 ATP10A FGFR1 RAI1 PER2 HP_PROGRESSIVE_LEUKOENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_LEUKOENCEPHALOPATHY COA8 KIF5A PLAA AARS2 SDHA HP_DISTAL_SENSORY_LOSS_OF_ALL_MODALITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_SENSORY_LOSS_OF_ALL_MODALITIES HK1 CCT5 SPTLC1 ATL1 SPTLC2 DHH HP_UPPER_LIMB_SPASTICITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_LIMB_SPASTICITY THOC2 CYP7B1 SPART ERLIN2 SELENOI SIGMAR1 SATB1 PIGA WASHC5 ALS2 ZFYVE26 CLCN4 SPG11 RARS2 KIF5A GBA2 FUS ACTL6B GJC2 TBCD HP_DYSPLASTIC_CORPUS_CALLOSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSPLASTIC_CORPUS_CALLOSUM KAT5 AGTPBP1 SEPSECS LMNB1 RTTN HSPA9 SIN3A THOC6 ODC1 PPP1R12A TSEN15 PUS3 SON NONO KIAA0586 TBCK ATAD3A C2orf69 SVBP DCHS1 TSEN2 EARS2 PIK3C2A TUBA8 TSEN54 MCOLN1 SIN3B DDB1 GPSM2 PIGH TSEN34 NT5C2 FAT4 HP_BASAL_GANGLIA_GLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BASAL_GANGLIA_GLIOSIS PRNP LONP1 NDUFS2 SCO2 NUP62 VRK1 PDHA1 ADAR NDUFAF3 NDUFB8 MT-ATP6 SURF1 HP_MORNING_MYOCLONIC_JERKS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MORNING_MYOCLONIC_JERKS EFHC1 KCNQ3 CACNB4 SCARB2 CLCN2 JRK GABRD CILK1 CSTB GABRA1 PRICKLE1 HP_LOSS_OF_PURKINJE_CELLS_IN_THE_CEREBELLAR_VERMIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOSS_OF_PURKINJE_CELLS_IN_THE_CEREBELLAR_VERMIS NOP56 SACS ATXN1 TSEN54 CACNA1G HP_MOTOR_AXONAL_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTOR_AXONAL_NEUROPATHY HNRNPA1 C19orf12 OPA1 WARS1 PEX10 GAN TRAPPC11 AAAS MORC2 KCNK9 AIFM1 VCP KLC2 SPG7 ATL1 TBCD COASY WDR48 SPTLC2 CTDP1 HINT1 PLEKHG4 PNPLA6 HARS1 XK SPTLC1 VWA1 ATL3 HNRNPA2B1 GMPPA HMBS HP_POOR_FINE_MOTOR_COORDINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_FINE_MOTOR_COORDINATION GABRG2 RAD51 SCN2A SCN9A HERC2 RDH11 DCC NTN1 GNB5 SCN1B NDN MTRFR MFN2 SCN1A DMPK PRNP SLC30A10 PDHX FMR1 PWRN1 MEG3 MMACHC ALMS1 HCN1 DARS2 RNU12 SLC2A3 DLK1 PPP2R2B RTL1 MKRN3 PCDH19 PWAR1 VCP STX1B DNAL4 ADGRV1 C19orf12 FXN RAI1 THG1L STXBP1 GABRA1 FOXP2 ZEB2 NPAP1 HTT GABRD SNRPN MAGEL2 SNORD116-1 PIEZO2 CXCR4 SNORD115-1 HP_POOR_GROSS_MOTOR_COORDINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POOR_GROSS_MOTOR_COORDINATION POMT1 FKRP PDHX SNRPN PWRN1 POMT2 CLN5 KCNQ2 FOXP2 HERC2 MAGEL2 SNORD116-1 NPAP1 LARGE1 SNORD115-1 MKRN3 GMPPB PWAR1 NDN DCX HP_CORTICOSPINAL_TRACT_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORTICOSPINAL_TRACT_HYPOPLASIA L1CAM RAI1 FLII DEAF1 IQSEC2 PDHB HP_ATTENTION_DEFICIT_HYPERACTIVITY_DISORDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATTENTION_DEFICIT_HYPERACTIVITY_DISORDER SH3KBP1 KMT2E CCDC32 NF1 GTF2I HDAC8 CACNA1A HERC2 GRIN2A PTCH1 GALC NDP DDB1 TNRC6B SYNJ1 RERE MCTP2 DLL1 NOP56 TDGF1 FGF8 WDFY3 SH2B1 NBEA SLC9A7 CDK19 SPTBN1 KAT5 SLC13A5 PIK3CA TGFBR2 FRMPD4 MAP1B PMS2 SIX3 CDKN1C PTCHD1 TSC2 SIN3A ASPM RSRC1 TSHB ARX GABRG2 GRIA4 MLH3 PPM1D CNKSR2 MSH2 CLTC FOXH1 CSGALNACT1 ACTL6B SLC6A1 KCNMA1 TBL2 GABRB2 ARF1 NTRK2 GABRA2 TRAK1 HUWE1 BPTF USP7 CARS1 GLI2 CRBN PLAG1 ZIC2 PTPN23 SLC1A2 SEMA4A TSC1 HSPG2 UBR7 SYP NDN DLG3 CACNA1H ADNP PHIP MED12 DNAJC12 CABP4 SLC6A8 MED12L MED13 ZDHHC9 NCF1 KIF14 RAI1 HPDL TGIF1 DNAJC30 DPH1 BCORL1 CDH2 KDM4B SRCAP BCR NEXMIF SNRPN ADH5 PSMD12 ATP6V1A CHD7 BCL7B DMD OCRL AGO2 DISP1 SCN1A UBA5 DYNC1I2 ACSL4 ZNF711 RAD21 JARID2 SEC24C YWHAG TBX1 MID2 DNM1 ALKBH8 PPP1R21 SHH TUBB2B COMT ZMIZ1 JMJD1C TLK2 DYRK1A WASF1 RAB39B DHTKD1 CRH GDI1 SHOC2 ELN WBP11 RPS6KA3 NODAL ALG13 EIF4H STAG2 MECP2 HMGA2 FMR1 USP27X CDON NSUN2 SVBP CYFIP2 TANC2 SETD2 MED27 PARS2 FGFR1 BRD4 AARS1 BUD23 SCN3A CNOT3 KANSL1 HIRA SNORD116-1 TCF20 CLDN3 HNRNPH2 CIC HDC EEF1A2 IQSEC2 KAT8 ODC1 STXBP1 SLC7A6OS WWOX SMPD1 NLGN1 PWRN1 AUTS2 UPF3B FAN1 SATB2 USP9X SETD5 MKRN3 DOCK3 PWAR1 JRK CLCN4 WAC GRIN2D ZNF292 PPP3CA ARVCF FGD1 RREB1 TRMT1 FGFR3 CSNK2A1 TMEM270 HOXA2 TRAPPC4 CDK8 SATB1 FBXW11 PAH PHF21A MADD CHRNB2 MYT1L CHRNA4 KIF11 BMPR1A PANK2 DRD5 MLH1 CHRNA7 GTF2IRD1 DEAF1 SPEN KRAS NTNG1 TRIO FLII GATA4 KCNT1 ZNF41 ZNF81 TKT CHD2 SLC12A2 KCNA2 POLA1 AGTR2 PRKCG APC2 FTSJ1 PAK3 GAS1 NAA15 NECAP1 SHMT2 ARID2 METTL27 NIPBL MAPK1 SEMA3E CELF2 CHRNA2 PPP1R12A HS2ST1 HCN1 HDAC4 PUS7 THRB TMCO1 GABRB3 RPS20 SLC2A1 IQSEC1 IFNG SLITRK1 SMARCA2 SIM1 RLIM STS YY1 IKBKG GNE ACTL6A ARV1 RFC2 MAPK8IP3 SYNGAP1 TAF1 FGF13 GALT CRKL FOXP1 GLUD1 TET3 MAGEL2 CYP27A1 OPHN1 PALS1 ABCD1 AP3B2 AP2M1 SMC1A KCNB1 ARHGEF6 CLIP2 TIMM8A ABHD11 TRAPPC14 PCGF2 DRD4 SCN8A NSD1 IGF2 MSH6 LHCGR LAT2 NBN STX1A GABRA5 TRIP12 FANCD2 SPRED1 CACNA1B MLXIPL DEPDC5 EPCAM SOX5 TSPAN7 NKAP ANKRD17 LIMK1 SETBP1 BAZ1B DHDDS DPYSL5 STEEP1 NR2F1 DDX6 UFD1 PMS1 LIG4 KDM3B IL1RAPL1 SMC3 NTNG2 FGF12 C12orf4 IGF1 PRNP DHCR7 FLI1 GTF2IRD2 GP1BB METTL5 FKBP6 GNAQ CLDN4 PIEZO2 SRPX2 NPAP1 GNB5 ANAPC1 HTT VPS37D NUS1 GABRA1 HCFC1 DALRD3 PCNT SZT2 SPG7 UBE3A TBL1X SNORD115-1 RIC1 HP_PROGRESSIVE_SPASTIC_PARAPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_SPASTIC_PARAPLEGIA KLC2 SURF1 AP4B1 NDUFA4 NDUFS1 RAB3GAP2 ARSI RTN2 MT-ATP6 MARS1 SELENOI PNPLA6 PGAP1 PET100 SLC33A1 PLP1 HACE1 KDM5C AP4S1 FARS2 TACO1 SDHA AP5Z1 LIPT1 ZFR SLC19A3 NDUFA9 NDUFA12 NDUFAF6 NDUFS2 FOXRED1 IBA57 NDUFS3 FA2H KY ATP13A2 COX15 AP4M1 AP4E1 WASHC5 FLRT1 KIDINS220 KIF1A NDUFA10 UBAP1 NDUFS4 NDUFV2 NDUFS8 CCT5 NDUFA2 NDUFAF5 NDUFA13 NDUFAF2 PDHA1 CPT1C ECHS1 NDUFV1 MTFMT NDUFS7 HP_PAIN_INSENSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAIN_INSENSITIVITY ZFHX2 DDHD1 HDAC4 MPV17 SCN9A CLTCL1 MECP2 NTRK1 NGLY1 NGF SPTLC1 GRIA3 KDM5C ATL3 ATL1 SCN11A TDP1 SPTLC2 EBF3 HP_PSEUDOBULBAR_PARALYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSEUDOBULBAR_PARALYSIS ALDH18A1 CYP27A1 SOD1 FIG4 NEFH SRPX2 RARS1 SEC31A DCTN1 ZFYVE26 TGM6 B4GALNT1 NOTCH3 LMNB1 ADGRG1 HMBS PRPH PI4KA NONO HP_CEREBRAL_BERRY_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_BERRY_ANEURYSM TGFBR3 ENG PKD1 THSD1 COL3A1 ANGPTL6 HP_NONPROGRESSIVE_ENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NONPROGRESSIVE_ENCEPHALOPATHY PNPT1 HSD17B10 UNC80 FBLN1 KYNU HP_CEREBELLAR_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBELLAR_DYSPLASIA THOC2 SRPX2 PTEN COG1 KIAA0586 RAC1 RXYLT1 POMGNT1 FKRP PI4KA POMT2 ARMC9 LAMA1 KIAA1109 ADGRG1 FKTN POMT1 GPSM2 LARGE1 CDC42 B3GALNT2 HP_GENERALIZED_HYPERREFLEXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_HYPERREFLEXIA SLC2A1 GTF2H5 TARS1 SPG7 SLC52A3 ERCC2 ABCD1 ERCC3 EEF2 MPLKIP RNF113A GTF2E2 HP_HYPOPLASIA_OF_OLFACTORY_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_OLFACTORY_TRACT CPLANE1 KIF7 FAM149B1 OFD1 TCTN3 TMEM216 PDE6D KIAA0753 SOX9 HP_CHRONIC_LYMPHOCYTIC_MENINGITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_LYMPHOCYTIC_MENINGITIS SLC35C1 RFXANK CIITA RFX5 RFXAP HP_FOCAL_WHITE_MATTER_LESIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_WHITE_MATTER_LESIONS POLG2 RRM2B PIK3C2A TREX1 TWNK TSC1 SLC25A4 ADNP ZEB2 MTOR RNASET2 POLG TSC2 PDP1 MTRFR HP_LARGE_BASAL_GANGLIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_BASAL_GANGLIA IQSEC1 ATR LMAN2L MAN1B1 CLIP1 SLC12A2 KDM5B PIGC CRBN METTL23 PRSS12 NSUN2 C12orf4 GRIK2 EDC3 PGAP1 MBOAT7 AIMP1 ST3GAL3 SLC45A1 WASHC4 LINS1 DCPS FMN2 SARS1 GRM7 UBE4A MED25 ZEB2 UFSP2 NDST1 ALKBH8 NCDN B3GALNT2 ZC3H14 TTC5 FBXO31 HNMT TNIK TECR RSRC1 MED23 TUSC3 CC2D1A TRAPPC9 TUBB3 CRADD NEMF FRRS1L EZR HP_MULTIFOCAL_CEREBRAL_WHITE_MATTER_ABNORMALITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIFOCAL_CEREBRAL_WHITE_MATTER_ABNORMALITIES RNASEH2C SLC25A15 RNASEH2B RNASEH2A PUS3 ADAR TREX1 GAA TRAPPC9 IFIH1 D2HGDH NOTCH3 SAMHD1 HP_GENERALIZED_CEREBRAL_ATROPHY_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_CEREBRAL_ATROPHY_HYPOPLASIA SCN1A TBP STX1B PLA2G6 ADGRV1 HCN1 SCN1B SCN2A SCN9A GABRD GABRG2 HP_DISTAL_PERIPHERAL_SENSORY_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_PERIPHERAL_SENSORY_NEUROPATHY MT-TW HADHB IBA57 MT-TS1 MT-TS2 MT-TQ MT-ND5 MT-CO3 MT-TL1 SPG11 GSN MT-ND6 MT-TH MT-ND4 HADHA DKK1 MT-TF MT-CO2 MT-CO1 MT-ND1 HP_INFERIOR_VERMIS_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFERIOR_VERMIS_HYPOPLASIA ASXL3 L1CAM GRM1 MDH1 INTS1 PIEZO2 BRF1 BMP4 LAMA1 HP_THICK_CORPUS_CALLOSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICK_CORPUS_CALLOSUM HERC1 VPS13B CNOT3 ODC1 PIK3R2 PRMT7 KDM3B NONO SZT2 HP_EXTRAPYRAMIDAL_MUSCULAR_RIGIDITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXTRAPYRAMIDAL_MUSCULAR_RIGIDITY MICU1 HLA-DQB1 PRNP RNASEH2C TAF1 RNASEH2B RNASEH2A ATP6AP2 ADAR TREX1 OPA3 MAPT IFIH1 SAMHD1 HP_DILATED_THIRD_VENTRICLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DILATED_THIRD_VENTRICLE USP7 CSPP1 ATP6AP2 MED25 KIDINS220 ODC1 KIAA0586 DNMT1 C2CD3 HP_HYPERACTIVE_PATELLAR_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERACTIVE_PATELLAR_REFLEX COX4I1 C19orf12 IBA57 SDHAF1 SDHA SDHB SACS HARS1 ATP13A2 PGM3 ARL6IP1 ALDH18A1 SDHD NONO HP_SOCIAL_AND_OCCUPATIONAL_DETERIORATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOCIAL_AND_OCCUPATIONAL_DETERIORATION DAOA MTHFR DRD3 RTN4R SYN2 CREBBP APOL4 HTR2A GRIN2A APOL2 MAPT EP300 COMT CHI3L1 HP_ARNOLD_CHIARI_TYPE_I_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARNOLD_CHIARI_TYPE_I_MALFORMATION SKI CWC27 HRAS NOTCH3 POLR3A FGFR2 KANSL1 DNMT3A ZEB2 NFKB2 PAX2 MAF ELN DKK1 SLC39A14 DHDDS MLXIPL CDC45 SETBP1 SMO PPP1CB NOVA2 NFIA EP300 SH2B1 CREBBP KRAS NONO HP_HYPOINTENSITY_OF_CEREBRAL_WHITE_MATTER_ON_MRI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOINTENSITY_OF_CEREBRAL_WHITE_MATTER_ON_MRI ADSL SAMHD1 TYMP TREX1 FDXR LAMA2 UBE2A ZEB2 GFM2 KARS1 PSAP ADORA2A POLG GALC HP_INFANTILE_ENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFANTILE_ENCEPHALOPATHY CCDC88A SLC19A3 GCDH ZNHIT3 STXBP1 D2HGDH TSEN54 TK2 HP_DEMYELINATING_PERIPHERAL_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEMYELINATING_PERIPHERAL_NEUROPATHY ERCC3 RRM2B DMXL2 MT-ND2 ERCC5 RNASEH2C MT-TL1 MT-ND5 ERCC6 MANBA NEFL SELENOI SOX10 GJC2 MT-ATP6 MT-TW RNASEH2B RNASEH2A HARS1 RFC1 ZFYVE26 TREX1 PLP1 MT-ND6 ERCC8 POLG AFG3L2 MPZ HK1 MT-ND3 ERCC2 SACS PMP22 BAG3 MT-ND1 DNAJC3 DEGS1 IFIH1 MT-TK SAMHD1 MT-TV MT-ND4 TYMP ACO2 ADAR NDRG1 RNF168 ERCC4 SH3TC2 HP_PERIVENTRICULAR_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIVENTRICULAR_CYSTS CPLX1 NSD2 FARSA ODC1 PDHX CTBP1 FGFRL1 OCRL LIPT2 LETM1 PDHB HP_CENTRAL_HYPOVENTILATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_HYPOVENTILATION TPM2 RET DCTN1 NDUFAF2 PHOX2B NDUFS2 MECP2 ASCL1 TPM3 HOXA1 MYPN NDUFAF3 NDUFB8 SCO2 SURF1 HP_TEMPORAL_CORTICAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TEMPORAL_CORTICAL_ATROPHY NEK1 MAPT RNU4ATAC GRN BICRA PDE6D CAMTA1 TMEM106B C9orf72 CHMP2B ABCA7 COG1 VCP GRM7 CPA6 ADARB1 PSEN1 CYB5R3 CYB5A OPHN1 TREM2 HP_PROXIMAL_AMYOTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_AMYOTROPHY SYNE2 SGCD SGCB MORC2 RYR1 DOK7 MT-TE FUS PEX6 FKRP FHL1 GFPT1 CAPN3 SYNE1 LMNA ANO5 MYOT POMT1 TNXB MYH7 DYNC1H1 FKTN TFG POMT2 NEFL SMN1 TNNT1 HNRNPDL TMEM43 TRPV4 ADSS1 STIM1 CRPPA MGME1 REEP1 DYSF EMD TCAP SH3TC2 HP_PROGRESSIVE_PERIPHERAL_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_PERIPHERAL_NEUROPATHY COA8 ARSA PSAP ABCA1 LYST HP_SENSORIMOTOR_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SENSORIMOTOR_NEUROPATHY AIFM1 MME RRM2B MRE11 MT-TS1 IARS2 PDYN SLC25A46 MT-TL1 PIGB RPIA MT-ND5 PNKP PPP2R2B KIF5A PDK3 MT-ND6 HADHA GBA2 NEFL DHH HSD17B4 SLC30A10 MT-ATP6 SPG11 ATP1A1 POLG VPS41 FDX2 COA8 MT-CO2 GALC VCP MT-ND3 PHYH SACS SETX MT-TS2 SCYL1 IFRD1 AMACR MT-ND1 PEX7 MT-TK XRCC1 DNM1L HADHB MT-ND4 IGHMBP2 MPV17 AFG3L2 SPTLC2 OPA1 LAMA2 NEFH B4GALNT1 MT-TH TFG TDP1 PLA2G6 VPS13D GJB1 ABHD12 MT-ND2 CLCF1 COA3 NGLY1 MT-CO3 MT-CO1 PEX6 MT-TW RFC1 AHCY ABCD1 RNASEH1 MT-TF MPZ B2M PIK3R5 SLC52A2 MT-TQ CLP1 PMP22 KIF1A UCHL1 DNAJC3 MT-TV TYMP PSAP HP_DISTAL_UPPER_LIMB_AMYOTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_UPPER_LIMB_AMYOTROPHY FLNC BSCL2 SLC25A21 NGLY1 MATR3 GARS1 TRPV4 SLC52A3 GJB1 PDK3 FUZ KLHL9 LDB3 HARS1 TIA1 CHCHD10 MPZ CAV3 VCP DYSF NEFL FXN RYR1 REEP1 PMP22 KANSL1 SVBP ACTA1 CEP126 SPG11 DCTN1 HINT1 GDAP1 SLC39A13 INF2 PLOD3 GIPC1 NEB CPLANE1 ALS2 COMP SQSTM1 SH3TC2 HP_PROGRESSIVE_EXTRAPYRAMIDAL_MOVEMENT_DISORDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_EXTRAPYRAMIDAL_MOVEMENT_DISORDER CLPB PLA2G6 GAMT MICU1 ZNF592 FA2H RARS1 ATP13A2 WDR73 HP_FLUCTUATIONS_IN_CONSCIOUSNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLUCTUATIONS_IN_CONSCIOUSNESS GBA MT-TS1 MT-TS2 MT-TQ MT-CO3 MT-TL1 MT-ND6 NDUFB8 SCO2 SURF1 MT-CO1 MT-ND1 MT-TW SLC25A13 SNCB MEN1 NDUFS2 MT-ND5 YY1 ALAD SNCA MT-TH MT-ND4 NDUFAF3 MT-TF MT-CO2 HP_SLOWED_SLURRED_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLOWED_SLURRED_SPEECH SPG7 MAPT PODXL DNAJC6 SYNJ1 HP_PERIVENTRICULAR_HETEROTOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIVENTRICULAR_HETEROTOPIA KAT8 NDE1 ZMIZ1 ARF1 FMR1 ANKRD11 DCHS1 VPS35L TBC1D24 ZNF292 FLNA MAP1B PDHB ZEB2 ERMARD DHCR7 TMTC3 INTS8 MAN1B1 SLC25A24 NEDD4L FAT4 KAT6B CDH2 CPLX1 ARFGEF2 C2CD3 CSGALNACT1 KATNB1 DHX16 ZSWIM6 CSF1R RTTN APC2 HP_PAROXYSMAL_DYSKINESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAROXYSMAL_DYSKINESIA KCNMA1 SLC1A3 CACNA1A ATP1A2 PRRT2 GRIN1 PDE2A PNKD SCN8A SH2B1 ATP1A3 SLC2A1 HP_MOTOR_POLYNEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTOR_POLYNEUROPATHY SLC12A6 CTDP1 NEFL AGRN REEP1 BSCL2 SCO2 SLC18A3 LYST SYNE1 ALDH18A1 PPOX SPG11 SYT2 MYO9A SELENOI HINT1 GARS1 VAMP1 PRPS1 CPOX GJC2 SNAP25 SLC25A1 CHAT ALAD SLC5A7 COL13A1 TRPV4 TFG HMBS UBA1 ARL6IP1 HP_PERIPHERAL_HYPOMYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_HYPOMYELINATION GDAP1 DHX16 KCNJ10 HK1 CTDP1 FGD4 SOX10 EGR2 FIG4 HP_FOCAL_T2_HYPERINTENSE_BASAL_GANGLIA_LESION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_T2_HYPERINTENSE_BASAL_GANGLIA_LESION NDUFS4 NDUFA12 NDUFAF6 SUCLG1 ETHE1 MT-ND3 MT-ND2 NDUFS2 FOXRED1 SURF1 NDUFS3 NDUFA4 COX15 MT-TL1 MT-ND5 NDUFS1 MT-ND1 NDUFA10 PRNP MT-TK LRPPRC NDUFV2 COQ2 TACO1 MT-TV NDUFS8 MT-ND4 NDUFA2 MT-ATP6 MT-TW NDUFAF5 NDUFA13 PET100 SPG11 NDUFAF2 PDHA1 MT-ND6 ECHS1 NDUFV1 SDHA MTFMT LIPT1 SLC19A3 NDUFS7 PDSS2 NDUFA9 HP_LOSS_OF_CONSCIOUSNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOSS_OF_CONSCIOUSNESS MTRR ABCC8 KCNQ1 TRAF3 ACADM GCDH TBK1 ADORA2A SLC19A3 NAGS NAB2 UNC93B1 STAT6 GK MT-CYB GLYCTK TLR3 HNF1A NOTCH2NLC TICAM1 KCNJ11 CPT1A UCP2 KCNE1 NOTCH3 HP_NEURONAL_LOSS_IN_THE_CEREBRAL_CORTEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEURONAL_LOSS_IN_THE_CEREBRAL_CORTEX SQSTM1 KATNB1 FUS NDE1 PC C9orf72 VCP TARDBP TBK1 CHCHD10 HP_PROGRESSIVE_SPASTIC_PARAPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_SPASTIC_PARAPARESIS ABCD1 SPG7 CPT1C TBCE FA2H GALC SELENOI HP_DIFFUSE_WHITE_MATTER_ABNORMALITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFUSE_WHITE_MATTER_ABNORMALITIES HEPACAM PNKP HTRA1 DMXL2 POMT1 PLP1 GNAO1 TIMM50 GMPPB SCN1B TRIM8 CDKL5 HERC1 PLEKHG2 CASK NDUFB8 SCO2 ARX SCN2A SURF1 POMK POMGNT1 POMT2 VPS11 NDUFS2 KCNA1 GRIN1 PIGQ PIGP NEUROD2 STXBP1 SLC25A22 NDUFAF3 GLB1 SIK1 FKRP HP_HEMIMEGALENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIMEGALENCEPHALY TSC1 SMO NPRL3 NRAS AKT3 NPRL2 HRAS DEPDC5 PIK3CA MTOR IFNG TSC2 PTEN KRAS HP_PHOTOSENSITIVE_TONIC_CLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHOTOSENSITIVE_TONIC_CLONIC_SEIZURE EFHC1 KCNQ3 GABRG2 CACNB4 STXBP1 GABRA1 SCN2A CLCN2 SCN1A JRK GABRD SLC9A6 SCN9A SCN1B CILK1 PCDH19 HP_FACIAL_PARALYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_PARALYSIS CACNA1A SCN1A PRRT2 COL4A1 CLCN7 TCIRG1 TNFSF11 ATP1A2 HP_LOWER_LIMB_AMYOTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_AMYOTROPHY KLC2 GJB1 TPM2 KRT14 MORC2 RYR1 ATAD3A KIF5A PDK3 GNE MYPN ARSI RTN2 ATXN3 MFN2 MT-TE CYP7B1 FGD4 PLP1 VWA1 SLC33A1 KDM5C FARS2 ANO5 FLNC KRT5 HK1 YY1 FBXO38 ATL1 NEFL FITM2 KY HSPB1 KIF1A FLRT1 NEXMIF UBAP1 LMNA BSCL2 BICD2 ADSS1 HINT1 INF2 PMP22 MAG KAT6A TPM3 GIPC1 NDRG1 CPT1C NEFH TFG DYSF FAM126A TCAP CUL4B SH3TC2 HP_MACROGYRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROGYRIA PSAT1 NFIX DAG1 B3GALNT2 ACTB LARGE1 PLP1 FKTN POMT2 CRPPA RXYLT1 CASK POMT1 PHGDH FKRP POMGNT1 DHCR24 POMGNT2 B4GAT1 ACTG1 COL4A1 PEX2 POMK HP_PROGRESSIVE_GAIT_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_GAIT_ATAXIA GJB1 SNRPN CACNA1A GABRG2 SCN1A PSAP PEX10 FA2H ATP13A2 STXBP1 GABRA1 SCN2A ARSA MTPAP UBE3A SCN9A MT-ATP6 SCN1B ATXN3 EEF2 ALDH18A1 SPTBN2 ATP1A2 POLG SACS TWNK PRRT2 TPP1 SETX PCDH19 ANO10 HP_ABNORMAL_PYRAMIDAL_SIGN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PYRAMIDAL_SIGN SEPSECS SLC25A15 NDUFS1 GBE1 TAF2 WASHC5 PDYN SLC12A5 ADGRG1 RTN2 PLP1 EIF2S3 KIF5A ADAR AP4E1 ATXN3 SELENOI PNPLA6 PGAP1 CCT5 DNAJC6 CCR1 GRID2 FAR1 NOP56 GCH1 CLPB AP4S1 ALS2 VPS41 SLC39A14 FARS2 SLC9A7 ATP6AP2 SPG11 PIK3CA TGFBR2 FAS NKX6-2 VCP ATXN10 FRMPD4 DARS1 PMS2 MTRFR ZFYVE26 PSAP PTCHD1 ALDH18A1 IFIH1 ZFYVE27 SAMHD1 ATXN7 ARX MLH3 MDH2 MECP2 SLC16A2 SCN1A SOX10 MSH2 SLC6A1 ATL1 PDGFRB SLC25A46 GAN ATP1A2 GPT2 CARS1 TREM2 DARS2 SEMA4A SNCA SYP TTBK2 DLG3 CYP7B1 STAT4 AP4M1 ERCC2 HSPD1 MAPT SLC2A1 ZFR MPZ CHMP2B ELOVL4 EPRS1 SYNE1 KIF1A UBTF MORC2 TSEN2 ERLIN2 ERAP1 C19orf12 UGDH CAPN1 NEXMIF REEP2 DSTYK DMD GTF2H5 SIGMAR1 LMNB1 ACSL4 ZNF711 CNKSR2 ATXN1 TBP MID2 PET117 PEX10 CWF19L1 SLC6A3 PRICKLE1 IL23R GBA2 PLA2G6 HADHA PRPS1 OPA3 MPLKIP NUBPL CNTNAP1 RAB39B COX20 BSCL2 FBXO7 CYP27A1 SAMD9L SDHAF1 GDI1 TRMT5 TTPA SACS CHP1 TREX1 KDM5C RPS6KA3 KIF1C ALG13 TANGO2 SETX SQSTM1 FAM126A RRM2B USP27X FTL NUP62 ABCB7 TSPOAP1 PRNP JAM2 TACO1 IDUA RUSC2 TARS1 DNM1L ETHE1 HTT DPYS TPP1 B4GALNT1 SPG7 TFG MED12 GJB1 IQSEC2 CLDN11 POMT1 AP4B1 HPDL IL10 GALC CYP2U1 PLAA GTF2E2 ADPRS CAMTA1 C9orf72 KCNC3 RFC1 UPF3B AIMP1 SDHB SLC2A3 GFM2 FAN1 USP9X FKRP GJC2 PANK2 PIK3R5 SLC1A3 CLCN4 TBC1D20 KY BCAP31 BRAT1 ATP13A2 TSEN15 GMPPB MTTP PMP22 SDHA FGF13 NFASC UCHL1 SPAST NDUFA13 POMGNT1 POMT2 SPG21 ATN1 SLC20A2 CTC1 TSEN34 AFG3L2 APOE SDHD NDUFS4 RORA DMXL2 FUS IREB2 BMPR1A MLH1 UBAC2 RNASEH1 RNF170 ALDH3A2 DKK1 MT-ATP6 CHCHD10 MFN2 MT-TE KRAS COA8 WWOX UBAP1 NDUFS7 MEFV ASPA KLRC4 ZNF41 RTTN C4A ARSA ZNF81 ACOX1 CHD2 PCYT2 CACNA1A AGTR2 SNX14 TARDBP L2HGDH SNORD118 MYORG SPART HADHB FTSJ1 PAK3 GM2A MAG CTSF CPT1C SHMT2 RNF113A PARS2 TH TLR4 COQ2 DNAJC3 NALCN ERLIN1 VPS13D REEP1 TTC19 CACNA1G TMEM63A GRIA3 NIPA1 OPA1 NAGA DPM3 RPS20 IBA57 ERCC3 RNASEH2B POLR3A TBK1 ATXN8OS COL4A1 NT5C2 IL12A-AS1 PRKRA VAMP1 FXN PTEN SYNGAP1 FUCA1 AAAS ATP1A3 SLC19A3 PRSS12 COQ8A TGM6 NEFL ADD3 SLC44A1 STUB1 FA2H NDUFS2 DDHD1 RNASEH2C TYROBP AP2M1 MTPAP ARHGEF6 TIMM8A SYNJ1 ABCD1 SLC1A4 MTFMT RNASEH2A CNP PPP2R2B MSH6 DDHD2 MAN2B1 HTRA1 CTDP1 PHYH TMEM106B HLA-B KCNA1 GLRX5 DEGS1 SCN1B PSEN1 EPCAM TSPAN7 NEFH KCNA4 ABHD12 VWA3B STEEP1 POLR3B PEX7 IL12A PIGT PMS1 EEF2 IL1RAPL1 VPS13C POMK TBC1D24 NDUFA4 LARGE1 SLC33A1 SOD1 DNMT1 PDGFB AIFM1 THG1L PYCR2 DLAT GRM1 PODXL BCAT2 HCFC1 TSEN54 MCOLN1 KARS1 CAV1 DDC HP_SEVERE_DEMYELINATION_OF_THE_WHITE_MATTER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_DEMYELINATION_OF_THE_WHITE_MATTER PIGG PRPS1 TRMT10A MMACHC PYCR2 PPP1R15B L2HGDH HP_TYPE_II_LISSENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_II_LISSENCEPHALY LARGE1 POMT1 POMGNT2 GMPPB LAMB1 RXYLT1 POMGNT1 FKTN FKRP CRPPA POMT2 POMK B4GAT1 TUBB3 B3GALNT2 HP_CEREBRAL_DYSMYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_DYSMYELINATION ABCD1 TARS1 HSD17B4 NDE1 SOX10 MCOLN1 PTEN ADGRG1 ERCC3 PSAP PLP1 RNF113A KATNB1 GTF2H5 PHGDH ERCC2 MPLKIP GTF2E2 HP_CHRONIC_AXONAL_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_AXONAL_NEUROPATHY SYNE1 HSPB1 SPTLC1 SETX COG8 KCNJ10 HP_SPINAL_MUSCULAR_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINAL_MUSCULAR_ATROPHY TBCE FBXO38 DNAJB2 MORC2 SMN1 ATP7A CHCHD10 KCNK9 BICD2 PLEKHG5 ASAH1 SMN2 EXOSC8 TRPV4 IGHMBP2 VAPB UBA1 TK2 VRK1 TRIP4 ASCC1 SIGMAR1 DYNC1H1 HP_ATYPICAL_ABSENCE_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATYPICAL_ABSENCE_SEIZURE CUX2 GABRG2 KCNB1 GABRB3 STXBP1 GABRA1 GRIN2A SCN2A ZEB2 DNM1 UBE3A AP2M1 SRPX2 SCN1B SCN9A PCDH19 CACNA1A PAFAH1B1 EPM2A KCNT2 FRRS1L SCN1A CHD2 NHLRC1 MAPK10 KCNMA1 CEP85L HP_PROGRESSIVE_PSYCHOMOTOR_DETERIORATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_PSYCHOMOTOR_DETERIORATION BSCL2 GLB1 SDHAF1 PMPCA ARSA KCTD7 SDHA SDHB PSAP HEXB CYP27A1 SDHD HP_DEVELOPMENTAL_STAGNATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVELOPMENTAL_STAGNATION NUP62 GABBR2 GLB1 PHGDH STXBP1 SATB1 MCOLN1 RARS1 ZNHIT3 KIF5A ACER3 ST3GAL5 PTPN23 NTNG1 CDKL5 MECP2 SCN1B VPS11 ACAN POLR2A SMC1A HP_LIMB_FASCICULATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_FASCICULATIONS HINT1 SMN1 VCP TFG HSPB1 SMN2 HP_POSTERIOR_FOSSA_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_FOSSA_CYST POMT2 FKTN VSX1 POMT1 FGFR2 PUF60 GDF6 ABAT LARGE1 FKRP WASHC5 DPH1 CSPP1 HP_OROMOTOR_APRAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OROMOTOR_APRAXIA DLL1 GLI2 NODAL FOXH1 STAG2 SHH TUBB2B TDGF1 CDON SMC1A PTCH1 ZIC2 FOXP2 GAS1 FGF8 PI4KA SIX3 ADGRG1 TGIF1 SRPX2 DISP1 DDOST FGFR1 FOXP1 VPS11 HP_CNS_DEMYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CNS_DEMYELINATION HLA-DRB1 ADAT3 CSF1R GALC HTRA1 ACOX1 PDCD1 EIF2B2 ATXN2 GFAP ERCC6 PDYN EIF2B1 INSR LRPPRC ERCC8 ASPA PRPS1 ALDH3A2 TREM2 PSAP ERCC1 SUMF1 MTTP L2HGDH EIF2B5 MMACHC PPP1R15B PRF1 RERE EIF2B3 PIGG TRMT10A EIF2B4 ABCD1 CYP27A1 HLA-DQB1 TREX1 PEX19 PYCR2 MAT1A HP_EXTRAPYRAMIDAL_DYSKINESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXTRAPYRAMIDAL_DYSKINESIA SLC2A1 ACAT1 TSEN54 C9orf72 TSEN2 DPYS HP_SHORT_STEPPED_SHUFFLING_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_STEPPED_SHUFFLING_GAIT MAPT GLUD2 ATXN8OS PRKAR1B TBP TRPV4 DNAJC6 DCTN1 NR4A2 ADH1C COL2A1 PODXL SNCAIP GBA SYNJ1 ATXN2 HP_GENERALIZED_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_DYSTONIA ACTB FA2H THAP1 PANK2 HPCA VPS41 GCH1 MRPS25 TH TUBB4A TSPOAP1 SUOX JAM2 TIMM8A LRPPRC HP_MIXED_DEMYELINATING_AND_AXONAL_POLYNEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIXED_DEMYELINATING_AND_AXONAL_POLYNEUROPATHY MT-TW NEFL MT-TS1 MT-TS2 MT-TQ MT-ND5 MORC2 MT-CO3 MT-TL1 ATP7B MT-ND6 MT-TH MT-ND4 MT-TF MT-CO2 MT-CO1 MT-ND1 HP_IMPAIRED_PAIN_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_PAIN_SENSATION AIFM1 ATXN1 IGF2 DDHD1 SCN9A ABCA1 CLTCL1 LIFR NTRK1 NGLY1 GRIA3 HERC2 CDKL5 RAI1 PRPS1 ATL1 DEAF1 SHANK3 EBF3 NDN MFN2 GABBR2 FLII STXBP1 MADD PWRN1 MECP2 H19 HARS1 NGF NTNG1 KDM5C ATL3 SCN11A MKRN3 PWAR1 LMX1B MPZ HNRNPK HK1 VCP NEFL HSPB1 ELP1 PMP22 ZEB2 NPAP1 UBTF SPTLC2 ZFHX2 CCT5 HDAC4 MPV17 FBN1 SNRPN SORD SPTLC1 CHAMP1 MAGEL2 SNORD116-1 KCNQ1OT1 GJB1 IQSEC2 TDP1 SNORD115-1 SMC1A SH3TC2 HP_HYPOPLASIA_OF_THE_FRONTAL_LOBES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_FRONTAL_LOBES METTL5 BRAF STIL CEP135 PYCR2 FDXR FIG4 SLC35C1 CIT CEP152 DHCR7 KNL1 ARHGEF9 DPM1 SASS6 RNU4ATAC NCAPD3 TRAPPC14 TAF13 COPB2 ANKLE2 ASPM VAC14 KIF14 MCPH1 MFSD2A CEP63 CDK5RAP2 WDR62 RTTN PHC1 CENPJ CDK6 HP_BILATERAL_TONIC_CLONIC_SEIZURE_WITH_FOCAL_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_TONIC_CLONIC_SEIZURE_WITH_FOCAL_ONSET KCNB1 KCNQ3 GRIN2A NHLRC1 SLC12A5 PUS3 LGI1 SCN8A KCTD7 SRPX2 PSAP PRRT2 GABRG2 COQ2 EPM2A SCN2A KCNMA1 KCNQ2 SLC22A5 MICAL1 KCNJ11 RELN DEPDC5 GAL CEP85L PDSS2 HP_HYPERMETRIC_SACCADES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERMETRIC_SACCADES TMEM240 GDAP2 VPS41 GRM1 VPS13D XRCC1 ANO10 ATXN1 TPP1 HP_LOWER_LIMB_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_MUSCLE_WEAKNESS SARDH TPM2 ABCD1 DDHD1 WASHC5 PRNP FLI1 PNKP CAPN3 GNE SLC18A3 L1CAM RTN2 MYH14 PLP1 GARS1 KIF5A CHCHD10 GBA2 PDK3 TFG HADHA SPAST ADAR MT-ATP6 DGUOK NEFL PNPLA6 KCNJ18 MFN2 FGD4 SMARCB1 ASAH1 SNAP25 CAPN1 HARS1 CHAT MME SPG11 MTHFR TTN ANO5 AP5Z1 MYH7 AKT1 DDHD2 VCP FBXO38 ERLIN2 IBA57 BAP1 KIF1A AGRN ZFYVE26 NUP62 DES UBAP1 LMNA ZFYVE27 PIK3CA NF2 SMARCE1 MYO9A ADSS1 MTRFR KCNJ10 SPART HADHB GMPPB RASA1 GIPC1 NDRG1 CPT1C PIEZO2 VHL NEFH ATL1 SPG7 TDP1 NIPA1 SMO TCAP DYSF TPM3 REEP1 FLNC BSCL2 GABRA3 PDGFB TERT MAPT MORC2 GALC SCO2 GJB1 ALDH18A1 MYPN SCYL1 ERGIC1 CYP7B1 HSPB1 VAMP1 NF1 VWA1 SLC33A1 COL13A1 HSPD1 AFG3L2 PLEC HSPB3 EXTL3 MPZ TRAF7 HK1 CACNA1S MTTP PMP22 SYNE1 HSPB8 SYT2 DCTN1 SUFU HINT1 SORD DSTYK SPG21 SLC25A1 FHL1 SLC5A7 CAV1 TRPV4 FAM126A HP_ABNORMAL_MORPHOLOGY_OF_THE_LIMBIC_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MORPHOLOGY_OF_THE_LIMBIC_SYSTEM NEK1 RNU4ATAC GABRG2 SCN1A RAD51 STXBP1 BICRA TBC1D24 EEF1A2 NR2F1 SCN2A MBD5 FGFR2 KIF1A SLC35A2 DCC VPS51 NTN1 SCN1B GRIN2B CPLX1 CAMTA1 CHAMP1 EPB41L1 ABCA7 DEAF1 DPYSL5 GRM7 BRSK2 GRIN1 CLTC CPA6 SET KCNQ5 NBEA HIVEP2 CAMK2B PCDH19 SETD1B TCF4 KDM5B KDM4B DNAL4 MED12L CUX1 CIC GABRA1 ZEB2 OSTM1 DOCK8 CDH15 CACNG2 SCN9A TAOK1 KIRREL3 PPP3CA VPS13A NDE1 CARS2 ASH1L SYNGAP1 RAB11A CSNK2B ZMYND11 TUBB3 TRPM3 DYNC1H1 DLL1 MYT1L CAMK2A HP_ATROPHY_DEGENERATION_INVOLVING_THE_SPINAL_CORD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATROPHY_DEGENERATION_INVOLVING_THE_SPINAL_CORD ABCD1 LMNB1 CYP7B1 CCT5 NEFL FXN FA2H MMACHC PNPLA6 MORC2 POLG SPG11 TWNK MTHFR LYST SPG7 DNAJC3 ALDH18A1 HP_HYPERREFLEXIA_IN_UPPER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERREFLEXIA_IN_UPPER_LIMBS ERLIN2 CAPN1 SDHAF1 SPG11 FTL FAR1 SDHA SDHB VPS37A ATP13A2 KIF5A ALDH18A1 UBAP1 REEP1 HSPD1 SPAST RTN2 SDHD HP_UPPER_LIMB_POSTURAL_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_LIMB_POSTURAL_TREMOR LMNB1 COL6A3 PMP22 CACNA1G TUBB4A ITPR1 CARS2 MPZ ANO3 HP_CEREBELLAR_CALCIFICATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBELLAR_CALCIFICATIONS ERCC6 ERCC8 TREX1 JAM2 PDGFRB SLC20A2 PDGFB HP_AMYOTROPHIC_LATERAL_SCLEROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMYOTROPHIC_LATERAL_SCLEROSIS HNRNPA1 DCTN1 PON2 NEFH CCNF ERBB4 ANG PPARGC1A MATR3 PON1 VCP TAF15 SQSTM1 SOD1 CHMP2B FUS CFAP410 SIGMAR1 FIG4 ALS2 GLE1 VAPB ATXN2 PON3 C9orf72 GLT8D1 OPTN EPHA4 CYLD CHCHD10 TARDBP SETX PSEN1 TREM2 UBQLN2 UNC13A SPG11 DAO PFN1 TRPM7 TIA1 ANXA11 TUBA4A PRPH TBK1 NEK1 HNRNPA2B1 MAPT KIF5A HP_FOCAL_ONSET_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_ONSET_SEIZURE YEATS2 CNTNAP2 PCDH19 SATB1 GNB2 SLC12A5 SCN9A DNM1L PTPN23 SRPX2 GRIN2A MT-ND6 NSUN2 GRIK2 SCN1A AIMP1 CRIPT WASHC4 SARS1 NBEA HIVEP2 SPTBN1 GRM7 KDM5B NPRL3 ARF1 UBE4A CYP26C1 MT-TS2 ATXN10 STXBP1 PUS3 MAP1B SCN8A GABRG2 ZEB2 UFSP2 NDST1 CDH15 ARHGEF9 PIK3CA SCN2A KCNMA1 CTNND2 CARS2 KCNA1 MICAL1 SIK1 CSNK2B SLC6A1 PIGP ZMYND11 TRAPPC9 TUBB3 FIG4 TRPM3 CACNA1A NF1 PDGFB NGLY1 ATP1A2 CRBN CDKL5 BAP1 TMTC3 SMS CASK TSC1 PNPLA8 TSC2 PRRT2 DOCK7 CPA6 MTOR CABP4 CACNA1D PLPBP FMN2 KCNB1 CUX1 FA2H TRAF3 FLNA DNM1 AP2M1 SLC25A10 B3GALNT2 NEDD4L CDH2 MT-TW TREX1 KCNQ3 NEXMIF SYN1 KCNJ11 CHD2 DLL1 FRRS1L CEP85L SLC13A5 DMXL2 PURA TUBB2B MBD5 LGI1 TRIM8 CDC40 PDE2A PGAP1 DYNC1H1 SDHAF1 TLR3 CRH EPB41L1 GRIA2 DEAF1 BRSK2 DEPDC5 COL4A2 LINS1 TANGO2 CAMK2B PNKP GLI3 SEC31A DPAGT1 SETD2 TAOK1 UNC93B1 KIRREL3 HNMT STX1B ARFGEF2 ASH1L SYNGAP1 EPM2A RAB11A KANSL1 NHLRC1 NUS1 SMO DCX TBC1D24 CLN5 EEF1A2 SLC12A2 KIF1A GRIN2B TBCK LAMA2 CAMTA1 SLC45A1 DPYSL5 SDHB GRIN1 GAL MT-TF NARS1 EXTL3 SLC1A3 MARCHF6 ARX CLN8 BRAT1 MT-TQ SDHA FGF13 PSAP NCDN POLG COPB1 ERMARD CC2D1A PLCB1 CRADD CAMK2A BTD CHRNB2 SDHD CUX2 RPL10 CHRNA4 MT-TS1 FAR1 GABRA1 C12orf4 RARS1 KCNT1 PIGQ MTHFR CLTC KCNQ5 VPS11 AKT1 ADGRV1 MED25 SCN1B PCYT2 APC2 GABRD ZC3H14 WARS2 KCNQ2 TECR MED23 RELN MAPK10 MT-TH MYT1L ATP6V1B2 PDSS2 IQSEC1 CHRNA2 LMAN2L CLIP1 GNAO1 KCTD7 TBK1 METTL23 PRSS12 MT-CO1 VAMP2 ST3GAL3 PIGS GAMT DCPS POLR3A EN1 SETD1B TRAF7 AFF3 DPYD SAMD12 ATP1A3 SZT2 SUFU TTC5 FBXO31 FOXG1 RSRC1 NPRL2 ALDH7A1 SLC12A3 TGFB1 MT-ND4 POGZ SLC25A22 EZR OPHN1 MAN1B1 CLCNKB MT-TL1 AP3D1 COQ2 EDC3 SMARCB1 CHAMP1 TICAM1 NSD1 GNB1 TMEM231 NEUROD2 GABRA5 ADGRG1 MT-CO2 ADRA2B CIC ALKBH8 CACNG2 SMARCAL1 NF2 PAFAH1B1 SMARCE1 MT-ND1 SLC2A1 CNTN2 TNIK ACO2 SMC1A AKT3 MT-ND5 PYCR2 GABRB3 TERT MT-CO3 PIGC CLCN4 PACS1 PI4KA MBOAT7 CPLX1 GALNT2 EXOC7 HCN1 HACE1 SET TCF4 PPIL1 MED12L VPS35L DOCK8 PPP3CA PHGDH ACSF3 STRADA SLC22A5 TUSC3 AP4S1 NEMF HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLUM ERCC2 ATR LARGE1 SEPSECS MRE11 EXOSC1 KIAA0586 HDAC8 PIGA BUB1B SIX3 ARNT2 ERF CEP290 PDHB ADGRG1 NDE1 INTS1 FGFR1 VPS51 RAB3GAP1 KRAS GJB6 TUBGCP6 ADGRV1 MAN1B1 SASS6 PGAP1 SLC9A6 RPE65 NDP MT-TK TCTN3 TMEM107 RERE RTEL1 MBTPS2 C2CD3 NUP37 CTNNA2 GPX4 TERT CEP41 ZIC2 RHOBTB2 USH2A IER3IP1 DAG1 CENPF ITPR1 TCTN1 MSTO1 MAST1 RPGRIP1L ZEB2 GJB2 ASPM IFT140 VLDLR ARL13B AIPL1 TMEM237 TMEM67 ERCC1 INPP5E JAM3 GPC4 TUBB3 DYNC2H1 ZNF423 CBY1 ARL3 KATNIP OTUD5 PROKR2 PIGN FIG4 CTBP1 COG1 MKS1 NPHP1 SLC35A2 MT-TL1 TUBB SHH IQCB1 DMXL2 PDZD7 BRF1 PLP1 PPP1CB VAC14 GPC3 RDH12 POMGNT1 PSAT1 AHCY EHMT1 MAPK8IP3 RELN AFG3L2 FKRP POMGNT2 FOXC1 DPM2 CACNA1G NPHP3 ATP6V0A2 GMPPB ATXN2 B9D1 ASXL1 CEP120 SMARCC2 MT-TE ZBTB11 FAR1 RARS2 MYOD1 TSEN2 TP53RK CARS2 KIF7 DPH1 TSEN54 DISP1 CEP55 SOX3 ZIC1 ATP6V1A CEP104 FGF8 DISC1 CHD7 PRRX1 TXNDC15 LCA5 EVC2 B4GAT1 RAD21 ARID2 SPECC1L PPP1R21 SIL1 NMNAT1 CWF19L1 BUB1 AHI1 TMEM138 L2HGDH GPHN LRRC32 MEF2C DCHS1 COASY MACF1 POMT1 CDC40 PLG DYNC1H1 TCTN2 WDR35 GPAA1 PMPCA POMT2 WDR81 CPLX1 KIAA1109 SLC25A1 POMK EOMES ARID1B DENND5A ASNS CSF1R COL4A1 B3GALNT2 RAB18 PACS1 SACS VPS13B GLI3 TSEN34 SRPX2 NONO B9D2 CRPPA NEK1 CDKN1C AP1S2 SOX2 DPAGT1 HERC1 PPP2R1A TINF2 DHCR7 PARN SETD2 TULP1 MAP2K2 CASK STIL BRD4 CCDC22 GOT2 PI4KA ATG7 HHAT PIBF1 EVC VRK1 GLI2 PIEZO2 HNRNPH2 ATN1 PMM2 TBC1D24 CC2D2A TMEM216 MDH1 NRAS B4GALT1 MYMK PIGU MICOS13 RPL10 PHGDH KCNQ1 ELN CRX SMG9 GPKOW CPLANE1 YME1L1 CAMTA1 SMARCA4 FKTN DPYSL5 RBM10 GFM2 MTHFR ERMARD USP9X MAB21L1 ALX4 ATP6V1E1 SUFU RAPSN CSPP1 WAC ZNF292 TSEN15 USP18 LETM1 KIDINS220 TOE1 INTS8 KIAA0753 ARMC9 PDE6D INPP5K LAMA1 RPS6KA3 WASHC5 RXYLT1 SMARCB1 MPL SOX11 KMT2C NSD2 RORA SMPD4 WDR73 BUB3 SLC25A46 FLVCR2 LAMB1 TMEM231 POLR3A EBP USP45 STAT2 ACD SLC25A24 MVK PIK3CA OFD1 FANCB CCDC32 RAB3GAP2 NUP88 GDF6 OCLN HYLS1 PIGG FGFR3 TRMT10A KCNQ1OT1 RTTN APC2 DYNC2I1 BCOR L1CAM PTF1A STAG2 BMP4 NELFA TBCK SPATA7 IFT80 ATAD3A FGFR2 RAC1 TBC1D20 LRAT SNX14 TERC MYO7A LMNB1 DYNC2I2 VANGL2 COQ4 IMPDH1 WARS2 CDK5 NDUFA6 DPF2 FTO TMCO1 NIPBL NFIX CIT ACY1 SEMA3E MGME1 GJA1 KIF14 TRAPPC9 ATP6V1B2 MUSK FLNA WDR26 CDC42 CHMP1A ROGDI GRIA3 TWIST1 ABAT VPS4A EPG5 FRMD4A SON MFSD2A USH1C NAGA TUBGCP4 ATP2B3 DOCK6 ERCC6 PCLO PPP1R15B CRB1 GPSM2 TOGARAM1 HRAS TFAP2A EN1 SRD5A3 HDAC6 WNT1 ATCAY AFF3 ZNF592 SLC25A19 PTEN FAM149B1 IGF2 TAF1 RD3 POLA1 SMARCD1 ALG3 TKFC RBM8A WHRN OPHN1 ARID1A STUB1 PCYT1A RAB11B SOX4 MARS2 SEMA6B DHX37 KCNJ13 NODAL SAMD9L SLC18A3 PAFAH1B1 MYO5A ROBO3 ARSI EXOSC8 NID1 DKC1 PCGF2 ESPN ATG5 CPT2 DOK7 CDH23 NSD1 PCDH15 SMARCE1 RPGRIP1 COL3A1 HESX1 THOC2 NCAPG2 MINPP1 IFT172 ASXL3 MLXIPL EXOC2 RBBP8 ALG6 TRRAP FDXR SLC1A3 OTX2 PIGT RNU4ATAC EBF3 CENPE ATP5F1A CEP57 SMC3 TUBA1A EXOC7 PTRH2 TAPT1 SMC1A ALG12 BICD2 PPIL1 ERCC5 VPS35L THG1L CIB2 GRM1 TRIP13 PRKDC PLK4 DHFR OXR1 TUBB2B USH1G CEP164 RNF113A GUCY2D FAT4 HP_ABNORMAL_PONS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PONS_MORPHOLOGY LARGE1 SEPSECS RORA CCDC88C EXOSC1 RERE GAS1 PIGA POMT2 TUBB2B SLC25A46 CEP290 ADGRG1 FLI1 ARL3 GPHN TGIF1 ROBO3 DPM1 VPS51 CSPP1 DOCK7 ZIC1 DAG1 DCC TSEN54 ASNS RTTN ZIC2 GLI2 B3GALNT2 APC2 SACS PTCH1 SHH MINPP1 SIX3 PPP2R1A SNX14 FKRP GMPPB LAMA1 TMEM67 DLL1 ATXN8OS VRK1 TRAPPC12 MDH1 POMT1 INPP5E FOXH1 GALC NPHP1 VPS4A AHI1 TDGF1 LAMA2 FA2H NODAL POMK TOE1 BRF1 PIGS PCLO POMGNT1 CASK MAB21L1 AHCY RELN STUB1 SETX SMARCA2 PPIL1 WNT1 ARHGEF2 TMEM216 PMM2 KIAA0586 ATXN2 TSEN15 PTEN CDON TSEN2 ALG3 FGF8 UBE2A TSEN34 DISP1 POGZ EPG5 SLC5A6 HP_ATROPHY_DEGENERATION_AFFECTING_THE_BRAINSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATROPHY_DEGENERATION_AFFECTING_THE_BRAINSTEM FA2H TBP CACNA1G SYNE1 RARS2 SLC35A2 DNAJC3 DEGS1 DNAJC19 TRAPPC6B DNM1L COG8 ATXN1 TBCD ZNHIT3 LMNB1 FARS2 TWNK KIF1A COG5 GFM2 OPA1 SPTAN1 DNMT1 TRRAP HP_ATROPHY_DEGENERATION_AFFECTING_THE_CENTRAL_NERVOUS_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATROPHY_DEGENERATION_AFFECTING_THE_CENTRAL_NERVOUS_SYSTEM ERCC2 RNU4ATAC PSEN1 SLC25A15 CCDC32 TOMM40 SATB1 PIGA CCDC47 PPARGC1A CIZ1 DCTN1 PDYN CACNA1A TAF15 VPS16 MT-ND6 DPM1 RNASEH2A ALG13 NSUN2 TUBGCP6 ATXN3 MUC1 ADGRV1 MMADHC TMEM106B PNPLA6 GRIK2 SLC9A6 RAB23 ABHD5 AIMP1 CCT5 NDP DNAJC6 RTEL1 WDFY3 MBTPS2 TK2 TRAPPC4 WASHC4 SPTAN1 ERCC8 SLC39A14 TERT CDK19 RHOBTB2 SLC13A5 BRAF SPG11 KDM5B CACNA1B NAA10 UBE4A AIMP2 SPEN VCP MT-TS2 QARS1 PUS3 KRAS MRM2 GABRG2 AGA CEP126 MATR3 IFIH1 SAMHD1 TBK1 TECPR2 SC5D TREX1 RBM28 CNKSR2 LIAS EMX2 CARS2 KCNA1 ANXA11 KCNMA1 KATNB1 BCS1L GABRB2 TRPM3 ATL1 TDP1 MAP2K2 LIPT2 NTRK2 TWNK SNRPN NGLY1 TRAK1 HUWE1 ABCA7 TBP PIGN FIG4 APOE PRKCZ CDKL5 DOLK TREM2 OTUD6B SLC1A2 ALDH18A1 SUCLG1 FUS DMPK NDUFA8 VPS41 NANS VAC14 DOCK7 CPA6 PEX7 MAPK8IP3 PQBP1 SIK1 CHMP2B UBQLN2 COG4 TFG GLB1 OSGEP NCF1 CUX1 FA2H ERCC4 ATRX PCCA GRIN2D TCTN3 WASHC5 RARS2 NDUFV2 B3GALNT2 RNASEH2B MT-TW CLP1 SETBP1 ATP6V1A COG5 EIF2AK2 BCL7B MTRR PLA2G6 LMNB1 UBA5 JARID2 NEUROD2 TBL1XR1 DMXL2 DNM1 BICRA NEFH NTNG2 SCYL2 ACER3 SLC35C1 MBD5 PPP2R2B ZMIZ1 POLG2 ATP6AP2 COG2 COG1 PGAP1 MPLKIP FBXL4 CYP27A1 PRNP ATXN8OS FUCA1 WDR81 EPB41L1 TRMT5 DEAF1 ELN MAGEL2 SCN1A SERAC1 TANGO2 CYLD EIF4H PANK2 RAB18 GALC UNC13A GLUL HRAS SACS ZNF335 PCK1 SLC33A1 PFN1 KIDINS220 NEFL WFS1 APP TIA1 COQ9 FTL SERPINI1 SVBP AP1S2 CYFIP2 NUP62 HNRNPA1 TANC2 LYST CNTNAP1 PARN DNM1L MED27 TAOK1 GMPPB WDR45 GRIN2A BRD4 TARS1 AARS1 BUD23 HNMT NKX6-2 GOT2 GRN SCN3A SYNGAP1 HTT PNPO COX8A OSTM1 ATG7 DGUOK OPA1 CISD2 VRK1 NHLRC1 CPLANE1 B4GALNT1 NECAP1 CLDN3 SLC39A8 ATN1 SMN1 EEF1A2 GNAO1 PON2 HIVEP2 PSAP TIMM50 SLC12A2 STXBP1 HSPG2 TBCD EXOSC3 LARGE1 KIF7 EHMT1 WWOX SMG9 ALS2 ADPRS MAP2K1 CAMTA1 C9orf72 TXN2 CLPB ERBB4 STAG1 PEX16 DOCK3 MT-TF NDN PPP3CA ADAT3 SOD1 GLE1 CLN8 ANG ATP13A2 AP4M1 TOE1 FGF13 TRAPPC2L LRRK2 NCDN SPAST SCN9A GBA2 PDE6D TMEM270 NDUFV1 EXOC8 CRADD PDPN SUCLA2 NMNAT1 PTCD3 TRAPPC11 MAPT REPS1 PCNA ACD MT-ATP6 RTN2 FADD RAB3GAP2 SIGMAR1 GRM7 PIGQ ADH1C CLTC NFIX EMC1 RTTN CLCN4 IDS ADSL NUP214 IBA57 STX1B TARDBP GLYCTK ACTB VAPB EIF4G1 CPLX1 TBCK TPRKB PCYT2 BMP4 TSEN2 MARS2 L2HGDH GABRD ZC3H14 MGAT2 GM2A CTSF SCO1 MYO7A MED23 RNF113A FASTKD2 METTL27 PIGL CYB5R3 AUH TRAPPC9 CELF2 NOTCH3 GBA WDR73 TTC19 FARSB CLIP1 HECW2 CACNA1G ACY1 HS2ST1 KCTD7 HCN1 ROGDI ZC4H2 METTL23 PHACTR1 TPI1 VPS4A ZBTB20 PUS7 PRSS12 TRAPPC6B C19orf12 SON ACTL6B MT-CO1 IGHMBP2 TUBGCP4 POLG MPDU1 NACC1 MVK DOCK6 ERCC6 PIGS ERCC3 SLC39A4 XPA MAG POLR3A LUZP1 SETD1B RLIM IKBKG FKRP OCA2 ZNF592 DPYD ACTL6A DNAJC13 ARV1 RFC2 ALG1 GABRA1 TUBA4A XPC FOXP2 B3GLCT CYB5A KCNA2 DDB2 ALG9 RSRC1 ALG3 NEK1 MFSD8 ALDH7A1 PDE8B TGFB1 SLC25A22 AARS2 COG7 NDUFS2 MAN1B1 RNASEH2C MT-TL1 NODAL PRUNE1 FMR1 KCNB1 CLIP2 SNCAIP AP3D1 COG8 SCN2A ABHD11 EPM2A POGZ ABCD1 EDC3 DKC1 ALG8 GJC2 MMACHC CDH23 PIGT NSD1 UQCRC1 DARS2 PCDH15 CAD GABRA5 BCAP31 MT-CO2 VARS1 UFM1 CTDP1 STX1A CIC TRIP12 PAFAH1B1 MOCS2 GRIA4 CLN6 COQ2 SLC35A2 CACNG2 SCO2 ACO2 SLC2A1 WARS2 KIF1C NIPA1 PYCR2 OPTN SBF1 NDUFAF5 DHDDS DPYSL5 MT-CO3 POLR3B SCN8A HACE1 DDX6 VPS33A MED13 ATXN1 WIPI2 VPS13C ATXN2 MAF YWHAG MBOAT7 STAMBP SMC3 KIF1A FGF12 TBC1D24 KCNQ2 RALGAPA1 GLT8D1 NAGA PCCB SMC1A GTF2IRD2 STUB1 PEX19 DNMT1 TCF4 POMT1 DYRK1A MED12L RNF125 GNAQ CTSD DLAT DOCK8 PRPH IDUA DNAJC3 VPS37D NUS1 PODXL NDUFB8 PRKDC JPH3 SURF1 AP3B2 RAB3GAP1 DHFR NARS1 SZT2 SCN1B USH1G RMND1 DYNC1H1 SNX14 SPG7 RFT1 NEMF KIF5A KMT2E EXOSC1 NDUFS1 GTF2I HDAC8 ZNHIT3 IARS2 SLC12A5 PLP1 PDHA1 ADAR AP4E1 MMP23B SQSTM1 SYNJ1 FAR1 AP4S1 SARS1 NDUFA2 SPTBN1 USH2A DHX30 CTNS MAN2B1 NAXE UFSP2 NDST1 CDH15 SUMF1 ADK ERCC1 CSNK2B PIGP TBL2 ZMYND11 TRAPPC12 GIGYF2 FOLR1 CWC27 CLN5 GABRA2 OTUD5 PDHX CACNA1E RNF216 GUSB CRBN BPTF CARS1 RERE PTPN23 CASK UBR7 NPC1 CYP7B1 COX16 PDZD7 ADNP PLPBP GLUD2 EPRS1 HPDL SYNE1 DNAJC30 UBTF MORC2 TP53RK BCORL1 FH KDM4B TPP1 NRROS PSMD12 MECP2 VPS13A NARS2 GTF2H5 AGO2 HIC1 DLL1 FRRS1L DYNC1I2 FGFR1 RAD21 PURA SPECC1L TMEM70 TRIM8 YIF1B GPHN MEF2C ERCC5 WASF1 BSCL2 POMT2 GRIA2 NOVA2 TRAF7 BRSK2 LINS1 CSF1R KMT2D CAMK2B HEPACAM PNKP PRKAR1B TRPM7 ATAD1 SHPK DPAGT1 HERC1 SETD2 UBE4B PARS2 KIRREL3 UBA1 ASH1L CNOT3 RAB11A FRMPD4 TCF20 PPT1 MOGS ABCD4 KAT8 AP4B1 GCDH PIGU NALCN UBE3A NBN GRIN2B PLAA GTF2E2 GPKOW YME1L1 SLC45A1 DNAJC5 PON3 PSEN2 PUF60 SLC2A3 GFM2 GRIN1 USP9X VPS35 SETX IRF2BPL KDM6A ARX TBC1D20 PMPCA BRAT1 MT-TQ UCHL1 SMN2 COPB1 TINF2 PRDX1 SPG21 TRMT1 RPS6KA3 PSPH TMX2 CC2D1A FBXW11 CAMK2A MADD GAD1 MYT1L CCNF NDUFA9 MT-TS1 EXOSC9 SIX3 GTF2IRD1 ASAH1 C12orf4 CHCHD10 TYROBP NTNG1 SHH CFAP410 FARS2 HNF1B RARS1 MTHFR PIGG NUTM2B-AS1 KCNQ5 PIGV NBEA ALG14 GRID2 MED25 TRNT1 UBAP1 DNAJC19 ADARB1 ACTG1 PGAP2 APC2 POLR3K KANK1 TECR TMCO1 NIPBL CPT1C LYRM7 MT-TH IQSEC1 NDUFA11 LMAN2L GUF1 NHLRC2 CDC42 PON1 ITPA USH1C ST3GAL3 YWHAE PCLO COL18A1 DCPS NDUFAF3 AFF3 COG6 FXN LONP1 MOCS1 POLA1 TTC5 FBXO31 ELOVL4 MT-ND4 WHRN EZR OPHN1 SLC5A6 SNCA PALS1 HSD17B10 TAF2 AMPD2 MED17 BTD PITRM1 MYO5A NAXD NADK2 TIMM8A EXOSC8 ESPN SLC1A4 SLC17A5 UNC80 CHAMP1 TSEN54 CLN3 FMN2 LAT2 SORL1 KCNAB2 PRKN ATXN7 DSE ALKBH8 DEGS1 MT-ND1 NEXMIF TNIK MT-ND5 HTRA2 HNRNPA2B1 ALG11 LIMK1 SKI TRRAP BAZ1B HSD17B4 FDXR ST3GAL5 PIGC UGP2 NR4A2 SLC16A2 ASPA COASY ATP8A2 KCNT1 CASZ1 PRDM16 LHX1 EXOC7 VPS53 SET FLI1 EPHA4 PLK4 PCDH19 BICD2 DAO NDE1 AIFM1 CIB2 TRIT1 FKBP6 CLDN4 OCLN FGFR3 GDAP2 MLXIPL FBLN1 SPATA5 DALRD3 COX4I1 TNRC6B GFM1 COLGALT1 SEPSECS TUSC3 SMG8 LAGE3 EPG5 MTR LRP12 TSEN15 HP_ATROPHY_DEGENERATION_AFFECTING_THE_CEREBRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATROPHY_DEGENERATION_AFFECTING_THE_CEREBRUM ERCC2 RNU4ATAC PSEN1 SLC25A15 CCDC32 TOMM40 PIGA CCDC47 CIZ1 CACNA1A VPS16 MT-ND6 DPM1 RNASEH2A NSUN2 TUBGCP6 MUC1 ADGRV1 MMADHC GRIK2 SLC9A6 RAB23 AIMP1 NDP RTEL1 WDFY3 MBTPS2 TK2 WASHC4 SPTAN1 SLC39A14 TERT CDK19 RHOBTB2 SLC13A5 BRAF KDM5B CACNA1B NAA10 UBE4A AIMP2 SPEN MT-TS2 QARS1 PUS3 KRAS MRM2 GABRG2 AGA TECPR2 SC5D CNKSR2 LIAS EMX2 CARS2 KCNA1 KCNMA1 KATNB1 BCS1L GABRB2 TRPM3 MAP2K2 LIPT2 NTRK2 VCP SNRPN NGLY1 TRAK1 HUWE1 ABCA7 TBP PIGN PRKCZ CDKL5 DOLK TREM2 OTUD6B SLC1A2 SUCLG1 DMPK NDUFA8 VPS41 NANS DOCK7 CPA6 PEX7 MAPK8IP3 PQBP1 SIK1 CHMP2B COG4 GLB1 OSGEP NCF1 CUX1 ERCC4 TMEM106B ATRX PCCA GRIN2D TCTN3 RARS2 B3GALNT2 RNASEH2B MT-TW CLP1 SETBP1 ATP6V1A COG5 EIF2AK2 TBK1 BCL7B MTRR PLA2G6 LMNB1 UBA5 JARID2 NEUROD2 DMXL2 DNM1 BICRA SCYL2 ACER3 SLC35C1 MBD5 PPP2R2B ZMIZ1 POLG2 ATP6AP2 COG2 COG1 PGAP1 MPLKIP FBXL4 CYP27A1 PRNP FUCA1 EPB41L1 DEAF1 ELN MAGEL2 EIF4H PANK2 RAB18 GALC HRAS SACS ZNF335 PCK1 SLC33A1 KIDINS220 WFS1 APP COQ9 SERPINI1 SVBP AP1S2 CYFIP2 NUP62 TANC2 CNTNAP1 PARN DNM1L MED27 TAOK1 GMPPB WDR45 GRIN2A BRD4 TARS1 AARS1 BUD23 HNMT NKX6-2 GOT2 TWNK SCN3A SYNGAP1 HTT OSTM1 ATG7 DGUOK OPA1 CISD2 B4GALNT1 CLDN3 SLC39A8 ATN1 EEF1A2 GNAO1 HIVEP2 TIMM50 SLC12A2 STXBP1 HSPG2 TBCD EXOSC3 LARGE1 EHMT1 WWOX SMG9 ALS2 ADPRS MAP2K1 CAMTA1 CLPB PEX16 DOCK3 MT-TF NDN PPP3CA GLE1 CLN8 ATP13A2 AP4M1 C9orf72 TOE1 FGF13 TRAPPC2L LRRK2 NCDN GBA2 PDE6D TMEM270 SATB1 CRADD PDPN SUCLA2 NMNAT1 APOE PTCD3 TRAPPC11 REPS1 ACD MT-ATP6 FADD RAB3GAP2 GRM7 PIGQ CLTC NFIX EMC1 RTTN CLCN4 ADSL NUP214 IBA57 STX1B GLYCTK ACTB EIF4G1 CPLX1 TBCK PCYT2 BMP4 TSEN2 MARS2 L2HGDH GABRD ZC3H14 GM2A ERCC8 CTSF MYO7A MED23 RNF113A FASTKD2 METTL27 PIGL CYB5R3 AUH TRAPPC9 CELF2 TTC19 FARSB CLIP1 HECW2 ACY1 HS2ST1 KCTD7 HCN1 ROGDI ZC4H2 METTL23 PHACTR1 VPS4A PUS7 PRSS12 TRAPPC6B ACTL6B MT-CO1 TUBGCP4 POLG MPDU1 NACC1 MVK DOCK6 ERCC6 PIGS ERCC3 SLC39A4 XPA MAG POLR3A LUZP1 SETD1B RLIM IKBKG FKRP OCA2 DPYD ACTL6A DNAJC13 ARV1 RFC2 ALG1 XPC FOXP2 B3GLCT CYB5A KCNA2 DDB2 RSRC1 ALG3 MFSD8 TGFB1 SLC25A22 COG7 MAN1B1 MT-TL1 NODAL PRUNE1 FMR1 KCNB1 CLIP2 AP3D1 ALDH18A1 SCN2A ABHD11 POGZ EDC3 DKC1 ALG8 GJC2 MMACHC CDH23 NSD1 UQCRC1 DARS2 PCDH15 GABRA5 BCAP31 MT-CO2 VARS1 UFM1 CTDP1 STX1A CIC TRIP12 PAFAH1B1 MOCS2 GRIA4 CLN6 SLC35A2 CACNG2 ACO2 SLC2A1 WARS2 KIF1C NDUFAF5 DHDDS DPYSL5 MT-CO3 POLR3B SCN8A HACE1 DDX6 ALG9 MED13 WIPI2 VPS13C MAF YWHAG MBOAT7 STAMBP SMC3 KIF1A FGF12 TBC1D24 KCNQ2 RALGAPA1 NAGA PCCB SMC1A GTF2IRD2 STUB1 PEX19 DNMT1 TCF4 POMT1 DYRK1A MED12L RNF125 PYCR2 GNAQ CTSD DOCK8 SPG11 DNAJC3 VPS37D NUS1 JPH3 AP3B2 RAB3GAP1 DHFR SZT2 SCN1B USH1G RMND1 DYNC1H1 SNX14 SPG7 RFT1 NEMF TREX1 KMT2E EXOSC1 GTF2I HDAC8 IARS2 SLC12A5 SCN9A PDHA1 ADAR AP4E1 SCN1A MAPT MMP23B SQSTM1 SYNJ1 FAR1 AP4S1 SARS1 NDUFA2 USH2A DHX30 CTNS MAN2B1 UFSP2 NDST1 CDH15 STAG1 SUMF1 ADK GBA ERCC1 CSNK2B PIGP TBL2 ZMYND11 TRAPPC12 GIGYF2 CWC27 GABRA2 PDHX CACNA1E RNF216 CRBN BPTF CARS1 RERE PTPN23 CASK UBR7 PDZD7 ADNP IFIH1 ATXN2 EPRS1 HPDL DNAJC30 UBTF MORC2 TP53RK BCORL1 GRN FH KDM4B TPP1 NRROS PSMD12 MECP2 VPS13A GTF2H5 AGO2 HIC1 DLL1 FRRS1L DYNC1I2 FGFR1 RAD21 SPECC1L TMEM70 TRIM8 YIF1B GPHN MEF2C ERCC5 KIF7 WASF1 BSCL2 POMT2 GRIA2 NOVA2 TRAF7 BRSK2 LINS1 KMT2D CAMK2B HEPACAM PNKP PRKAR1B ATAD1 SHPK DPAGT1 HERC1 SETD2 UBE4B PARS2 KIRREL3 ASH1L CNOT3 RAB11A FRMPD4 TCF20 PPT1 MOGS ABCD4 KAT8 AP4B1 CLN5 GCDH PIGU NALCN UBE3A GRIN2B PLAA GTF2E2 GPKOW SLC45A1 PSEN2 SLC2A3 GFM2 GRIN1 VPS35 IRF2BPL KDM6A TBC1D20 PMPCA MT-TQ TDP1 ALG13 UCHL1 TINF2 PRDX1 SPG21 TRMT1 RPS6KA3 PSPH TRAPPC4 TMX2 PSAP CC2D1A FBXW11 CAMK2A MADD NEK1 GAD1 MYT1L WDR73 NDUFA9 MT-TS1 EXOSC9 SIX3 GTF2IRD1 C12orf4 ZNHIT3 TYROBP NTNG1 SHH FARS2 HNF1B RARS1 PIGG NUTM2B-AS1 KCNQ5 PIGV NBEA ALG14 MED25 TRNT1 ADARB1 ACTG1 PGAP2 APC2 POLR3K KANK1 ARX NECAP1 TECR TMCO1 NIPBL LYRM7 MT-TH IQSEC1 LMAN2L GUF1 CDC42 ITPA USH1C ST3GAL3 YWHAE PCLO COL18A1 DCPS COG6 LONP1 MOCS1 POLA1 TTC5 FBXO31 CHCHD10 MT-ND4 WHRN EZR OPHN1 SLC5A6 SNCA PALS1 HSD17B10 TAF2 AMPD2 MED17 BTD PITRM1 MYO5A NAXD NADK2 TIMM8A EXOSC8 ESPN SLC1A4 SLC17A5 UNC80 CHAMP1 FTL TSEN54 CLN3 FMN2 LAT2 SORL1 KCNAB2 PRKN ATXN7 DSE ALKBH8 TANGO2 MT-ND1 NEXMIF TNIK MT-ND5 HTRA2 ALG11 LIMK1 SKI TRRAP BAZ1B HSD17B4 FDXR PIGC UGP2 PIGT ATP8A2 PUF60 KCNT1 FA2H CASZ1 PRDM16 NTNG2 LHX1 EXOC7 VPS53 SET FLI1 PLK4 BICD2 NDE1 AIFM1 CIB2 TRIT1 FKBP6 CLDN4 OCLN GDAP2 MLXIPL FBLN1 SPATA5 DALRD3 COX4I1 TNRC6B COLGALT1 SEPSECS TUSC3 LAGE3 EPG5 MTR TSEN15 HP_CORPUS_CALLOSUM_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORPUS_CALLOSUM_ATROPHY MAN2B1 IRF2BPL HSD17B4 CACNA1E BCAP31 CLN5 ALDH18A1 ATP8A2 DNM1L GBA2 L2HGDH POLR3K FA2H NDUFA8 VPS41 AIMP1 FAR1 EMC1 GFM2 OPA1 MAG STUB1 LMNB1 PEX16 HP_ATROPHY_DEGENERATION_INVOLVING_THE_CORTICOSPINAL_TRACTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATROPHY_DEGENERATION_INVOLVING_THE_CORTICOSPINAL_TRACTS BAZ1B FUS NEFH GTF2I WASHC5 DCTN1 GTF2IRD1 PLP1 CLIP2 MT-ATP6 RTN2 CHCHD10 ABHD11 ABCD1 C9orf72 TBK1 ELN SLC33A1 GTF2IRD2 EIF4H SQSTM1 SOD1 LAT2 STX1A NCF1 VCP RFC2 FKBP6 CLDN4 DNAJC30 SPG11 VPS37D UBAP1 SPAST MLXIPL TARDBP BUD23 TMEM270 METTL27 BCL7B TBL2 CPT1C ATL1 SPG7 LIMK1 CLDN3 NIPA1 PRPH HP_MOTOR_NEURON_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTOR_NEURON_ATROPHY HNRNPA1 DCTN1 PON2 NEFH CCNF ERBB4 ANG PPARGC1A MATR3 PON1 VCP TAF15 SMN1 SQSTM1 ASAH1 SOD1 IGHMBP2 CHMP2B FUS CFAP410 SIGMAR1 FIG4 ALS2 GLE1 VAPB ATXN2 PON3 C9orf72 GLT8D1 OPTN EPHA4 CYLD CHCHD10 TARDBP SETX PSEN1 TREM2 UBQLN2 UNC13A SPG11 DAO TFG PFN1 TRPM7 TIA1 ANXA11 TUBA4A PRPH CEP126 TBK1 SMN2 RBM28 UBA1 NEK1 VRK1 HNRNPA2B1 CPLANE1 MAPT KIF5A ATXN3 HP_ATROPHY_DEGENERATION_INVOLVING_THE_CAUDATE_NUCLEUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATROPHY_DEGENERATION_INVOLVING_THE_CAUDATE_NUCLEUS BSCL2 VPS13A NDUFAF5 TYROBP HTT FTL SLC2A3 FOXP2 NUP62 TREM2 ADAR MT-ATP6 OPHN1 TIMM8A JPH3 HP_ABNORMALITY_OF_THE_SEPTUM_PELLUCIDUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SEPTUM_PELLUCIDUM MAN1B1 SPECC1L CTBP1 PPP1R21 GAS1 PIGA FANCI TUBB2B PIK3CA ARNT2 POMT2 FKRP HCCS LRRC32 TGIF1 NSUN2 HYLS1 FGFR2 C12orf4 GRIK2 EDC3 PGAP1 PCGF2 HESX1 AIMP1 NSD1 RSPO2 LETM1 MBTPS2 NSD2 WASHC4 LINS1 PPP2R5D FMN2 SARS1 ZIC2 GLI2 ROBO1 COL4A1 POMK PACS1 GRM7 DAG1 PTCH1 UBE4A PROP1 SHH LARGE1 SIX3 FKTN MED25 KRAS CRPPA UFSP2 SOX2 NDUFB11 NDST1 ALKBH8 GPR161 SETD2 PAFAH1B1 APC2 COX7B ZC3H14 WDR11 PSAT1 FGFR1 HNMT TNIK TECR WNT3 MED23 EZH2 CSGALNACT1 DLL1 MAPK1 TRAPPC9 STAG2 PROKR2 SSR4 KIF7 IQSEC1 LMAN2L NKX2-1 PTDSS1 LHX4 MUSK CLIP1 B3GALNT2 PPP1R12A SLC12A2 KDM5B FOXH1 PIGC CRBN OTX2 METTL23 PHGDH DHCR24 PRSS12 EHMT1 L1CAM TDGF1 NODAL MBOAT7 ST3GAL3 SLC45A1 POU1F1 CSPP1 POMGNT1 POMGNT2 DCPS FGFRL1 ALG12 CPLX1 KIAA0586 RNF125 FOXA2 PIEZO2 CDON POMT1 NCDN TAF1 TTC5 SOX3 FBXO31 RSRC1 FGF8 RXYLT1 TUSC3 RBM8A CC2D1A CRADD SMG8 DISP1 NEMF FRRS1L B4GAT1 EZR DYNC1I2 HP_ABNORMAL_CHOROID_PLEXUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CHOROID_PLEXUS_MORPHOLOGY FH CDKN2A GNAS NPHP3 SETBP1 NRAS PHGDH MDM2 ZSWIM6 TP53 EXOC8 FOXF1 CHEK2 IFT43 CTSC SMARCB1 HP_ABNORMALITY_OF_SOMATOSENSORY_EVOKED_POTENTIALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SOMATOSENSORY_EVOKED_POTENTIALS STARD7 ABCD1 LMNB1 SAMD12 CYP27A1 SEMA6B GJC2 PLP1 MORC2 TBC1D24 PRPS1 NHLRC1 MARCHF6 YEATS2 TIMM8A ATXN1 EPM2A HP_NEOPLASM_OF_THE_GASTROINTESTINAL_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_GASTROINTESTINAL_TRACT BCL10 SH3KBP1 RAD51D PALB2 HBB ENG BUB1B MSR1 ADA2 SUFU ATP7B LMNA TNFRSF13B RTL1 TJP2 SMAD4 CDKN2B APC SDHC ERBB2 TGFBR2 KCNJ11 DCC PKHD1 RET MUTYH FAS GDNF HMBS RAD51 PIK3CA HFE GATA1 PTPRJ SDHD MET BRCA1 RPGRIP1L PMS2 SDHA TRIM28 BMPR1A CCND1 CDK4 DLC1 MLH3 KLF6 MSH6 MSH2 INS RPS27 MRE11 ACVRL1 AXIN2 KLLN PDGFRL NF1 PMS1 PHKG2 TP53 SEMA3C FAH CHEK2 FLCN PTEN ASCC1 SEMA4A RPS20 STAT6 PDX1 TERF2IP CPOX RELA MITF DLEC1 MEG3 PALLD LZTS1 AHCY POLE RPS29 RPS10 MC1R TNFSF12 RPL26 SMARCC2 CDKN2A COL4A5 PPOX TMEM67 CDKN1B KIT SDHB SETBP1 WT1 ACD POU6F2 MDM2 PSENEN RPS24 PTCH1 NFKB1 MYH11 MLH1 ARID2 IL12A NFKB2 RPL27 BRCA2 BUB1 NAB2 ERBB3 DMPK POLD1 BARD1 PHKA2 YY1 ARID1B INPP5E CEL JAK2 TRIP13 NTHL1 JAG1 CDKN1C HNF4A STK11 DOCK8 MGMT RPL15 MEN1 FOXE1 RAD21 FH SLC37A4 ABCD1 MINPP1 PSAP PIEZO2 PTCH2 CC2D2A UROD KRT5 SMAD7 KCNQ1 SMO DZIP1L KRAS NBN SLC25A13 SMPD1 RPL31 HNF1A IRF5 FAN1 MS4A1 ZFTA GNAS ATP7A SREBF1 CDKN2C CDKN1A GCK POFUT1 PTPN3 G6PC1 RPS17 SOX11 FGFR2 RNF43 RPS28 KEAP1 GPC4 RPS15A BUB3 WWOX RPL18 ICOS CD81 PDGFRA RPL35 EPCAM AKT1 RPL35A FGFR3 KCNQ1OT1 CASP8 GPR35 TSR2 DPF2 ECE1 NRAS EP300 BRIP1 IGF2R CD19 SMARCB1 GREM1 BAP1 TCF4 BLK SPRTN POT1 AXIN1 CTNNB1 ATRX RPL5 PAX4 TNFSF15 ABCC8 GPC3 COL4A6 RPS26 PYGL RAD54B PRKAR1A RAD51C TERT SEMA4D IGF2 TTC37 CASP10 GDF2 IL1RN SMARCD1 USF3 MSH3 RNF6 SEC23B ARID1A SRC AURKA SOX4 SLC2A2 ARSA EDNRB WRN RASGRP1 TNPO3 F5 RHBDF2 CDH1 DAXX AAGAB IL1B SMARCE1 RABL3 COL14A1 TLR2 SEMA3D CR2 BMP2 NEUROD1 IL12RB1 NRTN ABCB4 RPS19 SMARCA4 MCC RPS7 STAT1 BRAF EDN3 SKIV2L RPL11 MTOR KLF11 SERPINA1 APPL1 MMEL1 BAX CEP57 POGLUT1 IRF1 ABCB11 MST1 DICER1 PTPN12 REST TNFRSF13C H19 RAD50 PRKCD POU2AF1 DIS3L2 BLM FASLG CTHRC1 PLA2G2A HABP2 SPIB DLK1 TREX1 HP_NEOPLASM_OF_THE_GENITOURINARY_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_GENITOURINARY_TRACT FIBP EXT2 RPS28 GATA4 SDHD RAD51D RNF43 KEAP1 GPC4 RPS15A BMPR1A B3GALT6 PALB2 BUB3 BUB1B DIS3L2 MLH1 PIK3CA WNT10A WT1 ADA2 SUFU VHL FLI1 PTEN HNF1B LMNA RPL18 BAP1 MAD1L1 BMPER PHF21A AR DHH STK11 IGF2 SLC6A17 KRAS AKT1 H19 PBRM1 NTHL1 FH RPL35 NR5A1 RPL35A CYP11B1 FGFR3 KCNQ1OT1 RAD51 GATA1 TGFBR2 PTPRJ BRCA1 EWSR1 PMS2 KANSL1 TRIM28 TMEM127 ZFHX3 SDHB CCND1 GPC3 CDH1 TSC2 TSR2 RNASEL DLC1 APC2 MLH3 MSH6 RET MSH2 NRAS SRY EP300 VAMP7 RPS27 DMRT3 MRE11 BRIP1 RNF139 POU6F2 AXIN2 KLLN BCL10 OPCML GREM1 SDHC TSC1 TP53 APC CDC73 HDAC4 MSH3 TRIP13 CHEK2 PRCC FLCN SEMA4A RPS20 STAT6 RPL5 PAX6 MC2R DLST RELA STAR MAP3K1 PALLD IFNG COL4A6 WWOX MVK RPS29 DCC MAX MNX1 RPS10 RPS26 HRAS RAD54B MRAP ATP7A PRKAR1A RAD51C TRIM37 ASXL1 RPL26 RB1 COL4A5 HNF1A CDKN1B TFE3 CDKN2A DICER1 SETBP1 OGG1 MDM2 USF3 NNT RPS24 PTCH1 STAG3 ERBB2 MDH2 SRC AURKA RPL27 CTNNB1 BRCA2 BUB1 WRN FGFR2 NAB2 DMPK POLD1 BARD1 NSD1 AAGAB RABL3 ZFPM2 COL14A1 TLR2 TXNRD2 TBX18 IDH1 STS CDKN1C DOCK8 RPL15 PRKN FOXE1 RPS19 NOD2 SETD2 EPHB2 MCC KIF1B RPS7 EPCAM MINPP1 FN1 MXI1 PDGFRL BRAF PTCH2 RPL11 KCNQ1 BAX CREBBP PMS1 SEC23B NBN CEP57 FERMT1 REST SOX9 RPL31 PTPN12 SMAD4 KIT FAN1 MET ZFTA KLF6 RAD50 POLE SDHA NR0B1 BLM DHX37 SLC25A11 SDHAF2 IDH2 PLA2G2A HABP2 RPS17 ALX4 CXCR4 NF1 HP_FACIAL_TELANGIECTASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_TELANGIECTASIA SOX18 GNPTAB DAXX WNT10A ARX SLC29A3 VPS53 POLE BLM SLC2A10 ATRX SDHD HP_CONGENITAL_LOCALIZED_ABSENCE_OF_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_LOCALIZED_ABSENCE_OF_SKIN LAMA3 BMS1 DLL4 PLEC LAMB3 ITGB4 LAMC2 COL7A1 HP_APLASIA_CUTIS_CONGENITA_OF_SCALP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_CUTIS_CONGENITA_OF_SCALP NSD2 CPLX1 CTBP1 ALX4 ARHGAP31 ITGB4 NELFA LETM1 MSX2 DLL4 ALG9 BMS1 UBR1 MCTP2 PLEC FGFRL1 PIGG HP_EXCESSIVE_WRINKLED_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXCESSIVE_WRINKLED_SKIN ATP6V1E1 PTEN PIK3R1 TBL1XR1 C1R ENPP1 ATP6V0A2 MRAS KRAS BRAF SMARCA2 COL3A1 ACD PARN FGFR3 ADAMTSL2 DKC1 TINF2 CSTA LZTR1 MAP2K1 ATP6V1A TGM5 TWIST2 ABCC6 RAF1 RTEL1 ADAMTS2 FGFR2 PLOD1 CFTR ZNF469 PYCR1 TERT MAP2K2 PTPN11 RIT1 HP_PROMINENT_SUPERFICIAL_BLOOD_VESSELS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_SUPERFICIAL_BLOOD_VESSELS ATP6V1E1 PPARG AGPAT2 ATP6V0A2 TCF4 PPP1R15B POLR3A SEMA4D LMNA PTDSS1 GPR35 SLC25A24 COG4 AEBP1 FOS ATP6V1A ZMPSTE24 FLT4 MST1 RASA1 ANTXR1 SLC39A13 ALDH18A1 CAV1 PYCR1 BSCL2 CAVIN1 LEMD2 HP_IRREGULAR_HYPERPIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRREGULAR_HYPERPIGMENTATION MYT1L GJB6 KMT2E BRCA2 CCDC32 NF1 ABCB6 BUB3 BUB1B MAFB KRAS PTEN ERCC8 GNA11 KMT2D MAP2K2 SPINK5 NDUFB11 ESCO2 TERT CDKN2B PIK3CA NTNG1 VHL RAF1 WDFY3 TERC CRIPT GPNMB ACTB STEAP3 FANCA IL7 BRAF MSH2 NHP2 TOP3A BANF1 FANCC SLX4 ERCC6 SLC12A2 SDHA KANSL1 ATP2A2 CDKN1C DNASE1L3 TSC2 SIN3A WASF1 GRIA4 HGD FERMT1 PLXND1 NCF2 LBR ACTL6B MAPK1 KCNMA1 RFWD3 BLM TMC6 ERCC4 KLLN CYBB GJB3 CWC27 SDHC AKT1 HUWE1 XRCC2 TP63 TUBB HS2ST1 PDGFRA ATM BPTF C1R PLAG1 SOX10 SEC23A PUS7 PTPN23 MAN1B1 UBR7 PARN NOTCH3 PCNT TNFRSF1B DKC1 KITLG NOP10 RET PPP1CB XPA ZMPSTE24 GNAS PHIP IL6 HRAS SH3PXD2B IFNG MTOR POFUT1 SRD5A3 LMNA KRT5 FANCL BRIP1 RLIM IKBKG CYBC1 ACTL6A CD28 PRKAR1A TINF2 MAPK8IP3 HPDL ERCC2 MED12 XPC NCF4 SVBP KRT14 UBE2T TTC37 NRAS PDGFRB CTLA4 IGF2 NPM1 BCORL1 DDB2 KIT KDM4B RAD51 TMC8 PSMD12 MMP2 PSENEN USF3 FGFR1 POLA1 COL3A1 AGO2 PTPN11 CHN1 MAD2L2 PALS1 JARID2 PALB2 RERE FANCI BUB1 ANAPC1 ZMIZ1 GJB4 SMARCAL1 ERCC1 ERCC5 FANCE ABCD1 KDM5C FANCF CDKN1B DSTYK UBR1 CARD14 MAX SHOC2 C1S WBP11 FANCG PMS2 KDM6A HMGA2 GJA1 SDHB TRIP12 STK11 CASR TANC2 FANCD2 MEN1 SPRED1 FGFR3 CIB1 MED27 NF2 PORCN SDHD CNOT3 RBBP8 SALL4 TCF20 TWIST2 CYBA MLH1 KDM6B ARL6IP6 SKIV2L APC KAT8 FANCB DPYSL5 ST3GAL5 LYST DDX6 CREBBP NBN MED13 NCF1 TMEM127 SEC23B SETBP1 RTEL1 CEP57 TSC1 POGLUT1 MAP2K1 ERCC3 NTNG2 IGF1 WRAP53 ACP5 PLEC USB1 DOCK3 CLTRN MSH6 CDKN2C INSR CTC1 CDKN1A COL7A1 HTT TRIP13 COPB1 GNAQ CBL LZTR1 TNRC6B MAPRE2 REV3L TRMT1 EP300 BRCA1 TRAPPC4 SLC6A19 SATB1 FBXW11 KDSR FANCM KIF1B MADD SMARCAD1 TNFRSF1A RAD51C HP_MACULAR_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULAR_ATROPHY RDH5 GUCY2D SIX6 C1QTNF5 ARL2BP LZTFL1 PRPH2 GBA RP9 PRPF31 DRAM2 RS1 MAPKAPK3 HK1 CFH MERTK RHO CFAP418 ATF6 AIPL1 GUCA1A TNFRSF11B SH3BP2 NRL SLC6A6 KCNV2 ELOVL4 WDR19 CFI RAX2 HLA-A YARS1 RLBP1 DHX38 PCYT1A PLK4 IFT140 EFEMP1 NMNAT1 RIMS1 HP_PALMOPLANTAR_HYPERHIDROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALMOPLANTAR_HYPERHIDROSIS WNT10A KRT17 CTSB MBTPS2 KRT16 CFTR KRT6B RSPO1 SERPINB7 PLAA PERP TRPV3 KRT6A HP_DISCOID_LUPUS_RASH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISCOID_LUPUS_RASH CYBB STAT4 NCF2 SPP1 IRAK1 CYBA NCF1 HP_ALOPECIA_TOTALIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALOPECIA_TOTALIS FOXN1 RECQL4 RIPK4 GJA1 DSP JUP ZMPSTE24 NFKB2 UQCRFS1 ANAPC1 MBTPS2 LMNA GJB6 HP_SPONTANEOUS_HEMATOMAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONTANEOUS_HEMATOMAS ITGA2B GP1BA GP1BB F13A1 ENG F8 ITGB3 F5 WIPF1 COG8 GDF2 WAS CD109 F13B ITGA2 ATP7A ACVRL1 GP9 F10 SMAD4 PRKACG HP_RETICULATED_SKIN_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETICULATED_SKIN_PIGMENTATION TERT TINF2 KRT14 KRT5 NHP2 DKC1 HP_GENERALIZED_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_EDEMA DOK7 PMM2 FARSB UBR1 PIEZO1 PHGDH PRF1 NOS1AP CALCRL CD55 HELLPAR FSHR MYLK DPAGT1 TMEM260 PLVAP MOGS CFI PDSS2 CFH COQ2 CD46 HP_CONGENITAL_ICHTHYOSIFORM_ERYTHRODERMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_ICHTHYOSIFORM_ERYTHRODERMA ERCC3 ST14 POMP ALOX12B ALOXE3 KRT1 KRT2 TGM1 CERS3 PNPLA1 EBP SPINK5 TARS1 KRT10 ERCC2 LIPN ABCA12 ABHD5 GTF2H5 GBA NIPAL4 ASPRV1 LORICRIN CYP4F22 STS NSDHL HP_GENERALIZED_HYPERPIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_HYPERPIGMENTATION KRT5 GJB6 HFE PAX6 AKT1 CYP11A1 TRAPPC11 MRAP KRT14 AAAS ATP6V1B2 KRAS BRAF ALDH3A2 MYO5A KCNH1 ACD USP8 HJV PARN TP63 SLC40A1 AIP PTEN DKC1 TINF2 MAP2K1 GPR101 CDH23 MC2R HRAS STAR RTEL1 POLA1 HAMP KCNN3 NNT GMPPA TERT MAP2K2 INSR TXNRD2 HP_PARTIAL_ALBINISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARTIAL_ALBINISM MYO5A TYRP1 PAX3 SNAI2 LAMTOR2 MITF RAB27A KIT MLPH HP_PALMOPLANTAR_BLISTERING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALMOPLANTAR_BLISTERING KRT14 ITGB4 KRT1 KRT5 COL7A1 KRT16 PLEC KRT17 KRT6B DSG1 KRT6A HP_DIFFUSE_PALMOPLANTAR_HYPERKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFUSE_PALMOPLANTAR_HYPERKERATOSIS SLURP1 KRT14 AQP5 KRT1 SERPINA12 SNAP29 RHBDF2 KLHL24 HP_CONFETTI_LIKE_HYPOPIGMENTED_MACULES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONFETTI_LIKE_HYPOPIGMENTED_MACULES MEN1 CDKN1A CDKN1B TSC2 CDKN2C TSC1 NONO CDKN2B HP_PROMINENT_VEINS_ON_TRUNK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_VEINS_ON_TRUNK ATP6V1E1 PPARG AEBP1 ATP6V1A ATP6V0A2 HP_AUTOAMPUTATION_OF_DIGITS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTOAMPUTATION_OF_DIGITS RETREG1 CCT5 KRT1 MPV17 GJB2 NTRK1 TGM1 NGF KIF1A WNK1 SCN9A HP_HEMANGIOMATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMANGIOMATOSIS PTEN TENT5A FGFR2 AKT1 KDELR2 MBTPS2 ENG IDH1 KRAS GNAQ VHL TEK GDF2 EIF2AK4 PIK3CA RASA1 IDH2 CCND1 SLC26A2 ACVRL1 PTH1R SMAD4 FGFR1 HP_ABNORMAL_DERMATOGLYPHICS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DERMATOGLYPHICS ATR RNU4ATAC SEPSECS RPL10 THOC2 A2ML1 SMPD4 SALL4 RTL1 GTF2I HDAC8 DLX4 DIS3L2 RIT1 KRAS GTF2IRD1 PDHA1 VPS51 PEX1 BMPR1B SLC25A24 HNRNPK COX14 APC RAF1 CCDC32 TPM2 GPR101 PEX10 NUP88 MCTP2 PEX3 NSD2 UBR7 RPS6KA3 GDF5 ITCH PPP2CA SMOC1 SPTBN1 BRAF ANKRD11 SMARCAD1 SMC3 CBL EXTL3 FGD1 TELO2 ATP6V0A2 MAP1B SPECC1L NEXMIF SIN3A SOS2 KCNK9 BMP4 WDR37 NOG AIP B4GALT7 NUP188 ASXL2 CSGALNACT1 NXN METTL27 NIPBL TBL2 PEPD SOS1 ARID1B PIGL XYLT1 FGFR2 MAP2K2 CKAP2L CHD7 RAB3GAP2 BHLHA9 PEX11B OTUD5 PEX14 FIG4 NRAS PEX26 HDAC4 MAP3K7 UBE3B PEX6 PORCN NALCN PEX5 ERGIC1 PKDCC DOCK6 STXBP1 PIGS VAC14 CTCF ROR2 MEG3 DPAGT1 ADNP MED12 FGFR3 MTOR MYH3 TFAP2A RBM10 FGFRL1 DSE TGDS EXT1 PLAA CPLX1 YY1 TP63 KDM4B IFT122 AFF3 NCF1 DPYD LONP1 TRPS1 RFC2 TRIM37 MSL3 KRT14 DNAJC30 MYOD1 TSEN2 CHST14 DPH1 RRAS2 FOXP1 CEP55 DHODH SMARCA2 FGF9 CD96 BCL7B AUTS2 TASP1 MED25 LRP4 IFT43 PEX13 RAD21 RAB11B RB1 TBL1XR1 PTPN11 CTBP1 HOXA13 LIFR AMACR PEX12 RPS23 NGLY1 SLC18A3 PAX1 ARL3 SEMA3E CLIP2 COL17A1 BCOR ABHD11 CDK10 PEX16 EHMT1 UBR1 TCF12 DOK7 SHOC2 LETM1 ELN PIEZO2 EYA1 WAC KMT2D EIF4H LMX1B CCBE1 LAT2 HRAS VPS13B NUP107 PEX2 STX1A ATP6V1B2 PEX19 ASXL3 RRAS BRD4 BUD23 ASXL1 SETBP1 DLK1 LIMK1 CLDN3 NBAS ADAMTSL1 MTX2 BAZ1B MUSK TCF4 RIN2 TBX4 PACS1 GATA1 VPS33A CREBBP MRAS GPKOW TNNT3 RIPK4 MAP2K1 LZTR1 IFT57 TNNI2 IGF1 DHCR7 PUF60 ZNF462 KATNB1 SMC1A GTF2IRD2 KCNN3 STAG1 ESCO2 OFD1 DDX11 FLNA RAPSN GLE1 KDM6A ZNF292 TSEN15 FKBP6 CDK19 CLDN4 RASA2 KCNH1 CHST3 VPS37D BRF1 B3GLCT MLXIPL PNPLA6 TWIST1 RAB3GAP1 SLC39A13 NECTIN1 TSEN54 NAA10 PLOD3 CEP57 EP300 TMEM270 G6PC3 TSEN34 KAT6B HP_CONGENITAL_NONBULLOUS_ICHTHYOSIFORM_ERYTHRODERMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_NONBULLOUS_ICHTHYOSIFORM_ERYTHRODERMA ERCC2 ERCC3 ABHD5 POMP GTF2H5 ALOX12B GBA ALOXE3 TGM1 NIPAL4 ASPRV1 LORICRIN CYP4F22 SPINK5 TARS1 HP_ABSENCE_OF_SUBCUTANEOUS_FAT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENCE_OF_SUBCUTANEOUS_FAT ERCC2 TARS1 FBN1 KCNJ6 ERCC3 RNF113A ERCC4 ZMPSTE24 POLR3A GTF2H5 CAV1 LMNA MPLKIP GTF2E2 HP_LINEAR_ARRAYS_OF_MACULAR_HYPERKERATOSES_IN_FLEXURAL_AREAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LINEAR_ARRAYS_OF_MACULAR_HYPERKERATOSES_IN_FLEXURAL_AREAS KRT17 KRT6B POMP KRT16 KRT6A HP_PREMATURELY_AGED_APPEARANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURELY_AGED_APPEARANCE C1R COL1A1 ENPP1 TFAP2A GTF2I CDH11 KRAS WRN FBLN5 GTF2IRD1 POLR3A LMNA ERCC8 ACD SLC25A24 TERT RBBP8 ATRIP GORAB RAF1 RTEL1 SLC2A10 TERC EDNRB SNAI2 TWIST2 STN1 ZNF469 PTEN NHP2 ERCC2 NAA10 ERCC6 ATP6V0A2 CHD2 PYCR1 FAS ELN ADAMTSL2 CENPE B4GALT7 PAX3 SOX10 RNF113A EDARADD METTL27 SLC6A1 TBL2 PARN MDM2 MAP2K2 RAB3GAP2 ERCC3 ALDH18A1 EDAR ATM TRAIP PCNT BRAF DKC1 NOP10 TGM5 ABCC6 ATR ZNF699 ZMPSTE24 MYO5A MTAP MED12 EDA NCF1 KCNJ6 TINF2 RFC2 SYNGAP1 INSR EDN3 COL3A1 DNAJC30 NPM1 ATP6V1A NEXMIF COL5A2 DSTYK COG5 ANTXR1 FGFR2 BCL7B GTF2H5 CYP27A1 SCN1A TYR MITF ERCC4 BRCC3 TBL1XR1 ERCC5 AP2M1 LMNB2 CLIP2 RECQL4 ERCC1 MPLKIP ABHD11 TALDO1 ALG8 ADAMTS2 EIF4H LAT2 STX1A MRAS SMARCA2 TOR1A CEP152 FGFR3 COL5A1 MLXIPL KITLG SLC2A1 CSTA TARS1 BUD23 PLK4 PTPN22 PLOD1 PSMB8 LIMK1 CLDN3 PTPN11 MTX2 PIK3R1 BAZ1B PTDSS1 GTF2E2 MAP2K1 WRAP53 CENPJ USB1 GTF2IRD2 STUB1 ATP6V1E1 FBN1 FKBP6 CTC1 CLDN4 VPS37D LZTR1 RAB3GAP1 RAB27A TMEM270 GHR CFTR RIT1 HP_RECURRENT_STAPHYLOCOCCAL_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_STAPHYLOCOCCAL_INFECTIONS CIITA PGM3 ITGB2 NTRK1 RFXAP IRAK4 NCF1 CYBB LYST IL17RA STAT3 NCF2 CYBA FCN3 RFXANK RFX5 HP_FOLLICULAR_HYPERKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOLLICULAR_HYPERKERATOSIS PSENEN LRP1 KRT81 COL6A2 NLRP1 DDR2 DSG4 KRT6B SLC27A4 TARS1 KRT83 TRIP4 MBTPS2 FKBP14 KRT16 PLOD1 DSC3 KRT17 KRT86 POFUT1 PKP1 COL6A3 COL6A1 KRT6A HP_GENERALIZED_HYPOPIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_HYPOPIGMENTATION KRT5 HPS1 SKIV2L TYRP1 ZPR1 LEMD3 AP3B1 TP63 CACNA1F DTNBP1 HERC2 NPAP1 TYR TTC37 SLC45A2 EPG5 BLOC1S3 AP3D1 NDN HPS4 SNRPN PWRN1 MC1R HPS5 BLOC1S5 LRMDA MAGEL2 MITF OCRL SNORD116-1 LYST HPS6 PAH CTNNB1 EDNRB SNORD115-1 MKRN3 OCA2 PWAR1 SLC24A5 HP_EDEMA_OF_THE_DORSUM_OF_HANDS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EDEMA_OF_THE_DORSUM_OF_HANDS PLAA LMOD3 HS3ST6 NEB ACTA1 ZNHIT3 RNF13 TGM1 KNG1 RBM8A KLHL40 SERPING1 ANGPT1 KLHL41 HP_PALMOPLANTAR_CUTIS_LAXA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALMOPLANTAR_CUTIS_LAXA FGFR2 PLOD1 C1R LZTR1 ATP6V0A2 ZNF469 RIT1 MRAS HP_SEVERE_PHOTOSENSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_PHOTOSENSITIVITY NHLRC1 GATA1 DHCR7 UROD UROS EPM2A HP_EPIDERMAL_HYPERKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPIDERMAL_HYPERKERATOSIS LMNA ZMPSTE24 SOX18 GJA1 BRAF HP_DESQUAMATION_OF_SKIN_SOON_AFTER_BIRTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DESQUAMATION_OF_SKIN_SOON_AFTER_BIRTH LIG4 DCLRE1C IL7R RAG1 ADA RMRP TGM1 CHD7 IL2RG RAG2 SLC27A4 GBA HLCS HP_ABNORMAL_SUBCUTANEOUS_FAT_TISSUE_DISTRIBUTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SUBCUTANEOUS_FAT_TISSUE_DISTRIBUTION PTEN ATP6V1E1 PMM2 TBL1XR1 TGFB1 AKT1 ATP6V1A ATP6V0A2 HP_PLANTAR_HYPERKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PLANTAR_HYPERKERATOSIS GJB6 CERS3 PPCS LEMD3 DSP DSG1 WNT10A KRAS SLCO2A1 ATP2A2 PTEN TNNI3 RSPO1 KRT6B HPGD TERT GJB2 PLN GJB3 TNNT2 COL17A1 SLURP1 TERC AAGAB TMPO ABCA12 CTSC KRT1 NHP2 FKTN SMARCAD1 GJA1 TRPV3 PLEC NIPAL4 TXNRD2 PERP NLRP1 KRT6C NECTIN1 TP63 LAMB3 TAF1A NEXN VCL ANKRD1 MT-TS1 FERMT1 RBM20 TRPM4 KLHL24 PEPD PRDM16 CYP4F22 AQP5 MBTPS2 MAP2K2 KLLN PIK3CA SDHC MYH7 KRT14 GJB4 CAST CAP2 ENPP1 KRT5 MYH6 PARN KANK2 ABCC9 DKC1 PSEN1 NOP10 KRT16 TNNC1 TPM1 SRD5A3 GATAD1 LAMA4 TGM1 CD28 TINF2 POMP TNFRSF1B PNPLA1 ACTN2 AAAS PIGL NPM1 COL7A1 ITGB4 TAT KDSR KRT10 USF3 KRT17 ALOXE3 DSG2 LAMC2 JUP KRT9 RECQL4 SNAP29 ALOX12B MCOLN1 RHBDF2 LORICRIN LAMA3 MYPN DES CARD14 COL14A1 TAFAZZIN SASH1 FHL2 BRAF SCN5A USB1 SDHD DOLK SERPINA12 LMNA PKP1 SGCD MTX2 SDHB DMD TRAPPC11 SDR9C7 COG6 SERPINB7 HAND2 KRT83 SEC23B RTEL1 MAP2K1 SDHA KRT2 WRAP53 PSEN2 CSRP3 AKT1 CTLA4 TCAP ACTC1 FGFR2 KRT6A CRYAB CTC1 RAF1 ANAPC1 MYBPC3 LDB3 TTN DSC2 CFTR GMPPA CSTA BAG3 HP_MULTIPLE_CAFE_AU_LAIT_SPOTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_CAFE_AU_LAIT_SPOTS PIK3CA NF1 ARL6IP6 SDHC AKT1 ABCB6 RERE SDHB BUB3 XRCC2 FANCB TP63 BUB1B BUB1 KRAS ATM PTEN BRCA2 MAP2K2 MAN1B1 SEC23B FANCE KDM5C CEP57 MAP2K1 FANCG PMS2 FANCI IL7 MSH6 BRIP1 FANCF MSH2 FANCC SLX4 FANCA BRAF UBE2T TRIP13 CIB1 FANCL RAD51 TMC8 PCNT PLXND1 REV3L BRCA1 USF3 SDHD FANCD2 RFWD3 TMC6 FANCM TWIST2 ERCC4 PALB2 KLLN MLH1 MAD2L2 RAD51C HP_NUMEROUS_PIGMENTED_FRECKLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NUMEROUS_PIGMENTED_FRECKLES ERCC3 ERCC4 GTF2H5 ERCC2 TARS1 ERCC5 MPLKIP RNF113A GTF2E2 HP_RETICULAR_HYPERPIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETICULAR_HYPERPIGMENTATION POLA1 KRT14 TINF2 POFUT1 TERC TERT PORCN HP_APLASIA_CUTIS_CONGENITA_ON_TRUNK_OR_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_CUTIS_CONGENITA_ON_TRUNK_OR_LIMBS KRT14 ARHGAP31 KRT5 ITGB4 PLEC HP_BILATERAL_SINGLE_TRANSVERSE_PALMAR_CREASES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_SINGLE_TRANSVERSE_PALMAR_CREASES RNU4ATAC SEPSECS PEX11B GDF5 PEX1 PEX14 HDAC8 AMACR DIS3L2 PEX12 PEX26 SMOC1 HDAC4 TBX4 PEX6 BMPR1B TNNT3 TPM2 PEX16 PEX10 SMC3 TNNI2 CKAP2L ROR2 PEX3 SMC1A FGFR3 MYH3 ESCO2 CCBE1 EXT1 PEX2 TRPS1 TELO2 TSEN15 PEX19 CHST3 TSEN2 PEX5 PNPLA6 NOG DPH1 TWIST1 BRD4 NECTIN1 NUP188 TSEN54 NALCN FGF9 CD96 NXN NIPBL PEPD TSEN34 FGFR2 PEX13 RAD21 KAT6B HP_EXCESSIVE_WRINKLING_OF_PALMAR_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXCESSIVE_WRINKLING_OF_PALMAR_SKIN FGFR2 PLOD1 TBL1XR1 C1R CSTA LZTR1 ATP6V0A2 ZNF469 TGM5 RIT1 MRAS HP_BILATERAL_MICROPHTHALMOS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_MICROPHTHALMOS FRAS1 PTCH1 ERCC1 TARS1 FIG4 STRA6 ERCC3 VAC14 PAX6 SHH TCOF1 RNF113A CAPN15 PUF60 GTF2H5 ERCC2 RTTN MED13L GDF3 GDF6 FAM111A MPLKIP GTF2E2 HP_DYSCHROMATOPSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSCHROMATOPSIA FGF14 C1QTNF5 OPN1MW CEP78 MORC2 PRPH2 TK2 PROM1 CNGB3 NR2E3 GUCY2D OPA1 IMPG1 POLG MTRFR AFG3L2 TMEM126A OPN1LW OPN1SW BEST1 PDE6C DNM1L PDE6H OPA3 ACO2 GUCA1A HP_CONGENITAL_STATIONARY_NIGHT_BLINDNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_STATIONARY_NIGHT_BLINDNESS GPR179 GRM6 TRPM1 SAG RHO CACNA1F FGFR2 GNB3 LRIT3 GNAT1 CABP4 GRK1 NYX MYO6 SLC24A1 RDH5 PDE6B PRPH2 RLBP1 TRAPPC9 CACNA2D4 HP_PUNCTATE_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PUNCTATE_CATARACT GJA8 OPA3 MAF RTN4IP1 SEC23A CRYBB2 CRYBB1 HSF4 LIM2 VIM BEST1 FTL HP_ECTROPION_OF_LOWER_EYELIDS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTROPION_OF_LOWER_EYELIDS CTNND1 DLX4 DHODH CDH1 RNF2 HP_EVERSION_OF_LATERAL_THIRD_OF_LOWER_EYELIDS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EVERSION_OF_LATERAL_THIRD_OF_LOWER_EYELIDS GRIA3 KDM6A KMT2D CDC42 HNRNPK HP_ABNORMALITY_OF_CHORIORETINAL_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CHORIORETINAL_PIGMENTATION PAX6 SIM1 TSC2 DCT MAGEL2 SLC25A15 BEST1 MICOS13 TSC1 WT1 VPS33A OAT HP_REDUCED_VISUAL_ACUITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_VISUAL_ACUITY SARDH SEPSECS COL11A1 PROM1 CEP290 ARL2BP ENG GNB3 UROS ERF PCARE NHS PDHA1 ARL6 RBP3 GUCY2D SELENOI GALC INPP5E ANKRD55 C1QTNF5 FBN1 HEXA RPE65 LRAT NDP NYX GPR143 CCR1 OFD1 OPA1 ZEB1 AP4S1 CDH3 TUB SMCHD1 DPP6 IDH3B HPS1 ARL2 RTN4IP1 FAS CTNS CRYAA PAX6 MTRFR ABCC6 ZFYVE26 IMPG2 PSAP ATIC VSX1 IFT140 WASF1 PIK3CA FREM2 OCRL AIPL1 ITGB3 TMEM67 IMPG1 PDE6C MC1R TUBB3 KIAA1549 ACVRL1 IDH3A SLC24A5 OCA2 ZNF423 SAG RGR COL9A1 NF1 PDGFB PRPF31 ZNF408 GRIP1 IL2RB TGFBI CRX PDE6H PRIMPOL CACNA1F RBP4 PRPH2 GDF6 NDUFAF3 BAP1 TOPORS GUCA1B SLC45A2 LOXL3 BBS1 CDH23 LRPAP1 NRL IQCB1 FZD4 RP1L1 CLRN1 PIGN ALMS1 IFT88 OAT RDH12 ADNP STAT4 CFAP418 FGFR3 FKRP PQBP1 COL2A1 FOXRED1 HLA-DRB1 REEP6 KIF14 CREBBP FOXL2 EPRS1 SPATA7 SCAPER CNGB1 PUF60 ARHGEF18 TSEN2 UROD SEMA4A MT-ND1 KRT12 RFT1 ATF6 ERAP1 NDUFB9 PITX2 SMARCA2 MFSD8 NDUFS8 ITGA2 MTRR OPA3 MFRP TASP1 LCA5 ARNT2 CLCN6 CHN1 PRPF6 ROM1 CHRDL1 ARL3 GP1BA B3GAT3 NMNAT1 CLCN7 TMEM138 IL23R NSMCE2 SLC4A11 SREBF1 HK1 NDUFAF4 RD3 DYRK1A PLG DMPK B4GAT1 SDHAF1 MIR204 NDUFAF2 AHR TNFSF11 NDUFV2 USH2A POMK CHP1 SLC38A8 PDE6G CACNA2D4 TANGO2 B3GALNT2 TUBA3D CRB1 VPS13B KIDINS220 TULP1 MAK CTNNB1 ELOVL4 NPHP4 AFF4 LYST MMP19 DNM1L CNGA1 COL9A2 PORCN FSCN2 MT-ND2 NDUFAF5 DHX38 KCNJ13 KAT6A MIR184 RPGRIP1 PLOD1 SCN1A FGFR2 KLHL7 FRMD7 DNAJC30 LIM2 SMO PPT1 APC POMT1 RHO NDUFS2 TCIRG1 AP4B1 CRYBB1 IL10 XYLT2 KIZ TTC8 BEST1 ELN CYP4V2 POLR3GL GRHL2 RLBP1 YME1L1 TMEM126A PEX6 NDUFA1 NDUFS4 PDE6B ADAMTS10 FKTN PITPNM3 GP1BB SDHB LRP5 TSPAN12 ACO2 NUBPL PANK2 CHST6 NDUFS3 XYLT1 CNGB3 GPR179 GNAS ARHGEF2 PRPF4 RPGR WAC TBC1D24 TSEN15 GMPPB AP4M1 MTTP SDHA DRAM2 RP2 POLG COX7B PRDX1 PGK1 BBS5 POMGNT1 POMT2 SH3BP2 FAM161A ARMC9 NAA10 TYR LAMA1 BLOC1S5 TBX1 CTC1 HPS6 TSEN34 SDHD ITGA2B RORA ZMIZ1 KIF11 ABCA4 MAFB UBAC2 CA4 STX3 USP45 ATP1A3 MT-ATP6 TMEM237 OVOL2 NDUFS7 C1QBP PTPN2 MEFV PDE6A WDR19 KLRC4 TENM3 NFIX IL2RA VPS11 HEXB LAMB2 GLB1 C4A ARSA AKT1 WHRN NDUFS1 TRPM1 EYS TMEM216 PRPF3 CHST3 PCYT2 DHDDS AP4E1 RIMS2 NDUFB11 FLVCR1 CCDC28B AIP BMP4 BLOC1S3 IMPDH1 GNAT1 SLC39A14 RAC1 CD109 GNAT2 PRCD OPN1LW RRAS2 HPS4 WARS2 EIF2B5 GM2A TIMP3 PRPS1 NR2E3 TLR4 BRAF DLD WDR26 MEN1 MAP3K7 MAPKAPK3 BBS2 CBS CNGA3 CABP4 P4HTM GATA1 TMEM98 CEP250 POC1B RHOA ADAMTSL4 COL4A1 MAG PITX3 IL12A-AS1 SOBP CDC42 RP9 TRAF7 XRCC4 EIF2B2 FXN LONP1 AP3B1 RCBTB1 NDUFA6 NDUFB10 DTNBP1 AIRE RP1 NDUFV1 GDF2 CERKL SLC1A3 SUFU PTPN22 GUCA1A AGBL5 SALL2 OGT OPN1SW NDUFAF1 MED25 DCT POGZ CLCC1 COL8A2 SLC7A14 PCYT1A HSD17B10 ABCD1 DHX37 TUBGCP4 IFT172 CAPN5 HCCS MMACHC BCOR MARK3 ACTB NF2 SCN8A GJB2 MTFMT SMARCB1 CLN3 NLRP3 ALG3 UFM1 FBN2 PRPF8 EIF2B1 HGSNAT NDUFA11 BTNL2 HLA-B ATXN7 PROS1 TIMM8A AHI1 SMARCE1 MLXIPL LRIT3 GRM6 CDHR1 KIF1C SALL4 PHOX2A ZNF513 NBAS PLA2G6 FRAS1 FDXR NDUFAF8 NR2F1 TERT MT-ND3 ASPA IL12A GRK1 MERTK NDUFS6 TRIO SNRNP200 NEK2 H1-4 ELOVL1 HPS5 TIMMDC1 EIF2B4 SMAD4 FLNA ATRX POU3F4 CD247 GNAQ TMEM231 SLC24A1 TWIST1 NDE1 AFG3L2 OPN1MW TSEN54 COL9A3 TACSTD2 CRYGC TUBB4B EIF2B3 CEP164 NDUFB3 LARGE1 TMEM126B PIK3R2 MTR RIC1 CC2D2A HP_CURLY_EYELASHES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CURLY_EYELASHES BRD4 HDAC8 SMC3 ABCC9 FZD2 KCNJ8 SMARCA2 NIPBL DVL1 SMC1A WNT5A DVL3 RAD21 STAG2 HP_ABNORMAL_VESTIBULO_OCULAR_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VESTIBULO_OCULAR_REFLEX ESPN CACNA1A CLIC5 FXN RFC1 HP_PROGRESSIVE_NIGHT_BLINDNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_NIGHT_BLINDNESS ABCA4 PRPF31 PROM1 CRX PCARE CA4 PRPH2 ARL2BP ARL3 RDH11 IMPG2 KIZ TTC8 MERTK TOPORS CYP4V2 BBS2 CLRN1 SNRNP200 RLBP1 RPE65 GUCA1B ARL6 NEK2 LRAT AHR PDE6A IFT88 OFD1 USH2A OAT IFT172 PDE6G RP9 PRPF6 IDH3B RP1L1 INPP5E RDH5 GUCY2D CRB1 EYS RDH12 REEP6 CFAP418 TUB PRPF4 TULP1 MAK POU3F4 ZNF408 PRPF3 PRPF8 HGSNAT SPATA7 CNGB1 DHDDS ARHGEF18 SCAPER RP1 NRL IFT140 SEMA4A AHI1 RP2 CERKL CNGA1 PRCD RHO FSCN2 IMPDH1 AGBL5 RBP3 FAM161A DHX38 RPGR CDHR1 POMGNT1 BEST1 NR2E3 KLHL7 ZNF513 KIAA1549 PDE6B IDH3A SAG SLC7A14 ROM1 RGR HP_HYPOPLASIA_OF_THE_IRIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_IRIS PITX2 CPLX1 PIK3R1 PAX6 CTBP1 WDR73 IGF1R LRP2 MAFB SOX10 FBN1 FOXC1 HHAT CPAMD8 PORCN ITPR1 NDP ERCC6 PAX3 MIR184 WT1 FGFR1 LETM1 SALL4 NSD2 COL4A1 FGFRL1 LAMB2 MITF STIM1 CHN1 ADAMTSL1 HS2ST1 HP_LACRIMAL_DUCT_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACRIMAL_DUCT_STENOSIS PIK3CD YY1 SIX1 PAX1 EYA1 CD151 TET3 PPP1CB KAT6A TCOF1 KNSTRN PTDSS1 HP_PERIPHERAL_RETINAL_AVASCULARIZATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_RETINAL_AVASCULARIZATION TSPAN12 LRP5 CTNNB1 FZD4 NDP ZNF408 DLK1 RTL1 MEG3 HP_ABNORMAL_PUPILLARY_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PUPILLARY_FUNCTION CHRDL1 KIF1B SF3B1 SIX6 PEX10 COLQ BAP1 PDE6H ATP1A2 PEX7 SPATA7 GALC PRPS1 MYL9 HHAT CNGA3 GNA11 LCA5 STIM1 CYSLTR2 ORAI1 SH3TC2 CNGB3 SLC1A3 PDE6C PHYH MYH11 CACNA1A RPGR RPE65 GNAQ CHRNA3 MPZ ATP1A3 PRNP NOTCH2NLC GNAT2 LOXL1 ACTA2 LRAT DNMBP LAMB2 PMP22 TULP1 PSAP DDC ATF6 HP_UNILATERAL_PTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNILATERAL_PTOSIS PUF60 MED12L MID2 SMS SMC1A CAPN15 HP_UNDETECTABLE_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNDETECTABLE_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM RP9 AIPL1 NUP62 CERKL IMPDH1 ADAR NR2E3 RP1 PCYT1A MT-ATP6 CLRN1 RPGRIP1 HP_ABNORMAL_PUPILLARY_LIGHT_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PUPILLARY_LIGHT_REFLEX CNGB3 LCA5 LRAT PDE6C LAMB2 COLQ RPGR PMP22 PDE6H TULP1 RPE65 PSAP SH3TC2 SPATA7 CHRNA3 GALC MPZ PRPS1 ATF6 GNAT2 CNGA3 HP_OCULAR_ANTERIOR_SEGMENT_DYSGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCULAR_ANTERIOR_SEGMENT_DYSGENESIS SDHD BFSP2 GTF2I MAFA ADA2 LMNA ERCC8 AGK MT-CO2 CPAMD8 VHL MT-TV NDP RERE FAR1 ZNF469 HMX1 GATA1 CENPF TCTN1 LSS CRYAA RAB18 ERCC6 XYLT2 TRIM28 ZEB2 SDHB ALDH18A1 WDR37 IFIH1 FAM111A OCRL SAMHD1 ITPR1 WFS1 CYP1B1 NUP188 TBL2 RPS27 RFWD3 PYCR1 ERCC4 PAX6 AKT1 SDHC RPS20 HHAT PORCN RET BTRC MT-TW PEX7 EHMT1 ERCC2 RPGRIP1L FKRP FGFRL1 GLIS3 FOXC1 RPS29 CPLX1 MAX TMEM67 RPS10 NCF1 B9D1 RPL26 DNAJC30 PIK3C2A MIP CDH2 WT1 MT-TC POU6F2 ELP4 ENTPD1 UBE2A ADAR BCL7B GTF2H5 TXNDC15 RPS24 CHN1 MDH2 RECQL4 LMX1B PXDN B3GAT3 RPL27 RAB3GAP2 BRCA2 FOXE3 ERCC1 MPLKIP SIL1 MT-TF MIR204 ELN TREX1 GFER SLC38A8 EIF4H FAM126A SLC33A1 TRIP13 SEC31A PSMC3 B9D2 JAG1 FANCA MT-TK DPAGT1 EPHA2 RPL15 TEK CRPPA MAP2K2 KIF1B TARS1 CANT1 FBN1 BUD23 DAG1 MIR184 MKS1 KANSL1 MT-TS1 CLDN3 ADAMTSL1 WNT10B ETFDH PIK3R1 TMEM216 FANCB IGF1R CRYBB1 LRP2 GTF2E2 PEX11B CC2D2A RPL31 CRYBB2 ADAMTS10 FKTN ETFB MAB21L1 TONSL SEM1 HSPG2 FANCF FH TBC1D20 PEX5 EPS15L1 B3GLCT CRYGD SRY SLC25A11 TRIM44 POMT2 PRDM5 SDHAF2 BRCA1 VSX1 TMEM270 RPS17 LTBP2 NF1 HS2ST1 KMT2C CEP290 RAD51C RPS28 PITX2 RPS15A LONP1 WDR73 MAFB TMEM231 GTF2IRD1 RPL18 TCTN3 CRYBA2 RPL35 FBXW11 SLC2A10 NSD2 TENM3 RPL35A LAMB2 RAB3GAP1 BCOR ATOH7 TELO2 SLX4 CHST3 TMEM127 ATAD3A LDHD CSPP1 TSR2 ETFA RNF113A METTL27 CRYBA1 FLNA XRCC2 MT-ND6 SOX10 VPS4A EPG5 MAF MT-ND5 RPL5 PTEN DOCK6 DLST ERCC3 RNASEH2B GCNT2 COL18A1 COL4A1 SH3PXD2B POMT1 MED13L MT-TQ RPS26 FANCC RFC2 UBE2T POMGNT1 DLX5 RAD51 NEU1 FGFR1 CRYGB MED25 MITF RBP4 TMEM237 MAD2L2 MT-CO1 TMEM107 CTBP1 RNASEH2C MT-TL1 GNAQ CLIP2 FANCE ABHD11 DLX6 CRYBB3 RNASEH2A LETM1 PIEZO2 PHGDH RPGRIP1 BDNF FUT8 FANCI NCAPG2 LAT2 ABCA2 CTDP1 STX1A RPS19 MSMO1 FANCL RPS7 PITX3 FGFR2 SALL4 LIMK1 KCNA4 PIGY BAZ1B RPL11 MT-ND1 FGF3 TP63 COL4A5 COL2A1 PNPT1 REST GJA8 GTF2IRD2 H19 NHS MT-CYB SDHA COL11A1 FKBP6 CLDN4 DIS3L2 ANAPC1 SIPA1L3 VPS37D FANCG MLXIPL IARS2 CRYAB TCTN2 PAX3 KCTD1 CRYGC MT-TS2 GPC3 TWIST1 BRIP1 FANCD2 LARGE1 CAV1 MT-CO3 FANCM PALB2 STIM1 RIC1 HP_ABNORMALITY_OF_RETINAL_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_RETINAL_PIGMENTATION ERCC2 PROM1 DYNC2LI1 SURF1 GNB3 PCARE CNGA3 LMNA BBS1 ARL6 MT-ND6 RAB3GAP1 TUBGCP6 HADHA GUCY2D SELENOI WDR19 RPE65 NYX PEX10 OFD1 PEX3 CACNA1F NMNAT1 IDH3B GUCA1A CTNS MSTO1 MT-TS2 TNFRSF11B IMPG2 MT-ND1 GNAT2 IFT140 ATXN7 COX7B ERCC8 AIPL1 MT-ND4 ERCC1 MC1R CRB1 KIAA1549 IDH3A NPHP4 SAG RGR PRPF31 MT-ND2 NGLY1 AKT1 RNU4ATAC CRX BBS9 PDE6H PRPH2 TOPORS PEX6 GUCA1B SLC45A2 PEX5 ADAM9 BBS2 IQCB1 CDH3 SCAPER VPS41 RP1L1 TRAF3IP1 ZFYVE26 IFT88 CEP290 MKS1 RDH12 TACO1 DYNC2I1 LIPT1 SLC19A3 PDE6C REEP6 FSCN2 SPATA7 HCCS CNGB1 MT-TL1 ARHGEF18 USH2A MORC2 SEMA4A OCA2 SUMF1 RHO MT-TW NDUFS8 PDE6A TNFRSF11A BBIP1 MFRP PRSS56 LCA5 ISCA1 ROM1 RAB28 ARL3 LZTFL1 MT-ND5 DRAM2 NR2E3 RNF216 POMT2 SDHAF1 PEX16 PET100 TTPA PDE6G CACNA2D4 RAB18 NDUFA12 NDUFS2 VPS13B RRM2B RAX2 NDUFS3 TULP1 MAK WFS1 COX15 JAG1 ELOVL4 TYR HADH MT-TK GMPPB CNGA1 DHX38 NDUFA13 ARL13B COX8A DHX16 KLHL7 NDUFS7 PNPLA6 INVS CDHR1 FAM161A LYST APC PITPNM3 KIZ TTC8 LARGE1 CFH CYP4V2 CHM RLBP1 SDCCAG8 CFAP418 PDE6B SDHB UNC119 TTLL5 SDHA MT-TF PRPF6 CNNM4 CNGB3 GPR179 FOXRED1 TUB PRPF4 MT-TQ MTTP EDN3 RP2 PRDX1 RBP3 ERCC6 RPS6KA3 NDUFAF5 BBS4 TRIM32 POMGNT1 OPN1LW CEP19 ECHS1 SDHD CEP120 MT-TS1 ABCA4 PANK2 CA4 FLVCR1 ALDH3A2 ARL2BP KIF11 USP45 PEX1 MT-ATP6 COA8 CLDN19 RAB3GAP2 IFT80 BBS12 BEST1 ELMO2 CFI GDF6 IFT27 TLCD3B IDS NPHP1 MT-ND3 ACOX1 EYS PRPF3 DHDDS NDUFB11 TBC1D20 LRAT PRCD IMPDH1 BBS5 HADHB BBS7 NDUFA2 RPGR PEPD POC1B MT-TH MTFMT IFT74 SNRNP200 EFEMP1 PEX11B PEX14 PAX6 GNAT1 PEX26 TIMP3 RP9 ERCC3 RP1 CTNNB1 AHI1 CBS MT-CO1 PTEN TUBGCP4 CABP4 DYNC2I2 FKRP ZNF408 TRIM37 AIRE RD3 CERKL AGBL5 IFT172 SOX10 MFSD8 MKKS PDHA1 NPHP3 CLCC1 PEX13 SLC7A14 PCYT1A TAF2 KCNJ13 PEX12 ATF6 MCOLN1 WRN MMACHC RMRP SLC6A6 GSS PIEZO2 FLCN MT-CO2 NDUFA9 NCAPG2 MT-TN NDUFAF6 PEX2 PHYH PRPF8 TTC21B MITF HGSNAT PEX19 WDPCP AMACR NRL NDUFA10 PISD NDUFV2 NOTCH2NLC MT-ATP8 LRIT3 GRM6 ZNF513 NDUFV1 CEP164 NDUFA4 MT-CO3 POLR3A ALMS1 NDUFS1 PEX7 GRK1 DYNC2H1 SLC12A6 VPS33A MERTK RIMS1 CLRN1 OPN1MW NEK2 AHR RPGRIP1 CFAP410 RNASEH1 EDNRB RDH5 POMT1 ERCC5 TRPM1 TMEM98 ARSG FLNB PLK4 NDUFS4 MT-TV ERCC4 NDUFAF2 CAV1 CP EPG5 BBS10 SLC24A1 HP_PAROXYSMAL_INVOLUNTARY_EYE_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAROXYSMAL_INVOLUNTARY_EYE_MOVEMENTS NDUFS3 SLC2A1 NDUFS1 NDUFB11 NDUFS2 NDUFAF8 ABCA4 NDUFA6 NDUFA11 NDUFB10 ELOVL4 MT-ND3 NDUFAF3 SLC35A2 PSAT1 NDUFAF4 NDUFS6 NDUFV1 MT-ND1 MT-ND2 NDUFB9 NDUFS7 NDUFAF5 CNGB3 NKX6-2 NDUFA1 NDUFS4 NDUFAF2 NDUFV2 PROM1 NDUFS8 TIMMDC1 NDUFAF1 NDUFB3 TMEM126B PRPH2 FOXRED1 NUBPL HP_UVEAL_MELANOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UVEAL_MELANOMA CYSLTR2 GNAQ SF3B1 DMPK BAP1 BRAF STK11 GNA11 HP_FLAT_CORNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLAT_CORNEA BAZ1B LAT2 STX1A NCF1 GTF2I RFC2 KERA FKBP6 GTF2IRD1 CLDN4 DNAJC30 VPS37D CLIP2 MLXIPL ABHD11 MARK3 PRDM5 BUD23 TMEM270 ELN METTL27 BCL7B TBL2 TGFB2 GTF2IRD2 LIMK1 CLDN3 EIF4H HP_RETINAL_PIGMENT_EPITHELIAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_PIGMENT_EPITHELIAL_ATROPHY CNGB3 PDE6C KIAA1549 C1QTNF5 RLBP1 RPGR ABCA4 PDE6H RPE65 TIMP3 IMPG2 PROM1 ELOVL4 RS1 SPATA7 RDH11 IDH3A CRX ALDH3A2 BEST1 CYP4V2 GNAT2 TOPORS CNGA3 LCA5 LRAT TRNT1 ALMS1 MFRP VCAN PRPH2 ATF6 TUB SNRNP200 CDHR1 HP_IRIS_HYPOPIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRIS_HYPOPIGMENTATION IMPG2 AMACR UBE3A HERC2 BEST1 SPEN AP3D1 ADGRV1 KANSL1 ESPN MMP23B CDH23 MAGEL2 PCDH15 PRPH2 OCA2 SNRPN USH2A HPS1 KCNAB2 GPR143 XYLT2 TYR LYST BLOC1S3 MYO7A UBE4B CEP78 MYO5A HPS4 NDN MC1R SNORD116-1 HARS1 SKI BLOC1S6 RERE PRKCZ HSPG2 SOX10 EPG5 USH1C SLC45A2 TYRP1 CASZ1 PRDM16 PDZD7 PWRN1 HPS5 MKRN3 LUZP1 IMPG1 PWAR1 PITX2 AP3B1 CIB2 MLPH DTNBP1 NPAP1 ATP10A ARSG MT-TS2 RAB27A BLOC1S5 USH1G HPS6 GABRD PDPN SNORD115-1 WHRN CLRN1 HP_CHORIORETINAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHORIORETINAL_DYSPLASIA COX7B DAG1 B3GALNT2 KIF11 TUBGCP4 LARGE1 FKTN POMT2 TUBGCP6 CRPPA RXYLT1 NDUFB11 OCRL POMT1 FKRP POMGNT1 HCCS POMGNT2 B4GAT1 COL4A1 POMK HP_LACRIMAL_GLAND_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACRIMAL_GLAND_HYPOPLASIA FGF10 SOX10 FGFR3 FOXL2 FGFR2 HP_BONE_SPICULE_PIGMENTATION_OF_THE_RETINA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BONE_SPICULE_PIGMENTATION_OF_THE_RETINA ARL3 KIAA1549 VPS13B ZNF513 LZTFL1 FSCN2 ABCA4 MKS1 FAM161A RPE65 CNGB1 IMPG2 RP9 PRPF31 FLVCR1 ARSG SPATA7 IDH3A CRX USH2A PISD TTC8 RP1 PCARE POMGNT1 CLRN1 CFAP418 EYS RHO LCA5 LRAT TULP1 IMPDH1 PRCD PDE6A RP1L1 BBS9 MFRP CNGA1 CRB1 PROM1 CLCC1 SNRNP200 HP_UNCONTROLLED_EYE_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNCONTROLLED_EYE_MOVEMENTS ADORA2A GABRG2 JRK POMGNT1 CACNA1H SLC2A1 GABRB3 GABRA1 HP_HYPOPLASIA_OF_THE_FOVEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_FOVEA PAX6 CNGB3 PDE6C RPGR GPR143 PDE6H CACNA1F UGP2 TYR BLOC1S3 GDF3 OCA2 GDF6 IKBKG GNAT2 SLC45A2 CNGA3 ATF6 HPS4 MC1R HPS5 BLOC1S5 WT1 NEU1 SLC38A8 CFAP418 DCT SLC24A5 HP_MACULAR_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULAR_DYSTROPHY CCNQ CDH3 TIMP3 MT-TE PROM1 MYO5A SYCE1 MT-TL1 CFH RP1L1 IMPG1 CHST6 PEX1 BBS5 MT-TK ELOVL4 BEST1 MFSD8 CFI PRPH2 IMPG2 EFEMP1 HP_RETINAL_TELANGIECTASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_TELANGIECTASIA TSPAN12 MT-ND4 ZNF408 MT-CYB MT-ND6 NDUFS2 ENG FRG1 CTNNB1 PCNA MT-CO1 MT-CO3 GDF2 NDP MT-ATP6 FZD4 MT-ND2 MT-ND5 DNAJC30 MT-ND4L CTC1 STN1 LRP5 ACVRL1 MT-ND1 SMAD4 HP_OPTIC_DISC_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_DISC_HYPOPLASIA APC SALL4 FANCB HESX1 EXOC2 SNAP29 FOXG1 NFIX DDHD2 NR2F1 TRIT1 MAFB HNRNPU POLR3A PAX6 ARSL SRD5A3 GDF3 GDF6 CHN1 HP_PERIPHERAL_RETINAL_DEGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_RETINAL_DEGENERATION RS1 EFEMP1 COL2A1 KCNJ13 POU3F4 CFH CFI HP_IMPAIRED_SMOOTH_PURSUIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_SMOOTH_PURSUIT ATXN1 MAN2B1 FGF14 SYT14 KCND3 PEX10 TMEM216 THG1L INPP5E ATXN3 ATXN10 ELOVL4 ITPR1 STT3A PDHB GNB1 ATXN2 SYNE1 TBCD EEF2 SPTBN2 STXBP1 PAFAH1B1 PLA2G6 XRCC4 MRE11 WARS2 POLR3B NOP56 CACNA1A RARS1 TULP1 RFC1 PRNP FTL SACS ATXN8OS TSEN54 DPM2 HP_VITREORETINOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VITREORETINOPATHY TSPAN12 LRP5 COL9A1 COL11A1 COL18A1 FZD4 ZNF408 ERBB3 CTNNB1 CAPN5 NR2E3 P3H2 COL2A1 COL9A2 LOXL3 NDP COL9A3 CRB1 VCAN KCNJ13 HP_POSTERIOR_SUBCAPSULAR_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_SUBCAPSULAR_CATARACT ARL3 ZNF408 ARL2BP OFD1 IDH3B RPE65 IMPG2 SPRTN SPATA7 ADAMTS18 CNBP RBP3 POLR3GL NF2 EYS LCA5 LRAT DMPK TULP1 IMPDH1 PDE6A ALMS1 GJA8 OPA3 OAT REEP6 TONSL CHMP4B HP_GRANULAR_MACULAR_APPEARANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GRANULAR_MACULAR_APPEARANCE PROM1 LCA5 LRAT SPATA7 CFH EFEMP1 CFI RPE65 HP_MONOCHROMACY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MONOCHROMACY ATF6 CNGB3 OPN1LW PDE6C OPN1MW GNAT2 CNNM4 RPGR PDE6H CNGA3 NBAS HP_OPTIC_NERVE_COMPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_NERVE_COMPRESSION TGFB1 CLCN7 TNFSF11 TNFRSF11A TCIRG1 SNX10 CA2 HP_HORIZONTAL_PENDULAR_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HORIZONTAL_PENDULAR_NYSTAGMUS LRP5 NUP62 CNGB3 ADAR MT-ATP6 HP_RETINAL_PIGMENT_EPITHELIAL_MOTTLING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_PIGMENT_EPITHELIAL_MOTTLING CNGB3 RDH5 PDE6C CACNA2D4 RLBP1 RPGR CTNS PDE6H ABCA4 PRPH2 RPE65 PROM1 ELOVL4 SPATA7 PISD MT-ATP6 CFH CYP4V2 GUCY2D SELENOI GNAT2 CNGA3 RHO LCA5 LRAT SLC6A6 VPS41 ERCC8 CFI DHX16 ATF6 GUCA1A EFEMP1 HP_CENTRAL_HETEROCHROMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_HETEROCHROMIA PTEN SALL4 AKT1 CHN1 MAFB PNPLA6 HP_ANTERIOR_CHAMBER_SYNECHIAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTERIOR_CHAMBER_SYNECHIAE FOXC1 ZEB1 PITX2 ATOH7 IL2RB CD247 GRHL2 RPE65 SPATA7 B3GLCT VSX1 FOXE3 STAT4 PTPN22 ANKRD55 LCA5 OVOL2 LRAT PAX6 PTPN2 CYP1B1 NDP MIR204 COL18A1 IL2RA COL8A2 HP_ATTENUATION_OF_RETINAL_BLOOD_VESSELS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATTENUATION_OF_RETINAL_BLOOD_VESSELS ARL3 ABCA4 IFT172 MKS1 PDE6H BEST1 SPATA7 ARL6 TTC8 PCARE MVK CNGA3 BBS1 EYS GGCX AIPL1 LCA5 PDE6G CERKL SLC6A6 RP1L1 BBS9 HLA-A USP45 CNGA1 RTTN PROM1 CDHR1 CNGB3 RDH5 PDE6C KIAA1549 ZNF513 RPGR FSCN2 IDH3B RPE65 IMPG2 ROM1 FLVCR1 IDH3A CCDC28B USH2A CLRN1 GNAT2 TOPORS RHO CFAP418 PRPH2 LRAT PRCD NMNAT1 PDE6A RPGRIP1 RGR RLBP1 CLCC1 ATF6 SNRNP200 HP_PUNCTATE_OPACIFICATION_OF_THE_CORNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PUNCTATE_OPACIFICATION_OF_THE_CORNEA CHST6 PSMB8 CYP4V2 KRT12 UBIAD1 HP_CONGENITAL_BLINDNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_BLINDNESS SARDH XRCC4 LRAT NSMCE2 ATIC RD3 LRP5 CEP290 HP_HYPOPIGMENTATION_OF_THE_FUNDUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPIGMENTATION_OF_THE_FUNDUS MIR140 BLOC1S6 SLC25A15 GPR143 MTTP PRPH2 KIF7 SOX10 TSC2 SLC45A2 EPG5 GUCY2D TYR GGCX TSC1 CACNA1F MC1R PAX3 MITF COL4A1 IFNG EDNRB OCA2 GUCA1A PRPF8 HP_RETINAL_NONATTACHMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_NONATTACHMENT PTEN PRPH2 BEST1 AKT1 ATOH7 IMPG2 IMPG1 HP_VITREOUS_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VITREOUS_HEMORRHAGE TSPAN12 LRP5 FZD4 RB1 SF3B1 NDP ZNF408 BAP1 BEST1 CYSLTR2 GNAQ CTNNB1 RS1 CAPN5 PROC GNA11 HP_TRACTIONAL_RETINAL_DETACHMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRACTIONAL_RETINAL_DETACHMENT TSPAN12 LRP5 FZD4 CTNNB1 NDP ZNF408 VCAN HP_SLOW_DECREASE_IN_VISUAL_ACUITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLOW_DECREASE_IN_VISUAL_ACUITY TRAF7 PDGFB MT-ND4 MT-CYB MT-ND6 NDUFS2 FA2H BAP1 TERT CTNNB1 PRPH2 TGFBI MT-CO1 MT-CO3 PIK3CA NF2 GUCY2D SMARCE1 RP1L1 SUFU SMARCB1 MT-ATP6 DNM1L MT-ND2 MFN2 RAX2 MT-ND5 DNAJC30 MT-ND4L MT-ND1 BRAF GUCA1A SMO AKT1 HP_LACRIMAL_DUCT_APLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACRIMAL_DUCT_APLASIA FGFR3 FRAS1 SIX1 EYA1 GRIP1 FREM2 FGFR2 FGF10 HP_LIMITED_EXTRAOCULAR_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_EXTRAOCULAR_MOVEMENTS DMPK HSD17B4 VAMP1 LAMB2 COLQ NDUFS2 TUBB2B SCO2 CHP1 VMA21 NDUFAF3 NDUFB8 SURF1 HP_PERIPAPILLARY_CHORIORETINAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPAPILLARY_CHORIORETINAL_ATROPHY NRL CFH TEAD1 EFEMP1 CFI HP_CORNEAL_OPACITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORNEAL_OPACITY NSD2 TENT5A PEX6 PITX2 GTF2I KIF11 WDR73 NRAS BUB3 COLEC10 BUB1B NTRK1 LCAT POMT2 GRHL2 TMEM231 ATP7B GTF2IRD1 FKRP PRDM12 PEX1 ESCO2 ANKRD55 OVOL2 SC5D RAB23 PTPN2 GNAS NDP TCTN3 PDGFRB PEX26 IDUA OCLN MBTPS2 TENM3 IL2RA APOA2 SLC4A11 SLC20A2 IDS POMK YAP1 HMX1 DAG1 CTNS CENPF ATOH7 TCTN1 FOXE3 GALNS MAN2B1 LARGE1 PEX3 CTSA BMP4 KRAS NELFA TRAPPC2 APOA1 TGFBI GNPTG NDUFB11 ZNF469 PEX10 PEX12 VSX1 CSPP1 EPHX2 FLNB SUMF1 COX7B CHST6 PLXND1 ERCC8 METTL27 TBL2 PIGL ALDH18A1 EP300 COL17A1 CRYGD GJB3 ABCA1 PAX6 GLA NGLY1 OTUD5 FOXC1 GLB1 IL2RB PIGN FIG4 GUSB CTBP1 VSX2 PEX16 PEX5 ALDH3A2 MMP1 PORCN PLCB3 CYP1B1 VAC14 WT1 XPA COL18A1 ZMPSTE24 ARSB COL4A1 RPGRIP1L POMGNT2 NOD2 LMNA STS TMEM67 IKBKG NCF1 RFC2 ERCC4 B9D1 ELP1 ERCC2 HCCS XPC FUCA1 GBA POMT1 DNAJC30 B3GLCT POMGNT1 STAT4 MAB21L2 KRT12 TAT DDB2 PTPN22 PEX19 XPR1 NAGA MMP2 HRAS NEU1 FGFR1 PCSK9 BCL7B POLA1 OCRL TXNDC15 JAM2 PIGG B4GAT1 COL8A2 CHUK TMEM237 CHRDL1 TMEM107 PXDN KDELR2 SOX2 LIFR COL11A1 BUB1 MCOLN1 CRYBA4 PEX11B SREBF1 CLIP2 GJB4 SMARCAL1 ERCC5 DYRK1A ABHD11 CRYBB1 PDGFB GJB2 CPLX1 ELN SLC29A3 TRPV3 RAX RPGRIP1 APOB KRT5 EIF4H NCAPG2 CRYAA LAT2 GHR DST GJA1 STX1A CRYGC GNPTAB FKTN B9D2 CRPPA JAG1 GJA8 APOE BUD23 RIPK4 PITX3 LRP5 MKS1 SCARF2 PSMB8 LIMK1 CLDN3 NLRP3 CREBBP PEX2 FRAS1 PRDM5 PIK3R1 BAZ1B TMEM216 ST14 ZEB1 MMP14 B3GALNT2 KRT14 KERA ATAD3A POLR3A CYP4V2 TBCK CEP57 CRYBB2 FERMT1 CC2D2A LIPC ERCC3 PPP1R17 DHCR7 SLC4A4 UROS PEX13 MYORG MAF GTF2IRD2 PCYT1A TBCE CD247 PEX14 LDLR FKBP6 COL7A1 LETM1 CLDN4 VPS37D TRIP13 MLXIPL MT-CYB TCTN2 ASAH1 ERCC6 REV3L TWIST2 UBIAD1 TMEM270 TBX1 RXYLT1 LTBP2 KDSR AIRE SLC25A24 CEP290 HP_UNDETECTABLE_VISUAL_EVOKED_POTENTIALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNDETECTABLE_VISUAL_EVOKED_POTENTIALS NDUFS4 RAB3GAP2 COX6B1 RDH11 PRPS1 ZNHIT3 PDSS2 COQ2 HP_REMNANTS_OF_THE_HYALOID_VASCULAR_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REMNANTS_OF_THE_HYALOID_VASCULAR_SYSTEM BCOR PAX6 NF2 NDP ATOH7 CRPPA HP_CONGENITAL_PTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_PTOSIS BRCC3 DNA2 ZFHX4 TRIO IGF1 HP_RETINAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_DYSPLASIA LARGE1 DAG1 FLNB B3GALNT2 FOXE3 INPP5E POMGNT2 FKTN POMT2 CRPPA NDUFB11 KIF11 POMT1 FKRP HCCS RXYLT1 POMGNT1 COX7B NDP B4GAT1 PDE6D TUBB COL4A1 POMK HP_GAZE_EVOKED_HORIZONTAL_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GAZE_EVOKED_HORIZONTAL_NYSTAGMUS CACNA1A SCN1A UROC1 SACS CACNA1G THG1L KCND3 ITPR1 BEAN1 ATP1A2 GCH1 GRM1 PRRT2 PAX7 SYT14 SOX3 HP_PROGRESSIVE_VISUAL_FIELD_DEFECTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_VISUAL_FIELD_DEFECTS RHO RDH5 PRPH2 RLBP1 PRPF3 BRAF CTNNB1 HP_HYPOPLASTIC_IRIS_STROMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_IRIS_STROMA PITX2 SALL4 FOXC1 MITF CHN1 MAFB PAX3 PAX6 HP_PERIPHERAL_VISUAL_FIELD_LOSS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_VISUAL_FIELD_LOSS RDH5 GUCY2D ZNF513 POU3F4 RPE65 CNGB1 DLAT CWC27 SPATA7 ABCA4 CRX MYOC AGBL5 RHO LCA5 PRPH2 LRAT IDS SLC6A6 SDHA RNU4ATAC PDE6A SEMA4A CNGA1 CYP1B1 RLBP1 PROM1 SH3TC2 HP_DECREASED_CORNEAL_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CORNEAL_REFLEX RETREG1 KIF1A ZFHX2 ALG11 CLTCL1 WNK1 ELP1 NTRK1 SCN9A LIFR HP_ABNORMALITY_OF_MACULAR_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_MACULAR_PIGMENTATION CACNA1F VPS13B ABCA4 CFHR1 RPE65 PROM1 ELOVL4 SPATA7 PAX2 RD3 CRX PCYT1A OCA2 TMCO1 CFH IFT74 OPN1LW CFAP418 IMPG1 CFHR3 LCA5 LRAT APOE HMCN1 CNGB3 OPN1MW MMACHC RAB28 MFSD8 MC1R CFI RAX2 ADAR SLC38A8 PRPH2 CDH3 EFEMP1 CTNNA1 RIMS1 HP_JERKY_OCULAR_PURSUIT_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JERKY_OCULAR_PURSUIT_MOVEMENTS TTBK2 KCNC3 PRNP SPTBN2 GBA2 HP_PRIMARY_CONGENITAL_GLAUCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMARY_CONGENITAL_GLAUCOMA LTBP2 RPS19 TEK ADAMTSL1 LMX1B CYP1B1 HP_PERIPHERAL_OPACIFICATION_OF_THE_CORNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_OPACIFICATION_OF_THE_CORNEA CHRDL1 GHR APOE LIPC MMP2 LDLR KERA PPP1R17 SLC29A3 PCSK9 ALDH18A1 APOA2 APOB EPHX2 HP_ABNORMAL_IRIS_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_IRIS_PIGMENTATION HERC2 PEX6 GTF2I MAFB GTF2IRD1 BEST1 PEX1 ADGRV1 CPAMD8 KANSL1 MMP23B PEX26 EDNRB SNAI2 UROC1 LMX1B SNRPN USH2A HPS1 ACTB SPEN PEX3 XYLT2 GPR143 PRKAR1A PEX10 PEX12 BLOC1S3 MYO7A ACTG1 CEP78 HPS4 PAX3 SOX10 MC1R NDN METTL27 MAPK1 TBL2 SLC24A5 OCA2 AKT1 MAGEL2 RERE PRKCZ PEX16 PEX5 EPG5 USH1C SLC45A2 PTEN PDZD7 TYR MYO5A LUZP1 PITX2 NCF1 RFC2 AP3B1 TP63 ELP1 MLPH DTNBP1 EDN3 DNAJC30 PEX19 ARSG PDE4D BCL7B UBE3A DCT MITF WHRN CHN1 CHRDL1 IMPG2 AMACR KIT PEX11B CLIP2 AP3D1 ABHD11 ESPN CDH23 ELN PCDH15 PRPH2 EIF4H MYH11 LAT2 STX1A KCNAB2 SOS1 PNPLA6 LYST UBE4B MLXIPL KITLG BUD23 SALL4 SNORD116-1 HARS1 LIMK1 CLDN3 SKI PEX2 BLOC1S6 BAZ1B C1QTNF5 HSPG2 GATA1 TYRP1 CASZ1 PRDM16 PWRN1 HPS5 PEX13 GTF2IRD2 MKRN3 IMPG1 PWAR1 PEX14 CIB2 FKBP6 GNAQ CLDN4 NPAP1 VPS37D ATP10A MT-TS2 RAB27A BLOC1S5 TMEM270 USH1G HPS6 PAH GABRD PDPN SNORD115-1 CLRN1 HP_APLASTIC_HYPOPLASTIC_LACRIMAL_GLANDS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASTIC_HYPOPLASTIC_LACRIMAL_GLANDS FGFR3 FGF10 SOX10 FOXL2 FGFR2 SLC25A24 HP_ABNORMAL_RETINAL_VASCULAR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RETINAL_VASCULAR_MORPHOLOGY SDHD PROM1 ZNF408 GTF2I MYD88 ABCA4 ENG BEST1 PCARE CA4 GTF2IRD1 LRP5 ARL2BP PCNA ARL6 MT-ATP6 RTL1 SELENOI MVK VHL PDE6G HEXA NDP PDE6A DNMT3B OFD1 ESS2 HSD11B2 STN1 IVNS1ABP IGFBP7 HEXB RTTN GLB1 IDH3B EYS CENPF MT-ND6 MT-ND4L NDUFS2 PRPF3 CTSA DARS1 RPE65 DHDDS IMPG2 TMEM127 TBX1 SDHB FLVCR1 CCDC28B GNAT2 PRCD LOXL1 IMPDH1 LRAT RET RPGR METTL27 COL4A1 TBL2 NR2E3 KIAA1549 ACVRL1 DGCR8 PDE6B IDH3A SMCHD1 SAG RHO SNRNP200 RGR NF1 PAX6 PRPF31 FZD4 SDHC CRX PDE6H KRIT1 FRG1 PRPH2 GALC TOPORS MT-CO3 BBS2 GUCA1B CNGA3 BBS1 AIPL1 LCA5 F12 NEK1 DLST RP1L1 WT1 IFT88 MEG3 CCM2 USP45 MT-ND1 RP9 MAX PDE6C IKBKG NCF1 REEP6 FSCN2 RFC2 SPATA7 CNGB1 ARHGEF18 SCAPER RP1 DNAJC30 USH2A SEMA4A DNMT3A GDF2 CERKL AGBL5 TREX1 NEU1 BCL7B RLBP1 CYP27A1 CLCC1 SLC7A14 ROM1 MDH2 SEC24C ARL3 MT-CYB ENPP1 IFT172 MKS1 ASAH1 COMT CAPN5 JMJD1C LRRC32 CLIP2 MYOC ABHD11 GGCX LPL MT-ND5 SLC6A6 MT-ND2 DGCR2 ELN TMEM231 HLA-A CNGA1 CYP1B1 EIF4H CDHR1 ETHE1 LAT2 CRB1 STX1A TULP1 MAK SMPD1 PRPF8 HGSNAT NRL IFT140 MT-CO1 NOD2 AHI1 SLC37A4 MLXIPL KIF1B BUD23 DHX38 DGCR6 NMNAT1 MT-ND4 RPGRIP1 PDCD10 HIRA KLHL7 ZNF513 LIMK1 GPIHBP1 CLDN3 APOC2 BAZ1B ABCC6 CTNNB1 KIZ TTC8 MERTK UFD1 CLRN1 NEK2 AHR BBS9 GTF2IRD2 GP1BB PRPF6 SMAD4 TSPAN12 CNGB3 RDH5 EPAS1 SDHA FH DUX4 RDH12 CLCNKB CFAP418 TUB PRPF4 FKBP6 ARVCF GNAQ CLDN4 VPS37D SERPINC1 SLC25A11 RP2 RBP3 SDHAF2 FAM161A RREB1 G6PC1 TMEM270 GM2A PSAP POMGNT1 CTC1 DLK1 ATF6 HP_ABNORMALITY_OF_THE_VASCULATURE_OF_THE_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_VASCULATURE_OF_THE_EYE TNFRSF13B SDHD PROM1 GTF2I IARS2 ENG UROS ERF PCARE ERCC8 ARL6 RTL1 SELENOI VHL PDE6G HEXA GNAS NDP CCR1 OFD1 MBTPS2 STN1 IVNS1ABP IGFBP7 IDH3B CENPF FAS NDUFS2 ERCC6 NLRP3 CTSA DARS1 STX16 TGFBI RPE65 IMPG2 SDHB ICOS MT-ATP6 LBR TBL2 KIAA1549 ACVRL1 IDH3A SAG RGR SREBF1 NF1 PAX6 PRPF31 SDHC TP63 CRX PDE6H PRPH2 MANBA TOPORS MT-CO3 GUCA1B BBS1 F12 RET FZD4 RP1L1 IFT88 MEG3 CCM2 STAT4 USP45 ERCC2 FOXC1 HLA-DRB1 MAX PDE6C NCF1 REEP6 FSCN2 BTK ERCC4 SPATA7 CR2 CNGB1 ARHGEF18 DNAJC30 GSN USH2A UROD SEMA4A DNMT3A XPA CD79A ERAP1 TREX1 AEBP1 PDE6A BCL7B GTF2H5 ATM PRPF3 RNF168 ROM1 ANO10 MDH2 SAMD9 SEC24C ARL3 MT-CYB MKS1 COMT IL23R NEU1 JMJD1C LRRC32 IGLL1 ERCC1 ERCC5 MPLKIP PLG CERKL FUCA1 ELN CYP1B1 IGSF3 EIF4H ETHE1 CRB1 TULP1 MAK SMPD1 MT-ND6 MT-CO1 USB1 RAG1 NOD2 PSMB9 CNGA1 HLCS SLC37A4 KIF1B TARS1 BUD23 DHX38 NMNAT1 KAT6A RPGRIP1 HIRA KLHL7 PSMB8 CLDN3 FGF10 TBX1 IGHM MT-ND4 ABCC6 HSD11B2 IL10 KIZ TTC8 COL4A1 RLBP1 IKBKG GTF2E2 FERMT1 PEX6 LRBA MAB21L1 LRP5 PRPF6 CNGB3 EPAS1 FH RDH12 CLCNKB CFAP418 TUB PRPF4 FBN1 ARVCF MTTP FOXC2 XPC SERPINC1 SLC25A11 RP2 RHO RBP3 SDHAF2 FAM161A RREB1 G6PC1 TMEM270 PSAP POMGNT1 MT-ND4L CTC1 SMCHD1 BTD ZNF408 CD19 MYD88 ABCA4 UBAC2 BEST1 CA4 GTF2IRD1 ARL2BP PCNA MVK MEFV DNMT3B ESS2 KLRC4 HEXB RTTN GLB1 C4A EYS DHDDS TMEM127 FGFR2 FLVCR1 DNASE1L3 CCDC28B NLRP1 GNAT2 PRCD LOXL1 IMPDH1 FGFR3 LRAT MASP1 RPGR SHMT2 RNF113A TNFRSF13C METTL27 DDB2 NR2E3 TLR4 DGCR8 PDE6B SCN9A COL17A1 SNRNP200 GLA PAX1 KRIT1 FRG1 GALC BBS2 MMP1 CNGA3 CD79B AIPL1 LCA5 GATA1 NEK1 DLST ERCC3 SLC39A4 WT1 LRRC8A TNFRSF1A IL12A-AS1 MT-ND1 RP9 SETX TKT RFC2 AIRE SCAPER RP1 IKZF1 PSMB4 PIK3R1 GJB6 GDF2 AGBL5 RAG2 CYP27A1 CLCC1 SLC7A14 ENPP1 AP1B1 IFT172 ASAH1 CAPN5 MAPT HLA-B CLIP2 MYOC WAS ABHD11 GGCX LPL MT-ND5 GJB2 SLC6A6 TFRC MT-ND2 DGCR2 TMEM231 HLA-A CDHR1 LAT2 STX1A PRPF8 HGSNAT BTNL2 NRL IFT140 AHI1 MLXIPL DGCR6 PDCD10 ZNF513 LIMK1 GPIHBP1 APOC2 POLH BAZ1B BLNK CTNNB1 IL12A WIPF1 VPS33A MERTK UFD1 CLRN1 STX11 NEK2 AHR BBS9 GTF2IRD2 GP1BB SMAD4 TSPAN12 RDH5 SDHA DUX4 DKC1 RNF125 FKBP6 COL7A1 GNAQ TCF3 CLDN4 VPS37D GM2A DLK1 ATF6 HP_ABNORMALITY_OF_THE_EXTRAOCULAR_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_EXTRAOCULAR_MUSCLES RRM2B PHOX2A TUBB3 TYMP KIF21A POLG TUBB2B MATR3 HP_ABNORMALITY_OF_THE_PALPEBRAL_FISSURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PALPEBRAL_FISSURES ATR ATP7A RNU4ATAC A2ML1 CCDC32 SATB1 PIGA COLEC10 BUB1B FAT4 SH3PXD2B CACNA1A HERC2 PUS7 GATAD2B KMT2D BBS1 DPM1 MAP2K2 HNRNPK APC KANSL1 TAF13 TNRC6B RERE WDFY3 SMAD4 PPP2R5D RPS6KA3 PHC1 CDK19 CENPJ DHCR24 ADAMTS3 SMOC1 KAT5 METTL5 SLC13A5 BRAF PYCR2 NAA10 ANKRD11 CBL PEX3 MAP2K1 NEXMIF CDK13 SIN3A PEX12 SOS2 AKT1 SC5D EZH2 CNKSR2 CSGALNACT1 NXN KCNMA1 TUBB3 SOS1 GABRB2 ERCC4 NTRK2 CHST14 MIR140 TRAK1 HUWE1 FIG4 NRAS BBS9 KCNJ2 CTBP1 NOTCH3 ACTB SLC19A3 OTUD6B SLC1A2 SYP NDN TRAPPC14 SHH NALCN PEX5 SALL4 DLG3 SCAPER STXBP1 PAK3 VAC14 CEP290 HNRNPU ROR2 EFTUD2 MEG3 GPC3 PHIP MED12 PEX7 EHMT1 MAPK8IP3 MTOR PQBP1 MED13 OSGEP NCF1 CREBBP CERT1 FOXL2 KIF15 BRCA1 ZIC2 PITX1 DPH1 PEX19 RRAS2 AMMECR1 CLP1 UGDH YWHAE SNRPN ATP6V1A DHODH SMARCA2 CD96 UBE2A FLNA BCL7B PTEN UBA5 FTSJ1 CHN1 ACSL4 ZNF711 ADNP JARID2 TBL1XR1 MID2 DNM1 BICRA SNAP29 UBE3B PPP1R21 B3GAT3 BUB1 COMT PIGB RAB3GAP2 DONSON PDE4D MAPRE2 ZMIZ1 ALG2 DVL1 ATRX SLC2A10 DCHS1 BRCA2 CEP152 COG1 FGFR2 RECQL4 PGAP1 FBXL4 PTCH1 CDK10 PGAP2 KIAA1109 NSD1 GSC SHOC2 ELN MAGEL2 EIF4H LMX1B PACS1 HRAS USP27X POLR1A PACS2 NONO JAG1 SVBP RRAS CDH11 CYFIP2 TOR1A LIG4 AFF4 TANC2 FGFR1 MED27 CCDC115 BPTF POLR1B AARS1 BUD23 SCN3A FBN1 HHAT HIRA SNORD116-1 DLK1 CDK5RAP2 SLC39A13 GLI2 DACT1 CLDN3 HNRNPH2 EEF1A2 PMM2 TBX1 SETD5 ODC1 FANCB IGF1R RBPJ SIM1 TBCD BCL11B TBX15 POLR3GL TCF4 WWOX SDCCAG8 KAT6B ZMPSTE24 SMC1A PWRN1 KDM5B AUTS2 DPYSL5 PIGO DISP1 CASK ERMARD KCNN3 PHF6 USP9X CFAP418 MKRN3 DOCK3 PWAR1 QRICH1 ADAT3 ATP6V1E1 CLCN4 ARHGEF2 GLE1 AHDC1 POLR1C GRIN2D KIFBP FGF10 PPP3CA SEC24D VPS13B EIF5A CEP57 FGFR3 LMNA EDEM3 TMEM270 TRIM32 PGAP3 MN1 CEP19 RAF1 CHD1 PAX3 KMT2C RAD51C NDUFS4 RPL10 SMPD4 GPC4 KIF11 BUB3 STRA6 RIT1 BMP2 PIGL POLR3A POR DEAF1 PEX1 SLC25A24 ABCC9 ESCO2 DOK7 KMT2A ZIC1 ATRIP BBS12 CHRNG CAMK2A ESS2 PEX26 ZNF41 TRIP12 NFIX RTTN TRIO NPHP1 KDM1A ZNF81 NSDHL TCOF1 FGD1 STAG2 TELO2 SLX4 ATP6V0A2 CHST3 NELFA RAC1 BBS5 RNF135 MGAT2 BBS7 MASP1 EED ARX ARID2 METTL27 MAPK1 SIX3 ARID1B MADD MAP3K7 CELF2 CUL4B MUSK TSR2 PPP1R12A HS2ST1 PPP1R15B HCN1 ZC4H2 CWC27 TRAIP ZBTB20 SON SASS6 COLEC11 UMPS MVK DOCK6 ASPM SPECC1L SUZ12 PRRX1 TFAP2A CDC42 GJA1 RLIM KDM4B OCA2 DPYD ACTL6A ARV1 RFC2 AP3B1 WNT5A PIGW ANK1 KCNJ5 UBE2T TAF1 B3GLCT HS6ST2 EBP FGF13 KCNA2 SZT2 CCNK CRKL FOXP1 IFT172 RAD51 BCORL1 NOTCH2 PSMD12 ORC6 ZEB2 DDX6 PGM3 PIGG TGFB3 COG7 RAB11B KCNB1 KMT2E ARHGEF6 CLIP2 DMXL2 THOC6 FANCE KCNE5 ABHD11 MAFB CKAP2L MEGF8 MYH3 PIGT DGCR2 KDM6A PIEZO2 MFSD2A WAC FANCI CEP135 CENPT STX1A CCDC22 DDR2 GABRA5 MRAS WDPCP EP300 FANCD2 UQCC2 CACNA1B DNMT3A FANCL EXOC2 ASXL1 ANKRD17 SETD2 OFD1 IQSEC2 SETBP1 YY1 PIGY TMEM107 CLTCL1 DHDDS STEEP1 ATAD3A RIN2 SCN8A KNL1 UFD1 IL1RAPL1 MAF YWHAG RIPK4 SYNGAP1 LZTR1 GALNT2 FGF12 IFT57 ZSWIM6 FGF8 GTF2IRD2 TBX6 GP1BB TMEM237 HSPG2 STAC3 SKI TTC8 DYRK1A CHD8 ERCC6 CIT CHD4 VPS37D BRF1 NUS1 MECP2 AP3B2 PCNT NARS1 GPC6 HBB EFEMP2 KCTD1 FOXG1 SNX14 BGN LMNB1 PEX6 RTL1 GTF2I SATB2 KRAS ARL6 INTS1 SLC45A1 MYCN AP4E1 MAN1B1 MEF2C RBBP8 EXOSC2 SPOP ANKLE2 DDB1 SF3B4 DNAJC21 SYNJ1 MCTP2 C2CD3 MED25 UBR7 SLC9A7 SPTBN1 FAM20C TXNL4A RAB18 FRMPD4 PEX10 PTCHD1 WASF1 EFNB1 GRIA4 CENPE B9D2 CLTC CHAMP1 ACTL6B TBL2 MCPH1 RFWD3 PYCR1 SYT1 LRP4 MEIS2 NF1 FBXO11 GABRA2 OTUD5 ERF LARP7 IGBP1 PEX16 PTPN23 SMS TUBB SMO PPP1CB PIGN UNC80 DVL3 CACNA1G SOX6 MED12L RAI1 HPDL PUF60 DNAJC30 MYLPF SALL1 PPP2R1A CDH2 CEP55 HDAC4 BCR MPDZ BBIP1 DMD KIF14 OCRL AGO2 TASP1 SETD1A WDR62 SEPTIN9 COL11A1 DYNC1I2 SEC24C PURA LZTFL1 PTPN11 POLR1D CAMK2G GMNN SOX11 JMJD1C ORC1 TLK2 ACTG1 RAB39B DYNC1H1 CPLX1 GDI1 NOVA2 KDM5C EIF2AK3 ALG13 GLI3 ATP6V1B2 NSUN2 FANCA HERC1 FHL1 PARS2 STIL RDH11 PLK4 CNOT3 PLOD1 TGFB2 CEP63 SCARF2 TCF20 TFAP2B SOX5 MYOD1 MOGS KAT8 LRP2 MYMK AP1S1 PHF8 NBN TBCK GPKOW RAPSN PEX2 UPF3B SIAH1 RBM10 ZNF462 KATNB1 SLC29A3 ALX4 MED13L FANCF ERCC1 TBR1 PEX14 ZNF292 XRCC4 ARVCF LETM1 KCNH1 NCAPD3 COPB1 TRMT1 COL11A2 NECTIN1 RREB1 P4HB FZD2 WASHC5 BBS4 TRAPPC4 BBS2 FBXW11 RBMX NSD2 FIBP GAD1 MYT1L DLX4 RPS28 PIK3CA CHRNA7 GTF2IRD1 KIF7 SPEN SLC6A17 NTNG1 FLII GATA4 CAMTA1 TENM3 PIGV TRMT10A ALG14 IFT27 MKS1 BCOR SLC12A2 KPTN AGTR2 LDHD ADARB1 GABRG2 APC2 NECAP1 CNOT2 TMCO1 BRPF1 DGCR8 NUAK2 IFT74 CHD7 CDK6 ZNF148 XRCC2 ABAT ABCA5 SETD1B PKDCC TOE1 NFIB PCLO RHOA ALDH6A1 SOX9 CTNND2 DSE COL5A1 ASPH AFF3 FANCC TP63 PDGFRB HBA2 MSL3 POLA1 FLCN MKKS SEMA5A MAD2L2 PALS1 C12orf57 ADAMTSL2 AMPD2 LIFR PEX11B SEMA3E FGF3 TTC37 PCGF2 COPB2 WDR35 DYNC2LI1 BMP1 PRMT7 LAT2 MINPP1 ASXL3 SPRED1 TNNI2 TUBGCP2 MLXIPL TSPEAR DGCR6 TSPAN7 BCL11A LIMK1 TWIST2 TRRAP BAZ1B HSD17B4 PHOX2B NR2F1 DPF2 RNF2 ADAMTS2 GATA1 EBF3 SPART NTNG2 HBA1 DHCR7 PEX13 FLI1 PAFAH1B1 BMPR1A RPS19 VPS35L FKBP6 CLDN4 RASA2 NPAP1 HTT TRIP13 FANCG HCFC1 DALRD3 CTU2 KLF13 BRIP1 UBE3A PIK3R2 SNORD115-1 FANCM PALB2 BBS10 HP_RETINAL_FOLD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_FOLD TSPAN12 LRP5 NDP PRSS56 FZD4 ZNF408 ATOH7 KIF11 TUBGCP6 CTNNB1 HP_ABNORMAL_MORPHOLOGY_OF_THE_CONJUNCTIVAL_VASCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MORPHOLOGY_OF_THE_CONJUNCTIVAL_VASCULATURE ACVRL1 GLA ENG ERCC4 CTSA ERCC2 GNAQ XPC MANBA GDF2 ERCC5 DDB2 FUCA1 PEX6 ERCC3 MASP1 XPA PCNA ATM RNF168 SETX SMAD4 ANO10 HP_APLASIA_HYPOPLASIA_AFFECTING_THE_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_AFFECTING_THE_EYE ERCC2 TCTN2 SDHD MAF GTF2I SIX3 BUB1B ALX3 ARNT2 PTPN23 SUFU ERCC8 INTS1 FGFR1 RAB3GAP1 KRAS CPAMD8 VHL APC EBP HESX1 SPOP NDP MBTPS2 RSPO2 RERE FREM2 ARSL ROBO1 SMCHD1 ZIC2 SMOC1 PAX6 HMX1 DAG1 CENPF ANKRD11 TCTN1 CRYAA RAB18 ERCC6 XYLT2 TRIM28 ZEB2 SDHB SIN3A WDR37 FAM111A OCRL COX7B ITPR1 POU1F1 NUP188 ERCC1 MC1R SLC6A1 TBL2 TUBB3 RFWD3 SLC24A5 OCA2 ERCC4 STRA6 MIR140 OTUD5 SDHC GRIP1 PROKR2 PIGN FIG4 TUBB PDE6H CACNA1F VSX2 MKS1 TBX15 ACTB HSPG2 HHAT SLC45A2 PORCN SHH SALL4 SMO LHX3 TYR FZD4 PPP1CB BTRC VAC14 ZNF699 HNRNPU RARB DOCK7 CFAP418 RPGRIP1L FKRP POMGNT2 PQBP1 SRD5A3 FGFRL1 FOXC1 FANCL CPLX1 MAX PDE6C TMEM67 OSGEP NCF1 KIF14 B9D1 FOXA2 FDFT1 HCCS PUF60 LHX4 DNAJC30 BRCA1 HNRNPK GDF6 MAB21L2 SALL1 DISP1 ATF6 SOX3 WT1 NEXMIF POU6F2 ELP4 MPDZ FGF8 SMARCA2 CHD7 PROM1 BCL7B MFRP GTF2H5 PRSS56 TXNDC15 PTCH1 SCN1A B4GAT1 CHN1 CHUK MDH2 SEC24C TBL1XR1 LMX1B PXDN YAP1 SOX2 FANCI POLR1D BUB1 COMT RAB3GAP2 DONSON MAPRE2 JMJD1C MEF2C BRCA2 C12orf57 PRPS1 RECQL4 ACTG1 MPLKIP ELN POMK FANCG SLC38A8 EIF4H COL4A1 B3GALNT2 OTX2 GLI3 SNAP29 NEFL GPR143 TRIP13 PROP1 GJA1 B9D2 CRPPA FANCA ELOVL4 LYST PPP2R1A NHS POLR1B MAP2K2 CASK KIF1B STIL TARS1 FBN1 BUD23 MIR184 HIRA PIK3CD STAG2 GLI2 PIEZO2 DACT1 CLDN3 ADAMTSL1 WNT10B ALX1 PTCH2 TBX1 PIK3R1 TMEM216 POMT1 FANCB IGF1R LRP2 DLL4 IKBKG SMG9 GTF2E2 CC2D2A ADAMTS10 FKTN NAA10 TUBGCP6 FANCE CEP120 WNT3 LRP5 POMGNT1 SETD5 ALX4 ERCC5 TONSL SEM1 CNGB3 TBCE FANCF NOTCH1 FH POLR1C TBC1D20 TBR1 PHGDH GMPPB ARVCF CAPN15 EPS15L1 SLC25A11 TRIM44 POMT2 VPS13B SDHAF2 RREB1 PDE6D BLOC1S5 TMEM270 CRB1 RXYLT1 HPS6 NF1 HS2ST1 HMGB3 CEP290 RAD51C FOXL2 ZNF408 KIF11 WDR73 BUB3 ARHGAP31 PIK3CA MAFB BCOR RBPJ TMEM231 EOGT GTF2IRD1 KNSTRN HYLS1 SLC25A24 COX14 ESCO2 ALDH1A3 ZIC1 TCTN3 BEST1 FBXW11 NSD2 TENM3 RTTN LAMB2 PTF1A ATOH7 TCOF1 FOXE3 FANCC SLX4 LARGE1 BMP4 CHD2 TMEM127 NDUFB11 GPR161 LDHD SYCE1 CSPP1 BLOC1S3 PITX2 GNAT2 WDR11 RNF135 HPS4 RET GATAD2B RNF113A METTL27 SEMA3E NUAK2 KIF7 ERF XRCC2 ERCC3 SOX10 SON CNGA3 TUBA8 DOCK6 TMEM98 NFIX DLST RHOA COL18A1 ALDH6A1 TOGARAM1 HRAS PITX3 PRPH2 TFAP2A MED13L INTU HDAC6 BRIP1 ASPH DPYD RFC2 SYNGAP1 UBE2T NRAS DLX5 RAD51 FOXG1 TKFC NEU1 MED25 DCT MITF RBP4 TMEM237 MAD2L2 RB1 TMEM107 ZPR1 CTBP1 TUBGCP4 DDHD2 SMAD4 AP2M1 MYO5A CLIP2 RMRP ABHD11 SCN8A DLX6 LETM1 RAX RPGRIP1 BDNF LAT2 PHYH STX1A RPGR ABCA4 DNMT3A GRIA4 FANCD2 SLC2A1 EXOC2 GDF3 RBBP8 LIMK1 SIX6 FRAS1 BAZ1B FGF3 FREM1 TP63 NR2F1 ATAD3A POLR3A UGP2 CTNNB1 PEX7 PAX2 LTBP2 UFD1 CEP57 COL2A1 RIPK4 HPS5 DHCR7 REST VAX1 GTF2IRD2 MED12 H19 GP1BB PCYT1A PLK4 ABCB6 TSPAN12 SDHA VPS35L TRIT1 FKBP6 CLDN4 DIS3L2 VPS37D MLXIPL CTDP1 CDON MT-CYB NDE1 PAX3 GPC3 FANCM PALB2 STIM1 HP_APLASIA_HYPOPLASIA_AFFECTING_THE_FUNDUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_AFFECTING_THE_FUNDUS MAF ZPR1 DDHD2 FANCI MAFB ARNT2 PTPN23 KNSTRN MYO5A MEF2C PRPS1 ALDH1A3 APC FANCB ZIC1 HESX1 SPOP SCN8A MBTPS2 RSPO2 SLC38A8 ARSL RTTN ROBO1 B3GALNT2 PAX6 HMX1 PTF1A OTX2 CENPF ANKRD11 SNAP29 RPGR NEFL GPR143 PROP1 LHX4 ABCA4 DNMT3A ELOVL4 SOX2 GRIA4 TYR GPR161 LYST PPP2R1A SLC45A2 BLOC1S3 GDF6 GNAT2 CRPPA MAP2K2 WDR11 POU1F1 CASK FGFR1 RNF135 HPS4 CACNA1F EXOC2 MC1R POMT2 WNT3 GATAD2B SALL4 TUBB3 PIK3CD STAG2 PROKR2 SLC24A5 OCA2 SIX6 OTUD5 POMT1 ERF NR2F1 PDE6H ATAD3A POLR3A UGP2 GLI2 GDF3 SON IKBKG CNGA3 POMK CNGB3 TUBA8 LHX3 NFIX HPS5 PPP1CB FKTN WT1 HNRNPU COL18A1 PUF60 CFAP418 MED12 PRPH2 FKRP SRD5A3 HNRNPK PDE6C KIF14 DPYD TRIT1 GMPPB FOXA2 FDFT1 FOXC1 POMGNT1 TRIM44 CDON ATF6 SOX3 NDE1 FOXG1 BLOC1S5 MPDZ NEU1 PROM1 RNF113A LARGE1 HPS6 DCT CHN1 HP_APLASIA_HYPOPLASIA_OF_THE_OPTIC_NERVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_OPTIC_NERVE ZPR1 DDHD2 FANCI MAFB ARNT2 PTPN23 KNSTRN MEF2C PRPS1 ALDH1A3 APC FANCB ZIC1 HESX1 SPOP SCN8A MBTPS2 RSPO2 ARSL RTTN ROBO1 B3GALNT2 PTF1A OTX2 CENPF ANKRD11 SNAP29 NEFL PROP1 LHX4 PAX6 DNMT3A SOX2 GRIA4 GPR161 PPP2R1A GDF6 CRPPA MAP2K2 WDR11 POU1F1 CASK FGFR1 RNF135 EXOC2 POMT2 WNT3 GATAD2B SALL4 TUBB3 PIK3CD STAG2 PROKR2 SIX6 OTUD5 POMT1 ERF NR2F1 ATAD3A POLR3A GLI2 GDF3 SON POMK TUBA8 LHX3 NFIX PPP1CB FKTN WT1 HNRNPU PUF60 MED12 FKRP SRD5A3 HNRNPK KIF14 TRIT1 GMPPB FOXA2 FDFT1 CDON SOX3 NDE1 POMGNT1 FOXG1 RNF113A LARGE1 CHN1 HP_APLASIA_HYPOPLASIA_OF_THE_RETINA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_RETINA PAX6 MAF PDE6H CACNA1F UGP2 MYO5A GDF3 IKBKG SLC45A2 CNGA3 CNGB3 TYR HPS5 WT1 COL18A1 SLC38A8 CFAP418 PRPH2 HMX1 PDE6C RPGR DPYD GPR143 ABCA4 FOXC1 ELOVL4 LYST POMGNT1 BLOC1S3 OCA2 GDF6 GNAT2 TRIM44 ATF6 HPS4 MC1R BLOC1S5 MPDZ NEU1 PROM1 HPS6 DCT SLC24A5 HP_APLASIA_HYPOPLASIA_AFFECTING_THE_ANTERIOR_SEGMENT_OF_THE_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_AFFECTING_THE_ANTERIOR_SEGMENT_OF_THE_EYE TMEM107 SDHD LMX1B GTF2I CTBP1 WDR73 MAFB WT1 TMEM231 GTF2IRD1 FOXC1 BRCA2 CLIP2 FANCE CPAMD8 ABHD11 VHL NDP ITPR1 DLX6 TCTN3 LETM1 ELN FBXW11 NSD2 RPGRIP1 BDNF LAMB2 FANCI EIF4H PAX6 HMX1 TRIM28 LAT2 STX1A TCTN1 TRIP13 FOXE3 SLX4 XYLT2 B9D2 FANCA TMEM127 SDHB FBN1 LDHD CSPP1 PITX2 PORCN FANCL KIF1B RET BUD23 MIR184 MKS1 METTL27 SALL4 TBL2 HHAT RFWD3 LIMK1 CLDN3 ERCC4 ADAMTSL1 WNT10B PIK3R1 BAZ1B TMEM216 SDHC FGF3 XRCC2 FANCB TP63 IGF1R LRP2 SOX10 LTBP2 COL2A1 CC2D2A DLST ADAMTS10 BTRC REST COL4A1 GTF2IRD2 H19 RPGRIP1L FGFRL1 TONSL SEM1 CPLX1 SDHA FANCF MAX TMEM67 FH NCF1 FANCC RFC2 B9D1 FKBP6 CLDN4 DIS3L2 DNAJC30 UBE2T EPS15L1 VPS37D FANCG SLC25A11 MLXIPL TRIM44 DLX5 RAD51 MT-CYB SDHAF2 TCTN2 POU6F2 ERCC6 ELP4 PAX3 BRCA1 TMEM270 FGFR1 FAM111A GPC3 BCL7B BRIP1 FANCD2 TXNDC15 FANCM MITF PALB2 STIM1 CHN1 NF1 HS2ST1 TMEM237 MAD2L2 CEP290 RAD51C MDH2 HP_APLASIA_HYPOPLASIA_OF_THE_LENS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_LENS HMX1 MT-CYB COL2A1 LMX1B FBN1 NDP FGF3 FOXE3 ADAMTS10 XYLT2 FBXW11 LTBP2 TONSL CPAMD8 HP_ICHTHYOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ICHTHYOSIS ERCC3 CERS3 NRAS NLRP3 PIGA TGM1 HS6ST1 VIPAS39 ITGB6 KRAS SEMA3A ALDH3A2 SDR9C7 EBP SPINK5 GJB6 SLC27A4 TARS1 ABHD5 MBTPS2 ANOS1 ALOXE3 DOLK ABCA12 PROKR2 BRAF PEX26 LSS FITM2 SGPL1 KANSL1 TMPRSS6 NIPAL4 KRT1 GJB2 TMEM43 SUMF1 SLURP1 FGF8 SBDS PSAT1 CHD7 RNF113A SOX10 PIGL CYP4F22 MAP2K2 CWC27 SREBF1 PEX10 CHKB DUSP6 TACR3 CCDC141 IL2RB FGF17 CARMIL2 PEX3 TGM5 STIM1 AHSG PEX7 ERCC2 SRD5A3 AP1B1 STS SYNE2 PEX6 DNAJC21 PEX14 POMP PNPLA1 EFL1 GINS1 PROK2 PEX2 ELOVL4 KRT10 HESX1 GTF2H5 GBA HRAS PEX13 GTF2E2 PEX5 FGFR1 KRT9 SNAP29 VPS33B PEX19 ALOX12B KRT2 CLDN1 DSP KRT16 MPLKIP CARD14 ARSL IL17RD SHOC2 SYNE1 SLC29A3 LMNA PEX1 LORICRIN DCC NSDHL PHYH FLRT3 NOD2 SULT2B1 MSMO1 CSTA SRP54 NEK9 ORAI1 AP1S1 PEX11B ST14 NDNF RIN2 PHGDH WDR11 COL4A5 MAP2K1 FHL1 FLG LIPN PEX12 PEX16 FEZF1 ASPRV1 SPRY4 EMD HP_APLASIA_HYPOPLASIA_OF_THE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_SKIN NSD2 PPARG PLEC C1R COL1A1 ENPP1 LAMB3 B3GALT6 ARHGAP31 MGP LEMD3 SATB2 RBPJ EOGT POLR3A LMNA ACD SPEN TERT EBP COL7A1 GORAB TP53 ITGA6 CHRNG SOX18 EDARADD MCTP2 RTEL1 COL17A1 SLC2A10 FBN1 TERC COL1A2 TCIRG1 TNFRSF11A NHP2 ERCC2 ARF1 ABL1 SMAD3 ITGB4 NELFA TP63 PYCR1 NDUFB11 TRAF6 COX7B ADAMTSL2 PRKD1 FERMT1 B4GALT7 KLHL24 TGFBR1 DDB2 NFIX PEPD NOTCH1 ALDH18A1 SMARCAD1 KRAS ERCC3 USP8 ALX4 KRT14 CTBP1 AIP ATM UBE3B TMTC3 PMVK PARN MMP1 PORCN ADA2 CARMIL2 BMS1 DKC1 PLOD1 DOCK6 NOP10 PPP1CB ABCC6 XPA ZMPSTE24 ERCC6 MTAP LAMC2 TFAP2A FGFRL1 TWIST2 GNAS EDA DSE PROC COL5A1 CPLX1 LRP1 TINF2 ERCC4 FLNA HCCS COL12A1 PDGFRB XPC COL3A1 TAF1 GSN ATP6V1B2 CHST14 NPM1 LAMA3 CTSC NEDD4L POLH AEBP1 TNXB COL5A2 FKBP14 CHUK MAP1B PIGG RECQL4 ERCC5 LIFR WRN ORC1 UBR1 PDE11A LETM1 ADAMTS2 C1S POLD1 KRT5 HSPA9 MVK DDR2 MSX2 DLL4 MYH3 MTX2 PDE8B ARFGEF2 TGFB2 KDF1 SLC39A13 PTDSS1 ARL6IP6 DHCR24 ALG9 DSP PIK3R1 TGFBR2 KRT2 WRAP53 USB1 COL6A3 FMR1 PROS1 DST ANTXR2 ARMC5 PRKAR1A EDAR CTC1 ANAPC1 COPB1 PRKACA ERMARD DLG4 CDH23 KCTD1 COL6A2 SLC29A3 SMO CUL4B COL6A1 HP_ABNORMAL_BLISTERING_OF_THE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLISTERING_OF_THE_SKIN LAMC2 PLEC RECQL4 LAMB3 KRT5 KRT1 UBAC2 UROS KRT14 IL23R ANAPC1 KRT6B COL2A1 HLA-B SPEN ITGA3 GJB4 COL17A1 TERT LAMA3 CD151 COL7A1 ITGA6 MEFV KIT MMP23B CCR1 KLRC4 TERC FOXP3 CBL C4A ECM1 ITGB4 NHP2 GJA1 HLA-DRB1 FAS KCNAB2 RUNX1 CYP26C1 SRSF2 TNFSF11 TGM5 UBE4B CSTA FERMT1 BRAF SNX10 KLHL24 TLR4 CLCN7 SMARCAD1 SKI PKP1 DSG3 GJB3 HLA-DQB1 IL10 RERE PRKCZ HSPG2 IL12A DSP PARN MMP1 KRT10 RTEL1 CASZ1 DKC1 PRDM16 GATA1 NOP10 CPOX SLC39A4 KRT2 WRAP53 STAT4 USB1 IL12A-AS1 LUZP1 CLTRN AQP5 IKBKG TCIRG1 TINF2 CTC1 TET2 BLM IKZF1 PPOX UROD NPM1 DSG1 ERAP1 KRT16 SLC6A19 DSC3 KRT17 KDSR GABRD PDPN ASXL1 KRT6A HP_ABNORMALLY_LAX_OR_HYPEREXTENSIBLE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALLY_LAX_OR_HYPEREXTENSIBLE_SKIN ATP7A TENT5A C1R COL1A1 ENPP1 RTL1 GTF2I B3GALT6 GNB2 KRAS FBN1 COL12A1 FBLN5 GTF2IRD1 GGCX HPGD ACD PEX1 SLC25A24 MAN1B1 ATP6AP1 GORAB SLC6A8 RAF1 RTEL1 SLC2A10 COL1A2 ZNF469 RPS6KA3 TERT TNXB PTEN NAA10 IFT43 ATP6V0A2 XYLT2 CHST3 ABCC6 PYCR1 INSR WDR37 ELN MRPS16 ADAMTSL2 B4GALT7 EZH2 FLNA EFEMP2 METTL27 TBL2 ALDH18A1 MAP2K2 CHST14 PITX2 OTUD5 FIG4 TUBB BRAF MRPS22 PLOD1 GSN TGM5 VAC14 MEG3 EHMT1 SH3PXD2B TWIST2 FGFR2 SRD5A3 DSE EXT1 COL5A1 YY1 SLC7A7 SPINT2 NCF1 TRPS1 KIAA0586 RFC2 PDGFRB PUF60 COL3A1 DNAJC30 CEP55 AEBP1 ATP6V1A COL5A2 FKBP14 SLC26A2 CD96 ANTXR1 BCL7B OSMR TBL1XR1 KDELR2 B3GAT3 SMARCD2 CLIP2 FOXC1 ABHD11 IARS1 DKC1 WDR35 ALG8 MEGF8 SHOC2 GBA ADAMTS2 C1S NDUFB11 EIF4H RIN2 LAT2 HRAS MBTPS2 STX1A SON MRAS NEPRO SMARCA2 FGFR3 PARN MLXIPL CSTA BUD23 TGFB2 DLK1 SLC39A13 LIMK1 CLDN3 NBAS PTPN11 PRDM5 PIK3R1 BAZ1B PTDSS1 NPR2 NDUFB10 GPX4 SUZ12 PAX2 BCL11B TBX15 MAP2K1 LTBP4 CSPP1 EXOC6B WDR19 GTF2IRD2 ALG12 SKI AKT3 ATP6V1E1 XYLT1 ATP6AP2 FGF10 FKBP6 NSD1 CLDN4 VPS37D FGD1 TINF2 LZTR1 MAPRE2 TMEM270 EED CFTR FGF20 KMT2C RIT1 HP_NEOPLASM_OF_THE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_SKIN PSENEN NF1 KEAP1 NRAS BMPR1A MLH1 WNT10A UROS STK4 SUFU SLCO2A1 ATP2A2 ALX3 PTEN LMNA RSPO1 KRT6B BAP1 KRAS GJB6 LAMB3 PIK3CA NTHL1 APC FH IVNS1ABP FAS ECM1 IL7 CYLD SPTBN1 AKT1 ERCC2 CXCR4 TPP2 TGFBR2 SMARCAD1 SDHB COL1A1 PMS2 CDKN2A KRT1 GJB2 TSC2 TERC MLH3 SNAI2 KIT MSH6 MSH2 RNF113A MITF MC1R DDB2 BLM CD4 BRAF EP300 TMC6 PLCD1 KLLN GJB3 ERCC3 PDGFB SDHC CTNNB1 WRAP53 PTCH2 FDPS SEMA4A MMP1 SLC45A2 PORCN VEGFC NOTCH3 RPS20 CARMIL2 TNFRSF1B GATA1 MVD TYR XPA LRRC8A GNAS IL6 HRAS IFNG LAMC2 TRAF7 LRP1 IKBKG CD28 SMO PRKAR1A ERCC4 XPC PDGFRB CTLA4 CDKN1B OCA2 PIK3R1 LAMA3 CTSC CD79A POLH TMC8 FLT4 USF3 FGFR1 KRT17 MSH3 OCRL GTF2H5 PTCH1 SEC23B KRT9 RECQL4 ERCC5 NLRP1 WRN RASGRP1 GJB4 FCN3 IGLL1 KRT16 MPLKIP SLX4 DMPK NF2 SMARCB1 CD79B AAGAB CASP10 COL14A1 KRT5 STK11 SLC17A9 DCLRE1C GJA1 SASH1 GPR143 CREBBP DOCK8 MEN1 TINF2 TNFRSF10B SPRED1 CIB1 SMARCE1 NUTM1 TARS1 ING1 EPCAM GJC2 SDHD STAT1 TP53 KRT14 BLNK TERT CDK4 PMS1 PERP GTF2E2 GNA14 TSC1 POGLUT1 FERMT1 RASA1 BRD4 IGHM TNFRSF4 MVK DICER1 PMVK FAN1 PRKCD HPGD DKC1 COL7A1 TCF3 ANAPC1 FASLG FLCN POFUT1 MBTPS2 RMRP KDSR STIM1 TRPV3 KRT6A HP_SPARSE_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPARSE_HAIR GNRH1 TRPS1 DUSP6 SATB2 GNB2 NTRK1 WNT10A ITGB6 KRAS GATAD2B LMNA GJB6 CDH1 TERT IKBKG RBBP8 KISS1 EXOSC2 SF3B4 DNAJC21 EDARADD RTEL1 COL17A1 MBTPS2 NR5A1 DOLK MED25 CDH3 B3GALT6 BRAF NHP2 BANF1 KREMEN1 SKIV2L GJB2 TGM1 NECTIN1 LSS MGAT2 WDR11 PRKD1 CENPE SOX18 DMRT3 ALDH18A1 PYCR1 MAP2K2 SREBF1 CCDC141 EDAR FIG4 CARS1 TACR3 SMARCC2 PARN KANK2 KRT83 DKC1 ITGB4 BRF1 PPP1CB VAC14 MAP3K1 ADNP AHSG MED12 ERCC2 EXT2 PQBP1 WWOX CACNA1G PROK2 EXT1 TP63 SLC7A7 FGF17 POP1 CREBBP TINF2 DSG4 PHF6 APCDD1 BRCA1 GSN FLNA DPH1 DNMT3A KRT71 ATP6V1A DSP ANTXR1 HR NF1 EPS8L3 OCRL GTF2H5 ARID1A POC1A PSMC3IP RECQL4 FSHR BICRA ARID2 NOP10 ANAPC1 AXIN2 SRA1 FAT4 MPLKIP LAMA3 KRT17 UBR1 NECTIN4 SHOC2 ARID1B TRPV3 ATP7A ZFPM2 SPRY4 RIN2 HRAS KIFBP LIPH GJA1 NSUN2 SMARCA2 IFT52 SETD2 SULT2B1 PORCN FGFR1 KCTD1 TARS1 MTX2 EDNRA PLK4 PTPN22 KDF1 PSMB8 KRT74 NSMF PKP1 KRT25 ALX1 PIK3R1 KRT86 LAMC2 ST14 ODC1 IGF1R LHB DLL4 HOXC13 KRT85 GTF2E2 KAT6B SNRPE XRCC4 MAP2K1 SMARCA4 SOX9 ZMPSTE24 B4GALT7 LIPN SPIDR DCAF17 ATP6V1E1 NOTCH1 CANT1 CYP4F22 CTC1 NR0B1 CLDN1 CBL TTC7A ERCC6 EIF5A CEP57 TWIST2 DSC3 TAC3 SMARCB1 AR SOX11 GATA4 FOXL2 DLX4 RBPJ EOGT POLR3A SDR9C7 HLA-DRA ACD HS6ST1 SPINK5 SLC25A24 ESCO2 OFD1 NUP107 ATRIP TBX3 ALOXE3 TERC TRMT10A LPAR6 PROKR2 KDM1A IFT43 ATP6V0A2 FAS FSHB PERP TRAF6 APC2 LAMB3 NFKBIA RPL21 DPF2 WT1 ERCC8 TCOF1 EZH2 KLHL24 RNF113A SRY AXL VAMP7 PIGL SEC23A MDM2 CKAP2L MSX1 CHD7 STING1 TSR2 PPP1R15B EDA HDAC4 CWC27 TRAIP CDSN UBE3B ZBTB20 MAF PCNT TMCO1 CBS CYB5A ERCC3 ATR TOGARAM1 ADAMTS3 TFAP2A WDR19 KDM4B WDR35 IFT122 MRPS22 TAF1 EBP NPM1 CTSC SMARCD1 FEZF1 FMR1 HPD HRURF BCORL1 GNRHR ORC6 ANOS1 GTPBP2 JUP SOX4 SMAD4 SEMA3E WRN ITGA3 TTC37 RMRP NRAS PCGF2 POLR3H CLMP NSD1 NIPAL4 SMARCE1 ALOX12B HSPA9 PNPLA6 NEPRO ASXL3 BNC1 CEP152 FGF8 KISS1R CYP17A1 KRT81 ARHGAP31 XYLT1 WNT10B MESD CCBE1 FRMD4A ALX4 LIG4 RNU4ATAC RIPK4 WRAP53 COL11A1 CENPJ USB1 BMP15 CST6 PTDSS1 DOCK6 BLM DHX37 DSG1 EDA2R PPP2R3C ABCA12 PDGFRB HP_MATERNAL_HYPERTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MATERNAL_HYPERTENSION HELLPAR NOS3 CFI NR3C2 CFH CD46 SPTBN1 HP_PROGRESSIVE_PES_CAVUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_PES_CAVUS SLC33A1 WASHC5 KIF5A CPT1C FHL1 UBAP1 ATP13A2 RTN2 ALDH18A1 CAV3 HP_PES_VALGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PES_VALGUS HK1 FLNA GABRG2 TPM2 RAI1 TCF4 FBN1 LONP1 STXBP1 GABRA1 SCN2A REEP1 BSCL2 COL12A1 MAP3K7 SLC16A2 TOR1A MYPN GDF5 SCN9A SCN1B KDELR2 RFT1 GARS1 TRIP4 CAPN1 WDR19 PPP1R15B TPM3 COL6A3 PUF60 SCN1A PIGG TRMT10A WAC COL6A2 COL6A1 PCDH19 SYT1 SH3TC2 HP_ABNORMALITY_OF_THE_FIFTH_METATARSAL_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FIFTH_METATARSAL_BONE RIPK4 GNAS HEPHL1 FLNA HOXD13 HP_EQUINOVARUS_DEFORMITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EQUINOVARUS_DEFORMITY TBC1D24 ERGIC1 VPS13A HADHB FARS2 PMP22 HADHA ATP6V1B2 SLC26A2 LMX1B HP_DEFORMED_TARSAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEFORMED_TARSAL_BONES ECEL1 COL1A2 GDF5 PHGDH EZH2 TPM2 KANSL1 ATP6AP2 ZEB2 TNNI2 ADAMTSL1 HOXD10 HP_EQUINUS_CALCANEUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EQUINUS_CALCANEUS HADHB AEBP1 FBN1 HADHA SYT1 HOXD10 HP_IMPAIRED_EPINEPHRINE_INDUCED_PLATELET_AGGREGATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_EPINEPHRINE_INDUCED_PLATELET_AGGREGATION PLAU ITGB3 CALR THPO SH2B3 HP_PERIODIC_HYPOKALEMIC_PARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIODIC_HYPOKALEMIC_PARESIS GABRA3 SCN4A CACNA1S CDH23 SLC4A1 KCNJ2 KCNJ5 KCNE3 CA2 KCNJ18 HP_DECREASED_CIRCULATING_CORTISOL_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_CORTISOL_LEVEL QRSL1 TRAF7 CYP17A1 PDGFB TBX19 GLI3 CYP11A1 BAP1 MRAP TERT POR AAAS GATB NFKB2 PIK3CA NF2 PCSK1 SMARCE1 SUFU HSD3B2 NR0B1 SMARCB1 MC2R TXNRD2 STAR CYP11B1 GATC ABCD1 NNT SMO AKT1 HP_VERY_LONG_CHAIN_FATTY_ACID_ACCUMULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERY_LONG_CHAIN_FATTY_ACID_ACCUMULATION PEX10 HSD17B4 PEX16 PEX6 PEX26 PEX19 PEX14 ACBD5 PEX3 PNPLA2 PEX11B PEX12 PEX5 PEX1 ABCD1 PEX2 PEX13 HP_MILDLY_ELEVATED_CREATINE_KINASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MILDLY_ELEVATED_CREATINE_KINASE TPM2 GABRA3 MPV17 TTN NEB MT-TN MATR3 TIA1 ACTA1 COL12A1 RYR1 MYH14 CHCHD10 GNE MYPN DNM2 DOK7 BIN1 ALG2 KCNJ18 ERGIC1 KBTBD13 SCN4A PEX6 GFPT1 MT-TS1 MYH7 FLNC POMT1 COL6A3 PLEKHG5 QRICH1 POLG HNRNPA1 FKTN MICU1 CACNA1S TFG COL6A2 MSTO1 KCNE3 TRMU ADSS1 LMNA HADH COL9A3 TRIP4 MT-TE MYF6 TWNK MT-TL1 KLHL41 CRPPA FKRP MTMR14 TPM3 VCP MT-TL2 COL6A1 UBA1 SQSTM1 HP_ABSENCE_OF_SECONDARY_SEX_CHARACTERISTICS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENCE_OF_SECONDARY_SEX_CHARACTERISTICS GNRH1 CYP17A1 GATA4 LHX4 CHD7 FGF17 CYP11A1 PROP1 FOXA2 MAP3K1 HESX1 NR0B1 TACR3 POLA1 GLI2 HS6ST1 DHX37 FGF8 ESR1 KISS1R WDR11 OTX2 FGFR1 KISS1 SOX3 CYB5A SOX9 WT1 GNRHR POU1F1 SRY NR5A1 VAMP7 TAC3 DMRT3 LEP ZFPM2 WWOX DUSP6 NSMF LEPR PROKR2 PROK2 SPRY4 HP_THYROID_DYSGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THYROID_DYSGENESIS PAX8 NKX2-1 NKX2-5 GLI3 LIFR KAT6B HP_THYROID_AGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THYROID_AGENESIS FOXE1 NKX2-1 SLC26A4 PAX8 TSHR NKX2-5 KAT6B HP_PRIMARY_GONADAL_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMARY_GONADAL_INSUFFICIENCY GATA4 XRCC4 CYB5A EIF2B2 SOX9 EIF2B5 WT1 EIF2B1 MAP3K1 EIF2B3 SRY NR5A1 NR0B1 VAMP7 NSMCE2 DMRT3 CYP17A1 EIF2B4 WFS1 ZFPM2 WWOX DHX37 HP_ABSENCE_OF_PUBERTAL_DEVELOPMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENCE_OF_PUBERTAL_DEVELOPMENT GNRH1 CYP17A1 SIM1 CHD7 FGF17 TACR3 DHX37 DCHS1 HS6ST1 FGF8 ESR1 KISS1R WDR11 FGFR1 KISS1 NR0B1 MAGEL2 GNRHR ZMPSTE24 TAC3 DUSP6 NSMF LMNA PROKR2 FAT4 PROK2 SPRY4 HP_PRIMARY_HYPERPARATHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMARY_HYPERPARATHYROIDISM GCM2 CDC73 MEN1 CDKN1B CDKN2C CASR YY1 CDKN1A AP2S1 GNA11 CDKN2B HP_REDUCED_CIRCULATING_PROLACTIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_CIRCULATING_PROLACTIN_CONCENTRATION TRAF7 TRHR POU1F1 PDGFB RBM28 PROP1 GNAS LHX3 IGSF1 SMARCB1 BAP1 TERT HESX1 LHX4 PIK3CA NF2 SMO SMARCE1 SUFU AKT1 HP_PRIMARY_ADRENAL_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMARY_ADRENAL_INSUFFICIENCY QRSL1 PEX11B ABCD1 PDGFB TBX19 HSD17B4 PEX1 PEX14 PEX6 CYP11A1 TERT HSD11B2 PEX12 PEX26 PEX16 BAP1 PEX5 GATB NFKB2 NR0B1 MRPS7 PEX10 SMARCB1 CYP11B2 MC2R PEX2 TXNRD2 NR3C1 STAR PEX3 PEX13 SCNN1B CYP11B1 GATC AKT1 TRAF7 CYP17A1 GLI3 MRAP POR PEX19 KANSL1 AIRE AAAS PIK3CA NF2 PCSK1 SMARCE1 SUFU HSD3B2 TCTN3 NR3C2 NNT SMO HP_PARATHYROID_HYPERPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARATHYROID_HYPERPLASIA MEN1 CDKN1A CDKN1B TSC2 CDKN2C TSC1 RET KL CDKN2B HP_PREMATURE_OVARIAN_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_OVARIAN_INSUFFICIENCY FIGLA NR5A1 FSHR IQCB1 CEP164 FOXL2 LARS2 BMP15 GALK1 NOBOX XRCC2 INVS BNC1 ANAPC1 LMNA FMR1 TTI2 POLG2 RASGRP1 NBN ERAL1 SDCCAG8 MCM8 NUP107 POLG POLR3H TRAF3IP1 CASP10 HSF2BP EIF2B4 HFM1 SPIDR FAS DCAF17 PRKCD WDR19 RIN2 GALT EIF2B2 THOC6 DIAPH2 PMM2 MRPS22 EIF2B1 RCBTB1 AIRE BLM NPHP1 USP8 FASLG POF1B C14orf39 EIF2B5 CDH23 MCM3AP TWNK EIF2B3 B4GALNT1 NPHP3 STAG3 NPHP4 AARS2 PSMC3IP CEP290 HP_GONADOTROPIN_DEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GONADOTROPIN_DEFICIENCY NKX2-1 POMC FSHB SEMA3E GLI3 KISS1R FGFR1 PCSK1 LHX3 CHD7 HP_ADRENAL_HYPERPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENAL_HYPERPLASIA CACNA1D CYP17A1 TBC1D24 ARMC5 PDE11A STAR POR PDE8B PRKAR1A CLCN2 CYP11B1 USP8 PRKACA HSD3B2 KCNJ5 CDH23 CYP11B2 NR3C1 AIRE GNAS ATP6V1B2 CYP21A2 HP_FEMALE_INFERTILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEMALE_INFERTILITY SPEF2 FIGLA FOXL2 TUBB8 DNAI2 CCDC39 C11orf80 CFAP221 DNAH1 ODAD2 RSPH4A DNAAF6 ZP2 DNAAF2 BTG4 ODAD3 PGR DNAH9 PATL2 RSPH9 MCIDAS DNAH11 DNAAF3 CCDC40 CCDC103 HSF2BP DNAAF4 TTC12 DNAAF1 GAS8 DNAJB13 CFAP300 RSPH1 DNAAF5 CCNO TLE6 DRC1 CCDC65 FOXJ1 OFD1 SPAG1 TRIP13 ZMYND10 PANX1 DNAI1 CYP19A1 NME8 NEK10 ODAD1 WEE2 DNAH5 ODAD4 RPGR RSPH3 REC114 DNAAF11 CFAP298 LRRC56 HYDIN DNAL1 STK36 GAS2L2 HP_COMPENSATED_HYPOTHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMPENSATED_HYPOTHYROIDISM TSHR NKX2-1 FOXI1 TREX1 TG SLC26A4 TANGO2 KCNJ10 HP_ELEVATED_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_LEVEL CYP17A1 GDF9 FIGLA GATA4 NR5A1 NSMCE2 CYP11A1 FGD1 FOXL2 DHX37 XRCC2 SRY CBX2 POR MAP3K1 BNC1 NR0B1 FANCM CNBP C14orf39 ERCC6 KISS1R MCM8 CYB5A SOX9 WT1 PPP2R3C VAMP7 DMRT3 ESR2 ZFPM2 WWOX AR HP_DECREASED_CIRCULATING_PROGESTERONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_PROGESTERONE EIF2B3 EIF2B4 EIF2B2 EIF2B5 FOXL2 EIF2B1 POR HP_HYPOTHALAMIC_HYPOTHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOTHALAMIC_HYPOTHYROIDISM TRAF7 PDGFB SMARCB1 BAP1 TERT TRH PIK3CA NF2 SMO SMARCE1 SUFU AKT1 HP_SECONDARY_GROWTH_HORMONE_DEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SECONDARY_GROWTH_HORMONE_DEFICIENCY TRAF7 PDGFB CDH23 GLI3 SMARCB1 BAP1 TERT MEN1 AIP PIK3CA NF2 SMO SMARCE1 SUFU AKT1 HP_PSEUDOHYPOALDOSTERONISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSEUDOHYPOALDOSTERONISM CUL3 SCNN1B SCNN1A WNK4 KLHL3 WNK1 SCNN1G NR3C2 HP_PITUITARY_HYPOTHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PITUITARY_HYPOTHYROIDISM TRAF7 TRHR PDGFB LHX4 GLI3 POU3F4 BAP1 PROP1 TERT FOXA2 CTNNB1 MEN1 POMC HESX1 GLI2 AIP PIK3CA NF2 TSHB SMARCE1 SUFU OTX2 POU1F1 RBM28 CDH23 SOX3 LHX3 SMARCB1 TMEM67 LEP ARNT2 BRAF LEPR SMO PCSK1 AKT1 HP_TRANSIENT_NEONATAL_DIABETES_MELLITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRANSIENT_NEONATAL_DIABETES_MELLITUS KCNJ11 CEL ZFP57 ABCC8 PAX4 KLF11 HYMAI NEUROD1 INS HNF1A BLK HNF4A APPL1 PLAGL1 GCK PDX1 HP_ADRENOCORTICAL_ADENOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENOCORTICAL_ADENOMA APC CLCN2 KCNE3 SCN4A CYP11B1 MEN1 CACNA1S CDKN1B CYP11B2 HP_CONGENITAL_ADRENAL_HYPERPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_ADRENAL_HYPERPLASIA HSD3B2 CYP17A1 POR CYP11B1 STAR HP_PANCREATIC_ISLET_CELL_ADENOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_ISLET_CELL_ADENOMA MEN1 CDKN1A CDKN1B VHL CDKN2C MAFA CDKN2B HP_THYROID_DEFECT_IN_OXIDATION_AND_ORGANIFICATION_OF_IODIDE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THYROID_DEFECT_IN_OXIDATION_AND_ORGANIFICATION_OF_IODIDE TG TPO SLC5A5 DUOX2 DUOXA2 IYD HP_ABNORMAL_LIGHT_ADAPTED_ELECTRORETINOGRAM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LIGHT_ADAPTED_ELECTRORETINOGRAM CNGB3 PDE6C OPN1SW RPGR ATF6 PDE6H KIF3B GNAT2 CNGA3 HP_ABNORMAL_BLOOD_ZINC_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_ZINC_CONCENTRATION IARS1 COL7A1 SLC7A7 MMP1 SLC39A8 SLC30A2 HP_CEREBELLAR_CORTICAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBELLAR_CORTICAL_ATROPHY PLAA SC5D SHANK3 ZPR1 SIL1 HP_UNCONJUGATED_HYPERBILIRUBINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNCONJUGATED_HYPERBILIRUBINEMIA RHAG FARSB SLC30A10 GATA1 UGT1A1 G6PD HBB UROS SLC10A1 PKLR PIGA CASK HP_FASTING_HYPERINSULINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FASTING_HYPERINSULINEMIA INSR LMNA MEN1 PAPPA2 GLUD1 CDKN1B HADH YY1 GCK HP_EXERCISE_INDUCED_MYOGLOBINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXERCISE_INDUCED_MYOGLOBINURIA PGK1 PYGM ACADVL CRPPA PHKA1 PFKM FKRP LDHA HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_II http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_II ISCU IBA57 NFS1 SDHB SLC39A8 SDHA MIEF2 SDHD HP_ABNORMAL_MITOCHONDRIA_IN_MUSCLE_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MITOCHONDRIA_IN_MUSCLE_TISSUE NDUFS2 MT-TN NDUFAF8 MT-TS1 MT-CO3 MT-TL1 MT-ND3 NDUFAF3 NDUFAF4 MT-ND6 NDUFS6 MT-CO1 NDUFS7 NDUFA1 NDUFS4 NDUFAF2 NDUFV2 TIMMDC1 MYH7 AFG3L2 MT-TF FOXRED1 MT-CO2 NUBPL NDUFS3 NDUFS1 NDUFB11 MT-TS2 MT-TQ NDUFA6 NDUFA11 NDUFB10 NDUFV1 MT-ND1 MT-ND2 NDUFB9 MT-TW NDUFAF5 MT-ND5 SDHA NDUFS8 NDUFAF1 NDUFB3 TMEM126B MT-TH MT-ND4 MT-TL2 HP_IMPAIRED_COLLAGEN_INDUCED_PLATELET_AGGREGATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_COLLAGEN_INDUCED_PLATELET_AGGREGATION NBEAL2 IKZF5 ITGB3 CALR LCP2 BLOC1S5 THPO CISD2 SH2B3 HP_ABNORMAL_MITOCHONDRIAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MITOCHONDRIAL_MORPHOLOGY SQSTM1 TAFAZZIN POLG2 FUS FDXR PET117 C9orf72 VCP MFF MRPS14 GYG1 TBK1 MYH14 DNA2 CHCHD10 SPG7 SLC25A3 TARDBP HSD17B10 SUCLG1 MGME1 HP_ABNORMAL_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM RDH5 CACNA1F ALG3 ACOX1 ZNF513 IDH3B RPGRIP1 RP9 NUP62 PROM1 POMGNT1 BEST1 TTC8 ADAR NR2E3 RP1 MT-ATP6 CYP4V2 CLRN1 RHO AIPL1 PRPH2 RPE65 CERKL LRAT IMPDH1 IDS PDE6B MCOLN1 SAG GUCY2D RGR LARGE1 MFRP USP45 RLBP1 PCYT1A PPT1 HP_ELEVATED_CREATINE_KINASE_AFTER_EXERCISE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_CREATINE_KINASE_AFTER_EXERCISE CACNA1S SLC25A20 DPM3 DNA2 RYR1 ALDOA ACAD9 LDHA HP_DISTAL_RENAL_TUBULAR_ACIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_RENAL_TUBULAR_ACIDOSIS GATA3 HNF1B SLC4A1 ATP6V0A4 CA2 FN1 HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_IV http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_IV QRSL1 SUCLG1 SLC25A26 COA3 PET117 MRM2 COX5A EARS2 PET100 LRPPRC MRPL12 COX6A2 COX20 COX4I1 GTPBP3 COX16 GFM1 TSFM MRPS14 CARS2 COA6 NDUFA4 MIEF2 MRPS23 MRPS25 GATC COA8 SLC39A8 TIMM22 HP_REDUCED_FACTOR_XIII_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_FACTOR_XIII_ACTIVITY F13B PTPN11 F13A1 MAP2K1 BRAF HP_APLASIA_HYPOPLASIA_OF_THE_HALLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_HALLUX PALS1 JARID2 NSD2 MYT1L KMT2E HOXA13 CCDC32 CTBP1 KCNJ8 FIG4 ZMIZ1 WASF1 NTNG1 CHSY1 BMPR1B CPLX1 LETM1 WDFY3 GDF5 FLNA FGFR2 PTHLH ACVR1 TRIP12 NELFA ABCC9 SLC12A2 SVBP BMP2 TANC2 FGFR1 MED27 GRIA4 MGP KAT6A CNOT3 ACTL6B KCNMA1 GJA1 TCF20 BHLHA9 HUWE1 KAT8 DPYSL5 HS2ST1 BPTF IHH GLI3 PUS7 DDX6 PTPN23 MED13 UBR7 SALL4 NOG NTNG2 GPC4 VAC14 PUF60 FGFRL1 DOCK3 RLIM ACTL6A MAPK8IP3 HPDL HTT BCORL1 HOXD13 KDM4B TNRC6B PSMD12 TRMT1 CHST11 TRAPPC4 SATB1 FBXW11 AGO2 PIGG MADD HP_ABNORMALITY_OF_THE_CALCANEUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CALCANEUS LBR OBSL1 PHGDH TPM2 SATB2 KANSL1 ATP6AP2 ZEB2 HDAC6 FBN1 DYM HADHA COL2A1 FLNB RTL1 TNNI2 CCDC8 ECEL1 COL1A2 HADHB AEBP1 RSPRY1 EZH2 MEG3 GFM2 DLK1 SYT1 ADAMTSL1 FLNA HOXD10 HP_ABNORMAL_TALUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TALUS_MORPHOLOGY MUSK SMPD4 OTUD5 CLTCL1 FIG4 SCYL2 LMNA WRN ERCC5 PEX1 PLAA POR TNNT3 MAF DOK7 EMG1 ERGIC1 MYBPC1 RSPRY1 ZMPSTE24 EXOC7 VAC14 MYH3 PUF60 OBSL1 RBM10 SLC2A10 FGFR2 ZC4H2 SLC29A3 PHEX EN1 TPM2 HOXD10 ADAT3 NUP88 ERCC1 GLE1 ERCC2 TELO2 PHGDH CHRNG NALCN CCDC8 ERCC6 TOR1A SAMD9 MYLPF TNNI2 ARID1B CUL7 PSAT1 NUP188 FLNA MAGEL2 KIF14 RELN EPB41L1 HP_CONTRACTURES_INVOLVING_THE_JOINTS_OF_THE_FEET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONTRACTURES_INVOLVING_THE_JOINTS_OF_THE_FEET ABHD12 ERLIN2 NGLY1 NT5C2 IRF5 LIFR DDHD2 EMD PIEZO2 TBC1D2B COL12A1 GJB1 PYROXD1 OPA1 HLA-DRB1 HSPG2 GLI3 KIAA0319L MT-TE AMER1 CCR6 MYBPC1 CAV1 BCOR FKRP FHL1 PIGN PTRH2 MYH3 JUP SYNE1 LARGE1 LMNA ZC4H2 SLC29A3 PPP2R5D PLEC NOD2 POMT1 COL6A3 LMX1B FLNA ADAT3 FKTN SGCA HRAS ERCC1 SYNE2 CHRNG KY PHF6 KCNK9 MYOT ACTA1 BICD2 COL6A2 FGFR3 BRF1 MYLPF TMEM43 TTN ALS2 HINT1 ERCC8 FBN1 EIF5A MMP2 DSP SGCG ERCC4 CCN2 CRPPA SCARF2 ERCC6 PSMB8 TGFB3 NSUN2 COL6A1 HP_TARSAL_SYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TARSAL_SYNOSTOSIS NOG GDF5 FLNA TBX4 MYH3 MKKS FGFR2 BMPR1B POR SMOC1 LMBR1 FLNB GDF6 GLI3 FGFR3 FBLN1 OFD1 TNNT3 CHSY1 TPM2 FGFR1 NALCN TNNI2 ATP7A MAP3K7 HP_ABNORMAL_TARSAL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TARSAL_OSSIFICATION MATN3 HOXA13 CANT1 PTH1R EIF2AK3 SLC35D1 EBP INPPL1 COL2A1 HP_ABNORMALITY_OF_VITAMIN_A_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VITAMIN_A_METABOLISM CYP7A1 SBDS FARSB SRP54 MST1 DNAJC21 BCO1 PKHD1 TCF4 MTTP SEMA4D SLC51B GPR35 EFL1 DZIP1L HP_PUBERTY_AND_GONADAL_DISORDERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PUBERTY_AND_GONADAL_DISORDERS ERCC2 RNU4ATAC A2ML1 CCDC32 NRAS DUSP6 PCARE HERC2 FLI1 SEMA3A ERCC8 EIF2S3 KMT2D BBS1 MT-ND6 NR5A1 TGFB1 TRMT10A MAMLD1 RAB23 KISS1 FOS GNAS NDP ANOS1 TNRC6B OFD1 WDFY3 SMAD4 STEAP3 DHH IER3IP1 AGPAT2 CBL SPEN MT-TS2 MAP2K1 GHR SOS2 AIP PIK3CA FGF8 POU1F1 RBM28 PLXND1 KCNA1 KCNMA1 SOS1 STAT3 KIAA1549 POLR3B IDH3A ERCC4 SAG CCDC141 PHKG2 HUWE1 BBS9 USP7 PRKCZ CDKL5 TACR3 IMPG2 TOPORS GUCA1B NDN TDGF1 POLG CDH23 SCAPER DMPK HESX1 IFT88 STAR CEP290 TWNK PROK2 EHMT1 YARS2 LMNA SIK1 SOX9 PTCH1 NCF1 FGF17 MRAP FOXL2 HYMAI INSR SPATA7 SUFU LHX4 CLPP RRAS2 MT-TW SNRPN BCL7B PPARG ATM IQSEC2 ROM1 JARID2 RRM2B DMXL2 SNAP29 BMP15 CYP11A1 RAB3GAP2 ARL3 ZMIZ1 ATRX DCC DCHS1 BRCA2 SRA1 RECQL4 PTCH2 KISS1R SIL1 USH2A GBA ELN MAGEL2 PDE6G SOX10 EIF4H SPRY4 RAB18 FLRT3 TULP1 GHSR NONO SVBP RRAS TANC2 DNM1L MED27 CNGA1 FSCN2 FGFR1 BRD4 BUD23 DHX38 TAF13 PDE8B OPA1 CISD2 SNORD116-1 DACT1 CLDN3 PMM2 PTDSS1 FANCB FOXH1 HSPG2 PHGDH KIZ POLR3GL RLBP1 SDCCAG8 HBB PDE4D SMPD1 PWRN1 MEG3 WT1 FANCE PHF6 SPIDR CFAP418 MKRN3 DOCK3 MT-TF DCAF17 PWAR1 CYP17A1 PNPLA6 TUB PRKAR1A MAP3K1 SOX2 FAM111B VPS13B RTL1 RBP3 G6PC1 EIF5A BRCA1 TMEM270 TRIM32 SATB1 CEP19 PDPN AR SRY KMT2C RAD51C SIM1 GATA4 RPL10 GAS1 NLRP3 RIT1 HS6ST1 CA4 ARL2BP DEAF1 SLC37A4 PHF21A RAF1 BBS12 CHRNG PIGQ NFIX CYP11B1 FANCA NPHP1 PROKR2 AKT1 GLA GLI3 EYS BAP1 FGD1 SLX4 SIX3 FSHB GPR161 BMP4 POF1B PRCD WDR11 BBS5 TRIP4 BBS7 H6PD RPGR DLL1 METTL27 ALDOA VAMP7 BRAF CUL4B HS2ST1 PPP1R15B POMC ERCC3 VPS4A ZBTB20 PUS7 MT-CO1 CYB5A ERCC6 HSD3B2 XPA PRLR IFNG NR0B1 POLR3A RP9 LUZP1 TRAF7 RLIM XRCC4 LPIN2 MMP1 OCA2 ACTL6A PYGL RFC2 MAPK8IP3 ALG1 XPC AIRE ANK1 UBE2T GALT DDB2 HSD11B1 IFT172 RAD51 FEZF1 FMR1 HRAS SCARB2 SLC25A22 PROP1 PAPSS2 STUB1 MEN1 CLCNKB MT-TL1 SEMA3E CLIP2 ZMPSTE24 SCN2A ABHD11 LRAT MRPS7 ARSL PIGT LETM1 NEUROD2 POLD1 GLI2 NNT LEP FANCI MT-CO2 CAMKMT CENPT KDM6A DNAL4 CTDP1 STX1A BMP2 PRPF8 EIF2B1 TRIP12 HGSNAT WDPCP AMACR SAMD9 IFT140 FANCD2 AHI1 FANCL LAS1L BEST1 ALG6 KRAS SIX6 MMP14 MGME1 DPYSL5 NDNF MT-CO3 ATAD3A RIN2 ALMS1 DDX6 MED13 SNRNP200 MRAS NEK2 AHR SMC3 LZTR1 NR3C1 IGF1 SMC1A GTF2IRD2 ABCD1 RP1L1 TTC8 HJV DYRK1A LZTFL1 POR COL7A1 ANAPC1 VPS37D PCSK1 CDON PRKACA PCNT RAB3GAP1 TAC3 EIF2B3 FAT4 GNRH1 EXT2 COQ2 PROM1 MRE11 KMT2E GTF2I HDAC8 GALK1 ITGB6 WRN ARL6 SOX3 GPR101 MMP23B ROBO1 SMCHD1 IDH3B CAVIN1 SPTBN1 MRPS22 HFE CTNS SGPL1 DLK1 TSC2 GRIA4 MECP2 POLE DDX3X PLAGL1 ERCC1 ACTL6B PIGP TBL2 BCS1L DMRT3 RFWD3 RGR BBS10 NF1 PDGFB PRPF31 RNF216 CRX MIA3 BPTF CARS1 RERE PRPH2 SLC35A2 PTPN23 CASK UBR7 LHX3 BBS4 AHSG FGFRL1 LHCGR WWOX SOX6 CPLX1 REEP6 DHX37 FOXA2 HPDL CNGB1 ARHGEF18 DNAJC30 POLR1C PUS1 SEMA4A MAB21L2 TP53 SALL1 BCORL1 KDM4B SRCAP TYMP PSMD12 ENTPD1 CHD7 BBIP1 ANTXR1 NSMF OCRL AGO2 PTPN11 WFS1 PSMC3IP RAD21 BRCC3 SLC39A4 FSHR HLA-DQB1 TRIM8 GMNN NSMCE2 ERCC5 WASF1 STAT1 PHKA2 IGFALS SLC29A3 NOTCH2 ZFPM2 PNKP CRB1 MAK CTNNB1 DHCR7 UBE4B MYH3 BBS2 ESR1 BTK CNOT3 KANSL1 KLHL7 CPE TCF20 BSCL2 SMO KAT8 LHB TBX3 CREBBP RPE65 SLC25A13 IDH2 USP9X ALX4 TONSL PRPF6 STK11 BMPR1B HSD17B3 LSS FANCF RDH12 PRPF4 MT-TQ RP2 NECTIN1 FAM161A INPP5K REV3L TRMT1 EP300 TRAPPC4 POMGNT1 FBXW11 DISP1 MMP2 STXBP1 LEPR MADD MYT1L MT-TS1 GTF2IRD1 RAI1 TGIF1 NTN1 IDH1 NTNG1 NUP107 FLII PDE6A SLC3A1 NSD2 IFT27 MKS1 FANCC SHH PRPF3 SCN1B SLC12A2 DHDDS CDKN1C POLA1 TBC1D20 CCDC28B IMPDH1 POLR3K TFR2 PSAT1 EIF2B5 NIPBL AXL NR2E3 MDM2 MT-TH PDE6B IFT74 RHO PTH1R CYP19A1 GNAO1 XRCC2 NODAL PIGF SLC12A3 MC2R CYP21A2 EIF2B2 PEX6 ZNF408 TP63 RP1 MSL3 DMRT1 CERKL AGBL5 GNRHR MKKS MT-ND4 SLC7A14 MAD2L2 PALS1 ABCA4 CTBP1 CNBP SMARCB1 POLR3H IL17RD TRAF3IP1 ZIC2 TXNRD2 LAT2 KCNAB2 GJB2 STS STAT5B ASXL3 PREPL BNC1 TANGO2 NRL CBX2 NF2 MSMO1 SMARCE1 MT-ND1 MLXIPL PGM1 MT-ND5 CDHR1 LRP5 ZNF513 SCP2 LIMK1 SKI PEX1 BAZ1B TERT PDE11A MERTK PPM1B HAMP ARX CLRN1 OTX2 TSC1 CASZ1 PRDM16 NTNG2 PTRH2 HACE1 EIF2B4 CAV1 HLA-DQA1 FKBP6 CLDN4 RASA2 NPAP1 HTT FANCG BRIP1 MAP3K7 GABRD SNORD115-1 FANCM PALB2 HP_APLASIA_HYPOPLASIA_OF_THE_NAILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_NAILS PLEC GPC4 GTF2I SLC35D1 WDR73 PIGA ARHGAP31 RBPJ KCNH1 PIGL EOGT GTF2IRD1 ATP2A2 POLR3A BMPER INPPL1 GJB6 DYNC2LI1 RTL1 SLC25A24 SPEN CDH1 TERT CCDC32 LAMB3 DNAJC21 MCTP2 COL17A1 TERC MBTPS2 PIGQ PIGV TSPAN7 PPP2R5D KDM1A NHP2 SMARCAD1 IFT43 TELO2 SCN1B NOG COL7A1 CDKN1C GJB2 FLNB APC2 PPM1D PIGY EZH2 DPF2 PLAGL1 FTO EED EVC TP63 KCNA1 RNF113A METTL27 PIGP TBL2 SHANK3 ARID1B ATP6V1B2 SHOX SMARCB1 CWC27 MSX1 OTUD5 PIGN GNAO1 FIG4 COL11A1 CDIN1 ITGB4 CDKL5 PLAG1 CASK PARN PIGF DKC1 DOCK6 NOP10 FGFR1 ERCC3 VAC14 MEG3 GPC3 ERCC2 LAMC2 TFAP2A ZMPSTE24 SIK1 SMARCA2 GRHL2 LBR MMP1 IKBKG IFT122 NCF1 HUWE1 DPYD POP1 TINF2 RFC2 HYMAI PIGW SMARCC2 KIF15 ACTG2 APC DNAJC30 TBX4 NPM1 LAMA3 DPH1 CRKL WNT10A SMARCD1 BCR DSP NOTCH2 FGFR2 BCL7B GTF2H5 LRP4 SLC25A22 ARID1A PGAP3 POC1A ADAMTSL2 DMXL2 SOX4 LMX1B BICRA ARID2 RERE DHX37 HOXA13 IHH ALOX12B TRIM8 PIGB RSPO4 SHOC2 ATP6V0A2 SOX11 CLIP2 ACTL6B EVC2 SCN2A MPLKIP ABHD11 PGAP2 NSD1 CKAP2L NECTIN4 ELN NEUROD2 SMARCE1 ITGA6 IGF2 HEPHL1 RSPO1 WNT7A GLI1 EIF4H PNKP ALG3 LAT2 CENPT HMGA2 STX1A GDF5 NSUN2 NEPRO ZBTB20 RLIM ROR2 DLL4 AFF4 B3GALT6 SETD2 PORCN SMARCA4 MLXIPL BHLHA9 TARS1 BUD23 MTX2 CCDC22 HRAS RIPK4 MAPK1 LIMK1 PPP1CB CLDN3 TRRAP TBC1D24 BAZ1B PTDSS1 ODC1 NPR2 ALOXE3 SUZ12 PIGO TBX3 ARX LIG4 GTF2E2 RTEL1 STAMBP KCNN3 WRAP53 JUP SIAH1 ZNF462 USB1 GTF2IRD2 ALG12 OFD1 CPT2 NOTCH1 FKBP6 CTC1 CLDN4 KRT14 LMNA VPS37D COL11A2 EIF5A RPS6KA3 WASHC5 TMEM270 TCTN3 DLK1 STXBP1 RAF1 HP_ABNORMAL_TOENAIL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TOENAIL_MORPHOLOGY SOX4 ARID2 GTF2I SLC35D1 HOXA13 RBPJ KCNH1 BMP2 EOGT RAB3GAP2 GTF2IRD1 KIF11 SHOC2 SOX11 CLIP2 VEGFC INPPL1 GJB6 DYNC2LI1 EVC EVC2 TERT ABHD11 SOX18 GPC4 COL7A1 WNT10A FLT4 GPR101 CKAP2L NECTIN4 ELN ARID1B TERC TRAF3IP2 SMARCE1 RUNX2 IL17RC PPP2R5D WNT7A GLI1 EDAR EIF4H LMX1B KDM1A LAT2 NHP2 RAB7A STX1A GDF5 GJB2 TELO2 NSUN2 DLL4 AFF4 SCN9A IFT52 KIF1A TP63 AIP PORCN SMARCA4 IFT43 BHLHA9 PERP BUD23 EZH2 RETREG1 DPF2 HRAS GJC2 RIPK4 KLHL24 MAPK1 METTL27 TBL2 SHANK3 NOTCH1 LIMK1 PPP1CB PLCD1 CLDN3 ATP6V1B2 PEX1 SHOX CLEC7A SMARCB1 TBC1D24 BAZ1B ARHGAP31 ODC1 COL11A1 SUZ12 KRT14 TBX3 LIG4 PARN RTEL1 UMPS PIGF FERMT1 NOG DKC1 KCNN3 NOP10 FGFR1 ITGB4 WRAP53 JUP ZSWIM6 ZMPSTE24 USB1 EDARADD GTF2IRD2 LMNA SMARCA2 WDR19 LBR CPT2 IKBKG NCF1 PEX6 KRT74 TINF2 RFC2 FKBP6 IL17RA NSD1 SMARCC2 CTC1 CLDN4 APC DNAJC30 TBX4 DOCK6 TAF1 VPS37D CSTB NPM1 MLXIPL DPH1 IL17F CRKL SMARCD1 RAB3GAP1 BCR NECTIN1 MSX1 IFT122 EIF5A DSP TMEM270 TCTN3 COL17A1 EED BCL7B WDR35 LRP4 ARID1A WNK1 HP_DYSTROPHIC_FINGERNAILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSTROPHIC_FINGERNAILS KRT74 STAT3 COL7A1 KRAS BRAF KRT14 SCN9A GJB2 ZBTB20 KIF1A TP63 GJB6 MPLKIP GTF2E2 WNT10A TARS1 MAP2K1 MBTPS2 NECTIN1 RETREG1 ITGB4 ERCC3 COL17A1 RNF113A ZMPSTE24 GTF2H5 RUNX2 ERCC2 LMNA MAP2K2 PKP1 WNK1 HP_SUBUNGUAL_HYPERKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBUNGUAL_HYPERKERATOSIS TRPV3 KRT17 CARD14 MBTPS2 SLURP1 HP_HYPOPLASTIC_FIFTH_FINGERNAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_FIFTH_FINGERNAIL SMARCB1 SMARCD1 PIGF SOX4 ARID2 DPF2 SMARCC2 ARID1B SMARCE1 SOX11 ARID1A SMARCA4 HP_ONYCHOGRYPOSIS_OF_TOENAILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ONYCHOGRYPOSIS_OF_TOENAILS KRT17 KRT6A KRT6B PLEC KRT16 KLHL24 COL7A1 HP_RIDGED_FINGERNAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIDGED_FINGERNAIL TINF2 DVL1 IKBKG WNT5A MSX1 DVL3 FZD2 SLC39A4 EFNB1 HP_NAIL_DYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NAIL_DYSTROPHY PLEC LAMB3 NTRK1 KRAS ATP2A2 KRT6B ACD PARN NFKB2 GJB6 TERT COL7A1 CD151 ITGA6 DNAJC21 RTEL1 COL17A1 TERC FOXP3 NHP2 SMARCAD1 TP63 SCN9A GJB2 UBE2A PERP KLHL24 RNF113A MBTPS2 NOTCH1 KDF1 PQBP1 MAP2K2 SREBF1 STING1 ATP6V1B2 ABCA1 WRAP53 KRT14 ITGB4 KRT5 ZBTB20 MAF MMP1 DKC1 NOP10 ERCC3 ZMPSTE24 ERCC2 LAMC2 LMNA GRHL2 KRT1 IKBKG CD28 MVK TINF2 TNFRSF1B KIF15 AIRE GSN NPM1 LAMA3 DSG1 CTSC DSP KRT17 GTF2H5 JUP NLRP1 ANAPC1 ITGA3 RECQL4 EVC2 MPLKIP KRT83 AAGAB TRPV3 LORICRIN RUNX2 RSPO1 COL14A1 FLNA RAB7A SASH1 BRAF KIF1A PORCN SMARCE1 TARS1 RETREG1 EVC PKP1 MTX2 KRT81 KRT86 POMP STAT3 HOXC13 KRT85 GTF2E2 WNT10A MAP2K1 FOXN1 USB1 CTLA4 IL36RN KRT6A DST KRT74 TGM1 CTC1 NECTIN1 TTC7A AP1S3 ATL1 KRT16 CSTA WNK1 HP_VERTEBRAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTEBRAL_HYPOPLASIA TNFRSF11A LBR RPS19 SLC35D1 ACVR1 KIAA0586 COL11A1 FLNB GLB1 POLR3A PRKAR1A COL2A1 TRPV4 SLC26A2 FUZ SOX2 INPPL1 SUMF1 DDRGK1 RINT1 PDE4D FN1 VANGL1 SLC29A3 TCIRG1 SOX9 CSPP1 NOTCH2 ARSL NSDHL SIX6 HP_VERTEBRAL_WEDGING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTEBRAL_WEDGING PTCH2 COL2A1 CANT1 PTCH1 MBTPS2 TRPV4 FANCC BGN FN1 SUFU ARSB FKBP10 SEC23A IFT43 IFITM5 CCN6 NPR2 HP_VERTEBRAL_CLEFTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTEBRAL_CLEFTING MESP2 OTUD5 HSPA9 KDM6A FLNB LONP1 TBX6 TRPV4 CHRNG RAD21 COG1 COL11A2 CHST3 SOX2 TRIP11 RIPPLY2 COL2A1 SLC26A2 SC5D SLC10A7 SOX5 ALG12 CSGALNACT1 FOXF1 WBP11 HAAO PEX7 STAG2 ARSL ALPL KMT2D SIX6 HSPG2 HP_HYPOPLASTIC_CERVICAL_VERTEBRAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_CERVICAL_VERTEBRAE SOX9 TRPV4 SLC26A2 ARSL FLNB HP_VERTEBRAL_ARCH_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTEBRAL_ARCH_ANOMALY TENT5A NPR2 KDELR2 MBTPS2 ANKRD11 PDE4D SMAD4 RMRP KIF22 JAG1 GNPTAB PRKAR1A CHST3 TONSL RNU4ATAC LTBP3 DDRGK1 HP_C1_C2_VERTEBRAL_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_C1_C2_VERTEBRAL_ABNORMALITY SKI COL2A1 IDUA DDR2 ARSL MADD MMP2 FN1 HP_SPINAL_DEFORMITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINAL_DEFORMITIES EXT1 POMT1 VAMP1 FKRP POMT2 SNAP25 SLC25A1 CHAT AGRN GDAP1 SLC18A3 SLC5A7 COL13A1 MGME1 LARGE1 SNX14 GMPPB SYT2 GNE MYO9A EXT2 HP_CERVICAL_SPINAL_CANAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CERVICAL_SPINAL_CANAL_STENOSIS KANSL1 CSPP1 FGFR3 PHF6 ARSL KIAA0586 IARS2 EXTL3 HP_NARROW_VERTEBRAL_INTERPEDICULAR_DISTANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_VERTEBRAL_INTERPEDICULAR_DISTANCE NPR2 PDE4D RMRP KIF22 GNPTAB PRKAR1A CHST3 TONSL LTBP3 DDRGK1 HP_LUMBAR_KYPHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LUMBAR_KYPHOSIS ATG7 COL2A1 VPS33A RPS6KA3 FGFR3 POLR3GL HP_HYPOPLASTIC_VERTEBRAL_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_VERTEBRAL_BODIES TNFRSF11A LBR RINT1 SLC35D1 PDE4D ACVR1 KIAA0586 VANGL1 INPPL1 GLB1 POLR3A PRKAR1A SLC29A3 TCIRG1 CSPP1 FUZ SUMF1 HP_ASYMMETRY_OF_SPINAL_FACET_JOINTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASYMMETRY_OF_SPINAL_FACET_JOINTS VANGL1 VANGL2 FUZ TBXT CCL2 HP_INFERIOR_LENS_SUBLUXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFERIOR_LENS_SUBLUXATION CYSLTR2 GNAQ SF3B1 BAP1 GNA11 HP_MULTIPLE_ROWS_OF_EYELASHES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_ROWS_OF_EYELASHES TWIST2 CTNND1 FOXC2 YARS2 PUS1 HSPG2 CDH1 HP_CONGENITAL_CRANIOFACIAL_DYSOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_CRANIOFACIAL_DYSOSTOSIS ALX4 PDE4D PRKAR1A SLC25A24 MSX2 HP_HIGH_HYPERMETROPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_HYPERMETROPIA BAZ1B PRSS56 GTF2I GTF2IRD1 RERE PRKCZ HSPG2 FGF3 SPEN CLIP2 USH1C RMRP ABHD11 CASZ1 ESPN PRDM16 SLC6A6 TGM5 MMP23B CDH23 ELN BEST1 PCDH15 SMAD4 GTF2IRD2 LUZP1 EIF4H WDR19 LAT2 CRB1 STX1A NCF1 KCNAB2 LCA5 RAI1 MFRP RFC2 CIB2 FKBP6 TMEM98 CLDN4 DNAJC30 IFT52 VPS37D MYO7A MLXIPL UBE4B CEP78 IFT43 CSTA ARSG BUD23 MT-TS2 IFT122 OGT TMEM270 RPGRIP1 METTL27 TUBB4B BCL7B USH1G TBL2 WDR35 MED25 GABRD PDPN HARS1 GJA1 LIMK1 CLDN3 CLRN1 SKI NMNAT1 HP_MEDIAN_CLEFT_LIP_AND_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEDIAN_CLEFT_LIP_AND_PALATE LHX4 SHH ZIC2 PROP1 TGIF1 SIX3 FOXA2 HESX1 DVL1 WNT5A GLI2 FGFR1 DVL3 DISP1 OTX2 PTCH1 STIL FZD2 FGF8 POU1F1 SLC2A10 FAM20C HP_MODERATE_SENSORINEURAL_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MODERATE_SENSORINEURAL_HEARING_IMPAIRMENT ZNF81 MID2 MECP2 IQSEC2 CLCN4 USP27X STEEP1 FRMPD4 AGTR2 ARHGEF6 PTCHD1 ARX SYP IL1RAPL1 RAB39B HCFC1 PNPLA8 DLG3 FTSJ1 PAK3 GDI1 TSPAN7 UPF3B ZNF41 DMD RPS6KA3 USP9X MED12 ALG13 SLC9A7 ACSL4 ZNF711 CNKSR2 HP_APLASIA_HYPOPLASIA_OF_THE_SACRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_SACRUM PTH1R ROR2 ZIC3 MNX1 RPS19 VANGL2 FUZ TBXT FUCA1 VANGL1 NODAL WNT7A HAAO FANCB POC1A CCL2 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_VERTEBRAL_COLUMN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_VERTEBRAL_COLUMN DYM PTH1R TRPV4 GLB1 SLC35D1 LONP1 COL11A1 GUSB POLR3A TRAPPC2 NODAL GNPTAB SLC26A2 COG4 INPPL1 DDRGK1 ROR2 NFIX COL2A1 NOG TBXT FUCA1 RINT1 DDR2 TCIRG1 ARSB WNT7A SOX9 CSPP1 EIF2AK3 NOTCH2 ARSL NSDHL FN1 EXTL3 TNFRSF11A ZIC3 LBR RAB33B MNX1 RPS19 VANGL2 COMP FGD1 ACVR1 KIAA0586 GALNS FLNB PRKAR1A VANGL1 IDUA FUZ SOX2 SUMF1 CCL2 PDE4D AIFM1 BGN RMRP SLC29A3 HAAO FANCB LFNG POC1A SIX6 HP_ABNORMAL_COCCYX_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_COCCYX_MORPHOLOGY TAF1 COLEC10 COLEC11 SH3PXD2B MASP1 DCHS1 FAT4 TBX15 TRPV4 HP_POSTERIOR_HELIX_PIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_HELIX_PIT CDKN1C GPC4 EP300 IGF2 KCNQ1 KCNQ1OT1 GPC3 HP_CONGENITAL_SENSORINEURAL_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_SENSORINEURAL_HEARING_IMPAIRMENT GNRH1 KARS1 PDZD7 KCNE1 CHD7 GJB2 SLC26A4 GREB1L TACR3 ESRP1 HS6ST1 USH2A KISS1 COX16 IGF1 GNRHR ADGRV1 DUSP6 PROKR2 PROK2 SPRY4 SNAI2 RDH5 USH1C FGF17 CLPP PCDH15 FGF8 RAC1 KISS1R WDR11 RHO PRPH2 FGFR1 POU3F4 PAX3 ROR1 PRPS1 FOXI1 MITF TAC3 RLBP1 WFS1 GJB6 KCNQ1 MAP3K7 NSMF KCNJ10 KYNU LRTOMT HP_ABNORMALLY_FOLDED_HELIX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALLY_FOLDED_HELIX PLCB4 TBX1 SEC24C BICRA TBX2 PIGA FGFR2 COMT RPS23 PIGB SALL1 HOXA2 TWIST1 ACTB FBN2 JMJD1C VPS51 AMMECR1 RECQL4 UFD1 HSPG2 EBF3 BCOR AMER1 EFTUD2 FANCB KANSL1 NFIX BHLHA9 PPP1CB PIGN GNB1 GNAI3 CSPP1 ZNF462 TFAP2A GP1BB LONP1 SLC6A8 CPT2 CREBBP KIAA0586 ARVCF CLIC2 FOXP2 COL2A1 PIGL SLC16A2 MED12 NARS1 RREB1 NAA10 AGO2 SMC1A PPP2R3C FN1 DACT1 SLC26A2 CHD7 BCL11A HIRA SEMA3E TASP1 DDX6 PYCR2 TGFB3 CHUK HP_COCHLEAR_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COCHLEAR_MALFORMATION EYA1 SRCAP FOXI1 SIX1 KCNJ10 SLC26A4 ORC1 COL4A6 HP_EXTERNAL_EAR_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXTERNAL_EAR_MALFORMATION CTH SHH PEX6 SIX1 SIX3 MAFB BCOR PEX11B FGFR1 BRCA2 PURA IGLL1 FAT4 PEX1 FANCE ZNHIT3 STIL GATA4 GLI2 CD79B PEX26 FANCI ZIC2 PLCB4 EDN1 SLX4 PEX3 TP63 FANCA PEX10 PEX12 FREM2 FANCL SALL4 SEMA3E RFWD3 GJA1 DACT1 FGFR2 ERCC4 EYA1 FRAS1 ERF GRIP1 XRCC2 FANCB BLNK TUBB GNAI3 CCBE1 PEX16 PEX5 IGHM KIF1A PEX2 NAA10 DISP1 LRRC8A PEX13 FGF8 ADAMTS3 FGFR3 ESCO2 DSE TBCE FANCF SIX5 PEX14 FANCC TCF3 ANK1 UBE2T CHST14 FANCG FGD1 PIK3R1 SALL1 CD79A PEX19 TWIST1 RAD51 MAPRE2 BRCA1 CHD7 BRIP1 FANCD2 FANCM PALB2 CHN1 MAD2L2 RAD51C HP_UNDERFOLDED_HELIX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNDERFOLDED_HELIX SLC16A2 COL2A1 RECQL4 FN1 SLC6A8 HP_HYPOPLASIA_OF_THE_COCHLEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_COCHLEA EYA1 SLC26A4 SIX1 SIX5 FOXI1 KCNJ10 DDX11 HP_HYPOPLASTIC_HELICES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_HELICES PLCB4 FRAS1 FOXP1 GNAI3 TFAP2A PAH AGO2 PBX1 AASS HOXA2 HP_PROMINENT_ANTITRAGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_ANTITRAGUS RAB3GAP2 B3GAT3 KAT6A CHST3 PIGK HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_MIDDLE_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_MIDDLE_EAR FRAS1 NOG SIX1 EYA1 ABCC6 SIX5 ENPP1 POU3F4 GJB2 DDR2 NOTCH3 AIRE GDF6 SETD2 COL1A2 APC2 BPTF NKX2-1 SETBP1 COL1A1 IDS SYK PSMD12 NSD1 EFTUD2 RAI1 GJB6 TFAP2A HP_ADULT_ONSET_SENSORINEURAL_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADULT_ONSET_SENSORINEURAL_HEARING_IMPAIRMENT ERCC6 GJB6 ERCC8 DKK1 DGUOK HP_BILATERAL_SENSORINEURAL_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_SENSORINEURAL_HEARING_IMPAIRMENT ITGA2B MT-ND1 FUS MARS2 PSAP GP1BA STRC MT-TL1 ARSA MT-ND6 SLC12A2 MYH14 MT-ND5 MT-CO2 MPLKIP CHCHD10 GTF2E2 MYO6 POGZ LHFPL5 MT-TV COA8 NARS2 MYO7A ATP6V0A4 MT-TF C9orf72 CLCNKB ERCC3 POLG TBK1 IGF1 GP1BB CATSPER2 MT-TW MPEG1 YARS1 KCNE1 ERCC2 RTTN BSND MT-CYB MT-TQ SPTBN1 SQSTM1 ACOX1 KCNQ1 POU3F4 TBC1D24 VCP MRAS MT-TK DSPP DNAJC3 DNAJC19 TARDBP IARS2 GRXCR2 CD109 TARS1 ITGB3 DCAF17 MT-TC CLCNKA CHSY1 LOXHD1 RNF113A MT-TS2 ITGA2 ATG7 MITF TUBB3 GTF2H5 ACTG1 MT-TS1 MT-CO3 RBMX ADAMTSL1 TWNK MT-CO1 HP_ABNORMALITY_OF_THE_STAPES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_STAPES NOG SETBP1 ABCC6 POU3F4 COL1A1 IDS ENPP1 GJB2 PSMD12 GDF6 GJB6 COL1A2 BPTF HP_APLASIA_HYPOPLASIA_OF_THE_FALLOPIAN_TUBE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_FALLOPIAN_TUBE DHH WNT4 WNT3 DCAF17 AR HP_URETHRAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETHRAL_STENOSIS BAZ1B TBX1 GTF2I RIN2 MAP3K7 GTF2IRD1 CLIP2 ELN PARN TERT ABHD11 RTEL1 CDC45 FERMT1 DKC1 LAMB3 FLT4 NOP10 ITGA6 WRAP53 TERC USB1 GTF2IRD2 LAMC2 EIF4H FLNA ITGB4 LAT2 NHP2 MMP1 STX1A NCF1 BNC2 MKKS TINF2 RFC2 TP63 FKBP6 PLEC COL7A1 CTC1 CLDN4 DNAJC30 VPS37D NPM1 MLXIPL LAMA3 BUD23 TMEM270 METTL27 BCL7B POLA1 TBL2 LIMK1 CLDN3 PKP1 HP_ABNORMAL_SPERMATOGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SPERMATOGENESIS BRCC3 GNRH1 CATSPER2 GATA4 ARMC2 BPY2 SUN5 STRC DDX3Y HS6ST1 BRCA2 RPS4Y2 CFAP70 XRCC2 CNBP STK11 FANCE CFTR USP9Y NR5A1 SPINK2 MCM8 KISS1 DNAH9 C14orf39 TEX15 VCY GBA GNRHR SLC29A3 STEAP3 ZFPM2 FANCI LHCGR DAZ2 PROKR2 TXNRD2 SYCE1 SPRY4 HFE DAZ3 SYCP2 SOHLH1 CATSPER1 TEX14 BMP2 SLX4 CDY2A DAZ1 FANCA ZMYND15 FSHB RBMY1A1 PRY2 FGF8 KISS1R WDR11 FANCL FGFR1 TDRD9 DCAF17 WT1 CEP19 SRY VAMP7 SCP2 DMRT3 RFWD3 BLM NSMF ERCC4 HSFY1 CLDN2 DNAH10 TEX11 BCL10 PMFBP1 CHD7 FANCM ADGRG2 FANCB LHB NANOS1 AR MEIOB TACR3 KDM5D TSPY1 TAF4B FGFR3 KLHL10 NR0B1 SEMA3A SYCP3 SOX9 MC2R NR3C1 ALMS1 STAR KIT CFAP65 CATIP DNAH17 WWOX DUSP6 CFAP47 PROK2 FANCF M1AP HJV FGF17 MRAP FANCC POR MAP3K1 ANK1 UBE2T DHX37 FANCG HSD3B2 DAZ4 RAD51 DZIP1 CFAP91 BRCA1 ANTXR1 ANOS1 BRIP1 FANCD2 OCRL TAC3 NNT ATM PRY PALB2 POC1A CDY1 MAD2L2 RAD51C HP_CALCIUM_OXALATE_NEPHROLITHIASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALCIUM_OXALATE_NEPHROLITHIASIS OPLAH SLC36A2 ADCY10 HOGA1 SLC6A19 SLC6A20 GRHPR SLC26A1 AGXT HP_RENAL_HYPOPLASIA_APLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_HYPOPLASIA_APLASIA WNT4 RPS28 NF1 HMGA2 TFAP2A RPS15A GTF2I STRA6 BCOR HS6ST1 ADA2 MEOX1 SEMA3A GTF2IRD1 KNSTRN HNF1B RAI1 RPL18 DEAF1 DYNC2LI1 MUC1 COX14 SIX3 FANCB TAF13 FLII HOXD13 ANKLE2 MBTPS2 WDR19 ANOS1 TCTN3 SF3B4 RPL35 FBXW11 GEMIN4 RPL35A GLI2 ERCC8 RTTN FANCA TNXB PHC1 PROKR2 NOTCH2 CENPJ DYNC2I1 METTL5 ZIC3 PYCR2 GLI3 GATA1 CENPF TXNL4A FANCC SLX4 IFT80 PRKAR1A TP63 GREB1L GDF6 BMP4 TSR2 FREM2 APC2 FGFR3 FGF8 DYNC2I2 EYA1 CHD7 TGIF1 ARX SDCCAG8 METTL27 CIT TBL2 MCPH1 SOX10 RPS27 RFWD3 ARID1B FREM1 MDM2 DYNC2H1 KIF14 ERCC4 LRP4 CDK6 GRIP1 CDC42 DUSP6 TACR3 CCDC141 XRCC2 ZIC2 KCNJ2 PPP1R15B MKS1 SALL1 CDON CEP152 FGF17 FGF20 SON SASS6 RPS20 FAT4 PORCN RPL5 TRAPPC14 TMEM67 SALL4 ASPM FOXH1 RET PDE6D ZNF699 FGFR2 RARB PQBP1 NDUFAF3 PIK3CA SHH RPS29 FANCL LMBRD1 PAX2 RPS10 WDR35 RPS26 AFF3 NCF1 COG6 DCHS1 RFC2 ATRX RPL26 NODAL PUF60 KCNJ5 APC FAM149B1 DNAJC30 UBE2T TTC37 B3GLCT PIK3C2A ITGA8 SRCAP PROK2 CEP55 RAD51 HESX1 PRMT7 CD96 CPLANE1 BCL7B MCM5 PTPN11 WDR62 RPS24 GAS1 MAD2L2 CCNQ SEC24C FGFR1 STIL ZPR1 GATA3 SIX1 RPL27 FANCI COMT PAX1 INTU SEMA3E JMJD1C BRCA2 CLIP2 THOC6 EVC DYRK1A FANCE ABHD11 SH2B1 FANCF COPB2 IL17RD NSD1 ELN NADSYN1 ROBO2 WBP11 MFSD2A DCC NIPBL KMT2D GLI1 NSDHL EIF4H ALDH18A1 NCAPG2 TBX18 CEP135 LAT2 HSPA9 STX1A FLRT3 PBX1 TMEM216 STS JAG1 DLL4 FUZ RPL15 FANCD2 PPP2R1A DHCR7 RPS19 SETD2 SCO2 RAD21 MLXIPL RPS7 BUD23 RIPK4 VANGL1 ANKRD17 HIRA CEP63 PIK3CD CDK5RAP2 PIEZO2 DACT1 LIMK1 IQSEC2 CLDN3 ATN1 FRAS1 TRRAP MYOD1 FGF10 TBX1 BAZ1B SKIV2L RPL11 KIF7 NDNF ERCC6 KNL1 DHCR24 TBX3 EVC2 OFD1 UFD1 RNU4ATAC GPKOW WDR11 XRCC4 RPL31 GDF3 NDUFS2 LHX1 NAA10 PTCH1 CEP120 INSL3 WNT3 GTF2IRD2 GP1BB ARL6 LEMD3 KDM6A SIX5 TBC1D24 MKKS REN PHGDH FKBP6 ARVCF POR TDGF1 CLDN4 VPS37D NDUFB8 FEZF1 FANCG KIAA0753 SURF1 NCAPD3 CTU2 DLL1 RREB1 PPP2R3C DISP1 BRCA1 TMEM270 KCTD1 NFIA RPS17 BRIP1 HAAO RMND1 SPRY4 KYNU FANCM PALB2 SUFU HS2ST1 RAD51C HP_RENAL_TUBULAR_EPITHELIAL_NECROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_TUBULAR_EPITHELIAL_NECROSIS CPT2 SLC22A12 LAMB3 LAMC2 LAMA3 HP_APLASIA_HYPOPLASIA_OF_THE_UTERUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_UTERUS GNRH1 FIGLA DHH NR5A1 FSHR FOXL2 CHD7 GATA3 CTBP1 LARS2 BMP15 CYP11A1 TP63 STRA6 AR TACR3 HS6ST1 ERAL1 WNT4 KISS1 NUP107 TOE1 CYB5A HNF1B POLR3H NDUFB11 LETM1 GNRHR NSD2 WNT7A SPIDR FGFRL1 DUSP6 DCAF17 PROKR2 BMPR1B PROK2 SPRY4 CYP17A1 CPLX1 MRPS22 IRF6 MYRF NIN GLI3 FGF17 DHX37 MINPP1 SOHLH1 HCCS BNC1 RBM8A CLPP PPP2R1A B3GLCT FGF8 CYP11B1 COX7B C14orf39 ESR1 KISS1R WDR11 FGFR1 ADH5 TAC3 ARID1B NSMF PSMC3IP HP_BILATERAL_CRYPTORCHIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_CRYPTORCHIDISM CYP17A1 KIF7 ATP6V1A ATP6V1E1 ODC1 LSS FGD1 TMEM216 RPL10 FDFT1 POLE AR ZBTB20 TWIST1 FAM149B1 DNAJC19 WDR37 SRY KLHL15 OFD1 MASP1 KIAA0753 COLEC11 CPLANE1 COLEC10 RIPK4 IGBP1 TCTN3 PDE6D AMH C2CD3 MCM5 AMHR2 FARS2 NONO HP_RENAL_HAMARTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_HAMARTOMA CDC73 TSC1 TSC2 DIS3L2 IFNG CDKN1B MVK HP_TESTICULAR_DYSGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TESTICULAR_DYSGENESIS NR0B1 DHX37 SOX9 ARX CBX2 GATA4 SRY WT1 NR5A1 DMRT1 MAP3K1 DHH TSPYL1 HP_URETHROVAGINAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETHROVAGINAL_FISTULA DYNC2I1 DYNC2I2 WDR35 DYNC2H1 UBR1 IFT80 HP_URETHRAL_DIVERTICULUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETHRAL_DIVERTICULUM EFEMP2 PLD1 MAMLD1 FBLN5 AR HP_HYPOPLASIA_OF_THE_VAGINA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_VAGINA GATA4 IRF6 CYB5A SOX9 WT1 MAP3K1 SRY NR5A1 NR0B1 VAMP7 DMRT3 CYP17A1 ZFPM2 B3GLCT WWOX DHX37 CYP11B1 HP_FEMALE_EXTERNAL_GENITALIA_IN_INDIVIDUAL_WITH_46_XY_KARYOTYPE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEMALE_EXTERNAL_GENITALIA_IN_INDIVIDUAL_WITH_46_XY_KARYOTYPE CYP11A1 HSD3B2 CYP17A1 HSD17B3 GATA4 CYB5A SOX9 WT1 MAP3K1 SRY NR5A1 NR0B1 VAMP7 DMRT3 AR ZFPM2 WWOX DHX37 HP_DECREASED_TESTICULAR_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_TESTICULAR_SIZE GNRH1 SIM1 GATA4 DMXL2 RPL10 THOC2 DUSP6 HS6ST1 CDKN1C SEMA3A ARL6 XRCC2 CFTR KISS1 SOX3 MBTPS2 ANOS1 C14orf39 NR5A1 LEP LEPR PROKR2 DAZ2 DAZ3 GLI3 DHX37 TEX14 RAB18 SNRPN FSHB POLA1 CCDC28B FAM111A WDR11 FGF8 CHD7 DCAF17 WT1 KISS1R SRY AXL VAMP7 SOX10 DMRT3 MAP3K7 CUL4B CCDC141 TACR3 FANCM MAGEL2 NANOS1 MEIOB SATB2 TSPY1 ZMYND15 FGF17 HSPG2 BBS1 CYB5A NDN ALMS1 XPA PROK2 TOGARAM1 USP9Y PQBP1 LHCGR NR0B1 WWOX HDAC8 OCA2 ERCC4 FOXA2 ERCC2 PHF6 XPC DDB2 HSD3B2 FEZF1 FMR1 HESX1 KLHL10 OGT DNAJC19 GNRHR SYCP3 NSMF ARX PROP1 BRCC3 SLC39A4 FGFR1 ZPR1 CYP11A1 SEMA3E DDX3Y ATRX SRA1 ERCC5 KDM5C MCM8 B4GAT1 IL17RD TEX15 SLC29A3 PHGDH SOX9 RSPO1 DCC ZFPM2 CUL7 SPRY4 CTDP1 FLRT3 DAZ1 RLIM SAMD9 CYP11B1 CHRM3 TDRD9 RBMY1A1 FBN1 SOHLH1 CYP17A1 PMM2 LHX4 NDNF PHF8 GLI2 TAF4B OTX2 ERCC3 POU1F1 KCNJ6 SYCE1 TBC1D20 DKC1 MAP3K1 GBA2 DAZ4 CFAP47 TEX11 TCTN3 TAC3 HP_HYPOPLASIA_OF_PENIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_PENIS GNRH1 EXT2 PROM1 HOXA13 GTF2I KIAA0586 HDAC8 PIGA DUSP6 BUB1B SIX3 COLEC10 DIS3L2 ARNT2 PCARE HERC2 SEMA3A EIF2S3 KMT2D BBS1 ARL6 FGFR1 RAB3GAP1 INPP5E MAMLD1 KISS1 HOXD13 ANOS1 MMP23B OFD1 MCTP2 NR5A1 C2CD3 GLI2 UBR7 ROBO1 SMCHD1 IDH3B ZIC2 SPTBN1 MYRF DAG1 DHX37 SPEN RAB18 FZD2 SGPL1 ZEB2 CDKN1C SIN3A KIAA0753 IFIH1 FREM2 SAMHD1 COX7B WDR11 LMOD3 FGF8 B9D2 DCAF17 EZH2 KCNA1 NXN PIGP TBL2 DMRT3 KIAA1549 GATA4 IDH3A DYNC2H1 SAG RGR CCDC141 PRPF31 KATNIP OTUD5 GRIP1 TACR3 PROKR2 FIG4 CRX BBS9 RYR1 STT3A SATB2 CDON USP7 RERE PRKCZ ACTB CDKL5 PRPH2 PLAG1 IMPG2 CASK TOPORS CEP41 GUCA1B NDN FAT4 SHH DVL1 ARCN1 SCAPER MADD STXBP1 HESX1 FOXH1 VAC14 ALMS1 IFT88 CEP290 LIG4 ROR2 PROK2 CDT1 DVL3 POMGNT2 WWOX SIK1 FANCL MNX1 NCF1 AR REEP6 FGF17 HUWE1 ERCC2 POLE SPATA7 PHF6 ATRX HCCS CNGB1 NODAL ARHGEF18 LHX4 DNAJC30 GMNN SEMA4A SALL1 DISP1 CDH2 SETBP1 SOX3 YWHAE SNRPN COG5 CHD7 UBE2A BBIP1 ADAR PRRX1 BCL7B NSMF PTPN11 B4GAT1 RAD21 ROM1 KLHL41 DMXL2 LZTFL1 SOX2 ALKBH8 POLR1D DHDDS TRIM8 RAB3GAP2 ARL3 INTU SRA1 ORC1 POR DYRK1A CDC45 WDR35 POMT2 ORC4 UBR1 KIAA1109 SRY USH2A ELN SLC29A3 TREX1 TBCE KDM5C PDE6G ZFPM2 EIF4H COL4A1 LMX1B SPRY4 ZBTB16 PNKP CRB1 HMGA2 OTX2 GLI3 FLRT3 TULP1 MAK PBX1 CRPPA NEK1 HERC1 DHCR7 UBE4B TP63 GMPPB MYH3 CNGA1 POLR1B FSCN2 STIL BRD4 BUD23 DHX38 CCDC22 UBA1 TBL1XR1 KLHL7 SNORD116-1 MAGEL2 CPE PIEZO2 DACT1 CLDN3 ATP6V1A B3GALNT2 PNPLA6 TSPYL1 LHB HSPG2 KIZ TBX3 TTC8 LARGE1 RLBP1 RPE65 TCF4 EHMT1 SDCCAG8 KAT6B XRCC4 SOX9 PWRN1 DPYSL5 POMGNT1 CFAP418 MKRN3 PRPF6 PWAR1 ADAT3 CYP17A1 KDM6A RDH12 POLR1C TUB PRPF4 ARX TBC1D20 ISL1 MAP3K1 TDGF1 NR0B1 TOE1 KLHL15 FEZF1 KLHL40 RP2 RBP3 BBS5 DLL1 FAM161A ERCC6 TWIST2 WASHC5 TMEM270 BBS4 RXYLT1 BBS2 TRIM32 GHR WT1 TAC3 CEP19 ALX4 PDPN SUFU CILK1 SIM1 THOC2 GPC4 CDH11 HS6ST1 CA4 GTF2IRD1 ARL2BP KIF7 FKRP PHF21A SLC25A24 SC5D FANCB BBS12 PDE6A CHRNG RSPO2 PIGQ RTTN IFT27 MKS1 NPHP1 POMK DYNC2I1 DHODH EYS TCOF1 LSS PRPF3 SCN1B IFT80 ATAD3A WNT5A GPR161 CCDC28B DNAJC19 BMP4 PRCD IMPDH1 DYNC2I2 MBD5 BBS7 TGIF1 RPGR SMO ERCC8 KISS1R METTL27 NIPBL AXL NR2E3 VAMP7 SOX10 SEMA3E CDC6 PDE6B IFT74 RHO PSMD12 CUL4B DCX LMNB2 GNAO1 CYB5A PPP1R12A GRIA3 HSD3B2 NDUFB11 RNASEH2B GPC3 ECE1 TOGARAM1 SRD5A2 RP9 LUZP1 NEB RFC2 ZNF408 ANK1 RP1 POMT1 STT3B CERKL AGBL5 IFT172 GNRHR ALG12 ORC6 MKKS DDX6 GAS1 SLC25A22 SLC7A14 ABCA4 ZPR1 RNASEH2C CLIP2 SCN2A ABHD11 MTM1 FANCF LRAT OPHN1 RNASEH2A IL17RD MEGF8 NEUROD2 IGF2 DCC LEP LAT2 CENPT STX1A KCNAB2 PRPF8 MINPP1 FKTN HGSNAT WDPCP RLIM SAMD9 NRL IFT140 FANCD2 AHI1 MLXIPL ACTA1 CDHR1 BEST1 ZNF513 LIMK1 SKI SIX6 FRAS1 TRRAP BAZ1B NDNF SUZ12 MERTK CLRN1 SNRNP200 RNU4ATAC EBF3 NEK2 CASZ1 RIPK4 AHR PRDM16 SMC3 PTCH1 WNT7A TAPT1 SMC1A GTF2IRD2 PAFAH1B1 RP1L1 THOC6 FKBP6 NSD1 CHD4 CLDN4 NPAP1 VPS37D PRKDC CTU2 EED FAM111A RNF113A GABRD SNORD115-1 BBS10 HP_LARYNGEAL_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARYNGEAL_HYPOPLASIA SF3B4 PRRX1 KRAS INTU HYLS1 HP_LARYNGEAL_CLEFT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARYNGEAL_CLEFT GLI3 EDN1 SPECC1L CAPN15 SPTBN1 HP_LARYNGOTRACHEOMALACIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARYNGOTRACHEOMALACIA EMC1 KIF22 FLNB COL2A1 HAAO HK1 TONSL TRRAP HP_REPETITIVE_COMPULSIVE_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REPETITIVE_COMPULSIVE_BEHAVIOR FOXP1 WDR26 GRN TSC2 DNAJC19 AUTS2 MECP2 NR2F1 SYT1 TSC1 SPTBN1 HP_NO_SOCIAL_INTERACTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NO_SOCIAL_INTERACTION SH2B1 GFM2 ACOX1 EXTL3 IQSEC2 HP_AUDITORY_HALLUCINATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUDITORY_HALLUCINATIONS CDH2 NPRL3 FIG4 MMACHC DNAJC5 NPRL2 DEPDC5 RELN CLN6 SON CEP85L LGI1 CACNA1A HP_INAPPROPRIATE_SEXUAL_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INAPPROPRIATE_SEXUAL_BEHAVIOR GNAS ATP7B GRN MAPT PSEN1 HP_OBSESSIVE_COMPULSIVE_TRAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OBSESSIVE_COMPULSIVE_TRAIT PANK2 YWHAG GABRG2 STX1B ADGRV1 OCA2 MAGEL2 CLN5 STXBP1 GABRA1 SCN2A SYNGAP1 SCN9A SNRPN USP7 SLC45A1 ELN SCN1B GABRD SCN1A MLXIPL DMPK FMR1 NDN GATAD2B HCN1 FMO3 PCDH19 HP_APLASIA_HYPOPLASIA_OF_THE_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_EAR NSD2 RPS28 RPS15A FAT4 ADA2 EYA1 RPL18 FOXI1 RTL1 HNRNPK PLEC MMP23B SF3B4 RSPO2 RPL35 RPL35A NFIX PLCB4 POLR1D EDN1 GLI3 GATA1 TCOF1 SPEN CHST3 NELFA MAP1B POLA1 TSR2 MBD5 NIN FGFR3 WNT3 SEMA3E RPS27 CDC6 FGFR2 CHD7 FBXO11 CTBP1 COG1 TBX15 SALL1 TWIST1 RERE PRKCZ SLC26A4 MAF OTUD6B RPS20 RPL5 AMER1 PCNT PIGN EFTUD2 MEG3 ADNP CDT1 MED12 FKRP TFAP2A RBM10 LUZP1 INTU SPOP RPS29 FANCL RPS10 RPS26 DCHS1 TP63 POLE ATRX RPL26 KIF15 ORC1 GMNN B3GLCT HS6ST2 ITGB4 DHODH DACT1 PSMD12 FGF3 CHUK SMARCA2 ORC6 MCM5 HDAC8 CNOT1 SETD1A RPS24 PIGG POC1A SIX1 HOXA13 B3GAT3 RPL27 TWIST2 SMAD4 HOXA2 SLC35C1 MAPRE2 PAK1 TTC37 CDC45 FANCF PCGF2 ORC4 CPLX1 KCNJ10 RSPRY1 ABHD5 LMBRD1 STAG2 HSPA9 KCNAB2 PBX1 POLR1A PIK3CA RPL15 RPS19 UBE4B BPTF CRPPA POLR1B CENPJ KCTD1 LAS1L RPS7 POMT2 MSX2 SKI FGF10 RPL11 GNAI3 GREB1L SIM1 HSPG2 BMP2 RNU4ATAC CASZ1 RIPK4 PRDM16 RPL31 FKTN POMT1 SIAH1 ZNF462 DDX11 SIX5 POLR1C LETM1 PAM16 AGA EIF5A TCTN3 RPS17 LARGE1 FANCB GABRD PDPN DLK1 RIC1 GBA HP_APLASIA_HYPOPLASIA_OF_THE_INNER_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_INNER_EAR SIX1 EYA1 SIX5 KCNJ10 FGF3 GREB1L SLC26A4 FOXI1 DDX11 HP_ABNORMAL_PROSTATE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PROSTATE_MORPHOLOGY RAD51 RAD51D GREM1 RNF43 TP53 PALB2 PRTN3 HLA-DPB1 RAD51C BRCA1 HLA-DPA1 ZFHX3 CHEK2 MAD1L1 RNASEL NAB2 AR STAT6 EPHB2 NBN CDKN2A HGD BTK BARD1 AAGAB MDM2 MXI1 CDH1 PTEN BRCA2 APC CTLA4 BMPR1A MRE11 PHF6 BRIP1 COL14A1 KLF6 RAD50 PTPN22 HP_CONGENITAL_BILATERAL_HIP_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_BILATERAL_HIP_DISLOCATION COL12A1 PLOD1 CLTCL1 COL1A1 TELO2 FBLN1 SHROOM4 HP_LIMITED_HIP_MOVEMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITED_HIP_MOVEMENT PTH1R SPEG LGI4 PIGY RNU4ATAC ERLIN2 MATN3 HACD1 GNPTAB GNB2 ACTA1 NALCN HGD PIEZO2 TPM3 GARS1 SELENON NIPA1 ZBTB20 HSPG2 KAT6B EXT1 P4HTM RYR1 ERGIC1 SLC10A7 FBN2 UNC80 BIN1 COMP MYH3 NSD1 ZMPSTE24 PNPT1 TTN ZC4H2 LMNA FGFR3 FKBP10 MYH7 MYL2 TPM2 DST TELO2 KY TNNT1 F8 BICD2 CHST3 COL2A1 MYLPF SETD2 APC2 TRPV4 SLC26A2 MAP3K20 MMP2 GPC6 MAP3K7 SLC6A9 HS2ST1 DYSF UBA1 EXT2 ITGA7 HP_HYPOPLASIA_OF_THE_FEMORAL_HEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_FEMORAL_HEAD IFNGR1 TRAF3IP1 IDUA POP1 SLC26A2 HP_ACETABULAR_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACETABULAR_DYSPLASIA ERGIC1 AP4B1 MYO18B EIF4A3 RPS15A B3GALT6 COMP AP3B1 POLR1A GUSB AP4M1 AP4E1 AP4S1 SLC26A2 GLB1 EXTL3 TIMM22 VPS33A HP_FLATTENED_FEMORAL_HEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLATTENED_FEMORAL_HEAD RAB33B RSPRY1 COL2A1 TRPV4 GLB1 TRAPPC2 HP_LARGE_ILIAC_WING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_ILIAC_WING ATP7A SMAD4 RNU4ATAC B3GALT6 AMER1 HP_DELAYED_PROXIMAL_FEMORAL_EPIPHYSEAL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_PROXIMAL_FEMORAL_EPIPHYSEAL_OSSIFICATION TSHR RNU4ATAC POU1F1 MATN3 LHX3 DUOX2 DUOXA2 IYD PROP1 HESX1 LHX4 TG SLC5A5 B3GALT6 COL2A1 TSHB TPO HP_HYPOPLASTIC_PUBIC_RAMI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_PUBIC_RAMI NSD2 CPLX1 PIGG CTBP1 NELFA LETM1 HP_IRREGULAR_ACETABULAR_ROOF http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRREGULAR_ACETABULAR_ROOF COL10A1 TRPV4 COMP COL2A1 CCN6 UFSP2 HP_HYPOPLASTIC_PELVIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_PELVIS RSPO2 COL2A1 CUL7 COMP ERCC6 ERCC8 CCDC8 OBSL1 CEP120 WNT3 WNT7A SMARCAL1 NSDHL POC1A PORCN HP_HIP_OSTEOARTHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIP_OSTEOARTHRITIS PTPN2 COL2A1 FRZB CLCN7 TRPV4 PTPN22 COMP SMAD3 TRAPPC2 IL2RB HLA-B IL2RA ANKRD55 ACAN CD247 GDF5 STAT4 HP_SEVERE_INTRAUTERINE_GROWTH_RETARDATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_INTRAUTERINE_GROWTH_RETARDATION TBCE INSR EMG1 ESCO2 CEP57 H19 IGF1 POLR3A NIN IGF2 HP_MODERATELY_SHORT_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MODERATELY_SHORT_STATURE SLC39A13 SLC26A2 HOXD13 RUNX2 SELENOI HP_SEVERE_POSTNATAL_GROWTH_RETARDATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_POSTNATAL_GROWTH_RETARDATION CPLX1 RPL10 GATA3 CTBP1 HDAC8 IL2RB TBC1D20 CD247 RYR1 INSR GNPTAB LHX4 SHPK TSHB BLM STAT4 NIN PTPN22 ANKRD55 EMG1 POU1F1 BRD4 PTPN2 FOXG1 SMC3 ERCC8 PPP1R15B IGF1 LETM1 NIPBL NSD2 TRMT10A SMC1A IL2RA WFS1 FGFRL1 RAD21 HP_FAILURE_TO_THRIVE_SECONDARY_TO_RECURRENT_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FAILURE_TO_THRIVE_SECONDARY_TO_RECURRENT_INFECTIONS IL7R CD3E RAG2 PTPRC RAG1 CD3D CD247 HP_FEEDING_DIFFICULTIES_IN_INFANCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEEDING_DIFFICULTIES_IN_INFANCY MCCC1 ERCC2 ATP7A SEPSECS DYNC2LI1 A2ML1 PEX6 HDAC8 BUB1B SIX3 ZNHIT3 DNM1L KRAS PTPN23 HERC2 SLC18A3 TPM3 ERCC8 KMT2D PTCH1 FGFR1 PDHA1 DPM1 RTL1 SLC9A6 WDR19 KANSL1 SPOP TGFBR2 COL2A1 TCTN3 MMP23B RERE DLL1 TDGF1 FGF8 TRAPPC4 PNPO HIVEP2 ZIC2 SPTBN1 CASK TXN2 BRAF KDM5B TXNL4A CBL SPEN PEX3 ERCC6 MAP2K1 RPGRIP1L PEX10 CDKN1C SEC63 CDH15 SIN3A PEX12 SOS2 KCNK9 SCNN1B TSHB MYO9A SCN4A ARL13B MRPS16 POU1F1 SLC16A2 GRHL3 SLC52A1 EZH2 NDN ASXL2 PLXND1 ERCC1 FOXH1 INPP5E MT-TE CHRNA1 SIK1 CSNK2B ZMYND11 BCS1L TUBB3 SOS1 SPG11 TRPM3 TRAPPC12 EP300 CBY1 ARL3 MAP2K2 TP63 CLEC7A SLC46A1 SNRPN TCTN1 CLCF1 STXBP1 OTUD5 HACD1 NRAS BCKDHB ASL SATB2 GPT2 USP7 CARS1 GLI2 PRKCZ PEX16 PLAG1 SMARCC2 MMAB HSPG2 TOP3A SHH NALCN EMG1 PEX5 LHX3 COX16 DMPK PPP1CB PIGN ZNF699 DLEC1 CTCF MEG3 UNC80 ADNP PSAT1 SRP54 COL13A1 UQCRFS1 FARS2 FKRP PQBP1 DYNC2I1 RYR1 SLC6A8 CYP11B2 MED12L CDH1 TPM2 ATP6V0A2 TMEM237 CUX1 CASR FDFT1 ASXL1 PHF6 CEP120 PCCA TGIF1 KIF15 RARS2 DYRK1A TMEM67 UBTF TSEN2 HNRNPK CNTN1 SYT2 DISP1 DLK1 PEX19 RRAS2 UGDH SETBP1 COG5 SLC25A1 CHD7 PNPT1 FGFR2 OCRL CLCN6 AVPR2 RAD21 TALDO1 ITGA7 EPB41L1 SEC24C PURA PAX8 PTPN11 COLQ PPP1R21 IYD KIAA0586 SCYL2 AHI1 MBD5 COMT UBE3A YIF1B RAB3GAP2 SLC5A5 HLCS TFG JMJD1C MYO1H DCHS1 HADHA PRPS1 COG1 ORC1 PGAP1 TSHR TCTN2 SCNN1A PGAP2 SDHAF1 SH3BP2 UBB ARHGAP29 DEAF1 CHAT BRSK2 MAGEL2 TRAF3IP2 NODAL IL17RC ACTN2 TANGO2 CAMK2B OCA2 HRAS VPS13B ITCH HMGA2 CDON SMPD1 RRAS TOR1A RNF13 AFF4 PPP2R1A DHCR7 HADH TAOK1 UBE4B KIRREL3 STIL BRD4 GTPBP3 TSFM CCDC22 GOT2 ASH1L SYNGAP1 RAB11A TUBB6 COX8A DPYS DGUOK CISD2 TGFB1 HIRA PIBF1 VRK1 SNORD116-1 AASS CREBBP COL6A1 SCNN1G SCN9A DCX TBX1 TBC1D24 SAMHD1 SPTBN4 MOGS CC2D2A KIF7 KRT14 EEF1A2 PIGU B9D1 RPL10 ACADS FLNA KIF1A H19 SIM1 TIMMDC1 ELN GRIN2B PLAA CPLANE1 PWRN1 RAPSN PEX2 AUTS2 CPT1A FKTN MYH3 SDHB PUF60 GFM2 GRIN1 MKRN3 GSX2 PWAR1 CPT2 SUFU CSPP1 FBN1 PMM2 TBC1D20 CLN8 PEX14 IGF2 TSEN15 ARVCF SDHA TRMU OPA1 B3GLCT ATP10A KIAA0753 TPO DALRD3 PRDX1 LAMB2 RREB1 EIF5A MECP2 REV3L RPS6KA3 WASHC5 EDEM3 PSAP CDK8 SLC5A7 GAA TSEN34 PDPN SUCLA2 CAMK2A SDHD NDUFS4 ZMIZ1 CNOT3 GAS1 RIT1 PIGL RAI1 ARMC9 PEX1 RAF1 CCDC32 FLII IFT80 BCOR SIGMAR1 LRP5 C2CD3 PEX26 GRM7 HYLS1 MTHFR CLTC PIGV PRKCSH KCNQ5 NBEA ALG14 TRIO AQP2 BMP4 TIMM22 MYL2 ARSA PTS SMC3 LHX4 TBCK NACC1 ATAD3A RAC1 UQCRC2 POLR3K HADHB TRIP4 MGAT2 PIGY CEP104 SCO1 CNOT2 PARS2 NIPBL SEMA3E ARID1B PIEZO2 MYT1L DLX4 ATP6V1B2 PDSS2 LIFR WDR26 IRF6 STAG2 PROP1 ACTA1 FARSA GALC UBE3B NLRC4 SON ACTL6B DUOX2 NFIX HESX1 PDE6D BIN1 EN1 NDUFAF3 LUZP1 COL6A3 SETD1B NONO YY1 KAT8 DYNC2I2 DPYD COL1A1 LONP1 ELP1 IL17RA PIGW NDUFAF8 FAM149B1 MOCS1 PIGQ IL17F MKS1 TET3 FLCN SCN3A TK2 ARX IFT140 SMARCD1 POGZ PGAP3 SLC5A6 PANK2 SCN1A LAMA2 GNPTAB BTD MMAA SMC1A PEX11B MMACHC RHBDF2 COQ2 AIFM1 EFTUD2 PCGF2 CLDN16 CHAMP1 COX10 SNAP25 PIGT KDM6A TSEN54 LMBRD1 KRT5 MSX1 COL6A2 KCNAB2 POLR1B CIC TTC21B TMEM216 AGRN MRAS HSPD1 TG CHRNE DEGS1 CACNG2 WNK1 SCO2 MLXIPL MTRFR ASXL3 WFS1 SLC25A22 POMT2 KATNIP HTRA2 CEP41 KLHL40 RNF6 FOXP1 IQSEC2 SKI UBA1 NECTIN1 ODC1 HSD17B4 CLTCL1 SUZ12 RNF2 ST3GAL5 UGP2 IFT172 PIGO DYNC2H1 OFD1 UFD1 LRPPRC PDE10A KDM3B CASZ1 VAMP1 PRDM16 UNC45B DUOXA2 NDUFS2 LZTR1 ALS2 POMT1 BCKDHA SELENON RALGAPA1 PEX13 PCCB SET FLI1 ASPA GP1BB ALG12 SLC1A4 TCF4 TSPYL1 ERCC5 ATRX CRLF1 NSD1 RETREG1 DOCK8 RASA2 NPAP1 COL7A1 BLM NDUFB8 DLG1 SURF1 SPATA5 PPP3CA MAP3K20 RAB3GAP1 EED WWOX MAP3K7 DYNC1H1 LARGE1 GABRD DDC FUS DBT SNORD115-1 TREX1 EPG5 MTR FAT4 HP_DISPROPORTIONATE_SHORT_LIMB_SHORT_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISPROPORTIONATE_SHORT_LIMB_SHORT_STATURE TENT5A KDELR2 SLC35D1 B3GAT3 AGPS FGFR3 FLNB NSMCE2 SLC26A2 TRIP11 SHOX COG1 INPPL1 DYNC2LI1 EVC FZD2 RMRP EBP KMT2A WDR35 COL2A1 DYM GPC6 COMP GSC GPX4 GLI1 GDF5 ACAN DHCR24 DYNC2I1 MBTPS2 MMP13 CHST3 IFT80 PRKAR1A COL1A1 IFT52 KIAA0753 PCYT1A IFT43 DYNC2I2 CANT1 GNPAT ASXL1 NXN MATN3 DYNC2H1 COL10A1 COL11A1 SLC39A8 CRTAP MYSM1 FGFR1 XYLT1 CREB3L1 MESD COL1A2 TBX15 IHH EVC2 ALG9 HSPG2 XRCC4 SIK3 PKDCC DVL1 WDR19 ARCN1 DDR2 ROR2 DHCR7 CEP120 SOX9 PEX7 CSPP1 MTOR LBR MIR140 TONSL BMPR1B HDAC6 P3H1 IFT122 KIAA0586 WNT5A B3GLCT MAB21L2 CFAP410 CEP57 ALG12 PPIB KYNU ALPL PTH1R HS2ST1 HP_ADIPOSE_TISSUE_LOSS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADIPOSE_TISSUE_LOSS PLIN1 ZMPSTE24 PPARG LMNB2 LMNA AGPAT2 FBN1 KCNJ6 POLR3A INSR BLM MPLKIP GTF2E2 ERCC2 FOS TARS1 MTX2 ERCC6 ERCC8 ERCC3 CIDEC RNF113A ERCC4 GTF2H5 LIPE CAV1 PSMB8 BSCL2 CAVIN1 HP_SEVERE_SHORT_LIMB_DWARFISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_SHORT_LIMB_DWARFISM XRCC4 NSMCE2 FLNB LBR GDF5 HP_POSTNATAL_GROWTH_RETARDATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTNATAL_GROWTH_RETARDATION ATR RNU4ATAC DMXL2 PSPH RTL1 HDAC8 B3GALT6 BUB1B KIF7 KMT2D ESCO2 ANKRD55 KMT2A RNPC3 PTPN2 RERE MCTP2 NSD2 TRMT10A IL2RA ERCC8 ARSL SMOC1 DHODH NAA10 RAB18 ATP6V0A2 MAP2K1 DLK1 KANSL1 PRKAR1A INSR ARG1 PTPN11 NEXMIF CDKN1C FAM111A MGAT2 COG4 MBD5 NIN MASP1 DPF2 PLAGL1 FLNC NIPBL TUBB3 SEMA3E ARID1B MCM4 BLM XYLT1 EP300 RPL13 BRAF CKAP2L NALCN CHD7 DCX SMARCB1 IL2RB LARP7 FIG4 RYR1 GUSB COG1 SATB2 ACTB PLAG1 CYP27B1 DYM TMCO1 COLEC11 IGF2 PNPLA8 EMG1 SALL4 PCNT COLEC10 PPP1R15B VAC14 MEG3 PYGL PAPPA2 ADAMTS3 TFAP2A FGFRL1 CDC42 TNNT2 TGDS BRIP1 CPLX1 HYMAI ATRX SMARCC2 KIF15 TAF1 TSHB B3GLCT EBP STAT4 SPTB GINS1 PTPN22 SMARCD1 ATP6V1A FOXG1 LMNA DNAJC19 SMARCA2 FLNA WFS1 CD247 ARID1A RAD21 PALB2 PHKG2 CDAN1 CYP2R1 SLC2A1 SOX4 KIF20A ARID2 HLA-DQB1 GATA3 CTBP1 GNPTAB GYPC EPB41 PDE4D FAT4 SCUBE3 CDK10 SLC4A1 MYH3 KDM6A LETM1 TBCE SMARCE1 IARS1 CUL7 ALDH18A1 CCBE1 HMGA2 MYPN CTNNB1 NSUN2 STAT5B SHPK SNRPB PCYT1A H19 SIN3A SMARCA4 BRD4 MTX2 CCDC22 SETBP1 ANKRD17 BNC2 RTEL1 ERCC6 PIEZO2 NBAS CREBBP SIX6 COQ7 MTRR TCF4 TNNI3 LHX4 LIG4 MAF POU1F1 SMC1A SMC3 PTRH2 IGF1 CASK RAB3GAP2 KCNJ6 ATP6V1E1 RPL10 GNA11 GHSR TBC1D20 VPS35L POU3F4 HLA-DQA1 SEC24D SOX2 SPTA1 NDE1 PLOD3 WASHC5 ERCC4 GM2A SLC5A2 IGFALS CTC1 CHD1 SOX11 HP_RHIZOMELIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RHIZOMELIA TENT5A FGFR1 KDELR2 MYSM1 CREB3L1 GPX4 B3GAT3 COL11A1 COG1 AGPS TBX15 FLNB SLC26A2 DYM ALG9 FZD2 RMRP EBP SIK3 KMT2A PKDCC GPC6 DVL1 WDR19 ARCN1 IFT80 WDR35 GSC DHCR7 CEP120 PEX7 CSPP1 MTOR LBR PCYT1A TONSL FGFR3 SHOX ACAN DHCR24 HDAC6 MBTPS2 IFT122 MMP13 GDF5 KIAA0586 WNT5A CHST3 IFT52 B3GLCT MAB21L2 IFT43 CFAP410 GNPAT CEP57 ALG12 ASXL1 INPPL1 KYNU PTH1R CRTAP HP_CHILDHOOD_ONSET_TRUNCAL_OBESITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHILDHOOD_ONSET_TRUNCAL_OBESITY POMC VPS13B MC4R PCSK1 INPP5E HP_NEONATAL_SHORT_LIMB_SHORT_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_SHORT_LIMB_SHORT_STATURE COL2A1 RMRP SLC26A2 EVC SOX9 COL1A1 COL1A2 EVC2 PTH1R GLI1 DYNC2LI1 FGFR3 HP_GENERALIZED_NEONATAL_HYPOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_NEONATAL_HYPOTONIA SUCLG1 ATP2B3 PEX12 COG4 FIG4 MT-TT PEX26 TBC1D24 PEX3 VAC14 PEX10 PSMD12 ADNP MTHFR PEX16 PEX6 MED12 PEX2 BPTF HP_MUSCULAR_HYPOTONIA_OF_THE_TRUNK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCULAR_HYPOTONIA_OF_THE_TRUNK GAD1 SEPSECS DLL1 LMNB1 WDR73 SATB1 PIGA FAR1 PTPN23 PDE10A TBC1D2B ERCC8 PTCH1 EIF2S3 NDUFB11 ZIC2 GALC PCDH12 SLC18A2 RARS1 GRM7 TDGF1 OCLN FGF8 PNPO TRMT10A PAX7 EMC1 VPS11 RTTN SLC39A14 ABCC8 IER3IP1 PTS GLYCTK EXTL3 MFF MAN2B1 RAB18 ERCC6 DISP1 DARS1 SIX3 INSR TRNT1 NEXMIF FGF12 ADARB1 IFIH1 TSEN2 SAMHD1 FGFR1 GDI1 ATAD3A MECP2 WARS2 GAS1 GM2A FOXH1 SCO1 SLC6A3 PARS2 PRPS1 TUBB3 TRAPPC12 NEDD4L NALCN SLC6A9 KCNJ11 DCX GLI2 NODAL FARSB NHLRC2 PDHX CACNA1E STAG2 CHMP1A GRIA3 SOX10 SLC35A2 KCNMA1 UBE3B ACTL6B NDUFA1 PIGP MRPS22 VAMP2 WWOX WDR45B ALG6 SHH STXBP1 VPS41 PCLO RNASEH2B SPATA5 PPP1R15B NDUFC2 UNC80 DNAJC12 FARS2 HK1 CACNA1G UFC1 ADCY5 COG4 SLC25A19 CERT1 KCNQ2 ASXL1 PCCA GRIN2D TGIF1 SLC19A3 CDH2 UGDH KCNQ3 NRROS CDON PNPT1 ADAR DDX6 CLCN6 FAM126A NEUROD2 SLC13A5 SCN1A NDUFS2 AMPD2 GNPTAB PLP1 VPS13D RNASEH2C DHDDS YIF1B SMC1A PAFAH1B1 PSAT1 GPHN LRRC32 AP3D1 ERCC1 PDE2A PGAP1 TMTC3 PCGF2 GJC2 SPR RNASEH2A DHPS CHP1 TREX1 DENND5A ASNS LIPT1 LMX1B SUCLG1 ALG3 KIDINS220 NONO DPAGT1 TUBGCP2 GRIN2A RYR1 RUSC2 TARS2 HTT GLS CTNNB1 OSTM1 ATG7 ALG11 NECAP1 PLA2G6 NSUN2 PMM2 PIGY PCBD1 CLDN11 MDH1 FDXR CACNA2D2 MICOS13 UGP2 SLC16A2 TUBB4A SLC30A9 EXOSC3 EBF3 SMG9 AIMP1 RNU12 GFM2 GRIN1 CASK SOD1 HACE1 RAB3GAP2 PCCB KIF1A BRAT1 ARX TSEN15 PYCR2 PAM16 GRM1 OPA1 MRPL12 ELP2 PDP1 AP3B2 ACSF3 NSMCE3 GFM1 TSEN54 MBOAT7 TH PSAP AP4S1 PLCB1 TSEN34 DDC PIK3R2 GFER NMNAT1 HP_GENERALIZED_LYMPHADENOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_LYMPHADENOPATHY PRKCD RAC2 LRBA RNF168 HLA-DRB1 IFNGR1 HP_ACUTE_RHABDOMYOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_RHABDOMYOLYSIS CACNA1S LPIN1 TANGO2 CTDP1 RYR1 HP_DISTAL_LOWER_LIMB_AMYOTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_LOWER_LIMB_AMYOTROPHY KLC2 GJB1 YY1 ATL1 NEFL KRT14 HSPB1 MORC2 RYR1 FLRT1 KIF5A PDK3 LMNA BSCL2 ATXN3 BICD2 MFN2 ADSS1 HINT1 MT-TE INF2 FGD4 PMP22 MAG GIPC1 KDM5C CPT1C FLNC TFG DYSF KRT5 TCAP CUL4B TPM3 SH3TC2 HP_INFANTILE_MUSCULAR_HYPOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFANTILE_MUSCULAR_HYPOTONIA SARDH SEPSECS SIM1 DLL1 RPL10 TRPS1 BMP2 PIGL PTCH1 NAGS DPM1 ADAR ZIC2 PEX13 RARS1 TDGF1 FGF8 PIGQ PIGV PAX7 RTTN GLB1 FGFR3 SNRPN EFL1 MT-ND3 MFF MAN2B1 TELO2 STXBP1 ATP6V0A2 DISP1 SCN1B DLK1 SIX3 NACC1 ZEB2 MT-ND1 MECP2 RAC1 FGFR1 COG8 MT-ND4 MED12 WARS2 PIGY GAS1 DPF2 FOXH1 GATAD2B KCNA1 PIGP TUBB3 ATP6V1B2 SYT1 PDSS2 SMARCB1 NKX2-1 MT-ND2 GLI2 NODAL GNAO1 STAG2 ACADS CDKL5 GALC SLC35A2 TRAPPC11 SLC19A3 SMS CASK SON MAN1B1 SUCLG1 IGF2 SHH MAGEL2 NEK1 MT-TW UNC80 ADNP AHCY SRD5A3 CDC42 NDUFAF3 SIK1 FKRP DPYD GABRA1 ATRX PIGW TGIF1 SMARCC2 KIF15 SLC7A7 UBTF TSEN2 MT-ATP6 SMARCD1 ATP6V1A GLYCTK COG5 PRMT7 CDON ITGA7 UBE3A POGZ SLC25A22 PGAP3 ARID1A GABRG2 DMXL2 SOX4 ARID2 RAI1 NTNG2 POMT2 CWF19L1 TUBB2B SCN2A TRIM8 MT-ND5 SMC1A COL5A1 PSAT1 DCHS1 SUOX COQ2 PGAP2 DAG1 ACADVL GNB1 ARID1B SCN1A NEUROD2 SMARCE1 ADGRG1 OCA2 PNKP ITCH SRPX2 SLC39A14 NEU1 NUP62 UGT1A1 DPAGT1 MT-TK SCO2 GMPPB H19 DNMT3A DEAF1 SMARCA4 GRIN2A MTRFR RYR1 GTPBP3 ASXL3 LRP5 RTL1 ALG11 CPE GAMT AASS UBA1 TBC1D24 CLTCL1 CLCN4 MT-TL1 PACS1 PIGO TBCD LARGE1 NALCN ARX EBF3 PI4KA MAF NDUFS2 SIAH1 RNU12 GFM2 ERMARD USP9X SATB2 MT-ND6 KCNN3 MOGS PCDH19 EXTL3 ADAT3 ATP6V1E1 POMT1 TSEN15 KCNH1 ATP10A SCN9A NDUFB8 MEG3 SURF1 SPATA5 MT-TV TSEN54 ASAH1 GM2A PSAP GAA TSEN34 GFER SOX11 FAT4 HP_PROXIMAL_UPPER_LIMB_AMYOTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_UPPER_LIMB_AMYOTROPHY SYNE1 LMNA HNRNPDL SYNE2 SGCD EMD FHL1 TMEM43 MORC2 TCAP HP_INTRINSIC_HAND_MUSCLE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRINSIC_HAND_MUSCLE_ATROPHY FLNC HINT1 DYSF LDB3 TIA1 RYR1 HARS1 NGLY1 PMP22 SVBP CHCHD10 VCP KLHL9 MPZ CAV3 SQSTM1 HP_DISTAL_UPPER_LIMB_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_UPPER_LIMB_MUSCLE_WEAKNESS FLNC ADSS1 HK1 VCP CACNA1A SCN1A TIA1 TTN GMPPB SORD RYR1 MORC2 HARS1 GIPC1 MME ATP1A2 VWA1 NDRG1 PRRT2 HSPB3 DYSF SQSTM1 HP_TIBIALIS_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TIBIALIS_MUSCLE_WEAKNESS DYSF TTN GNE MYH7 GIPC1 MTRFR HP_EXERCISE_INDUCED_MUSCLE_STIFFNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXERCISE_INDUCED_MUSCLE_STIFFNESS PYGM ATP2A1 PHKA1 SCN4A CAV3 SLC16A1 HP_MUSCLE_HYPERTROPHY_OF_THE_LOWER_EXTREMITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_HYPERTROPHY_OF_THE_LOWER_EXTREMITIES PLIN1 POMT2 MAP3K20 FRG1 SGCD RYR1 CAPN3 SLC25A1 LMNA LARGE1 DNM2 POMGNT2 BIN1 SGCB DPM3 ANO5 UNC45B FKRP TTN POMT1 PLEC DMD POPDC3 CHCHD10 CLCN1 LTBP4 AR SRY GMPPB PMP22 SGCA CAV3 LIMS2 FKTN RASA1 CIDEC SGCG DAG1 CRPPA MYF6 DHX16 LAMA2 MTMR14 KCNA1 DYSF TCAP HP_LEG_MUSCLE_STIFFNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEG_MUSCLE_STIFFNESS ABCD1 LDB3 DNAJC6 VAMP1 ZFYVE26 ATP13A2 DARS2 KIF1A KIF5A SPAST PODXL MT-ATP6 SYNJ1 ANO10 HP_PROXIMAL_MUSCLE_WEAKNESS_IN_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_MUSCLE_WEAKNESS_IN_LOWER_LIMBS FLNC DMXL2 TTN MORC2 RYR1 CHCHD10 DNM2 POLG BIN1 MFN2 CPOX FHL1 PIGN SYNE1 VWA1 LMNA MYH7 LIPE ANO5 COL6A3 HMBS POGLUT1 DYNC1H1 ATP7B VCP SYNE2 TWNK NEFL SMN1 COL12A1 POPDC3 VMA21 TRIM32 TMEM43 ADSS1 POLG2 RRM2B CRPPA SORD SLC25A4 MYF6 COL6A2 LAMA2 MTMR14 REEP1 DYSF EMD TCAP COL6A1 HP_PROXIMAL_MUSCLE_WEAKNESS_IN_UPPER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_MUSCLE_WEAKNESS_IN_UPPER_LIMBS AK9 MORC2 RYR1 CHRNE CHCHD10 DNM2 BIN1 MFN2 LDB3 CPOX FHL1 CHRND SYNE1 VWA1 LMNA LIPE POMT1 COL13A1 ANO5 MYH7 HMBS MUSK VCP FBXO38 SYNE2 NEFL CHRNB1 KY LRP4 SCN4A PPOX CHRNA1 TMEM43 ADSS1 RAPSN CRPPA GMPPB GIPC1 MYF6 AGRN LAMA2 MTMR14 DOK7 DYSF EMD TCAP HP_HYPOPLASIA_OF_THE_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_MUSCULATURE FLNA MAP3K20 TPM2 FBN2 HACD1 PMP22 SALL4 HBB ACTA1 MAP3K7 RBM8A GLE1 SELENON TPM3 COLEC11 ATP6V0A2 ALG9 MYMK CAV3 MYL2 ITGA7 HP_WEAKNESS_OF_THE_INTRINSIC_HAND_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEAKNESS_OF_THE_INTRINSIC_HAND_MUSCLES DYSF FBXO38 CHRNB1 AK9 LRP4 NEB CHRNE SCN4A CHRNA1 KLHL9 HINT1 RAPSN LDB3 CHRND AGRN STIM1 COL13A1 VCP DOK7 MUSK CAV3 HP_EXERCISE_INDUCED_MUSCLE_FATIGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXERCISE_INDUCED_MUSCLE_FATIGUE CRELD1 NR2F2 AMPD3 GABRA3 DBH GATA6 SCN4A CACNA1S PGK1 AMPD1 SLC16A1 GATA4 KCNE3 TRAPPC11 KCNJ18 HP_ABDOMINAL_WALL_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABDOMINAL_WALL_MUSCLE_WEAKNESS SKI VDR NF1 CAPN3 GYG1 SMCHD1 FRG1 PIGQ MAP2K2 MYH7 PTEN CYP27B1 HP_INCREASED_CONNECTIVE_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CONNECTIVE_TISSUE NEB AIFM1 INPP5K RYR1 UROS MAP3K20 POLR3A PLEC MT-TK POMC ACTA1 LMNA AKT2 COL6A2 MC4R KLHL40 LAMA2 LMOD3 LIMS2 ANO5 NEFL GATA1 MTX2 DYSF LIPE CHCHD10 TNXB TNPO3 PCSK1 TCAP KLHL41 HP_FOOT_DORSIFLEXOR_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOOT_DORSIFLEXOR_WEAKNESS RRM2B MARS1 MPV17 RAI1 TTN MORC2 CFL2 TRPV4 TPM3 PNPLA2 GNE MFN2 COX20 DMPK LDB3 NF2 MYOT AARS1 MME ATP1A1 TIA1 ORAI1 MPZ POLG KLHL41 MYH7 MYL2 TBCE VCP HSPB1 COX6A1 SACS RAB7A NEFL HINT1 KY ACTA1 LYST SPTLC2 TPM2 ADSS1 INF2 IGHMBP2 LBR DES GIPC1 GDAP1 BSCL2 SMCHD1 NEB MCM3AP SPG11 LMOD3 EGR2 PRX TCAP SH3TC2 FLNC ALDH18A1 GJB1 DNAJB2 HACD1 COA7 KIF1B SLC25A21 SCO2 CRYAB ATL1 PMP22 MTRFR FA2H SBF2 KARS1 VWA1 LMNA SELENON ATL3 COL6A3 SQSTM1 GYG1 COL12A1 ACTN2 MAP3K20 TYMP FHL1 SPTLC1 COL6A2 SIGMAR1 DYSF COL6A1 LRP12 ITGA7 LRSAM1 HP_EXERCISE_INDUCED_RHABDOMYOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXERCISE_INDUCED_RHABDOMYOLYSIS CACNA1S ACADVL RYR1 ALDOA PYGM LDHA HP_DIFFICULTY_RUNNING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFICULTY_RUNNING FLNC SPEG TPM2 DPAGT1 MICU1 ALG14 MORC2 RYR1 COL12A1 PNPLA2 PYROXD1 MYPN NEFL GMPPB MFN2 MT-TE BIN1 KCNC3 ANO5 PEX2 DYNC1H1 VCP KBTBD13 FBXO38 GFPT1 KY TTN POPDC3 BICD2 VMA21 FKRP ADSS1 SGCG TPM3 STIM1 DYSF MEGF10 LAMA2 REEP1 ALG2 TNPO3 TCAP HP_PERONEAL_MUSCLE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERONEAL_MUSCLE_ATROPHY SACS HINT1 WASHC5 VPS13A TRPV4 TTN LMNA PMP22 DES HP_INCREASED_MUSCLE_GLYCOGEN_CONTENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_MUSCLE_GLYCOGEN_CONTENT PHKB PYGM PFKM ENO3 TRMU PHKA2 PHKG2 MSTO1 MT-TE HP_DISTAL_LOWER_LIMB_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_LOWER_LIMB_MUSCLE_WEAKNESS FLNC SARDH MAPT MORC2 PNKP GNE SLC18A3 GJB1 CHCHD10 MT-ATP6 SCYL1 PNPLA6 MTRFR MFN2 ABCD1 GARS1 HSPB1 VAMP1 FGD4 SNAP25 HARS1 CHAT MME VWA1 COL13A1 TTN ANO5 PLEC HSPB3 MYH7 EXTL3 HK1 VCP DYSF ATL1 IBA57 NEFL AGRN MTTP REEP1 BSCL2 HSPB8 DES LMNA PMP22 SYT2 MYO9A ADSS1 HINT1 GMPPB SORD SLC25A1 GIPC1 NDRG1 SLC5A7 CPT1C VHL TRPV4 TDP1 TCAP TPM3 HP_GENERALIZED_LIMB_MUSCLE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_LIMB_MUSCLE_ATROPHY TPM2 KBTBD13 NEB LEMD3 PNPLA6 GMPPB SGCD SPG11 MYH7 DARS2 CARS1 SCO2 KLHL41 PNPLA2 ACTA1 TPM3 YARS2 MYPN PUS1 SCYL1 HP_INCREASED_MUSCLE_LIPID_CONTENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_MUSCLE_LIPID_CONTENT TPM2 NDUFS4 MT-TN GABRA3 CPT2 CACNA1S TTN NEB MYH7 MT-TS1 MSTO1 COL12A1 PNPLA2 KCNE3 ACTA1 TRMU CHCHD10 MYPN SUCLG1 COX6A2 KCNJ18 COQ8A KBTBD13 SCN4A ABHD5 AFG3L2 MT-TE NDUFA4 SDHA COL6A2 ISCU KLHL41 SELENON TPM3 COL6A3 SURF1 COL6A1 HP_INFANTILE_AXIAL_HYPOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFANTILE_AXIAL_HYPOTONIA DLL1 SEPSECS GLI2 NODAL FOXH1 STAG2 SHH TDGF1 CDON SMC1A PTCH1 GALC ZIC2 PSAT1 GAS1 FGF8 SIX3 RARS1 RNU12 GFM2 PAX7 RTTN EXTL3 TGIF1 MFF SLC39A14 MAN2B1 TSEN15 DISP1 DPAGT1 TSEN2 FGFR1 GRIN2A RYR1 WARS2 TSEN54 GM2A PSAP TUBB3 TSEN34 GFER HP_PROGRESSIVE_DISTAL_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_DISTAL_MUSCLE_WEAKNESS HADHB MYOT NEB GIPC1 PNPLA2 MYH14 TRPV4 HADHA LDB3 CRYAB KLHL9 CAV3 HP_GENERALIZED_LIPODYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_LIPODYSTROPHY ZMPSTE24 BSCL2 CAV1 LMNA FBN1 KCNJ6 PSMG2 MTX2 HP_DECREASED_ACHILLES_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ACHILLES_REFLEX ADSS1 CRYAB FBXO38 DYSF LDB3 IBA57 MYH7 HP_PROGRESSIVE_PROXIMAL_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROGRESSIVE_PROXIMAL_MUSCLE_WEAKNESS MT-TE PYGM DYSF LDB3 ABHD5 MYOT MT-TN NEB GIPC1 COL12A1 TK2 COL6A2 MT-TS1 MT-TL1 PNPLA2 TRAPPC11 PLEC ANO5 COL6A3 MT-TL2 CRYAB COL6A1 HP_WEAKNESS_OF_LONG_FINGER_EXTENSOR_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEAKNESS_OF_LONG_FINGER_EXTENSOR_MUSCLES HINT1 RAPSN LDB3 TIA1 CHRNB1 AK9 LRP4 MYH7 NEB CHRND AGRN CHRNE SCN4A GNE COL13A1 DOK7 CHRNA1 MUSK SQSTM1 HP_ALVEOLAR_RIDGE_OVERGROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALVEOLAR_RIDGE_OVERGROWTH RBM10 SNRPN OFD1 SH3BP2 BRF1 CD96 NTRK1 DHCR24 TBX15 HP_SPEECH_ARTICULATION_DIFFICULTIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPEECH_ARTICULATION_DIFFICULTIES NECTIN1 PLCB4 CDH1 MSX1 TP63 NF1 OCA2 IRF6 STAG2 MAGEL2 GRIN2A SNRPN SRPX2 HTT MAPT GABRG2 DLG1 GALT FOXP1 GRHL3 NDN UBB FRRS1L ARHGAP29 SLC2A3 GNAI3 ALDH4A1 SH2B1 DLX4 BMP4 SH3TC2 HP_CHRONIC_ORAL_CANDIDIASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_ORAL_CANDIDIASIS CD3E DCLRE1C CD3D TFRC AP3B1 CARD9 ZAP70 AIRE IL17RA KNSTRN PIK3CD WDR1 IL2RG JAK3 IL2RA MVK CD247 HP_MEDIAN_CLEFT_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEDIAN_CLEFT_PALATE LHX4 SHH ZIC2 PROP1 TGIF1 SIX3 FOXA2 ALX3 HESX1 DVL1 WNT5A PITX1 GLI2 FGFR1 DVL3 DISP1 OTX2 PTCH1 STIL FZD2 LBR FGF8 ZSWIM6 POU1F1 SLC2A10 STAG2 FAM20C NUAK2 HP_ANTERIOR_OPEN_BITE_MALOCCLUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTERIOR_OPEN_BITE_MALOCCLUSION ENAM AMELX KLK4 GPR68 RELT ATP6V1B2 BMP2 ITGB6 MMP20 GNAI3 KCNH1 KCNN3 DSPP FAM83H HP_APLASIA_HYPOPLASIA_INVOLVING_THE_PELVIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_PELVIS NSD2 RSPO2 CANT1 TRPV4 CTBP1 TBX15 TRAPPC2 IFNGR1 SLC26A2 IHH SHOX CCN6 RTL1 PORCN KAT6B SLC10A7 COL2A1 RSPRY1 CPLX1 COMP NANS INPPL1 MEG3 OBSL1 CEP120 WNT7A TRAF3IP1 WNT3 EXOC6B CUL7 TONSL FGFR3 NSDHL INTU FN1 HSPG2 BMPR1B MATN3 XYLT1 MMP9 POP1 PEX5 NELFA LETM1 ABCC9 CCDC8 CHD4 IDUA CHST3 B3GALT6 SMARCAL1 COL11A2 PIK3C2A SETBP1 IFT140 SLC39A13 ERCC6 CFAP410 AIFM1 ERCC8 RUNX2 TMEM67 CTC1 DLK1 PIGG POC1A DDRGK1 MTX2 HP_APLASIA_HYPOPLASIA_OF_THE_PUBIC_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_PUBIC_BONE NSD2 SETBP1 CUL7 COL2A1 CPLX1 CTBP1 NELFA LETM1 ABCC9 INPPL1 CCDC8 TBX15 OBSL1 MATN3 PIGG COL11A2 WNT7A INTU HSPG2 KAT6B HP_ABNORMAL_OSSIFICATION_OF_THE_PUBIC_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_OSSIFICATION_OF_THE_PUBIC_BONE COL2A1 NKX3-2 FGFR2 RUNX2 GSC HP_ABNORMAL_PELVIS_BONE_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PELVIS_BONE_OSSIFICATION DYNC2I1 DYNC2I2 LBR WDR35 COL2A1 NKX3-2 CTSK FGFR2 RUNX2 GSC IFT80 DYNC2H1 HP_ABNORMAL_OSSIFICATION_INVOLVING_THE_FEMORAL_HEAD_AND_NECK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_OSSIFICATION_INVOLVING_THE_FEMORAL_HEAD_AND_NECK DYM RNU4ATAC LBR MATN3 FLNB COMP IYD KIAA0586 PROP1 LHX4 TG SLC5A5 SLC26A2 B3GALT6 UFSP2 COL2A1 TSHB TPO TSHR POU1F1 LHX3 DUOX2 DUOXA2 HESX1 CSPP1 ARSL HP_APLASIA_HYPOPLASIA_INVOLVING_THE_FEMORAL_HEAD_AND_NECK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_FEMORAL_HEAD_AND_NECK CANT1 TRPV4 TRAPPC2 IFNGR1 SLC26A2 IHH SHOX CCN6 RTL1 SLC10A7 RSPRY1 COL2A1 COMP NANS MEG3 TRAF3IP1 EXOC6B TONSL FGFR3 FN1 BMPR1B MATN3 XYLT1 MMP9 POP1 PEX5 CHD4 IDUA CHST3 B3GALT6 PIK3C2A IFT140 SLC39A13 CFAP410 AIFM1 RUNX2 TMEM67 CTC1 DLK1 POC1A DDRGK1 MTX2 HP_DIAPHRAGMATIC_EVENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIAPHRAGMATIC_EVENTRATION IGHMBP2 PLOD3 STRA6 LRP2 CHRNG MTM1 ZNF699 WT1 ARID2 TRIP4 ASNS DNAJC19 MYOD1 HP_DIAPHRAGMATIC_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIAPHRAGMATIC_WEAKNESS IGHMBP2 DMPK SLC52A3 MORC2 BAG3 COL6A3 COL12A1 TRPV4 GAA TPI1 MEGF10 COL6A2 COL6A1 PMP22 TTN HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETON RNU4ATAC TRPS1 CCDC32 KIAA0586 SATB1 PIGA MGP BUB1B TENT5A ALX3 CCDC47 LMBR1 NUP107 TPM3 KMT2D DPM1 FANCB STX16 MIR17HG TBXT TCTN3 RERE WDFY3 SMAD4 MRPS28 ARSL SMOC1 ANKRD11 CBL SPEN MAP2K1 B9D1 FLNB ACVR1 CTSK SIN3A PEX12 SOS2 NOG COG4 NIN POU1F1 BMPR1B KCNA1 CSGALNACT1 NXN ADAMTS10 LMNA KCNMA1 SOS1 CHST14 BHLHA9 MIR140 TMEM70 RAC3 NGLY1 HACD1 CANT1 HUWE1 PIGN FIG4 COL11A1 NRAS KCNJ2 DIS3L2 HOXD13 USP7 PRKCZ C1R PLAG1 SYP MATN3 SUCLG1 PEX5 SALL4 KBTBD13 DLG3 ARCN1 RSPRY1 GHR RMRP BTRC VAC14 HNRNPU RFWD3 ZSWIM6 EFTUD2 MEG3 CDT1 MED12 ARSB PEX7 MAPK8IP3 ERCC2 PQBP1 DYNC2I1 EXT1 RPS29 RPS10 NCF1 ATP7A CREBBP CERT1 HYMAI ATRX PUM1 ATP6V1B2 DPH1 RFT1 SETBP1 AEBP1 CFAP410 FGF9 RPS24 PTCH1 CHN1 NAA10 CHUK CNKSR2 JARID2 TBL1XR1 DMXL2 BICRA ARID2 SLC35C1 DONSON PDE4D MAPRE2 ZMIZ1 PLA2G6 SLC2A10 DCHS1 C12orf57 YY1AP1 CEP152 COG1 GDF5 FBXL4 KDM5C WDR35 PGAP2 FUCA1 GDF11 GSC ELN ARID1B RPS6KA3 SIX1 GLI1 EIF4H MAGEL2 MMP13 NKX3-2 SRPX2 B9D2 SMARCA2 TOR1A FGFR3 MED27 TBX5 ECEL1 COL10A1 FGFR2 BRD4 EDN1 MTX2 HOXA13 PI4KA RAI1 MKS1 FBN1 MSX2 HIRA DACT1 CLDN3 HNRNPH2 DDRGK1 TBX1 PTDSS1 SETD5 TMEM216 MYH7 RBPJ TBX4 HSPG2 DLL4 TBCD SLC26A2 MYPN DZIP1L KAT6B FERMT1 CC2D2A ZMPSTE24 NUP133 FKTN CASK SNRPN SATB2 KCNN3 USP9X STAG1 FKBP10 D2HGDH NDN PWAR1 RPL26 ADAT3 RAPSN NOTCH1 POLR1C FGF10 SEC24D TOE1 COL2A1 VPS13B NEK9 RTL1 EIF5A CEP57 TMEM270 SLC29A3 GLE1 CEP290 RAD51C RPS28 BUB3 RIT1 RPL18 DNMT3B SLC25A24 ABCC9 DOK7 ATRIP RAB3GAP2 IFT80 BCOR GNAI3 TCIRG1 NFIX FANCA MYL2 ZNF81 GLI3 NSDHL TCOF1 FGD1 TNNT3 SLX4 LHX4 TBCE ALX1 BMP4 TP63 PRKAR1A RRAS2 IFT43 PAK3 MBD5 MASP1 COL1A1 PTH1R TMEM67 RNF113A METTL27 PIGL LMOD3 NALCN RELN KIF7 TSEN54 PSMD12 CUL4B TRPV4 MUSK TSR2 PPP1R12A HS2ST1 PPP1R15B ZC4H2 MAP3K7 CWC27 UBE3B PUS7 LTBP2 SLC10A7 PIGS PDE6D SPECC1L PPP3CA PRRX1 TFAP2A EN1 WDR19 GJA1 RLIM KDM4B IKBKG SLC25A19 COMP RFC2 ALG1 TRIM37 PIGW LAGE3 UBE2T B3GLCT IGF2 OCA2 DLX5 CRKL FMR1 IFT122 FN1 PEX3 CPLANE1 SNRPB ORC6 RBM8A VANGL1 INPPL1 IFT140 PIGG COG7 NODAL SLC18A3 ZNF341 ARHGEF6 CLIP2 EVC GGCX EBP SCUBE3 SNAP25 PIGT LETM1 SMARCE1 BDNF COL3A1 ADGRG1 PAX6 MITF TTC21B TRIP12 EP300 RPS19 DNMT3A SMARCA4 FANCL LAS1L SMC1A BGN BPNT2 MAPK1 KAT6A RBBP8 OFD1 FAM20C ALG6 SIX6 PIGY RPL11 XYLT1 TCF4 CLTCL1 DPYSL5 SUZ12 OTX2 ATAD3A ACAN CLCF1 DDX6 DYNC2H1 ALG9 IL1RAPL1 WIPI2 FBN2 SMC3 LZTR1 GALNT2 ACTA1 SP7 TAPT1 TGFBR2 TBX6 GP1BB ESCO2 STAC3 IHH SKI LZTFL1 POR HDAC6 BLM CTDP1 MAP3K20 PCNT GPC6 PPP2R3C FANCD2 TRIP4 LARGE1 FAT4 KMT2E NF1 HMGA2 GTF2I SLC35D1 CFL2 KCNJ8 KCNH1 INTS1 ARL6 MYCN AMMECR1 TRPV6 DNAJC21 BPTF MCTP2 MET C2CD3 DCLRE1C RAB33B TXNL4A BANF1 PTHLH RAB18 FZD2 FRMPD4 DLK1 PTCHD1 WASF1 HES7 PPM1D PLAGL1 GNPAT SFRP4 GPC4 KRAS LRP4 COL9A1 GNAS FBXO11 IL7R TUBB MIA3 GUSB PEX16 BMP2 PYROXD1 PTPN23 PTEN RPS20 MAFB ERGIC1 LHX3 RINT1 UNC80 DVL3 MYH3 RPGRIP1L PEPD SOX6 LBR MNX1 HPDL SMARCC2 COL11A2 ZBTB18 DNAJC30 DYRK1A GMNN MAB21L2 SALL1 SYT2 BCORL1 CEP55 HDAC4 TP53RK ANTXR1 DMD MCM5 AGO2 PTPN11 TXNDC15 POC1A RECQL4 DYM SEC24C SOX2 RPL27 POLR1D CAMK2G INTU NSMCE2 PSAT1 SOX11 SHOX ORC1 ACTL6B EVC2 RAB39B ASNS RUNX2 ALG13 FLNA STAG2 PNKP MECP2 MMP9 DHCR7 UBE4B FUZ PLK4 SCARF2 PIEZO2 TCF20 PUS1 LGI4 ARL6IP6 IQSEC2 SOX9 NPR2 MYSM1 KAT8 ALDH18A1 PLAA GTF2E2 GPKOW ORC4 PEX2 CEP120 WNT3 SEM1 FANCF ERCC1 CHRNA1 HPGD TBC1D24 ZNF292 XRCC4 ARVCF KCNK9 NFASC KNSTRN KIAA0753 LIG4 COX7B TTN P4HB TRAPPC4 SLC5A7 CTC1 STXBP1 MADD EXT2 PSPH LONP1 CNOT3 FLVCR2 GTF2IRD1 ERCC5 MYBPC1 NTNG1 TRIO FLII GATA4 TBX3 COL9A2 NUP88 RSPO2 RPL35 TRMT10A ACTB RPL35A LMX1B RAB3GAP1 TRAPPC2 GLB1 SLC12A2 NDUFB11 WNT5A CCDC28B ACTG1 RAC1 ADAMTSL2 DYNC2I2 SPART TPRKB IRF6 FGFR1 XRCC2 COL9A3 PROP1 MYMK TMCO1 GABBR2 AMER1 ATR CTNND2 CHRND DSE TGDS COL5A1 YY1 HDAC8 FANCC MSL3 APC PAH SMARCD1 FLCN MAD2L2 RB1 SOX4 LIFR TWIST2 SEMA3E WRN RDH11 SNIP1 PIK3CD EOGT DLX6 DPM2 FAM50A DYNC2LI1 TMEM231 TBX22 CRLF1 LAT2 PHYH POLR1B MINPP1 IFT172 GNPTAB ROR2 MSTO1 B3GALT6 TNNI2 RPS7 POMT2 TSPAN7 DPYD IL2RG LIMK1 UBA1 ARHGAP31 TAB2 RNF2 ADAMTS2 COL1A2 GATA1 PUF60 ARX TRIP11 CENPE VAMP1 LTBP4 WNT7A EXOC6B FLI1 ALG12 ATP6AP2 VPS35L PDE3A NSD1 RASA2 NPAP1 FANCG SLC6A17 HCFC1 CTU2 KIF22 BRIP1 GABRD SNORD115-1 FANCM PALB2 GBA TONSL A2ML1 SUFU HERC2 IFNGR1 BMPER RAB23 TPM2 TNRC6B OBSL1 PAX7 DHCR24 RHOBTB2 BRAF CENPF AGA MYO9A COG8 SC5D EZH2 PLXND1 TUBB3 RPS27 ERCC4 CRTAP EYA1 CREB3L1 CTBP1 NOTCH3 CDKL5 DOLK LOXL3 EMG1 SIK3 NANS ZNF699 GPC3 PHIP MTOR FKRP YARS2 SIK1 WNT10B ZDHHC9 OSGEP POP1 FDFT1 POLE KIF15 PITX1 MYOD1 PIK3C2A PEX19 DSTYK DHODH SLC25A1 PPIB CD96 UBE2A COL6A3 BCL7B FTSJ1 ACSL4 ZNF711 ADNP COL13A1 MID2 NEB B3GAT3 SCYL2 BUB1 COMT PIGB DVL1 COASY BRCA2 MPLKIP CDC45 CHSY1 CDK10 SIL1 WDR81 CHAT HEPHL1 GLUL HRAS ZNF335 USP27X POLR1A NEK1 JAG1 SVBP RRAS AFF4 TANC2 NHS CNTNAP1 TARS1 BUD23 ALX4 HTT OSTM1 HHAT SNORD116-1 SLC39A13 PSMB8 SLC39A8 RPS26 IGF1 IGF1R SIM1 PHGDH BCL11B TBX15 DDR2 PWRN1 AUTS2 PIGO FANCE KNL1 ERMARD PHF6 MKRN3 DOCK3 MACROH2A1 EXTL3 P3H1 CLCN4 AHDC1 KIFBP CENPJ EPS15L1 KLHL15 CCL2 DNAI1 BRCA1 PDPN LTBP3 KYNU LFNG RPL10 STRA6 SLCO2A1 POLR3A SLC35A3 DEAF1 PEX1 HYLS1 PHF21A RAF1 HELLS KMT2A CHRNG PEX26 SERPINH1 ZNF41 OCLN PIGQ SELENON EMC1 RTTN PEX14 KDM1A ZIC3 HOXB1 RARB TELO2 CHST3 NELFA PRKACA SMO PIEZO1 TGFBR1 CDC6 PAX1 LMNB2 RAG1 CDCA7 ACP5 EDA SPRTN CUL3 TRAIP ZBTB20 EPG5 SON DOCK6 ERCC6 ERCC3 HESX1 MYF5 DPAGT1 SH3PXD2B RAG2 LUZP1 KCNJ6 ACTL6A ANK1 KCNJ5 TAF1 RAD51 NOTCH2 SLC25A22 ARID1A TMEM237 PAPSS2 PLCB4 TMEM107 VPS33B PRKACB ALOX12B RPL5 HCCS SCN2A ABHD11 ZBTB24 MEGF8 KDM6A NEUROD2 WAC POLD1 FANCI VARS1 CCBE1 MBTPS2 WDR26 STX1A CCDC22 CCDC8 NEPRO COL12A1 PCYT1A ABCA12 MYO18B MYH8 RIPK4 ASXL1 WDR73 STEEP1 UFD1 MED13 MRAS STAMBP POMT1 IFT57 AKT1 CSPP1 GTF2IRD2 ADA CHD4 IDUA ANAPC1 VPS37D GRIP1 BRF1 EDA2R CHST11 EFEMP2 EED TWIST1 SHH PDGFRB SF3B4 ALPL ANKLE2 PEX6 GNB2 ADA2 AGPS PDHA1 MMP23B PKHD1 GEMIN4 CRIPT UBR7 SH2B1 GPX4 SLC9A7 ANTXR2 TNFRSF11A TCTN1 GALNS PEX10 CDKN1C EFNB1 SUMF1 GRIA4 AIFM1 PIGP TBL2 NEDD4L MEIS2 WDR4 ERBB3 SLC35A2 KCNK4 PORCN BBS1 SSR4 B2M ALMS1 FGFRL1 CPLX1 VANGL2 GNAS-AS1 SRCAP BCR MMP2 KLHL41 OCRL GTF2H5 TASP1 IFT52 RAD21 ITGA7 CCNQ PURA TRIM8 JMJD1C LRRC32 DYNC1H1 IGFALS GDI1 DNA2 MECOM EIF2AK3 NIPBL CUL7 ZBTB16 SEC31A NSUN2 SMCHD1 RPL15 EDNRA KIF5C TGFB1 CPE TFAP2B PTCH2 PIK3R1 ABCD4 NKX2-6 ALOXE3 SPEG NBN CCN6 SHROOM4 TBCK RPL31 IDH2 B4GALT7 UPF3B RBM10 LEMD3 BRAT1 PAM16 KIDINS220 SRY NECTIN1 RREB1 INPP5K REV3L TRMT1 CSNK2A1 WASHC5 RPS17 HAAO FBXW11 COL6A1 CILK1 NSD2 GAD1 MYT1L RPS15A CDH11 WT1 IDH1 FOXF1 PIGV COL6A2 ALG14 FBXL3 SCN1B AGTR2 TBC1D20 CDK5 DPF2 GATAD2B CNOT2 CLCN7 KIF14 CHD7 SMARCB1 IRX5 GNAO1 SHANK3 PLCB3 PKDCC PIGF PIK3CA SPOP AFF3 ACTG2 HBA2 FAM149B1 POMGNT1 HINT1 PRMT7 FGF3 SEMA5A PGAP3 LEMD2 PALS1 KDELR2 PEX11B PCGF2 C1S TRAF3IP1 RPGRIP1 FUT8 SIX2 NCAPG2 KCNAB2 AGRN ASXL3 SPRED1 PGM1 EIF4A3 KPTN NBAS TRRAP FRAS1 BAZ1B HSD17B4 ADGRG6 CASZ1 HYOU1 PRDM16 NTNG2 HBA1 VPS53 PEX13 YARS1 BICD2 BMPR1A FKBP6 CLDN4 TRIP13 MLXIPL COX4I1 TCTN2 ASAH1 SMG8 IFT81 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SINUSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SINUSES AMER1 FLNA FUCA1 PDE4D DNAI1 ALX3 RUNX2 COL11A1 NOTCH2 ALX1 TRIM37 ATRX SMCHD1 AGA SFRP4 CTSK PRKAR1A SIX2 HP_APLASIA_HYPOPLASIA_AFFECTING_BONES_OF_THE_AXIAL_SKELETON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_AFFECTING_BONES_OF_THE_AXIAL_SKELETON ERCC2 ATR ATP7A A2ML1 TRPS1 CCDC32 KIAA0586 PIGA DIS3L2 BUB1B TENT5A ALX3 NUP107 SUFU SLC18A3 TPM3 TRPV4 DPM1 B3GALT6 BMPER DDRGK1 APC RAB23 TBXT TPM2 TCTN3 TNRC6B RERE WDFY3 PAX7 ARSL DHCR24 RHOBTB2 BRAF TBX4 NAA10 GATA1 CENPF ANKRD11 CBL MSTO1 SPEN PEX3 MAP2K1 AGA RBM8A CTSK SIN3A PEX12 SOS2 KCNK9 FLNB MYO9A COG4 COG8 SC5D EZH2 PLXND1 CSGALNACT1 NXN CHRNA1 LMNA KCNMA1 TUBB3 SOS1 RPS27 DYNC2H1 ERCC4 CHST14 MIR140 TMEM70 RAC3 EYA1 HACD1 HUWE1 PIGN FIG4 COL11A1 NRAS KCNJ2 CTBP1 NOTCH3 MKS1 PRKCZ C1R PLAG1 FAT4 LOXL3 EMG1 PEX5 KBTBD13 ARCN1 VAC14 ZNF699 HNRNPU ROR2 EFTUD2 MEG3 PHIP CDT1 MED12 ARSB PEX7 FKRP PQBP1 YARS2 EXT1 RPS29 RPS10 ZDHHC9 OSGEP NCF1 CREBBP HYMAI B9D1 FDFT1 POLE ATRX TRIP11 MYOD1 DPH1 PEX19 RRAS2 RFT1 SETBP1 DNMT3A AEBP1 DSTYK DHODH SLC25A1 CD96 COL6A3 FLNA PRRX1 BCL7B PTEN RPS24 PTCH1 CHN1 CHUK JARID2 COL13A1 BICRA NEB UBE3B B3GAT3 SCYL2 BUB1 COMT PIGB RAB3GAP2 DONSON PDE4D MAPRE2 ZMIZ1 DVL1 PLA2G6 SLC2A10 DCHS1 COASY BRCA2 C12orf57 CEP152 COG1 RECQL4 MPLKIP WDR35 CHSY1 PGAP2 FUCA1 GDF11 ORC4 GSC CHAT ANTXR1 ELN ADAMTS2 TBCE SIX1 EIF4H FN1 RAB18 HRAS ZNF335 HMGA2 NKX3-2 SRPX2 POLR1A B9D2 NEK1 SVBP RRAS TOR1A LIG4 AFF4 FUZ TANC2 CNTNAP1 COL11A2 MED27 BPTF COL9A2 POLR1B ECEL1 BRD4 EDN1 TARS1 BUD23 MTX2 ALX4 RUNX2 KAT6A PI4KA VANGL1 OSTM1 FBN1 MSX2 HIRA STAG2 PSMB8 CLDN3 HNRNPH2 RPS26 IGF1 TBX1 PTDSS1 SETD5 TMEM216 MYH7 FANCB IGF1R FGFR2 SIM1 HSPG2 PHGDH TAB2 TBCD BCL11B SLC26A2 MYPN TBX15 DZIP1L KAT6B CC2D2A ZMPSTE24 AMER1 DDR2 SMC1A NUP133 AUTS2 FKTN KNL1 CASK ERMARD SATB2 KCNN3 STAG1 DOCK3 D2HGDH EXTL3 ADAT3 RAPSN GLE1 AHDC1 POLR1C COL1A2 SEC24D TOE1 CENPJ SOX2 COL2A1 CCL2 VPS13B NEK9 RTL1 DNAI1 EIF5A CEP57 BRCA1 TMEM270 GHR SLC29A3 SATB1 PDPN LFNG ZBTB18 CEP290 RAD51C RPS28 RPL10 SALL4 BUB3 STRA6 RIT1 BMP2 PIGL TRAPPC2 POLR3A SLC35A3 RPL18 DEAF1 PEX1 DNMT3B HYLS1 PHF21A SLC25A24 ABCC9 ESCO2 DOK7 RAF1 HELLS KMT2A ATRIP CHRNG PEX26 SERPINH1 OCLN GNAI3 TCIRG1 NFIX SELENON EMC1 RTTN PEX14 MYL2 ZIC3 HOXB1 NSDHL IFT43 SMC3 ACTB TCOF1 FGD1 RARB TELO2 SLX4 ALX1 CHST3 NELFA IFT80 COL1A1 BMP4 TP63 FGFR3 PTH1R SMO PIEZO1 RNF113A ARID2 METTL27 TGFBR1 MAPK1 MAFB PEPD CDC6 ARID1B MADD COMP LMOD3 NALCN RELN KIF7 TSEN54 PSMD12 MUSK PAX1 TSR2 PPP1R12A HS2ST1 CDCA7 PPP1R15B ZC4H2 MAP3K7 SPRTN CWC27 TRAIP PUS7 EPG5 SLC10A7 DOCK6 ERCC6 FGFR1 ERCC3 PDE6D MYF5 IQSEC2 DPAGT1 PPP3CA SH3PXD2B TFAP2A LUZP1 TGDS GJA1 RLIM XRCC4 KDM4B SLC25A19 KCNJ6 ACTL6A HOXD13 RFC2 MAPK8IP3 ALG1 WNT5A TRIM37 PIGW LAGE3 ANK1 KCNJ5 UBE2T TAF1 B3GLCT PIGQ IGF2 RAD51 ALG12 NOTCH2 CPLANE1 SNRPB ORC6 COL3A1 INPPL1 PIGG COG7 TMEM237 PLCB4 TMEM107 VPS33B NODAL ZNF341 RPL5 HCCS CLIP2 EBP FANCE ABHD11 SCUBE3 SNAP25 ZBTB24 PIGT KDM6A LETM1 BDNF POLD1 FANCI ADGRG1 VARS1 PAX6 NUP88 MBTPS2 WDR26 STX1A MITF ACVR1 TRIP12 COL12A1 EP300 RPS19 FANCL PSAT1 LAS1L MYO18B MYH8 BGN BPNT2 RIPK4 ASXL1 RBBP8 TWIST2 OFD1 FAM20C SIX6 RPL11 WDR73 CLTCL1 DPYSL5 SUZ12 OTX2 ATAD3A GNPTAB CLCF1 DDX6 ALG9 UFD1 TRIO MED13 RNU4ATAC MRAS TNNT3 FBN2 LZTR1 POMT1 ACTA1 DYNC2I1 AKT1 CSPP1 SP7 TAPT1 GTF2IRD2 TGFBR2 TBX6 GP1BB STAC3 SKI POR CHD4 PIEZO2 HDAC6 IDUA BLM VPS37D GRIP1 BRF1 CTDP1 MAP3K20 RAB3GAP1 GPC6 RMRP EFEMP2 EED FANCD2 TRIP4 PDGFRB LARGE1 SF3B4 ALPL WNT7A SHOX EXT2 ANKLE2 KMT2E NF1 PEX6 GTF2I SLC35D1 HDAC8 GNB2 CFL2 ADA2 INTS1 MYCN AMMECR1 TRPV6 MMP23B DNAJC21 RSPO2 PKHD1 MCTP2 C2CD3 GEMIN4 CRIPT SH2B1 SOX9 TNFRSF11A P4HB RAB33B TXNL4A TCTN1 BANF1 GALNS FZD2 DLK1 PRKAR1A PEX10 CDKN1C EFNB1 SUMF1 GRIA4 HES7 CENPE MECP2 PLAGL1 AIFM1 GNPAT ERCC1 ACTL6B SFRP4 TBL2 RFWD3 NEDD4L LRP4 COL9A1 WDR4 ERBB3 TUBB GUSB PEX16 PYROXD1 PTPN23 RPS20 UBR7 KCNK4 PORCN SSR4 ERGIC1 RINT1 UNC80 DVL3 MYH3 RPGRIP1L FGFRL1 DPM2 SOX6 CPLX1 LBR TMEM67 MNX1 VANGL2 RAI1 HPDL RPL26 PUF60 DNAJC30 DYRK1A GMNN PUS1 SYT2 BCORL1 SRCAP CEP55 MMP2 TP53RK MCM5 KLHL41 OCRL GTF2H5 AGO2 PTPN11 TXNDC15 TASP1 EVC2 POC1A RAD21 ITGA7 DYM SEC24C PURA LMX1B SPECC1L RPL27 POLR1D NSMCE2 JMJD1C LRRC32 ORC1 WASF1 IGFALS DNA2 KDM5C ASNS EIF2AK3 NIPBL CUL7 GLI3 SEC31A ATP6V1B2 NSUN2 SMCHD1 FANCA RPL15 DHCR7 UBE4B CANT1 CCDC22 EDNRA UBA1 PLK4 CNOT3 EVC CPE TCF20 FGF10 PTCH2 LGI4 TBC1D24 ARL6IP6 ABCD4 KAT8 GPX4 MYMK TTC21B SPEG NBN PLAA GTF2E2 TBCK GPKOW RPL31 PEX2 B4GALT7 CEP120 RBM10 WNT3 LEMD3 FANCF ZNF292 BRAT1 ARVCF PAM16 KIDINS220 KCNH1 NFASC SRY KIAA0753 COX7B TTN NECTIN1 RREB1 REV3L TRMT1 CSNK2A1 WASHC5 TRAPPC4 RPS17 SLC5A7 HAAO FBXW11 COL6A1 CILK1 NSD2 GAD1 MYT1L PSPH RPS15A LONP1 FLVCR2 WT1 TMEM231 GTF2IRD1 ERCC5 KRAS MYBPC1 NTNG1 FLII GATA4 TBX3 RPL35 FOXF1 PIGV TRMT10A RPL35A COL6A2 ALG14 GLB1 FBXL3 SLC12A2 NDUFB11 TBC1D20 ACTG1 MBD5 ADAMTSL2 DYNC2I2 TPRKB PIGY CDK5 GATAD2B CNOT2 XYLT1 KIF14 IRF6 CHD7 IRX5 XRCC2 TWIST1 IHH SHANK3 PCNT TMCO1 PLCB3 PKDCC PIGF PIK3CA CTNND2 CHRND INTU DSE SPOP COL5A1 YY1 IFT122 AFF3 FANCC ACTG2 HBA2 FAM149B1 POMGNT1 PAH FLCN FGF3 ARX SEMA5A PGAP3 MAD2L2 LEMD2 PALS1 RB1 KDELR2 LIFR SMOC1 TBX5 PEX11B SEMA3E RDH11 UPF3B BCOR PCGF2 DYNC2LI1 C1S RPGRIP1 SIX2 NCAPG2 CRLF1 LAT2 KCNAB2 MINPP1 IFT172 AGRN ASXL3 SPRED1 TNNI2 IFT140 PGM1 RPS7 EIF4A3 POMT2 KPTN DPYD LIMK1 CDC45 TRRAP FRAS1 BAZ1B HSD17B4 PIGO ADGRG6 CASZ1 SNRPN NOG PIK3R1 HYOU1 VAMP1 PRDM16 NTNG2 HBA1 LTBP4 VPS53 PEX13 EXOC6B YARS1 FLI1 BICD2 BMPR1A ATP6AP2 VPS35L FKBP6 NSD1 CLDN4 RASA2 HTT TRIP13 FANCG MLXIPL CTU2 TCTN2 COL9A3 BRIP1 SMG8 GABRD IFT81 FANCM PALB2 GBA HP_MIXED_HYPO_AND_HYPERPIGMENTATION_OF_THE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIXED_HYPO_AND_HYPERPIGMENTATION_OF_THE_SKIN POFUT1 KRT5 PCNT POGLUT1 ADAR PIGN PSENEN KRT14 UBE2A SASH1 LMNA SMS HP_ABNORMAL_ADIPOSE_TISSUE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ADIPOSE_TISSUE_MORPHOLOGY PPARG RPL10 ENPP1 PPCS CFHR3 ALX3 POLR3A PTEN KIF11 LMNA TNNI3 TGFB1 SLC25A24 RBM28 TRMT10A TYROBP CDKN2B FOS MT-TP PLN COL1A1 APC TNNT2 GRM7 LIPE ACTB FAS TMPO OTULIN CAVIN1 NAA10 TOP3A AGPAT2 FKTN BANF1 MSTO1 ATP6V0A2 ALX1 KRAS INSR TXNRD2 KCNK9 IFIH1 TMEM43 MFN2 SAMHD1 AKT1 TAF1A NEXN VCL ANKRD1 ADAMTSL2 B4GALT7 SOX18 RBM20 ERCC8 LMF1 RNF113A MT-TF PRDM16 MT-TH PLIN1 KLLN PIK3CA CAV1 SDHC MYH7 TREM2 CAP2 SPRTN POMC VPS4A MYH6 DOLK PORCN ABCC9 PSEN1 ERCC3 RNASEH2B PPP1R15B ABCC6 ALMS1 ZSWIM6 TNNC1 ZMPSTE24 LCK TPM1 ERCC2 GATAD1 LAMA4 ADA2 ALB HAVCR2 VANGL2 SYNE2 KCNJ6 VANGL1 FUCA1 ACTN2 TAF1 AKT2 FLNA CDKN1B USP8 DDOST PSMB4 SLC2A2 FH MT-ND5 ATP6V1A FBN1 PTF1A ALG3 USF3 FGFR1 ADAR COL3A1 GTF2H5 DSG2 TGFB3 DSP LEMD2 TBL1XR1 CFHR2 RNASEH2C MT-RNR1 LMNB2 WRN RASGRP1 MC4R MPLKIP BSCL2 ALG8 MYPN DES CLMP RNASEH2A ERCC4 SYNE1 ADAMTS2 SLC29A3 CASP10 TREX1 FLCN MT-TQ POLD1 TAFAZZIN ATP6V1E1 INPP5K FHL2 CIDEC DPAGT1 SCN5A MEN1 SPRED1 PSMB9 LEMD3 PRKACA FUZ TARS1 MTX2 SDHD MT-TL1 MEFV MT-TS1 ALG11 PSMB8 GNA11 SGCD PMM2 PIK3R1 MYSM1 SDHB DMD IGF1R HAND2 ALG9 SEC23B GTF2E2 CDC73 MT-TK SDHA FHL1 VDR PSEN2 CSRP3 AP2S1 CHCHD10 ALG12 TCAP ACTC1 BMPR1A PRKCD SKI CDKN2C COL1A2 CRYAB PHGDH CDKN1A BLM RAF1 MT-TS2 FASLG MYBPC3 CCL2 CDH23 ERCC6 LDB3 PSMG2 TTN PDGFRB TBXT EMD PCSK1 BAG3 HP_LIPODYSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIPODYSTROPHY PLIN1 PPARG CFHR2 PPCS CFHR3 RNASEH2C POLR3A LMNA LMNB2 TNNI3 WRN ALB ZMPSTE24 BSCL2 FOS MYPN DES PLN CLMP RNASEH2A TNNT2 SYNE1 GRM7 SLC29A3 TREX1 LIPE ACTB POLD1 TMPO TAFAZZIN FBN1 OTULIN CAVIN1 AGPAT2 FKTN BANF1 FHL2 CIDEC ATP6V0A2 KRAS TXNRD2 DPAGT1 PIK3CA SCN5A IFIH1 TMEM43 PSMB9 SAMHD1 TAF1A NEXN VCL ANKRD1 RBM28 B4GALT7 MTX2 RBM20 LMF1 DOLK PRDM16 PSMB8 SGCD PMM2 PIK3R1 CAV1 DMD MYH7 IGF1R CAP2 SPRTN HAND2 VPS4A MYH6 ALG9 ABCC9 SDHA PSEN1 FHL1 RNASEH2B SLC25A24 PSEN2 TNNC1 CSRP3 KCNJ6 TPM1 GATAD1 LAMA4 TCAP ACTC1 ATP6V1E1 SYNE2 CRYAB FUCA1 ACTN2 AKT2 RAF1 FLNA USP8 DDOST PSMB4 MYBPC3 ATP6V1A CDH23 LDB3 PSMG2 TTN ALG3 ADAR COL3A1 PDGFRB DSG2 EMD FGFR1 BAG3 DSP HP_INCREASED_ADIPOSE_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_ADIPOSE_TISSUE MTX2 INPP5K LMNA POLR3A MT-TK POMC LIPE AKT2 CHCHD10 MC4R PCSK1 HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_LIMBS SARDH PPARG SEPSECS OPA1 HOXA13 MPV17 TRPS1 SGCD WASHC5 CFL2 PDK3 CACNA1A ADA2 FLI1 GNE SLC18A3 L1CAM TPM3 ALX3 RTN2 LMNA ERCC8 PLP1 KIF5A CHCHD10 ADAR EGR2 NEFL PNPLA6 GALC KANSL1 LDB3 ABHD5 DNAJC6 CAPN3 HARS1 SYNJ1 RAF1 VAMP1 SPG11 PRNP FAR1 OBSL1 TK2 SH3TC2 TTN LIPE MPZ COL13A1 MYH7 CDK19 HMBS RHOBTB2 SLC13A5 TBCE VCP COX6A1 GATA1 HINT1 RYR1 ERCC6 GYG1 SGCG ZFYVE26 SCN4A YARS1 CEP126 DES ALDH18A1 ZFYVE27 SPTLC2 PIK3CA PMP22 DMD TRPV4 MYO9A POLG2 CAV3 CNKSR2 PLXND1 CLTC DAG1 GIPC1 CSGALNACT1 CRPPA GABRB2 RPS27 VHL DOK7 ATL1 TDP1 TNPO3 NTRK2 DYSF GABRA3 PDGFB GABRA2 HACD1 TRAK1 MAPT KIF1B MAP3K20 CHRNE BAP1 TRAPPC11 PYROXD1 BRAF SLC1A2 RPS20 SGCB PIGP GMPPB ERGIC1 KBTBD13 GARS1 CYP7B1 POLG AP5Z1 CPOX SPATA5 NF1 PIGN NDUFC2 MTAP DNAJC12 POMT1 HSPD1 AFG3L2 ANO5 RPS29 ADCY5 AMPD3 TPM2 RPS10 PABPN1 COG4 HSPB1 SMN1 ASXL1 RPL26 PCCA COL12A1 SYNE1 KIF1A PPOX GCH1 UBTF TSEN2 SYT2 CHRNA1 RRM2B MME CAPN1 TYMP BVES SORD DSTYK ATP6V1A VPS13A ACTL6B SLC25A1 FHL1 KCNJ2 KLHL41 PTPN11 MTMR14 GJB1 SIGMAR1 RPS24 COL6A3 UBA5 ANO10 ITGA7 LRSAM1 SPEG DNM1 LMX1B NEB COLQ RPL27 SMAD6 SLC6A3 PNPLA2 MYH14 DNA2 GBA2 TFG ATRX HADHA PRPS1 ERCC1 COX20 DMPK GDF11 FGD4 SDHAF1 FKRP AARS1 CHAT CHRND SACS EYA1 KDM5C CUL7 RAB7A KIDINS220 SRPX2 TIA1 VPS37A CYFIP2 NUP62 ACTA1 RPL15 LYST MYPN WDR48 DNM1L PARS2 ADSS1 RAPSN SCN3A KAT6A SMCHD1 MFN2 DHX16 SLC39A13 CPLANE1 REEP1 SPG7 SMO TCAP EEF1A2 LGI4 MTRR DPAGT1 SLC12A6 DNAJB2 CLDN11 AMPD1 MYMK MATR3 COL6A1 SCO2 STXBP1 SLC30A9 TBX3 LARGE1 CRYAB WWOX PRX RPL31 SDHB RASA1 GFM2 KDM1A KATNB1 FLNC EXTL3 HNRNPA1 HK1 ACOX1 USP8 SLC52A2 POMT2 FBN1 GRIN2D KY FGF10 TSEN15 PPP3CA MTTP BSCL2 SDHA FGF13 SPAST AR SRY DCTN1 LIMS2 POMGNT1 LAMB2 SPG21 REV3L SPTLC1 AGRN COL6A2 PSAP STIM1 RPS17 SLC5A7 TSEN34 KCNA1 BTD SDHD SQSTM1 RPS28 DMXL2 RPS15A CCNF NDUFA9 PNKP RPL18 DKK1 POMGNT2 MYBPC1 KCNJ18 MT-TE DYM RARS1 RPL35 DNAJB6 GRM7 FBXW11 ATP1A1 MTHFR ACTB RPL35A EMC1 GAN MYL2 AKT1 FBXO38 ERLIN2 CHRNB1 ALX1 POPDC3 GNB1 KCNA2 BICD2 CLCN1 HNRNPDL UBAP1 GABRG2 TSR2 TMEM43 KCNJ10 SPART HADHB TRIP4 INF2 PAX3 WARS2 NECAP1 LBR DYNC1H1 MCM3AP MYF6 NDRG1 LAMA2 CPT1C PIEZO2 ALS2 LMOD3 CELF2 PAX1 MORC2 SLC25A21 HCN1 FRG1 MAP3K7 C19orf12 FRMD4A SCYL1 KLHL9 MTRFR IGHMBP2 RPL5 DPM3 PLOD1 SBF2 KARS1 ALAD ATL3 BIN1 PLEC FGFR2 HSPB3 MUSK POGLUT1 PLAA TRAF7 ATP7B CACNA1S SYNE2 RPS26 SLC25A19 FXN LRP4 ARV1 SVBP VMA21 MT-ATP6 SUFU GDAP1 EPHB4 SALL4 SLC25A4 RBM8A ATP13A2 ALG2 FAM126A COMP TGFB3 PLIN1 MARS1 ABCD1 AP3B2 DDHD1 RAI1 AK9 ALG14 NGLY1 TBX5 SLC35C1 KCNB1 ATP6V0A2 MTPAP ARSI DGUOK EBP FUZ FLNA NF2 MYOT SMARCB1 ASAH1 SNAP25 SPR DHPS DARS2 ORAI1 NCAPD3 CD59 SEPTIN9 ADGRG1 DDHD2 FKTN PHYH IBA57 AAAS GABRA5 RPL11 CCDC8 TRIM32 PEX7 LTBP4 RPS19 CACNA1B NOTCH2NLC SMARCE1 RPS7 TARS2 TWNK ALG11 NEFH NIPA1 PYCR2 MYH2 SBF1 DHDDS TERT COA7 POLR3A SCN8A SLC16A2 SLC52A3 DNM2 PI4KA YWHAG FA2H POMK FBN2 UNC45B SYNGAP1 FGF12 PNPT1 VWA1 SLC33A1 SELENON PCCB RNASEH1 FGFR3 SGCA GFPT1 POU3F4 FLNB HSPB8 BRF1 NUS1 PODXL ACTN2 DALRD3 SZT2 TSEN54 PLOD3 CIDEC CAV1 DDC GMPPA EMD LRP12 HP_UPPER_LIMB_AMYOTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_LIMB_AMYOTROPHY FLNC BSCL2 MORC2 SLC25A21 NGLY1 MATR3 GARS1 TRPV4 SLC52A3 GJB1 KIF5A PDK3 FUZ KLHL9 CYP7B1 LDB3 HARS1 TIA1 ANO5 CHCHD10 MYH7 MPZ CAV3 HK1 VCP DYSF NEFL FXN KY HSPB1 RYR1 REEP1 PMP22 KANSL1 SVBP ACTA1 CEP126 SPG11 DCTN1 ADSS1 HINT1 GDAP1 SLC39A13 INF2 PLOD3 KAT6A GIPC1 NEB NDRG1 CPLANE1 NEFH ALS2 COMP SQSTM1 SH3TC2 HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_FEET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_FEET ZMPSTE24 COL3A1 MMP14 MTX2 RETREG1 LMNA MMP2 NOTCH2 KIF1A MAFB SCN9A WNK1 HP_DUPLICATION_INVOLVING_BONES_OF_THE_FEET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUPLICATION_INVOLVING_BONES_OF_THE_FEET CEP120 SEC24C TMEM107 LMBR1 DYNC2LI1 RAB23 CTBP1 PRKACB KIAA0586 AHI1 COMT TMEM138 TMEM231 SMOC1 KIF7 ARMC9 INPP5E SPEN JMJD1C ARL6 EVC DDX59 TMEM237 GLI3 PIK3CA ROR2 EBP NPHP3 OFD1 WDR19 SC5D TCTN2 IFT80 TCTN3 MMP23B C2CD3 LETM1 HYLS1 NSD2 RPGRIP1 GLI1 CIBAR1 ABCA12 CEP41 KCNAB2 TCTN1 TMEM216 TTC21B BMP4 B9D2 NEK1 CCDC28B DHCR7 CSPP1 UBE4B BBS2 ARL13B PORCN CPLANE1 FGFR2 CEP104 CEP290 KATNIP TMEM67 MKS1 HIRA PIBF1 EVC2 TFAP2B ZNF423 CBY1 ARL3 SKI TBX1 OTUD5 B9D1 IFT172 RERE PRKCZ HSPG2 DYNC2H1 UFD1 IFT74 BBS1 CASZ1 DVL1 CC2D2A PRDM16 PDE6D BBS9 ZSWIM6 KIAA0825 SETD5 RPGRIP1L GP1BB FGFRL1 DYNC2I1 LUZP1 EXTL3 PLAA CPLX1 LBR SUFU DYNC2I2 CD96 MEGF8 LZTFL1 MKKS WNT5A ARVCF HOXD13 FAM149B1 PITX1 KIAA0753 RREB1 PPP2R3C TXNDC15 IFT140 GABRD PDPN SMO SHH HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_LOWER_LIMBS BHLHA9 NOG GDF5 FLNA TBX4 MYH3 MKKS FGFR2 BMPR1B POR SALL1 SMOC1 HOXD13 LMBR1 FLNB GDF6 FGF9 GLI3 SLC26A2 FGFR3 FBLN1 OFD1 TNNT3 CHSY1 TPM2 FGFR1 NALCN TNNI2 ATP7A MAP3K7 HP_DEPLETION_OF_MITOCHONDRIAL_DNA_IN_MUSCLE_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEPLETION_OF_MITOCHONDRIAL_DNA_IN_MUSCLE_TISSUE POLG2 TYMP SUCLG1 POLG TWNK TK2 SLC25A10 RRM2B SLC25A4 HP_SUPERNUMERARY_BONES_OF_THE_AXIAL_SKELETON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPERNUMERARY_BONES_OF_THE_AXIAL_SKELETON PTCH2 ZBTB16 SKI DHODH IKBKG ANKRD11 AFF3 TBX6 SON SUFU ANK1 RBM8A GATA6 SOX2 MAF GDF11 RUNX2 PAX3 IFT57 GPC3 PUF60 GPC4 ACTB PTCH1 NIPBL SIX6 MTX2 HP_ABNORMAL_CEREBRAL_ARTERY_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CEREBRAL_ARTERY_MORPHOLOGY BRCC3 MYLK RNF213 NF1 FARSB COL1A1 SMAD2 TGFBR2 RNASEH2C COL3A1 PRKG1 PKD2 BICC1 PRKAR1A GAA FBN1 FOXE3 MYH11 LOX PKD1 COL4A1 GUCY1A1 PCNT LDLR ENG MAT2A RNASEH2B RNASEH2A ANGPTL6 APOB TREX1 ELN TONSL ALG9 THSD1 TGFB2 SPTBN1 PCSK9 PDGFB COL5A1 HTRA1 SMAD3 TGFB3 ACTA2 TGFBR3 MFAP5 ABCG5 GGCX APP LDLRAP1 IFIH1 SMARCAL1 SAMHD1 TGFBR1 NDE1 GANAB DNAJB11 ABCG8 COL5A2 PLOD3 SLC20A2 ADAR STAT1 HEY2 PDGFRB BGN SMAD4 HP_ABNORMAL_CALCIFICATION_OF_THE_CARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CALCIFICATION_OF_THE_CARPAL_BONES SLC34A2 ABCC6 DDR2 ENPP1 EBP HP_JOINT_CONTRACTURE_OF_THE_5TH_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_CONTRACTURE_OF_THE_5TH_FINGER FBXW11 ZDHHC9 PITX1 HOXD13 PYROXD1 SLC29A3 LIFR GJA1 AUTS2 PIGL CTCF HP_PSEUDOEPIPHYSES_OF_THE_METACARPALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSEUDOEPIPHYSES_OF_THE_METACARPALS CPLX1 NSD2 PCNT CTBP1 FGFRL1 RPS6KA3 LETM1 SALL1 HP_DEVIATION_OF_THE_4TH_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVIATION_OF_THE_4TH_FINGER IHH KNSTRN SNRPN PIK3CD ABCC8 KCNJ11 HP_ABNORMAL_3RD_FINGER_PHALANX_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_3RD_FINGER_PHALANX_MORPHOLOGY GDF5 FGFR2 TWIST1 CHSY1 GNAS COL2A1 HP_DEVIATION_OF_THE_3RD_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVIATION_OF_THE_3RD_FINGER GDF5 PKDCC IHH KNSTRN PIK3CD DLK1 FGFR3 FGF10 FGFR2 RTL1 PTRH2 MEG3 HP_APLASIA_OF_THE_FINGERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_FINGERS SF3B4 RSPO2 RPS28 RPL11 RPS15A FIG4 RPL27 FANCI ADA2 SMOC1 TBX5 SEMA3E CUL3 RPL18 DOLK SON TRIO RPS20 ESCO2 DLX5 SLX4 RPL5 FANCF FANCB RIPK4 GJA1 RPL31 NEK1 VAC14 MEGF8 RPL35 FGFR2 RFWD3 FANCE SALL4 LMBR1 WNT7A RPL35A FGFR3 NIPBL EN1 FANCA BMPR1B WNT10B BHLHA9 RPL26 RPS29 ZBTB16 FANCL RPS10 RPS19 GATA1 RPS26 FANCC FGF10 RPL15 FANCD2 TSR2 RAD51C PORCN ERCC4 RPS7 RPS17 RECQL4 SHH RPS27 LMNA RPS24 CHD7 PSMD12 HP_ULNAR_DEVIATION_OF_THE_2ND_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ULNAR_DEVIATION_OF_THE_2ND_FINGER GDF5 BMP2 HOXA13 BMPR1B PTRH2 TGDS HP_ULNAR_DEVIATION_OF_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ULNAR_DEVIATION_OF_FINGER RAB3GAP2 HOXA13 CD96 LIFR MYMK NALCN HOXD13 BMP2 GDF5 B3GALT6 MYH3 SALL1 SLC26A2 TNNT3 CRKL RAB3GAP1 MYBPC1 FBN2 BMPR1B BCR TPM2 HRAS PTRH2 TNNI2 MAPK1 DHCR7 EXOC6B TBX22 DACT1 WNT7A PAX3 SHOX TGDS HP_RADIAL_DEVIATION_OF_THE_2ND_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RADIAL_DEVIATION_OF_THE_2ND_FINGER FLNA IHH BMP2 CANT1 BMPR1B TGDS GDF5 HP_DEVIATION_OF_THE_2ND_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVIATION_OF_THE_2ND_FINGER HOXA13 CHSY1 CANT1 BMPR1B PTRH2 CSGALNACT1 GDF5 FLNA OPA3 IHH KNSTRN BMP2 PIK3CD MED25 MED12 TGDS HP_JOINT_CONTRACTURE_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_CONTRACTURE_OF_THE_HAND ERCC2 LMBR1 GPC4 RTL1 WDR73 IRF5 NLRP3 LFNG ALX3 BCOR SH3PXD2B CCN6 FBN1 TBC1D2B FLVCR1 COL12A1 TPM3 RIPPLY2 POR SLC35A3 TRPV4 KIF5A GLI3 RAB23 SVIL CAV1 MMP23B NUP88 CHRNG FBXW11 MBTPS2 PIEZO2 RTTN ANTXR2 LMX1B DHCR24 IDS SMOC1 MYL2 MESP2 SPEN ALX1 WNT5A FGFR3 FKTN BMP4 MYH3 EFNB1 OCRL APC2 PITX1 TPRKB PAX3 EZH2 ERCC1 GJA1 NXN TGFBR1 MEGF10 SMARCAD1 LIFR CUL4B MUSK FLNA WDR4 HACD1 COL11A1 DLL3 MORC2 ACTA1 TBX15 HOXD13 MAP3K7 CDC6 RERE PRKCZ SLC35A2 PYROXD1 PORCN MAFB IGHMBP2 NALCN EMG1 PEX5 AMER1 MYBPC1 ERCC6 CTCF ROR2 MEG3 GPC3 ECE1 CDT1 MED12 ADAMTS3 NOD2 PQBP1 ZMPSTE24 LUZP1 TGDS TPM2 IKBKG ZDHHC9 SHH PEX6 ORC1 LAGE3 ACTG2 GMNN MYOD1 OSGEP MYLPF CNTN1 PIGL CRKL HINT1 ARID1B BCR GTF2H5 DHODH MMP2 COG5 TP53RK SLC26A2 CCN2 TNNI2 MED25 COL6A3 TGFB3 ITGA7 LAMC2 ADAMTSL2 PRG4 NOG TMEM70 L1CAM TP63 SLC18A3 CAPN3 FGFR2 DVL1 HLA-DRB1 UPF3B FAT4 DYRK1A KIAA0319L TNNT3 KDM5C ORC4 DOK7 NSD1 LAMA3 ANO5 CCBE1 CRLF1 ITGB4 ALG3 NUP107 C19orf12 KCNAB2 NEFL DDR2 ASXL3 FHL1 SETD2 UBE4B HES7 IDUA SMC1A TRPS1 MAPK1 IL6ST DLK1 SLC39A13 SCARF2 PSMB8 SKI CDC45 PEX1 UBA1 XYLT1 COL17A1 SUZ12 RPL10 POLR3A COL6A1 FBN2 HSPG2 PLEKHG5 CLCF1 TBX3 DVL3 POLR3GL SMG9 GPKOW COL6A2 CCR6 CASZ1 FERMT1 COL2A1 PRDM16 NUP133 AUTS2 TGFBR2 NAA10 PTRH2 UROS LARGE1 SELENON SLC29A3 ADAT3 ERCC5 CDH3 RAPSN CANT1 TBR1 SMAD3 PHGDH KCNK9 TUBB3 LMNA CHST3 GDF5 FGD1 CTDP1 RAB3GAP1 MAP3K20 COL11A2 PMP22 LAMB3 FZD2 TWIST2 TCTN3 ORC6 EED GABRD PDPN KAT6B HP_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND ATR RNU4ATAC A2ML1 HOXA13 HMGA2 GTF2I HDAC8 BUB1B ALX3 SH3PXD2B MYH3 HERC2 LMNA TRPV4 B3GALT6 FANCB ARL6 MYCN AMMECR1 RTL1 MAN1B1 RBBP8 EBP RAB23 SPOP TPM2 TCTN3 ALG9 MMP23B BPTF MCTP2 OBSL1 CRIPT NUP37 ABCC8 BRAF GATA5 ANKRD11 CBL SPEN RAB18 MAP2K1 MAP1B TP63 ZEB2 RBM8A NEXMIF BMP2 CDKN1C ACVR1 SIN3A SOS2 EFNB1 MGAT2 NIN COG8 CENPE PITX1 NKX2-5 RBM28 BMPR1B PLXND1 CSGALNACT1 NXN TBL2 SHANK3 SOS1 RFWD3 NOG ERCC4 NKX2-6 KCNJ11 BHLHA9 CLCF1 OTUD5 AKT1 PIGN COL11A1 NRAS MIA3 MKS1 SATB2 TBX15 HOXD13 RERE PRKCZ PLAG1 GLI3 KCNK4 NDN IGF2 BBS1 NALCN EMG1 WDR4 SALL4 DVL1 RSPRY1 MADD GPC4 CTCF ROR2 MEG3 CDT1 MED12 MAPK8IP3 FGFR3 EXT2 PQBP1 YY1AP1 SOX6 LBR NCF1 CREBBP ATRX PUF60 DNAJC30 BRCA1 GMNN MYLPF CNTN1 SALL1 PPP2R1A CCDC8 RRAS2 CEP55 SETBP1 YWHAE BCR SNRPN COG5 SLC26A2 KCNJ2 CD96 CHD7 FLNA BCL7B OPA3 HIC1 RAD21 EPB41L1 CCNQ GATA6 LMX1B PTPN11 TBX1 PPP1R21 SLC9A7 BUB1 BRCA2 C12orf57 GDF1 CEP152 ORC1 GDF5 EVC2 RNF216 CHSY1 SRCAP ORC4 UBR1 MECOM KIAA1109 ELN PIGH RUNX2 NIPBL CUL7 SHOX EIF4H STAG2 COL9A2 CITED2 PACS2 HOXA11 NSUN2 FANCA RRAS LIG4 TMEM94 IFT52 DHCR7 UBE4B H19 BRD4 CANT1 BUD23 HRAS PI4KA PLK4 ATG7 SNORD116-1 PIK3CD DACT1 CLDN3 TFAP2B GATA4 ATN1 IGF1 MYOD1 TBC1D24 MOGS KIF7 ODC1 IGF1R NPR2 MYMK RPL10 PIEZO2 TBX4 HSPG2 DSP KMT2A CPLANE1 TCF4 SMC1A PWRN1 MECP2 NAA10 DPYSL5 SIAH1 KDM1A ZNF462 ZC4H2 STAG1 MKRN3 LEMD3 PWAR1 MACROH2A1 QRICH1 FANCF PNPLA6 ZNF292 FGF10 PHGDH XRCC4 GJA5 B3GLCT FGD1 KIAA0753 VPS13B JAG1 NEK9 REV3L CEP57 FZD2 EP300 TMEM270 PDPN PHF21A PAX3 CILK1 RAD51C LONP1 CNOT3 BUB3 RIT1 BCOR CHRNA7 FLNB GTF2IRD1 KNSTRN RAI1 DEAF1 KRAS PEX1 ESCO2 DOK7 RAF1 OFD1 CCDC32 FLII ATRIP SLC2A10 SMC3 TNNT3 TELO2 SLX4 ABL1 ALX1 BMP4 KPTN POLA1 WNT5A CCDC28B ZFPM2 IFT43 MBD5 MASP1 FLT4 CNOT2 EVC SHMT2 EZH2 METTL27 MAFB TCF20 SEMA3E ARID1B BLM GJA1 COMP FGFR2 TRAPPC9 CKAP2L ATP6V1B2 CUL4B RAB3GAP2 MUSK CDC42 LMNB2 XRCC2 COL9A3 HDAC4 MAP3K7 CDC6 TRAIP UBE3B DYM PCNT DLX3 PTEN AMER1 PKDCC NEK1 PIGS PDE6D SPECC1L GPC3 DPAGT1 LMBR1 TFAP2A DONSON LUZP1 TGDS SMARCA2 WDR19 NONO KDM4B KAT8 IKBKG IFT122 SHH FANCC RFC2 USP7 FAM149B1 UBE2T PIGL CRKL RAD51 PTF1A OGT SNRPB MAGEL2 TNNI2 MED25 AFF2 COG7 MAD2L2 RB1 LIFR L1CAM PRKACB SMAD4 SMOC1 TBX5 ZIC3 CLIP2 FANCE ABHD11 EFTUD2 DHPS TBX22 WNT7A FANCI LAT2 STX1A KCNAB2 TMEM216 PAFAH1B1 ASXL3 SAMD9 MLXIPL FANCL EIF4A3 HPGD AGO2 BGN TRPS1 MAPK1 LIMK1 IQSEC2 SKI CDC45 TRRAP KDM6B SF3B4 BAZ1B XYLT1 IHH PACS1 ADGRG6 DVL3 TRIO MRAS WIPI2 MAF COL9A1 CASZ1 PIK3R1 FBN2 PRDM16 LZTR1 PTRH2 JUP CENPJ PTH1R EXOC6B GTF2IRD2 ALG12 BICD2 BRAT1 SOST FKBP6 CRLF1 CLDN4 RASA2 NPAP1 CHST3 VPS37D TRIP13 PRKDC FANCG TWIST1 CTU2 RAB3GAP1 MYBPC1 CHST11 ORC6 KLF13 BRIP1 FANCD2 WDR35 GABRD DLK1 UBE3A SNORD115-1 FANCM PALB2 KAT6B HP_RADIAL_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RADIAL_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND SF3B4 CLCF1 IGF1R COL9A3 SMAD4 MKS1 HERC2 FLNB ALX3 IHH GLI3 ATRX ALG9 ARL6 ESCO2 GDF5 NDN BCOR BBS1 ROR2 SALL4 COL9A1 CHSY1 NOG PIK3R1 DVL1 BMPR1B PWRN1 MED12 ZC4H2 FGFR3 MKRN3 FGFR2 TGDS OFD1 PWAR1 ANKRD11 IFT122 COL9A2 CD96 FGD1 FGF10 PHGDH WNT5A MAP2K1 BRAF CRLF1 TRPV4 PTPN11 BMP2 NPAP1 SAMD9 CCDC28B SIN3A SLC26A2 PITX1 CANT1 EIF4A3 SNRPN NAA10 BGN EZH2 CPLANE1 FLNA MAGEL2 SNORD116-1 SNORD115-1 IGF1 HP_RADIAL_DEVIATION_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RADIAL_DEVIATION_OF_THE_HAND PITX1 SALL4 COL9A1 SAMD9 GLI3 COL9A2 ZC4H2 EIF4A3 COL9A3 BGN HP_ULNAR_DEVIATION_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ULNAR_DEVIATION_OF_THE_HAND FLNA LBR MUSK COL9A1 RBM28 COL9A2 COL9A3 ALG9 DPYSL5 PAX3 ASXL3 MAP3K7 ZEB2 MAFB ADGRG6 SLC26A2 COMP PEX1 CILK1 HP_ABNORMALITY_OF_THE_PHALANGES_OF_THE_2ND_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PHALANGES_OF_THE_2ND_FINGER BHLHA9 RUNX2 BMPR1B HOXD13 KIF15 GDF5 FGFR2 TWIST1 INTU BMP2 MYCN COL2A1 HP_ABNORMALITY_OF_THE_MIDDLE_PHALANX_OF_THE_2ND_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MIDDLE_PHALANX_OF_THE_2ND_FINGER BHLHA9 RUNX2 BMPR1B HOXD13 GDF5 INTU BMP2 MYCN HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_2ND_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_2ND_FINGER BHLHA9 RUNX2 BMPR1B HOXD13 KIF15 INTU BMP2 MYCN COL2A1 GDF5 HP_ABNORMALITY_OF_THE_HAIRLINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_HAIRLINE NSD2 SMARCA2 RPS28 A2ML1 SMPD4 RPS15A HDAC8 CNOT3 DLX4 SATB1 ALX3 RIT1 MAFB KCNJ8 ADA2 MEOX1 KRAS KNSTRN RPL18 TECPR2 VPS51 SLC25A24 SPEN CDH1 APC RAF1 FOS ZIC1 SPOP CHRNG RPL35 TWIST2 TRMT10A RPL35A EMC1 LMX1B KDM1A CAVIN1 BRAF GATA1 ANKRD11 AGPAT2 SMC3 ACTB CBL TCOF1 FGD1 RAB18 MAP2K1 ALX1 XYLT2 CHST3 NELFA LRPPRC KREMEN1 GDF6 PTPN11 MID1 SIN3A SOS2 ADARB1 TSR2 ACTG1 EFNB1 UBE2A APC2 DPF2 AIFM1 TMCO1 NIPBL MAPK1 ALDOA PEPD SOS1 RPS27 ATP6V1B2 FGFR2 MAP2K2 SYT1 MEIS2 RAB3GAP2 SMARCB1 IRX5 TBX2 NRAS CTBP1 ZC4H2 TWIST1 CWC27 FRMD4A RPS20 HSPG2 RPL5 WNT4 DOCK6 CPOX MADD NFIX NANS PPP1CB PPP1R15B ZNF699 SPECC1L ADNP DOCK7 FGFR3 TFAP2A FGFRL1 MED13L DPM2 INTU RPS29 CPLX1 RPS10 KDM4B RPS26 GNE HUWE1 PEX6 INSR RPL26 SMARCC2 SVBP BRCA1 PIK3C2A CCNK CDH2 RRAS2 SMARCD1 COG5 PPARG RPS24 PIGG ARID1A CHN1 COG7 RAD21 TBL1XR1 SOX4 BICRA ARID2 RERE SLC9A7 B3GAT3 RPL27 POLR1D SLC35C1 SHOC2 THOC6 PGAP1 SH2B1 GDF11 SRCAP TCF12 NSD1 NOVA2 LETM1 ARID1B WBP11 SMARCE1 NOTCH2 IFIH1 AEBP1 STAG2 MAN2B1 PACS1 NBN POLR1B CCDC22 NSUN2 NEPRO RRAS LIG4 RPL15 SPRED1 RPS19 SETD2 MYH3 SMARCA4 BRD4 RPS7 MYO18B SMC1A ASXL1 ANKRD17 SALL4 PIK3CD WASHC5 BSCL2 PIGK PEX1 FRAS1 TBC1D24 SLC12A6 RPL11 SETD5 ABCC9 PHF8 UGP2 ARX ALG9 CREBBP TBX15 MRAS VPS33A TSC1 RPL31 KCNN3 GDF3 LZTR1 LRP2 NOTCH3 IGF1 RALGAPA1 ERMARD MAB21L1 CAV1 ALG12 PEX19 POLR1C TBC1D20 KCNH1 XRCC4 TAF6 RASA2 SRY VPS13B RAB3GAP1 EP300 EDEM3 NF1 RPS17 MAP3K7 SOX11 HS2ST1 HP_ABSENT_TIBIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_TIBIA LMBR1 ATP7A GLI3 PITX1 DYNC2H1 HP_SHORT_MIDDLE_PHALANX_OF_THE_2ND_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_MIDDLE_PHALANX_OF_THE_2ND_FINGER RUNX2 INTU GDF5 MYCN HOXD13 HP_ABNORMALITY_OF_THE_VESTIBULOCOCHLEAR_NERVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_VESTIBULOCOCHLEAR_NERVE HRAS NF2 PRKAR1A PRNP DKK1 KARS1 COCH HP_ASTROCYTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASTROCYTOMA APC POT1 NF1 IDH1 TP53 BRCA2 CDKN2A TSC2 CHEK2 SETD2 TSC1 APC2 NF2 MSH3 IDH2 MDM2 NSD1 PMS2 IFNG ERBB2 MLH1 MSH6 HP_RETINAL_HAMARTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_HAMARTOMA SDHA SDHD MAX TSC1 FH AKT1 SDHC TSC2 TMEM127 VHL SDHB SLC25A11 NF2 PTEN KIF1B RET SDHAF2 DLST CCND1 IFNG NF1 MDH2 HP_FLEXION_CONTRACTURE_OF_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLEXION_CONTRACTURE_OF_THUMB ECE1 L1CAM DLK1 BMP4 RTL1 MEG3 HP_APLASIA_HYPOPLASIA_OF_THE_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_THUMB PALB2 NSD2 RPS28 RB1 BRCA2 HOXA13 SALL4 NOG BICRA RPS15A CTBP1 HDAC8 RPL27 FANCI MAFB ADA2 SUFU TBX5 FIG4 KNSTRN SEMA3E RPL18 SLC26A2 RPL5 MYCN FGFR2 RECQL4 RTL1 FZD2 SLX4 MIR17HG FANCF FANCB BCOR CPLX1 LMNB2 SF3B4 RPL35 LETM1 BMPR1B RPL35A GDF5 FANCA KDM1A ZBTB16 DHODH GATA1 FANCC ACVR1 RPL11 NELFA UBE2T NSUN2 TP63 RPL15 FANCD2 DHCR7 SIN3A TSR2 RPS19 FGFR1 FGFR3 MGP BRD4 CANT1 RPS7 EIF4A3 PLXND1 RIPK4 ADAMTS10 SETBP1 NIPBL RPS27 PIK3CD CHD7 PSMD12 FGF10 PTCH2 BHLHA9 FRAS1 RSPO2 FLNA LMBR1 MAP3K7 IHH CUL3 ACAN SON TRIO LIG4 RPS20 WIPI2 LTBP2 PKDCC PCNT RPL31 SMC3 GNAS VAC14 ZNF699 RFWD3 MEG3 FANCE SMC1A TFAP2A FGFRL1 ESCO2 RPL26 RPS29 FANCL BRIP1 RPS10 RPS26 SHH VPS35L KCNH1 SVBP APC ATP6V1B2 RAD51C ERCC4 SRCAP REV3L CHST11 FBN1 RPS17 LRP4 DLK1 RPS24 PTCH1 COL2A1 PIGG CHN1 RAD21 HP_DEVIATION_OF_THE_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVIATION_OF_THE_THUMB HOXA13 NOG FLNA CDC42 LONP1 HDAC8 ZC4H2 FLNB ZIC3 ALG9 FANCB EFTUD2 GATA4 SMC1A SMC3 PTRH2 DHCR7 CRIPT ZNF462 TFAP2A ALG12 ESCO2 NIPBL ANKRD11 FGFR2 BMP4 TP63 BRCA1 SIN3A B3GLCT SLC26A2 MGAT2 RRAS2 BRD4 EIF4A3 CHSY1 SHMT2 RAD21 HP_DUPLICATION_OF_THE_DISTAL_PHALANX_OF_THE_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUPLICATION_OF_THE_DISTAL_PHALANX_OF_THE_THUMB KIF7 CANT1 BMPR1B GDF5 PAH PPP2R3C LMBR1 HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_THUMB PTCH2 FLNA CWF19L1 KCNH1 FGFR2 SUFU MAP3K7 FLNB IHH KNSTRN KIF7 GDF5 PAH CREBBP SLC26A2 SALL4 HOXD13 CANT1 GNAS GLI3 EP300 PPP2R3C CHSY1 LMBR1 BMPR1B GLI1 PIK3CD PTCH1 HP_ABNORMALITY_OF_THE_PROXIMAL_PHALANX_OF_THE_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PROXIMAL_PHALANX_OF_THE_THUMB RAB23 IHH CHSY1 FGFR3 PQBP1 FGF10 FGFR2 NONO BMPR1B HP_APLASIA_HYPOPLASIA_OF_THE_PROXIMAL_PHALANX_OF_THE_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_PROXIMAL_PHALANX_OF_THE_THUMB IHH FGFR3 FGF10 FGFR2 BMPR1B HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANX_OF_THE_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANX_OF_THE_THUMB SUFU PTCH2 MAP3K7 FLNA SALL4 KNSTRN PIK3CD PTCH1 GNAS BMPR1B HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_THUMB PTCH2 HOXA13 NOG HDAC8 FIG4 FANCI SUFU MAP3K7 IHH KNSTRN RTL1 TRIO FZD2 SALL4 PCNT SMC3 GNAS VAC14 BMPR1B MEG3 LMBR1 SMC1A FGFR3 FGFR2 CNOT1 FLNA VPS35L ACVR1 FGF10 KCNH1 GDF5 FANCD2 SETBP1 BRD4 CANT1 NIPBL SHH PIK3CD DLK1 PTCH1 RAD21 HP_PARTIAL_ABSENCE_OF_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARTIAL_ABSENCE_OF_THUMB LMBR1 SHH FANCD2 FGFR3 FIG4 FGF10 FGFR2 TRIO VAC14 HP_SHORT_PHALANX_OF_THE_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_PHALANX_OF_THE_THUMB PTCH2 FLNA HOXA13 NOG HDAC8 VPS35L ACVR1 FANCI FZD2 KCNH1 SUFU MAP3K7 IHH KNSTRN RTL1 GDF5 SALL4 SETBP1 PCNT BRD4 CANT1 SMC3 GNAS BMPR1B MEG3 NIPBL PIK3CD SMC1A DLK1 PTCH1 RAD21 HP_CARPAL_SYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARPAL_SYNOSTOSIS GDF5 FLNA SALL4 NOG HOXA13 FGFR2 SMOC1 EVC2 BMPR1B DYNC2LI1 EVC POR BHLHA9 ROR2 ESCO2 GLI1 MACROH2A1 B3GALT6 PITX1 MYH3 ATP7A PAX3 APC FLNB HOXD13 FGFR3 FBLN1 MAP3K7 CHSY1 NXN RBM8A RECQL4 LRP4 HP_CHILBLAINS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHILBLAINS ADAR RNASEH2C TREX1 SAMHD1 IFIH1 RNASEH2B RNASEH2A HP_ABNORMALITY_OF_THE_EPIDIDYMIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_EPIDIDYMIS SRCAP DHH BTK UNG NKX3-2 HNF1B CCND1 EP300 VHL PSMB8 CREBBP CLDN2 HP_PAPILLARY_CYSTADENOMA_OF_THE_EPIDIDYMIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAPILLARY_CYSTADENOMA_OF_THE_EPIDIDYMIS VHL HNF1B CREBBP CCND1 EP300 HP_HYPOMELANOTIC_MACULE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOMELANOTIC_MACULE TSC1 KRT14 KRT5 IFNG TSC2 POFUT1 HP_ADENOMA_SEBACEUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADENOMA_SEBACEUM PIK3CA MLH1 TSC1 SDHC MSH6 MSH2 SDHB USF3 SDHD AKT1 PTEN HRAS KRT17 IFNG MEN1 TSC2 NRAS PLCD1 KRAS KLLN SEC23B HP_SHAGREEN_PATCH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHAGREEN_PATCH TSC1 IFNG TSC2 PTEN SLC25A24 HP_DENTAL_ENAMEL_PITS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DENTAL_ENAMEL_PITS TSC1 DSPP ITGB4 DLX3 COL17A1 AMBN ITGB6 HP_ABNORMALITY_OF_THE_SUBUNGUAL_REGION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SUBUNGUAL_REGION TRPV3 KRT17 TSC1 COL7A1 IFNG TSC2 CARD14 MBTPS2 SLURP1 ATP2A2 HP_BLADDER_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLADDER_NEOPLASM DCC PIK3CA SRC HRAS AURKA RNF43 FGFR3 PTPRJ RAD54B ATP7A APC NTHL1 RB1 BUB1B CCND1 CHEK2 BAX FLCN PTEN DLC1 TP53 KRAS BUB1 MCC NRAS PLA2G2A PTPN12 CTNNB1 EP300 AKT1 MLH3 PDGFRL AXIN2 BRAF TLR2 HP_NEOPLASM_OF_STRIATED_MUSCLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_STRIATED_MUSCLE PTCH2 DICER1 NF1 HRAS PAX3 NBN KEAP1 NRAS BUB3 BUB1B BUB1 TP53 SUFU TSC2 CHEK2 TRIP13 FOXO1 PAX7 TSC1 PTCH1 CDKN2A CEP57 MDM2 MC1R IFNG MLH1 SLC22A18 SOX6 HP_CARDIAC_RHABDOMYOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIAC_RHABDOMYOMA SUFU PTCH2 TSC1 IFNG TSC2 PTCH1 SOX6 HP_CEREBRAL_HAMARTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_HAMARTOMA CPLANE1 TSC1 KIF7 GLI3 TSC2 TCTN3 SMO GCDH TMEM216 PDE6D VPS16 FAM149B1 OFD1 IFNG SOX2 KIAA0753 SIX6 HP_GLIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLIOMA NF1 APC POT1 BMPR1A MLH1 BRCA2 CHEK2 NBN SEMA4A PMS1 TSC1 CDKN2B KRAS RPS20 NF2 CDKN1B TSC2 RELA NSD1 FAN1 IDH1 PMS2 IFNG MSH6 ERBB2 ZFTA MSH2 PIK3CA TGFBR2 CDKN2C TP53 CDKN2A MEN1 CDKN1A SETD2 APC2 MLH3 SETBP1 MSH3 EPCAM IDH2 SMO MDM2 LRP5 HP_ABNORMALITY_OF_THE_ANTIHELIX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ANTIHELIX RAB3GAP2 SHH BICRA SIX3 RPL10 SALL1 PAX1 FGFR1 RECQL4 AP4E1 LIG4 EVC2 PGAP1 FLNA STIL GLI2 PIGN DISP1 EFTUD2 RBM10 EYA1 FGF8 WAC FGFR3 TRIO ZIC2 CREBBP XYLT2 POR NSUN2 TOR1A TWIST1 SLC16A2 KCTD1 RAB3GAP1 MGAT2 NUP188 KAT6A EVC FOXG1 STEEP1 FGFR2 AASS KAT6B HP_LARGE_EARLOBE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_EARLOBE PIGY BRAF OTUD5 BICRA DPYD FGD1 CDH11 PIK3CA PHF6 SMOC1 DHCR24 ELN SPEN MLXIPL UGDH SETBP1 HRAS NOTCH2 SLC26A2 EIF2S3 EFTUD2 DOCK7 VPS53 ZEB2 GJA1 HP_APLASIA_OF_THE_PECTORALIS_MAJOR_MUSCLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_PECTORALIS_MAJOR_MUSCLE TBX5 TBX3 PLXND1 REV3L MYMK HP_ANKYLOBLEPHARON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANKYLOBLEPHARON RIPK4 IRF6 ERCC3 ERCC4 BCOR NAA10 XPA ERCC2 FREM2 XPC RAX TP63 ERCC5 CHUK DDB2 HP_POPLITEAL_PTERYGIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POPLITEAL_PTERYGIUM IRF6 RIPK4 PITX1 BHLHA9 GPC6 CHRNG MYH3 CHUK HP_LIMB_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_PAIN MME KRT14 MATN3 COL1A1 KRT5 COL9A3 SMAD6 ACP5 TRAPPC2 FLI1 KRT6B ATL1 TGFB1 MT-ATP6 MFN2 COL9A1 CPOX FAR1 ATL3 HEPHL1 TONSL HMBS LMX1B PRKRA B2M COL2A1 COL9A2 NLRP12 MT-TK ALDH18A1 SPTLC2 ERLIN1 COL5A1 SLCO2A1 TREX1 COL5A2 RASA1 COMP FN1 KRT16 BSCL2 SPTLC1 KRT17 SPG7 VHL KRT6A HP_LOW_HANGING_COLUMELLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_HANGING_COLUMELLA ZNF148 ZMIZ1 BICRA THOC6 AFF3 AIMP2 PPP1R21 GJA1 CREBBP CAPN15 ZEB2 CDH11 RAC1 TBCD KDM3B MGAT2 SRCAP ASXL3 EP300 KAT6A EDEM3 UBE2A CTNNB1 PQBP1 HNRNPH2 TRIO CKAP2L ATN1 NOG ITCH HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_HAND SMARCA2 HOXA13 LONP1 HDAC8 MGP GNB2 KCNJ8 RBPJ KCNH1 LMBR1 PIGL SUFU EOGT KNSTRN MYCN TRIP11 DYNC2LI1 RTL1 SLC25A24 MIR17HG ROR2 RAB23 COMP MCTP2 BMPR1B ZNF41 CRIPT PIGV ARSL SLC9A7 GDF5 FGFR2 NOG ZNF81 RAB33B PTHLH FZD2 FRMPD4 PRKAR1A BMP2 AGTR2 PTCHD1 BMP4 ARX TRPV4 COG4 SLC26A2 NIN PDE3A IFT43 COL11A2 FTSJ1 PAK3 PTH1R PIGY NXN NIPBL GPC4 RECQL4 ARID1B CLCN7 GJA1 XYLT1 ATP6V1B2 BHLHA9 PIGN FIG4 MIA3 ACP5 EDA HOXD13 MAP3K7 CWC27 FGFR1 IHH ZBTB20 SYP HHAT SALL4 DLG3 NFIX PCNT PIGF DVL1 GNAS PIGS VAC14 MEG3 GPC3 SOX9 DVL3 SH3PXD2B MTOR WDR19 ZMPSTE24 LBR RUNX2 WDR35 IFT122 WNT5A PIGW KIF15 FLNB COL2A1 IGF2 CRKL SETBP1 DNMT3A HDAC4 BCR PDE4D FN1 KCNJ2 DMD RBM8A TRPS1 PTCH1 IFT52 ARID1A PGAP3 POC1A ACSL4 ZNF711 RAD21 CHUK IL11RA CNKSR2 DYM MID2 LIFR FANCI PIGB GMNN RAB3GAP2 INTU ARHGEF6 SOX11 EVC GGCX ACTL6B RAB39B PGAP2 GDI1 MEGF8 KDM5C RPS6KA3 MECOM EIF2AK3 NOTCH2 WNT7A KMT2D GLI1 ALG13 FLNA CNOT1 MECP2 USP27X CCDC22 ACVR1 NEPRO JAG1 FANCD2 PORCN SMARCE1 COL10A1 IFT140 BRD4 CANT1 EIF4A3 BGN TSPAN7 FBN1 MAPK1 DPYS PIK3CD SLC39A13 MED12 TFAP2B ALG6 PTCH2 FRAS1 TBC1D24 IQSEC2 ARHGAP31 NPR2 GPX4 ABCC9 STEEP1 PIEZO2 ADAMTS2 PIGO DLL4 GATA1 TBX3 EVC2 TRIO IL1RAPL1 KAT6B KMT2A RIPK4 STAMBP SMARCA4 KCNN3 DDR2 SMC3 IFT57 UPF3B PUF60 SMC1A TGFBR2 PHF6 USP9X FGFR3 NHS RBBP8 PCYT1A TP63 EXTL3 CLCN4 NOTCH1 KDM6A LMNA VPS35L CTSK FGF10 POR PTDSS1 DOCK6 CHST3 ANAPC1 HCFC1 EDA2R CHST11 SHH SMARCB1 DLK1 HP_SYMPHALANGISM_AFFECTING_THE_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYMPHALANGISM_AFFECTING_THE_PHALANGES_OF_THE_HAND BHLHA9 TFAP2B NOG PTDSS1 GDF5 NONO IHH MYH3 FGFR2 CHSY1 CHRNG SLC26A2 FGF9 HOXD13 BMPR1B MYH8 PQBP1 HP_TRIANGULAR_SHAPED_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRIANGULAR_SHAPED_PHALANGES_OF_THE_HAND NXN MYT1L RPS28 LMBR1 KMT2E HOXA13 SALL4 CCDC32 GPC4 RPS15A HDAC8 MAFB BCOR KCNH1 ADA2 NUP107 SUFU FLNB KNSTRN KIF7 RPL18 MYCN RTL1 GLI3 DLX5 ROR2 RAB23 NTNG1 EXOSC2 GNAS GATA4 SF3B4 RPL35 INPPL1 BMPR1B WDFY3 OTUD6B RPL35A FANCA FGFR2 GATA1 ACTB FANCC SLX4 FZD2 CHST3 SLC12A2 RBM8A BMP2 TSR2 ACTG1 NOG SUMF1 GRIA4 SLC26A2 FGFR3 PRKD1 EZH2 EED SHMT2 ACTL6B NIPBL KCNMA1 RPS27 EP300 RFWD3 XYLT1 GDF5 ERCC4 MSX2 ATP6V1B2 MEIS2 BHLHA9 HUWE1 XRCC2 FIG4 HS2ST1 SATB2 SALL1 BPTF MAP3K7 FGFR1 IHH PUS7 PTPN23 RPS20 UBR7 RPL5 PCNT SMO PIGF DVL1 VAC14 MEG3 GPC3 ADNP GLI1 MED12 DVL3 PQBP1 GJA5 RPS29 RLIM RUNX2 RPS10 RPS26 SHH MEGF8 ACTL6A MAPK8IP3 WNT5A HPDL RPL26 KIF15 PUF60 UBE2T PAH BCORL1 PTEN KDM4B SETBP1 RAD51 PSMD12 FGF9 FLNA AGO2 RPS24 PTCH1 COL2A1 CHN1 RAD21 MAD2L2 PALS1 JARID2 USP9X BICRA B3GAT3 RPL27 FANCI CWF19L1 PIGB SMOC1 TBX5 INTU ZMIZ1 BRCA2 SNIP1 FANCE WASF1 HOXD13 CHSY1 ACAN CNOT1 GJA8 ACVR1 RPL11 TRIP12 CREBBP NONO NSUN2 SVBP TANC2 RPL15 FANCD2 RPS19 MED27 FANCL BRD4 CANT1 RPS7 ALX4 CNOT3 PIK3CD DACT1 TCF20 PYCR2 FGF10 PTCH2 TBC1D24 KAT8 FANCB DPYSL5 SUZ12 PACS1 DDX6 TRIO LIG4 MED13 RPL31 KCNN3 DDR2 SMC3 NTNG2 NAA10 SIAH1 SMC1A ESCO2 TP63 DOCK3 BMPR1A FANCF VPS35L NSD1 HTT FANCG TWIST1 TNRC6B TRMT1 PPP2R3C BRCA1 TRAPPC4 RPS17 BRIP1 SATB1 FBXW11 G6PC3 DLK1 FANCM PALB2 MADD RAD51C HP_AMNIOTIC_CONSTRICTION_RING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMNIOTIC_CONSTRICTION_RING GLE1 LORICRIN POMP FERMT1 GJB2 SMARCAD1 HP_ABSENT_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_THUMB SF3B4 RSPO2 RPS28 RPL11 RPS15A FIG4 RPL27 FANCI ADA2 TBX5 CUL3 RPL18 SON RPS20 SLX4 RPL5 FANCF FANCB RIPK4 RPL31 VAC14 RPL35 FGFR2 RFWD3 FANCE SALL4 RPL35A FANCA RPL26 RPS29 ZBTB16 FANCL RPS10 RPS19 GATA1 RPS26 FANCC RPL15 FANCD2 TSR2 RAD51C ERCC4 FGFR3 RPS7 RPS17 RECQL4 RPS27 RPS24 PSMD12 FGF10 HP_SHORT_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_THUMB PALB2 NSD2 RPS28 BRCA2 HOXA13 SALL4 NOG BICRA RPS15A CTBP1 HDAC8 RPL27 FANCI ADA2 SUFU KNSTRN SEMA3E RPL18 SLC26A2 RPL5 MYCN RECQL4 RTL1 FZD2 SLX4 MIR17HG FANCF BCOR CPLX1 LMNB2 RPL35 LETM1 BMPR1B RPL35A GDF5 FANCA KDM1A DHODH GATA1 FANCC ACVR1 RPL11 NELFA UBE2T RPL15 FANCD2 DHCR7 SIN3A TSR2 RPS19 FGFR3 MGP BRD4 CANT1 RPS7 EIF4A3 ADAMTS10 SETBP1 NIPBL RPS27 PIK3CD CHD7 PSMD12 FGF10 PTCH2 FLNA MAP3K7 IHH ACAN RPS20 WIPI2 LTBP2 PKDCC PCNT RIPK4 BHLHA9 RPL31 SMC3 GNAS ZNF699 FGFR2 MEG3 FANCE SMC1A TFAP2A FGFRL1 RPS29 BRIP1 RPS10 RPS26 VPS35L KCNH1 RPL26 SVBP APC ATP6V1B2 RAD51C SRCAP CHST11 FBN1 RPS17 LRP4 DLK1 RPS24 PTCH1 COL2A1 PIGG RAD21 HP_PERIANAL_ABSCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIANAL_ABSCESS CYBC1 IL10RA TGFB1 IKZF3 RIPK1 IL10RB ELANE MNX1 HP_TERATOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TERATOMA SETBP1 MNX1 MSH3 SETD2 FGFR3 APC2 STK11 BCL10 NSD1 KIT HP_BRANCHIAL_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRANCHIAL_ANOMALY RPL10 SHH SIX1 EYA1 ZIC2 SIX5 POLR1C TCOF1 SIX3 POLR1D FGFR1 HNRNPK DISP1 POLR1B CRKL STIL BCR GLI2 FGF8 MAPK1 PUF60 WAC TFAP2A HP_BRANCHIAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRANCHIAL_FISTULA CRKL EYA1 SIX1 BCR POLR1C TCOF1 POLR1D MAPK1 POLR1B HP_BRANCHIAL_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRANCHIAL_CYST PUF60 SIX1 RPL10 EYA1 SIX5 HP_SUPERNUMERARY_SPLEENS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPERNUMERARY_SPLEENS SPEF2 TMEM107 NPHP3 TMEM216 GPC4 RAB23 CTBP1 DNAI2 CCDC39 GDF1 CFAP221 WT1 DNAH1 MKS1 TMEM231 CDON ODAD2 RSPH4A DNAAF6 MYCN DNAAF2 ESCO2 ODAD3 ATP6AP1 DNAH9 RSPH9 CC2D2A WDR35 TCTN3 MMP21 MCIDAS DNAH11 LETM1 RFWD3 DNAAF3 GPC3 NSD2 CCDC40 CCDC103 YARS1 RPGRIP1 RPGRIP1L FGFRL1 DNAAF4 TTC12 CPLX1 ZIC3 TMEM67 MYRF DNAAF1 GAS8 CENPF DNAJB13 TCTN1 MEGF8 B9D1 CFAP300 B9D2 RSPH1 DNAAF5 CCNO DRC1 CCDC65 CSPP1 FOXJ1 OFD1 SPAG1 CFC1 EXOC2 ZMYND10 TCTN2 DNAI1 NME8 NEK10 ODAD1 DNAH5 ODAD4 RPGR RSPH3 TXNDC15 DNAAF11 CFAP298 LRRC56 HYDIN DNAL1 HYLS1 STK36 TMEM237 GAS2L2 CEP290 HP_MATERNAL_DIABETES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MATERNAL_DIABETES PPARG GDF1 PROKR2 NKX2-5 ZIC2 ARNT2 CLCNKB FCGR3B NODAL OTX2 TDGF1 CDON SOX2 PLAGL1 MTHFR FUZ VANGL2 MED13L SIX3 SOX3 KCNJ11 FGFR1 ABCC8 DLL1 TGIF1 HNF1A HYMAI FOXH1 DISP1 VANGL1 PTCH1 SLC12A3 ZFP57 GLI2 COL2A1 FGF8 GAS1 HESX1 SUFU SHH GJA1 HP_APLASIA_OF_THE_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_PHALANGES_OF_THE_HAND GJA1 FIG4 FGF10 VAC14 MEGF8 LMBR1 SHH FANCD2 LMNA FGFR3 FGFR2 TRIO BMPR1B HP_NEPHROGENIC_DIABETES_INSIPIDUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEPHROGENIC_DIABETES_INSIPIDUS AQP2 BBS1 CCDC28B VPS33B AVPR2 ARL6 VIPAS39 HP_ABNORMALITY_OF_UPPER_LIMB_METAPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_UPPER_LIMB_METAPHYSIS MMP13 MMP9 RECQL4 COL2A1 TRPV4 NDN EZH2 STX16 TRAPPC2 SNRPN ANAPC1 GNAS PHEX COMP COL10A1 RPL13 MAGEL2 HP_ABNORMALITY_OF_UPPER_LIMB_JOINT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_UPPER_LIMB_JOINT SHOX ERCC2 ATR ATP7A LMBR1 A2ML1 HOXA13 COL1A1 RTL1 GTF2I HDAC8 B3GALT6 IRF5 COLEC10 GNB2 LFNG ALX3 SH3PXD2B KRAS FBN1 TBC1D2B COL12A1 TPM3 TRPV4 KIF5A CLCN5 TRIP11 RAB23 SVIL TPM2 CAV1 COL2A1 MMP23B OBSL1 MBTPS2 FGFR3 ANTXR2 DHCR24 SMOC1 NOG MATN3 BRAF CBL SPEN GALNS FZD2 MAP2K1 DMP1 PRKAR1A SOS2 MYH3 FLNB EFNB1 OCRL NIN PITX1 MECP2 PTH1R EZH2 ERCC1 GJA1 CSGALNACT1 NXN CHST3 SFRP4 TBL2 GPC4 TUBB3 SOS1 MEGF10 PYCR1 MAP2K2 DYSF BHLHA9 MIR140 CLCF1 RAC3 WDR4 AKT1 HACD1 CANT1 RNU4ATAC COL11A1 NRAS EMD FGFR2 TBX15 HOXD13 RERE PRKCZ SLC35A2 CYP27B1 PYROXD1 HSPG2 ALDH18A1 PORCN MAFB NALCN EMG1 PEX5 SIK3 ERGIC1 WNT4 RSPRY1 STXBP1 NANS CTCF ROR2 MEG3 GPC3 UNC80 ZIC1 CDT1 MED12 NOD2 PQBP1 FGFRL1 LMNA CPLX1 ZDHHC9 NCF1 POP1 FDFT1 ASXL1 BMPR1B DNAJC30 GMNN MYOD1 OSGEP MYLPF CNTN1 COL9A3 PIK3C2A FGF16 SLC26A2 RRAS2 SRCAP SETBP1 AEBP1 BCR COL5A2 DHODH MMP2 COG5 TP53RK POR CD96 COL6A3 BCL7B CCN2 OPA3 PTPN11 EVC2 RAD21 ENPP1 PSTPIP1 RECQL4 ITGA7 CYP2R1 LMX1B BICRA COLQ B3GAT3 TMEM70 SMAD6 DONSON TP63 CAPN3 SELENON DVL1 GNE ORC1 FAT4 DYRK1A KDM5C CHSY1 SIL1 ORC4 MECOM GSC SHOC2 LAMA3 ELN KIF22 EIF2AK3 GDF5 ANO5 HEPHL1 COL7A1 NIPBL GLI1 EIF4H RAF1 FLNA ITGB4 HRAS NUP107 VPS13B COL9A2 MMP13 NEFL PTPN22 HOXA11 NONO RRAS TOR1A FHL1 SLC34A3 SETD2 TBX5 UBE4B BPTF IDUA ECEL1 BRD4 BUD23 DHX16 EVC DLK1 SLC39A13 SCARF2 PSMB8 PIEZO2 PPP1CB CLDN3 TFAP2B SLC39A8 LGI4 PTPN2 PTDSS1 ABCC6 NPR2 COL17A1 RPL10 COL6A1 FBN2 PLEKHG5 TBX3 CREBBP CCN6 POLR3GL SMG9 KAT6B GPKOW ERLIN2 FERMT1 DDR2 SMC1A NUP133 AUTS2 TGFBR2 NAA10 B4GALT7 SLC29A3 STAG1 TONSL MACROH2A1 EXTL3 SKI RPL26 ADAT3 CPT2 ESCO2 RAPSN TBR1 PHGDH CHRNG PLOD2 KCNK9 KIDINS220 FGF9 B3GLCT SRY FGD1 MAP3K7 CUL7 COL11A2 LAMB2 PMP22 LZTR1 EP300 TWIST2 TMEM270 GHR NF1 COL6A2 GLE1 PDPN PAX3 HS2ST1 EXT2 TENT5A SALL4 LONP1 WDR73 NLRP3 RIT1 BCOR SLC25A46 TRAPPC2 FLVCR1 GTF2IRD1 RIPPLY2 SLC35A3 PEX1 DYNC2LI1 GLI3 KMT2A DYM NUP88 FBXW11 NSD2 EXOC6B PIGV RTTN IFITM5 FKBP10 ITCH IDS MYL2 MESP2 SMC3 TNNT3 ALX1 WNT5A FKTN BMP4 TMEM43 FBLN1 APC2 TPRKB TCF12 MASP1 METTL27 TGFBR1 MAPK1 LAMA2 CDC6 ARID1B XYLT1 COMP SMARCAD1 SLC6A9 LIFR CUL4B MUSK GLB1 LARS2 DLL3 MORC2 ACTA1 SLC34A2 SPRTN ANKRD55 FGFR1 IHH MAF COLEC11 IGHMBP2 PTEN CYP26B1 AMER1 P4HTM MYBPC1 SLC10A7 PCNT PLOD1 ERCC6 ZMPSTE24 ECE1 ADAMTS3 TFAP2A TBX22 LUZP1 TGDS IKBKG SYNE2 AFF3 SHH PEX6 RFC2 UFSP2 TWIST1 LAGE3 ACTG2 APC EBP PIGL CRKL HINT1 GTF2H5 NOTCH2 PSMD12 RBM8A TNNI2 MED25 LRP4 CYP27A1 CD247 TGFB3 LAMC2 ADAMTSL2 PRG4 KDELR2 CTBP1 GNPTAB L1CAM SLC18A3 CLIP2 HLA-DRB1 UPF3B RMRP ABHD11 KIAA0319L GPC6 MYOT GJB2 SLC35D1 DOK7 NSD1 LETM1 SYNE1 IL2RB IL2RA BMP1 MYH7 CCBE1 CRLF1 ALG3 LAT2 C19orf12 STX1A KCNAB2 VDR KY CCDC8 ASXL3 SNRPB HES7 COL5A1 MLXIPL BGN TRPS1 IL6ST XRCC2 LIMK1 PEX2 CDC45 MMP14 UBA1 SF3B4 PIGY BAZ1B SUZ12 POLR3A DVL3 MRAS EXT1 CCR6 COL9A1 CASZ1 PRDM16 PTRH2 UROS LARGE1 WNT7A GTF2IRD2 ALG12 COL27A1 STAT4 ERCC5 CDH3 AIFM1 SMAD3 FKBP6 SRD5A3 CLDN4 RASA2 ANAPC1 MBTPS1 VPS37D CTDP1 RAB3GAP1 MAP3K20 ASAH1 PLOD3 LAMB3 PPP2R3C TCTN3 ORC6 EED GABRD HP_ABNORMALITY_OF_THE_ELBOW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ELBOW SHOX ATR TENT5A ERLIN2 COL1A1 HDAC8 GNB2 GDF5 SLC25A46 KRAS TRAPPC2 FBN1 COL12A1 FLNB TPM3 POR B3GALT6 PEX1 DYNC2LI1 ESCO2 KMT2A DYM SVIL BCOR OBSL1 EXOC6B COL6A2 IFITM5 FGFR3 FKBP10 ITCH LMX1B FGFR2 MYL2 BRAF SMC3 MYH3 EXTL3 GALNS FZD2 MAP2K1 LMNA CHST3 PRKAR1A PTPN11 WNT5A TMEM43 TRPV4 PITX1 EZH2 CSGALNACT1 NXN SFRP4 NIPBL MAPK1 TUBB3 LAMA2 RECQL4 CDC6 ARID1B COMP PYCR1 NOG MAP2K2 SLC6A9 DYSF LIFR CUL4B MIR140 MUSK CLCF1 FLNA HACD1 RNU4ATAC LARS2 COL9A3 ACTA1 EMD TBX15 MAP3K7 SPRTN FGFR1 HSPG2 COLEC11 ALDH18A1 MATN3 CYP26B1 PEX5 SIK3 P4HTM ERGIC1 WNT4 PCNT COLEC10 RSPRY1 PLOD1 STXBP1 ROR2 UNC80 CDT1 TFAP2A DONSON TPM2 SYNE2 AFF3 ATP7A POP1 FDFT1 ASXL1 ORC1 APC GMNN MYLPF PIK3C2A SLC26A2 COL7A1 SRCAP AEBP1 COL5A2 NOTCH2 PSMD12 CD96 COL6A3 OPA3 LRP4 CYP27A1 COL2A1 RAD21 PSTPIP1 ITGA7 PTH1R KDELR2 ENPP1 B3GAT3 SMAD6 SMOC1 TBX5 CAPN3 SHOC2 SELENON DVL1 EVC RMRP GPC6 MYOT SIL1 GJB2 ORC4 GSC SYNE1 KIF22 KDM5C MECOM ANO5 HEPHL1 BMP1 GLI1 RAF1 HRAS VPS13B MBTPS2 NUP107 COL9A2 MMP13 SOS1 GJA1 DDR2 KY CCDC8 TOR1A FHL1 SNRPB MASP1 BPTF COL5A1 IDUA ECEL1 BRD4 HOXA11 BGN SLC39A13 SCARF2 PSMB8 PPP1CB SLC39A8 PEX2 CDC45 UBA1 SF3B4 LGI4 PIGY PTDSS1 XYLT1 ABCC6 NPR2 NALCN COL6A1 EVC2 DVL3 CREBBP CCN6 COL9A1 FBN2 SMC1A B4GALT7 LARGE1 SALL4 WNT7A MED12 SLC29A3 STAG1 COL27A1 TONSL MACROH2A1 SKI CPT2 ERCC1 CANT1 CHRNG PLOD2 CRLF1 SRD5A3 KCNK9 ERCC6 FGF9 B3GLCT SRY MAP3K20 CBL CUL7 LZTR1 ASAH1 PLOD3 EP300 PPP2R3C ORC6 GHR NF1 GLE1 HS2ST1 HP_APLASIA_HYPOPLASIA_OF_THE_EXTREMITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_EXTREMITIES ATR ATP7A RNU4ATAC LMBR1 DYNC2LI1 TRPS1 CCDC32 KIAA0586 SATB1 MGP CCDC47 SUFU HERC2 IFNGR1 MMP13 TRPV4 KMT2D TRIP11 DPM1 FANCB STX16 DDRGK1 MIR17HG WDR19 RAB23 GNAS TPM2 OBSL1 WDFY3 SMAD4 MRPS28 ARSL RPS6KA3 DHCR24 SMOC1 MATN3 TBX4 GATA1 SPEN B9D1 RBM8A FLNB ACVR1 SIN3A NOG COG4 NIN MMP9 POU1F1 BMPR1B PLXND1 GJA1 KCNA1 CSGALNACT1 NXN ADAMTS10 KCNMA1 TUBB3 RPS27 DYNC2H1 ERCC4 CRTAP BHLHA9 MIR140 NGLY1 CANT1 CREB3L1 HUWE1 PIGN FIG4 COL11A1 KCNJ2 CTBP1 HOXD13 USP7 PRKCZ CDKL5 PLAG1 GLI3 DOLK SYP SUCLG1 NDN FAT4 SIK3 SALL4 DLG3 ARCN1 RSPRY1 FGFR2 GHR RMRP STXBP1 NANS GPC4 BTRC VAC14 ZNF699 RFWD3 ROR2 ZSWIM6 MEG3 GPC3 CDT1 PEX7 MAPK8IP3 MTOR DYNC2I1 SIK1 WNT10B RPS29 RPS10 POP1 CERT1 KIF15 TCTN3 PUM1 PITX1 GDF5 ATP6V1B2 COL9A3 PIK3C2A DPH1 SETBP1 DNMT3A FBN1 SNRPN CFAP410 DHODH PPIB FGF9 CD96 UBE2A FLNA RPS24 PTCH1 FTSJ1 CHN1 ACSL4 ZNF711 ADNP CHUK CNKSR2 JARID2 TBL1XR1 MID2 RECQL4 DMXL2 BICRA ARID2 B3GAT3 SLC35C1 PIGB RAB3GAP2 DONSON PDE4D FGFR3 MAPRE2 ZMIZ1 DVL1 BRCA2 C12orf57 YY1AP1 COG1 FBXL4 KDM5C CDC45 WDR35 CHSY1 CDK10 PGAP2 SIL1 WDR81 ORC4 GSC KIF22 ARID1B MAGEL2 TBCE HEPHL1 GLI1 ACAN FN1 LMX1B GLUL HMGA2 USP27X NEK1 JAG1 SVBP SMARCA2 AFF4 TANC2 NHS MED27 TBX5 BPTF COL10A1 BRD4 HOXA13 RUNX2 KAT6A HTT RAI1 HHAT SNORD116-1 SLC39A13 DACT1 MED12 SLC39A8 NPR2 PTDSS1 IGF1R COL1A2 RBPJ HSPG2 PHGDH DLL4 SLC26A2 TBX15 KAT6B FERMT1 TCF4 DDR2 SMC1A PWRN1 PIGO FANCE SATB2 PHF6 MECP2 USP9X FKBP10 MKRN3 TP63 DOCK3 PWAR1 MACROH2A1 EXTL3 RPL26 P3H1 CLCN4 NOTCH1 LMNA KIFBP FGF10 KCNH1 EPS15L1 KLHL15 RTL1 CEP57 BRCA1 PDPN LTBP3 KYNU RAD51C CEP120 RPS28 SIM1 RPL10 BMP2 PIGL TRAPPC2 SLCO2A1 POLR3A RPL18 HYLS1 SLC25A24 ESCO2 GABBR2 KMT2A IFT80 BCOR COMP SERPINH1 ZNF41 PIGQ FANCA KDM1A ZNF81 SMC3 FGD1 TNNT3 TELO2 SLX4 LHX4 CHST3 NELFA PRKACA BMP4 PRKAR1A IFT43 PAK3 MBD5 COL2A1 MASP1 COL1A1 PTH1R SMO EVC TMEM67 EZH2 CDC6 MAP3K7 KIF7 PSMD12 MYSM1 SHOX CUL4B LMNB2 RAG1 HS2ST1 ACP5 EDA CWC27 FGFR1 CUL3 ZBTB20 PUS7 SON LTBP2 SLC10A7 PIGS HESX1 SPECC1L SH3PXD2B TFAP2A RAG2 EN1 LUZP1 BRIP1 RLIM KDM4B IKBKG RPS26 OCA2 DPYD ACTL6A DCHS1 WNT5A PIGW KCNJ5 UBE2T B3GLCT EBP IGF2 DLX5 CRKL RAD51 FMR1 IFT122 ALG12 ORC6 CHRNG COL3A1 INPPL1 IFT140 SLC25A22 PIGG ARID1A PAPSS2 PALB2 PRKACB ALOX12B ARHGEF6 RPL5 ZMPSTE24 GGCX SCN2A SCUBE3 MEGF8 PIGT KDM6A LETM1 NTNG1 NEUROD2 SMARCE1 WAC FANCI CCBE1 MBTPS2 PHYH CCDC22 TTC21B TRIP12 CCDC8 NEPRO FANCD2 SNRPB RPS19 PCYT1A SMARCA4 FANCL ABCA12 LAS1L BGN BPNT2 RIPK4 NALCN ASXL1 MAPK1 EVC2 ALG6 PIGY RPL11 XYLT1 CLTCL1 ABCC9 DPYSL5 STEEP1 GNPTAB IFT172 IHH DDX6 ALG9 TRIO MED13 IL1RAPL1 WIPI2 EXT1 STAMBP KCNN3 GALNT2 IFT57 CSPP1 TAPT1 RBBP8 DYRK1A LZTFL1 ADA POR CHD4 HDAC6 IDUA DOCK6 ANAPC1 GRIP1 PCNT EDA2R GPC6 PPP2R3C CHST11 TWIST1 SHH SF3B4 ALPL WNT7A KMT2E SLC35D1 HDAC8 GNB2 KCNJ8 ADA2 AGPS PDHA1 ARL6 MYCN AMMECR1 MMP23B RSPO2 MCTP2 MET CRIPT UBR7 GPX4 SLC9A7 ANTXR2 SOX9 DCLRE1C RAB33B FAM20C PTHLH FZD2 FRMPD4 DLK1 CDKN1C PTCHD1 KIAA0753 WASF1 ARX GRIA4 COL11A2 PPM1D POLE AIFM1 GNPAT ACTL6B PIGP KRAS LRP4 MEIS2 FBXO11 IL7R MIA3 RERE SLC35A2 PTPN23 CASK RPS20 BBS1 NFIX B2M LHX3 ALMS1 UNC80 DVL3 MYH3 EXT2 FGFRL1 CPLX1 LBR HPDL SMARCC2 GNAS-AS1 PUF60 GMNN MAB21L2 SALL1 BCORL1 SRCAP HDAC4 BCR DMD AGO2 IFT52 POC1A RAD21 CCNQ DYM RPL27 CAMK2G TRIM8 INTU SOX11 ORC1 RAB39B DYNC1H1 EFNB1 GDI1 MECOM EIF2AK3 NOTCH2 NIPBL ALG13 CUL7 NSDHL ZBTB16 PNKP VPS13B COL9A2 NSUN2 RPL15 DHCR7 UBE4B PORCN KIF5C CNOT3 TGFB1 PIK3CD SCARF2 TCF20 TFAP2B PTCH2 TBC1D24 PIK3R1 ARL6IP6 IQSEC2 KAT8 NKX2-6 ALOXE3 ALDH18A1 TBX3 CCN6 SHROOM4 TBCK XRCC4 RPL31 IDH2 UPF3B RBM10 WNT3 TONSL SEM1 FANCF CHRNA1 HPGD CTSK PEX5 PAM16 SRY KNSTRN LIG4 INPP5K REV3L TRMT1 TRAPPC4 RPS17 FBXW11 CTC1 CILK1 MADD NSD2 GAD1 TENT5A MYT1L RPS15A LONP1 CDH11 MAFB EOGT IDH1 OFD1 RPL35 PIGV ACTB RPL35A EXOC6B FBXL3 FANCC SCN1B SLC12A2 AGTR2 CCDC28B TSR2 RAC1 PDE3A DYNC2I2 PSAT1 SPART DPF2 CNOT2 CLCN7 CHD7 LIFR SMARCB1 IRX5 GNAO1 XRCC2 PROP1 PLCB3 AMER1 PKDCC PIGF CTNND2 CHRND AFF3 HBA2 MSL3 APC HINT1 SMARCD1 PRMT7 SEMA5A PGAP3 MAD2L2 PALS1 ADAMTSL2 RB1 SOX4 KDELR2 TWIST2 SEMA3E WRN ZIC3 SNIP1 PCGF2 DLX6 FAM50A TRAF3IP1 TBX22 FUT8 KCNAB2 B3GALT6 RPS7 EIF4A3 TSPAN7 IL2RG NBAS SKI TRRAP MTX2 FRAS1 ARHGAP31 RNF2 ADAMTS2 CENPE COL9A1 CASZ1 PRDM16 NTNG2 HBA1 TNNI2 FLI1 VPS35L CRLF1 NPAP1 FANCG SLC6A17 HCFC1 COX4I1 TNRC6B ASAH1 GABRD IFT81 SNORD115-1 FANCM HP_LOWER_LIMB_UNDERGROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_UNDERGROWTH SHOX EXT1 ARL6IP6 NOG FN1 PPIB CHUK MMP13 COL2A1 ALPL SLC26A2 PAPSS2 EXT2 HP_APLASIA_INVOLVING_BONES_OF_THE_LOWER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_INVOLVING_BONES_OF_THE_LOWER_LIMBS ATP7A KCNN3 FIG4 DYNC2H1 VAC14 BMPR1B LMBR1 GDF5 GLI3 PITX1 LMNA HP_UPPER_LIMB_UNDERGROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_LIMB_UNDERGROWTH CCNQ SHOX ATR SALL4 FANCI MAFB TBX5 DONSON PDE4D SEMA3E SLC26A2 BRCA2 RTL1 FANCE SLX4 FANCF TBX3 SF3B4 PIGT OBSL1 EXOC6B GDF5 WNT7A NIPBL ZBTB16 COL2A1 DHODH CCDC8 JAG1 FANCA AFF4 PRKAR1A BPTF FGFR3 FANCL EIF4A3 LBR RFWD3 RECQL4 SCARF2 ERCC4 HYLS1 LRP4 CHD7 FGF10 NPR2 XRCC2 FANCB IHH EXT1 B2M FGFR2 MEG3 RBM10 ESCO2 BMPR1B RPL26 RPS19 VPS35L DPM1 FANCC DYNC2H1 TRIP11 APC CHST3 UBE2T FANCG RAD51C RAD51 CUL7 FN1 ALG12 BRCA1 PSMD12 CHUK BRIP1 FANCD2 DLK1 IFT81 FANCM PALB2 CHN1 MAD2L2 EXT2 HP_APLASIA_INVOLVING_BONES_OF_THE_EXTREMITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_INVOLVING_BONES_OF_THE_EXTREMITIES ATP7A FIG4 FGF10 DYNC2H1 BMPR1B LMBR1 GLI3 PITX1 FANCD2 LMNA TRIO GJA1 KCNN3 VAC14 MEGF8 GDF5 SHH FGFR3 FGFR2 HP_LIMB_UNDERGROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_UNDERGROWTH NXN SHOX ATR GAD1 CEP120 TENT5A DYNC2LI1 SALL4 KIAA0586 SLC35D1 HDAC8 MAFB AGPS FLNB MMP13 TRPV4 TRIP11 PDHA1 DPM1 INPPL1 HYLS1 BMPR1B RTL1 IDH1 DDRGK1 ROR2 EBP WDR19 KMT2A DYM TBX3 IFT80 SF3B4 SERPINH1 OBSL1 ACTB EXOC6B GPX4 GDF5 FGFR3 ANTXR2 DHCR24 DYNC2I1 ACAN DHODH GLI3 FAM20C SLX4 FZD2 CHST3 B9D1 PRKACA CDKN1C WNT5A COL2A1 RAC1 PRKAR1A SLC26A2 NIN IFT43 DYNC2I2 PSAT1 POLE COL1A1 PTH1R GNPAT SMO LBR CSGALNACT1 NIPBL RFWD3 RECQL4 DYNC2H1 COL10A1 COL11A1 ERCC4 CRTAP LRP4 KIF7 CHD7 MYSM1 LIFR MIR140 FGFR1 NGLY1 CREB3L1 XRCC2 COL9A3 ACP5 COG1 TBX15 IHH HSPG2 MATN3 HHAT PLCB3 SIK3 PKDCC B2M DVL1 ARCN1 GHR RMRP NEK1 ZNF699 FGFR2 MEG3 PEX7 DVL3 MTOR RBM10 DONSON HDAC6 WDR35 IFT122 AFF3 DPYD COMP LONP1 FANCC COL11A2 KIF15 APC UBE2T B3GLCT MAB21L2 RAD51 CFAP410 FN1 ALG12 PPIB PSMD12 CHUK CD96 IFT140 IFT52 CHN1 RAD21 MAD2L2 PAPSS2 CCNQ KDELR2 B3GAT3 PRKACB FANCI TBX5 SLC35C1 PDE4D SEMA3E BRCA2 EVC FANCE FANCF GPC6 EFNB1 GSC PIGT WNT7A GLI1 FUT8 FLNA ZBTB16 GLUL MBTPS2 COL9A2 TTC21B CCDC8 JAG1 FANCA AFF4 DHCR7 PCYT1A BPTF FANCL BRD4 EIF4A3 ASXL1 SCARF2 NBAS SLC39A8 NPR2 FGF10 PIGY ARL6IP6 CLTCL1 FANCB COL1A2 IFT172 ADAMTS2 PHGDH EVC2 ALG9 RNU4ATAC TBCK EXT1 XRCC4 COL9A1 NOG RIPK4 DDR2 SMC3 IDH2 PUF60 CSPP1 TAPT1 SMC1A ESCO2 TONSL EXTL3 RPL26 RPS19 VPS35L PAM16 FANCG RAD51C CUL7 PCNT CEP57 BRCA1 TCTN3 BRIP1 FANCD2 LTBP3 DLK1 IFT81 KYNU ALPL FANCM PALB2 CILK1 EXT2 HP_PHOCOMELIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHOCOMELIA TBX5 RBM8A LMBR1 ESCO2 NIPBL SF3B4 WNT7A HP_PERIPHERAL_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_NEUROPATHY KLC2 ERCC2 MME MRE11 OPA1 MPV17 GBE1 SURF1 HDAC8 IARS2 PDYN PDK3 HLA-DPA1 ATP7B SLC18A3 TTR KIF5A PTPN22 MT-ND6 DPM1 RAB3GAP1 EGR2 ATXN3 NEFL SELENOI GALC AGXT LDB3 GNAS CCT5 HARS1 SPG11 PMP22 IDUA ERCC8 VPS41 SLC25A19 ABCC8 HMBS SPTBN1 TBCE VCP HFE BRAF FGF14 PRPS1 COX6A1 NDUFS2 HINT1 MT-TS2 P4HA2 SGPL1 MTRFR ZFYVE26 IFRD1 PSAP MT-ND1 IFIH1 SPTLC2 MFN2 SAMHD1 MYO9A POLG2 MT-ND4 SOX10 MT-ATP6 ERCC1 POLG SH3TC2 HADHA MPZ TDP1 TWNK KCNJ11 SLC46A1 ERCC3 NF1 SLC25A46 MT-ND2 CLCF1 NGLY1 ABCA1 GAN KIF1B MANBA MT-CO3 DARS2 ALDH18A1 TOP3A TTBK2 GARS1 CYP7B1 DMXL2 FMR1 AP5Z1 CACNA1A CPOX SYNE1 SLC5A7 ARSB COL13A1 AHCY TACO1 AFG3L2 LIPT1 ZFR SLC19A3 HLA-DRB1 MYD88 TFG WARS1 FA2H ELOVL5 HSPB1 ERCC4 ELOVL4 CLP1 INSR PHF6 CRAT KIF1A PPOX GSN MORC2 SYT2 ERLIN2 TRPV4 RRM2B MT-TW NAGA CAPN1 NDUFS8 TYMP TNXB DSTYK TPI1 VPS13A SLC25A1 RFC1 FBLN5 ADAR GTF2H5 MTMR14 WFS1 GJB1 SEPTIN9 CLCN6 RNF168 RAD21 AIFM1 ATXN1 HLA-DQB1 ERCC5 SNAP29 MT-CYB PEX10 DNMT1 SIL1 ACER3 PIGB PEX7 TK2 MT-ND5 PRICKLE1 PPP2R2B MYH14 MPLKIP COX20 FAH CYP27A1 DYNC1H1 DMPK HSD17B4 FUCA1 AARS1 CHAT PET100 TTPA TREX1 PLP1 GCK ASCC1 GRM1 NOTCH2 RAB18 PRF1 NDUFA12 SCN9A SACS MPC1 RAB7A NDUFS3 COX15 SLC30A10 PSMC3 APTX LYST MT-CO1 WDR48 HADH MT-TK DNM1L NF2 PDX1 BRD4 TARS1 ALS2 NDUFA13 RAI1 DGUOK CISD2 DHX16 TGFB1 B4GALNT1 NDUFS7 COQ7 MTRR PMM2 TBC1D24 HNRNPA1 KRT14 SPTBN4 SLC12A6 TRAPPC11 GCDH AP1S1 SCO2 TIMMDC1 TBCD GTF2E2 PEX11B PDE4D LAMA2 XRCC4 PLEKHG4 PEX6 SMPD1 TXN2 DNAJC30 CTLA4 SDHA MT-TF NARS1 ADAT3 HK1 ACOX1 PIK3R5 GLE1 ATL1 FOXRED1 SLC52A2 PMPCA ATP13A2 MT-TQ PEX5 BAG3 BSCL2 KCNK9 TUBB3 UCHL1 SPTLC1 AR GBA2 TRIM2 INPP5K ERCC6 NDUFAF5 MT-ND4L ECHS1 SUCLA2 PDSS1 MT-TS1 RPIA PNKP RNF170 DEAF1 NAGS DKK1 DHH MARS1 MT-TE COA8 FLII RAB3GAP2 CA2 ATP1A1 EDNRB MTHFR NAGLU IDS ARSA MT-ND3 STXBP2 SERPING1 GCLC TMPRSS6 ATAD3A MYOT TBC1D20 DNASE1L3 XRCC1 PRKAR1A KCNJ10 HADHB INF2 NDUFA2 PNPLA6 SHMT2 RNF113A MCM3AP MYF6 NIPBL NDRG1 PIEZO2 CYP2U1 MT-TH NOTCH3 COMP MTFMT DNAJC3 ATP6V1B2 VPS13D STX11 SPG7 DCAF8 SCYL1 KLHL9 PLOD1 IBA57 RNASEH2B POLR3A XPA HSPB8 ATXN8OS ALAD ATL3 MAG ALDH4A1 NDUFAF3 AP1B1 ARL6IP1 ADA2 HSPB3 SETX B2M CD28 FXN HLA-DPB1 ELP1 REEP1 TNFRSF1B XPC AAAS SCN11A DDB2 FBN1 SLC25A4 XK PDHA1 NEMF FAM126A SLC5A6 ABCD1 AMPD2 PRTN3 AMACR RNASEH2C MT-TL1 COASY ARSI TIMM8A COG8 BIN1 WAS RETREG1 UNC13D GJC2 SNAP25 RNASEH2A UQCRC1 PEX12 FDX2 CD59 MT-CO2 NDUFA9 NDUFAF6 PHYH MICU1 DST CTDP1 GNPTAB AGRN BTNL2 FLRT1 NDUFA10 DEGS1 WNK1 NDUFV2 ATP5F1E PLD3 STAT3 IGHMBP2 ACO2 HLA-B GDAP1 KIF1C SCP2 HNRNPA2B1 NEFH NDUFV1 IQSEC2 PLA2G6 PEX1 UBA1 ABHD12 C19orf12 COA3 KRT5 NDUFA4 COA7 POLR3B RYR1 NDUFS1 SLC52A3 WIPF1 DNM2 LRPPRC SCN10A VAMP1 INS SMC3 MFF PNPT1 VWA1 SMC1A RNASEH1 KRAS HLA-DQA1 CTSD NGF OSTM1 DDHD1 NDUFB8 NDUFS4 MT-TV NDUFAF2 KARS1 TRIP4 RMND1 GMPPA HSD3B7 SPG21 HP_ABNORMAL_DISTAL_PHALANX_MORPHOLOGY_OF_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DISTAL_PHALANX_MORPHOLOGY_OF_FINGER TRPS1 MGP KCNJ8 RBPJ KCNH1 PIGL SUFU EOGT KNSTRN KIF7 AMMECR1 DYNC2LI1 RTL1 SLC25A24 GPC4 ROR2 GNAS MCTP2 BMPR1B ZNF41 CRIPT MRPS28 PIGV ARSL SLC9A7 RPS6KA3 SPTBN1 NOG ZNF81 BANF1 PTHLH FRMPD4 CHST3 AGTR2 PTCHD1 CTSK ARX TRPV4 COG4 IFT43 FTSJ1 PAK3 PIGY GATAD2B NXN ARID1B CLCN7 EP300 COMP GDF5 ATP6V1B2 RAB3GAP2 PIGN FIG4 ACP5 FGFR2 EDA HOXD13 MAP3K7 CWC27 IHH ZBTB20 SYP SALL4 DLG3 NFIX PCNT PIGF DVL1 PIGS VAC14 MEG3 GPC3 ZMPSTE24 UNC80 LRP4 MTOR LMNA SMARCA2 WDR19 WDR35 IFT122 WNT5A PIGW FLNB COL2A1 IGF2 PAH CTSC CRKL SETBP1 B3GALT6 BCR FN1 LMBR1 DMD PTCH1 IFT52 ARID1A PGAP3 POC1A ACSL4 ZNF711 CHUK CNKSR2 TFAP2B MID2 HOXA13 B3GAT3 PIGB ARHGEF6 SOX11 EVC GGCX ACTL6B RMRP RAB39B IARS1 PGAP2 GDI1 KDM5C NOTCH2 GLI1 ALG13 FLNA MECP2 USP27X CCDC22 CREBBP JAG1 LEMD3 SMARCE1 COL10A1 CANT1 MTX2 TSPAN7 MAPK1 PIK3CD MED12 ALG6 PTCH2 TBC1D24 SETD5 IQSEC2 ARHGAP31 ABCC9 STEEP1 PIGO DLL4 TBX3 EVC2 DSP NALCN IL1RAPL1 STAMBP SMARCA4 KCNN3 DDR2 IFT57 UPF3B TGFBR2 RNU4ATAC PHF6 USP9X SOST MACROH2A1 CLCN4 NOTCH1 PITX1 VPS35L POR DOCK6 HCFC1 RAB3GAP1 EDA2R PPP2R3C CHST11 KIF22 TWIST1 SMARCB1 DLK1 HS2ST1 HP_ABNORMAL_MIDDLE_PHALANX_MORPHOLOGY_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MIDDLE_PHALANX_MORPHOLOGY_OF_THE_HAND BHLHA9 TFAP2B HOXA13 TRPS1 NOG TRPV4 FIG4 GDF5 GNB2 GMNN PDE4D IHH KNSTRN INTU FGFR1 BMP2 GATA1 MYCN KMT2A MIR17HG ROR2 RAB23 NFIX PCNT CHSY1 DVL1 BMPR1B GJA1 VAC14 IFT57 MEGF8 PUF60 MECOM EIF2AK3 PHF6 FGFR3 PQBP1 KMT2D RBBP8 FGFR2 RUNX2 KDM6A FGF10 WNT5A NONO NEPRO HOXD13 PTDSS1 BMP4 IGF2 SLC26A2 NIN COL10A1 PTH1R PIK3CD LMNA COL2A1 HP_ABNORMAL_PROXIMAL_PHALANX_MORPHOLOGY_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PROXIMAL_PHALANX_MORPHOLOGY_OF_THE_HAND BHLHA9 TRPS1 FIG4 GDF5 CREBBP KIF15 FLNB IHH FANCD2 TRIO CDKL5 RAB23 CHSY1 GNAS FGFR3 VAC14 BMPR1B KIF22 LMBR1 SHH MTOR EP300 COL10A1 COL2A1 NOG HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANGES_OF_THE_HAND MID2 NOG HOXA13 MGP KCNJ8 RBPJ KCNH1 PIGB PIGL SUFU EOGT FIG4 KNSTRN DVL1 ARHGEF6 SOX11 DYNC2LI1 EVC ZMPSTE24 SLC25A24 GGCX ACTL6B RAB39B COL2A1 PGAP2 ARSL GDI1 MCTP2 BMPR1B ZNF41 CRIPT KDM5C RPS6KA3 PIGV NOTCH2 GLI1 ALG13 SLC9A7 FLNA ZNF81 MECP2 USP27X CCDC22 PTHLH FRMPD4 JAG1 ROR2 HOXD13 IFT52 AGTR2 PTCHD1 ARX TRPV4 COG4 SMARCE1 IFT43 COL10A1 FTSJ1 PAK3 PIGY TRPS1 TSPAN7 NXN MAPK1 SETBP1 GPC4 PIK3CD ARID1B CLCN7 COMP MED12 GDF5 ATP6V1B2 ALG6 PTCH2 TBC1D24 IQSEC2 ARHGAP31 PIGN ABCC9 STEEP1 ACP5 EDA MAP3K7 IHH CWC27 PIGO DLL4 ZBTB20 TBX3 EVC2 SYP IL1RAPL1 SALL4 DLG3 NFIX PCNT PIGF STAMBP SMARCA4 KCNN3 GNAS PIGS VAC14 IFT57 UPF3B GPC3 WDR19 TGFBR2 PHF6 MTOR USP9X SMARCA2 CLCN4 NOTCH1 WDR35 IFT122 LMNA VPS35L CTSK POR PIGW FLNB DOCK6 CHST3 IGF2 HCFC1 CRKL BCR EDA2R FN1 CHST11 DMD SMARCB1 PTCH1 ARID1A PGAP3 POC1A ACSL4 ZNF711 CHUK CNKSR2 HP_BROAD_DISTAL_PHALANX_OF_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_DISTAL_PHALANX_OF_FINGER SETD5 IFT122 B3GAT3 CREBBP CHST3 FGFR2 SMARCA2 FLNB B3GALT6 AMMECR1 RTL1 GPC4 HOXD13 GNAS GATAD2B KIF22 MEG3 WDR19 RNU4ATAC DLK1 EP300 HS2ST1 FLNA HP_OSTEOLYTIC_DEFECTS_OF_THE_DISTAL_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOLYTIC_DEFECTS_OF_THE_DISTAL_PHALANGES_OF_THE_HAND ZMPSTE24 CTSK MTX2 LMNA BANF1 HP_SYMPHALANGISM_OF_MIDDLE_PHALANX_OF_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYMPHALANGISM_OF_MIDDLE_PHALANX_OF_FINGER BHLHA9 TFAP2B PQBP1 GDF5 NOG NONO HP_APLASIA_HYPOPLASIA_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND FGFR3 FIG4 VAC14 BMPR1B KIF15 LMBR1 SHH IHH FANCD2 MTOR COL2A1 GDF5 TRIO HP_SIMPLIFIED_GYRAL_PATTERN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SIMPLIFIED_GYRAL_PATTERN SMARCB1 ANKLE2 SMPD4 LMNB1 SOX4 ARID2 ZNF335 KIF11 CEP152 TRAIP LMNB2 FOXG1 GMNN DONSON MED27 PSAT1 SON CDC40 CENPE XRCC4 SPOP EXOC7 TUBGCP6 ARID1B CASK C2CD3 SMARCE1 ASNS KATNB1 RTTN PLK4 PPIL1 IER3IP1 ERCC1 NDE1 OSGEP AHDC1 KIF14 DCHS1 CDK6 QARS1 CLP1 SMARCC2 COPB2 TUBB2A ASPM TSEN2 PRKDC VLDLR SMARCA4 SMARCD1 GFM2 DPF2 PNKP CSNK2A1 MPDZ CIT TUBB3 CDK5RAP2 STIL WDR62 SOX11 DYNC1I2 ARID1A CUL4B HP_DUPLICATION_OF_THE_DISTAL_PHALANX_OF_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUPLICATION_OF_THE_DISTAL_PHALANX_OF_HAND ROR2 CANT1 DVL1 WNT5A PPP2R3C LMBR1 FGFR2 TWIST1 KIF7 BMPR1B GDF5 PAH LEMD3 HP_TAPERED_DISTAL_PHALANGES_OF_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TAPERED_DISTAL_PHALANGES_OF_FINGER CTSC DSP NALCN SPTBN1 UNC80 HP_TRICHORRHEXIS_NODOSA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRICHORRHEXIS_NODOSA ERCC2 MPLKIP SKIV2L KRT25 TTC37 HEPHL1 ASL CLCN6 SPINK5 HP_ABNORMALITY_OF_HAIR_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_HAIR_PIGMENTATION SIM1 TFAP2A MAFB HERC2 LMNA ACD TERT KANSL1 RTEL1 TERC EDNRB SNAI2 STN1 UROC1 LPAR6 ZNF469 ERCC8 MITF SNRPN HPS1 NHP2 TYRP1 CTNS FAS POMC BLOC1S3 TYR HPS4 PAX3 SOX10 LAMTOR2 MC1R NDN PEPD PARN MDM2 OCA2 MAGEL2 CACNA1F ATM EPG5 TMCO1 PAH SLC45A2 DKC1 NOP10 PIGN ZNF699 MYO5A MTAP TP63 PRKAR1A TINF2 AP3B1 FDFT1 INSR MLPH DTNBP1 EDN3 TTC37 NPM1 KRT71 PDE4D DSTYK UBE3A DCT CHN1 BRCC3 GNPTAB KIT WRN RAB27A TGM3 RECQL4 AP3D1 SLC17A5 UBR1 ATP7A ABCA2 LYST FGFR3 MLXIPL KITLG LIPH PTPN22 LRMDA SALL4 HPS3 SNORD116-1 PSMB8 KRT74 KRT25 PRDM5 SKIV2L ERCC6 ELN LRPPRC PWRN1 HPS5 WRAP53 DHCR7 USB1 MKRN3 MOGS PWAR1 CTC1 NPAP1 ATP10A PADI3 BLOC1S5 RMRP HPS6 SNORD115-1 PCSK1 HP_ABNORMALITY_OF_SECONDARY_SEXUAL_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SECONDARY_SEXUAL_HAIR CCDC141 GJB6 GATA4 LHX4 NR5A1 FSHR FOXL2 SPRY4 DUSP6 WDR11 LHB AR CCBE1 SEMA3E HLA-DRA ZBTB20 GNRH1 GLI2 TBX3 AXIN2 SRA1 FAT4 APOE OTX2 NUP107 SOX3 CYB5A SOX9 ITGB4 POLR3H MAP3K1 POU1F1 ADAMTS3 SPIDR ZFPM2 WWOX BMP15 APCDD1 CYP17A1 LPAR6 TP63 PROP1 MRPS22 FOXA2 SNRPE BNC1 FSHB HESX1 NR0B1 DHX37 FGF17 FEZF1 WT1 PPP2R3C GNRHR COL17A1 EPS8L3 ORC6 ANOS1 DSC3 SRY AXL VAMP7 DMRT3 PSMB8 MDM2 PSMC3IP HP_LOCALIZED_HIRSUTISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOCALIZED_HIRSUTISM WNT4 PPP1R21 CPOX RPL10 TBX15 MEG3 AFF4 ARID1B TASP1 DLK1 PEPD CKAP2L RTL1 FLNA HP_HIGH_ANTERIOR_HAIRLINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_ANTERIOR_HAIRLINE NSD2 TBL1XR1 BICRA SPECC1L RERE DLX4 SLC9A7 SATB1 ALX3 CTBP1 SLC35C1 UGP2 ZC4H2 TWIST1 CWC27 THOC6 SPEN CDH1 WNT4 GDF11 CPLX1 LRP2 NSD1 EFNB1 PPP1CB NOVA2 ADNP RALGAPA1 IFIH1 LMX1B KDM1A STAG2 SOS1 PEX6 FGD1 KCNH1 ALX1 NELFA LETM1 NEPRO MID1 SIN3A ADARB1 CCNK ANKRD17 SETD2 ATP6V1B2 PIGG SYT1 HS2ST1 PIGK MEIS2 PEX1 HP_UNDERDEVELOPED_SUPRAORBITAL_RIDGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNDERDEVELOPED_SUPRAORBITAL_RIDGES PEX6 TBX1 PPP1R21 KRAS FGFR2 KIF11 PEX11B PEX16 KNSTRN POR PEX5 SOX11 TTC37 GDF1 SLC25A24 LIG4 PEX1 GATA6 PIK3CD RAB23 MAP2K1 SPOP PEX2 HBA1 PEX26 RBM10 ZIC1 PEX13 ZFPM2 FGFR3 ESCO2 PRMT7 BRAF GATA5 PEX14 CITED2 PEX3 NEU1 TWIST1 GJA5 NSUN2 HBA2 PEX10 PEX12 PEX19 JAG1 NKX2-5 LZTR1 TCF12 MASP1 FLT4 ANTXR1 GHR GATA4 TRAPPC9 MAP2K2 NKX2-6 MYOD1 HP_ANOTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANOTIA ORC1 CDT1 CDC6 FANCB GMNN ORC4 POLR1A ORC6 CHUK HOXA2 CDC45 HP_THICKENED_EARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICKENED_EARS AFF4 KCNH1 KCNN3 TAF1 ABCC8 ATP6V1B2 ALMS1 KCNJ11 PTCH1 HP_ABNORMALITY_OF_THE_CRUS_OF_THE_HELIX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CRUS_OF_THE_HELIX PLCB4 FGFR2 TWIST1 EDN1 STEEP1 ZNF462 FGFR3 GNAI3 TCTN3 HS2ST1 HP_ABNORMALITY_OF_THE_ANTITRAGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ANTITRAGUS RAB3GAP2 KCTD1 COL2A1 B3GAT3 PNPLA6 FN1 KAT6A CHST3 PIGK HP_PROMINENT_CRUS_OF_HELIX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_CRUS_OF_HELIX FGFR2 TWIST1 STEEP1 FGFR3 HS2ST1 HP_PROMINENT_EAR_HELIX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_EAR_HELIX DOCK7 ZMIZ1 ACBD5 LMNA AFF2 ZMPSTE24 HP_APLASIA_HYPOPLASIA_OF_THE_EARLOBES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_EARLOBES TBX1 SEC24C AHDC1 COMT POLR3A SLC35C1 FIG4 TRAIP JMJD1C SMS PCNT UFD1 ESCO2 EBF3 RBBP8 ABHD5 ATRIP HBA1 ATR B4GALT7 RBM10 CENPJ PTPRF FLI1 GP1BB FGFR2 COL3A1 CREBBP ARVCF EP300 HBA2 COL2A1 CEP152 CENPE VPS13B KCTD1 RREB1 FN1 KAT6A PLK4 CHD7 HIRA SEMA3E CDC6 HP_UPLIFTED_EARLOBE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPLIFTED_EARLOBE TBL1XR1 AHDC1 PIGB GRIA3 ZEB2 EHMT1 IL1RAPL1 SMARCD1 BMP4 PIGQ KMT2C HP_ABNORMAL_TEMPORAL_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TEMPORAL_BONE_MORPHOLOGY GDF3 GDF6 CEP57 FGFR3 POR HP_ABNORMALITY_OF_THE_TRAGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_TRAGUS KCTD1 NUP188 RNU4ATAC GLI2 DACT1 KAT6A SALL1 PIGN SMCHD1 EFTUD2 HP_APLASIA_HYPOPLASIA_OF_THE_TRAGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_TRAGUS KCTD1 NUP188 GLI2 KAT6A SMCHD1 EFTUD2 HP_CYCLOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYCLOPIA DLL1 SHH FOXH1 SIX3 TDGF1 STAG2 CDON SMC1A PTCH1 FGFR1 ZIC2 GLI2 STIL GAS1 FGF8 NODAL DISP1 TGIF1 OTX2 PRRX1 SUFU HP_ANISOCORIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANISOCORIA GMPPA AAAS TMEM67 SIN3A PMP22 DDX6 LOXL1 SH3TC2 HP_PERSISTENT_PUPILLARY_MEMBRANE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERSISTENT_PUPILLARY_MEMBRANE POMT2 ADAMTSL4 ATOH7 CPAMD8 GJA1 HP_ECTOPIA_PUPILLAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTOPIA_PUPILLAE CPLX1 PAX6 ZEB1 CTBP1 TBX2 GRHL2 ZEB2 FOXC1 VSX1 MAB21L2 CPAMD8 FBN1 OVOL2 RHOA WT1 ADAMTSL4 LETM1 NSD2 COL4A1 FGFRL1 COL8A2 PCYT1A HP_APLASIA_HYPOPLASIA_INVOLVING_THE_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_NOSE EXT2 RNU4ATAC SHH BICRA MGP SIX3 GMNN FLNB RDH11 FGF3 SOX11 FGFR1 PRPS1 PURA PHF21A HNRNPK ESCO2 MVK OFD1 STIL GLI2 DDB1 PLEC UBR1 ALG9 RSPO2 CKAP2L MYH3 ESS2 DGCR2 NFIX TRIO ZIC2 NAA10 ANKRD11 TXNL4A GJA1 DDR2 MITF ALX1 SMCHD1 KANSL1 ASXL3 TBX1 NEXMIF SIN3A FREM2 PTCH1 MYO18B SOX10 DGCR6 WNT3 RIPK4 TP63 MAPK1 CTNNB1 TWIST2 ATP6V1B2 RECQL4 STAG2 SCARF2 DGCR8 MADD HNRNPH2 PRKAR1A NSUN2 FRAS1 MTX2 CWC27 GRIP1 OTX2 LMBR1 HDAC4 TWIST1 NALCN NOG PIK3R1 ORC4 PPP1CB DISP1 FGF8 KCNJ6 ZMPSTE24 ALX4 TONSL EDA SMARCA2 EDNRB DYRK1A TGIF1 CREBBP CLP1 LMNA TAF6 CENPJ EDN3 SPATA5 CRKL PCNT BCR PAX3 PDE4D EIF5A USH1G PPP2R3C EDEM3 UBE2A GHR PRRX1 TRPS1 HP_EPIPHORA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPIPHORA FGFR3 DKC1 HLA-DRB1 NOP10 FGFR2 SEMA4A NHP2 OVOL2 TINF2 LRP1 SREBF1 KRT3 IGSF3 NLRP3 SLC39A14 COL17A1 KRT12 SDHD FGF10 HP_THICK_NASAL_ALAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICK_NASAL_ALAE SMARCB1 SOX4 AKT1 ARID2 TRPS1 SYNGAP1 KCNH1 CHD2 AP2M1 KANSL1 SMARCC2 SMARCA2 ABCA5 ABCC9 SMARCA4 PTEN CCNK SMARCE1 PIK3C2A SLC2A1 SMARCD1 MED12 NEXMIF DPF2 RPS6KA3 RHOA ZSWIM6 ANTXR1 SLC6A1 ANKRD17 NF1 ARID1B ARSL SCN1A SOX11 ARID1A EXT1 HP_ABNORMALITY_OF_THE_COLUMELLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_COLUMELLA ERF CWC27 ZNF148 ZMIZ1 BICRA PPP1R21 NALCN HDAC4 LMBR1 TWIST1 ALX3 RDH11 SOX11 ALG9 CREBBP THOC6 ALX4 KDM3B PIK3C2A EXOSC2 CKAP2L SHH KDM6A CTCF FLI1 ARSL PQBP1 KMT2D TRIO ITCH NAA10 AFF3 CENPF ATP6V1E1 AIMP2 ACTB GJA1 CAPN15 ASXL3 ZEB2 CDH11 RAC1 B3GLCT ACTG1 ZSWIM6 TBCD DNMT3A MGAT2 SRCAP TSPEAR EP300 KAT6A EDEM3 KCTD1 UBE2A CTNNB1 MADD HNRNPH2 ATN1 NOG HP_SINGLE_NARIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SINGLE_NARIS DLL1 GLI2 NODAL FOXH1 STAG2 SHH TDGF1 CDON SMC1A PTCH1 ZIC2 CSPP1 GAS1 FGF8 SIX3 WNT3 SMCHD1 TGIF1 DISP1 FGFR1 HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_SEPTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_SEPTUM FLNB PTCH1 NOG SIX3 TGIF1 HP_SUNKEN_CHEEKS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUNKEN_CHEEKS LRP1 AEBP1 TUBB4A NGLY1 PSMC3 HP_MANDIBULAR_APLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MANDIBULAR_APLASIA COX7B ORC4 ORC6 CHUK OTX2 ORC1 PRRX1 CDT1 CDC6 NDUFB11 GMNN FAM20C HCCS CDC45 HP_DUPLICATION_OF_THUMB_PHALANX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUPLICATION_OF_THUMB_PHALANX RPS28 RPL11 RPS15A RPL27 BCOR ADA2 NUP107 SALL1 TBX5 INTU KIF7 RPL18 RPS20 RPL5 RAB23 SMO CHSY1 RPL31 NAA10 RPL35 FGFR2 FANCE GLI1 RPL35A BMPR1B FGFR3 ESCO2 FANCA RPS29 RPS10 RPS19 GATA1 RPS26 ACTB FANCC FGF10 RPL26 UBE2T GDF5 RPL15 FANCD2 PAH TSR2 ACTG1 CANT1 RPS7 GLI3 PPP2R3C LMBR1 SHMT2 RPS17 RPS27 DACT1 RPS24 HP_COMPLETE_DUPLICATION_OF_PHALANX_OF_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMPLETE_DUPLICATION_OF_PHALANX_OF_HAND RAB23 CHSY1 FANCC BCOR NAA10 LMBR1 SHMT2 FANCE BMPR1B GDF5 FANCD2 ESCO2 FANCA LEMD3 HP_PARTIAL_DUPLICATION_OF_THE_PHALANX_OF_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARTIAL_DUPLICATION_OF_THE_PHALANX_OF_HAND RPS29 RPS28 RPL11 RPS10 RPS19 GATA1 NUP107 RPS26 RPS15A RPL27 FGF10 ADA2 RPL26 SALL1 TBX5 INTU DVL1 KIF7 RPL18 RPL15 FANCD2 PAH TSR2 RPS20 RPL5 CHSY1 CANT1 RPS7 RPL31 PPP2R3C RPL35 FGFR2 TWIST1 GLI1 RPS17 RPS27 RPL35A DACT1 RPS24 FGFR3 HP_PARTIAL_DUPLICATION_OF_THE_DISTAL_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARTIAL_DUPLICATION_OF_THE_DISTAL_PHALANGES_OF_THE_HAND FGFR2 TWIST1 KIF7 CANT1 PAH PPP2R3C HP_ABNORMALITY_OF_THE_1ST_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_1ST_METACARPAL HOXA13 NOG HDAC8 VPS35L FIG4 ACVR1 FANCI FZD2 NONO GDF5 IHH FANCD2 RTL1 TRIO SETBP1 PCNT BRD4 CANT1 GNAS SMC3 VAC14 MEG3 NIPBL SALL4 LMBR1 SHH BMPR1B SMC1A DLK1 PQBP1 RAD21 HP_ABNORMALITY_OF_THE_2ND_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_2ND_METACARPAL GLI3 BMP2 BMPR1B RUNX2 GDF5 SALL1 HP_ABNORMALITY_OF_THE_4TH_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_4TH_METACARPAL PTCH2 FBXL3 FERMT1 GLI3 GNAS DCHS1 PIGS LBR SUFU SVBP SHOX HOXD13 PTCH1 SRY FGF16 FLNA FAT4 SMOC1 HP_ABNORMALITY_OF_THE_5TH_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_5TH_METACARPAL NOG RUNX2 FERMT1 FBN1 GNAS KIAA0586 LBR BMP2 HOXD13 SVBP CSPP1 FGF16 FLNA LTBP3 SMOC1 HP_SHORT_1ST_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_1ST_METACARPAL HOXA13 NOG HDAC8 VPS35L ACVR1 FANCI FZD2 RTL1 GDF5 SETBP1 PCNT BRD4 CANT1 SMC3 MEG3 NIPBL SALL4 SMC1A DLK1 RAD21 HP_APLASIA_HYPOPLASIA_OF_THE_2ND_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_2ND_METACARPAL GLI3 BMP2 BMPR1B RUNX2 GDF5 HP_APLASIA_HYPOPLASIA_OF_THE_4TH_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_4TH_METACARPAL PTCH2 FBXL3 FERMT1 GLI3 GNAS DCHS1 PIGS LBR SUFU SVBP SHOX PTCH1 SRY FLNA FAT4 HP_APLASIA_HYPOPLASIA_OF_THE_5TH_METACARPAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_5TH_METACARPAL NOG SVBP RUNX2 FERMT1 GNAS LBR BMP2 FLNA HOXD13 HP_APLASIA_OF_METACARPAL_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_METACARPAL_BONES LMBR1 SHH RECQL4 GLI3 FANCD2 SALL4 FIG4 TRIO VAC14 HP_DEVIATION_OF_THE_HALLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVIATION_OF_THE_HALLUX PALS1 JARID2 MYT1L KMT2E HOXA13 ZMIZ1 CCDC32 GTF2I B3GALT6 B3GAT3 FGFR2 MYH3 TP63 GTF2IRD1 CLIP2 WASF1 ABHD11 NTNG1 BMPR1B FGFR1 TCF12 C2CD3 GBA ELN SLC29A3 WDFY3 AEBP1 EIF4H ITCH LAT2 NUP107 STX1A ACVR1 ATP6V1B2 TRIP12 CHST3 NONO SLC12A2 SVBP ZEB2 ZNF469 BMP2 FHL1 TANC2 MED27 GRIA4 MLXIPL SLC16A2 BUD23 KAT6A CNOT3 HOXD13 ACTL6B METTL27 KCNMA1 TBL2 SCARF2 PSMB8 LIMK1 EP300 TCF20 CLDN3 CREBBP SF3B4 ERF CWC27 PRDM5 BAZ1B AKT1 HUWE1 KAT8 DPYSL5 HS2ST1 BPTF PUS7 DDX6 PTPN23 MED13 UBR7 GDF5 PTEN CDKL5 COL1A2 NTNG2 ERMARD USP9X GTF2IRD2 FGFR3 KCNN3 RBBP8 DOCK3 RLIM YY1 DYRK1A NCF1 ACTL6A RFC2 MAPK8IP3 HPDL FKBP6 USP7 CLDN4 FGF9 DNAJC30 KCNH1 HTT VPS37D SRY BCORL1 KDM4B TWIST1 TNRC6B PSMD12 TRMT1 CHST11 TMEM270 TRAPPC4 BCL7B SATB1 FBXW11 AGO2 ATL3 MADD IL11RA HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_HALLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_HALLUX HOXD13 CANT1 TBR1 PTHLH FIG4 VAC14 HP_ABNORMALITY_OF_THE_FIRST_METATARSAL_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FIRST_METATARSAL_BONE FGFR2 TWIST1 HOXA13 CANT1 ACVR1 VPS35L NEK1 FIG4 VAC14 ABCC9 HP_ABNORMALITY_OF_THE_PHALANGES_OF_THE_HALLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PHALANGES_OF_THE_HALLUX BHLHA9 IFT122 FGFR2 TBR1 ABCC9 PTHLH FIG4 KCNJ8 ACTB IHH KIF7 ACVR1 BMP2 FGFR1 CREBBP TWIST1 EFNB1 SALL1 GLI3 SUMF1 HOXD13 RAB23 SALL4 CANT1 GATA4 NEK1 GPC4 EP300 VAC14 LMBR1 C2CD3 NXN CTCF ROR2 FLI1 DACT1 SATB2 HYLS1 HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_HALLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_HALLUX IHH ACVR1 PTHLH FIG4 VAC14 HOXD13 HP_BROAD_HALLUX_PHALANX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_HALLUX_PHALANX GLI3 SALL4 HOXD13 FGFR2 GATA4 ABCC9 GPC4 KCNJ8 NXN CTCF ROR2 FLI1 BMP2 DACT1 FGFR1 EFNB1 SATB2 SALL1 SUMF1 HP_DUPLICATION_OF_PHALANX_OF_HALLUX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUPLICATION_OF_PHALANX_OF_HALLUX RAB23 ACTB KIF7 CANT1 NEK1 CREBBP TWIST1 EP300 HYLS1 LMBR1 C2CD3 HP_ABNORMALITY_OF_THE_PHALANGES_OF_THE_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PHALANGES_OF_THE_TOES GJB6 DMXL2 NOG KCNJ8 TRIM8 SLCO2A1 KIF7 BRCA2 ZMPSTE24 GLI3 SCN2A FANCE RHBDF2 RAB23 HOXD13 GATA4 C2CD3 PIGQ KCNH1 NEUROD2 ARSL FANCI FGFR2 PNKP COL3A1 PTHLH SLX4 SCN1B FANCA ROR2 SMARCA2 SCN9A ACVR1 FGFR1 KIF1A LMNA WNK1 EFNB1 TRPV4 FANCL CANT1 MTX2 RETREG1 HPGD RIPK4 KCNA1 NXN GDF5 PIGP RFWD3 ARID1B PIGL DACT1 ERCC4 ATP6V1B2 HYLS1 BHLHA9 TBC1D24 GNAO1 XRCC2 FANCB ABCC9 FIG4 ACTB CDKL5 IHH BMP2 CASK CREBBP TWIST1 ARX SALL4 PIGF KCNN3 NEK1 GPC4 VAC14 CTCF SOX9 WDR19 FLI1 TP63 COL6A3 SIK1 BMPR1A FANCF IFT122 TBR1 FANCC BMPR1B COL12A1 UBE2T FANCG SALL1 SUMF1 RAD51 FGFR3 EP300 NOTCH2 BRCA1 LMBR1 UBE2A COL6A2 PTEN BRIP1 FANCD2 MED25 TLL1 STXBP1 SLC25A22 FANCM PALB2 SATB2 WNT7A HS2ST1 MAD2L2 COL6A1 RAD51C HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_TOES NOG TBC1D24 PTHLH FIG4 BMPR1B ROR2 TRPV4 IHH ACVR1 LMNA HOXD13 RAB23 PIGF KCNN3 GPC4 RIPK4 VAC14 GDF5 KCNH1 ARID1B PIGL ARSL TP63 ATP6V1B2 WNT7A HP_BROAD_PHALANX_OF_THE_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_PHALANX_OF_THE_TOES PNKP DMXL2 FGFR2 GNAO1 ABCC9 KCNJ8 SCN1B TRIM8 CDKL5 BMP2 FGFR1 CASK EFNB1 ARX SALL1 GLI3 SUMF1 SCN2A SALL4 HOXD13 GATA4 GPC4 KCNA1 NXN CTCF ROR2 PIGQ PIGP PTEN NEUROD2 WDR19 FLI1 MED25 DACT1 STXBP1 SLC25A22 SATB2 SIK1 HS2ST1 BMPR1A HP_ABNORMALITY_OF_THE_DISTAL_PHALANGES_OF_THE_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_DISTAL_PHALANGES_OF_THE_TOES ZMPSTE24 NOG LMNA TBR1 PTHLH FIG4 ROR2 TRPV4 HOXD13 PIGF CANT1 MTX2 KCNN3 GPC4 RIPK4 VAC14 KCNH1 ARID1B MED25 ARSL HS2ST1 HP_ABNORMALITY_OF_THE_MIDDLE_PHALANGES_OF_THE_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MIDDLE_PHALANGES_OF_THE_TOES NOG HOXD13 TRPV4 RAB23 IHH FGFR1 FIG4 FGFR3 VAC14 FGFR2 HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANGES_OF_THE_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANGES_OF_THE_TOES PIGF NOG KCNN3 PTHLH FIG4 GPC4 RIPK4 VAC14 ROR2 TRPV4 KCNH1 ARID1B ARSL HOXD13 HP_APLASIA_HYPOPLASIA_OF_THE_MIDDLE_PHALANGES_OF_THE_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_MIDDLE_PHALANGES_OF_THE_TOES NOG RAB23 IHH FIG4 VAC14 HP_CONE_SHAPED_EPIPHYSES_OF_THE_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONE_SHAPED_EPIPHYSES_OF_THE_PHALANGES_OF_THE_HAND ATR TRPS1 NPR2 GPX4 MIA3 IFT172 FLNA KIF15 PRKAR1A IHH COG4 TRIP11 DYM SRCAP RMRP NEK1 FGFR3 BGN RUNX2 GDF5 EVC MRPS28 EIF2AK3 COL2A1 EVC2 IFT52 IFT140 EXT1 HP_IVORY_EPIPHYSES_OF_THE_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IVORY_EPIPHYSES_OF_THE_PHALANGES_OF_THE_HAND TRPS1 EIF2AK3 ERCC6 ERCC8 TONSL HP_APLASIA_OF_THE_MIDDLE_PHALANX_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_MIDDLE_PHALANX_OF_THE_HAND GJA1 LMNA FGFR3 FGF10 FGFR2 MEGF8 HP_SHORT_PROXIMAL_PHALANX_OF_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_PROXIMAL_PHALANX_OF_FINGER KIF15 FGFR3 IHH MTOR COL2A1 GDF5 BMPR1B HP_APLASIA_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND LMBR1 SHH FANCD2 FIG4 TRIO VAC14 BMPR1B HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_DISTAL_PHALANX_OF_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_DISTAL_PHALANX_OF_FINGER MRPS28 TRPS1 BMPR1B GDF5 ARSL HP_STOMATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STOMATITIS HLA-DQB1 SRP54 NLRP3 ORAI1 GFI1 UBAC2 IL10 IL17RC IL23R IL12A RASGRP1 IL6 NOD2 HYOU1 CARMIL2 IL1RN MMACHC TBL1XR1 MEFV CCR1 ZAP70 STAT5B KLRC4 CASP10 STAT4 WDR1 IL12A-AS1 RHOH LMBRD1 FAS C4A FIP1L1 PRKAR1A PRKCD DCLRE1C HLA-DQA1 NLRP12 ZBTB16 RNF125 HLA-B NABP1 ELANE FASLG PRKDC ITK ERAP1 RARA MVK BCOR NCF4 TCIRG1 NUMA1 CD40LG NPM1 IRF9 TLR4 STAT3 PML IRF2BP2 KYNU HP_THIN_LOWER_LIP_VERMILION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIN_LOWER_LIP_VERMILION PIK3CD KNSTRN THOC6 PIGN HS2ST1 HP_ABNORMAL_SALIVARY_GLAND_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SALIVARY_GLAND_MORPHOLOGY B2M FGFR3 MLH1 IRF6 MSH6 PLAG1 MSH2 FGF10 TP63 HLA-DRB1 TCOF1 FGFR2 BTNL2 ATP2A2 OGDH CXCR4 PSMB8 GRHL3 NOD2 HP_APLASIA_HYPOPLASIA_OF_THE_UVULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_UVULA NXN FANCF WDR35 XRCC2 FANCB FANCC SLX4 FANCA UBE2T BRCA2 FANCG FANCE FANCL ROR2 RAD51 BRCA1 BRIP1 FANCD2 RFWD3 FANCM ERCC4 PALB2 FANCI MAD2L2 SPTBN1 RAD51C HP_PALATE_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALATE_FISTULA CDH1 MSX1 IRF6 DLX4 ARHGAP29 BMP4 TP63 DLG1 NECTIN1 HP_APLASIA_HYPOPLASIA_OF_THE_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_TONGUE PLCB4 TMEM107 EDN1 TMEM67 GLI3 TMEM216 TCTN1 MYMK B9D1 TRIM37 GNAI3 OTX2 B9D2 NEK1 TBX15 TMEM231 PTDSS1 DHCR7 BMP4 CSPP1 VPS13B CC2D2A TCTN2 TCTN3 PLXND1 REV3L SMO LMNB2 MKS1 RBBP8 PRRX1 TXNDC15 RPGRIP1 RPGRIP1L ECM1 TMEM237 CEP290 HP_ANKYLOGLOSSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANKYLOGLOSSIA CRKL MMP1 BCR AFF3 TELO2 RSPO2 NXN MAPK1 ROR2 ZMPSTE24 FAM111A COL7A1 TBX22 POU4F1 LMNA SPTBN1 HP_BIFID_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIFID_TONGUE DYNC2I1 GRIP1 ALX3 WNT5A DYNC2H1 IFT80 DVL1 HNRNPK DVL3 FREM2 DDX59 ROR2 DYNC2I2 RIPK4 WDR35 NEK1 FZD2 C2CD3 NXN MCTP2 DHCR7 CEP120 OFD1 FRAS1 HP_ABNORMAL_DENTIN_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DENTIN_MORPHOLOGY TENT5A KDELR2 MBTPS2 B3GALT6 CDH11 MIA3 SEC24D COL1A1 FKBP10 DSPP COL1A2 TRIP11 PHEX SMOC2 PPIB SERPINH1 ZNF469 IFITM5 HP_ABNORMALLY_LOW_PITCHED_VOICE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALLY_LOW_PITCHED_VOICE BRD4 TRPS1 EZH2 HDAC8 SRPX2 GRIN2A SMC3 SUZ12 NSD1 EED NIPBL SMC1A RAD21 HP_SPINAL_CORD_TUMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINAL_CORD_TUMOR SHH ZIC2 SIX3 CREBBP VHL FLI1 SMARCB1 FGFR1 DISP1 LZTR1 NF2 STIL GLI2 CCND1 RELA NF1 FGF8 ZFTA HP_ABNORMAL_SPINAL_MENINGEAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SPINAL_MENINGEAL_MORPHOLOGY MYLK NF1 SMAD3 TGFB3 SMAD2 TGFBR2 LOX FBN1 NOTCH3 KANSL1 PRKG1 MFAP5 ACTA2 FOXE3 MYH11 FOXC2 TGFBR1 RASA1 MAT2A TGFB2 ELN HEY2 SMAD4 HP_ABSENCE_OF_THE_SACRUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENCE_OF_THE_SACRUM VANGL1 PTH1R ZIC3 HAAO VANGL2 FUZ TBXT FANCB CCL2 NODAL HP_SHORT_THORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_THORAX CEP120 DYNC2LI1 SLC2A1 IHH DLL3 LFNG OBSL1 FLNA IFT172 RIPPLY2 SLC26A2 EVC2 DYNC2H1 EVC TRIP11 RMRP WDR19 SLC10A7 WDR35 COL2A1 DYM IFT80 NADSYN1 NEU1 TBX6 DYNC2I1 GLI1 CUL7 ACAN MESP2 DYNC2I2 BMPER TTC21B CCDC8 TRPV4 HES7 FGFR3 ORC6 FREM2 IFT140 PTH1R IFT52 HP_STRIDOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STRIDOR SLC5A7 PAX8 COQ2 GNPTAB PLP1 AGRN TRPV4 SLC18A3 SLC52A3 VPS33A SCN4A LAMA3 SERPING1 SYT2 FUZ FLNA MYO9A IGHMBP2 GTPBP3 VAMP1 LAMB3 SLC18A2 SNAP25 SLC25A1 CHAT KIF22 COL13A1 MAP3K7 SCARF2 LAMC2 MIR140 D2HGDH TSPYL1 HP_CHYLOTHORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHYLOTHORAX CBL TSC1 EPHB4 TSC2 PIEZO1 MAP2K1 BRAF BTNL2 CCBE1 RASA1 PTPN11 KIF11 ADAMTS3 ALG14 FAT4 HLA-DRB1 HP_APLASIA_HYPOPLASIA_OF_THE_BREASTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_BREASTS GNRH1 FGFR1 LHX4 FSHR CHD7 DUSP6 TACR3 CCDC141 TP63 HS6ST1 NDNF CDC6 SEMA3A USP9X GLI2 TBX3 FGF17 ORC1 IKBKG WDR11 MAF OTX2 KISS1 NUP107 SOX3 ORC4 ANOS1 POLR3H EFNB1 IL17RD ANTXR1 GNRHR POU1F1 CDT1 ACTB SPIDR DCC TWIST2 PROKR2 BMP15 PROK2 SPRY4 YY1 DYRK1A FLRT3 LMNA PROP1 MRPS22 FOXA2 BNC1 FSHB HESX1 GMNN FEZF1 FGF8 NIN ESR1 KISS1R KCTD1 PLXND1 REV3L ORC6 NR5A1 TAC3 SOX10 NSMF POC1A PSMC3IP CDC45 HP_PREMATURE_THELARCHE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_THELARCHE TANGO2 KDM6A CYP11B1 KMT2D MMP2 MKRN3 DYRK1A EIF5A CREBBP EP300 MMP14 HP_APLASIA_HYPOPLASIA_OF_THE_ABDOMINAL_WALL_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_ABDOMINAL_WALL_MUSCULATURE A2ML1 XYLT1 CANT1 PTPN11 GPC4 CBL NRAS RIT1 DIS3L2 FBN1 RRAS ACTG2 MCOLN1 COL3A1 COLEC11 FLNB RASA2 SOS2 KRAS BRAF SLC25A24 MYH3 MRAS RMRP RRAS2 RAF1 CHRM3 LZTR1 CHRNG CD96 GPC3 SOS1 ATP7A MANBA SKI HP_ABNORMALITY_OF_THE_2ND_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_2ND_TOE TBC1D24 BCOR ZNF81 MID2 MECP2 IQSEC2 CLCN4 USP27X STEEP1 FRMPD4 BMP2 AGTR2 ARHGEF6 PTCHD1 PIGL ARX SYP GDF5 IL1RAPL1 RAB39B HCFC1 DLG3 FTSJ1 PAK3 CHSY1 BMPR1B KCNN3 GDI1 TSPAN7 UPF3B ZNF41 DMD RPS6KA3 USP9X MED12 ALG13 SLC9A7 ATP6V1B2 ACSL4 ZNF711 CNKSR2 HP_ABNORMALITY_OF_THE_3RD_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_3RD_TOE BCOR DACT1 LMNA SALL1 COG8 HP_ABNORMALITY_OF_THE_5TH_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_5TH_TOE CEP120 TMEM107 DYNC2LI1 TMEM216 OTUD5 INPP5E PRKACB KCNJ2 MKS1 SALL1 TMEM231 SMOC1 IFT172 KIF7 DYNC2H1 DDX59 GLI3 IFT74 NPHP3 WDR19 SC5D CHSY1 CC2D2A TGFBR2 KCNN3 IFT80 TCTN3 PPP1R15B BBS9 CKAP2L C2CD3 DLEC1 DHCR7 PIGH TRMT10A RPGRIP1 KIAA0825 SETD5 HEPHL1 RPGRIP1L DYNC2I1 CIBAR1 EXTL3 PLAA LBR ALG3 TMEM67 DYNC2I2 TCTN1 CD96 LZTFL1 MKKS TTC21B B9D1 BMP4 B9D2 NEK1 KCNJ5 HOXD13 CSPP1 BBS2 TCTN2 PDE6D EVC LMBR1 WWOX ARID1B FREM1 TXNDC15 RNF6 IFT140 EVC2 TMEM237 CEP290 HP_DEVIATION_OF_THE_5TH_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVIATION_OF_THE_5TH_TOE ALG3 CHSY1 TGFBR2 PPP1R15B KCNJ2 CKAP2L DLEC1 SALL1 WWOX KCNJ5 PIGH TRMT10A RNF6 HEPHL1 HP_ABNORMAL_VENTRICULAR_SEPTUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VENTRICULAR_SEPTUM_MORPHOLOGY WNT4 NR2F2 NF1 PEX6 SURF1 GTF2I RNU4ATAC HDAC8 SATB1 MGP SIX3 ADA2 NUP107 KMT2D FGFR1 PDHA1 MYCN RTL1 MIR17HG RAB23 KANSL1 RERE C2CD3 OTUD6B CRB2 PPP2R5D ARSL UBR7 ZIC2 SPTBN1 KAT5 TNFRSF11A MYRF NAA10 GATA1 ANKRD11 TXNL4A PEX3 MAP2K1 XYLT2 ZEB2 PEX10 CDK13 PEX12 WDR37 FLNB COX7B MGAT2 NUP188 PLAGL1 KCNA1 CSGALNACT1 NXN ADAMTS10 PIGP TBL2 GPC4 RPS27 EP300 MEIS2 CWC27 NKX2-1 OTUD5 TRAIP ERBB3 FIG4 SATB2 FGFR2 IGBP1 CDKL5 PEX16 CASK RPS20 CCDC174 PORCN SHH NKX2-5 ARCN1 FOXF1 LARS2 PPP1CB CALM3 VAC14 ZNF699 NDUFC2 ROR2 MEG3 GPC3 DVL3 UQCRFS1 TACO1 ERCC2 EXT2 PQBP1 FGFRL1 LIPT1 SIK1 SLC19A3 RPS29 CACNA1D CPLX1 RPS10 NCF1 HYMAI SMN1 INSR ATRX RPL26 HCCS SMARCC2 PUF60 DNAJC30 HNRNPK DISP1 PEX19 DPH1 NDUFS8 BCR MYBPC3 FGF8 UBE2A FBN1 BCL7B GTF2H5 TASP1 RPS24 RAD21 TALDO1 CACNA1C SEC24C TBX1 DMXL2 ARID2 SPECC1L SOX2 ALKBH8 GDF1 RPL27 FANCI COMT TRIM8 JMJD1C YY1AP1 DYRK1A MPLKIP TCTN3 CDC45 UBR1 NSD1 PET100 SHOC2 ELN ARID1B WBP11 AKT3 NOTCH2 NIPBL GLI1 EIF4H TTC7A NDUFA12 PNKP HRAS NDUFS2 GLI3 NDUFS3 GATA4 SOS1 SEC31A COX15 NONO NEK1 JAG1 TMEM94 AFF4 RPL15 DHCR7 DLK1 MED13L SETD2 TBX5 TP63 MAP2K2 STIL BRD4 TARS1 BUD23 CCDC22 KAT6A NDUFA13 HIRA STAG2 GLI2 CLDN3 TFAP2B NDUFS7 RPS26 CREBBP IGF1R NKX2-6 LRP2 SOS2 RPL10 WT1 TBX3 EVC2 SMG9 GTF2E2 TBCK KAT6B RPL31 PEX2 ZNF462 SLC29A3 SETD5 SDHA GATA5 CANT1 FOXRED1 PIK3R2 CCND2 WAC TBC1D24 PEX14 PHGDH GYG1 ARVCF FOXC2 B3GLCT MYOCD CITED2 VPS13B NEK9 RREB1 TAB2 CEP57 LZTR1 WASHC5 NDUFAF5 TMEM270 RPS17 CDK8 LRP5 MMP2 ECHS1 STXBP1 SOX11 FIBP RPS28 RPS15A LONP1 ARHGAP31 STRA6 PIK3CA VIPAS39 BMP2 MEOX1 GTF2IRD1 RPL18 PEX1 DYNC2LI1 ESCO2 SPEN FADD FANCB CCDC32 RSPO2 RPL35 ESS2 PEX26 PIGQ NSD2 TCIRG1 RPL35A NFIX BCOR ZIC3 GLA SMC3 FANCC RARB SLC12A2 ABL1 TKT SCN1B PTPN11 DNAJC19 TSR2 RAC1 APC2 RRAS2 SLC19A2 NDUFA2 GATA6 MASP1 DPF2 LBR FTO RNF113A METTL27 PIGL DGCR8 GJA1 MTFMT CKAP2L CHD7 PSMD12 SMARCB1 WDR26 GNAO1 SALL1 UBE3B PEX5 SHANK3 LTBP2 RPL5 AMER1 ERCC3 NDUFB11 ECE1 SH3PXD2B TGDS KAT8 COG6 RFC2 ACVR2B BRAF SVBP TTC37 PAH POLA1 CRKL SMARCD1 TET3 SALL4 RPL3L SNRPB RBM8A MED25 SLC25A22 TGFB3 ARID1A LEMD2 PALB2 SOX4 RAI1 VPS33B CTBP1 HOXA13 UMPS SMAD4 NODAL PEX11B SEMA3E NOTCH1 CLIP2 GDF6 THOC6 EVC SCN2A ABHD11 EOGT EFTUD2 PKD1L1 ACADVL CEP290 DGCR2 LETM1 NEUROD2 SMARCE1 CCBE1 NDUFA9 NDUFAF6 LAT2 KDM6A STX1A IFT172 RPL11 SON DLL4 NDUFA10 B3GALT6 TMEM260 RPS19 NDUFV2 SMARCA4 MLXIPL CHRM3 EXOC2 RPS7 MED12 DGCR6 SMC1A NKAP ASXL1 MAPK1 BSCL2 MYPN NDUFV1 LIMK1 HYLS1 SIX6 MMP14 SF3B4 BAZ1B SKIV2L XYLT1 NDUFA4 NDUFS1 PACS1 ALG9 UFD1 ARX KDM3B FBN2 STAMBP GDF3 NOTCH3 DYNC2I1 PEX13 YARS1 TAPT1 FLI1 GTF2IRD2 GP1BB ALG12 DDX11 CD96 MKKS FKBP6 PLXND1 CHD4 CLDN4 PIEZO2 CHST3 MYL2 VPS37D BRF1 NDUFS4 SYNE1 MT-CYB CTU2 DSG1 GPC6 DTNA NDUFAF2 SMG8 IFT81 RIT1 KRAS HP_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYDACTYLY TCTN2 LMBR1 DYNC2LI1 MKKS KIAA0586 SIX3 COLEC10 SUFU ALX3 GLI1 BBS1 ARL6 FGFR1 FANCB KIF7 DDX59 HNRNPK EBP WDR19 RAB23 HESX1 HOXD13 MBTPS2 TCTN3 MMP23B C2CD3 CRB2 SH2B1 CEP41 ZIC2 SMOC1 CENPF TCTN1 SPEN RPGRIP1L CDKN1C EFNB1 BBS12 ARL13B SC5D POU1F1 TMEM237 B9D2 INPP5E GPC4 PTEN DYNC2H1 EP300 ZNF423 CBY1 ARL3 BBS10 OTUD5 BBS9 CTBP1 MKS1 FGFR2 RERE PRKCZ PLAG1 GLI3 DYNC2I2 TMEM231 SUCLG1 PORCN SHH TMEM67 SALL4 SMO LHX3 KIAA0753 BBS4 SCAPER ZNF699 CEP290 ZSWIM6 EFTUD2 GPC3 ADNP CFAP418 FGFRL1 DYNC2I1 NKX2-6 CPLX1 LBR MEGF8 B9D1 FOXA2 INSR BMPR1B CEP120 PUF60 PITX1 GDF5 GDF6 SALL1 DISP1 FAM149B1 FGF8 CD96 BBIP1 FLNA TXNDC15 TASP1 PTCH1 EVC2 IFT52 CHN1 GATA6 SEC24C PURA LZTFL1 SMAD6 AHI1 COMT TMEM138 INTU JMJD1C CDC45 WDR35 CHSY1 AKT3 CIBAR1 ABCA12 STAG2 HMGA2 PROP1 NEK1 PIK3CA CCND2 PPP2R1A DHCR7 UBE4B BBS2 STIL CDCA7 CCDC22 HOXA13 SETBP1 HIRA PIBF1 EVC GLI2 DACT1 TFAP2B CREBBP PTCH2 TBX1 CC2D2A LHX4 SETD5 TMEM216 PHF8 SYNGAP1 TTC21B H19 HSPG2 TBX3 PLAA SDCCAG8 CPLANE1 RBM10 USP9X EXTL3 CSPP1 PIK3R2 IGF2 FGF10 ARVCF LETM1 BBS5 ARMC9 RREB1 PDE6D WASHC5 TRIM32 CEP19 PDPN CILK1 NSD2 GJB6 TFAP2A MAFB RAI1 DEAF1 HYLS1 NPHP3 OFD1 BBS7 FLII IFT80 IFT27 NPHP1 IFT43 BMP4 NELFA PRKACA CCDC28B FBLN1 CEP104 ZNF141 BLM GJA1 IFT74 CHD7 IQCE WDPCP TMCO1 BHLHA9 TOGARAM1 KIAA0825 LUZP1 TTC8 AFF3 COG6 DYNLT2B IFT172 NEU1 IFT140 PIGG NKX2-5 TMEM107 PRKACB SEMA3E ZIC3 KIF3B ACOX1 TRAF3IP1 RPGRIP1 WNT7A NCAPG2 KCNAB2 FANCD2 UQCC2 TGFBR1 KATNIP NEK9 IQSEC2 SKI UFD1 OTX2 CASZ1 PRDM16 IFT57 FLI1 TGFBR2 FGFR3 GP1BB DYRK1A PNPLA6 CTU2 CHST11 TWIST1 CEP164 GABRD IFT81 HP_PULMONARY_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_INSUFFICIENCY DNAL1 TERC SFTPA2 GNPTAB RTEL1 COL1A2 ADA SFTPA1 FAM13A DSP DPP9 MUC5B COL1A1 TERT ATP11A KIF20A EFEMP2 INVS STN1 SFTPC FOXF1 PARN ABCA3 LEMD2 HP_TRICUSPID_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRICUSPID_STENOSIS FBN1 ADAMTSL2 RPS19 CHST3 MYCN HP_ANAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANAL_FISTULA KDM6A TGFB1 KMT2D PKP1 SYK MNX1 HP_ESOPHAGEAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESOPHAGEAL_STENOSIS MYH11 NHP2 PGM3 DKC1 TINF2 COL7A1 NOP10 TERT COL4A5 CTC1 SAMD9 IKZF1 HLA-B NPM1 LAMA3 PARN MMP1 RTEL1 FERMT1 LAMB3 WRAP53 TERC USB1 COL4A6 LAMC2 ACD HP_APLASIA_HYPOPLASIA_OF_THE_SPLEEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_SPLEEN SPEF2 TMEM107 NPHP3 TMEM216 DNAI2 CCDC39 GDF1 STRA6 CFAP221 DNAH1 MKS1 NODAL TMEM231 TWIST1 ODAD2 RSPH4A DNAAF6 MYCN DNAAF2 MNS1 ODAD3 CCDC32 DNAH9 RSPH9 CC2D2A MCM10 FOXF1 TCTN3 MCIDAS STIM1 DNAH11 DNAAF3 CCDC40 CCDC103 WNT3 RPGRIP1 RPGRIP1L DNAAF4 TTC12 ZIC3 TMEM67 DNAAF1 GAS8 DNAJB13 TCTN1 B9D1 CFAP300 B9D2 RSPH1 AIRE ZEB2 DNAAF5 SAMD9 CCNO DRC1 CCDC65 CSPP1 FOXJ1 OFD1 SPAG1 ZMYND10 TCTN2 DNAI1 NME8 NEK10 ODAD1 FAM111A DNAH5 ODAD4 RPGR NEK8 RSPH3 TXNDC15 ORAI1 DNAAF11 CFAP298 LRRC56 HYDIN RPSA DNAL1 RELN STK36 TMEM237 GAS2L2 CEP290 HP_ACETABULAR_SPURS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACETABULAR_SPURS DYNC2I1 EVC COL2A1 EVC2 DYNC2H1 HP_ABNORMAL_GREATER_SCIATIC_NOTCH_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GREATER_SCIATIC_NOTCH_MORPHOLOGY FGFR3 GPX4 EXTL3 TRPV4 SRP54 COL11A1 GUSB DYM ALG9 PCYT1A SLC26A2 COL2A1 CFAP410 SBDS GPC3 GPC4 DNAJC21 INTU DDRGK1 HP_FEMALE_PSEUDOHERMAPHRODITISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEMALE_PSEUDOHERMAPHRODITISM GRIP1 CYP19A1 FREM2 NR3C1 SPECC1L CD96 FRAS1 HP_TRUE_HERMAPHRODITISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRUE_HERMAPHRODITISM NR5A1 TMEM107 TMEM67 TMEM216 CC2D2A TCTN2 TCTN1 TCTN3 SRY B9D1 B9D2 MKS1 TMEM231 TXNDC15 RPGRIP1 RPGRIP1L CSPP1 WT1 SOX9 TMEM237 CEP290 HP_ABNORMALITY_OF_THE_FEMALE_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FEMALE_GENITALIA ATR PPARG RAD51D COL1A1 MKKS PALB2 BUB1B SUFU F7 HERC2 FLI1 SEMA3A FMR1 BBS1 NR5A1 KISS1 FOS NDP ANOS1 FH LIPE RPS6KA3 TNXB DHH DHCR24 PIK3CA MYRF DHX37 AGPAT2 SPEN PEX3 SMAD3 BRCA1 ZEB2 RBM8A NUP107 PEX12 FGF8 MSH2 NXN LMNA MSH6 MRE11 DYNC2H1 ERCC4 RAC3 SDHC AKT1 GRIP1 PHKG2 PIGN FIG4 TP63 BBS9 MKS1 PRKCZ MSH3 TACR3 CHEK2 SEMA4A PARN STAT6 NDN PEX5 POLG CDH23 SCAPER VAC14 CEP290 MAP3K1 CTCF ROR2 CDT1 RARB BMPR1A PROK2 DCC SOX9 NCF1 FGF17 FOXL2 HYMAI INSR CLPP AKT2 CDKN1B ITGA8 PEX19 SETBP1 SNRPN MDM2 CD96 BCL7B GREB1L PTCH1 ATM MLH1 UBE3B BMP15 CYP11A1 BUB1 COMT FLT1 POLG2 DVL1 BRCA2 CEP152 FGFR2 POR TP53 CDC45 WDR35 DMPK POLD1 ORC4 SRY ELN MAGEL2 IL17RC RSPO1 GLI1 EIF4H SPRY4 RAB18 NIN FLRT3 NTHL1 PPP2R1A POLR1B ECEL1 FGFR1 BRD4 BUD23 SDHD HIRA SNORD116-1 B4GALNT1 DACT1 CLDN3 CDH1 PMM2 TBX1 IQCB1 FANCB AR HSPG2 SDCCAG8 KAT6B NBN CDC73 PDE4D PWRN1 WT1 SMAD4 SPIDR CFAP418 DUSP6 MKRN3 DCAF17 PWAR1 CYP17A1 POLR1C PHGDH ISL1 IL10RB FAS TWIST2 TMEM270 TRIM32 CEP19 PDPN CXCR4 NR2F2 RAD51C UBR1 SIM1 GATA4 SALL4 KEAP1 BUB3 STRA6 HS6ST1 PTEN RIPPLY2 PEX1 HYLS1 DYNC2LI1 SLC25A24 ESCO2 RAB3GAP2 BBS12 CHRNG PEX26 CYP11B1 FGFR3 NPHP1 PROKR2 MESP2 TCOF1 SLX4 IFT80 FSHB AIP BMP4 POF1B PRKAR1A BBS5 BBS7 KISS1R METTL27 TGFBR1 VAMP7 SOX10 ARID1B BRIP1 KIF7 TSC1 PPP1R12A CDC6 RPS20 CYB5A NDUFB11 SPECC1L PRLR SLC37A4 NR0B1 LUZP1 OCA2 DIAPH2 RFC2 WNT5A AIRE UBE2T B3GLCT USP8 IL17F GALT IFT172 RAD51 USF3 ORC6 AARS2 PLIN1 SRC AURKA ZPR1 HCCS RASGRP1 CLIP2 THOC6 EVC FANCE ERAL1 ABHD11 LETM1 CASP10 FANCI COL3A1 STX1A EIF2B1 CORIN WDPCP FREM1 SLC35A2 HES7 COL5A1 ESR1 FANCL EPCAM SETD2 OFD1 BRAF MMP14 SDHB NOBOX NDNF ALG9 UFD1 PMS1 WDR11 RIPK4 SMC3 DICER1 NR3C1 PTPN12 WRAP53 SMC1A GTF2IRD2 TBX6 ESR2 GP1BB TTC8 AXIN1 BLM ANAPC1 VPS37D FASLG RELA PCNT MSX1 IDH2 PLA2G2A PAX3 TCTN3 EIF2B3 FSHR FANCD2 SF3B4 WNT7A GNRH1 HOXA13 PEX6 GTF2I HDAC8 GALK1 LFNG WNT10A HNF1B ARL6 RAB3GAP1 TERT HOXD13 DDB1 MMP23B RSPO2 SOX3 ANTXR2 CAVIN1 MRPS22 NHP2 TGFBR2 PTPRJ EWSR1 PMS2 PEX10 CCND1 ATIC FREM2 DLC1 COX7B MLH3 PLAGL1 TBL2 DMRT3 RFWD3 AXIN2 NPHP4 KLLN CLEC7A FIGLA TRAIP CCDC141 TBX15 BNC1 RERE PEX16 FLCN WNT4 DKC1 PAX6 RET TRAF3IP1 ALMS1 PALLD DVL3 HFM1 FGFRL1 WWOX CPLX1 GATA3 SPINT2 IRF6 TINF2 COL4A5 DNAJC30 GMNN SALL1 CDKN2A HESX1 ADH5 COL5A2 CHD7 BBIP1 PTPN11 POC1A PSMC3IP RAD21 TALDO1 CCNQ SEC24C LZTFL1 POLR1D CTNNB1 JMJD1C ORC1 NAB2 MCM8 BARD1 PHKA2 TRAF3IP2 ZFPM2 NIPBL LMNB2 RIN2 GLI3 IDH1 NSUN2 SMCHD1 PLG FANCA STK11 COL7A1 DHCR7 PRKN UBE4B MYH3 C14orf39 PORCN PDGFRL NSMF BSCL2 FGF10 PTCH2 TSC2 LRP2 LHB INVS TBX3 EVC2 CREBBP PEX2 FAN1 WNT3 HSF2BP ZFTA BMPR1B WDR19 FANCF PEX14 ARVCF CAPN15 MYC CTC1 FEZF1 RREB1 FZD2 EP300 BBS4 BBS2 KRAS MAMLD1 TAC3 MMP2 GAD1 RNF43 LONP1 ARHGAP31 GTF2IRD1 SLC6A17 TERC FOXF1 NSD2 ACTB LEP IFT27 LEPR DYNC2I1 BCOR TBC1D20 CCDC28B DYNC2I2 EIF2B5 NRAS MCM3AP SEMA3E RECQL4 KIF14 IFT74 JAK3 OPCML GREM1 CYP19A1 LARS2 XRCC2 DLL3 APC MEN1 TTI2 FGF20 TOE1 NOP10 ZMPSTE24 GNAS COL4A6 INTU SMARCA2 HNF1A SRD5A2 EIF2B2 RAD54B FANCC RCBTB1 IL17RA SOHLH1 DMRT1 NPM1 HSD3B2 HARS2 NPHP3 STAG3 MAD2L2 ERBB2 CTBP1 PEX11B WRN MTM1 POLR3H IL17RD GNRHR RABL3 TLR2 LAT2 KCNAB2 MINPP1 CBX2 STOX1 MCC CHRM3 TWNK LIMK1 SKI FRAS1 BAZ1B CEP164 FDXR BAX LIG4 SEC23B RTEL1 CEP57 CASZ1 PRDM16 MNX1 PEX13 USB1 EIF2B4 CAV1 RAD50 POLE PRKCD FKBP6 CLDN4 NPAP1 TRIP13 FANCG MLXIPL MT-CYB CIDEC GABRD SNORD115-1 FANCM BBS10 HP_APLASIA_HYPOPLASIA_OF_THE_OVARY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_OVARY GNRH1 FIGLA PMM2 DHH GATA4 FSHR LZTFL1 CHD7 ZPR1 LARS2 PPP1R12A TP63 BBS9 AR TACR3 BBS1 ARL6 HS6ST1 ALG9 SDCCAG8 ERAL1 MCM8 KISS1 NUP107 SOX9 SCAPER BBS12 PAX6 POLR3H WT1 CEP290 GNRHR NR5A1 LEP SPIDR ZFPM2 WWOX IFT27 CFAP418 DUSP6 LEPR MKS1 NPHP1 PROKR2 BMP15 PROK2 SPRY4 TTC8 FGF17 MRPS22 FOXL2 WDPCP MAP3K1 BNC1 NR0B1 SRY DHX37 FGF8 C14orf39 KISS1R WDR11 IFT172 FGFR1 SETBP1 BBS5 BBS7 DCAF17 HARS2 BBS4 BBS2 TRIM32 BBIP1 MKKS VAMP7 TAC3 PTPN11 DMRT3 CEP19 NDNF IFT74 NSMF BBS10 PSMC3IP HP_STREAK_OVARY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STREAK_OVARY FIGLA DHH GATA4 FSHR PPP1R12A MRPS22 FOXL2 MAP3K1 BNC1 NR0B1 SRY DHX37 ERAL1 SETBP1 NUP107 SOX9 DCAF17 PAX6 WT1 POLR3H HARS2 NR5A1 VAMP7 DMRT3 SPIDR ZFPM2 WWOX BMP15 PSMC3IP HP_PRECOCIOUS_PUBERTY_IN_FEMALES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRECOCIOUS_PUBERTY_IN_FEMALES CYP17A1 FOS PPARG AGPAT2 CAV1 BSCL2 ALMS1 CAVIN1 HP_ABSENT_TESTIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_TESTIS FANCF DHX37 XRCC2 FANCB FANCC SLX4 FANCA UBE2T BRCA2 GDF6 FANCG FANCE FANCL RAD51 BRCA1 TCTN3 BRIP1 FANCD2 RFWD3 FANCM ERCC4 PALB2 FANCI MAD2L2 RAD51C HP_OLIGOSACCHARIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIGOSACCHARIDURIA MAN2B1 MIR140 OCRL GAA NEU1 FUCA1 MANBA SNX14 GLB1 HP_ABNORMAL_CIRCULATING_PORPHYRIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_PORPHYRIN_CONCENTRATION ALAD ALAS2 PPOX GATA1 CPOX UROD FECH UROS HP_PORPHYRINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PORPHYRINURIA CPOX HFE PPOX GATA1 UROS SLCO1B3 HMBS SLCO1B1 HP_APLASIA_HYPOPLASIA_OF_THE_BLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_BLADDER WNT4 ITGB4 LAMB3 MBTPS2 ITGA6 MKS1 FREM2 GRIP1 LAMC2 ALG9 LAMA3 PLEC HP_URETHRAL_VALVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETHRAL_VALVE SRCAP CHRM3 HPSE2 BNC2 NSD1 SALL1 DACT1 IGF2 SETD2 APC2 HP_ABNORMALITY_OF_THE_HYPOTHENAR_EMINENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_HYPOTHENAR_EMINENCE FGD4 GMPPA TRAPPC11 AAAS RPL11 HP_APLASIA_HYPOPLASIA_OF_THE_PALMAR_CREASES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_PALMAR_CREASES NALCN RAPSN RIPK4 SLC39A13 MUSK PLOD3 AUTS2 NUP88 DOK7 PIEZO2 MYH3 SLC18A3 MYOD1 CHST14 DSE HP_ABSENT_PALMAR_CREASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_PALMAR_CREASE MYH3 PIEZO2 NALCN SLC18A3 RAPSN RIPK4 SLC39A13 MUSK MYOD1 NUP88 DOK7 HP_SIRENOMELIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SIRENOMELIA PTEN TBC1D24 GREB1L AKT1 FGF20 DACT1 ATP6V1B2 RET ITGA8 HP_PATELLAR_SUBLUXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATELLAR_SUBLUXATION COL12A1 YY1 USP9X FBN2 TBC1D7 HP_HYPEREXTENSIBILITY_OF_THE_KNEE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPEREXTENSIBILITY_OF_THE_KNEE SKI AP4B1 XYLT1 CANT1 CTDP1 CDT1 COMP PTEN SH3PXD2B AP4M1 GRIA3 COL5A1 AP4E1 MCOLN1 FBN1 TRIP11 NRAS MEFV WASF1 KRAS FGD1 COL1A2 FGFR3 B4GALT7 HRAS AP4S1 TNFRSF1A ANO5 SLC6A9 LMX1B HP_LIMITATION_OF_KNEE_MOBILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITATION_OF_KNEE_MOBILITY FLNC FLNA VCP GABRG2 STX1B ADGRV1 ATP7A STXBP1 GABRA1 SCN2A HGD SCN9A MAP3K7 TOR1A COL9A3 COL2A1 SCN1B GABRD SCN1A EXT1 DYM FBN2 MYOT GPC6 EZH2 DPYSL5 CSGALNACT1 HCN1 PCDH19 DYSF EXT2 HP_FIBULAR_BOWING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FIBULAR_BOWING COL11A2 CYP2R1 SLC34A3 CLCN5 FGFR3 PHEX VDR CYP27B1 HP_LIMITATION_OF_MOVEMENT_AT_ANKLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMITATION_OF_MOVEMENT_AT_ANKLES MAP3K7 FLNA UBE3A NIPA1 LMNA OCA2 MYH7 ZMPSTE24 HP_METATARSUS_VALGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METATARSUS_VALGUS PTEN DAG1 AKT1 B3GALNT2 SIL1 INPP5K LARGE1 FKTN POMT2 CRPPA RXYLT1 POMT1 BMPR1B GDF5 FKRP POMGNT1 POMGNT2 B4GAT1 TGDS COL4A1 HSPG2 POMK HP_LONG_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_TOE FIBP MEG3 CPT2 LARS1 FAM20C NPR2 GNE IRX5 RTL1 KCNH1 POLR3A COL12A1 PRKAR1A ZEB2 TBX4 TMEM94 GATAD2B PHF8 NSDHL DPM1 SMS POLR3GL PTH1R B4GALT7 KCNN3 XYLT2 COL6A3 PUF60 FBN1 PAPPA2 DLK1 SCARF2 FLI1 COL6A2 COL6A1 SOX5 HP_HYPERPITUITARISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPITUITARISM GATA4 NR5A1 FSHR FOXL2 CYP11A1 MEN1 SLCO2A1 FMR1 CNBP DHH CFTR CDKN2B ABCD1 KISS1R MCM8 HSD17B4 NUP107 CDKN1B GPR101 SMARCB1 POLR3H C14orf39 ZFPM2 AKT1 TEX14 BAP1 FGD1 MSTO1 CTNNB1 BNC1 AIP POLA1 PIK3CA NF2 TSHB SMARCE1 ESR1 TDRD9 WT1 SRY SOHLH1 VAMP7 DMRT3 MCM4 CYP17A1 BRAF SMO GDF9 FIGLA PMM2 PDGFB NSMCE2 LARS2 FANCM TERT NANOS1 XRCC2 CBX2 AR MEIOB POLR3A TEX15 ZMYND15 TAF4B ERCC6 CDH23 CYB5A SOX9 GNAS HFM1 SPIDR ESR2 WWOX BMP15 TRAF7 TRHR SYCE1 HPGD CDKN2C PRKAR1A PRLR MRPS22 DHX37 POR MAP3K1 NR0B1 CDKN1A SUFU HSD3B2 CFAP47 TEX11 KLHL10 PPP2R3C SYCP3 LHCGR STAG3 PSMC3IP HP_APLASIA_HYPOPLASIA_OF_THE_THYMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_THYMUS TBX1 SEC24C SKIV2L RORC POLR1C RAG1 TCOF1 NKX2-6 POLR1D ARVCF COMT PLXND1 ATM TP63 SEMA3E TTC37 WIPF1 JMJD1C DCLRE1C UFD1 WAS IL2RG POLR1B PEX5 NEK9 RAG2 MCM10 NSMCE3 RREB1 TTC7A HIRA ADA AK2 G6PC3 GP1BB ANTXR2 CHD7 HP_THYMUS_HYPERPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THYMUS_HYPERPLASIA PTEN MTHFR AKT1 VANGL2 ALG14 HP_DYSLEXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSLEXIA SARDH TMEM106B PSEN1 JRK DNAAF4 MAPT TREM2 MAP1B PNKP CHMP2B GCLC C9orf72 GABRB3 GRN GABRA1 SQSTM1 APC GABRG2 CACNA1H SLC2A1 OPA3 PLA2G6 VPS41 STIM1 VPS13D VCP SPTBN1 HP_ALEXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALEXIA MAPT GRN TREM2 TMEM106B C9orf72 CHMP2B VCP PSEN1 HP_AGNOSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGNOSIA PIK3CA TGFBR2 SORL1 ABCA7 TOMM40 MAPT BMPR1A APP MLH1 TREM2 TYROBP PMS2 ATP6AP2 CHMP2B SEMA4A PSEN1 PMS1 C9orf72 TMEM106B MLH3 KRAS RPS20 EPCAM MSH2 GRN PSEN2 FAN1 ABCD1 MSH6 CEP85L APOE HP_FINGER_AGNOSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FINGER_AGNOSIA SORL1 ABCA7 PSEN1 TOMM40 APP TREM2 PSEN2 HP_DYSGRAPHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSGRAPHIA PSEN1 BAZ1B GTF2I ABCA7 TOMM40 MAPT BMPR1A MLH1 GTF2IRD1 CLIP2 SEMA4A PMS1 C9orf72 TMEM240 TMEM106B SQSTM1 ABHD11 KRAS RPS20 ELN PSEN2 FAN1 GTF2IRD2 MSH6 EIF4H SOX6 LAT2 PIK3CA FGF14 TGFBR2 SORL1 STX1A NCF1 RFC2 APP TREM2 FKBP6 PMS2 CLDN4 DNAJC30 VPS37D CHMP2B MLXIPL GRN MLH3 BUD23 EPCAM MSH2 SPG21 TMEM270 VCP METTL27 BCL7B TBL2 LIMK1 CLDN3 HP_ECHOLALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECHOLALIA PLEC TMEM106B PSEN1 HERC2 TCF4 ACTB RAI1 COL1A2 SLC35C1 KRAS TREM2 ATP6AP2 SMARCA2 NDUFB11 HCCS NAGS ACTG1 UBE2A EHMT1 GRN SQSTM1 ADAMTSL2 COX7B CHMP2B SLC25A13 AMER1 MAPT FLCN C9orf72 COL1A1 CKAP2L ADAMTS2 PUF60 SLITRK1 HDC FGFR1 VCP SPTBN1 HP_TRANSIENT_GLOBAL_AMNESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRANSIENT_GLOBAL_AMNESIA TRAF7 PDGFB MEN1 P2RY11 SMARCB1 BAP1 CTSH TERT YY1 ZNF365 MOG TNFSF4 HLA-DQB1 PIK3CA NF2 SMO HCRT HLA-DRB1 SMARCE1 SUFU AKT1 HP_SLEEP_APNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLEEP_APNEA SIM1 NEFH RERE COLQ GNPTAB CCDC47 DCTN1 AHDC1 NGLY1 BMP2 HERC2 TRPV4 SLC18A3 ARL3 DNA2 LRRC32 VPS51 PRPS1 DKK1 PCGF2 DMPK SH3BP2 GPR101 DDB1 SNAP25 CHAT C2CD3 PIGT IDUA MAGEL2 RUNX2 SYT1 IDS PLCB4 FXR1 EDN1 HRAS FGFR2 RET CREBBP AGRN CTNNB1 SNRPN AFF4 FGFR3 AIP GABRG2 MYO9A EXOC2 SNORD116-1 COQ2 EP300 PHOX2B BRAF ATN1 TCF4 LARP7 TSPYL1 GNAI3 SATB2 USP7 MED27 NALCN LRPPRC NDN NADK2 P4HTM NFIX VAMP1 ARCN1 PWRN1 ASCL1 UNC80 COL13A1 MKRN3 GNE PWAR1 SPOP NONO SKI SOD1 OCA2 RAI1 ASXL1 TERT COL3A1 SRPX2 NPAP1 GSN DPH1 SYT2 TWIST1 LAMB2 FLCN CEP57 RPS6KA3 SLC25A1 PRMT7 GRIN2A SLC5A7 LTBP3 POGZ SNORD115-1 PRPH HP_CENTRAL_SLEEP_APNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_SLEEP_APNEA SIM1 RET COQ2 CCDC47 USP7 AGRN NGLY1 SLC18A3 PRPS1 DKK1 LRPPRC SYT2 MYO9A NADK2 VAMP1 FGFR3 MAGEL2 ASCL1 SNAP25 SLC25A1 CHAT PIGT SLC5A7 COL13A1 PHOX2B HP_WIDE_CRANIAL_SUTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDE_CRANIAL_SUTURES CYP2R1 ACE BANF1 DCHS1 AGTR1 FIG4 VDR POLR3A LMNA SLC34A3 CYP27B1 PEX1 FAT4 AGO2 REN MMP2 VAC14 SETBP1 RBM10 MSX2 ALDH18A1 MED12 ALPL ZMPSTE24 CRTAP AGT HP_OPSOCLONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPSOCLONUS KIF1B CLCN7 TNFSF11 TMEM240 TCIRG1 SNX10 GBA HP_VERTICAL_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERTICAL_NYSTAGMUS TTBK2 CACNA1A SCN1A MRE11 COQ2 PEX5 PIGN AHDC1 ATP1A2 PRRT2 PIGQ PLA2G6 PET100 ANO10 HP_MUSCLE_FIBRILLATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_FIBRILLATION NDUFS4 CACNA1A SCN1A VCP CCNF SLC25A21 RYR1 SLC52A3 SMN1 GARS1 TFG EXOSC3 DNM2 ASAH1 ATXN3 BIN1 AIFM1 ADPRS NOP56 VWA1 DYSF SH3TC2 CHCHD10 TSPYL1 AGTPBP1 FXR1 SLC52A2 TRAK1 HSPB1 KCNK9 IFRD1 SMN2 TBCD HINT1 UBA1 ATP1A2 MYF6 PRRT2 RMND1 MTMR14 OPTN HP_MUSCLE_FLACCIDITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_FLACCIDITY PLEC GABRA3 SCN4A CACNA1S LAMP2 UBE3B PEX6 SIL1 INPP5K COL1A2 COL1A1 KCNJ2 KCNJ5 KCNE3 PEX1 KCNJ18 HP_PERCUSSION_MYOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERCUSSION_MYOTONIA CLCN1 HINT1 CAVIN1 SVIL CAV3 SCN4A DNAJB6 HP_WEAKNESS_DUE_TO_UPPER_MOTOR_NEURON_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEAKNESS_DUE_TO_UPPER_MOTOR_NEURON_DYSFUNCTION KLC2 SARDH OPA1 PRDM8 LMNB1 SLC25A15 GBE1 SURF1 CFH WASHC5 COL3A1 ARNT2 HLA-DPA1 SEMA3A L1CAM RTN2 PLP1 EIF2S3 MT-ND6 ADAR TTR GJB6 AP4E1 MT-CO2 SELENOI PNPLA6 GALC PGAP1 MT-TV CCT5 ENG SLC18A2 ANOS1 MMP23B VAMP1 CCR1 SPG11 TRAPPC4 AP4S1 ALS2 FARS2 RHOBTB2 PIK3CA TGFBR2 FAS CYP26C1 SPEN VCP MT-TS2 MAN2B1 KRAS PMS2 APOA1 MRM2 NAXE MTRFR ZFYVE26 MMUT TPP2 KIF5A GJB2 IFIH1 ZFYVE27 IFT140 STXBP1 SAMHD1 MLH3 TECPR2 FGF8 TREX1 MECP2 SLC16A2 AIPL1 MSH2 CARS2 GIPC1 CPT1A ATL1 LIPT2 GUCY1A1 CACNA1A GABRA3 PDGFB WDR4 PDHX TACR3 PROKR2 GAN ARG1 CCDC141 ATP1A2 GPT2 RERE PRKCZ SLC35A2 BAP1 SLC19A3 SEMA4A PNPLA8 ADA2 CYP7B1 IQCB1 AP5Z1 NDUFA8 DOCK8 NF1 STAR IDUA RDH12 MT-TW STAT4 MTOR TACO1 AP4M1 ERCC2 HSPD1 AFG3L2 SLC2A1 LIPT1 ZFR CACNA1D TFG FA2H MRAP MT-TL1 TGFBR3 FAR1 SLC25A10 KIF1A PPOX OSGEP PDGFRB PSAP ERLIN2 RNASEH2B ERAP1 PROK2 C19orf12 SOX3 CAPN1 NDUFS8 MT-TC HESX1 REEP2 DSTYK TP53RK ENTPD1 GTF2H5 LCA5 FGFR1 CCDC88C NMNAT1 TUBB2B L2HGDH IL23R ATP6AP2 PSAT1 GBA2 PRPS1 SUOX POMT1 RNF216 MPLKIP BSCL2 SDHAF1 MT-TF NPPA CEP290 PET100 ANGPTL6 GBA TTPA RANBP2 KDM5C COL4A2 SETX LMX1B NDUFA12 SQSTM1 NDUFS2 NUP107 HLA-DQB1 NDUFS3 KIDINS220 FLRT3 SRPX2 GJA1 COX15 SLC30A10 MT-TK NUP62 SOX2 TBC1D24 WDR48 IRAK1 PRNP DNM1L UBE4B TULP1 WDR45 ARX TARS1 GOT2 NDUFA13 CFHR3 SCN1A FKRP MT-TS1 REEP1 SPG7 ARFGEF2 AASS NDUFS7 SMO ALDH18A1 AIFM1 AUH AP4B1 HPDL ATP1A3 TLR3 VPS37A IL10 LYST HSPG2 DLL4 TBCD CYP2U1 CRX RRM2B POLR3GL GTF2E2 MICOS13 C9orf72 FKTN NUP133 AIMP1 SDHB FAN1 KCNJ6 SDHA PEX16 GJC2 USP8 SLC1A3 NOTCH1 FOXRED1 KY BCAP31 ATP13A2 MT-TQ CLTC TOE1 TRAPPC2L UCHL1 SPAST INTS8 FEZF1 POLG GNAQ LIMS2 ATP6V1A TSC1 NDUFAF5 CTLA4 OPA3 PRRT2 CTC1 PDPN ECHS1 SPRY4 HPRT1 TBK1 PNP BTD APOE SDHD CFHR1 NEK1 GAD1 TENT5A FUS ENPP1 BMPR1A MLH1 HS6ST1 UBAC2 RBPJ MEOX1 EOGT USP45 NAGS EARS2 MARS1 CHCHD10 KCNJ18 COA8 DYM UBAP1 MEFV PRF1 LRP4 KLRC4 GDF6 EDNRB MTHFR LAMB1 TRMT10A C4A AKT1 PTEN BCOR POMGNT1 SPATA7 B3GALNT2 DNASE1L3 LRAT TARDBP SNORD118 TNFRSF11A POLR3K SPART TPRKB PAX3 IMPDH1 NDUFA2 CHD7 GM2A RASA1 MAG CPT1C RNF113A SOX10 TLR4 LYRM7 MT-TH MTFMT WDR62 NOTCH3 TTC19 ABCA1 NHLRC2 DUSP6 PHACTR1 NIPA1 FGF17 MT-ND5 MFSD2A PAH NAGA CBS MT-CO1 RPS20 WDR45B IBA57 MC2R ERCC3 PPP1R15B ABCC6 CRB1 COL4A1 NT5C2 IL12A-AS1 MED13L SMARCB1 ARL6IP1 LUZP1 THSD1 SPOP AGTPBP1 TRAF7 CACNA1S IKBKG AFF3 HLA-DPB1 LAGE3 GMPPB MOCS1 RD3 MT-ATP6 SUFU HINT1 ALG3 PDHA1 NNT CYP27A1 SP110 MT-ND4 LARGE1 PCYT1A HSD17B10 ABCD1 KDELR2 PRTN3 DDHD2 RNASEH2C KCNJ13 PRUNE1 PAFAH1B1 NADK2 MTPAP RAB3GAP2 COASY ARSI FUZ EXOSC8 NF2 SCN5A GSS RNASEH2A IL17RD CKAP2L DCC MSH6 ADGRG1 TXNRD2 NDUFA9 NDUFAF6 MBTPS2 PHYH KCNAB2 AMPD2 HLA-B PEX3 FLRT1 SAMD9 NDUFA10 B3GALT6 SMARCAL1 PSEN1 NDUFV2 SMARCE1 MT-ATP8 MT-ND1 ARSA NEXMIF EPCAM SMC1A AKT3 POMT2 SPP1 NDUFV1 SKI PLA2G6 HMGCL ARHGAP31 WDR73 NDUFA4 TERT NDNF MT-CO3 B4GALNT1 UGP2 OTX2 NDUFS1 PEX7 GJB1 IL12A SLC12A6 TP53 PMS1 KCNT1 PI4KA WDR11 CASZ1 STAMBP PRDM16 GDF3 KCNQ2 SLC33A1 SOD1 HACE1 SOX4 RPE65 TSC2 MT-CYB PTPN22 ATRX RPGRIP1 DOCK6 DDHD1 FBLN1 NDUFS4 DPYD ASAH1 NDUFAF2 TBCE GABRD PNKP GUCY2D SPG21 HP_PARAPLEGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARAPLEGIA KLC2 OPA1 SURF1 WASHC5 HS6ST1 SEMA3A L1CAM RTN2 PLP1 NAGS TTR AP4E1 MARS1 SELENOI PNPLA6 PGAP1 UBAP1 CCT5 ANOS1 VAMP1 LAMB1 AP4S1 ALS2 AP5Z1 FARS2 PROKR2 ERLIN2 MAN2B1 MTRFR ZFYVE26 KIF5A ZFYVE27 STXBP1 HPDL TECPR2 FGF8 MECP2 SLC16A2 SPART PAX3 NDUFA2 CHD7 RASA1 MAG CPT1C GIPC1 SOX10 CYP2U1 ATL1 MTFMT REEP1 DUSP6 TACR3 GAN CCDC141 GPT2 NIPA1 FGF17 PAH CYP7B1 WDR45B PDHX IBA57 TACO1 AP4M1 HSPD1 NT5C2 SLC2A1 LIPT1 ARL6IP1 ZFR SLC19A3 CACNA1D FA2H KIF1A RNASEH2B PROK2 C19orf12 CAPN1 NDUFS8 HESX1 REEP2 DSTYK ENTPD1 PDHA1 SP110 FGFR1 ABCD1 VCP DDHD2 GBA2 RAB3GAP2 ARSI MT-ATP6 FUZ IL17RD CKAP2L PET100 GBA KDM5C DCC SETX NDUFA9 NDUFA12 NDUFAF6 NDUFS2 NDUFS3 KIDINS220 FLRT3 COX15 AMPD2 PEX3 ATP13A2 FLRT1 SAMD9 NDUFA10 B3GALT6 WDR48 DNM1L NDUFV2 NDUFA13 NDUFV1 SPG7 TFG NDUFS7 ALDH18A1 BSCL2 AP4B1 NDUFA4 SLC25A15 NDNF VPS37A B4GALNT1 NDUFS1 LYST WDR11 SLC33A1 HACE1 SDHA GJC2 USP8 FOXRED1 AIFM1 ATRX KY GBE1 TOE1 UCHL1 SPG11 SPAST DDHD1 INTS8 FEZF1 NDUFS4 NDUFAF5 NDUFAF2 ECHS1 SPRY4 SPG21 HP_PARAPLEGIA_PARAPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARAPLEGIA_PARAPARESIS KLC2 OPA1 FUS SLC25A15 SURF1 WASHC5 HS6ST1 FAR1 SEMA3A L1CAM RTN2 PLP1 NAGS TTR AP4E1 MARS1 CHCHD10 SELENOI PNPLA6 GALC PGAP1 SLC30A10 UBAP1 CCT5 ANOS1 VAMP1 SPG11 EDNRB MTHFR LAMB1 TRMT10A AP4S1 ALS2 AP5Z1 FARS2 PROKR2 BCOR ERLIN2 VCP MAN2B1 MTRFR ZFYVE26 ARG1 KIF5A IFIH1 ZFYVE27 STXBP1 HPDL TARDBP SAMHD1 TNFRSF11A TECPR2 FGF8 MECP2 SLC16A2 SPART PAX3 NDUFA2 CHD7 RASA1 MAG AFG3L2 CPT1C GIPC1 RNF113A SOX10 CYP2U1 ATL1 GJA1 MTFMT WDR45 REEP1 TTC19 DUSP6 TACR3 GAN CCDC141 GPT2 SPG7 NIPA1 FGF17 PAH CYP7B1 WDR45B PDHX IBA57 ERCC3 RNASEH2B PPP1R15B NF1 TBK1 IDUA TACO1 AP4M1 ERCC2 HSPD1 NT5C2 MED13L SLC2A1 LIPT1 ARL6IP1 ZFR SLC19A3 CACNA1D FA2H KIF1A PROK2 C19orf12 CAPN1 NDUFS8 HESX1 REEP2 DSTYK ENTPD1 ADAR PDHA1 GTF2H5 CYP27A1 SP110 FGFR1 ABCD1 CCDC88C DDHD2 RNASEH2C ATP6AP2 PRPS1 GBA2 MTPAP RAB3GAP2 COASY ARSI MT-ATP6 FUZ MPLKIP SDHAF1 GJC2 RNASEH2A IL17RD CKAP2L PET100 GBA TREX1 KDM5C DCC ADGRG1 SETX NDUFA9 NDUFA12 SQSTM1 NDUFAF6 NDUFS2 NDUFS3 KIDINS220 FLRT3 SRPX2 COX15 AMPD2 PEX3 ATP13A2 FLRT1 SAMD9 NDUFA10 B3GALT6 WDR48 DNM1L NDUFV2 TARS1 GOT2 NDUFA13 NDUFV1 TFG NDUFS7 ALDH18A1 BSCL2 AP4B1 NDUFA4 NDNF VPS37A B4GALNT1 NDUFS1 LYST GJB1 POLR3GL GTF2E2 PI4KA WDR11 MICOS13 C9orf72 AIMP1 SDHB SLC33A1 HACE1 SDHA PEX16 USP8 FOXRED1 AIFM1 ATRX KY CLTC GBE1 TOE1 UCHL1 SPAST DDHD1 INTS8 FEZF1 NDUFS4 POLG ASAH1 NDUFAF5 NDUFAF2 OPA3 TBCE ECHS1 SPRY4 PNP BTD SDHD SPG21 HP_OCULOGYRIC_CRISIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCULOGYRIC_CRISIS PCBD1 STXBP1 EEF1A2 SLC6A3 MBD5 DNM1L KIF1A GRIN2B PTS SLC18A2 CHAMP1 EPB41L1 SPR DEAF1 BRSK2 GRIN1 CLTC SET DNAJC12 KCNQ5 NBEA HIVEP2 CAMK2B SETD1B TCF4 KDM5B MED12L CUX1 CIC DOCK8 CDH15 CACNG2 TSPOAP1 TAOK1 KIRREL3 PPP3CA ASH1L SYNGAP1 RAB11A CSNK2B ZMYND11 TH ATP13A2 TRPM3 DYNC1H1 DLL1 DDC MYT1L CAMK2A HP_CUTANEOUS_FINGER_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTANEOUS_FINGER_SYNDACTYLY LMBR1 FRAS1 IRF6 NOG GLI3 DCHS1 LEMD3 TP63 FGFR2 PIEZO2 PAX3 ROR2 HOXD13 NECTIN1 ORC1 FAT4 SMO CHSY1 KAT6A KCTD1 MEGF8 NECTIN4 LRP4 WDR19 CHUK CCBE1 HP_OVERLAPPING_FINGERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERLAPPING_FINGERS MOGS OTUD5 PPP1R21 TNNT3 MYH3 NALCN TPM2 TMEM94 EBP SAMD9 CNTN1 PRKDC EVC2 DOK7 SETBP1 CTU2 NEK9 MYBPC1 MADD PTF1A KIAA1109 CHST11 TNNI2 PI4KA FLNA MECOM MED25 EVC ALG12 ATN1 COG7 BICD2 MYOD1 HP_KELOIDS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KELOIDS APC MAP3K7 ATP7A FLNA EP300 COL7A1 CREBBP HP_BIFID_EPIGLOTTIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIFID_EPIGLOTTIS DYNC2I1 DYNC2I2 WDR35 GLI3 DYNC2H1 FOXE1 IFT80 HP_APLASIA_HYPOPLASIA_OF_THE_EPIGLOTTIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_EPIGLOTTIS FGFR3 SF3B4 C2CD3 SETBP1 GLI3 EIF4A3 PRRX1 NEK1 FGFR2 FGF10 HP_HAMARTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAMARTOMA SDHD APC NF1 HRAS SUFU VHL PTEN VPS16 FAT4 IDH1 PCGF2 NF2 TCTN3 KLLN DYNC2LI1 ACTB NRAS BMPR1A STK11 BRAF GLI3 ACVR1 TMEM216 KANSL1 SMAD4 TMEM127 SDHB TSC2 AKT1 KIF1B MSH3 RET SMO NEK9 OFD1 PTH1R SIX6 PTCH2 PIK3CA GREM1 KIF7 SDHC TSC1 FGF3 GCDH DIS3L2 CDK4 CDC73 KRT1 CCBE1 SEC23B KRT10 CPLANE1 IDH2 DLST CCND1 PDE6D ADAMTS3 IFNG TFAP2A MVK MSH6 SDHA MAX COL18A1 FH FGFR3 FAM149B1 SOX2 CDKN1B SLC25A11 KIAA0753 SDHAF2 USF3 PTCH1 MDH2 HP_HAMARTOMA_OF_THE_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAMARTOMA_OF_THE_EYE PIK3CA NF1 SDHA SDHD MAX SDHC TSC1 FH AKT1 TSC2 SDHB KRT1 TMEM127 VHL PTEN SLC25A11 SEC23B NF2 KRT10 KIF1B RET SDHAF2 DLST CCND1 USF3 IFNG KLLN MSH6 MDH2 HP_DYSPLASIA_OF_THE_FEMORAL_HEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSPLASIA_OF_THE_FEMORAL_HEAD COL2A1 HSPA9 IHH B3GALT6 MTX2 TRAPPC2 HP_ABSENT_EPIPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_EPIPHYSES PIK3C2A MATN3 ADAMTSL2 IFT140 COL11A2 COL2A1 DYM CANT1 LONP1 COMP EXTL3 TRPV4 PLOD3 TRAPPC2 KIF22 CDC6 CHST3 SMARCAL1 RNU4ATAC HS2ST1 HP_CONE_SHAPED_EPIPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONE_SHAPED_EPIPHYSIS ATR CEP120 DYNC2LI1 ZMIZ1 TRPS1 PDE4D IHH SMAD4 KNSTRN COG4 TRIP11 RBBP8 PIK3CD SDCCAG8 OFD1 WDR19 ATRIP SRCAP IFT80 MRPS28 EIF2AK3 GDF5 GPX4 IFT172 TTC21B PRKAR1A CEP152 FGFR3 NOG CENPE PDE3A IFT140 AIFM1 BGN RUNX2 FBN1 PLK4 EVC NPHP4 MAP3K7 CEP290 FLNA SHOX NSMCE2 IQCB1 CEP164 NPR2 MIA3 INVS TRAIP DYM DYNC2H1 PCNT RSPRY1 RMRP NEK1 TRAF3IP1 CENPJ CSPP1 BMPR1B DYNC2I1 MIR140 EXT1 DYNC2I2 COMP KIAA0586 KIF15 NPHP1 FGF9 NPHP3 COL2A1 EVC2 IFT52 POC1A HP_ENLARGED_EPIPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_EPIPHYSES COL10A1 CYP2R1 COL2A1 PIK3R1 CLCN5 NKX3-2 VDR CCN6 CKAP2L TRAPPC2 GDF5 COL11A2 SLC34A3 CYP27B1 HP_IRREGULAR_EPIPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRREGULAR_EPIPHYSES DYM RNU4ATAC MATN3 ADAMTSL2 COL9A1 COMP COL2A1 PEX5 COL11A1 TRAPPC2 TRIP11 COL9A3 SLC26A2 SIK3 COL9A2 NANS UFSP2 CHST3 KIF22 CDC6 RPL13 ACAN NMNAT1 HP_IVORY_EPIPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IVORY_EPIPHYSES ATR PCNT TRPS1 EIF2AK3 ERCC6 PCYT1A ERCC8 TONSL HP_PSEUDOEPIPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSEUDOEPIPHYSES CPLX1 RAB23 PCNT HOXA13 PTH1R CTBP1 NKX3-2 RPS6KA3 KCNH1 LETM1 SALL1 GDF5 NSD2 BMPR1B FGFRL1 MAP3K7 HP_SMALL_EPIPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_EPIPHYSES MATN3 COL2A1 MMP13 COMP COL11A1 CHST3 TRIP11 COL9A3 RMRP RTL1 SLC10A7 RSPRY1 COL9A2 COL9A1 AIFM1 NANS RNU4ATAC KIF22 MEG3 EIF2AK3 DLK1 TONSL HP_TYPE_2_MUSCLE_FIBER_PREDOMINANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_2_MUSCLE_FIBER_PREDOMINANCE ALG14 CLCN6 KY COQ5 DYNC1H1 HP_SKIN_TAGS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_TAGS PTCH2 SF3B4 NSMCE2 SIX1 EYA1 IRX5 CTBP1 ODC1 UBE3B POLR1D ALX3 MAFB BCOR GNAI3 SALL1 SUFU KIF7 FGF3 PTEN EFTUD2 SNRPN RIPK4 PIGS PIK3CA NAA10 LETM1 HNRNPU GPC3 PUF60 WBP11 NSD2 FLCN MED12 AKT1 CTNND2 EXT2 FGFRL1 MED13L KMT2D STAG2 PLCB4 CPLX1 FGFR1 EDN1 KDM6A SIX5 POLR1C ANKRD11 TXNL4A TCOF1 ALX1 SVBP MSL3 COL2A1 FLNB B3GLCT TMEM260 POLR1B VPS13B CCDC22 EDNRA FN1 WASHC5 PRMT7 LRP5 CHD7 ANTXR1 FGFR2 SALL4 GPC4 SEMA3E SEMA5A ARID1B TASP1 DACT1 PTCH1 CHN1 HP_PALMAR_PITS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALMAR_PITS PTCH2 POFUT1 POGLUT1 PTCH1 CIB1 PSENEN KRT5 SUFU ATP2A2 HP_ANGIOFIBROMAS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANGIOFIBROMAS PIK3CA MLH1 SDHC MSH2 SDHB CDKN2C MEN1 PTEN CDKN1A TSC2 NRAS CDKN1B KRAS TSC1 SEC23B CDKN2B MSH6 USF3 SDHD AKT1 HRAS KRT17 IFNG PLCD1 KLLN HP_FIBROADENOMA_OF_THE_BREAST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FIBROADENOMA_OF_THE_BREAST PRKCD APC PRKAR1A FAS PRLR CASP10 AKT1 PTEN RASGRP1 FASLG HP_MALAR_PROMINENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALAR_PROMINENCE XRCC4 HDAC8 NSMCE2 LAS1L CTDP1 HBB NBN HP_CUTANEOUS_SYNDACTYLY_OF_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTANEOUS_SYNDACTYLY_OF_TOES BCOR SMO NOG DYRK1A CREBBP MECP2 MYH8 RPL10 NECTIN4 MCTP2 EP300 SVBP FGF9 SLC39A8 NECTIN1 SMARCAD1 GJA1 HP_NEOPLASM_OF_THE_SKELETAL_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_SKELETAL_SYSTEM RB1 EXT2 ATP7A RPS28 APC RECQL4 RPS15A BMPR1A RPL27 POLR1D RNASEH2C MLH1 ADA2 WRN PTPN11 LMNA RPL18 COL2A1 PHF21A IDH1 KRAS AAGAB RNASEH2A RPL35 TREX1 SHOX RPL35A COL14A1 MSH6 PIK3CA GATA1 TGFBR2 CHEK2 GLI3 TCOF1 PMS2 TP53 SQSTM1 RPL15 TSC2 FGFR3 TSR2 RPS19 IFIH1 SAMHD1 COL11A2 MLH3 POLR1B RPS7 EPCAM ALX4 MSH2 RPS27 GNAS PTH1R EXT1 RPL11 AKT1 TAF15 PTEN RAD21 ACP5 ACAN SEMA4A PMS1 RPS20 PORCN RPL5 TSC1 RPL31 IDH2 RNASEH2B MSX2 MTAP FAN1 NR4A3 IFNG SOX6 RPS29 RPS10 RPS26 POLR1C TRPS1 PRKAR1A CHRNG RPL26 ANAPC1 CDKN2A MDM2 ADAR RPS17 RPS24 FGFR1 HP_APLASTIC_HYPOPLASTIC_TOENAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASTIC_HYPOPLASTIC_TOENAIL SOX4 ARID2 GTF2I SLC35D1 HOXA13 RBPJ KCNH1 EOGT GTF2IRD1 SHOC2 SOX11 CLIP2 INPPL1 GJB6 DYNC2LI1 EVC EVC2 TERT ABHD11 GPC4 CKAP2L NECTIN4 ELN ARID1B TERC SMARCE1 PPP2R5D WNT7A GLI1 EIF4H KDM1A LAT2 NHP2 STX1A GDF5 TELO2 NSUN2 COL7A1 DLL4 AFF4 GJB2 PORCN SMARCA4 BUD23 EZH2 DPF2 HRAS RIPK4 MAPK1 METTL27 TBL2 SHANK3 LIMK1 PPP1CB CLDN3 SHOX SMARCB1 BAZ1B ARHGAP31 ODC1 COL11A1 SUZ12 TBX3 LIG4 PARN RTEL1 PIGF NOG DKC1 KCNN3 NOP10 FGFR1 WRAP53 JUP USB1 GTF2IRD2 SMARCA2 LBR CPT2 NOTCH1 NCF1 TBC1D24 TINF2 RFC2 FKBP6 NSD1 SMARCC2 CTC1 CLDN4 APC KRT14 DNAJC30 TBX4 DOCK6 VPS37D ATP6V1B2 NPM1 MLXIPL DPH1 CRKL SMARCD1 BCR MSX1 EIF5A DSP TMEM270 TCTN3 EED BCL7B LRP4 ARID1A HP_ANTERIOR_PITUITARY_DYSGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTERIOR_PITUITARY_DYSGENESIS DMXL2 LHX4 PROKR2 MAGEL2 PROP1 ARNT2 OTX2 GATA6 GLI2 LHX3 SNRPN SOX3 HESX1 GHRHR TBX3 NDN MADD ZSWIM6 POU1F1 MTHFR NONO OCA2 FOXA2 SOX2 SIX3 VANGL2 RBM28 FGFR1 SIX6 HP_ANTERIOR_PITUITARY_AGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTERIOR_PITUITARY_AGENESIS OTX2 HESX1 LHX4 GATA6 GLI2 SIX3 PROP1 FOXA2 POU1F1 HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_FEET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_FEET COL9A1 MATN3 EIF2AK3 COL9A2 ARSL COL9A3 HP_SCHIZENCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCHIZENCEPHALY SIX3 WNT1 COL4A2 COL4A1 SHH EMX2 EPG5 WDR62 TUBB2B HP_ELEVATED_ALKALINE_PHOSPHATASE_OF_BONE_ORIGIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_ALKALINE_PHOSPHATASE_OF_BONE_ORIGIN DMP1 VCP CYP2R1 ABCC6 SLC34A1 CYP27B1 ENPP1 CTNS CCDC115 SLC34A3 HP_ABNORMALITY_OF_THE_NASAL_CAVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASAL_CAVITY SIX3 FGFR1 DLL1 TGIF1 FOXH1 ZIC2 DISP1 PTCH1 NODAL TDGF1 CDON GLMN GLI2 FGF8 GAS1 SUFU SHH HP_CERVICAL_SPINE_INSTABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CERVICAL_SPINE_INSTABILITY COL2A1 TGFBR1 B3GALT6 ARSL COMP POP1 BGN TGFB3 SMAD3 HP_ABNORMAL_ELASTICITY_OF_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ELASTICITY_OF_SKIN ATP7A TENT5A C1R COL1A1 ENPP1 RTL1 GTF2I B3GALT6 MGP GNB2 KRAS FBN1 COL12A1 FBLN5 GTF2IRD1 GGCX LMNA SDR9C7 HPGD ACD PEX1 SLC25A24 MAN1B1 SPEN ATP6AP1 GORAB SLC6A8 TP53 ALOXE3 RAF1 RTEL1 SLC2A10 COL1A2 ZNF469 RPS6KA3 TERT TNXB PTEN NAA10 IFT43 MAN2B1 ABL1 ATP6V0A2 SMAD3 XYLT2 CHST3 ABCC6 PYCR1 INSR TGM1 WDR37 ELN MRPS16 ADAMTSL2 PSAT1 TRIP4 B4GALT7 EZH2 FLNA EFEMP2 METTL27 TGFBR1 TBL2 ALDH18A1 MAP2K2 CHST14 PITX2 OTUD5 USP8 FIG4 TUBB AIP BRAF SON PAH MRPS22 PLOD1 GSN TGM5 VAC14 MEG3 ZMPSTE24 MTAP EHMT1 SH3PXD2B TWIST2 GNAS FGFR2 EDA SRD5A3 DSE EXT1 COL5A1 YY1 SLC7A7 SPINT2 NCF1 TRPS1 KIAA0586 RFC2 PDGFRB PUF60 COL3A1 DNAJC30 PIGQ CEP55 AEBP1 ATP6V1A COL5A2 FKBP14 SLC26A2 CD96 ANTXR1 BCL7B OSMR SMARCAD1 TBL1XR1 KDELR2 B3GAT3 WRN SMARCD2 CLIP2 FOXC1 ABHD11 IARS1 DKC1 WDR35 ALG8 PDE11A MEGF8 SHOC2 GBA NIPAL4 ADAMTS2 C1S ALOX12B POLD1 NDUFB11 EIF4H RIN2 XYLT1 LAT2 HRAS MBTPS2 STX1A ATP6V1B2 MRAS NEPRO SMARCA2 FGFR3 PARN SULT2B1 MLXIPL CSTA BUD23 PDE8B TGFB2 DLK1 SLC39A13 LIMK1 CLDN3 NBAS PTPN11 PRDM5 PIK3R1 BAZ1B PTDSS1 NPR2 NDUFB10 GPX4 SUZ12 PAX2 PHGDH BCL11B TBX15 MAP2K1 TGFBR2 LIPN LTBP4 CSPP1 EXOC6B WDR19 GTF2IRD2 KCNN3 ALG12 SKI SPARC AKT3 ATP6V1E1 ATP6AP2 FGF10 FKBP6 NSD1 CYP4F22 PRKAR1A CLDN4 KCNH1 VPS37D FGD1 COPB1 TINF2 PRKACA LZTR1 MAPRE2 DLG4 TMEM270 KIF22 EED CFTR ABCA12 FGF20 KMT2C CUL4B RIT1 HP_DERMAL_TRANSLUCENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DERMAL_TRANSLUCENCY COL5A1 IARS1 COL3A1 TGFBR1 B3GALT6 COL1A1 PPP1CB SMAD3 POLR3A LMNA COL1A2 TGFBR2 PYCR1 ZMPSTE24 CHD1 SLC25A24 HP_FLAT_NASAL_ALAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLAT_NASAL_ALAE XPC PTCH1 ERCC3 ERCC4 XPA ERCC5 ERCC2 DDB2 HP_ABNORMAL_MENINGEAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MENINGEAL_MORPHOLOGY DLL1 LFNG SUFU PTCH1 RIPPLY2 FBN1 TTR ZIC2 FOXE3 SC5D ATP6AP1 H19 TDGF1 FGF8 TMEM216 PPP2R5D RTTN SH2B1 TGFB2 MESP2 TGFB3 POMGNT1 DACT1 DISP1 SMAD3 PUS3 SIX3 KANSL1 B3GALNT2 DNAJC19 FREM2 HES7 FGFR1 FOXC2 DNAJB11 GAS1 RASA1 FOXH1 ARID2 GANAB SHANK3 HEY2 MFAP5 MYLK NF1 FLNA GLI2 NODAL OTUD5 GRIP1 STAG2 INPP5E DLL3 NOTCH3 FGFR2 GLI3 SON LOX SHH NEK1 GPSM2 ZSWIM6 ELN VANGL2 KIAA0586 TGIF1 VANGL1 PUF60 GMPPB CDON SNRPB ABCC6 SMAD4 LARGE1 SEC24C IGF2 SCN1A TGFBR2 COMT SMC1A JMJD1C POMT1 FUZ MYH11 PKD1 CEP290 KRAS TMEM231 WAC SACS ACTA2 PORCN SIN3A TGFBR1 ALX4 POMT2 HIRA OFD1 FKRP FRAS1 PTCH2 TBX1 SMAD2 NRAS PRKG1 PKD2 BICC1 UFD1 SCN2A DDR2 XPNPEP3 FKTN MAT2A MSX2 WNT7A CSPP1 GP1BB ALG9 NARS1 ADAT3 BMPER COL11A1 ARVCF CCL2 NDE1 PAX3 RREB1 KCNQ1OT1 TBXT HP_ABNORMAL_DURA_MATER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DURA_MATER_MORPHOLOGY DLL1 PTCH2 GLI2 NODAL FOXH1 STAG2 SHH TDGF1 SUFU CDON SMC1A PTCH1 ZIC2 GAS1 FGF8 SIX3 DDR2 TGIF1 DISP1 COL11A1 FGFR1 NDE1 ABCC6 HP_EPIPHYSEAL_STIPPLING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPIPHYSEAL_STIPPLING THRB LBR PEX12 PEX6 VPS35L PEX14 PEX3 FLNB PEX26 PEX10 AGPS PRKAR1A GUSB PEX11B PEX16 NEU1 GDF5 PEX1 DHCR7 PEX5 EBP SNRPB RTL1 GGCX PEX19 PDE4D MGP DDR2 PEX2 ARSL MEG3 PEX13 PEX7 BMPR1B DLK1 NSDHL HP_ABNORMAL_EPIPHYSEAL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EPIPHYSEAL_OSSIFICATION PTH1R RNU4ATAC CYP2R1 PEX6 IYD AGPS TRAPPC2 PEX11B SLC5A5 NEU1 PEX1 CLCN5 RTL1 GGCX KIF7 DDRGK1 TSHR COMP ARSL PEX26 KIF22 NSDHL VDR PEX3 LHX4 PRKAR1A TG PEX10 SLC34A3 B3GALT6 DHCR7 PEX12 PISD COL2A1 SNRPB TSHB ESR1 MGP POU1F1 CYP19A1 PEX16 PEX2 MATN3 GPX4 TRPV4 PROP1 CYP27B1 DYM PEX5 PDE4D LHX3 DUOX2 DDR2 DUOXA2 HESX1 MEG3 PEX13 PEX7 CSPP1 BMPR1B MIR140 TONSL THRB LBR VPS35L PEX14 KIAA0586 FLNB KCNH1 GUSB GDF5 EBP COL9A3 TPO PEX19 DLK1 HP_PATCHY_CHANGES_OF_BONE_MINERAL_DENSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATCHY_CHANGES_OF_BONE_MINERAL_DENSITY TBCE LBR MTAP SQSTM1 GJA1 HP_ABNORMAL_HAND_BONE_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HAND_BONE_OSSIFICATION PTCH2 B3GALT6 MATN3 TRPV4 HOXA13 ABCC6 CANT1 LONP1 ENPP1 EXTL3 UFSP2 TRIP11 SUFU SLC34A2 GDF5 IHH CHST3 MBTPS1 EBP FLNB RMRP SLC10A7 PTH1R DDR2 SLC35D1 BGN GPC3 SETD2 GPC4 BMPR1B COL2A1 PIGV ARSL XYLT1 PTCH1 TONSL FLNA HP_ABNORMALITY_OF_THE_DIENCEPHALON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_DIENCEPHALON PTCD3 FGFR1 SIM1 DLL1 SLC2A1 FOXH1 GTF2I SHH HS6ST1 TDGF1 STAG2 CDON SMC1A SEMA3A GTF2IRD1 PTCH1 VPS16 COASY TRH CLIP2 ZIC2 ABHD11 GLI2 GAS1 NDP SMARCB1 ANOS1 TCTN3 COX10 IL17RD SPG11 FTL ELN DCC FGF8 NODAL PROKR2 EIF4H AKT1 LAT2 GLI3 STX1A FLRT3 BAP1 MFF DISP1 TMEM216 CTNNB1 SIX3 JAM2 PIK3CA SCO2 NF2 SMARCE1 MTRFR GTPBP3 EXOC2 BUD23 CHD7 SMO METTL27 TBL2 TUBB3 SOX10 SCP2 OFD1 LIMK1 CLDN3 BRAF SIX6 TWNK BAZ1B PDGFB KIF7 POMT1 DUSP6 TACR3 CCDC141 TERT NDNF TREM2 FGF17 GPKOW WDR11 CPLANE1 PIK3C2A POMK MAGEL2 NDUFS2 EXOC7 PDE6D POLG RANBP2 GTF2IRD2 SETD5 NDUFAF3 GSX2 FKRP TGIF1 TRAF7 NCF1 CLN8 RFC2 GMPPB FKBP6 CLDN4 FAM149B1 DNAJC30 SOX2 VPS37D NDUFB8 FEZF1 MLXIPL KIAA0753 SURF1 SUFU CDH2 PROK2 NDE1 POMGNT1 POMT2 HESX1 TMEM270 BCL7B SPRY4 CP LEPR LHX3 HP_ABNORMALITY_OF_THALAMUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THALAMUS_MORPHOLOGY TRAF7 PTCD3 PDGFB SLC2A1 POMT1 CLN8 BAP1 MFF TERT GMPPB COASY TREM2 JAM2 NDUFB8 PIK3CA SCO2 NF2 SMARCE1 SURF1 SUFU PIK3C2A MTRFR PTCH1 POMK NDE1 GTPBP3 EXOC2 POMGNT1 POMT2 SMARCB1 NDUFS2 EXOC7 COX10 POLG FTL DCC RANBP2 TUBB3 SCP2 SETD5 CP NDUFAF3 GSX2 SMO FKRP TWNK AKT1 HP_BILATERAL_COXA_VALGA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_COXA_VALGA PDE4D COL9A1 COL9A2 STXBP1 COL9A3 MAN2B1 CCDC47 TGFB3 LMX1B COG8 HP_ABNORMALITY_OF_THE_ZYGOMATIC_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ZYGOMATIC_BONE COL11A1 GTF2I SLC35D1 CNOT3 PIGA BUB1B SIX3 HBB SATB2 FGFR2 KRAS PQBP1 FLNB GTF2IRD1 POLR3A POR POLE FOXC1 COG4 FGFR1 INPPL1 PEX1 DNMT3B MAN1B1 ESCO2 ZNHIT3 FBN1 ROR2 EBP OFD1 RAB23 BBS7 STIL NDP GORAB SLC6A8 GLI2 SF3B4 SERPINH1 SLC2A10 NGF FGFR3 PIGV NTRK1 ZIC2 DHODH FAM20C NSDHL BANF1 TCOF1 STAG2 FZD2 SMAD3 LRPPRC PYCR1 ERF AGL BMP4 NECTIN1 UBE2A COL11A2 SLC26A2 MGP MBD5 ACSL4 PTH1R AIFM1 METTL27 TGFBR1 TBL2 SHANK3 PEPD SEMA3E BLM MAP2K2 CHD7 RAB3GAP2 COL9A1 FLNA COL1A1 LARP7 TP63 OBSL1 NOTCH3 GRIA3 ZBTB20 SEC23A MAF FAT4 LOXL3 SHH NFIX DVL1 RSPRY1 RHOA ADAMTSL4 EFTUD2 PEX7 TFAP2A COL2A1 TGDS NONO COL5A1 LBR YY1 XRCC4 ATP6V0A2 NCF1 DCHS1 RFC2 WNT5A ATRX AMMECR1 PAX3 HBA2 APC DNAJC30 POMGNT1 TAT DISP1 CRKL ARID1B HDAC4 BCR ATP6V1A PDE4D KCNJ2 FGF8 NF1 BCL7B RBM8A HDAC8 LRP4 POGZ SEC24C TBL1XR1 LIFR POLR1D SMAD4 COMT NSMCE2 RDH11 JMJD1C CLIP2 KCNE5 ABHD11 PCGF2 DLG3 EHMT1 GSC MYH3 PIGT ELN FAM50A PEX12 RUNX2 TBX22 NOTCH2 PRMT7 CUL7 LMNA EIF4H CCBE1 MAN2B1 CNOT1 LAT2 CTDP1 STX1A POLR1B PSMC3 RLIM ASXL3 BRAF CDH11 HERC1 B3GALT6 USB1 SNRPB COL9A2 MLXIPL LAS1L CANT1 BUD23 MAPK1 RAI1 SETBP1 SETD2 HIRA SCARF2 FOXP1 LIMK1 CLDN3 TFAP2B PRKAR1A ACAN RPS26 TBX1 PIK3R1 BAZ1B LRP2 PIGU TBX4 GATA1 BMP2 KIF7 NBN TWIST1 UFD1 HSPG2 POU1F1 MAP2K1 DDR2 TMEM165 KIF1A MECP2 TGFBR2 HBA1 LTBP4 SP7 GTF2IRD2 MED12 RNU4ATAC GP1BB TMEM237 ATP6V1E1 POLR1C CTSK SOST KCNH1 PYCR2 FKBP6 ARVCF CLDN4 VPS37D VPS13B RAB3GAP1 RREB1 PLOD3 GPC6 TWIST2 COL9A3 TMEM270 KIF22 BGN CILK1 TONSL HP_ABNORMALITY_OF_THE_CURVATURE_OF_THE_VERTEBRAL_COLUMN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CURVATURE_OF_THE_VERTEBRAL_COLUMN TRPS1 COL1A1 CCDC32 NF1 NRAS SATB1 ALX3 CCDC47 SELENON TPM3 ERCC8 KMT2D TRMT10A KANSL1 NDP GORAB H19 DNAJC6 RERE WDFY3 MBTPS2 SH3TC2 MPZ ARSL SLC39A14 CEP41 ANKRD11 AIMP2 CBL SPEN MAP2K1 XYLT2 SIX3 ZEB2 KIF5A CTSK SIN3A SOS2 FLNB SAMHD1 NIN MYH7 INPP5E CSGALNACT1 NXN FGF8 KCNMA1 SPG11 SOS1 DOK7 ATL1 RPL13 MAP2K2 CHST14 MYLK MIR140 SNRPN CLCF1 RAC3 NGLY1 HACD1 HUWE1 KCNJ2 CDON USP7 GLI2 PRKCZ MYH3 PARN MATN3 KBTBD13 RSPRY1 HNRNPU ABCB7 MEG3 MED12 ARSB PEX7 STAT3 MAPK8IP3 ERCC2 EXT2 HSPD1 PQBP1 GLIS3 PIK3CA AP1S2 PTCH1 NCF1 TMEM237 CUX1 ATP7A CREBBP ATRX SUFU HNRNPK PMP22 SETBP1 AEBP1 ZIC1 SORD TPI1 GJB1 NAA10 JARID2 YWHAG TBL1XR1 BICRA ARID2 AHI1 MBD5 ZMIZ1 COG1 POR FBXL4 TCTN3 PGAP2 FUCA1 FKRP CAPN1 GBA ELN ARID1B SACS NODAL EIF4H RRM2B MAGEL2 NEFL SMARCA2 VPS37A TOR1A FGFR3 CHRNA1 MED27 TBX5 TAOK1 GMPPB TMEM38B IDUA ECEL1 NKX6-2 TRPV4 NEB COX8A RAI1 CHRND HIRA B4GALNT1 CLDN3 HNRNPH2 ATN1 NDUFS3 DDRGK1 TBX1 PTDSS1 SPTBN4 SETD5 TBX4 SHH HSPG2 TBCD LARGE1 MYPN ZMPSTE24 ADAMTS10 DISP1 AIMP1 CASK STAG1 FKBP10 NDN PWAR1 QRICH1 RAPSN CANT1 FBN1 KY PLOD2 MTTP SEC24D COL2A1 GBA2 PET100 VPS13B GNAQ NEK9 RTL1 TMEM270 HK1 TGIF1 NMNAT1 RAD51C TRAPPC11 SALL4 RIT1 MEOX1 ALDH3A2 PTEN POU4F1 SLC25A24 ATRIP RAB3GAP2 BCOR SIGMAR1 CLTC NFIX CLCN4 GAN MYL2 ZIC2 NSDHL FGD1 MECP2 TMEM216 SLX4 ATP6V0A2 TBCK GNPTG FLVCR1 HPDL FGFR1 CEP104 EED RNF113A METTL27 CBS NDRG1 LAMA2 SEC23A LMOD3 NALCN PRX CUL4B PPP1R12A HS2ST1 SLC1A2 PPP1R15B ZC4H2 MAP3K7 FLAD1 PUS7 COLEC11 TUBGCP4 P4HTM SLC10A7 NACC1 TPM2 PLOD1 PIGS ABCC6 HSPB8 TFAP2A COL6A3 SETD1B RLIM WNT1 IKBKG SYNE2 MTMR14 COMP THPO RFC2 UPB1 TTN PIGW VCP UBE2T OCA2 CRKL FN1 SCARB2 SNRPB ITGA7 INPPL1 ACTA1 DDX6 PIGG FAM126A TGFB3 SCN1A TMEM251 TGFBR2 DHX37 COL12A1 PRUNE1 SLC18A3 KMT2E CLIP2 MRPS34 EBP RMRP SCUBE3 DSTYK PDE11A SNAP25 PIGT LETM1 PIEZO2 DCC SMARCE1 NDUFAF6 BDNF FOXRED1 PAX6 FKTN CENPT ATP6V1E1 LARP7 CIC TRIP12 SAMD9 CACNG2 DNMT3A CPLANE1 SMARCA4 FANCL TGFBR1 IGHMBP2 SOX5 SMC1A BGN KATNIP MAPK1 ERCC6 PYCR2 ALG6 MGME1 XYLT1 SURF1 TMEM67 TCF4 NDUFAF5 DPYSL5 SUZ12 ATAD3A PRKG1 ARX HACE1 ACAN WIPI2 DDX59 KDELR2 TNNT3 FBN2 KCNN3 GDF3 LZTR1 ALS2 SP7 TBX6 GP1BB STAC3 FMR1 IHH SKI SGCA GFPT1 SMAD3 COQ2 MED12L DYNC2H1 KRIT1 CTDP1 TWIST1 MAP3K20 PCNT RYR1 NARS1 PLOD3 IDH2 NPHP1 PPP2R3C RET TTI2 FANCD2 DYNC1H1 TBCE KLC2 LMNB1 HMGA2 GTF2I CFL2 DNM1L KRAS INTS1 TERT RBBP8 CAPN3 RAF1 MED25 ZNF469 COL13A1 SGMS2 DPP6 TGFB2 SPTBN1 ARF1 BANF1 RAB18 DLK1 GDF6 CDH15 ERLIN1 MGAT2 PRKD1 PPM1D SLC16A2 GNPAT CSNK2B SFRP4 ZMYND11 GPC4 RFWD3 TRAPPC12 PYCR1 ZNF423 DYSF STXBP1 MIA3 GUSB SATB2 AIP BPTF GABBR2 PYROXD1 DDX3X PTPN23 SMS SMARCC2 ERGIC1 DKC1 IGBP1 MADD SPATA5 UNC80 CCM2 AHSG DVL3 LOX CEP120 COL11A2 CHRNE SYNE1 DNAJC30 SYT2 CCDC8 BCORL1 NEDD4L PSMD12 DACT1 SLC26A2 CHD7 AGO2 PTPN11 MPL C1S NOTCH2NLC RECQL4 DYM SEC24C COLQ FOXH1 KIAA0586 DNA2 SHOX TLK2 ERCC1 DYRK1A WASF1 POMT2 RUNX2 CSF1R CAMK2B FLNA STAG2 FANCA BRAF DPAGT1 RNF13 HERC1 COL6A2 UBE4B DKK1 KIRREL3 RUSC2 CEP290 SGCG PLK4 RAB11A MFN2 PIBF1 TCF20 DCX PUS1 FGF10 MTRR ARL6IP6 NPR2 POMT1 KAT8 B9D1 PHF8 TTC21B KIF1A UBE3A GRIN2B PLAA GTF2E2 LMNA FANCF CSPP1 SLC52A2 HPGD PEX5 BAG3 ARVCF B3GLCT NDUFAF1 POMGNT1 DLL1 P4HB FZD2 TRAPPC4 HLA-B SLC5A7 LRP5 CTC1 CAMK2A ENPP1 CC2D2A LONP1 GTF2IRD1 KNSTRN MTMR2 ASAH1 MYBPC1 RBM28 NTNG1 TRIO FLII TRIP4 NUP88 DNMT3B TERC ACTB LMX1B RAB3GAP1 PGM3 DMD TRAPPC2 GLB1 SLC12A2 BICD2 SCN9A WNT5A ACTG1 RAC1 ADAMTSL2 PSAT1 SPART COQ4 PIGY GAS1 SHMT2 TMCO1 CRPPA FGFR2 SMCHD1 IRF6 XRCC2 TBX2 DLL3 MYMK AMER1 NOP10 ATR SOX9 CTNND2 DSE NONO COL5A1 FHL1 APTX FANCC PDGFRB MFAP5 APC VMA21 MKS1 SMARCD1 FLCN LRP4 ANO5 MAD2L2 SOX4 RAB23 MORC2 AK9 LIFR SEMA3E SYNJ1 ALG2 CHAMP1 DPM2 TMEM231 KCNH1 CRLF1 MAN2B1 LAT2 SCN4A RPL11 GNPTAB ROR2 FLRT1 CEP152 MSTO1 B3GALT6 DEGS1 MASP1 TNNI2 CAVIN1 CHRM3 RETREG1 ALG11 LIMK1 UBA1 PRDM5 MYH2 CHD3 MESD SLC52A3 COL1A2 PUF60 LIG4 VAMP1 ACP5 DHCR7 USB1 EXOC6B SET NEU1 FLI1 ALG12 MOGS NSD1 CDK19 RASA2 NPAP1 DDHD1 FANCG IARS2 PPP3CA DLX5 KIF22 BRIP1 KCNQ1OT1 GABRD SNORD115-1 FANCM EMD PALB2 TONSL COL6A1 A2ML1 C1R SH3PXD2B HERC2 TRIP11 TGFB1 TUBGCP6 SVIL TDGF1 OBSL1 KMT2C PAX7 PPP2R5D RPS6KA3 KDM5B AGA RBM8A DES IFIH1 AKT1 MYO9A COG8 EZH2 ASXL2 TUBB3 TRPM3 ATP6V1B2 ALDH18A1 ERCC4 CRTAP SLC25A46 TCTN1 SDHC CTBP1 NOTCH3 TMTC3 OTUD6B FAT4 GPC3 NDUFA12 YARS2 GNAS ZDHHC9 MEGF8 POP1 POLE CLIC2 MYOD1 PIK3C2A RRAS2 CLP1 FKBP14 SLC25A1 PPIB RPGRIP1L BCL7B GDAP1 SLC35A3 SMAD4 AIFM1 SPEG PPP1R21 B3GAT3 COMT DVL1 BRCA2 MPLKIP CDC45 PTCH2 HSD17B4 DNM2 SIL1 WDR81 EPB41L1 DEAF1 CHAT ANTXR1 POMK ADAMTS2 INPP5K SVBP RRAS TMEM94 FUZ TANC2 PPP2R1A MMP13 TARS1 BUD23 ARFGEF2 SDHD SYNGAP1 VANGL1 HTT ATG7 SNORD116-1 SLC39A13 PMM2 SLC12A6 FANCB ACADS PHGDH PLEKHG5 POLR3GL MESP2 DDR2 TMEM165 PWRN1 AUTS2 VDR ERMARD PHF6 MKRN3 DOCK3 GJC2 EXTL3 P3H1 GLE1 FAM111B DAG1 PRKAR1A PAX3 LAMB2 BRCA1 SMARCB1 PDPN TUBB4A BMPR1B LFNG HMGB3 SIM1 RPL10 AHDC1 PIGL SLCO2A1 PNKP POLR3A RIPPLY2 ARMC9 CHRNG SERPINH1 EMC1 IDS ITCH ERLIN2 TELO2 ABL1 CHST3 NELFA GOSR2 MARS2 B4GALT7 PIEZO1 COL10A1 RBCK1 FARSB CACNA1G FOXG1 SPRTN PHACTR1 FARSA TRAIP ZBTB20 SON CDKL5 WDR45B ERCC3 MYF5 CDC42 LUZP1 TGDS MUSK GNE KCNJ6 ACTL6A DCHS1 ELP1 KCNJ5 TAF1 PIGQ NDUFAF4 ROBO3 ALG9 RAD51 TNFRSF11B PDE4D HRAS NOTCH2 USF3 COL3A1 MAP1B NEMF ARID1A FRG1 PAPSS2 RNASEH2C GARS1 SMARCAL1 FANCE ABHD11 RNASEH2A POLD1 SYT1 GDF5 FANCI CCBE1 KDM6A NUP107 STX1A CCDC22 ACVR1 NEPRO LTBP4 PCYT1A HES7 MTRFR MYO18B GZF1 CHRNB1 NKAP ANKRD17 PDCD10 IL6ST IQSEC2 JPH1 SBF1 SMAD2 SDHB RIN2 ALMS1 PACS1 VPS33A UFD1 MED13 MRAS MAF BIN1 MAT2A WRAP53 GTF2IRD2 RNASEH1 DUX4 RNF125 DOCK8 VPS37D BRF1 PODXL DLG4 CHST11 SNX14 SPG7 FUS LHX3 GNB2 ITGB6 GPR101 MMP23B LMNB2 GCH1 SH2B1 HIVEP2 NHP2 ALG1 GALNS EFNB1 OCRL GRIA4 ARL13B CENPE ACTL6B TBL2 MEGF10 HEY2 EP300 CBY1 ARL3 KLLN SLC35A2 UBR7 PORCN SSR4 CYP7B1 COLEC10 PPP1CB FARS2 MAPT SRD5A3 FGFRL1 CPLX1 WNT3A TINF2 UBTF MYLPF NRXN1 KDM4B SRCAP BCR COL5A2 MMP2 ADAR KLHL41 EGR2 GTF2H5 SHROOM4 L1CAM TMEM138 YIF1B UFSP2 JMJD1C MYO1H MYH11 TCTN2 FGD4 TTPA BRSK2 TREX1 EIF2AK3 MTM1 ACTN2 CUL7 SLC6A1 UPF3B IDH1 ATAD1 NSUN2 PLEC ACTA2 SETD2 STIL ASH1L CNOT3 PIK3CD TBC1D24 HNRNPA1 EEF1A2 PIGU CCN6 RBM10 GFM2 GRIN1 USP9X LEMD3 LSS SRY COPB1 NECTIN1 RREB1 TRMT1 CSNK2A1 WASHC5 AGRN FBXW11 KCNA1 SOX11 NSD2 GAD1 TENT5A MYT1L CDH11 WT1 ATP6AP2 FOXE3 MVK HYLS1 SLC2A10 PIGV KCNQ5 NBEA HGSNAT TBC1D20 TMEM43 APC2 DPF2 LBR CNOT2 MCM3AP USP8 SLC25A21 GRIA3 SBF2 RNASEH2B TOGARAM1 NUS1 SETX AFF3 FXN POLA1 NPM1 HINT1 TK2 SEMA5A GTPBP2 CYP27A1 PGAP3 PALS1 IGF2 ALG14 HGD PRPS1 PCGF2 CNP BMP1 FUT8 FBLN5 NCAPG2 KCNAB2 ASXL3 PISD PAFAH1B1 MLXIPL HNRNPA2B1 TRRAP SF3B4 BAZ1B PIGO ADGRG6 SEC23B RTEL1 FA2H CASZ1 H1-4 PRDM16 NTNG2 CENPJ VPS53 COL27A1 MEIS2 SPARC CD96 FKBP6 CLDN4 MBTPS1 TNRC6B LAGE3 PIK3R2 WNK1 HP_ABNORMAL_FOOT_BONE_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FOOT_BONE_OSSIFICATION MATN3 LBR HOXA13 CANT1 PTH1R SLC35D1 TRIP11 FLNA EIF2AK3 EBP INPPL1 COL2A1 HP_ENURESIS_NOCTURNA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENURESIS_NOCTURNA AQP2 FA2H BNC2 SLC5A2 AVPR2 RNF168 KY HP_ELEVATED_TISSUE_NON_SPECIFIC_ALKALINE_PHOSPHATASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_TISSUE_NON_SPECIFIC_ALKALINE_PHOSPHATASE CYP2R1 ABCC6 SLC34A1 ENPP1 MST1 CTNS TCF4 SEMA4D SLC34A3 DMP1 VCP CYP27B1 GPR35 CCDC115 ESR1 HP_PULVERULENT_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULVERULENT_CATARACT GJA8 MAF CRYBB2 CRYBB1 HSF4 LIM2 VIM BEST1 FTL HP_POLAR_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLAR_CATARACT APC BBS2 EPHA2 ZBTB20 ITM2B COL4A3 PEX5 HSF4 VIM PITX3 HS2ST1 CRYAB HP_INCREASED_CIRCULATING_ANTIBODY_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_ANTIBODY_LEVEL CASP10 NRAS CFHR2 GPC4 IL12A VPS45 CFHR3 MYD88 RASGRP1 IFNGR1 GBA SH2D1A DNMT3B TNPO3 SPINK5 ALB CDSN KRAS CD247 PIK3CD MVK IKBKG KLHDC8B IL4R TERT CARD9 WAS IRAK4 FOXP3 LIG4 FAS COL7A1 ADAM17 OTULIN TPP2 PGM3 UNG SFTPA2 ADA IL12RB1 STAT5B DOCK8 IL7R IL2RG GPR35 NLRP1 KRT9 PSMB9 TYK2 IL6ST MUC5B NCKAP1L PSMB8 STING1 STAT3 PSTPIP1 TCF4 IL2RB MMEL1 VPS33A IL21 CCND1 ELANE MST1 TNFSF15 GPC3 IRF5 PEPD SETX KRT1 EXTL3 IL6R PRKCD CD3E IFIH1 CD40 COL1A1 FASLG SEMA4D POU2AF1 SLC7A7 PSMB4 MS4A2 SFTPC POMP NSMCE3 CD3D HLA-DRB1 SCARB2 XIAP SPIB CD40LG TGFB1 PLA2G7 IL2RA HP_ABNORMALITY_OF_HAIR_TEXTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_HAIR_TEXTURE ATP7A GJB6 ERCC3 A2ML1 TRPS1 EPS8L3 RIT1 CCDC47 KRAS SPINK5 SLC25A24 TARS1 RAF1 EBP OFD1 KANSL1 DSG4 TRMT10A RIPK4 LPAR6 ERCC8 HGSNAT RPS6KA3 CDH3 EDAR GAN BRAF NAA10 IFT43 CBL TP63 ATAD3A TRNT1 SKIV2L PERP GJB2 CDK13 SIN3A TNFSF11 SOS2 NECTIN1 EFNB1 NAGLU RPL21 EZH2 SNX10 PADI3 GATAD2B RNF113A TMCO1 CBS BCS1L SOS1 ARID1B PIGL SEC23A CLCN7 GJA1 PYCR1 PQBP1 MAP2K2 MSX1 KRT71 NRAS NOTCH3 PPP1R15B ASL SATB2 CARS1 SON KANK2 KRT83 BRF1 PPP1CB ALMS1 MED12 AHCY ERCC2 MTOR KAT6B EDA ZMPSTE24 SLC7A7 WDR35 IFT122 ATP6V0A2 CERT1 COL3A1 SVBP DSP TTC37 SUMF1 RRAS2 HPD ATP6V1A GTF2H5 GNS TINF2 OCRL GTF2E2 JUP PTPN11 GNPTAB KRT74 SMAD4 RPS23 SREBF1 ITGA3 SMARCAL1 SUOX TGM3 CDSN MPLKIP ABCD1 WNT10A KRT17 SCUBE3 SIN3B NECTIN4 SHOC2 KRT86 NOTCH2 HRAS NSUN2 RLIM RRAS AFF4 PORCN TCHH LIPH MAP2K1 HR HNRNPH2 NBAS KRT25 FLNA KRT81 ST14 SUZ12 ERCC6 KRT85 LIG4 MRAS VPS33A IKBKG EDARADD LZTR1 DPYSL5 USP9X SGSH ALX4 DCAF17 ATP6V1E1 TCIRG1 NSD1 RASA2 CSTB PCNT PHGDH PLOD3 TWIST2 RMRP KCTD1 DSC2 EED HP_ABNORMAL_HAIR_PATTERN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HAIR_PATTERN A2ML1 KMT2E CCDC32 HDAC8 SATB1 ALX3 KCNJ8 ADA2 KRAS HERC2 LMNA TECPR2 VPS51 CDH1 APC FOS SPOP WDFY3 CAVIN1 BRAF GATA1 AGPAT2 ANKRD11 CBL RAB18 MAP2K1 XYLT2 KREMEN1 GDF6 SIN3A SOS2 FREM2 EFNB1 GRIA4 AIFM1 ACTL6B SLC6A1 KCNMA1 SOS1 RPS27 ATP6V1B2 MAP2K2 SYT1 MEIS2 GRIP1 HUWE1 NRAS CTBP1 BPTF ACTB PTPN23 MAN1B1 RPS20 HSPG2 UBR7 FLNA NDN KRT83 WNT4 DMPK CPOX MADD ITGB4 STXBP1 NANS PPP1CB ALMS1 ZNF699 ADNP DOCK7 MED12 FGFR3 FGFRL1 DPM2 PEPD RPS29 CPLX1 RPS10 HPDL INSR RPL26 PQBP1 SMARCC2 BRCA1 PIK3C2A PPP2R1A BCORL1 CDH2 RRAS2 KDM4B ZIC1 NEXMIF SNRPN PSMD12 COG5 CD96 UBE2A ANTXR1 POLA1 AGO2 PPARG RPS24 SCN1A ARID1A CHN1 RAD21 JARID2 TBL1XR1 PTPN11 BICRA ARID2 SPECC1L RERE SLC9A7 B3GAT3 RPL27 POLR1D SLC35C1 RAB3GAP2 ECM1 ZMIZ1 PGAP1 WASF1 KDM5C GDF11 SRCAP UBR1 NSD1 NOVA2 NECTIN4 ARID1B WBP11 NOTCH2 AEBP1 NIPBL LMX1B STAG2 PACS1 NSUN2 SVBP RRAS SMARCA2 LIG4 TANC2 RPL15 SETD2 MED27 TP63 MYH3 PORCN POLR1B BRD4 CNOT3 FRMPD4 SNORD116-1 PIK3CD TCF20 BSCL2 PIGK TBC1D24 SLC12A6 SETD5 KAT8 PHF8 KRT85 CREBBP TBX15 IKBKG RPL31 SMC1A PWRN1 RBM10 ERMARD MAB21L1 MKRN3 DOCK3 PWAR1 POLR1C HPGD TBC1D20 KCNH1 XRCC4 LETM1 TAF6 SRY FGD1 VPS13B LZTR1 TRMT1 EP300 TWIST2 EDEM3 TRAPPC4 NF1 RPS17 FBXW11 SOX11 IL2RA HS2ST1 NSD2 MYT1L RPS28 SMPD4 RPS15A DLX4 RIT1 MAFB MEOX1 SLCO2A1 KNSTRN RPL18 SLC25A24 SPEN RAF1 NTNG1 CHRNG RPL35 TRMT10A RPL35A EMC1 KDM1A SMC3 TCOF1 ALX1 CHST3 NELFA CHD2 SLC12A2 LRPPRC DSG4 MID1 ADARB1 TSR2 ACTG1 APC2 DPF2 ARX TMCO1 MAPK1 ALDOA FGFR2 CUL4B SMARCB1 IRX5 TBX2 ZC4H2 TWIST1 CWC27 PUS7 FRMD4A RPL5 DOCK6 NFIX PPP1R15B ZMPSTE24 TFAP2A MED13L INTU RLIM YY1 RPS26 GNE ACTL6A PEX6 MAPK8IP3 SYNGAP1 CCNK FOXP1 SMARCD1 OGT COL17A1 MAGEL2 HR PIGG COG7 PALS1 SOX4 AP2M1 SHOC2 WRN TGM3 THOC6 CNBP ABCD1 SH2B1 TCF12 SMARCE1 KRT86 IFIH1 MAN2B1 NBN CCDC22 TRIP12 NEPRO SPRED1 RPS19 SMARCA4 SLC2A1 RPS7 MYO18B ASXL1 ANKRD17 SALL4 WASHC5 FRAS1 PEX1 RPL11 KRT81 ABCC9 DPYSL5 UGP2 DDX6 ALG9 MED13 MRAS VPS33A TSC1 STAMBP KCNN3 GDF3 NTNG2 LRP2 NOTCH3 NR3C1 IGF1 FREM1 RALGAPA1 CAV1 ALG12 PEX19 RASA2 NPAP1 BLM HTT PADI3 RAB3GAP1 TNRC6B MAP3K7 SNORD115-1 HP_ABNORMAL_HAIR_WHORL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HAIR_WHORL PALS1 JARID2 MYT1L KMT2E CCDC32 HUWE1 KAT8 DPYSL5 HS2ST1 BPTF HERC2 MED27 LMNA ZMIZ1 WRN PUS7 DDX6 PTPN23 CREBBP MAN1B1 MED13 UBR7 FLNA NDN WASF1 NTNG1 STAMBP PWRN1 UBR1 NTNG2 WDFY3 MED12 MED13L MKRN3 DOCK3 PWAR1 RLIM YY1 ACTL6A MAPK8IP3 TRIP12 HPDL SLC12A2 SVBP NPAP1 TANC2 HTT PPP2R1A UBE2A BCORL1 GRIA4 KDM4B FOXP1 TNRC6B SNRPN PSMD12 OGT TRMT1 EP300 CNOT3 TRAPPC4 FRMPD4 ACTL6B POLA1 KCNMA1 MAGEL2 SATB1 SNORD116-1 FBXW11 AGO2 TCF20 SNORD115-1 MADD HP_ASYMMETRY_OF_THE_EARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASYMMETRY_OF_THE_EARS PUF60 GAD1 BCOR RAB3GAP2 SMS HP_CHERRY_RED_SPOT_OF_THE_MACULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHERRY_RED_SPOT_OF_THE_MACULA HEXA SMPD1 CTSA ASAH1 NEU1 DARS1 GLB1 GM2A PSAP TMEM231 GALC HEXB HP_NAEVUS_FLAMMEUS_OF_THE_EYELID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NAEVUS_FLAMMEUS_OF_THE_EYELID PUF60 DVL1 WNT5A DVL3 DIS3L2 FZD2 ASXL1 HP_PEDAL_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PEDAL_EDEMA PLAA TET2 MAGEL2 OCA2 MKKS GATA4 MYD88 ZNHIT3 RNF13 TGM1 TBX20 SNRPN PRKAR1A GBA FN1 CITED2 SETD2 GATA6 ALB APC2 NKX2-5 EIF2AK4 NDN VEGFC TIE1 FLT4 COL2A1 KIF1A ACTC1 GJC2 TLL1 NSD1 SCARB2 MEFV RBM8A MYH6 HP_APLASIA_OF_THE_PHALANGES_OF_THE_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_PHALANGES_OF_THE_TOES KCNN3 FIG4 LMNA VAC14 BMPR1B GDF5 HP_MEDIAL_FLARING_OF_THE_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEDIAL_FLARING_OF_THE_EYEBROW TTC8 LZTFL1 BBS9 WDPCP APTX BBS1 ARL6 SIN3A ELN SDCCAG8 MLXIPL IFT172 BBS5 BBS7 SCAPER BBS12 CEP290 BBS4 BBS2 TRIM32 BBIP1 MKKS CEP19 IFT27 IFT74 CFAP418 BBS10 MKS1 NPHP1 HP_BLEPHAROCHALASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLEPHAROCHALASIS ADAMTS2 COL1A1 GSN COL5A2 CDH11 COL5A1 HP_DERMATOCHALASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DERMATOCHALASIS EFEMP2 KNSTRN PIK3CD COL1A1 COL5A2 FBLN5 COL5A1 HP_DIMPLE_CHIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIMPLE_CHIN NALCN CTU2 PIK3R1 ERF EZH2 SPECC1L MYH3 CHD7 PIEZO2 SEMA3E KCNJ6 RUNX2 TBX22 TFAP2A TWIST2 SMARCA2 HP_ABNORMALITY_OF_THE_TEMPOROMANDIBULAR_JOINT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_TEMPOROMANDIBULAR_JOINT LAMA2 PLCB4 PTPN2 VPS13A EDN1 IDS COL1A1 ZMPSTE24 COL5A2 PTPN22 LMNA GNAI3 IL2RB IL2RA ANKRD55 CD247 STAT4 COL5A1 HP_ABNORMALITY_OF_THE_PREMAXILLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PREMAXILLA PTCH1 NFIX COLEC11 GLI2 NRAS EFEMP2 HRAS SMOC1 HP_PROMINENCE_OF_THE_PREMAXILLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENCE_OF_THE_PREMAXILLA NFIX COLEC11 NRAS EFEMP2 HRAS HP_ABSENT_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_TOE PALS1 JARID2 NSD2 MYT1L KMT2E HOXA13 NOG CCDC32 CTBP1 KCNJ8 RBPJ LMBR1 SMOC1 EOGT FIG4 ZMIZ1 DLX5 WASF1 NTNG1 CHSY1 BMPR1B CPLX1 LETM1 WDFY3 KCNH1 GDF5 NOTCH2 ARSL WNT7A FLNA FGFR2 PTHLH ACVR1 TRIP12 NELFA ABCC9 SLC12A2 SVBP ROR2 DLL4 BMP2 TANC2 FGFR1 LMNA MED27 GRIA4 TRPV4 PORCN MGP KAT6A RIPK4 CNOT3 ACTL6B KCNMA1 ARID1B GJA1 DACT1 TCF20 BHLHA9 SF3B4 ARHGAP31 HUWE1 KAT8 DPYSL5 HS2ST1 SALL1 BPTF IHH GLI3 DOLK PUS7 DDX6 PTPN23 MED13 UBR7 SALL4 PIGF KCNN3 NEK1 NTNG2 GPC4 VAC14 PUF60 FGFRL1 DOCK3 WNT10B RLIM NOTCH1 ACTL6A MAPK8IP3 HPDL APC DOCK6 HTT BCORL1 HOXD13 KDM4B TNRC6B PSMD12 TRMT1 CHST11 TRAPPC4 SATB1 FBXW11 AGO2 LRP4 PIGG MADD HP_BROAD_COLUMELLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_COLUMELLA CWC27 PIK3C2A EXOSC2 ATP6V1E1 PPP1R21 CKAP2L HDAC4 RDH11 FLI1 GJA1 ZSWIM6 ALX4 HP_ECTOPIC_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTOPIC_CALCIFICATION ERCC2 RB1 ATP7A ENPP1 PEX6 MGP MT-TS1 KCNJ1 AGPS SUFU SLC12A1 WRN ATP7B LMNA ERCC8 PEX1 STAT2 PRSS1 MT-ND6 ACD RNASEH2A KRAS RTL1 TERT CPA1 TYROBP AGXT SC5D PRSS2 GNAS PDGFRB PEX26 CA2 APOB RTEL1 OCLN TERC ADAR TCIRG1 ISG15 ARSL CTSC ECM1 SLC20A2 PCSK9 TNFRSF11A NHP2 FAM20C GALNT3 CTNS MT-TS2 PEX3 ERCC6 SLC46A1 PRKAR1A ABCG5 PEX10 TSC2 PEX12 MEFV IFIH1 FAM111A GBA SAMHD1 QDPR SNORD118 HGD PSAT1 PTH1R GNPAT ERCC1 NOTCH1 LIPA PEX16 MT-TH GJA1 TNFRSF11B BRAF RELN SLC25A46 KARS1 FARSB MEN1 KRIT1 TREM2 ACP5 SLC34A2 ERCC3 ZBTB20 PEX5 PARN PAH MT-CO1 NOTCH3 SLC12A3 DKC1 NOP10 RNASEH2B ABCC6 MEG3 ZMPSTE24 SMAD6 MYO5A CFTR PEX7 HRAS RNASET2 BMPR1B IFNG LBR SMARCB1 HYAL1 B2M THRB GATA3 AP1S2 PTCH1 TINF2 FLNB GUSB CASR ALPL NRAS EBP NPM1 CTRC PEX19 RNASEH2C MT-TW XPR1 TREX1 COL9A1 SLC26A2 SNRPB ANKH JAM2 MT-ND4 FGFR1 PDGFB CDC73 SLC2A1 HLA-DQB1 CYP11A1 CLCNKB MT-TL1 PEX11B NEU1 COL2A1 GGCX PTCH2 SPINK1 CPT2 DENND5A TNFRSF1A NSDHL MT-CO2 NKX2-5 ACVR1 CTNNB1 PSMC3 FBN1 DHCR7 LDLRAP1 DNM1L MT-ND1 SUCLA2 PTH GATA5 MT-ND5 DAG1 OPA1 STAT1 FGF23 PSMB8 GNA11 PEX2 MTX2 ODC1 HSD17B4 FXYD2 MT-CO3 MYMK PHGDH VPS33A CCN6 CYP2U1 APP GCM2 PDE4D TSC1 LDLR AMER1 DDR2 WRAP53 COL11A1 PEX13 MYORG NT5E USB1 AP2S1 MT-TF KL ERCC5 VPS35L PEX14 MT-TQ HLA-DQA1 USP18 GNAQ CTC1 GDF5 ABCG8 NSMCE3 TTC7A COLGALT1 PSMG2 ERCC4 SLC29A3 AIRE DLK1 HP_PARTIAL_ANOMALOUS_PULMONARY_VENOUS_RETURN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARTIAL_ANOMALOUS_PULMONARY_VENOUS_RETURN FOXF1 MYRF TMEM260 SMC1A WT1 NODAL HP_HYPERACUSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERACUSIS BAZ1B LAT2 STX1A NCF1 GTF2I RFC2 FKBP6 GTF2IRD1 CLDN4 RAI1 DNAJC30 DEAF1 VPS37D CLIP2 ELN MLXIPL ABHD11 FLII BUD23 GM2A TMEM270 METTL27 BCL7B TBL2 GTF2IRD2 LIMK1 IQSEC2 CLDN3 EIF4H HP_SKIN_DIMPLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_DIMPLE NSD2 RPL10 GTF2I CTBP1 HOXA13 COLEC10 GTF2IRD1 DVL1 USP9X HCCS CLIP2 HNRNPK EBP RMRP ABHD11 RAB23 KMT2A FANCF KANSL1 CDK10 SPOP CPLX1 DHPS LETM1 ELN NADSYN1 OTUD6B EIF4H SOX9 NCAPG2 LAT2 STX1A CTCF NELFA NSUN2 PAFAH1B1 NDUFB11 DPAGT1 WNT5A KCNK9 FUZ BUD23 B9D2 MASP1 ASXL1 NXN ALPL METTL27 TBL2 SHANK3 ARID1B LIMK1 CLDN3 PSMD12 LIFR BAZ1B SETD5 ODC1 DEAF1 TBX4 DVL3 SUGCT TMCO1 LIG4 FAT4 ERGIC1 YWHAE ZNF699 ROR2 MED12 GTF2IRD2 FGFRL1 EXTL3 VANGL2 DYRK1A AFF3 NCF1 DCHS1 RFC2 FKBP6 CAPN15 KIF15 VANGL1 ANK1 CLDN4 DNAJC30 TAF1 B3GLCT VPS37D MLXIPL CCL2 COX7B AEBP1 FZD2 TMEM270 CD96 BCL7B HIC1 TBXT PIGG HP_ERYTHEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERYTHEMA KRT9 RECQL4 MT-TS1 ALOX12B MT-TL1 ALDH3A2 HPGD HLA-B HCCS MT-ND6 ITGA3 SERPING1 FECH DSP GJB4 KDSR GJB6 KRT16 CDSN ERCC5 GJA1 LORICRIN EBP MBTPS2 DSG4 TRAF3IP2 IL17RC KRT5 NSDHL MT-CO2 ADAM17 GLUL CTSB SCN9A PGM3 HLA-DRB1 MT-TS2 DDR2 COL1A1 LRP1 NDUFB11 LIG4 KRT1 EGFR GJB2 NOD2 TGM5 MT-ND1 SLURP1 CSTA MT-ND5 TRPM4 MEFV PEPD PIGL PSMB8 MT-TH NLRP3 PLCG2 CLEC7A GJB3 SREBF1 STING1 USP8 KRT14 ALOXE3 MT-CO3 HLA-DQB1 AP1S1 AIP PDGFB KRT83 KIT PERP SCN10A IKBKG MT-CO1 PORCN WNT10A CD28 FERMT1 TNFRSF1B ERCC3 SLC39A4 KRT2 XPA KCNQ2 STAT3 SULT2B1 IL36RN RHOH MT-TF AQP5 MT-TQ ERCC4 TGM1 XRCC4 ERCC2 IL17RA XPC SCN11A IKZF1 ANAPC1 ADGRE2 CTLA4 CDKN1B IL17F COL7A1 ATP2C1 DDB2 LIPN COX7B MT-TW MVK ELOVL4 KRT10 PSMG2 MT-ND4 TREX1 RNF168 TNFRSF1A TRPV3 HP_GONADAL_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GONADAL_NEOPLASM GATA4 RAD51D RNF43 PIK3CA KEAP1 PALB2 CDKN2A MLH1 CTNNB1 WNT10A BRCA2 SUFU VHL FLI1 HNF1B LMNA WRN FGFR2 DHH STK11 PTCH1 KRAS DMPK BARD1 AKT1 NSD1 PTEN WT1 NR5A1 CYP11B1 RABL3 KCNQ1OT1 ZFPM2 MSH6 TXNRD2 RAD51 TGFBR2 IDH1 BRCA1 EWSR1 PMS2 STS KANSL1 TP53 CDKN1C PRKN SETD2 APC2 MLH3 MSH3 EPCAM MSH2 SETBP1 SRY VAMP7 DMRT3 MRE11 BRIP1 CDH1 BCL10 OPCML PTCH2 RAD51C AR KCNQ1 CHEK2 CREBBP FGFR3 PMS1 NBN CDC73 SOX9 PAX6 MC2R CCND1 DICER1 RELA STAR MNX1 MAP3K1 SMAD4 KIT FAN1 PALLD WWOX ZFTA RAD50 MRAP PRKAR1A NR0B1 IGF2 CDKN1B DHX37 IDH2 EP300 MDM2 NNT STAG3 ERBB2 HP_URINARY_TRACT_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URINARY_TRACT_NEOPLASM FIBP EXT2 GATA4 SDHD RNF43 KEAP1 GPC4 BMPR1A B3GALT6 BUB3 BUB1B DIS3L2 MLH1 PIK3CA WT1 VHL PTEN HNF1B LMNA BAP1 BMPER PHF21A IGF2 KRAS H19 PBRM1 NTHL1 FH NR5A1 AKT1 FGFR3 KCNQ1OT1 TGFBR2 PTPRJ PMS2 TRIM28 TMEM127 SDHB CCND1 GPC3 TSC2 DLC1 MLH3 MSH6 RET MSH2 NRAS SRY EP300 VAMP7 DMRT3 RNF139 POU6F2 AXIN2 KLLN SDHC TSC1 TP53 APC CDC73 HDAC4 TRIP13 CHEK2 PRCC FLCN SEMA4A RPS20 PAX6 DLST IFNG WWOX MVK DCC MAX HRAS RAD54B ATP7A TRIM37 ASXL1 RB1 HNF1A CDKN1B TFE3 CDKN2A DICER1 SETBP1 OGG1 MDM2 USF3 MDH2 PALB2 SRC AURKA BUB1 WRN PTCH1 NSD1 AAGAB ZFPM2 COL14A1 TLR2 TBX18 BRCA2 CDKN1C STK11 FOXE1 NOD2 MCC KIF1B EPCAM MINPP1 FN1 CTNNB1 PDGFRL BRAF KCNQ1 BAX PMS1 SEC23B CEP57 FERMT1 REST SOX9 PTPN12 FAN1 MET SDHA MAP3K1 NR0B1 BLM DHX37 SLC25A11 SDHAF2 PLA2G2A HABP2 ALX4 NF1 HP_GENITAL_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENITAL_NEOPLASM GATA4 RAD51D RNF43 KEAP1 BMPR1A PALB2 BUB3 BUB1B MLH1 WNT10A SUFU VHL FLI1 PTEN HNF1B LMNA MAD1L1 AR DHH STK11 SLC6A17 KRAS AKT1 FH NR5A1 CYP11B1 FGFR3 KCNQ1OT1 RAD51 PIK3CA TGFBR2 PTPRJ BRCA1 EWSR1 PMS2 KANSL1 ZFHX3 CCND1 CDH1 RNASEL DLC1 APC2 MLH3 MSH6 MSH2 WT1 NRAS SRY EP300 VAMP7 DMRT3 MRE11 BRIP1 AXIN2 KLLN BCL10 OPCML GREM1 SDHC TP53 APC MSH3 CHEK2 FLCN SEMA4A STAT6 RPS20 PAX6 MC2R RELA STAR MAP3K1 PALLD COL4A6 WWOX DCC MNX1 RAD54B MRAP PRKAR1A RAD51C COL4A5 IGF2 CDKN1B CDKN2A SETBP1 MDM2 USF3 NNT PTCH1 STAG3 ERBB2 SRC AURKA CTNNB1 BRCA2 BUB1 WRN FGFR2 NAB2 DMPK POLD1 BARD1 AAGAB NSD1 RABL3 ZFPM2 COL14A1 TLR2 TXNRD2 IDH1 NTHL1 STS CDKN1C DOCK8 PRKN SETD2 EPHB2 MCC EPCAM SDHD MXI1 PDGFRL BRAF PTCH2 SDHB KCNQ1 BAX CREBBP PMS1 SEC23B NBN CDC73 CEP57 SOX9 DICER1 PTPN12 SMAD4 KIT FAN1 ZFTA KLF6 RAD50 POLE NR0B1 TRIP13 DHX37 IDH2 PLA2G2A CXCR4 HP_ABNORMALITY_OF_THE_LEYDIG_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_LEYDIG_CELLS GNAS CYP11A1 FSHB NNT SMS MC2R MRAP LHB ALMS1 STAR TXNRD2 HP_IMPAIRED_VISUOSPATIAL_CONSTRUCTIVE_COGNITION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_VISUOSPATIAL_CONSTRUCTIVE_COGNITION JRK NF1 PRKAR1B PMPCA MT-TS1 MT-TS2 MT-TQ MT-CO3 MT-TL1 HTT MT-ND6 ELN GABRB3 GABRA1 BPTF MT-CO1 MT-ND1 MLXIPL MT-TW GABRG2 DMPK CACNA1H MT-ND5 SLC2A1 PSMD12 DARS2 MAPT SLC2A3 KCNC3 POMT1 ABCD1 MT-TH MT-ND4 NOTCH3 MT-TF MT-CO2 HP_HEMANGIOBLASTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMANGIOBLASTOMA SDHA KIF1B SDHD MAX FH RET SDHC SDHAF2 DLST CCND1 TMEM127 VHL PTEN SDHB SLC25A11 NF1 BMPR1A MDH2 HP_EVERTED_UPPER_LIP_VERMILION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EVERTED_UPPER_LIP_VERMILION WDR26 NAA10 EDAR EDA2R AP4B1 CREBBP KCNH1 AP4M1 MAP1B EDARADD RAI1 EDA AP4E1 AP4S1 SETD1A GBA KCNK4 HP_TENTED_UPPER_LIP_VERMILION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TENTED_UPPER_LIP_VERMILION RAB11B SMPD4 PURA PPP1R21 PRKACB ZNHIT3 PIGB PIGL RAI1 ATRX DEAF1 DPM1 RTL1 SIX3 DMPK FGFR1 FLII PGAP2 DDB1 PIGT RSPRY1 PIGV MED25 GLI2 NCAPG2 IER3IP1 PIGW TBCK PAX3 NEXMIF KCNK9 PREPL MBD5 EEF1A2 PIGY TGIF1 NXN CHAMP1 TCF20 FGF8 IQSEC2 ADAMTSL1 MEIS2 MYOD1 CYFIP2 SLC25A46 PIGN MESD RYR1 ZIC2 DIS3L2 CDON PIGO NALCN PLAA FAT4 RAPSN MECP2 GALNT2 GPC4 FOXH1 ROR2 PTCH1 MEG3 WDR4 UNC80 ALDH6A1 KCNJ6 TMEM237 CDC42 SHH KDM4B BRAT1 DCHS1 KCNH1 NODAL TDGF1 MSL3 IL1RAPL1 PPP2R1A DLL1 STRADA DISP1 PGAP3 FOXG1 DLK1 GAS1 SUFU TGFB3 HP_U_SHAPED_UPPER_LIP_VERMILION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_U_SHAPED_UPPER_LIP_VERMILION ZC4H2 CDK19 MAPK1 ZSWIM6 ATRX DPM1 EHMT1 OFD1 HP_OPEN_BITE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPEN_BITE ENAM BAZ1B AMELX GTF2I GPR68 FGFR2 POLR1D PTEN BMP2 GTF2IRD1 MMP20 ADAMTS2 DVL1 DSPP DVL3 CLIP2 ABHD11 PORCN PDE4D OFD1 KLK4 RELT ELN ROR2 GNAI3 GTF2IRD2 FGFR3 KCNN3 RUNX2 NOTCH2 SOBP EIF4H HNRNPK BRAF LAT2 POLR1C STX1A NCF1 TCOF1 RAI1 RFC2 ATP6V1B2 FKBP6 ITGB6 CLDN4 DNAJC30 KCNH1 WNT5A VPS37D MLXIPL PRKAR1A FAM83H POLR1B TWIST1 BUD23 FZD2 TMEM270 NXN METTL27 BCL7B TBL2 OCRL LIMK1 CLDN3 CUL4B HP_PROTRUDING_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROTRUDING_TONGUE SNRPN LMNB1 FAM20C SRPX2 CCDC22 INPP5E NEU1 CDCA7 ATRX PIGB CLIC2 SLC35C1 UBE3A GATA1 PEX1 DNMT3B CSNK2B SLC25A24 NRXN1 EHMT1 MGAT2 PI4KA LAMA2 HELLS VPS13A TAF1 FTO ZBTB24 ZNF699 CHUK NFIX RALGAPA1 PTH1R ADGRG1 OCA2 COG7 HP_EPIDERMAL_NEVUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPIDERMAL_NEVUS PTEN KRAS NEK9 AKT1 NRAS BRAF PIK3CA HRAS HP_GENERALIZED_TONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_TONIC_SEIZURE CUX2 GABRG2 RPL10 DMXL2 SATB1 SCN2A MBD5 TRIM8 DPM1 PCDH19 SCN1B CHAMP1 EPB41L1 DEAF1 PIGT BRSK2 SCN1A PIGQ CLTC ADGRV1 NEUROD2 KCNQ5 NBEA TANGO2 HIVEP2 CAMK2B PNKP KDM5B CIC STXBP1 SCN8A CDH15 ARHGEF9 CACNG2 TAOK1 CACNA1A PAFAH1B1 TBCD GRIN2A KIRREL3 KCNQ2 ASH1L SYNGAP1 KCNA1 RAB11A CSNK2B PIGP ZMYND11 TRPM3 MAPK10 HCN2 MYT1L GNAO1 KARS1 GABRB3 EEF1A2 KIF1A CDKL5 CASK ARX GRIN2B GRIN1 DOCK7 SET SIK1 SETD1B TCF4 KCNQ3 MED12L CUX1 GABRA1 DNM1 DOCK8 SCN9A PRRT2 PPP3CA COG2 CHD2 DYNC1H1 DLL1 SLC25A22 CAMK2A HP_ATONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATONIC_SEIZURE CUX2 DMXL2 PCDH19 GRIN2A MBD5 TRIM8 SCN9A AP2M1 ATP6AP2 GABRA1 PRICKLE1 DPM1 SLC13A5 SCN2A EPM2A SCN1A GPAA1 CHAMP1 EPB41L1 ASAH1 ADGRG1 DEAF1 BRSK2 PIGQ CLTC ADGRV1 NEUROD2 KCNQ5 NBEA HIVEP2 CAMK2B PNKP STX1B KDM5B SCN1B CIC CHD2 GABRG2 NEXMIF GOSR2 CDH15 CACNG2 TAOK1 CACNA1A PAFAH1B1 GABRD KIRREL3 SLC2A1 AKT3 FRRS1L ASH1L SYNGAP1 KCNA1 RAB11A COX8A CSNK2B SLC6A1 PIGP ZMYND11 TRPM3 NHLRC1 MAPK10 HCN2 MYT1L STXBP1 NGLY1 GNAO1 GABRB3 EEF1A2 KIF1A CDKL5 CASK ARX GRIN2B HCN1 PIK3CA GRIN1 DOCK7 GAMT SET ALDH4A1 SIK1 SETD1B TCF4 PLPBP KCNB1 DYRK1A MED12L CUX1 PTEN PIGM DNM1 DOCK8 PPP3CA PHGDH CSNK2A1 ALDH7A1 DYNC1H1 DLL1 SLC25A22 CAMK2A CEP85L IQSEC2 HP_HEMIFACIAL_SPASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIFACIAL_SPASM TRAF7 PDGFB SMARCB1 BAP1 INPP5E TERT PIK3CA NF2 SMO SMARCE1 SUFU AKT1 HP_IMPAIRED_TEMPERATURE_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_TEMPERATURE_SENSATION CACNA1A SIM1 SCN1A MAGEL2 OCA2 ABCA1 HPGD HSPB1 TGM1 SNRPN SLCO2A1 ATL1 SPTLC2 MFN2 NDN ZFHX2 AEBP1 PMP22 NTRK1 SPTLC1 ATP1A2 NGF ATL3 PRRT2 HEXB LMX1B HP_IMPAIRED_TACTILE_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_TACTILE_SENSATION ATXN1 HK1 VCP DDHD1 SACS MPV17 CLTCL1 MORC2 GALC ATP13A2 ATL1 SPTLC2 DCAF8 KLHL9 PLEKHG4 NARS1 PMP22 HARS1 DHH SPTLC1 VWA1 ATL3 SETX HP_IMPAIRED_PROPRIOCEPTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_PROPRIOCEPTION KLC2 ATXN1 ABCD1 SAR1B ERLIN2 DDHD1 SLC25A15 WASHC5 PDYN FLVCR1 RNF170 RTN2 KNSTRN KIF5A GBA2 PDK3 SPTBN2 SPAST ARSI MT-ATP6 ALDH18A1 MFN2 MT-TE SAMD9L HARS1 GCH1 FAR1 DARS2 SACS MPZ VPS41 NAGLU VCP FGF14 C19orf12 NEFL ATXN3 VPS37A ATP13A2 FLRT1 UBAP1 WDR48 XRCC1 PMP22 PRKCG LMNB1 VPS13A PLD3 MAG FXN TWNK POLG ATXN8OS PIK3CD TPP1 CPT1C PIEZO2 NEFH B4GALNT1 REEP1 ATL1 SPG7 TDP1 NIPA1 PRX VPS13D SH3TC2 BSCL2 TBP CACNA1G MORC2 SCO2 DCAF8 KLHL9 SPART GARS1 CYP7B1 PLEKHG4 PEX6 PLOD1 FMR1 HAX1 ZFYVE26 KCNC3 SLC33A1 ATN1 CHCHD10 HSPD1 STUB1 POLR3A SETX VAMP1 HK1 BEAN1 KCND3 MTTP ATXN2 REEP2 SYNE1 ERBB3 SPG11 DNAJC3 GPI HINT1 SORD RFC1 DHH OPA3 EGR2 LRSAM1 HP_ABNORMALITY_OF_PAIN_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PAIN_SENSATION AIFM1 ATXN1 IGF2 DDHD1 LIFR NTRK1 NGLY1 PRNP HERC2 FMR1 RAI1 PRPS1 DEAF1 DKK1 MFN2 ABCD1 GABBR2 MEN1 FLII STXBP1 H19 YY1 HARS1 FAR1 NGF NTNG1 KDM5C SCN11A LMX1B VCP NEFL SCN10A ZEB2 ALDH18A1 WNK1 SPTLC2 PMP22 SCN9A GABRG2 ZFHX2 MPV17 SDHA CHAMP1 SHANK3 SNORD116-1 MADD NLRP3 IQSEC2 TDP1 CHST14 SMC1A SH3TC2 CACNA1A SCN1A ABCA1 CLTCL1 SYNGAP1 GRIA3 CDKL5 ATL1 EBF3 NDN PWRN1 MECP2 RELA ATL3 ALDH4A1 MKRN3 PWAR1 DSE ZFTA MPZ HNRNPK HK1 HSPB1 ELP1 RETREG1 KIF1A SRPX2 NPAP1 UBTF CCT5 HDAC4 FBN1 SNRPN SORD GRIN2A SPTLC1 ATP1A2 MAGEL2 PRRT2 KCNQ1OT1 GJB1 SNORD115-1 HP_SPONTANEOUS_PAIN_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPONTANEOUS_PAIN_SENSATION CACNA1A SCN1A PRRT2 PMP22 ATP1A2 HP_TROPHIC_CHANGES_RELATED_TO_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TROPHIC_CHANGES_RELATED_TO_PAIN ATL3 ATL1 SPTLC2 NTRK1 SPTLC1 HP_ABNORMAL_CIRCULATING_COPPER_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_COPPER_CONCENTRATION TMPRSS6 SCO2 COG2 ATP7B ATP6AP1 CP AP1B1 AP1S1 ATP6V0A2 SPATA5 HP_MULTIFOCAL_EPILEPTIFORM_DISCHARGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIFOCAL_EPILEPTIFORM_DISCHARGES GABRG2 SCN1A MAN1B1 DMXL2 SATB1 MYD88 SCN2A TRIM8 NSUN2 SLC13A5 SCN1B C12orf4 GRIK2 EDC3 PGAP1 AIMP1 PIGT GNB1 PIGQ WASHC4 NEUROD2 LINS1 FMN2 SARS1 SPTBN1 PNKP GRM7 NPRL3 UBE4A STXBP1 MED25 UFSP2 NDST1 ALKBH8 FGF12 ZC3H14 HNMT TNIK TECR MED23 KCNA1 DEPDC5 CHD2 PIGP TRAPPC9 IQSEC1 LMAN2L CLIP1 CLTCL1 GNAO1 CLN5 SLC12A2 KDM5B ST3GAL5 PIGC CRBN METTL23 CDKL5 PRSS12 CASK ACTL6B ARX LRPPRC MBOAT7 ST3GAL3 SLC45A1 DOCK7 DCPS MED13L SIK1 PCDH19 PPP3CA PLPBP DPYD GABRA1 SLC25A10 NCDN SCN9A CARS2 B3GALNT2 TTC5 FBXO31 RSRC1 NPRL2 TUSC3 ALDH7A1 CC2D1A CRADD KCNMA1 NEMF FRRS1L SLC25A22 EZR HP_EEG_WITH_MULTIFOCAL_SLOW_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_MULTIFOCAL_SLOW_ACTIVITY SLC13A5 PIGY AP3B2 GABRA2 DNM1 TRAK1 GRIN2D DHDDS ARV1 PPP3CA GABRA5 HCN1 CACNA1A SCN8A CYFIP2 STXBP1 KCNB1 KCNA2 GABRG2 NUS1 SLC1A2 FGF13 CACNA1B PARS2 WWOX YWHAG GRIN2A DALRD3 AARS1 SZT2 CNKSR2 ATP6V1A SYNGAP1 NECAP1 ACTL6B CLTC SCN3A FGF12 SYNJ1 GABRB2 UBA5 CELF2 CDK19 NTRK2 EEF1A2 HP_EEG_WITH_GENERALIZED_SLOW_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_GENERALIZED_SLOW_ACTIVITY TMEM106B PSEN1 PLPBP CLN5 RNF13 SYNGAP1 TREM2 CHD2 AP2M1 DPAGT1 SLC13A5 GRN SQSTM1 LMNB1 MAPT CHMP2B MECP2 CYP27A1 SLC2A1 CDKL5 NEXMIF C9orf72 KPTN VCP ALDH7A1 SLC6A1 SCN1A HP_EEG_WITH_SPIKE_WAVE_COMPLEXES_2_5_3_5_HZ http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_SPIKE_WAVE_COMPLEXES_2_5_3_5_HZ GABRG2 JRK CACNA1H SLC2A1 SETD1B GABRB3 GABRA1 HP_EEG_WITH_SPIKE_WAVE_COMPLEXES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_SPIKE_WAVE_COMPLEXES SCN1A DMXL2 GNAO1 CLN5 TRIM8 SCN9A AP2M1 PIGL EFHC1 GABRG2 SLC18A3 CDKL5 PSAT1 PIGO GABRD CASK SETD1B ARX GABRB3 SCN2A PRICKLE1 PI4KA CACNB4 PGAP2 VAMP1 CACNA1H SLC2A1 SNAP25 TBC1D24 CHAT PIGT HCN1 CLCN2 PIK3CA PIGQ COL13A1 NEUROD2 PIGV KCNMA1 SIK1 ADGRG1 GABRA1 PNKP KCNQ3 STX1B JRK ADGRV1 SRPX2 SYNGAP1 SCARB2 AGRN SCN1B CHD2 PIGW CSTB CILK1 PAFAH1B1 SYT2 MYO9A STARD7 SAMD12 PIGY NEXMIF AKT3 SLC25A1 KCNA1 GRIN2A SLC6A1 PIGP SLC5A7 CPA6 STXBP1 SLC25A22 PGAP3 AASS SYT1 HP_EEG_WITH_BURST_SUPPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_BURST_SUPPRESSION PNKP GAD1 PLPBP DMXL2 ARX GNAO1 SLC25A46 SCN1B TRIM8 CDKL5 FGF13 CUL3 SLC13A5 CASK STXBP1 SCN2A NSF UGDH AKT3 PIGS KCNA1 PNPO PIK3CA KCNQ2 ALDH7A1 PIGQ PIGP NEUROD2 ALG11 ALG14 SLC25A22 DPM2 SIK1 CYFIP2 HP_DELAYED_FINE_MOTOR_DEVELOPMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_FINE_MOTOR_DEVELOPMENT CDH2 KDM4B KAT8 FIG4 ITPR1 FDXR CNOT3 TET3 TNRC6B CLP1 CLCN7 POR CARS1 COL12A1 TUBB3 SNX14 CDC40 EBF3 APC2 SPTBN1 HP_RECEPTIVE_LANGUAGE_DELAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECEPTIVE_LANGUAGE_DELAY PALS1 JARID2 MYT1L KMT2E CCDC32 HUWE1 KAT8 DPYSL5 HS2ST1 BPTF ZMIZ1 PAK1 PUS7 DDX6 PTPN23 MED13 UBR7 WASF1 SH2B1 NTNG1 NTNG2 UBB ALMS1 WDFY3 EHMT1 DOCK3 RLIM ACTL6A MAPK8IP3 TRIP12 HPDL SLC12A2 SVBP FOXP2 TANC2 HTT MED27 BCORL1 GRIA4 SPATA5 KDM4B TNRC6B GRHL3 PSMD12 AGO2 FLCN TRMT1 CNOT3 TRAPPC4 ACTL6B KCNMA1 SATB1 FBXW11 TCF20 KMT2C MADD HP_INTELLECTUAL_DISABILITY_SEVERE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTELLECTUAL_DISABILITY_SEVERE FOXE1 SURF1 EML1 HDAC8 SATB1 KCNH1 GATAD2B NDE1 RAB3GAP1 NSUN2 AP4E1 MEF2C GRIK2 TAF13 AIMP1 ANKLE2 MBTPS2 C2CD3 OTUD6B WASHC4 SPTAN1 UROC1 AP4S1 CTNNA2 PPP2R5D SARS1 SLC9A7 HIVEP2 PHC1 CENPJ KAT5 METTL5 GRM7 KDM5B PYCR2 UBE4A FRMPD4 UFSP2 NDST1 PTCHD1 CDH15 EXT2 WASF1 STXBP1 ARX MGAT2 NIN GDI1 MECP2 SLC16A2 SCN1A DAG1 CSNK2B KATNB1 ZMYND11 MCPH1 TRAPPC9 TRPM3 SNRPN RAC3 PDHX ARG1 LARP7 CTBP1 SATB2 CRBN SLC12A2 SLC35A2 SLC13A5 MAN1B1 SYP TRAPPC14 DLG3 SLC26A4 DMPK NANS PLP1 SPATA5 PAK3 NAGA HNRNPU UNC80 TACO1 AP4M1 FKRP FGFRL1 LIPT1 SLC19A3 CACNA1D CPLX1 CUX1 ASXL1 SMARCC2 DYRK1A UBTF HNRNPK KIF7 B3GALNT2 NRXN1 RFT1 AMMECR1 NDUFS8 COG5 PQBP1 UBE2A ROGDI DMD KIF14 SLC35A3 DLL1 WDR62 FRRS1L DYNC1I2 ACSL4 SHROOM4 ZNF711 RAD21 CNKSR2 EPB41L1 MID2 PURA ARID2 SLC35C1 MBD5 L2HGDH RAB3GAP2 ATRX SLC9A6 DCHS1 CDC40 PGAP1 RAB39B KDM5C PGAP2 WDR81 DEAF1 PET100 BRSK2 ARID1B GCK RPS6KA3 LINS1 ALG13 CAMK2B OCA2 LMX1B RAB18 GRIA3 NDUFA12 SUCLG1 NDUFS2 SNAP29 NDUFS3 USP27X COX15 TOR1A DPAGT1 UBE3A HERC1 SETD2 TAOK1 GMPPB PDX1 GRIN2A KIRREL3 BRD4 HNMT GOT2 TSHR KIF5C ASH1L SYNGAP1 NDUFA13 RAB11A HTT KANSL1 CEP63 CDK5RAP2 MED12 ARFGEF2 NDUFS7 SPTBN4 IQSEC2 AP4B1 EEF1A2 PIGU TIMM50 KIF1A LARGE1 GNB5 GRIN2B TCF4 ERLIN2 SLC45A1 FKTN DPYSL5 UPF3B PIK3CA GRIN1 NKX2-1 PHF6 USP9X SDHA STAG1 GLI3 UBA5 CLCN4 FOXRED1 TBC1D20 PEX5 LETM1 PLEKHG2 NCDN ABCC8 NCAPD3 POMT2 COPB1 NDUFAF5 TMX2 CC2D1A CRADD ECHS1 SOX11 CAMK2A NSD2 SMARCA2 RPL10 THOC2 PIGL PCNA KAT6B PEX1 MT-ATP6 C12orf4 ZNHIT3 NKX2-5 SLC6A17 DYM ADGRG1 PAX8 EIF2S3 ZNF41 CLTC PIGV TRMT10A NFIX KCNQ5 RTTN NBEA ZIC1 INPP5E APC2 ZNF81 ACOX1 FTCD TELO2 MED25 NELFA NACC1 AGTR2 SNX14 ZC3H14 FTSJ1 PIGY LMAN2L NDUFA2 DPF2 TECR MED23 SHMT2 NIPBL CYB5R3 MTFMT MYT1L NTRK2 CDK6 CUL4B IQSEC1 SMARCB1 CLIP1 FOXG1 PPP1R15B METTL23 CEP152 TTI2 CUL3 VPS4A UBE3B PRSS12 TRAPPC6B FRMD4A SON SASS6 MFSD2A PAH PIGF ST3GAL3 ASPM GAMT CTNND2 DCPS POMT1 SOBP SETD1B ATIC YY1 KCNJ6 PTEN PUS3 PIGW FUCA1 TSHB UQCRQ POMGNT1 CYB5A FOXP1 TTC5 FBXO31 SMARCD1 PNKP RSRC1 PRMT7 PDHA1 SEMA5A TBR1 ZEB2 POGZ PIGG PGAP3 EZR OPHN1 ARID1A HSD17B10 STIL SOX4 SEMA6B SMOC1 ARHGEF6 PAK1 PCDH19 CHRNA7 KCNE5 EDC3 AP1S2 COPB2 EHMT1 CHAMP1 PIGT NSD1 TMEM231 SMARCE1 GABRA5 FMN2 BCAP31 NDUFA9 NDUFAF6 CEP135 PHYH CIC NEU1 ALKBH8 NDUFA10 CACNG2 PAFAH1B1 NDUFV2 KCNJ11 DNMT3A SMARCA4 ASXL3 STAT3 TNIK ACO2 AKT3 TSPAN7 KAT6A NDUFV1 TMEM107 HMGCL NDUFA4 STEEP1 RNF2 PIGC NDUFS1 PEX7 PIGO ALG14 KNL1 TBC1D23 NALCN L1CAM IL1RAPL1 WIPI2 SETBP1 MBOAT7 INS SMC3 TUBA1A GALNT2 AHSG SET SMC1A TMEM237 OFD1 PPIL1 THOC6 MED12L CTSD SRD5A3 CIT DLAT DOCK8 BRF1 FGFR3 ARHGEF9 NDUFS4 HCFC1 PPP3CA TUSC3 KLF13 NDUFAF2 ACAT1 DYNC1H1 NEMF FAT4 HP_SENSORY_ATAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SENSORY_ATAXIA PRX TWNK RNF170 EGR2 FLVCR1 MPZ PIEZO2 DNAJC3 PMP22 GPI NAGLU SH3TC2 HP_TENDON_XANTHOMATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TENDON_XANTHOMATOSIS LDLRAP1 TTPA CYP27A1 GHR APOE LDLR ABCG8 APOB PPP1R17 ABCG5 PCSK9 APOA2 EPHX2 HP_ABNORMAL_CIRCULATING_PROTEIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_PROTEIN_CONCENTRATION LARGE1 RAG1 NUP107 FLI1 IFNGR1 GNE GAA TNNI3 DPM1 NEFL CPA1 FOS ABHD5 SVIL HNF1A CRLF1 KCNJ11 PLN TNNT2 LMNA TK2 SMAD4 TTN LIPE STEAP3 LPL DAG1 AGPAT2 FKTN MSTO1 HINT1 CHCHD10 TSHB TRPV4 COG8 POLG2 CAV3 MYH7 RHCE INS DPM3 VCP TDP1 HNRNPA2B1 PTPRO PHKG2 GLRX5 ITGB4 DYSF MKS1 DMD MYH6 MAGI2 SGCB STAT6 PDX1 KBTBD13 PSEN1 GMPPB MIEF2 TWNK TNNC1 POMGNT1 AHCY UQCRFS1 TPM1 MYOT FKRP ANO5 PLEKHG5 SLC7A7 TFG OSGEP NCF1 TRAF3 INSR ACAD9 COL9A3 RFX5 RRM2B INF2 BVES FKBP14 FHL1 COL6A3 BCL7B PTEN PPARG PLA2G6 PIGA ATM B4GAT1 DSP QRSL1 NEB SLC25A20 IYD SLC19A1 AIFM1 MYH14 POMT1 ALB NPHS1 OCRL FAH AFP LDHA SIL1 TLR3 IL1RN SPINK1 ELN POMK TANGO2 EIF4H COL4A1 B3GALNT2 LPIN1 CEL NPHS2 SLC33A1 INPP5K FTL CRPPA USB1 CCDC115 UNC93B1 TPM2 SLCO2A1 RAG2 BUD23 NLRP3 RYR1 DGUOK MEFV DHX16 PKLR MIF PSMB8 CLDN3 TCAP COL6A1 SGCD PMM2 SYNE2 NUP205 SLC16A1 LYST TBCD PHKA1 MYPN GATB FGFR3 CCND1 LAMA2 TMEM165 HAVCR2 IL6 PLCE1 IRF5 CSRP3 CPT2 FLNC IL36RN QRICH1 ACTC1 ATP6V1E1 PIK3R5 MTTP TRAPPC2L TRMU AR FAM111B PET100 MYBPC3 TPO POMT2 LIMS2 TMEM270 RXYLT1 FTH1 STIM1 SUCLA2 CRYAB CASR UBR1 WT1 TRAPPC11 NUP133 SAR1B ABCC8 BCS1L RNASEH1 STAT2 SYNJ1 PYGM KCNJ18 HLA-DRB1 PRSS2 SLC25A13 PIEZO1 GCK PRF1 DNAJB6 CSF2RB TIMM22 RFXANK HADHA GNPTG HNRNPDL GOSR2 SCN4A SLC40A1 TAF1A VCL SBDS TRIP4 NUP85 LAMA1 SLC34A3 METTL27 MYF6 LMOD3 LDB3 RBCK1 BCL10 FARSB STING1 CHKB TOR1AIP1 CAP2 TIA1 SLC34A2 FARSA ZBTB20 FLAD1 C19orf12 DCLRE1C TFAM DUOX2 MPZ TNFSF15 DPAGT1 CFTR PLEC GATAD1 DNAJC21 SQSTM1 RFC2 CTRC ITK NOS1 LAMP2 TKFC XK ITGA7 DSG2 HADHB FRG1 COG7 MYO1E PRTN3 COL12A1 NGLY1 TMPRSS6 MET ITGA3 CLIP2 TNPO3 COQ2 ABHD11 POLG MCM10 TICAM1 APOL1 ORAI1 FDX2 HLA-DQA1 TAFAZZIN CCBE1 MATR3 STX1A CRB2 SETX BMP2 KY IL12RB1 TMEM199 KCNA1 LTBP4 AASS NOTCH2NLC TRPC6 DOLK B4GALT1 PNPLA2 CTNNB1 APOC2 AP1S1 LACC1 ALG6 MGME1 PIGY MICU1 KLF11 COA7 GNPTAB APPL1 VPS33A DNM2 SUGCT CASQ1 STX11 ACTA1 GTF2IRD2 IL37 ALDOA TRHR SGCA GFPT1 DUX4 HJV POU2AF1 KCNE3 PTPN22 COL7A1 VPS37D ACTN2 ARHGAP24 DMGDH PRSS1 CSF2RA SPIB GFER MPV17 GTF2I PPCS CFL2 UROS HLA-DPA1 PDK3 DOK7 CAPN3 UCP2 SLC25A38 TMPO CAVIN1 HFE ALG1 RFXAP SGPL1 SGCG BMPR1A AGL ANKRD1 ENO3 MT-TE ISCU TBL2 NR1H4 MAD2L2 COPA GABRA3 OTUD5 EMD SLC35A2 PYROXD1 HSPG2 CIITA WDR4 ERGIC1 B2M ABCC9 ACADVL COX16 TBC1D8B PIGN CACNA1S POMGNT2 DPM2 LAMA4 ACADM DNAJC30 PUS1 ATP6V1A VPS13A NARS2 UBA1 KLHL41 PRKCD MTMR14 ARHGDIA SERPINE1 RNF168 ISCA1 PSTPIP1 XIAP IL12A SLC25A42 EIF2AK3 SLC5A5 DNA2 PRPS1 NAB2 ACTN4 TSHR COX20 TMTC3 PHKA2 CD244 NPPA IL10 DAAM2 CD2AP SLC30A10 PLG COQ8B HNF4A COL6A2 FN1 HADH SRP54 TSFM MT-TL1 RHD BSCL2 HNRNPA1 SLC22A4 TET2 KRT14 MICOS13 C2orf69 MPI SDHA PEX6 CPT1A KIT ALG8 GATC NFS1 IL6R BAG3 KCNN4 ADSS1 RAF1 ANKFY1 CTLA4 COG2 SMCHD1 WDR73 MT-TN NOS1AP GTF2IRD1 NUP37 ATP5F1D STK11 MVK C1QBP GIPC1 DNMT3B FOXP3 NUP160 AP5Z1 LAMB2 OTULIN NLRP12 STXBP2 ANLN POPDC3 TXNRD2 GPR35 NLRP1 TMEM43 NEXN TFR2 COL4A3 RBM20 RASA1 SYK PIEZO2 PRDM16 PGAM2 PAX2 PDSS2 RHAG TF TCF4 TBK1 BLK CPOX NLRC4 MYMK KLHL9 GAPVD1 PAX4 GATA1 AP1B1 ADA2 HLA-DQB1 IFNG POGLUT1 COG6 APTX HLA-DPB1 AGXT SEMA4D VMA21 EFL1 SLC25A4 EMP2 ALG2 PLVAP MT-TL2 ALG14 NFKBIL1 PITRM1 TTC37 CNBP BIN1 NUP93 UNC13D DES SYNE1 ITGA6 KRT5 CNOT1 LAT2 NEUROD1 FHL2 PABPN1 TG SCN5A TRIM32 DGAT1 SQOR PGM1 TMPRSS15 CD55 TPM3 NEFH LIMK1 CP NSUN2 BAZ1B HBB HAND2 MMEL1 HAMP DUOXA2 MST1 PSEN2 MT-TS1 CAV1 ALG12 SDHD FKBP6 CLDN4 MLXIPL DCXR SLC4A1 ATP6V0A2 IGFALS TNFRSF1A LRP12 HP_INCREASED_NUCHAL_TRANSLUCENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_NUCHAL_TRANSLUCENCY BAZ1B GTF2I HDAC8 ODC1 BUB3 FIG4 BUB1B BUB1 GTF2IRD1 CLIP2 BMPER ABHD11 CEP57 GPC6 SMC3 PIGN VAC14 ELN DHCR7 SMC1A GTF2IRD2 EIF4H HNRNPK LAT2 STX1A NCF1 RFC2 FKBP6 CLDN4 DNAJC30 VPS37D ADARB1 MYLPF TRIP13 MLXIPL FGFR3 BRD4 LZTR1 BUD23 ATN1 TMEM270 CSGALNACT1 METTL27 BCL7B NIPBL TBL2 LIMK1 CLDN3 RAD21 HP_ABNORMALITY_OF_THE_UMBILICAL_CORD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_UMBILICAL_CORD MUSK WT1 MKS1 PIGL F7 GATA6 PACS1 PIGO ADGRG6 SMARCD2 HSPG2 POR NRAS FANCF FANCB HOXD13 PGAP2 ZMPSTE24 FOXF1 ITGB2 ZNF699 MCTP2 PIGV WNT3 F13A1 TAPT1 QRICH1 PHGDH FCGR3B PIGW LMNA RAC2 F13B PIGY CCDC22 WASHC5 SCARF2 MYD88 SERPINE1 DDX6 PGAP3 HP_AVASCULAR_NECROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AVASCULAR_NECROSIS ATP7A TRPS1 MATN3 SIL1 UBAC2 SH3PXD2B COL2A1 IL10 GBA SLCO2A1 IL23R PTPN11 ACAN DVL1 IL12A DVL3 CREBBP ORC1 PARN TERT RTEL1 DKC1 NOP10 MEFV COMP HBB COL1A1 NTRK1 CCR1 WRAP53 CA2 ZMPSTE24 KLRC4 ADAMTS2 SLC2A10 TERC STAT4 ARSB USB1 PHF6 IL12A-AS1 TRPV4 LMNA TONSL C4A LMX1B EXT1 NHP2 DYRK1A FAS HPGD ACTB SMAD3 TINF2 MAN2B1 COL1A2 ELP1 KRAS HLA-B UNC45A CTC1 WNT5A USP8 ACTG1 NPM1 ADAMTSL2 ERAP1 SRCAP TREX1 CDH23 INPP5K FZD2 EP300 FN1 UFSP2 SCARB2 TLR4 CLCN7 FGFR1 HP_ABNORMAL_CIRCULATING_BRANCHED_CHAIN_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_BRANCHED_CHAIN_AMINO_ACID_CONCENTRATION BCKDK BCKDHA MCCC1 DBT MCCC2 BCKDHB DLD BCAT2 HP_ABNORMAL_CIRCULATING_PHENYLALANINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_PHENYLALANINE_CONCENTRATION GCH1 PCBD1 PTS FTCD PAH QDPR SPR HP_ABNORMAL_CIRCULATING_SERINE_FAMILY_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_SERINE_FAMILY_AMINO_ACID_CONCENTRATION SARDH SUCLG1 PSPH GLYCTK PET117 AMT SLC30A10 MMAA PCCA SLC7A7 PSAT1 GLRX5 MMAB GCSH PHGDH SLC25A13 MMUT GLDC PNPO COX8A PCCB NFS1 ALDH4A1 IRF6 HP_ABNORMAL_CIRCULATING_GLYCINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_GLYCINE_CONCENTRATION SUCLG1 GCSH GLYCTK PHGDH PET117 MMUT AMT SLC30A10 MMAA GLDC PCCA PNPO COX8A PSAT1 PCCB SLC7A7 GLRX5 NFS1 ALDH4A1 MMAB IRF6 HP_ABNORMAL_CIRCULATING_ASPARTATE_FAMILY_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_ASPARTATE_FAMILY_AMINO_ACID_CONCENTRATION MTRR SLC25A13 NADK2 GNMT AASS TTC37 MMACHC MMADHC ADK FAH PRDX1 AHCY GUCY2D PNPO MTHFR CBS MTR MAT1A HP_ABNORMAL_CIRCULATING_METHIONINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_METHIONINE_CONCENTRATION MTRR FAH PRDX1 SLC25A13 MMACHC AHCY MTHFR CBS GNMT TTC37 MTR MMADHC MAT1A ADK HP_ABNORMAL_CIRCULATING_GLUTAMINE_FAMILY_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_GLUTAMINE_FAMILY_AMINO_ACID_CONCENTRATION GLUL NAGS CPS1 NDUFB10 MDH1 PRODH ASL COX5A ARG1 OTC SLC7A7 PDP1 TALDO1 TNFRSF11B SLC25A13 COX16 COX10 NDUFC2 PNPO ALDH4A1 ASS1 HP_ABNORMAL_CIRCULATING_GLUTAMINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_GLUTAMINE_CONCENTRATION TALDO1 OTC GLUL SLC7A7 SLC25A13 COX16 ASL NAGS ASS1 HP_ABNORMAL_CIRCULATING_PROLINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_PROLINE_CONCENTRATION COX5A TNFRSF11B SLC7A7 NDUFB10 COX16 ALDH4A1 PRODH COX10 PDP1 NDUFC2 HP_ABNORMAL_CIRCULATING_ARGININE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_ARGININE_CONCENTRATION CPS1 ARG1 SLC25A13 ASL ASS1 PNPO HP_ABNORMAL_CIRCULATING_PYRUVATE_FAMILY_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_PYRUVATE_FAMILY_AMINO_ACID_CONCENTRATION NDUFS4 RRM2B TMEM70 MT-ND2 KARS1 NDUFB10 PDHX TRMT10C MICOS13 CA5A MT-TL1 COX5A MT-ND5 NAGS TMEM126B FBXL4 PNPLA8 MIPEP MTO1 SLC25A13 FBP1 COX16 MT-ATP6 MT-TW COX10 NDUFC2 MT-ND6 ATP5F1A NFS1 POLG ALDH4A1 MT-ND3 COQ9 PDHA1 SLC7A7 MT-ND1 PC MT-TK NDUFA13 PDP1 UQCRC2 MT-TV COX6B1 MT-ND4 TYMP SCO1 COX8A MRPL3 LIPT2 HP_ABNORMAL_CIRCULATING_TYROSINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_TYROSINE_CONCENTRATION FAH SLC25A13 HPD PNPO TAT HP_ZONULAR_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ZONULAR_CATARACT SF3B1 SLC2A1 MAF KIAA1549 BFSP1 RTN4IP1 GALK1 GJA3 CRYBB1 CRYBA4 HSF4 BAP1 IMPG2 GNAQ NHS SEC23A RECQL4 OCRL MIP MVK NF2 FTL GNA11 WFS1 CRYBB2 CRYBB3 VIM BEST1 CRYGC CYSLTR2 GJA8 OPA3 CRYBA1 LIM2 CFAP410 CHMP4B HP_ABNORMAL_BLOOD_INORGANIC_CATION_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_INORGANIC_CATION_CONCENTRATION GCM2 SDHD GTF2I KCNJ1 SLC12A1 GTF2IRD1 GNA11 STX16 KCNJ18 CDKN2B VHL CNNM2 SLC30A10 GNAS RYR1 TNFRSF11A SLC3A1 ESS2 FOXP3 CASR TBCE TMEM127 TBX1 SDHB TNFSF11 FAM111A APC2 KCNJ10 HADHB RET SNX10 METTL27 TBL2 CLDN19 CLCN7 DGCR8 CHD7 GABRA3 CAV1 FARSB MEN1 SDHC CDC73 CYP27B1 NOTCH3 SLC12A3 DLST CLCNKB ADAMTS3 CLDN10 HLA-DRB1 MAX CACNA1S IFT122 NCF1 ALDOB RFC2 BTK GNAS-AS1 CYP3A4 DNAJC30 PDGFRB CDKN1B DNMT3A PIK3C2A PDE4D CLCNKA ALG12 BCL7B PLVAP SLC5A1 CACNA1C MDH2 SEC24C CYP2R1 HLA-DQB1 GATA3 COMT SEMA3E JMJD1C HADHA CLIP2 FAT4 RMRP ABHD11 EGF SLC4A1 CLDN16 UBR1 ACADVL PIGT DGCR2 NSD1 ELN ORAI1 CYP24A1 CSF1R BSND EIF4H CAMKMT LAT2 STX1A SLC39A14 VDR BTNL2 PREPL FGF23 SETD2 SLC34A1 MLXIPL KIF1B PTH BUD23 DGCR6 OSTM1 HIRA LIMK1 CLDN3 SLC39A8 PRKAR1A PCBD1 BAZ1B TRPM6 TCIRG1 FXYD2 CTNS CCBE1 PPM1B UFD1 TRIO CCND1 PTH1R AP2S1 GTF2IRD2 GP1BB KL LDHA EPAS1 SDHA FH CDKN2C HLA-DQA1 FKBP6 ARVCF ATP1A1 CLDN4 CDKN1A VPS37D SARS2 SLC25A11 SDHAF2 RREB1 TMEM270 CDKN1C ALPL NF1 HP_ABNORMAL_BLOOD_MONOVALENT_INORGANIC_CATION_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_MONOVALENT_INORGANIC_CATION_CONCENTRATION SCN5A SHH CYP11A1 SIX3 ABCB6 KLHL3 KCNJ1 CLCNKB RYR1 SLC12A1 EIF2AK3 CLCN2 KCNJ18 SCNN1A FGFR1 NDUFAF6 NFKB2 SCNN1G AVPR2 SCN4A STIL BSND TLR3 ALG8 TP53 CYP11B2 GLI2 PRF1 PKHD1 TICAM1 SMAD4 HSD11B2 SCNN1B CYP11B1 NNT AQP2 HMBS TXNRD2 ZIC2 NUP214 LPIN1 CACNA1C CTNS AKAP9 KCNQ1 CA12 KCNJ5 INSR BMPR1A SNTA1 SAMD9 WNK4 KCNE2 UNC93B1 TBX19 KCNJ10 KCNH2 CACNA1S TBX5 WNK1 SYK MAGED2 TRDN SLC34A1 GABRA3 USP8 SCN4B FXYD2 CALM2 TBK1 AIP GATM LYST SLC30A9 SLC2A1 EHHADH DZIP1L CALM3 CUL3 SLC12A3 CDH23 NR0B1 ATP6V0A4 CPOX MC2R NR3C1 STAR DISP1 SLC26A3 SCN10A ANK2 ALAD FGF8 ALG12 CLDN10 ALDOA KCNE1 CACNA1D CYP17A1 CALM1 MRAP TRAF3 ELP1 ATP1A1 CASR UNC45A COL3A1 KCNE3 KCNN4 NOS1AP PIEZO1 SLC4A1 PPOX SARS2 SLC2A2 HSD3B2 DSG1 CLCNKA KCNJ2 TDP2 INVS NR3C2 CAV3 OCRL ARNT2 PLVAP SLC5A1 HP_ABNORMAL_BLOOD_SODIUM_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_SODIUM_CONCENTRATION CLCNKB SHH CYP11A1 SIX3 CTNS TBK1 EIF2AK3 LYST FGFR1 NFKB2 SCNN1G DZIP1L AVPR2 STIL SCNN1A NR0B1 BSND TLR3 CPOX ALG8 CYP11B2 MC2R GLI2 PRF1 PKHD1 STAR TICAM1 DISP1 SLC26A3 ALAD FGF8 ALG12 NNT AQP2 HMBS TXNRD2 ZIC2 NUP214 MRAP TRAF3 CA12 ELP1 SAMD9 PPOX SARS2 SCNN1B UNC93B1 SCN4A TBX19 HSD3B2 DSG1 CLCNKA SYK TDP2 NR3C2 OCRL MAGED2 ARNT2 PLVAP SLC5A1 HP_ABNORMAL_CIRCULATING_NUCLEOBASE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_NUCLEOBASE_CONCENTRATION PPARG HMGCL CTNS ALMS1 HNF1B GPHN SLC37A4 HPRT1 NDUFAF6 EHHADH MUC1 XDH PNP MOCOS SH2B1 PFKM PRPS1 FBP1 CLDN16 UMOD SLC2A9 SLC22A12 SEC61A1 ALDOB TNFRSF11B REN MYC MOCS2 LMAN1 GATM MOCS1 MCFD2 HNF4A SARS2 SLC2A2 G6PC1 TNFRSF11A ACAT1 SLC34A1 HP_ABNORMALITY_OF_THE_LOWER_URINARY_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_LOWER_URINARY_TRACT WNT4 ATR ATP7A COL1A1 MKKS PIGA COLEC10 RTN2 FANCB ATXN3 MAMLD1 KANSL1 TAF13 LAMB3 ITGA6 RERE OBSL1 SMAD4 ERCC8 AVPR2 HLA-DQB1 TNXB PHC1 CENPJ AQP2 KAT5 METTL5 PYCR2 MYRF GATA1 SPEN ATXN10 PEX3 MAP2K1 SMAD3 ZEB2 NEXMIF CHRNA3 KIF5A SIN3A PEX12 PIK3CA POLG2 LMOD3 EYA1 SPG11 RPS27 VCP ATL1 DYNC2H1 ERCC4 PDGFRB PINK1 NR5A1 TMEM70 DBH LRIG2 GRIP1 SCN9A TBP PIGN FIG4 CTBP1 MKS1 PRKCZ PLAG1 GLI3 PARN SYP STAT6 SUCLG1 FAT4 TRAPPC14 SALL4 DLG3 ARCN1 NDUFA8 VAC14 ZNF699 MAP3K1 HNRNPU GPC3 ATPAF2 CDT1 RARB PLD1 MED12 EHMT1 CABP4 HSPD1 LAMC2 PQBP1 CHMP2B EXT1 RPS29 ITGB4 PAX2 RPS10 LMOD1 COL1A2 NCF1 B9D1 FDFT1 POLE ATRX WASHC5 HPSE2 SLC25A10 PPOX HNRNPK CHST14 DPH1 PEX19 RRM2B SETBP1 PAX6 COG5 DNAJC19 EIF2AK2 SMARCA2 UBE2A FLNA BCL7B ACTG2 RPS24 MYLK ACSL4 ZNF711 CNKSR2 KLHL41 MYH11 MID2 BICRA ARID2 CYP11A1 ACER3 COMT PDE4D MAPRE2 DVL1 SLC9A6 DCHS1 BRCA2 COG1 POR FBXL4 CDC45 FBXO7 WDR35 ATXN8OS SRCAP ORC4 SRY CAPN1 ELN ARID1B SACS RPS6KA3 RSPO1 GLI1 EIF4H KIFBP HMGA2 NEFL BNC2 USP27X WFS1 KIF1A B9D2 PLP1 JAG1 CDH11 TMEM94 AFF4 FUZ BPTF BRD4 BUD23 HOXA13 VANGL1 CISD2 HIRA PSAP CDK5RAP2 DACT1 CLDN3 TBX1 PTDSS1 SETD5 SIX1 TMEM216 SNCA GJC2 TIMM50 SYNGAP1 AR MED27 HSPG2 TBCD CCND1 PEX11B FERMT1 CC2D2A SOX9 ZMPSTE24 KDM5B HPRT1 NAA10 PIGO SDHB ERMARD USP9X ADAT3 CYP17A1 PIK3R5 CLCN4 ATP13A2 FGF10 GBE1 ISL1 SDHA UNC45A LRRK2 SOX2 SPAST GBA2 KLHL40 CCL2 IGF2 VPS11 LMNA BRCA1 TMEM270 SLC20A2 NFIA PDPN TBXT NR2F2 KMT2C CHRM3 CEP290 RAD51C UBR1 NDUFS4 RPS28 GATA4 RPL10 MAPT ZMIZ1 GPC4 TRPV4 POLR3A RIPPLY2 RPL18 DSTYK PEX1 DYNC2LI1 ESCO2 KCNJ18 TCTN3 SIGMAR1 KCNT1 PEX26 ZNF41 ADH1C KCNQ1OT1 HEXB RTTN KDM1A AKT1 MESP2 ZNF81 LSS BAP1 FITM2 EIF4G1 SLX4 ABL1 NELFA IFT80 PLEC FLVCR1 RAC1 MID1 BMP4 MARS2 FGFR3 FTSJ1 PAK3 ARX EFEMP2 METTL27 MYF6 VAMP7 NOTCH3 AUH MAP3K7 GBA PSMD12 REEP1 SH3TC2 CHRNA2 CYB5A CACNA1G PPP1R12A CDC6 CEP152 NIPA1 PEX5 EPG5 HMBS SASS6 GABRB3 IGHMBP2 CARMIL2 FGFR1 ASPM HSD3B2 SLC2A1 NDUFB11 KCNC3 PPP3CA TFAP2A CDC42 EN1 TBX22 FGFR2 LUZP1 TRAF7 MMP1 RPS26 DNAJC13 TRPS1 RFC2 UPB1 ATXN2 IKZF1 UBE2T B3GLCT HS6ST2 PIGQ RAD51 OGT NOTCH2NLC ALG12 NOTCH2 ORC6 SQSTM1 SP110 DDX6 PIGG ARID1A COG7 TMEM237 FBLN5 FA2H TMEM107 CLCNKB FMR1 ARHGEF6 HLA-B HCCS CLIP2 SNCAIP EVC ALDH18A1 FANCE ABHD11 ABCD1 SCUBE3 FLT4 CLMP NSD1 LETM1 DARS2 MFSD2A SMARCE1 BDNF FANCI CCBE1 DDHD2 CEP135 COL3A1 STX1A SETX KY CREBBP CCDC8 SAMD9 COQ2 RPS19 SLC35A2 HES7 COL5A1 SMARCA4 FANCL ARSA DEPDC5 ACTA1 ASXL1 RBBP8 HYLS1 SIX6 SOX17 RPL11 MTOR SBF1 STEEP1 B4GALNT1 RIN2 TP63 KNL1 ALG9 DNM2 UFD1 TRIO IL1RAPL1 STAMBP SMC3 GALNT2 ALS2 IFT57 WRAP53 RALGAPA1 CSPP1 TAPT1 SMC1A GTF2IRD2 SLC5A2 GP1BB DNMT1 PDGFB DYRK1A CIT CHD4 REEP2 PIEZO2 COL7A1 VPS37D MTFMT MECP2 GABRA1 KCNJ10 FANCD2 SPG7 FUS PKP1 WNT7A CUL4B PEX6 GTF2I HDAC8 BUB1B LFNG ADA2 HNF1B MYCN TTR TERT WWOX HOGA1 HOXD13 SPOP ANKLE2 MBTPS2 GPR101 MMP23B RAF1 MCTP2 FAR1 C2CD3 MED25 SLC9A7 SPTBN1 NHP2 TCTN1 FRMPD4 ZFYVE26 GREB1L PEX10 CDKN1C PTCHD1 KIAA0753 FREM2 EFNB1 AIP COX7B TBL2 MCPH1 SHANK3 DMRT3 RFWD3 TRAPPC12 EP300 GIGYF2 KRAS DYSF STRA6 NKX2-1 GABRA3 OTUD5 TUBB CARS1 PEX16 SMS BRAF RPS20 SSR4 GABRG2 DKC1 AP5Z1 CACNA1H ALMS1 ADNP DVL3 FARS2 RPGRIP1L FGFRL1 MPZ APRT CPLX1 MED12L COL18A1 TMEM67 MNX1 GLUD2 VANGL2 PDCD1 HUWE1 KIAA0586 TINF2 DHX37 RPL26 SMARCC2 PUF60 SYNE1 DNAJC30 GMNN MAB21L2 KIF7 SALL1 ERLIN2 COL5A2 FKBP14 NRIP1 CHD7 POLA1 DMD KIF14 PTPN11 MTMR14 TXNDC15 WDR62 ARNT2 EVC2 CLCN6 RNF168 RAD21 RECQL4 ATXN1 CCNQ SEC24C GATA3 SPECC1L NEB RPL27 JMJD1C MYO1H MYL9 NAB2 RAB39B SDHAF1 CRH GDI1 CFAP43 ZFPM2 NIPBL KMT2D ALG13 CUL7 GJA1 PBX1 NSUN2 SMCHD1 FANCA BICC1 RPL15 DHCR7 SETD2 UBE4B CDCA7 CCDC22 UBA1 PLOD1 TGFB1 CEP63 PRKAR1A SMO HNRNPA1 ARL6IP6 IQSEC2 HPDL MYMK GALC KCNQ1 PRDM8 PRNP TBCK SLC25A13 RPL31 NPHP3 PEX2 UPF3B SIAH1 RASA1 WNT3 ZC4H2 TONSL VPS35 STK11 HSD17B3 FANCF JRK KDM6A SIX5 PEX14 CHRNG ARVCF PMP22 CTC1 NR0B1 MYOCD NCAPD3 COPB1 RREB1 FZD2 RPS17 HAAO SOX11 CILK1 CHRNB2 SDHD EXT2 NSD2 PSPH CHRNA4 RPS15A BCOR WT1 TMEM231 GTF2IRD1 DKK1 UBAP1 RPL35 TERC FOXF1 RPL35A DYNC2I1 WNT5A AGTR2 RAC2 TSR2 PITX2 APC2 LMNB1 DYNC2I2 DPF2 GATAD2B SEMA3E CPT1C CDK6 SMARCB1 KARS1 XRCC2 DLL3 MORC2 TMEM63A RPL5 PCNT SLC12A3 NOP10 SRD5A2 DSE CYP21A2 TTC8 CACNA1S KCND3 FXN FANCC AGXT ORC1 HBA2 PAH NPM1 LAMA3 SUFU SMARCD1 EPHB4 SLC25A4 PRMT7 MAD2L2 SLC44A1 HLA-DRB1 PANK2 HSD17B10 STIL SOX4 TYROBP STAR COLEC11 ZIC3 TTC37 POLG BIN1 FOXC1 RETREG1 SH2B1 MTM1 COPB2 ROBO2 FAM20A RPGRIP1 NCAPG2 HTRA1 LAT2 NBN HSPA9 KCNAB2 RLIM NF2 MLXIPL RPS7 TSPAN7 STAT1 HNRNPA2B1 FOXP1 LIMK1 STUB1 SKI FRAS1 TRRAP BAZ1B C19orf12 NR4A2 ERCC6 RYR1 LIG4 EBF3 KDM3B RTEL1 SPART CASZ1 ELOVL1 PRDM16 CYP7B1 HBA1 LTBP4 HACE1 PEX13 USB1 SLC1A4 ATP6AP2 THOC6 TWNK FKBP6 CLDN4 FANCG PNPLA6 HCFC1 TCTN2 BRIP1 SMG8 GABRD FANCM PALB2 HP_ABNORMALITY_OF_THE_NASAL_SKELETON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASAL_SKELETON PTCH1 PDE4D SIX3 TGIF1 PPP1R12A PRKAR1A USH1G BRAF TONSL SLC25A24 CTNNB1 UBA1 HP_ABNORMALITY_OF_THE_EXTERNAL_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_EXTERNAL_NOSE ATR RNU4ATAC PIGA MGP DIS3L2 BUB1B CCDC47 PCARE GATAD2B EIF2S3 KMT2D VPS51 RNASEH2A ALG13 BMPER TUBGCP6 HNRNPK PEX13 APC KANSL1 TCTN3 PLEC RERE OFD1 DLL1 TDGF1 OBSL1 PAX7 GLI2 ARSL ABCC8 RPS6KA3 DHCR24 CEP41 ADAMTS3 SMOC1 KAT5 IER3IP1 BRAF NAA10 CENPF ANKRD11 AIMP2 SPEN SIX3 AGA ZEB2 NEXMIF SIN3A EXT2 IFIH1 ZSWIM6 SAMHD1 COG4 SC5D ASXL2 FOXH1 INPP5E KCNA1 CSGALNACT1 NXN SLC6A1 LMNA FGF8 ATP6V1B2 KDF1 ALDH18A1 KIAA1549 IDH3A SAG MAP2K2 MIR140 TMEM70 SLC25A46 TCTN1 RAC3 AKT1 GRIP1 PIGN FIG4 COL11A1 ZIC2 KCNJ2 CDON PRKCZ ACTB CDKL5 IMPG2 TOPORS PEX6 GUCA1B SYP SHH NALCN TMEM67 DLG3 KIAA0753 STXBP1 PAK3 VAC14 ZNF699 IFT88 CTCF ROR2 MEG3 GPC3 PHIP DOCK7 MAPK8IP3 PQBP1 SIK1 GJA5 EXT1 TMEM237 ERCC2 ATP7A CREBBP CERT1 ERCC4 B9D1 INSR SPATA7 ATRX TGIF1 KIF15 TRIP11 CLIC2 BRCA1 PIK3C2A FAM149B1 AMMECR1 CLP1 SETBP1 FBN1 GBA GNS CD96 UBE2A NF1 GREB1L PTCH1 TRPS1 DISP1 SCN1A ARID1A CHN1 ACSL4 ZNF711 ADNP ROM1 CNKSR2 TBL1XR1 MID2 DMXL2 BICRA ARID2 SNAP29 PPP1R21 SCYL2 BUB1 AHI1 SLC35C1 COMT RAB3GAP2 DONSON PDE4D ARL3 DVL1 SLC2A10 C12orf57 CEP152 COG1 FGFR2 FBXL4 CDK10 PGAP2 GDF11 KIAA1109 USH2A ARID1B EYA1 TBCE NHEJ1 NODAL PDE6G ABCA12 LMX1B RAB18 PACS1 GLUL HRAS TULP1 USP27X B9D2 SMARCA2 CDH11 TOR1A LIG4 TMEM94 AFF4 PPP2R1A FGFR1 COL11A2 CNGA1 FSCN2 IDUA ECEL1 CENPJ BRD4 DHX38 KAT6A MKS1 HIRA DLK1 MED12 PPP1CB HNRNPH2 ATN1 PMM2 TBX1 CC2D2A LHX4 SETD5 ATP6V1A TMEM216 ODC1 COL1A2 LMBR1 TBX4 MED27 SIM1 HSPG2 PHGDH KIZ SLC26A2 DZIP1L RLBP1 EHMT1 SMG9 MAP2K1 CAMTA1 TCF4 ZMPSTE24 SMC1A KDM5B AUTS2 PIGO RALA CASK MAB21L1 IGF1R KCNN3 USP9X EXTL3 QRICH1 ADAT3 ATP6V1E1 CPT2 SUFU CLCN4 CANT1 CFAP418 TUB KIFBP KCNH1 AP4M1 EDN3 KLHL15 RTL1 RBP3 PAX3 EIF5A CEP57 TWIST2 EDEM3 GHR PGAP3 NFIA MN1 SMARCB1 PDPN LTBP3 IL2RA CEP290 UBR1 RPL10 SMPD4 ZMIZ1 GPC4 KIF11 BUB3 BMP2 PIGL CA4 POLR3A ARL2BP RIPPLY2 POR ARMC9 FOXC1 DEAF1 KAT6B PEX1 DNMT3B PHF21A SLC25A24 ABCC9 ESCO2 ATRIP BCOR ESS2 ZNF41 OCLN PIGQ STAT5B NFIX TRIO ITCH ADSL KDM1A PPP2CA MESP2 ZNF81 GLI3 HOXB1 EYS SMC3 FGD1 RARB ATP6V0A2 ALX1 CHD2 TBCK LRPPRC ERF PRKACA KMT2B RAC1 MID1 HPDL ADAMTS18 TRAF6 PRKAR1A PRCD NFKBIA IFT43 RNF135 FTSJ1 MGAT2 CEP104 COL1A1 RPGR FTO CEP120 MAPK1 PEPD MADD MAP3K7 CKAP2L SLC6A9 MUSK PEX14 HECW2 FOXG1 PEX26 EDA ZC4H2 SPRTN CWC27 TRAIP UBE3B ZBTB20 SEC23A PTEN TUBGCP4 NACC1 DOCK6 PDE6D XPA SUZ12 SH3PXD2B TFAP2A CDC42 RP9 LUZP1 WDR19 GJA1 KDM4B KCNJ6 DPYD WNT5A PIGW XPC KCNJ5 SCAPER TAF1 B3GLCT EBP DDB2 CCNK CRKL FOXP1 SOX10 FMR1 IFT122 NOTCH2 CPLANE1 WAC RBM8A CHRNG COL3A1 INPPL1 SLC25A22 TGFB3 PROP1 TMEM107 ZPR1 DHX37 PRKACB RNASEH2C NGLY1 STAG2 PAX1 SHOC2 ARHGEF6 SMARCAL1 THOC6 SCN2A RMRP KCNE5 POGZ EFTUD2 LRAT ZBTB24 MEGF8 MYH3 DGCR2 KDM6A LETM1 PEX12 IFT172 NEUROD2 SMARCE1 POLD1 SYT1 CENPT MBTPS2 WDR26 PEX2 GJA8 PRPF8 DDR2 HGSNAT MRAS CCDC8 PAFAH1B1 FREM1 IFT140 PEX5 HES7 DNMT3A SMARCA4 SLC2A1 PSAT1 LAS1L EXOC2 MYO18B KATNIP RIPK4 ANKRD17 SALL4 BEST1 FAM20C IQSEC2 PYCR2 PIGY XYLT1 RPGRIP1L FGF3 STEEP1 GNPTAB CLCF1 TBC1D23 ALG9 FRMD4A UFD1 SNRNP200 IL1RAPL1 NEK2 AHR ERCC3 KIF1A IGF1 RALGAPA1 SOX4 TAPT1 TBX6 GP1BB METTL5 RP1L1 SKI DYRK1A RNF125 TMEM231 EDAR HDAC6 BRF1 TWIST1 PCNT FGFR3 EDA2R PLOD3 NPHP1 PPP2R3C EFEMP2 KCTD1 AP4S1 SNX14 WDR35 PTH1R NOG CUL4B TCTN2 PROM1 EXOSC1 HDAC8 B3GALT6 SATB2 LFNG KCNJ8 KRAS WRN ALX3 INTS1 RAB3GAP1 AP4E1 MAN1B1 MEF2C RBBP8 EXOSC2 SOX3 SPOP PEX10 DDB1 MMP23B BPTF PKHD1 EDARADD MCTP2 PEX3 CRIPT SLC9A7 IDH3B SPTBN1 TXNL4A BANF1 FRMPD4 AGL ATIC PTCHD1 FREM2 EFNB1 SUMF1 ARX ARL13B CENPE PPM1D NUP188 DDX3X AIFM1 GNPAT PIGP SHANK3 EP300 PYCR1 ZNF423 CBY1 KCNJ11 RGR PRPF31 CRX PRPH2 SMS SMARCC2 WDR4 RET UNC80 DVL3 FGFRL1 COL2A1 CPLX1 MED12L RUNX2 REEP6 HUWE1 FOXA2 ASXL1 CNGB1 ARHGEF18 PDHA1 SEMA4A FH SRCAP CEP55 HDAC4 BCR MMP2 MPDZ ANTXR1 ADAR DMD PTPN11 HIC1 TXNDC15 SETD1A DYNC1I2 RAD21 CCNQ BRCC3 SEC24C PURA KIAA0586 TRIM8 TMEM138 GMNN FLNB SOX11 JMJD1C PRPS1 TLK2 ACTL6B ERCC5 ARL6 RAB39B GPAA1 PEX16 GDI1 NOVA2 TREX1 DNA2 NIPBL CUL7 PNKP MECP2 CRB1 VPS13B MAK PBX1 HESX1 IFT52 DHCR7 UBE4B TBCD PORCN RUSC2 STIL ITGA8 PLK4 CTNNB1 PIBF1 KLHL7 PIK3CD SCARF2 PIEZO2 TFAP2B SOX5 AASS TBC1D24 KIF7 AP4B1 LRP2 MYMK PHF8 TTC8 ELN RPE65 KMT2A XRCC4 POU1F1 ORC4 UPF3B PUF60 RBM10 ZNF462 KATNB1 SLC29A3 ALX4 TONSL PRPF6 MED13L CHRNA1 CSPP1 RDH12 PRPF4 TBC1D20 ZNF292 ARVCF CAPN15 KCNK9 PAM16 TAF6 RP2 FAM161A RREB1 FZD2 CSNK2A1 POMGNT1 RBMX CILK1 HS2ST1 GAD1 TENT5A LONP1 CNOT3 WDR73 DLX4 MAFB CHRNA7 KNSTRN RAI1 MYCN ZNHIT3 MVK FLII PDE6A C2CD3 HYLS1 NSD2 PIGV PTPRF TRMT10A GLB1 PRPF3 SCN1B DHDDS KPTN ATAD3A AGTR2 ACTG1 MBD5 IMPDH1 GAS1 DPF2 DOCK3 CNOT2 TP63 PARS2 CIT TCF20 NR2E3 RECQL4 DGCR8 PDE6B KIF14 RHO PEX11B ZNF148 IRX5 GNAO1 TBX2 DLL3 FGF20 ABCA5 BBS2 PLCB3 PIGF NFIB YWHAE RNASEH2B PPP1R15B RHOA ECE1 ALDH6A1 TOGARAM1 SOX9 MARS2 HK1 CHRND ASPH YY1 AFF3 ZNF408 SYNGAP1 ACTG2 RP1 MSL3 PAH CERKL AGBL5 SMARCD1 PTF1A FLCN PRMT7 MED25 LRP4 MITF SLC7A14 LEMD2 ABCA4 ADAMTSL2 KDELR2 CTBP1 AP2M1 COLEC11 RDH11 TTC37 SNIP1 SLX4 PCGF2 GPC6 SLC17A5 RPGRIP1 SIX2 FLNA CRLF1 MAN2B1 CNOT1 ALG3 NBN HSPA9 KCNAB2 PEX19 ASXL3 NRL TUBGCP2 MLXIPL TSPEAR DGCR6 TSPAN7 CDHR1 ZNF513 NSUN2 FRAS1 TRRAP MTX2 MPLKIP NR2F1 MESD COG6 RNF2 ADGRG6 PIGT MERTK CLRN1 EBF3 KDM3B OTX2 CASZ1 SNRPN PIK3R1 PRDM16 NRAS FLI1 MEIS2 EDNRB SOST RPS19 VPS35L SRD5A3 CDK19 TRIP13 SPATA5 HCFC1 SMG8 GABRD EPG5 RIC1 HP_ABNORMALITY_OF_THE_NASAL_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASAL_BONE PDE4D PPP1R12A PRKAR1A USH1G BRAF TONSL SLC25A24 CTNNB1 HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_BONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_BONE PDE4D PPP1R12A PRKAR1A USH1G TONSL SLC25A24 HP_ABNORMAL_RENAL_PELVIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_PELVIS_MORPHOLOGY RORA LMNB1 NF1 PEX6 GPC4 MKKS TFAP2A RTL1 STRA6 BCOR KRAS PIGL HLA-DPA1 FANCB RAB3GAP1 MYCN PEX1 SPINK5 SLC6A17 ROR2 OFD1 RAB23 KANSL1 HOXD13 LAMB3 RAB3GAP2 ITGA6 DDB1 MMP23B PEX26 MBTPS2 FOXF1 GEMIN4 PIGV MED25 PAX7 ERCC8 SOX9 DYNC2I1 BRAF GLI3 FAM20C CENPF ACTB SPEN PEX3 TBCK IFT80 GNB1 TP63 GREB1L ZEB2 CDKN1C PEX10 CHRNA3 TBC1D20 PEX12 ACTG1 APC2 FGFR3 DYNC2I2 POLE PIGY MASP1 NXN SHANK3 SEMA3E ARID1B DYNC2H1 EP300 MAP2K2 ATP6V1B2 CRTAP CHST14 CHD7 FLNA OTUD5 LRIG2 CDC42 PIGN ERBB3 MIA3 FGFR2 TBX15 GRIA3 MAP3K7 RERE PRKCZ PEX16 PEX5 ACTG2 CTNNB1 PORCN DVL1 KIAA0753 GPC3 PLD1 TOGARAM1 PPP3CA LAMC2 RBM10 KAT6B EN1 LUZP1 DSE ITGB4 YY1 ATP7A HLA-DPB1 WNT5A ATRX PIGW HPSE2 B3GLCT EBP HNRNPK LAMA3 PEX19 SRCAP SETBP1 SALL4 NRIP1 FGFR1 TASP1 ARNT2 DDX6 PGAP3 COG7 PLEC RECQL4 TBX1 LMOD1 GATA3 SIX1 PRTN3 ARL3 PEX11B USP9X ZIC3 COG1 MYL9 DYRK1A IARS1 WDR35 PGAP2 B4GAT1 UBR1 NSD1 KMT2D NSDHL CCBE1 RAB18 NCAPG2 TBX18 KCNAB2 SOS1 WFS1 CREBBP NSUN2 DHCR7 SETD2 UBE4B KCTD1 CCDC22 CD81 KAT6A BNC2 DLK1 WASHC5 SKI ATN1 EYA1 HYLS1 TRRAP MYOD1 FGF10 SOX17 TBC1D24 MYMK POLR3A ERCC6 APC HSPG2 PIGO ALG9 NBN LIG4 XDH SPART CASZ1 MAP2K1 PRDM16 PEX2 NAA10 SHH LTBP4 PEX13 TAPT1 FLI1 RNU4ATAC PTPN22 MEG3 CPT2 KDM6A SIX5 PEX14 POR PIEZO2 FGF13 BRF1 RAD51C NDUFAF3 NFIA CTLA4 G6PC3 GABRD PDPN CHRM3 HP_FETAL_PYELECTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FETAL_PYELECTASIS KANSL1 BNC2 FGF13 MYL9 TBCK HP_ABNORMALITY_OF_THE_FETAL_CARDIOVASCULAR_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_FETAL_CARDIOVASCULAR_SYSTEM PACS1 WT1 MKS1 PIGL PIGW GATA6 PIGO HSPG2 POR NRAS FANCF FANCB HOXD13 PGAP2 PIGY CCDC22 FOXF1 WASHC5 ZNF699 MCTP2 PIGV WNT3 UQCRFS1 TAPT1 SCARF2 DDX6 PGAP3 QRICH1 HP_NONCOMMUNICATING_HYDROCEPHALUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NONCOMMUNICATING_HYDROCEPHALUS TENT5A KDM4B KDELR2 MBTPS2 BICRA TSC2 TSC1 FOXJ1 HP_DILATATION_OF_THE_BLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DILATATION_OF_THE_BLADDER MYH11 NKX2-1 LMOD1 ACTG2 TP63 FOXF1 MYLK AQP2 AVPR2 MYL9 MYOCD HP_CONGENITAL_POSTERIOR_URETHRAL_VALVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_POSTERIOR_URETHRAL_VALVE SRCAP CHRM3 BNC2 IGF2 SETD2 APC2 NSD1 HP_ABNORMAL_CIRCULATING_LONG_CHAIN_FATTY_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_LONG_CHAIN_FATTY_ACID_CONCENTRATION ABCD1 PEX10 CPT2 PHYH PEX16 PEX26 PEX19 PEX5 PEX14 PEX7 PEX1 PEX2 PEX3 PEX6 PEX13 PEX12 PEX11B HP_ABNORMAL_CIRCULATING_FATTY_ACID_ANION_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_FATTY_ACID_ANION_CONCENTRATION LMBRD1 CPT2 MMP1 ACAD8 CTNS HADHA ACADM ACAD9 ACADS TANGO2 COL7A1 TRMU GATM NADK2 HADH NDUFAF6 EHHADH ACADVL SLC52A1 COX16 MMACHC SCO1 MT-TE SLC25A20 HADHB DLD SLC22A5 HMGCL SLC34A1 HP_ABNORMALITY_OF_GLYCOLIPID_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_GLYCOLIPID_METABOLISM MCOLN1 HEXA KHK GLA PSAP HEXB GM2A ARSA HP_ANEMIA_OF_INADEQUATE_PRODUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANEMIA_OF_INADEQUATE_PRODUCTION RPS28 IREB2 RPS15A ATRX HBB MYD88 ENG ADA2 SFXN4 RPL18 HBD MMADHC MVK KIT APC ATP6AP1 RPS29 FECH RPL35 FOXP3 CUBN RPL35A EFL1 GATA1 FTCD SLX4 SLC46A1 TRNT1 TEK CBLIF RAC2 DNAJC19 TSR2 HBA1 SBDS SLC19A2 ALAS2 RHCE ISCU ALDOA RPS27 RFWD3 ASXL1 ACVRL1 ERCC4 KARS1 RHAG IRX5 TF XRCC2 CDIN1 SLC25A21 CLPX HSPA9 FARSA RPS20 CAT RPL5 LARS2 ZNF699 UQCRFS1 WAS RPS7 SRD5A3 LMBRD1 LPIN2 RPS10 MMP1 RPS26 DNAJC21 RPS24 FANCC FASLG RPL26 HBA2 COL2A1 SLC25A10 UBE2T SF3B1 PUS1 TET2 GDF2 RPS14 TREX1 RAD51 LCAT TPI1 SRSF2 FN1 TKFC ABCD3 MTHFD1 UBA1 MTRR SLC12A3 TGFB1 MAD2L2 PSTPIP1 CASP10 AMN CDAN1 HLA-DQB1 UMPS RPL27 CLCNKB SLC35C1 SLC19A1 SAMD9L EIF2AK3 TMPRSS6 RIPK1 BRCA2 MMACHC FANCE COX10 DAXX SEC23B SLC29A3 PHGDH FAS COX4I2 FDX2 ELMO2 FANCI HPRT1 KCNQ1 WFS1 SMPD1 RPL11 FANCA SHPK FGF23 TCN2 TOR1A RPL15 RPS19 ABCB7 DNM1L KLF1 AGGF1 FANCL SRP54 CD55 PNPO OPA1 RHD PSMB8 PLA2G4A HK1 FANCB C2orf69 HBG1 WIPF1 HYOU1 RPL31 GALNT2 KCNE1 STK11 SMAD4 FANCF LARS1 RPS17 YARS2 HLA-DQA1 BPGM COL7A1 KCNN4 PIEZO1 FANCG PRDX1 SLC4A1 DHFR BRCA1 RMRP BRIP1 FANCD2 CP FANCM PALB2 MTR RAD51C HP_ABNORMAL_MYELOID_LEUKOCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MYELOID_LEUKOCYTE_MORPHOLOGY RNU4ATAC PPCS RAG1 ADA2 HLA-DPA1 IFNGR1 TNNI3 KRAS TERT APOE ABHD5 PLN CARD9 TNNT2 ZAP70 MEFV CBL CLPB CUBN NCF2 FAS TMPO FIP1L1 DCLRE1C EFL1 NHP2 GATA1 FKTN CYP26C1 CD247 RFXAP MMUT AGA ICOS IL7R CAPN3 PDGFRB COG4 ANKRD1 SBDS BACH2 BCOR STAT3 RPS27 GFI1 MAD2L2 CIITA CYBB PIK3CD SLC46A1 MYH7 SRP54 FTCD MYH6 IRAK4 RPS20 MMAB PARN NPC1 ABCC9 DKC1 PSEN1 ELANE DOCK8 DNMT3B TNNC1 WDR1 WAS TPM1 AK2 ERCC2 LAMA4 HLA-DRB1 HAVCR2 RPS29 SLC7A7 RPS10 GLB1 TRAF3 TINF2 BTK RPL26 PCCA ACTN2 TET2 SLC35A1 NPC2 ETV6 RFX5 CD79A LIPA CSF3R SRSF2 UBE2A ADA GTF2H5 PML RPS24 CEBPE DSP XIAP CASP10 RECQL4 LCP2 RPL27 FANCI BCR SLC35C1 SLC19A1 EIF2AK3 NEU1 SREBF1 IGLL1 CDC40 MPLKIP FBXL4 SAMD9L TLR3 IL1RN MYPN RAG2 SLC29A3 FANCG MECOM SEC61A1 PRF1 VPS13B ITCH RUNX1 FOXP3 SMPD1 ZBTB16 PACS2 DDX41 NSUN2 TCN2 RPL15 LYST USB1 FMO3 SAMD9 UNC93B1 SLC37A4 CD27 TARS1 SGCG OSTM1 DNAJC21 CYBA SGCD MDM4 MTRR PMM2 IGHM ABCD4 MYSM1 RAC2 BCL11B KIT NCF1 IKBKG GTF2E2 SDHA LRBA RPL31 HAX1 STAT5B FANCE CSRP3 IL36RN ABL1 TONSL TCAP EXTL3 ACTC1 PRKAR1A RPS17 CD40 CRYAB AMN MSN CTC1 RAF1 MYBPC3 LIG4 PRDX1 LDB3 RAB27A CTLA4 G6PC3 CXCR4 MYH9 BAG3 ASXL1 NRAS RPS28 RPS15A ATRX VPS45 MYD88 STK4 RPL18 SLC27A4 HELLS UNC13D RPL35 TERC RPL35A SPINK5 FANCA RFXANK OTULIN TPP2 PGM3 FANCC STXBP2 FCGR3B TXNRD2 NABP1 NLRP1 TSR2 TAF1A NEXN VCL TFR2 RARA RBM20 LAMTOR2 LBR CARD11 RNF113A PDGFRA PRDM16 CDCA7 CAP2 TBK1 CYBC1 STX11 PNP RPL5 PIK3R1 IFNG NOP10 TBL1XR1 ERCC3 LRRC8A CHD7 RPS7 GATAD1 MVK LMBRD1 TAFAZZIN CD3E RPS26 HLA-DPB1 AP3B1 FASLG NCF4 IKZF1 SF3B1 GPI NPM1 RPS14 GINS1 TDP2 TCIRG1 NUMA1 RBM8A CD40LG DSG2 IRF2BP2 PRTN3 ASAH1 MMAA ZNF341 GATA2 SMARCD2 SH2D1A HLA-B RASGRP1 SMARCAL1 MMACHC AP3D1 RMRP JAGN1 DES GSS TFRC CD79B ZBTB24 TICAM1 TRAC FDX2 NLRP3 FUT8 FHL2 RPL11 JAK1 BTNL2 SCN5A FANCD2 RPS19 HTRA2 DOLK IL6ST STAT1 IL2RG LMNA CXCR2 DMD BLNK HAND2 WIPF1 VPS33A RTEL1 FIBP HYOU1 WRAP53 ACP5 PSEN2 PCCB PPIL1 PTPN22 PRKCD TCF3 ANAPC1 CD3D TTN HP_B_LYMPHOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_B_LYMPHOCYTOPENIA PIK3CD IGHM MYSM1 RIPK1 RAG1 FCHO1 ADA TRNT1 DOCK8 KNSTRN RAG2 ICOS RAC2 GFI1 NFKB2 DCLRE1C NBN IKZF1 MCM10 LRBA TCF3 BTK SYK STAT1 NHEJ1 UNC119 IKZF3 WDR1 IVNS1ABP MYD88 ALG12 JAK3 IL2RA HP_ABNORMALITY_OF_LIPOPROTEIN_CHOLESTEROL_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LIPOPROTEIN_CHOLESTEROL_CONCENTRATION CYP7A1 LDLRAP1 LCAT ABCA1 SAR1B NGLY1 CREB3L3 ALMS1 APOC3 CETP LMNA MTTP TTPA SLC25A13 LPL LDLR CCT5 LIPC SMPD1 UBR1 FHL1 GALNT2 APOB PPP1R17 SYNE1 APOA2 ANGPTL3 ALB PANK2 PCSK9 ABCA2 GHR SYNE2 FDFT1 APOA1 TMEM199 ABCG5 SLC7A7 EPHX2 PPARG TMEM43 MSMO1 CCDC115 APOE APOA5 ABCG8 CEP19 LIPA PSMB8 GPIHBP1 APOC2 EMD ALG6 HP_HYPERLIPOPROTEINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERLIPOPROTEINEMIA CYP7A1 LDLRAP1 LCAT ABCA2 GHR SYNE2 LDLR LMNA TMEM199 APOC3 ABCG5 CETP SLC7A7 EPHX2 TMEM43 CCDC115 SMPD1 TTPA LPL APOE APOA5 SLC25A13 LIPC ABCG8 UBR1 FHL1 CEP19 APOB PPP1R17 SYNE1 LIPA APOA2 GPIHBP1 APOC2 EMD ALB PCSK9 HP_HYPOLIPOPROTEINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOLIPOPROTEINEMIA LCAT ABCA1 SAR1B NGLY1 SLC25A13 CREB3L3 FDFT1 MTTP APOA1 ALMS1 SLC7A7 LMNA PPARG MSMO1 SMPD1 APOE APOA5 CCT5 APOC3 GALNT2 CEP19 LIPA APOB PSMB8 ANGPTL3 ALG6 PANK2 HP_POLYGENIC_INHERITANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLYGENIC_INHERITANCE PPARG IRF6 NUP214 TAL1 ADRB3 ENPP1 FLT3 CFH BMP4 SERPINH1 ABCG8 BCR CST3 CARTPT UCP3 ADRB2 NLRP1 TP53 BAX AGRP A2ML1 SHANK3 SDC3 APOL1 GHRL NBN STOX1 NR0B2 POMC GNB1 TAL2 HP_DIGENIC_INHERITANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIGENIC_INHERITANCE GJB6 GJB3 SLCO1B3 ADH5 GDF3 GDF6 DYNC2H1 SLCO1B1 SMCHD1 NEK1 GJB2 HP_GONOSOMAL_INHERITANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GONOSOMAL_INHERITANCE SH3KBP1 FMR1 PCDH19 PIGA GJB2 ATP11C BRWD3 PDK3 RAB39B CCNQ PLP1 EBP EIF2S3 NHS CLCN5 FANCB AMMECR1 NDUFB11 IKBKG COL4A6 ACSL4 GPC4 ATP6AP1 GPR143 PRICKLE3 CFP TSPAN7 DMD IL2RG CLCN4 RPS6KA3 CRX PDE6G IDS ATP6AP2 PGK1 CASK TAF1 BCOR ZIC3 PRPS1 GLA NAA10 NSDHL F9 FGD1 CHM TRAPPC2 NEXMIF DAZ1 PRY2 IRS4 TBX22 MID1 SYN1 POF1B UBE2A OCRL COX7B OPN1LW GDI1 ROM1 MECP2 SLC16A2 ALAS2 CDKL5 MID2 DDX3X AIFM1 ARX FLNA MBTPS2 CRB1 MAGED2 FHL1 RPGR HSFY1 WDR45 NLGN4X DCX GATA1 OTUD5 ADGRG2 TSR2 SYP F8 CACNA1F EMD ZC4H2 CYBB OTC NR0B1 KDM5D HPRT1 NDUFA1 SSR4 AMER1 IGBP1 WAS PAK3 CSF2RA GPC3 MED12 AR PQBP1 RBM10 PHEX EDA ARR3 SLC6A8 HDAC8 TAFAZZIN OPN1MW DIAPH2 HUWE1 ATP7A PLS3 GPR101 ATRX CLIC2 HCCS MSL3 PDHA1 DAZ3 VMA21 IL1RAPL1 HS6ST2 POLA1 FGF16 GK GPR179 MAGT1 OGT LAMP2 BCORL1 MTM1 XK ANOS1 CD40LG UBQLN2 SOX3 FTSJ1 AVPR2 CDY1 CHRDL1 USP9X XIAP ABCD1 BPY2 AMELX L1CAM BMP15 SLC9A7 AIPL1 SH2D1A SLC9A6 RPS4Y2 HCFC1 MAOA USP9Y USP27X KIF4A AP1S2 DLG3 LRAT ZNF711 G6PD ARSL OPHN1 EFNB1 ARL6 VCY KDM6A FAM50A NLGN3 KDM5C PTCHD1 BCAP31 THOC2 UPF3B STAG2 GRIA3 SHOX FOXP3 CCDC22 CDY2A ATP2B3 NONO RLIM ZDHHC9 RBMY1A1 DNAAF6 ABCB7 SLC35A2 NYX TIMM8A PORCN SMPX SMC1A BTK BGN UBA1 NKAP FRMPD4 FRMD7 CFAP418 OFD1 TLR7 HNRNPH2 CLDN2 TEX11 SRY RPL10 GPRASP2 RS1 GJB1 TBC1D8B PHF8 PHKA1 MAMLD1 SHROOM4 HSD17B10 COL4A5 RBP3 PHF6 PHKA2 CFAP47 DAZ2 CLRN1 IGSF1 TMLHE DKC1 MSN CNGA1 ALG13 FGF13 HDAC6 KLHL15 AFF2 ARHGEF9 LAS1L NDP IGF2 POU3F4 DDX3Y TBL1Y RNF113A STEEP1 SMS LAGE3 GJB6 TBL1X PRY RBMX STS CNKSR2 RP2 CUL4B IQSEC2 HMGB3 HP_ABNORMALITY_OF_THE_EXTRINSIC_PATHWAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_EXTRINSIC_PATHWAY PMM2 PGM1 ALG6 ALG8 DPM1 DPAGT1 F7 GGCX AHCY SERPINC1 SRD5A3 DPM2 VKORC1 MPI MGAT2 HP_ABNORMALITY_OF_THE_INTRINSIC_PATHWAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_INTRINSIC_PATHWAY PMM2 NGLY1 F8 GGCX MPI MCFD2 DPM1 F12 F11 ALG6 ALG8 DPAGT1 AHCY VWF SRD5A3 ALG12 DPM2 SERPINC1 VKORC1 ATP6V1E1 F9 SOS1 ATP6V0A2 MAP2K1 BRAF PTPN11 LMAN1 MGAT2 LZTR1 PGM1 ATP6V1A HP_ABNORMALITY_OF_THE_COMMON_COAGULATION_PATHWAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_COMMON_COAGULATION_PATHWAY FGG SLC4A1 XIAP NGLY1 F13A1 SPTB ANO6 ANK1 STX11 LYST GGCX MPI MCFD2 NLRC4 GNA14 UNC13D MCM10 HAVCR2 TBL1XR1 PRF1 FGB STAT5B FGA AHCY F10 ALG12 FIP1L1 VKORC1 CFH PRKAR1A F5 SPTA1 EPB42 ZBTB16 STXBP2 MAP2K1 BRAF PLG HELLPAR NABP1 PTPN11 SLC7A7 LMAN1 SERPINC1 CFI F13B RARA MGAT2 BCOR NUMA1 NPM1 STAT3 PML IRF2BP2 SERPINE1 ALG6 CD46 HP_ABNORMAL_MORPHOLOGY_OF_THE_ABDOMINAL_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MORPHOLOGY_OF_THE_ABDOMINAL_MUSCULATURE A2ML1 MTOR XYLT1 PTPN11 SPECC1L GPC4 RTL1 GNPTAB COLEC10 NRAS RIT1 DIS3L2 FBN1 MCOLN1 H19 COLEC11 KCNQ1 KRAS BRAF SLC25A24 MRAS RMRP TBCK PORCN RAF1 LZTR1 CHRNG MEG3 GPC3 FOXF1 ATP7A KCNQ1OT1 ELMO2 SKI HNRNPA1 SOX6 CANT1 CBL IGF2 CDKN1C SHPK RRAS ACTG2 COL3A1 FLNB RASA2 SOS2 DLK1 B3GLCT PIGQ MASP1 MYH3 RRAS2 CHRM3 PPP2R3C EZH2 CD96 SOS1 MANBA CHST14 HP_ABNORMALITY_OF_THE_CEREBRAL_SUBCORTEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CEREBRAL_SUBCORTEX RNU4ATAC PSEN1 CCDC32 PIGA BUB1B ALX3 CCDC47 PDYN CACNA1A ADGRG1 ERCC8 EIF2S3 VPS51 GRIK2 KANSL1 TCTN3 RERE WDFY3 MBTPS2 CTNNA2 AMPD2 PHC1 CENPJ CEP41 KAT5 METTL5 IER3IP1 PYCR2 ANKRD11 UBE4A AIMP2 SPEN MT-TS2 PUS3 KRAS MAP1B SIX3 ZEB2 MT-ND1 PC SIN3A ASPM FAM111A SAMHD1 MRPS16 TREX1 POU1F1 MT-ND4 INPP5E KCNA1 FGF8 KCNMA1 SPG11 GABRB2 DPM3 ATL1 NTRK2 MT-ND2 RAC3 TRAK1 PROKR2 HUWE1 PIGN FIG4 DIS3L2 CDON USP7 GLI2 PRKCZ SUCLG1 CCDC174 TDGF1 TRAPPC14 RSPRY1 PDHX VPS41 PLP1 VAC14 HNRNPU RFWD3 ZSWIM6 RANBP2 DOCK7 MED12 AHCY EHMT1 MAPK8IP3 TACO1 ERCC2 CTNNB1 ZFR TMEM237 CUX1 B9D1 AP2M1 HNRNPK DPH1 B3GALNT2 RRM2B RNASEH2C SETBP1 SOX3 YWHAE ZIC1 EIF2AK2 PTCH1 LMNB1 B4GAT1 UBA5 JARID2 SLC13A5 SLC2A1 DMXL2 DNM1 ARID2 SNAP29 CYP11A1 TUBB2B AHI1 MBD5 TK2 XPR1 DONSON MAPRE2 ZMIZ1 DCHS1 C12orf57 PGAP1 FBXL4 FBXO7 WDR35 DMPK PRNP ATXN8OS SIN3B FKRP KIAA1109 PET100 SHOC2 GBA ARID1B NODAL COL4A1 PANK2 NDUFA12 TMEM106B KIFBP NDUFS3 SLC39A14 FTL B9D2 CRPPA CYFIP2 NUP62 COPB2 FGFR3 NDE1 DNM1L MED27 TAOK1 GMPPB CA2 WDR45 GRIN2A AARS1 NKX6-2 GOT2 SCN3A MKS1 OPA1 DHX16 PSAP CDK5RAP2 B4GALNT1 DACT1 ATN1 MLH1 PTDSS1 SPTBN4 LHX4 ATP6V1A TMEM216 ODC1 FOXH1 SHH HSPG2 DLL4 TBCD LARGE1 POLR1C TCF4 WWOX SMG9 KAT6B CC2D2A FKTN NAA10 DISP1 AIMP1 SATB2 D2HGDH ADAT3 SUFU NOTCH1 CLN8 PPP3CA AP4M1 TOE1 PLEKHG2 NCDN GBA2 TIMM50 PDE6D LAMA1 RXYLT1 EXOC8 NFIA SATB1 TGIF1 NMNAT1 CEP290 REPS1 GAS1 BUB3 EARS2 SLC25A24 RAB3GAP2 CLTC APC2 IBA57 ZIC2 LSS ALX1 TBCK RAC1 MID1 BMP4 HPDL FGFR1 ZC3H14 ISCA2 CEP104 MED23 RNF113A DLL1 ACY1 LAMA2 NOTCH3 CYB5R3 TRAPPC9 WDR62 SLC6A9 RELN KIF7 PPP1R12A HS2ST1 SLC1A2 KCTD7 PPP1R15B HCN1 METTL23 UBE3B PUS7 PRSS12 SASS6 ACTL6B MT-CO1 NADK2 TUBA8 SUZ12 MAG PRRX1 NT5C2 POLR3A SETD1B RLIM KDM4B SLC25A19 FOXP2 ATP13A2 TUBB2A B3GLCT CYB5A FGF13 KCNA2 PEX10 RSRC1 ALG3 ALDH7A1 PDE8B MAPT DDX6 PIGG FAM126A AARS2 COG7 PDGFB TREM2 MAN1B1 TMEM251 PRUNE1 KCNB1 KMT2E SNCAIP EBP CSPP1 COQ2 EDC3 POLG LETM1 DCC MFSD2A SMARCE1 PHGDH COL3A1 HESX1 DDHD2 DNAL4 CIC TRIP12 MOCS2 GRIA4 SLC35A2 CACNG2 CACNA1B SCO2 CPLANE1 SMARCA4 ARSA EXOC2 ACO2 SMC1A KATNIP OFD1 ERCC6 SIX6 TMEM67 NDUFAF5 DHDDS VWA3B DPYSL5 POLR3B OTX2 KIAA0586 ARX HACE1 KNL1 TBC1D23 SLC12A6 PDE10A DDX59 MBOAT7 SYNGAP1 GALNT2 FGF12 RALGAPA1 NAGA MT-ND6 STUB1 TSC2 PPIL1 BRAT1 ATRX MED12L DYNC2H1 CIT NUS1 NDUFB8 PRKDC AP3B2 PCNT SZT2 NPHP1 PPP2R3C KARS1 DYNC1H1 CCDC88A TBCE RFT1 NEMF GFER FAT4 ATXN3 SEPSECS EXOSC1 NF1 SURF1 PTPN23 ADAR MEF2C DDB1 C9orf72 BPTF SYNJ1 C2CD3 CLPB MED25 AP4S1 SARS1 RAB18 DARS1 MTRFR UFSP2 NDST1 CDH15 ALDH18A1 STXBP1 COX7B NUP188 CSNK2B ZMYND11 GPC4 TRAPPC12 PYCR1 ZNF423 GNAS GABRA2 OTUD5 CACNA1E DDX3X NFIX LHX3 IGBP1 SPATA5 ZFYVE26 UNC80 ADNP AHSG RNASET2 RPGRIP1L LIPT1 SLC19A3 SLC6A8 ATXN2 FOXA2 CEP120 HCCS SMARCC2 ZBTB18 SYNE1 CARS2 SALL1 BCORL1 CDH2 NRROS PSMD12 VPS13A NARS2 FGFR2 AGO2 TXNDC15 FRRS1L RARS1 SPECC1L SOX2 CWF19L1 PSAT1 UBTF MYL9 ERCC1 ACTG1 DYRK1A WASF1 BSCL2 TMTC3 POMT2 EOMES ASNS PIGH LINS1 CSF1R CAMK2B PNKP VPS13B DPAGT1 RNF13 HERC1 DHCR7 UBE4B MAP2K2 KIRREL3 RUSC2 GTPBP3 DAG1 RAB11A FRMPD4 PIBF1 CEP63 PIEZO2 TCF20 ARFGEF2 CREBBP DCX MTRR POMT1 KAT8 AUH GCDH LRP2 C2orf69 KIF1A CYP2U1 GRIN2B PLAA GTF2E2 GPKOW PIK3CA GRIN1 ZNF462 KATNB1 SDHA ALX4 GSX2 ACOX1 FOXRED1 TBC1D20 WAC KIAA0753 NCAPD3 POMGNT1 TM4SF20 TRAPPC4 COG2 CC2D1A TSEN34 CAMK2A MADD RORA LONP1 CNOT3 HTT MT-TS1 RBPJ FLVCR2 NTN1 C12orf4 NTNG1 FLII ASPA MTHFR LAMB1 TRMT10A AP5Z1 RAB3GAP1 POMK DYNC2I1 BCOR MT-ND3 SDHB SLC12A2 AP4E1 NDUFB11 DNAJC19 GABRG2 DYNC2I2 POLG2 GRN NDUFA2 SHMT2 TMCO1 GLDC RECQL4 MT-TH MTFMT IQSEC1 LMAN2L NHLRC2 STAG2 PROP1 GALC FRMD4A AMER1 VAMP2 ST3GAL3 SOX10 PCLO WT1 ALDH6A1 HK1 DCPS UFC1 NONO YY1 LNPK PAH TTC5 SMARCD1 FLCN POGZ EZR SLC44A1 HSD17B10 RB1 ABCD1 SOX4 TAF2 L1CAM AMT NAXD COASY PAK1 SNIP1 EXOSC8 AIFM1 AP1S2 CHAMP1 DPM2 PMS2 FMN2 THOC2 NDUFA9 MAN2B1 MICU1 HSPA9 COQ8A ENTPD1 MINPP1 DEGS1 TUBGCP2 TNIK ALG11 UBA1 ARHGAP31 NDUFA4 PIGC NR4A2 NDUFS1 GJB1 GLRX5 ATP8A2 LIG4 CENPE IDS EXOC7 PNPT1 SET FLI1 ALG12 MOGS PAFAH1B1 GNA11 OSTM1 MT-TV MT-CYB DPYD GFM1 MMUT CHMP2B GABRD SMO ATR PDHB VPS16 NSUN2 SLC9A6 RAB23 TAF13 SRPX2 WASHC4 SPTAN1 PPP2R5D CDK19 DHCR24 RHOBTB2 BRAF KDM5B CENPF MSTO1 QARS1 MRM2 CDK13 IFIH1 MDH2 TECPR2 CNKSR2 EMX2 TUBB3 TRPM3 PDGFRB LIPT2 VCP HMGCL SLC46A1 PAX6 SLC25A46 TCTN1 CTBP1 GPT2 ACTB CDKL5 OTUD6B PIGP NDUFA8 NANS ZNF699 NDUFC2 GPC3 MTOR SIK1 COG4 ZDHHC9 OSGEP TBP FA2H FDFT1 KIF15 SLC25A10 PITX1 TSEN2 RNASEH2B MT-TW CLP1 KCNT2 SELENOI COG5 CD96 UBE2A ARID1A NEUROD2 PPP1R21 DIAPH1 SCYL2 ACER3 BUB1 PIGB MT-ND5 ALG2 MACF1 CDC40 MPLKIP CYP27A1 CDK10 WDR81 EPB41L1 NSD1 DEAF1 LMX1B GLUL NDUFS2 SACS KIDINS220 SVBP TANC2 PPP2R1A CNTNAP1 MT-TK TARS1 HNMT NDUFA13 DPYS ATG7 VRK1 PSMB8 EEF1A2 GNAO1 IGF1R HIVEP2 LMBR1 ACADS POLR3GL TMEM165 ERMARD PEX16 DOCK3 MT-TF NARS1 GJC2 EXTL3 GLI3 CPT2 AHDC1 GRIN2D GBE1 MRPL12 VPS11 TSC1 EDEM3 SLC20A2 GAA CRADD SMARCB1 PDPN ECHS1 SUCLA2 KMT2C NDUFS4 HIBCH ARMC9 STAT2 PEX1 MT-ATP6 HYLS1 KMT2A GRM7 PIGQ ADH1C EMC1 RTTN KDM1A PPP2CA ERLIN2 NELFA IFT80 ADORA2A L2HGDH GCSH NDUFA6 FASTKD2 CELF2 CLIP1 CACNA1G FOXG1 ACP5 CEP152 ERCC3 FARSA VPS4A ZBTB20 TRAPPC6B EPG5 SON WDR45B GPSM2 SH3PXD2B CDC42 LUZP1 AGTPBP1 ACTL6A ARV1 PTEN TAF1 TET3 PDHA1 TGFB1 SLC25A22 TMEM107 VPS13D MT-TL1 SCN2A NID1 ALG8 MMACHC RNASEH2A DARS2 GABRA5 MT-CO2 VARS1 NDUFAF6 CEP135 WDR26 ACVR1 NDUFA10 FANCD2 TMEM260 NDUFV2 AKT3 ASXL1 KIF1C NDUFV1 IQSEC2 SLC25A15 MT-CO3 SCN8A SUGCT NALCN MED13 MAF YWHAG STAMBP MLC1 KCNQ2 VAX1 DNMT1 TMEM231 DLAT DOCK8 DOCK6 BRF1 JPH3 TSEN54 STRADA MCOLN1 ERCC4 GM2A NDUFAF2 RMND1 SPG7 CUL4B ANKLE2 RAD51 EML1 ZNHIT3 ARNT2 ITGB6 POU3F3 MMP23B RSPO2 FAR1 GPX4 ATP6AP2 CTNS MFF EFNB1 OCRL SUMF1 ARL13B MCPH1 SHANK3 EP300 NEDD4L CBY1 ARL3 SYT1 NKX2-1 CRBN CARS1 KIF2A CASK TUBB SNCA UBR7 KCNK4 SSR4 CYP7B1 WDR4 POMGNT2 FGFRL1 ADSL CPLX1 GATA3 PLPBP GLUD2 RAI1 EPRS1 PUF60 FH NDUFS8 TYMP DISC1 KIF14 GTF2H5 HIC1 IFT52 RNF168 DYNC1I2 GABRB1 TMEM70 GDF1 FANCI TRIM8 TMEM138 YIF1B LRRC32 PRPS1 TCTN2 SAMD9L NOVA2 BRSK2 OCA2 PRF1 HEPACAM ETHE1 GJA1 SEC31A COX15 SLC30A10 UBE3A SETD2 JAM2 PARS2 PORCN STIL KIF5C ASH1L NDUFS7 MDH1 AP4B1 CLN5 PIGU RPL10 SQSTM1 SLC45A1 RBM10 SLC2A3 GFM2 MRPS25 USP9X IRF2BPL BCAP31 TSEN15 MT-TQ PDP1 ACTA2 TRMT1 SPG21 RPS6KA3 TMX2 CDK8 FBXW11 SOX11 CILK1 NSD2 GAD1 MYT1L WDR73 EOGT FANCB GCH1 LRRK2 ISG15 KCNQ5 NBEA GLB1 POLR2A STXBP2 SCN1B NACC1 ATAD3A ADARB1 SNX14 POLR3K VANGL2 WARS2 CDK5 DPF2 NECAP1 TECR WNT3 GATAD2B HTRA1 LYRM7 PDSS2 CDK6 ZNF148 MORC2 CHMP1A GRIA3 STX11 ABAT TTI2 MRPS22 TRAPPC11 TOGARAM1 HRAS NDUFAF3 SMARCA2 COG6 CASR FAM149B1 NRAS MOCS1 FBXO31 GLYCTK SLC25A4 PRMT7 GTPBP2 OPHN1 SLC5A6 LEMD2 PALS1 TYROBP ARSI UPF3B TIMM8A FUZ UNC13D PCGF2 SLC1A4 CNP RPGRIP1 CNOT1 KCNAB2 ASXL3 PRKN ALKBH8 NEXMIF TARS2 HTRA2 SKI PLA2G6 TRRAP C19orf12 HSD17B4 FDXR NR2F1 CLCN4 UGP2 LRPPRC KCNT1 KDM3B CEP57 PIK3C2A CASZ1 PRDM16 TUBA1A NTNG2 VPS53 YARS1 BICD2 THOC6 TWNK TRIP13 HIKESHI DALRD3 TNRC6B PSMG2 TUSC3 SMG8 PIK3R2 CP LRP12 HP_ABNORMAL_CORPUS_STRIATUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CORPUS_STRIATUM_MORPHOLOGY NDUFAF5 RNASEH2C TUBB2B GCDH TYROBP POLR3A FOXP2 NUP62 ATP13A2 HTT COASY TREM2 IFIH1 ADAR NDUFB8 MT-ATP6 SCO2 ATXN3 TIMM8A SAMHD1 JPH3 SURF1 PDE10A AIFM1 BSCL2 VPS13A NDE1 NDUFS2 RNASEH2B RNASEH2A FTL PNPT1 PDE8B SLC2A3 TREX1 RANBP2 CP NDUFAF3 OPHN1 DCX HP_ABNORMAL_CIRCULATING_DICARBOXYLIC_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_DICARBOXYLIC_ACID_CONCENTRATION RHAG SLC4A1 SLC2A1 PAX8 GPX1 VPS33B IL12A IYD SPTB UROS VIPAS39 MMAA GYPC SLC19A1 EPB41 EIF2AK3 SLC5A5 PKLR HCFC1 TNPO3 MMACHC MMADHC TSHR ABCC2 SLC30A10 SLC17A5 SLC25A13 FBP1 WDR35 PFKM G6PD NR1H4 PRF1 LRP5 SLC10A1 PRKCSH LMBRD1 LIPT1 PKHD1 UGT1A1 SPTBN1 EPB42 IL12RB1 TG POMC SEC63 ANK1 HSD3B7 DNAJC19 SLC35A2 CASK PAFAH1B1 KLF1 SPTA1 TSHB L2HGDH UQCRC2 ADK SC5D POLG2 ETFA BAAT RFX6 RHCE SLCO1B1 OSTM1 DGUOK RHD SLCO1B3 ABCB11 HK1 TRMU ETFDH ABCD4 ATP8B1 MCEE ODC1 FARSB AKR1D1 GLRX5 CPOX MMEL1 SUGCT IDH2 MMAB SUCLG1 DUOX2 GATA1 DUOXA2 HBB TNFSF15 ZNF699 IGF1 ETFB LBR IRF5 PEX19 CPT2 FDFT1 MTTP KIF23 POU2AF1 KCNN4 PIEZO1 TPO FH PRDX1 PGK1 ACSF3 MMUT ABCD3 AMACR UBE2A SPIB SUCLA2 GCDH PIGA ALDOB ABCB4 GSR HP_ABNORMAL_CIRCULATING_MONOCARBOXYLIC_ACID_COCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_MONOCARBOXYLIC_ACID_COCENTRATION TALDO1 SBDS ATP8B1 SRP54 DNAJC21 NR1H4 ABCB11 ABCD3 PKHD1 BAAT TJP2 UNC45A ABCB4 SLC10A1 EFL1 DZIP1L HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_IONIZING_RADIATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_IONIZING_RADIATION TRAF7 PDGFB SMARCB1 BAP1 TERT RAD50 PIK3CA RNF168 NF2 SMO SMARCE1 SUFU AKT1 HP_INCREASED_BONE_MINERAL_DENSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_BONE_MINERAL_DENSITY VCP TRPS1 FAM111A HMGA2 GTF2I MC4R LEMD3 DLX3 TRAPPC2 GTF2IRD1 GJA1 LMNA WRN GBA TGFB1 CLIP2 RTL1 FLNA MPLKIP ABHD11 AGXT GNAS PLEKHM1 TNFRSF11A TNFSF11 CA2 ELN TBCE TCIRG1 EIF2AK3 CSF1R LRP5 HGSNAT BMP1 EIF4H DHCR24 ANKH LAT2 FAM20C STX1A MITF STX16 DMP1 SQSTM1 CTSK FERMT3 SLC39A14 NAGLU SOST TARS1 BUD23 PTH1R SNX10 ERCC8 RUNX2 RNF113A SETBP1 METTL27 OSTM1 TBL2 LPIN2 CLCN7 LIMK1 CLDN3 TBXAS1 MIR140 BAZ1B PTDSS1 NGLY1 NOTCH3 MAP3K7 SLC34A2 HSPG2 HHAT GTF2E2 SIK3 AMER1 ERCC3 ACP5 MEG3 ANO5 MTAP LRP4 SGSH GTF2IRD2 ERCC2 TONSL KL LBR NCF1 RFC2 FKBP6 CLDN4 DNAJC30 VPS37D PHEX EBP MLXIPL TNFRSF11B ERCC6 TMEM270 SLC26A2 SCARB2 MAP2K1 SLC29A3 BCL7B GTF2H5 DLK1 ENPP1 HP_OSTEOPETROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOPETROSIS CLCN7 ANKH PTDSS1 PLEKHM1 AMER1 TCIRG1 SNX10 TNFRSF11A MITF TNFSF11 CA2 OSTM1 GJA1 CSF1R DHCR24 LRP5 FERMT3 HP_HIGH_MYOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGH_MYOPIA ADAMTSL4 PRDM5 IRX5 ERBB3 LRP2 RPL10 P3H2 SMS TTC8 CYP4V2 MYOC LTBP2 COL2A1 LRPAP1 DAG1 ADAMTS10 RAB28 COL18A1 CRIPT CYP1B1 ARR3 KAT5 ATP6V1E1 EFL1 RIN2 FBN1 COL9A1 TBC1D24 ATP6V0A2 ASXL1 TGFBI CNGB3 ZNF469 HERC1 HS6ST2 FGFR3 NYX ELOVL4 SLITRK6 GZF1 ATP6V1A ZNF644 P4HA2 CPSF1 COL9A2 COL11A1 NMNAT1 HP_ABNORMAL_SYSTEMIC_ARTERIAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SYSTEMIC_ARTERIAL_MORPHOLOGY PPARG KMT2E COL1A1 NR2F2 CCDC32 GTF2I B3GALT6 NF1 NRAS LEMD3 SIX3 BUB1B COL3A1 DNAH1 PRKG1 ADA2 WRN GAA LMNA KMT2D PTPN22 FGFR1 MYCN RTL1 SELENOI AGXT HEXA KANSL1 ENG MMP23B MCTP2 WDFY3 ERCC8 IGFBP7 MYH7 ZIC2 TGFB2 SPTBN1 ERCC2 GATA1 ARF1 BANF1 SPEN P4HA2 CTSA MAP2K1 SMAD3 KRAS DARS1 ABCC6 ACTA2 ZEB2 ABCG5 IFIH1 FLNB SAMHD1 ELN GRIA4 COX7B HES7 ADK HGD SERPIND1 SC5D DNAJB11 GATA4 NXN NOTCH1 ACTL6B KCNMA1 TBL2 RPS27 RFWD3 HEY2 EP300 ERCC4 PDGFRB MEIS2 MYLK LDLRAP1 ERCC3 ALDH18A1 HLA-B ABCA1 HUWE1 PIGN FIG4 DIS3L2 MKS1 FGFR2 BPTF CARS1 RERE PRKCZ PTPN23 TMTC3 RPS20 TSC1 UBR7 SUCLG1 TDGF1 NPC1 SHH GUCY1A1 COL1A2 F12 TSC2 RET PPP1CB VAC14 CTCF ROR2 MEG3 HOXA1 PLD1 MT-ATP6 YY1AP1 GJA5 RPS29 NKX2-6 RPS10 LOX NCF1 ATP7A FLNA HPDL RPL26 HCCS TGFBR3 PUF60 GBA DNAJC30 APP HNRNPK BMPR2 BCORL1 NPC2 NEDD4L DISP1 CDH2 KDM4B SRCAP LIPA LCAT AEBP1 BCR PSMD12 TNXB COL5A2 FKBP14 TPM3 FGF8 CHD7 UBA1 ANTXR1 ADAR BCL7B AGO2 RPS24 PRPF3 TALDO1 GATA6 SMAD4 JARID2 CRELD1 BRCC3 SEC24C TBX1 TPM2 ERCC5 SPECC1L B3GAT3 GDF1 RPL27 BUB1 COMT TBX20 COL5A1 ZMIZ1 NEU1 JMJD1C SLC2A10 BRCA2 C12orf57 MYH11 WASF1 MPL TRAF7 MAX ANGPTL6 NADSYN1 TREX1 CYP1B1 EIF4H STAG2 RIN2 GHR PTCH1 GLI3 FMR1 SMPD1 NKX2-5 GJA1 JAG1 SVBP FANCA AFF4 MT-ND6 TANC2 RPL15 PPP2R1A DHCR7 FBLN5 NOD2 MED13L SETD2 MED27 TBX5 UBE4B MYH3 MT-CYB ESR1 STIL APOE TULP1 FBN1 BUD23 THSD1 ARFGEF2 CEP19 CNOT3 HIRA PIK3CD GLI2 TCF20 CLDN3 DYRK1B ADAMTSL1 CREBBP CYP7A1 RNF213 ARL6IP6 ABCD4 KAT8 FANCB SOS2 FOXH1 WT1 XYLT2 FBN2 HSPG2 SMAD6 JAK2 EHMT1 SMG9 RPL31 AMER1 TGFBR2 MMP21 TONSL DOCK3 ALG9 XYLT1 FANCF NT5E KDM6A WAC LDLR ARVCF SDHD SRY NEK9 ERMARD RREB1 TAB2 CEP57 LZTR1 TRMT1 BRCA1 TMEM270 SLC20A2 TRAPPC4 PSAP RPS17 CDK8 SATB1 FBXW11 PDPN MMP2 KIF1B MADD RAD51C TENT5A MYT1L RPS28 ENPP1 RPS15A GAS1 BUB3 STRA6 PRKAR1A GTF2IRD1 GGCX KNSTRN RPL18 TGIF1 SLC25A24 FOXE3 NTNG1 LRP5 VHL CHRNG BEST1 RPL35 ESS2 APOB FOXF1 RPL35A APOA2 HEXB GLB1 LIPC CSF2RB LMX1B IDS PCSK9 BCOR TGFB3 PGM3 MT-ND4L SLX4 ABL1 CHST3 SLC12A2 PTPN11 EPHX2 TSR2 ROBO4 APC2 DLL1 EFEMP2 METTL27 GANAB TGFBR1 COL4A1 SEMA3E APOA5 MLX DGCR8 NOTCH3 MFAP5 NDP ZNF148 NSMCE2 FARSB WDR26 XRCC2 HS2ST1 HDAC4 SLC34A2 GALC WDPCP UBE3B MYPN PUS7 SON CAT HLA-DRB1 RPL5 NODAL PCNT PLOD1 NEK1 NDUFB11 RNASEH2B ZMPSTE24 MT-ND1 LUZP1 TGDS RLIM TKT RPS26 ACTL6A FANCC RFC2 MAPK8IP3 ACVR2B BRAF CDON UBE2T ZNF687 PAH PTEN FZD4 CRKL RAD51 ALG3 HRAS RBM8A CYP27A1 DDX6 MAP1B MAD2L2 PALS1 KDELR2 RAI1 RNASEH2C ASAH1 CLIP2 SMARCAL1 MYOC KCNJ5 ABCG8 FANCE ABHD11 PKD1 MT-ND5 RNASEH2A DGCR2 NSD1 DYNC2LI1 TMEM231 KCNH1 FANCI HTRA1 LAT2 MBTPS2 STX1A KCNAB2 GJA8 SDHB TRIP12 TMEM260 RPS19 DNMT3A MLXIPL FANCL IL12B RPS7 FLT4 MED12 GATA5 DGCR6 MT-ND4 NKAP MAPK1 STAT1 LIMK1 SKI TRRAP MMP14 BAZ1B RPL11 SMAD2 DPYSL5 ALMS1 PKD2 ERCC6 BICC1 UFD1 MED13 RNU4ATAC THPO TMEM127 PNPLA2 CASZ1 HYOU1 PRDM16 UNC45B NTNG2 MAT2A PPP1R17 MT-CO3 FLI1 GTF2IRD2 GP1BB PDGFB POU3F4 FKBP6 PLXND1 CHD4 CLDN4 HTT VPS37D BRF1 TRIP13 FANCG NDE1 TNRC6B PLOD3 CSF2RA GM2A BRIP1 FANCD2 MT-ND2 GABRD DLK1 PIK3R2 FANCM PTH1R PALB2 BGN HP_ABNORMAL_MORPHOLOGY_OF_THE_MUSCULATURE_OF_THE_NECK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MORPHOLOGY_OF_THE_MUSCULATURE_OF_THE_NECK TBP B3GALT6 THAP1 CIZ1 PPP2R5D ATP13A2 MEOX1 GNAL SYNGAP1 COL6A1 COL12A1 FLI1 TGM6 COLEC11 VPS16 HPCA ALG9 TUBB4A GDF6 ATP1A3 PNKD COX20 COL6A2 PCGF2 KCTD17 CDK10 CACNA1A GDF3 SIGMAR1 ALS2 MYF5 GCH1 KCNC3 TOR1A CNP HK1 ZNF142 COL6A3 PRKRA DRD2 SPTBN1 KMT2B GDAP2 ANO3 NEK9 KIF1C TGFB2 TUBB3 SPG11 SCP2 MAPT SGCE TRPV4 DDC ACTA1 CP FUS PRRT2 NAA10 CEP85L HP_TEMPORAL_PATTERN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TEMPORAL_PATTERN MAPT GLUD2 ATXN8OS SNCA TBP SMC1A WASHC5 BCKDHB EIF4G1 NR4A2 BCKDHA OPA1 ADORA2A ADH1C MPZ ATL1 SPAST DBT PMP22 NIPA1 SNCAIP GBA ATXN2 HP_ABNORMAL_CIRCULATING_CARBOHYDRATE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_CARBOHYDRATE_CONCENTRATION KARS1 MT-TF ACAT2 AIFM1 NDUFS2 GALK1 NDUFAF8 BCS1L RPIA MT-ND3 PITRM1 NDUFAF3 MT-TP NDUFAF4 PDHA1 NDUFS6 GALM MT-TK COX6A2 PNPLA8 NDUFS7 LDHA SLC25A13 PDHX COX16 NDUFA1 NDUFS4 NDUFAF2 HNF1A COX10 NDUFV2 TWNK TIMMDC1 FOXRED1 NUBPL NDUFS3 NDUFS1 SLC25A26 TKT GALT MPC1 NDUFB11 SDHB LONP1 NDUFA6 NDUFA11 NDUFB10 PC GALE MECP2 NDUFV1 MT-TL1 MT-ND1 UQCRC2 MT-ND2 NDUFB9 NDUFAF5 MT-TI DCXR SORD ITPR3 IL6 PTPN22 NDUFS8 NDUFAF1 NDUFB3 TMEM126B POLG LIPT2 HP_ABNORMAL_GLUCOSE_HOMEOSTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GLUCOSE_HOMEOSTASIS PPARG NEUROG3 DIS3L2 MAFA INS PCARE HERC2 EIF2S3 UQCRB MT-ND6 HADHA MT-CO2 TRMT10A CPA1 MT-TV FOS NDP HNF1A MT-TK KCNJ11 TP53 OFD1 DOLK MRPS28 LIPE GLI2 PPP2R5D ABCC8 IER3IP1 AGPAT2 MT-TS2 GHR PC AIP IFIH1 SAMHD1 POLG2 POU1F1 ASXL2 LMNA BCS1L STAT3 KIAA1549 IDH3A SAG HMGCL SLC34A1 PAX6 DBH PHKG2 PROKR2 PSTPIP1 MCCC2 GLRX5 ZIC2 ACADS CDON PLAG1 NDUFAF3 IMPG2 FBP1 TOPORS PARN GUCA1B STAT6 SUCLG1 PDX1 NDN NEUROD1 SHH HMGCS2 HESX1 IFT88 STAR PROK2 MTOR BRCA1 GLIS3 NCF1 CYB561 MRAP HYMAI HNF4A INSR SPATA7 ACAD9 PCCA MT-TE LHX4 AKT2 CDKN1B MT-ND1 RRM2B MT-TW SOX3 AEBP1 APOA5 OTC MT-TC SNRPN GCK NDUFS8 BCL7B ZFP57 GREB1L CNOT1 GCDH ATM ROM1 CACNA1C QRSL1 GYS2 PEX10 SLC25A20 CYP11A1 NR3C1 FLT1 ARL3 MC4R FAH DMPK MT-TF NSD1 YY1 SPINK1 USH2A ELN MAGEL2 PDE6G SERAC1 TANGO2 EIF4H HRAS CEL MKKS MPC1 ITCH HMGA2 PCK1 TULP1 GHSR WFS1 CFTR LIG4 AFF4 FUZ FGFR1 MED13L DNM1L CNGA1 FSCN2 APOE BUD23 DHX38 MTX2 PDE8B HADH VANGL1 PNPO DGUOK OPA1 CISD2 SNORD116-1 PSMB8 MT-TS1 CLDN3 PMM2 IGF1R AR H19 KIZ GATB RLBP1 HBB NDUFS4 PWRN1 TCF7L2 DISP1 SMAD4 ETFB PHKA2 MKRN3 DCAF17 PWAR1 NDUFS3 CPT2 CFAP418 TUB PRKAR1A SLC2A2 DLD PET100 HMGA1 RTL1 RBP3 G6PC1 CDH23 TTC7A TMEM270 IL6 IL2RA CASR UBR1 SIM1 SMPD4 GPC4 CA4 ARL2BP PRSS1 SLC37A4 SLC13A5 KCNJ18 MEN1 PRSS2 AGL KCNQ1OT1 NDUFS1 PTF1A EYS FCGR3B LRPPRC GPR161 PRCD FOXC2 WDR11 SBDS SLC19A2 NDUFA6 TGIF1 RPGR SCO1 METTL27 SIX3 BLM SLC16A1 SLC5A1 BRAF NOTCH3 GJB3 CAV1 FARSB PPP1R15B EDA POMC ZBTB20 TFAM CAT MT-CO1 GPC3 PYGL PAPPA2 RP9 XRCC4 OCA2 DNAJC21 RFC2 AIRE SCAPER IGF2 USP8 NDUFV1 CTRC GALT FOXP1 HSD11B1 FBN1 GLUD1 PDE4D MTNR1B ALDH7A1 NDUFAF1 HADHB SLC30A8 ALDOB PROP1 COG7 PLIN1 RNASEH2C CLCNKB MT-TL1 SH2B1 GATA6 CLIP2 ZMPSTE24 MT-ATP6 COG8 ABHD11 POGZ LRAT SCN4A MRPS7 MMACHC COX10 RNASEH2A KDM6A IFT172 FOXRED1 POLD1 NNT CAMKMT GJA1 HLA-DRB1 STX1A BMP2 PRPF8 CORIN HGSNAT GH1 SAMD9 IFT140 ABCB4 AHI1 ESR1 ACADSB GPD2 WARS2 NBAS BEST1 PNPLA2 MMP14 KLF11 NDUFAF8 MT-CO3 OTX2 ALMS1 APPL1 MT-ND3 PLAGL1 NDUFS6 SNRNP200 NEK2 AHR IGF1 WRAP53 PTCH1 BCKDHA FGF8 PCCB GTF2IRD2 STUB1 RP1L1 FMR1 ARMC5 RNF125 HNF1B KCNE3 DNAJC3 VPS37D PCK2 PCSK1 CTDP1 PRKACA ACSF3 EDA2R KDSR MCCC1 PROM1 GTF2I GALK1 ARNT2 LRP6 WRN VANGL2 ARL6 NDUFAF6 BLK YIPF5 TERT IGF2BP2 GPR101 MOG CLPB UCP2 ROBO1 IDH3B CAVIN1 HFE NHP2 CTNS SGPL1 DLK1 CDKN1C MFN2 MPV17 SLC52A1 RFX6 TBL2 CPT1A NR1H4 PRKAG2 PLCD1 RGR GABRA3 PRPF31 CRX BCKDHB MIA3 CARS1 PRPH2 BBS1 LHX3 ACADVL DKC1 COX16 DMXL2 MADD FOXH1 RET ZFYVE26 PAX4 PALLD SLC22A5 MLYCD PLPBP REEP6 TINF2 ACADM FOXA2 CNGB1 NODAL ARHGEF18 NFKB2 DNAJC30 SEMA4A PTPN1 NDUFB9 ADAR MC2R POC1A HLA-DQB1 GATA3 CDKN2A BRCA2 CA5A EIF2AK3 LMNB2 NSMCE2 IRS2 TFG NDUFAF4 GJB4 NAB2 IARS1 BSCL2 STAT1 NDUFAF2 IGFALS NDUFV2 TTPA SLC29A3 TREX1 ATP7A CRB1 MAK FOXP3 NKX2-5 CTNNB1 SHPK SOX2 HERC1 SETD2 BBS2 TBX19 MT-ND2 NDUFAF5 KCTD1 STIL SRP54 ITGA8 CEP19 KLHL7 CPE CACNA1S ETFDH PIK3R1 NDUFS2 AUH MICOS13 KCNQ1 MPI TTC8 EHHADH RPE65 RETN LRBA NDUFA1 GFM2 MTHFR GATC NFS1 LEMD3 MEG3 PRPF6 NUBPL RDH12 PRPF4 MT-TQ SLC40A1 TDGF1 CTC1 SARS2 RP2 PPP1R3A DLL1 FAM161A IL18BP KRAS POMGNT1 MMP2 PALB2 LEPR SUFU GDF1 GTF2IRD1 ATP5F1D GLI3 NDUFS7 MTO1 PDE6A ELMO2 SLC3A1 TERC LEP PRPF3 DHDDS RIMS2 POLA1 CCDC28B GPR35 DNAJC19 RAC1 APC2 UQCRC2 IMPDH1 ETFA LMF1 PTPN22 NR2E3 COL2A1 MT-TH PDE6B RHO TCF4 FGF20 MT-ND5 LIPC PCNT NOP10 ENPP1 RNASEH2B WT1 ADCY3 ADA2 CYP21A2 TKT PEX6 FXN ZNF408 SEMA4D NDUFB10 RP1 GATM MAPK8IP1 EFL1 NPM1 CERKL PTEN HSD3B2 GK AGBL5 SLC25A4 MRPS2 SLC12A3 MT-ND4 GNAS GAS1 SLC7A14 LEMD2 ABCA4 HSD17B10 ACAD8 AMACR PAK1 POLG GCGR CNBP RABL3 FUT8 TXNRD2 LAT2 NDUFB11 NDUFA11 PREPL NRL HJV STOX1 MLXIPL PGM1 CYP19A1 SLC1A1 CDHR1 TWNK ZNF513 LIMK1 CP PEX1 PCBD1 BAZ1B ODC1 PDE11A POLR3A MERTK ALAS2 IRS1 PPM1B CLRN1 RTEL1 MST1 LHX1 PTRH2 BBS9 TIMMDC1 USB1 HAMP YARS1 ALG12 MT-CYB HLA-DQA1 FKBP6 CLDN4 NPAP1 UQCC3 PNPLA6 IARS2 ITPR3 CIDEC ACAT1 NDUFB3 TMEM126B DBT SNORD115-1 HP_ABNORMAL_BLOOD_GLUCOSE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_GLUCOSE_CONCENTRATION NDUFS4 MCCC1 DMXL2 ABCC8 GPC4 GALK1 SIX3 ARMC5 SLC16A1 LMNA EIF2S3 UQCRB SLC37A4 FGFR1 SLC13A5 NDUFAF6 NFKB2 ATP5F1D HADHA GLI3 INS KCNJ18 NDUFS7 STIL MEN1 ZFP57 SOX3 MTO1 HNF1A HYMAI KCNJ11 GLI2 AGL GCK SLC3A1 INSR CLPB DOLK PNPO MRPS28 TRMT10A UCP2 KCNQ1OT1 PPP2R5D ROBO1 ZIC2 HFE NDUFS1 LHX4 SGPL1 LRPPRC GHR RIMS2 POMC CDKN1C PC GPR161 DNAJC19 HNF4A APC2 UQCRC2 WDR11 POU1F1 HADHB WARS2 MPV17 GATA6 SLC52A1 NDUFA6 ETFA ASXL2 RFX6 SCO1 PTPN22 BCS1L CPT1A NR1H4 PROKR2 GJA1 PRKAG2 DLD HMGCL SLC34A1 GABRA3 FARSB DBH PHKG2 MCCC2 PROP1 BCKDHB PPP1R15B ACADS BLK PLAG1 NDUFAF3 FBP1 FGF20 TFAM STAT6 SUCLG1 PDX1 SHH HMGCS2 LHX3 ACADVL PAX4 COX16 MADD HESX1 MC2R RET STAR GPC3 PYGL MTOR SLC22A5 FOXRED1 CYP21A2 MLYCD AKT2 ZMPSTE24 PLPBP CACNA1S ACAD9 CYB561 ALDOB MRAP ACADM FOXA2 PCCA NDUFB10 HADH IGF2 GATM NDUFV1 MT-ND1 PTEN GALT DISP1 HSD3B2 GK NDUFB9 OTC GLUD1 PTF1A MRPS2 FGF8 NDUFS8 ALDH7A1 NDUFAF1 GREB1L NNT GCDH COG7 CACNA1C QRSL1 HSD17B10 GYS2 ACAD8 SLC25A20 CYP11A1 SLC2A2 CA5A NR3C1 NDUFAF4 PAK1 COG8 NAB2 POGZ FAH SCN4A MRPS7 PHKA2 MMACHC NDUFAF2 COX10 CPT2 YY1 NDUFV2 NSD1 KDM6A ATP7A SERAC1 TANGO2 FUT8 CAMKMT TXNRD2 HRAS CEL MPC1 HMGA2 NDUFB11 PCK1 GHSR NEUROD1 NDUFA11 PREPL SHPK GH1 PCCB AFF4 HERC1 SAMD9 SETD2 TBX19 MT-ND2 NDUFAF5 ACADSB PGM1 STAT3 SLC1A1 ITGA8 NBAS DGUOK ETFDH ODC1 NDUFS2 KLF11 AUH NDUFAF8 MICOS13 APPL1 MT-ND3 H19 PLAGL1 KCNQ1 GATB NDUFS6 PPM1B EHHADH OTX2 PIK3R1 NDUFA1 BBS9 IGF1 ETFB TIMMDC1 BCKDHA GFM2 YARS1 GATC NFS1 ALG12 NUBPL NDUFS3 RNF125 KCNE3 UQCC3 PCK2 PPARG PET100 PCSK1 IARS2 CTDP1 CDON MT-CYB ACSF3 G6PC1 ITPR3 IL6 ACAT1 NDUFB3 TMEM126B DBT HP_ABNORMALITY_OF_CIRCULATING_ENZYME_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CIRCULATING_ENZYME_LEVEL LARGE1 COQ2 MPV17 GTF2I PPCS CFL2 COL12A1 GNE GAA TNNI3 CHCHD10 PDK3 DPM1 DOK7 NEFL ABHD5 SVIL PLN CAPN3 TNNT2 LMNA TK2 TTN LIPE TMPO VCP DAG1 FKTN MSTO1 HINT1 SGCG AGL DMD TRPV4 SCN4A ANKRD1 COG8 POLG2 ENO3 CAV3 MYH7 MT-TE CRPPA POLG ISCU TBL2 DYSF DPM3 HNRNPA2B1 GABRA3 OTUD5 PHKG2 EMD SGCD MYH6 PYROXD1 HSPG2 SGCB GMPPB ERGIC1 KBTBD13 ABCC9 ACADVL PSEN1 COX16 MIEF2 TWNK TNNC1 CACNA1S POMGNT1 AHCY UQCRFS1 POMT1 TPM1 MYOT FKRP POMGNT2 ANO5 DPM2 LAMA4 PLEKHG5 TFG NCF1 ACADM ACAD9 ACTN2 DNAJC30 COL9A3 RRM2B BVES VPS13A NARS2 FKBP14 FHL1 COL6A3 BCL7B KLHL41 MTMR14 PLA2G6 B4GAT1 ISCA1 DSP QRSL1 NEB SLC25A20 SIL1 SLC25A42 AIFM1 PNPLA2 MYH14 DNA2 OCRL COX20 TMTC3 LDHA PHKA2 POMT2 MYPN ELN POMK TANGO2 EIF4H COL4A1 B3GALNT2 LPIN1 INPP5K PLEC ACTA1 COL6A2 USB1 HADH CCDC115 TPM2 TBCD PYGM BUD23 TSFM RYR1 MT-TL1 DHX16 CLDN3 TCAP COL6A1 HNRNPA1 DPAGT1 SYNE2 SLC16A1 MATR3 PHKA1 GATB CRYAB LAMA2 SDHA PEX6 TMEM165 CPT1A CSRP3 GATC CPT2 NFS1 FLNC QRICH1 ACTC1 PIK3R5 DMGDH BAG3 TRAPPC2L TRMU ADSS1 RAF1 AR FAM111B PET100 MYBPC3 LIMS2 LDB3 TMEM270 RXYLT1 STIM1 SUCLA2 SMCHD1 SQSTM1 TRAPPC11 MT-TN RNASEH1 GTF2IRD1 SYNJ1 ATP5F1D MVK KCNJ18 C1QBP GIPC1 DNMT3B DNAJB6 AP5Z1 TIMM22 HADHA POPDC3 TXNRD2 HNRNPDL GOSR2 TMEM43 TAF1A NEXN VCL TRIP4 RBM20 LAMA1 METTL27 MYF6 PIEZO2 PRDM16 MGME1 LMOD3 PGAM2 RBCK1 CHKB TOR1AIP1 CAP2 FRG1 TIA1 FLAD1 C19orf12 MYMK KLHL9 MPZ GATAD1 SETX POGLUT1 COG6 RFC2 AGXT DNM2 VMA21 ITGB4 LAMP2 SLC25A4 XK ITGA7 DSG2 ALG2 HADHB MT-TL2 COG7 ALG14 KCNA1 PITRM1 CLIP2 CNBP BIN1 ABHD11 DES SYNE1 ORAI1 FDX2 TAFAZZIN LAT2 MICU1 STX1A FHL2 KY PABPN1 SCN5A TRIM32 LTBP4 AASS NOTCH2NLC CAVIN1 SQOR PGM1 DOLK B4GALT1 TPM3 NEFH LIMK1 NSUN2 UBA1 PIGY BAZ1B COA7 HAND2 SUGCT CASQ1 GFPT1 PSEN2 MT-TS1 GTF2IRD2 ALDOA SGCA DUX4 FKBP6 CLDN4 KCNE3 VPS37D MLXIPL DCXR DGUOK LRP12 HP_APLASIA_HYPOPLASIA_OF_THE_VAGINA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_VAGINA GATA3 WNT4 GATA4 IRF6 CYB5A SOX9 GLI3 WT1 PAX3 MAP3K1 SRY NR5A1 NR0B1 VAMP7 DMRT3 CYP17A1 PPP2R1A ZFPM2 B3GLCT WWOX DHX37 CYP11B1 HP_ABNORMAL_FALLOPIAN_TUBE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FALLOPIAN_TUBE_MORPHOLOGY RAD51 DHH WNT4 RAD51D PALB2 RAD51C BRCA1 TP53 PLG NDUFB11 HCCS HYLS1 CHEK2 NBN COX7B BARD1 DCAF17 PTEN BRCA2 WT1 WNT3 FANCB MRE11 AR BRIP1 KIF7 RAD50 HP_ABNORMALITY_OF_BLOOD_CIRCULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_BLOOD_CIRCULATION SF3B1 SDHD ENG COL3A1 HLA-DPA1 PDCD10 F7 SMAD4 EIF2AK4 CDKN2B VHL APC SDHC CYP11B2 PKHD1 CCR1 CBL F13A1 STN1 ERCC8 GFI1B AVPR2 MYH6 FIP1L1 TGFB2 F11 SERPINF2 AQP2 HPS1 PIK3CA TGFBR2 FAS CYP26C1 SMAD3 PMS2 SDHA ABCC6 ZEB2 BMPR1A SDHB LMAN1 SEC63 MLH3 SBDS CFHR3 TREX1 TBX20 ITGB3 MSH2 BCOR APP ACVRL1 COPA HEY2 MYLK PDGFB F8 BAP1 SEMA4A TSC1 ADA2 TSC2 DOCK8 RET FZD4 CTCF CCM2 RANBP2 STAT4 CYP7B1 WAS LMNA CFH CACNA1D MAX SLC7A7 ACAD9 PCCA KIF23 TGFBR3 TET2 DNMT3A SLC35A1 KIT ERAP1 NDP ATP6V1A TNXB GBA ITGA2 PTEN PML TLL1 SERPINE1 RNF168 MDH2 BRCC3 CASP10 SEC24C GP1BA CYP11A1 COMT IL23R F5 SREBF1 JMJD1C MYH11 FAH CDKN1B ANGPTL6 CYSLTR2 GCK COL4A2 ATP7A VWF TTC7A RUNX1 ZBTB16 GNAQ STK11 DPAGT1 FN1 ACTA2 MED13L GATA6 PDX1 KIF1B FGB F9 THSD1 CST3 PLOD1 CISD2 KANSL1 HIRA SMO PMM2 TBX1 GCDH GP1BB IL10 XYLT2 RS1 DLL4 MPI DZIP1L IKBKG STAT5B PUF60 FAN1 LRP5 F10 GP9 PRKAR1A ATP6V1E1 XYLT1 EPAS1 CPT2 NOTCH1 FH HPGD CDKN2C USP18 ARVCF MYC FGG CDKN1A CITED2 SLC25A11 PET100 CFI ABCC8 KCNJ5 SDHAF2 RREB1 CTLA4 CTC1 NF1 ASXL1 RB1 ITGA2B TENT5A GDF1 ZNF408 ENPP1 MYD88 MLH1 UBAC2 RBPJ EOGT SLCO2A1 CLCN2 STAT2 FBN1 STX3 FOXE3 KRAS SLC25A13 IVD MEFV BEST1 KLRC4 FOXF1 CYP11B1 PRKCSH C4A SH2B3 AKT1 TGFB3 ATOH7 SRSF2 HELLPAR TMEM127 NABP1 TEK MCFD2 CD109 RARA PRF1 PLAU RASA1 JAK2 COL4A1 TLR4 NOTCH3 EFEMP1 GREM1 KRIT1 PDGFRA MPL NLRC4 CTNNB1 ATRX CBS LOX GNA11 RPS20 APOE IFNG FGA TBL1XR1 DLST ZMPSTE24 TNFRSF1A ELN IL12A-AS1 TRAF7 LMBRD1 GATA4 HLA-DPB1 DNM2 MFAP5 IKZF1 GDF2 SUFU ACTC1 NUMA1 MYO5B FCGR2C IRF2BP2 SP110 PLVAP ALDOB IL10RA KDELR2 PRTN3 CFHR1 CAPN5 HLA-B GGCX RHBDF2 PROC HMCN1 SMARCB1 MMACHC DAXX MSH6 MBTPS2 PROS1 F2 SAMD9 NF2 KCNJ11 SMARCE1 NKX2-5 AGGF1 TGFBR1 STAT3 WFS1 EPCAM GATA2 NPM1 ARHGAP31 SMAD2 TERT CTNS PRKG1 ERCC6 IL12A WIPF1 UFD1 PMS1 INS MAT2A LBR PCCB SPARC PTPN22 TSPAN12 THOC6 MEN1 TERC DOCK6 F13B MVK NDE1 ATP6V0A2 MMUT COLGALT1 FSHR ALPL HSD3B7 CD46 HP_ABNORMAL_BLOOD_TRANSITION_ELEMENT_CATION_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_TRANSITION_ELEMENT_CATION_CONCENTRATION HFE SKIV2L MMP1 HJV BMP2 HBB BCS1L ATP6V0A2 SLC30A10 KIF23 SLC40A1 TMPRSS6 SCO2 ATP7B COL7A1 SLC7A7 TTC37 ALAS2 HAMP SPATA5 IARS1 TFR2 FOXP1 ATP6AP1 TRNT1 ABCD3 CARD9 SLC30A2 COG2 PKLR STEAP3 CP PIGA SLC39A8 AP1B1 AP1S1 HP_ABNORMALITY_OF_IRON_HOMEOSTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_IRON_HOMEOSTASIS HFE SKIV2L HJV BMP2 HBB BCS1L SLC30A10 KIF23 SLC40A1 COL7A1 TTC37 ALAS2 HAMP TFR2 FOXP1 TRNT1 ABCD3 CARD9 PKLR STEAP3 CP PIGA HP_ABNORMALITY_OF_FLUID_REGULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FLUID_REGULATION A2ML1 COL1A1 MKKS KIAA0586 NEUROG3 PIGA LEMD3 BUB1B FAT4 FECH VPS51 BMPER ANGPT1 SMAD4 CDKN2B PDE6G LAMB3 ZEB1 MRPS28 CHEK2 AVPR2 ABCC8 MYH6 EGFR ADAMTS3 AQP2 GATA1 FAS CBL CTSA MAP2K1 TGFBI FLNB BMPR1A SOS2 TGM1 ENG MEFV TSHB MRPS16 POLG2 HGD LMOD3 TREX1 POU1F1 CARS2 CSGALNACT1 SOS1 RPS27 DYNC2H1 MAP2K2 SLC34A1 PTPRO AKT1 FIG4 COL11A1 NRAS GATA2 ASL DIS3L2 MAGI2 MMAB PEX5 ATP6V0A4 NRL FZD4 RP1L1 VAC14 IL6 PLD1 RANBP2 AHCY AK2 LAMC2 NOD2 RPS29 PTPN14 RPS10 OSGEP NCF1 TRAF3 HYMAI TBX20 ACAD9 TGFB1 PCCA TRIP11 GUSB DSP UROD HNRNPK CD79A RRAS2 RRM2B ERAP1 FLT4 INF2 CLCNKA MYBPC3 GBA HLA-DRB1 BCL7B ZFP57 MFRP RPS24 SLC5A1 KLHL41 QRSL1 RECQL4 ARL3 CYP11A1 IYD BUB1 GYPC EPB41 IL23R NEU1 DCHS1 IGLL1 ALB NPHS1 WDR35 SCNN1A CDKN1B TLR3 IL1RN KIAA1109 ELN MAGEL2 GCK TNFRSF1A MYO5B IGSF3 EIF4H ABCA12 NPHS2 PTPN22 NEK1 RRAS CFTR PSMB9 UNC93B1 PDX1 NOS3 BRD4 BUD23 KAT6A GJC2 LPIN2 PKLR MIF CLDN3 PTPN2 PMM2 NUP205 ODC1 COL1A2 IL10 LYST BAP1 SLC26A2 KIF7 GATB CCND1 LAMA2 CAMTA1 HAVCR2 KRT2 PLCE1 CTLA4 LRP5 NDN PDSS2 CDKN2C PHGDH UNC45A CDKN1A NR2E3 KLHL40 CFI TPO RHO GNAQ NEK9 POMP APOE TMEM270 SLC5A2 UBR1 NDUFS4 WT1 RPS28 NUP133 ZNF408 KIF11 BUB3 MYD88 RIT1 UBAC2 KCNJ1 TRAPPC2 SLCO2A1 RPL18 PRSS1 BCL6 VEGFC STX3 ABCC9 DOK7 RAF1 OVOL2 ALOXE3 PRF1 SOX18 KNG1 C4A IBA57 STAT4 GLA ACTB HADHA LHX4 PIK3CA SERPING1 TPRKB IFT80 SLC40A1 FOXC2 SNRPN MGAT2 NUP85 COL2A1 PTH1R PIEZO1 METTL27 FLNC MAPK1 TLR4 FARSB TSC1 RAG1 SLC34A2 TP53 NAGA PTEN CPS1 ARHGEF18 DUOX2 HESX1 RAG2 CDC42 ATP7B KRT13 RPS26 OCA2 RFC2 FGG ALG1 RB1 TRIM37 MYLK CITED2 EBP ATP1A3 PSMB4 SPTB ITK ALG9 GBE1 HBA2 ACTC1 ALG12 SCARB2 ATP1A2 RBM8A CHRNG FGA INPPL1 RLBP1 HADHB CD247 FRG1 ABCA3 KIF20A VPS33B ENPP1 MYO1E PRTN3 IFT172 MMAA SLC35C1 RASGRP1 CLIP2 COQ2 ABHD11 MCM10 BSND ALG8 MMACHC SPINK1 TICAM1 APOL1 NSD1 CTRC CASP10 HLA-A SLC4A11 ALOX12B NLRP3 CCBE1 CYP11B2 NUP107 F8 STX1A CRB2 BMP2 DDR2 CA12 BTNL2 HLA-B TMEM260 RPS19 SFTPB KCNJ11 COL5A1 TEK ACTA1 STAT3 TRPC6 SPP1 EPHB4 LACC1 EPCAM RPL11 MCEE NDUFB10 TNNI3 CTNS RIN2 GNPTAB CTNNB1 PLAGL1 IL12A PAX2 FRMD4A POMGNT1 MRAS STX11 XPNPEP2 IGHM SMC3 KIF1A LZTR1 FGB KCNQ2 ANGPT2 BCKDHA BCL2 PCCB TAPT1 SMC1A GTF2IRD2 DNMT1 B2M DUX4 CPT2 ADA PLXND1 ACAT1 TCF3 ANAPC1 SPTA1 VPS37D GRIP1 FASLG ARHGAP24 FGFR3 ACSF3 MAPRE2 MMUT RMRP KCTD1 FSHR FOXG1 CCDC88A GTF2I SLC35D1 HDAC8 ZNHIT3 GNB2 UROS ADA2 KRAS HLA-DPA1 SLC12A1 NDUFAF6 IKBKG EIF2AK4 GPR101 CCR1 SPG11 ANTXR2 SPTBN1 DCLRE1C HFE SGPL1 NAXE HBA1 VSX1 SCNN1B SUMF1 AIP TBL2 COL8A2 SHANK3 NR1H4 VHL PRKAG2 DYSF CACNA1A IL7R ERBB3 TUBB BCKDHB RYR1 SMS RPS20 LHX3 COX16 TBC1D8B CLCNKB PIGN FCGR2A RELN TNNT2 CFH HS3ST6 MED12L LBR RPL26 DNAJC30 GSN MYLPF NDP COL5A2 ANTXR1 OCRL TLL1 ARHGDIA RAD21 PTPN11 RPL27 DHDDS EIF2AK3 SLC5A5 ALPK3 ACTN4 ANKH TSHR DBH CD244 CIITA SLC29A3 MECOM DAAM2 CD2AP COQ8B BRAF CELSR1 DPAGT1 FN1 RPL15 IDH3A IRAK1 SETD2 GATA6 SULT2B1 KLF1 APOA1 TCF4 F12 PIK3CD MYOF SCNN1G SLC22A4 ABCC6 TET2 TSC2 NKX2-6 GLE1 MPI PLCG2 CCN6 EHHADH CYP4V2 KIT PLAA SLC25A13 RPL31 LIPN RASA1 GATC HSPG2 SLC1A3 CHRNA1 HPGD PRSS2 CYP4F22 SFTPC PKHD1 KCNN4 LIG4 ANKFY1 ATN1 NR3C2 RPS17 PRRT2 SMCHD1 PSPH RPS15A CDH11 NOS1AP GRHL2 PRKAR1A GTF2IRD1 NUP37 KNSTRN SDR9C7 ERCC5 SPINK5 MVK IVD DNMT3B RPL35 KLRC4 FOXF1 RPL35A ASS1 NUP160 ALG14 LAMB2 REEP6 SAMHD1 GLB1 LYZ OTULIN DYNC2I1 ANLN HELLPAR DNASE1L3 GPR35 ADARB1 SNX14 TSR2 ACTG1 APC2 DYNC2I2 PLG COL4A3 CDK5 SYK NIPBL TNFRSF11B SCN1A USP8 PROP1 RNF13 TBK1 CYBC1 RP9 OTC ANKRD55 GAPVD1 RPL5 MRPS22 TNFRSF1B LRRC8A SLC26A3 CHD7 IL12A-AS1 CHRND LCT NEB COG6 CD28 GATA4 HLA-DPB1 CALCRL SEMA4D GATM PIK3R1 LAMA3 HSD3B2 PRPH2 ACADM SLC25A4 EMP2 PLVAP CDAN1 ACAD8 NFKBIL1 ASAH1 PRPF31 NAXD POLG NUP93 TALDO1 GPC6 SLC17A5 CD79B NIPAL4 IL2RB IL2RA CYP24A1 LAT2 MYPN TG CPN1 NKX2-5 AGGF1 RPS7 TMPRSS15 CD55 KPTN IL2RG LIMK1 PEX2 BAZ1B HMGCL BLNK ADAMTS2 CEP57 NR0B1 DUOXA2 INS MST1 ACP5 DHCR7 LTBP4 WNT7A MOGS PRPF8 PRKCD TSPAN12 RDH5 KIAA1549 TWNK FKBP6 MEN1 CLDN4 RASA2 TRIP13 MLXIPL NSF TIE1 MT-CYB SLC4A1 PSMG2 DBT CD46 HP_AMYLOIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMYLOIDOSIS B2M MMP1 NLRP1 CST3 NLRP3 APOE COL7A1 SLC7A7 CCND1 PSEN2 ITM2B APP IL31RA TTR PRNP RET TET2 KIT SAA1 MEFV GSN APOA1 SRSF2 POLA1 TNFRSF1A OSMR FGA LIG4 ASXL1 LYZ HP_ABNORMAL_RENAL_CORTEX_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_CORTEX_MORPHOLOGY WT1 COQ2 SDHD NUP133 AVIL NPHP1 WDR73 C3 CFHR3 MT-TS1 CFH UBAC2 NOS1AP KCNJ1 CEP290 MYO1E NUP107 HLA-DPA1 SLC12A1 NUP37 HNF1B SLC37A4 MT-ND6 CLCN5 TREX1 PEX1 MUC1 VHL NPHP3 C4A KIRREL1 COL4A3 MT-TK MEFV PKHD1 CCR1 KLRC4 FOXP3 CRB2 NPHP4 APOL1 KCNQ1OT1 NUP160 FAS LAMB2 APOE LMX1B MT-ND3 PGM3 MT-TS2 SGPL1 ANLN TPRKB TMEM127 SDHB MT-ND1 DNASE1L3 EMP2 CFHR5 FOXC2 C1QC CFI INF2 MT-ND4 NUP85 RET SOX18 ETFA ACSL4 COL4A4 TLR4 COPA MT-TH PAX2 LIPT2 PTPRO GLA MT-ND2 SDHC C1QA MAGI2 MT-TL1 GAPVD1 MT-CO1 WDR19 TBC1D8B DLST MT-TW CEP83 ALMS1 ZNF699 STAT4 MME IL12A-AS1 FCGR2A TRPC6 GATA3 MAX SPRY2 MMP1 C1QB OSGEP HLA-DPB1 KIAA0586 ELP1 AMMECR1 MT-TE SLC7A7 IGF2 DNASE1 PIGQ TP53RK DNMT3A ITGB4 ERAP1 NARS2 INVS SLC12A3 ADA OCRL PRKCD TMEM67 ARHGDIA PLEC MDH2 PLCE1 FCGR2B CFHR2 PRTN3 CLCNKB SOCS1 MT-ND5 IL23R LMNB2 ITGA3 RASGRP1 TTC37 SMARCAL1 ACTN4 NPHS1 WAS KCNE5 NUP93 FAH BSND MMACHC MT-ATP6 CASP10 SEC61A1 NIPBL MT-CO2 NPHS2 DAAM2 CD2AP PBX1 NUP205 JAK1 JAG1 CDKN1C COQ8B HLA-B ZAP70 FN1 SCARB2 KIF1B CD81 OSTM1 DHX16 LPIN2 PEX2 COQ6 COQ7 MTX2 ETFDH MTRR LMNA MT-CO3 IL10 IL12A KCNQ1 WIPF1 DGKE DZIP1L VPS33A COL4A5 PTPN22 XPNPEP3 ETFB CSPP1 MT-TF EPAS1 SDHA NEK8 FH CD96 MT-TQ REN COL7A1 CTLA4 FASLG ARHGAP24 SLC25A11 MYOCD MT-TV ANKFY1 SDHAF2 G6PC1 LAGE3 NF1 HP_ABNORMALITY_OF_RENAL_EXCRETION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_RENAL_EXCRETION CFHR1 CLCNKB NPHP1 CFH HLA-DRB1 KCNJ1 C3 SLC12A1 MUC1 CCN2 DZIP1L SLC12A3 BSND NPHP3 RYR1 CLDN16 HNF1A PKHD1 FAM20A NPHP4 SLC5A2 CYP24A1 CLDN10 AQP2 IRF5 APRT CFI ACE DAAM2 MYH11 GALNT3 CTNS CD46 LZTFL1 AGTR1 CASR SON THBD DMP1 ATP1A1 SARS2 SLC34A1 CCR6 CAV1 CFB REN ITPR3 IL6 KCNJ10 PTPN22 CFHR3 KCNJ5 SLC25A20 MAGED2 TMEM67 CLCNKA PLVAP AVPR2 ENPP1 AGT HP_DECREASED_URINE_OUTPUT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_URINE_OUTPUT CFHR1 CFI ACE CCR6 CAV1 MYH11 CFB RYR1 CD46 AGTR1 REN CFH HLA-DRB1 PKHD1 C3 THBD CFHR3 SLC25A20 CCN2 DZIP1L IRF5 AGT APRT HP_ABNORMAL_RENAL_RESORPTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_RESORPTION MT-TN FAH COA8 HNF4A BCS1L CTNS GALNT3 CLCNKB MT-TS1 CLCNKA FAM20A CEP290 SLC12A3 HNF1B PIGA BSND OCRL SURF1 HP_ABNORMALITY_OF_THE_HELIX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_HELIX PLCB4 SEC24C ADAMTSL2 RB1 A2ML1 ZMIZ1 PTPN11 BICRA GPC4 PIGA DIS3L2 RIT1 COMT RPS23 PIGB KRAS PIGL HOXA2 SDR9C7 JMJD1C VPS51 MAP2K2 PEX1 AMMECR1 RECQL4 BCOR RAF1 EFTUD2 FANCB KANSL1 PGAP2 SPOP GDF11 NDP ALOXE3 NIPAL4 GNB1 GNAI3 PIGV ALOX12B KCNQ1OT1 RTTN NIPBL LONP1 EDN1 SOS1 CBL PBX1 XYLT2 MAP1B CDKN1C BRAF RRAS SOS2 TGM1 SULT2B1 SLC16A2 FBN1 MED12 PIGY AGO2 SMC1A BCL11A FGFR2 HIRA SEMA3E EP300 DACT1 PYCR2 AASS PEX2 FRAS1 TBX1 TCF4 TBX2 ACBD5 NRAS NR2F1 SALL1 TWIST1 ACTB FBN2 PIGO KCNQ1 BMP2 SMS UFD1 HSPG2 EBF3 MRAS PEX5 AMER1 NFIX MAP2K1 CPOX BHLHA9 LZTR1 PIGS NF1 PPP1CB PIGN SPECC1L JUP LIPN GPC3 ZMPSTE24 DOCK7 CSPP1 ZNF462 FGFR3 TFAP2A GP1BB LMNA SLC6A8 CPT2 CREBBP KIAA0586 ARVCF CYP4F22 PIGW CLIC2 FOXP2 COL2A1 RASA2 IGF2 DYRK1A TAF1 PAH CDH2 RRAS2 FOXP1 SETBP1 NARS1 RREB1 NAA10 PPP2R3C FN1 DSP EDEM3 SLC26A2 TCTN3 CHD7 STEEP1 ABCA12 TASP1 DDX6 PGAP3 TGFB3 AFF2 HS2ST1 CHUK HP_ABNORMALITY_OF_THE_INTRAHEPATIC_BILE_DUCT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_INTRAHEPATIC_BILE_DUCT LMBRD1 TMEM67 PEX5 CC2D2A IL12A TNFSF15 PKHD1 RPGRIP1L IL12RB1 JAG1 SPIB IRF5 POU2AF1 MMEL1 PEX1 TNPO3 DZIP1L KIF3B PEX2 LMNA INPP5E HP_ABNORMAL_BLOOD_POTASSIUM_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_POTASSIUM_CONCENTRATION SCN5A CYP11A1 ABCB6 KLHL3 KCNJ1 CLCNKB RYR1 SLC12A1 CLCN2 KCNJ18 SCNN1A NDUFAF6 SCNN1G SCN4A BSND TP53 CYP11B2 SMAD4 HSD11B2 SCNN1B CYP11B1 NNT TXNRD2 LPIN1 CACNA1C CTNS AKAP9 KCNQ1 CA12 KCNJ5 INSR BMPR1A SNTA1 SAMD9 WNK4 KCNE2 KCNJ10 KCNH2 CACNA1S TBX5 WNK1 MAGED2 TRDN SLC34A1 GABRA3 USP8 SCN4B FXYD2 CALM2 AIP GATM SLC30A9 SLC2A1 EHHADH CALM3 CUL3 SLC12A3 CDH23 ATP6V0A4 MC2R NR3C1 STAR SLC26A3 SCN10A ANK2 CLDN10 ALDOA KCNE1 CACNA1D CYP17A1 CALM1 MRAP ATP1A1 CASR UNC45A COL3A1 KCNE3 KCNN4 NOS1AP PIEZO1 SLC4A1 SLC2A2 HSD3B2 CLCNKA KCNJ2 INVS NR3C2 CAV3 OCRL HP_ABNORMALITY_OF_CIRCULATING_ADRENOCORTICOTROPIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CIRCULATING_ADRENOCORTICOTROPIN_LEVEL PDGFB LHX4 USP8 CYP11A1 PROP1 TERT ARMC5 AIP MEN1 BAP1 GLI2 NFKB2 ATRX POR OTX2 CDH23 SOX3 LHX3 SMARCB1 MC2R PDE11A HESX1 DAXX NR3C1 STAR POU1F1 CYP11B1 GNAS TXNRD2 AKT1 TRAF7 MRAP PRKAR1A FOXA2 PIK3CA NF2 SMARCE1 SUFU NNT SMO HP_ABNORMAL_NUMBER_OF_PERMANENT_TEETH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NUMBER_OF_PERMANENT_TEETH MSX1 CDH1 WDR35 IRF6 CREBBP GNB2 MESD SATB2 EP300 C1R RECQL4 DLG1 WNT10A RAB23 RIPK4 UBR1 LRP6 ARHGAP29 KCTD1 DVL3 C1S OFD1 DLX4 BMP4 TP63 NECTIN1 HP_AGENESIS_OF_PREMOLAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGENESIS_OF_PREMOLAR SUMO1 LRP6 IRF6 MSX1 FGF3 WNT10B EDA WNT10A TGFA AXIN2 EDARADD FGFR1 PAX9 HP_ABNORMALITY_OF_DENTAL_STRUCTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_DENTAL_STRUCTURE ATR TRPS1 COL1A1 NF1 GTF2I LAMB3 B3GALT6 GPR68 NRAS SATB1 UROS HERC2 ERCC8 TRIP11 DSPP TGFB1 GJB6 DDX59 ADGRV1 TERT RBBP8 GNAS ITGA6 DNAJC21 NTRK1 COL17A1 WNT10A OBSL1 MBTPS2 ZNF469 SGMS2 PAX9 EDAR USH2A TNFRSF11A NHP2 FAM20C GALNT3 GALNS ERCC6 CDH1 STX16 DMP1 TP63 GJB2 CTSK FAM111A OCRL CENPE RBM28 LRP6 SFRP4 TBL2 EP300 LTBP3 CLEC7A PLEC WDR72 AKT1 FIG4 MIA3 ITGB4 KCNJ2 SLC12A2 SLC13A5 CYP27B1 PARN NDN PORCN DKC1 CDH3 PDZD7 BRF1 VAC14 ALMS1 ERCC2 LAMC2 PHEX PTCH1 ATP6V0A2 NCF1 TINF2 SUFU ITGB6 COL3A1 DNAJC30 ALPL UROD SRCAP ATP6V1A SNRPN COL5A2 COL7A1 PPIB SMARCA2 ROGDI BCL7B GTF2H5 IFT52 ENPP1 ENAM SEC24C CYP2R1 RECQL4 HLA-DQB1 ORAI1 POLR1D COMT NOP10 PDE4D TGFA MAPRE2 JMJD1C ERCC1 PGAP1 MPLKIP LAMA3 PTCH2 IRF6 UBR1 TNFSF11 NECTIN4 ELN TRAF3IP2 RUNX2 IL17RC EIF4H TTC7A IRF5 GJA1 SMCHD1 FGF23 MMP13 POLR1B SUMO1 TARS1 BUD23 SRP54 MTX2 HRAS SMOC2 PLK4 HIRA SNORD116-1 PPP1CB CLDN3 CREBBP FGF10 TBX1 PIK3R1 PTDSS1 TCIRG1 KRT14 AXIN2 CCN2 GTF2E2 FERMT1 TMEM165 PWRN1 MKRN3 PWAR1 CNNM4 COG6 ATP6V1E1 TBCE POLR1C ARVCF WNT10B CTC1 SEC24D AGA ACP4 CLDN1 COL1A2 FAM83H COX7B CUL7 CAV1 NECTIN1 RREB1 P4HB TMEM270 EDA SLC29A3 APC TENT5A LONP1 CDH11 GTF2IRD1 ALDH3A2 KIF7 RAI1 DEAF1 OFD1 FLII ATRIP RELT ELMO2 CA2 SERPINH1 TERC TRMT10A EDARADD IFITM5 LMX1B MSX1 IFT43 TCOF1 ABL1 NDUFB11 MYO7A FGFR3 SBDS RNF113A METTL27 PEPD CLDN19 COL2A1 SEC23A CLCN7 PAX1 GLB1 TRAIP NUP133 UBE3B PCNT DLX3 USH1C MMP1 PTEN SLC10A7 GATA1 NEK1 ERCC3 PPP1R15B RHOA FGFR2 SLC37A4 WDR19 GRHL2 ZMPSTE24 IKBKG IFT122 PEX6 RFC2 AP3B1 TRIM37 IL17RA AIRE KCNJ5 FKBP10 EFL1 NPM1 IL17F LMNA MAGEL2 LRP4 WHRN C12orf57 AMELX KDELR2 LIFR SHOC2 SMARCD2 HCCS CLIP2 FGFR1 THOC6 ABHD11 SCUBE3 ESPN CDH23 ELANE ERCC4 PCDH15 FAM20A IFIH1 COX4I2 KRT5 LAT2 STX1A CTNND1 VDR CCDC8 CEP152 SLC35A2 COL5A1 PEX1 CCR6 LIMK1 IQSEC2 KRAS BAZ1B FGF3 HLA-DRB1 MMP20 UFD1 PERP SLC24A4 RTEL1 PIK3C2A TSC1 KLK4 WRAP53 DHCR7 CENPJ USB1 GTF2IRD2 GP1BB ODAPH CIB2 HLA-DQA1 FKBP6 CRLF1 CLDN4 FLNB NPAP1 ANAPC1 VPS37D CSTB MLXIPL AMTN AMBN USH1G WDR35 SNORD115-1 STIM1 PKP1 TRPV3 HP_MISALIGNMENT_OF_INCISORS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MISALIGNMENT_OF_INCISORS SCUBE3 CHSY1 ANKRD11 GATAD2B RNF2 ATRX DOCK7 ALX3 STAG1 DNMT3A TUBGCP2 HP_ABNORMAL_INCISOR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_INCISOR_MORPHOLOGY PALS1 JARID2 MYT1L KMT2E LRP6 CCDC32 TGFA ZMIZ1 PURA FGFR1 DYNC2LI1 EVC WASF1 IKBKG NTNG1 CHSY1 IRF6 ARHGAP29 WNT10A WDFY3 EDARADD GLI1 PAX9 BMP4 CCBE1 MSX1 VPS13B CTCF TRIP12 CREBBP SLC12A2 SVBP TANC2 MED27 GRIA4 SUMO1 CNOT3 ACTL6B KCNMA1 EP300 TCF20 DLX4 ATP6V1B2 TP63 NECTIN1 TBC1D24 HUWE1 KAT8 DPYSL5 HS2ST1 BPTF GRIA3 AXIN2 PUS7 DDX6 PTPN23 EVC2 MED13 UBR7 NEK1 NTNG2 BRF1 FARS2 FGFR3 NHS DOCK3 FGFR2 GJA1 RLIM CDH1 ACTL6A FGF10 MAPK8IP3 COL11A1 HPDL WNT10B KCNK9 HTT B3GLCT BCORL1 DLG1 KDM4B TNRC6B PSMD12 TRMT1 TRAPPC4 EDA SATB1 FBXW11 AGO2 MADD HP_ABNORMAL_NUMBER_OF_INCISORS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NUMBER_OF_INCISORS DLL1 SHH LRP6 FOXH1 DLX4 SIX3 TDGF1 STAG2 CDON SMC1A TGFA PTCH1 FGFR1 ZIC2 EVC2 BCOR GLI2 STIL GAS1 IRF6 ARHGAP29 WNT10A FGF8 NODAL EDARADD PAX9 BMP4 CNOT1 MSX1 TP63 ANKRD11 DISP1 SUMO1 EIF4A3 TGIF1 EVC BLM NECTIN1 AXIN2 DLX3 NEK1 NHS CDH1 WNT10B B3GLCT DLG1 RIPK4 NAA10 EDA SUFU HP_CONICAL_INCISOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONICAL_INCISOR CDH1 MSX1 LRP6 IRF6 FGF10 WNT10B WNT10A TGFA AXIN2 EVC2 B3GLCT FGFR1 DYNC2LI1 EVC DLG1 IKBKG SUMO1 NEK1 ARHGAP29 EDA EDARADD FGFR3 DLX4 GLI1 FGFR2 PAX9 BMP4 TP63 CCBE1 NECTIN1 HP_SUPERNUMERARY_TOOTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPERNUMERARY_TOOTH APC RPS23 CCBE1 DVL1 FGF3 DVL3 RECQL4 DDX59 HSPG2 FAT4 KCNE5 CAMTA1 IRF6 C2CD3 ROR2 DHCR7 DYNC2LI1 PUF60 ADAMTS3 KCNN3 RUNX2 NHS EXT1 BCOR TP63 DYRK1A TRPS1 ATP6V1B2 CREBBP AMMECR1 KCNH1 WNT5A MSX1 ACSL4 FZD2 NXN NECTIN1 OFD1 PIGL EP300 MSX2 IL11RA HP_ABNORMALITY_OF_DENTAL_COLOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_DENTAL_COLOR USH2A ENAM TENT5A KDELR2 MBTPS2 GLB1 NRAS SATB1 GALNS KCNJ2 UROS ITGB6 KCNJ5 SLC13A5 UROD ADGRV1 GATA1 PDZD7 ITGB4 FAM20A RELT HRAS ALMS1 MYO7A COL17A1 AMBN ROGDI DLX3 WHRN CNNM4 KRAS HP_ABNORMALITY_OF_CANINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CANINE APC SUMO1 LRP6 CHSY1 IRF6 MSX1 FGF3 WNT10B EDA WNT10A TGFA AXIN2 EDARADD FGFR1 PAX9 DDX59 KDM1A HP_IMPACTED_TOOTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPACTED_TOOTH CDH11 PTH1R SH3BP2 HOXD13 LMNA FLNA ZMPSTE24 HP_INCISOR_MACRODONTIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCISOR_MACRODONTIA PALS1 JARID2 TBC1D24 MYT1L KMT2E CCDC32 HUWE1 KAT8 DPYSL5 HS2ST1 BPTF GRIA3 ZMIZ1 KCNMA1 PUS7 DDX6 PTPN23 PURA MED13 UBR7 WASF1 NTNG1 NTNG2 BRF1 CTCF WDFY3 FARS2 DOCK3 GJA1 RLIM VPS13B ACTL6A MAPK8IP3 COL11A1 TRIP12 HPDL SLC12A2 SVBP KCNK9 TANC2 HTT MED27 BCORL1 GRIA4 KDM4B TNRC6B PSMD12 TRMT1 CNOT3 TRAPPC4 ACTL6B SATB1 FBXW11 AGO2 TCF20 ATP6V1B2 MADD HP_INCREASED_OVERBITE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_OVERBITE SPART SIX1 EP300 EYA1 ALKBH8 ACP4 RIC1 HP_PERIPHERAL_DEMYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_DEMYELINATION MT-ND2 SURF1 MPZ ABCA1 ARHGEF10 NDRG1 TYROBP GALC MT-TL1 MT-ND5 LITAF PMP22 NEFL UBTF MTTP DNM2 FA2H PRX SOX10 SBF2 MMACHC MT-ATP6 MT-TW PLP1 SH3TC2 MT-ND6 MAT1A SPTBN1 HK1 MT-ND3 PRPS1 CTDP1 TPRKB LRPPRC MOCS2 FLVCR1 MT-ND1 MOCS1 NDUFAF4 MT-TK PSAP SUMF1 MT-TV ARSA GDAP1 MT-ND4 KIF1C EGR2 GCDH LMNB1 COQ7 HP_EPILEPTIC_SPASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPILEPTIC_SPASM GAD1 SEPSECS HIBCH STXBP1 PTPN23 GRIN2B PDHA1 ALG13 NSUN2 SLC13A5 C12orf4 ZNHIT3 GRIK2 GABBR2 NTRK2 AIMP1 PHACTR1 PIGQ CLTC WASHC4 KCNQ5 NBEA SARS1 HIVEP2 APC2 SPTBN1 MT-ND3 GRM7 KDM5B NPRL3 PIGA UBE4A MFF MED25 SCN1B UFSP2 NDST1 NEXMIF NCDN MT-ND1 CDH15 TSC2 ZC3H14 MGAT2 CDKL5 MT-ND4 TECR MED23 KCNA1 SIK1 CSNK2B PIGP MAPK1 ZMYND11 TRAPPC9 TRPM3 TRAPPC12 MYT1L IQSEC1 LMAN2L MT-ND2 NGLY1 CLIP1 GNAO1 RNF13 CRBN SCN2A METTL23 CUL3 SLC35A2 SCN8A SLC19A3 PRSS12 CASK TSC1 TUBA8 ST3GAL3 MT-TW DOCK7 IFNG HK1 DCPS SETD1B WDR45 PLPBP KDM4B KCNB1 CUX1 LONP1 NDUFAF8 SLC25A10 TSEN2 B3GALNT2 CDH2 TTC5 UGDH SETBP1 FBXO31 FOXG1 RSRC1 NPRL2 ALDH7A1 GUF1 DLL1 FRRS1L SLC25A22 EZR SCN1A MAN1B1 DMXL2 PURA ARX DHX37 MBD5 TRIM8 MT-ND5 ALG2 PSAT1 ACTL6B CDC40 PLCB1 EDC3 PGAP1 MMACHC CHAMP1 EPB41L1 MT-ATP6 DEAF1 BRSK2 NTNG1 NEUROD2 LINS1 FMN2 CNPY3 TANGO2 CAMK2B ADGRG1 PNKP SRPX2 CIC SMARCA2 ALKBH8 DPAGT1 CACNG2 MT-TK TAOK1 PAFAH1B1 TBCD GRIN2A KIRREL3 SPTAN1 HNMT TNIK SMC1A AKT3 ASH1L SYNGAP1 RAB11A DEPDC5 DHX16 DCX EEF1A2 GCDH SLC12A2 PIGC CLCN4 MT-TL1 KIF1A ALG14 EHMT1 PI4KA MBOAT7 SLC45A1 PIK3CA KCNQ2 GRIN1 VPS53 RALGAPA1 SET MT-ND6 RNU4ATAC MECP2 SLC1A4 TCF4 PPIL1 MED12L TSEN15 CDK19 DOCK8 FBLN1 NSF SPATA5 MT-TV COX4I1 PPP3CA PHGDH TSEN54 STRADA ASAH1 TUSC3 CC2D1A DYNC1H1 CRADD TSEN34 NEMF CAMK2A BTD HP_SPEECH_APRAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPEECH_APRAXIA PALS1 JARID2 MYT1L TRAPPC11 KMT2E PURA CCDC32 HUWE1 KAT8 GALK1 CHD3 GRIN2A DPYSL5 SLC25A15 HS2ST1 BPTF SRPX2 ZMIZ1 PUS7 DDX6 PTPN23 POU4F1 MED13 MAPT UBR7 EBF3 WASF1 SPART NTNG1 CHD1 NTNG2 WDFY3 STUB1 SH2B1 DOCK3 NONO PACS1 RLIM ACTL6A RAI1 MAPK8IP3 TRIP12 HPDL USP7 SLC12A2 KANSL1 SVBP FOXP2 DLAT TANC2 HTT MED27 BCORL1 GRIA4 GALT KDM4B SRCAP RNF135 TNRC6B PSMD12 TRMT1 FRRS1L CNOT3 TRAPPC4 ACTL6B KCNMA1 SATB1 FBXW11 AGO2 FOXP1 TCF20 MADD KDM6B HP_INTESTINAL_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTESTINAL_ATRESIA SHH RERE BUB3 PIGN PPP1R12A SIX3 BUB1B ZIC2 BUB1 DIS3L2 SALL1 NODAL CDON FBN2 SEMA3E MYCN FGFR1 DYRK1A KDM3B PORCN MIR17HG CEP57 FANCF FANCB STIL ITGA6 GLI2 FOXH1 ZNF699 DISP1 RFWD3 PTCH1 FOXF1 WBP11 FGF8 FLI1 RTTN SPINK5 TTC7A ITGB4 MYH11 CENPF SON TDGF1 TRIP13 RAD51C SIN3A CHRM3 DLL1 TGIF1 RFX6 TCTN3 STAG2 GAS1 SUFU CHD7 HP_ABNORMAL_LEFT_VENTRICULAR_OUTFLOW_TRACT_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LEFT_VENTRICULAR_OUTFLOW_TRACT_MORPHOLOGY CEP57 HDAC4 MYH6 GATA5 BUB3 NKX2-5 TAB2 BUB1B BUB1 FGFR1 NOTCH1 MYH7 SMAD6 PTPN11 WDPCP IFIH1 TRIP13 ALG9 MYLK2 CAV3 HP_ABNORMALITY_OF_BLOOD_VOLUME_HOMEOSTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_BLOOD_VOLUME_HOMEOSTASIS AQP2 MYLK SMAD3 TGFB3 SMAD2 TGFBR2 CYP11A1 CTNS PRKG1 MFAP5 FBN1 ACTA2 STX3 FOXE3 ABCC8 MYH11 KCNJ11 LOX PDX1 TGFBR1 STAT3 INS CYP11B2 MAT2A FSHR GCK MYO5B ELN HEY2 AVPR2 TGFB2 SMAD4 HP_RECURRENT_SINUSITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_SINUSITIS PIK3CD TNFRSF13B SH3KBP1 IGHM CD19 MGP COL5A1 IL17RA RAC2 MAGT1 TNFRSF13C NFKB2 RSPH1 GAS2L2 LRBA COL5A2 CFAP298 ALMS1 ACP5 UNC119 WAS IVNS1ABP DNAAF2 DNAI2 DNAAF4 NME8 ADA2 SPAG1 ICOS DNAAF11 RSPH4A NEK10 CR2 DOCK8 IRF2BP2 DNAJB13 STK36 USB1 DNAAF6 FCGR3A ODAD1 DNAH5 HYDIN MCIDAS ODAD2 CFI ZMYND10 CCDC65 IKBKB IL21R DNAAF5 STXBP2 NCF4 PRKCD PSMB8 RNF168 MDM4 NFKB1 HP_CHRONIC_SINUSITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_SINUSITIS SPEF2 DNAI2 CCDC39 CFAP221 DNAH1 CCDC103 ODAD2 RSPH4A DNAAF6 DNAAF2 TAP1 CD79B ODAD3 TAPBP DRC1 DNAH9 RSPH9 TAP2 MCIDAS DNAH11 DNAAF3 FCGR2A CCDC40 CFTR CFAP300 DNAAF4 ODAD4 TTC12 DNAL1 DNAAF1 GAS8 DNAJB13 TGFB1 RSPH1 DNAAF5 RPGR BLNK CCNO CCDC65 FOXJ1 OFD1 SPAG1 MGP ZMYND10 DNAI1 NME8 NEK10 ODAD1 DNAH5 RSPH3 DNAAF11 CFAP298 LRRC56 PGM3 HYDIN RNF168 STK36 GAS2L2 HP_RECURRENT_TONSILLITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_TONSILLITIS CYBC1 MPEG1 RIPK1 BLM SCNN1A SCNN1G SCNN1B ELANE HP_ABNORMALITY_OF_IMMUNE_SERUM_PROTEIN_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_IMMUNE_SERUM_PROTEIN_PHYSIOLOGY PRF1 PRKCD ATP8B1 IL2RB CD247 RNASEH2C STXBP2 IL12RB1 STX11 RASGRP1 FASLG IFIH1 STAT4 SAMHD1 PTPN22 ANKRD55 NFKBIA UNC13D FADD PTPN2 MEFV FAS NR1H4 ABCB11 RNASEH2B RNASEH2A ADAR POLA1 CASP10 TREX1 STAT1 IL2RA PSMB8 SP110 ABCB4 IL6R HP_ABNORMALITY_OF_CYTOKINE_SECRETION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CYTOKINE_SECRETION PRF1 NFKBIA STX11 UNC13D MEFV STXBP2 HP_ABNORMALITY_OF_TUMOR_NECROSIS_FACTOR_SECRETION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_TUMOR_NECROSIS_FACTOR_SECRETION PRF1 STX11 UNC13D MEFV STXBP2 HP_ABNORMALITY_OF_THE_NASAL_DORSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_NASAL_DORSUM ATR TENT5A DLL1 RPL10 TCTN2 CNOT3 WDR73 BUB3 SIX3 BUB1B ERF TMEM231 WRN POLR3A LMNA PTCH1 PEX1 FOXC1 COG4 FGFR1 RNASEH2A BMPER ZIC2 SLC25A24 HNRNPK RBBP8 STIL SOX3 ATRIP MBTPS2 TCTN3 GLI2 ALG9 MMP23B PKHD1 EDARADD TDGF1 FGF8 STAT5B NSD2 FGFR3 PAX7 ARSL ITCH TCTN1 BANF1 SPEN DISP1 GLB1 ZEB2 FGFR2 CSPP1 IFIH1 EFNB1 SAMHD1 TRAF6 PRKAR1A NFKBIA CENPE PSAT1 MGAT2 NUP188 GAS1 COL1A1 FOXH1 CSGALNACT1 PEPD EP300 KDF1 PIGL ALDH18A1 PYCR1 NODAL ALX4 TRAIP STAG2 SATB2 EDA RERE PRKCZ FGF20 SHANK3 PCNT SHH NALCN RNASEH2B RET ZMPSTE24 SUZ12 SOX9 AP4M1 RPGRIP1L FGFRL1 DONSON LUZP1 CHRND SMARCA2 HDAC6 CPLX1 ASPH RUNX2 TMEM67 ERCC2 ATP7A CREBBP B9D1 FOXA2 TGIF1 MSL3 APC EBP CEP55 PTF1A PRMT7 CDON ADAR CHRNG GREB1L COL3A1 PTPN11 TXNDC15 LRP4 PROP1 TMEM237 LEMD2 C12orf57 TBX1 TBL1XR1 TMEM107 ZPR1 KDELR2 SNAP29 CTBP1 RNASEH2C BUB1 GMNN SLC35C1 SMC1A SLC2A10 TTC37 DMXL2 CEP152 RMRP FBXL4 UBR1 ERCC4 LETM1 PEX12 TREX1 TBCE NHEJ1 DNA2 RPGRIP1 POLD1 ABCA12 MAN2B1 CENPT VPS13B NBN HSPA9 GLI3 KCNAB2 B9D2 HESX1 LIG4 UBE4B CANT1 ITGA8 PLK4 MKS1 FAM20C TFAP2B TWIST2 SKI AASS MTX2 LHX4 TMEM216 COL1A2 LMBR1 HSPG2 PHGDH DZIP1L PDE4D OTX2 XRCC4 CEP57 CASZ1 CC2D2A PRDM16 NRAS IGF1 POU1F1 MYH3 CENPJ METTL5 MEIS2 ADAT3 SOST RPS19 CHRNA1 FBN1 ATRX EDAR GRIP1 TRIP13 HRAS TWIST1 EDA2R PPP2R3C EFEMP2 GHR MN1 GABRD PDPN PAX3 IL2RA CEP290 HP_CONCAVE_NASAL_RIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONCAVE_NASAL_RIDGE NFKBIA SOST CANT1 IGF1 ZEB2 STAT5B KDF1 FOXC1 EBP DMXL2 SHANK3 PEPD IL2RA FBXL4 HP_ABNORMALITY_OF_SKIN_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SKIN_PHYSIOLOGY PSENEN SLC4A1 RNU4ATAC NRAS RAG1 PIGA CCDC47 SH3PXD2B UROS HLA-DPA1 FLI1 LACC1 GNA11 HPGD FECH TREX1 GJB6 IKBKG KANSL1 IL4R LAMB3 GPR101 ITGA6 NR1H4 GJB3 C5 DNAJC21 CARD9 CCR1 ZAP70 EDARADD MEFV TNFAIP3 MBTPS2 CBL IVNS1ABP NCF2 NCSTN NBEA ECM1 EGFR IL7 DCLRE1C BRAF ERCC2 NFE2L2 FAS CD247 RFXAP SDHA ATP2A2 BAAT AGA NIPAL4 KRT1 IRF2BP2 GJB2 IL7R IL2RG TGM1 IFIH1 SCNN1B SAMHD1 AIP CFI ABCB4 LBR MYD88 SHANK3 STAT3 KDF1 CIITA ABCB11 CYBB CHST14 COL7A1 CLEC7A ERCC3 ATP8B1 SRP54 PSTPIP1 TP63 MIA3 FGFR2 RBP4 SMARCC2 VEGFC SIK3 WNT4 MVD DOCK8 TGM5 LIG4 STAT4 CYP7B1 IKZF3 WDR1 WAS AK2 LAMC2 NOD2 PEPD FCGR2A HLA-DRB1 KRT5 ITGB4 LRP1 BTK POLE PCCA TET2 NFKB2 GSN CTLA4 UROD MS4A2 RFX5 CD79A KIT ERAP1 RNASEH2C TMC8 FLT4 HDAC4 SRSF2 UBA1 UBE2A ADAR GTF2H5 ALOXE3 DCDC2 KRT10 XIAP CASP10 SEC24C HLA-DQB1 ERCC5 GATA3 IL12A CARD14 LCP2 COMT KRT14 IL23R SREBF1 HLCS JMJD1C LRRC32 GJB4 SUOX IGLL1 FAT4 MPLKIP KRT17 STAT1 CDK10 IL1RN RAG2 MPL SLC30A2 SHOC2 SLC29A3 TRPV3 TRAF3IP2 IL17RC TTC7A ABCA12 SLC17A9 PRF1 SCN9A MVK RUNX1 FOXP3 DDX41 NSUN2 LIPA SMARCA2 CASR PIK3CA LYST DHCR7 ZNF750 IRAK1 PSMB9 SULT2B1 FH ESR1 SLCO2A1 CSTA PSEN1 TARS1 IKBKB APOA1 NLRP3 GJC2 HIRA LPIN2 PIK3CD MIF PSMB8 CYBA TBX1 MYSM1 RIPK1 IL10 MRTFA IL17RA BCL11B PLCG2 JAK2 NCF1 GTF2E2 TBCK CTSB FERMT1 LRBA AUTS2 LIPN IL6 IRF5 FOXN1 IL36RN IL6R SPTA1 ARVCF CYP4F22 MSN UNC45A SLC27A4 FAM111B POFUT1 POMP PTPN3 NSMCE3 RREB1 CDH23 AP1S3 IL10RB SLC6A19 HLA-B PAH PLA2G7 AR IL2RA BTD ASXL1 CERS3 ENPP1 GFI1 UBAC2 SPTB KIF11 KNSTRN SDR9C7 HLA-DRA MBL2 SCNN1G STX3 SPINK5 DSG4 CD3G KLRC4 GPNMB MPEG1 CYP11B1 PTPRC SCN11A RTTN C4A LYZ PKHD1 RFXANK EPOR OTULIN NEK9 EPB42 PGM3 EXTL3 LSS NLRP12 STXBP2 ADA TEK PERP RAC1 DNASE1L3 GPR35 TRAF6 FOXC2 RRAS2 SBDS H6PD SYK CARD11 RNF113A PDGFRA TLR4 BLM TMC6 SMARCAD1 JAK3 RBCK1 STING1 CACNA1G HLA-C MORC2 ACP5 TCF4 ANK1 CYBC1 STX11 FDPS NLRC4 EPG5 PMVK MPDU1 CARMIL2 TNFRSF1B GATA1 TNFSF15 SLC39A4 RNASEH2B ABCC6 LRRC8A CHD7 TNFRSF1A TJP2 ADAMTS3 IL17F IL12A-AS1 EDA ADA2 SRD5A3 DSE IFNG LMBRD1 ADAM17 ATP7B CD3E TKT MMP1 SDHC CD28 HLA-DPB1 AP3B1 SEMA4D NCF4 PNPLA1 AIRE DNASE1 TAF1 EFL1 EBP USP8 CTSC PSMB4 PIK3R1 LAMA3 GINS1 FOXP1 PRMT7 MTHFD1 TCIRG1 CASP8 RBM8A OSMR MYO5B TGFB1 FGA SP110 ERCC4 PAPSS2 NFKB1 KRT9 IL10RA FCGR2B AP1B1 PRTN3 ALOX12B ZNF341 NAXD DSP TNPO3 KRT16 CDSN UNC13D TFRC CD79B ACADVL RNASEH2A ELANE MCCC2 COX4I2 LHCGR CCBE1 XYLT1 HSPA9 GJA1 NUP107 PSMB10 WIPF1 IL12RB1 JAK1 BTNL2 STAT5B IL31RA CIB1 FERMT3 MSMO1 PRKACA EPAS1 IL6ST NCKAP1L SPP1 BLNK POLR3A MMEL1 UFD1 THPO SCN10A PNPLA2 POGLUT1 PTPN22 HYOU1 IGHM MST1 SCNN1A FLG NR3C1 MNX1 PCCB FLG2 GP1BB MEIS2 CLTRN LDHA B2M AQP5 SDHB TRPM4 HLA-DQA1 TCF3 POU2AF1 EDAR DSG1 CD3D RMRP SPIB MC1R ASPRV1 CFTR KDSR SMG8 HSD3B7 PKP1 RIT1 HP_ABNORMAL_EPIDERMAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EPIDERMAL_MORPHOLOGY JUP SAMHD1 KRT1 CARD14 NLRP1 ALOX12B ALOXE3 CAST CERS3 ENPP1 XYLT2 ATP2A2 KIF11 CLDN1 HLA-B GJA1 DSP CDSN EXPH5 WNT10A MPDU1 CARMIL2 CHST8 LRBA IL1RN TGM5 FLG GJB3 KRT2 AAGAB NIPAL4 SULT2B1 IL36RN COL14A1 ZMPSTE24 EGFR GRHL2 LDHA XYLT1 ADAM17 KRT13 LRP1 SMARCAD1 CYP26C1 TGM1 CASP14 ABCC6 POGLUT1 LMNA PERP IKZF1 IL7R SERPINB8 SERPINB7 KRT6C SLC27A4 DSG1 AKT1 KDSR ATP2C1 LIPN ELOVL4 CSTA DCAF17 RASA1 CIB1 PPP2R3C KRT10 DSC3 MBTPS2 OSMR CYP4F22 PKP1 RNF168 IL2RA HP_ABNORMALITY_OF_DERMAL_MELANOSOMES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_DERMAL_MELANOSOMES LYST GPR143 RAB27A AP3B1 MYO5A HP_INCREASED_SENSITIVITY_TO_IONIZING_RADIATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SENSITIVITY_TO_IONIZING_RADIATION TRAF7 PDGFB MRE11 NSMCE3 SMARCB1 BAP1 TERT RNF168 PIK3CA NF2 SMO SMARCE1 SUFU AKT1 HP_LOW_GRADE_FEVER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_GRADE_FEVER MPL PTPN2 IL2RB IL2RA ANKRD55 JAK2 PTPN22 CD247 TET2 CALR STAT4 HP_SYMPTOMATIC_SEIZURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYMPTOMATIC_SEIZURES CYP2R1 ABCC8 GATA3 MRAP VDR SLC16A1 STX16 POMC HADH GLUD1 CYP27B1 GCM2 FAM111A POGZ TBX19 PROP1 GNAS HNF1A TNFRSF11A MC2R AKT2 STAR SLC37A4 KCNJ11 TBCE INSR UCP2 NNT TANGO2 PCSK1 TXNRD2 GCK HP_DIALEPTIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIALEPTIC_SEIZURE CUX2 PCDH19 SATB1 NHLRC1 GNB2 FAR1 SCN9A DNM1L GABRA1 GRIN2A DPM1 SLC13A5 NFKB2 SCN1A ADGRG1 ZNF41 PIGQ MTHFR CLTC CRIPT KCNQ5 KCNMA1 VPS11 NBEA SLC9A7 HIVEP2 STX1B ZNF81 KDM5B ADGRV1 NPRL3 SCN1B ATXN10 STXBP1 FRMPD4 CHD2 SCN8A GABRG2 ZEB2 CILK1 NEXMIF GOSR2 AGTR2 PTCHD1 CDH15 ARHGEF9 DHDDS CACNA1A APC2 ARX GABRD GDI1 ATAD3A SCN2A FTSJ1 PAK3 KCNQ2 GATAD2B KCNA1 MICAL1 CSNK2B SLC6A1 PIGP ZMYND11 FIG4 TRPM3 RELN DPM3 MAPK10 MYT1L ATP6V1B2 WDR26 NGLY1 GNAO1 RORB TBK1 CDKL5 CASK SON SETD1B GABRB3 SYP PNPLA8 DLG3 CACNB4 CACNA1H SLC2A1 ALDH5A1 ALMS1 DOCK7 CPA6 GAMT MTOR ALDH4A1 EFHC1 SIK1 CACNA1D PLPBP FMN2 KCNB1 AFF3 CUX1 TRAF3 PTEN SYNGAP1 PIGM DNM1 AP2M1 PRRT2 HNRNPK SZT2 CDH2 HCN1 KCNT2 GLUD1 NPRL2 CLN8 ALDH7A1 DMD TGFB1 SLC35A3 JRK DLL1 SLC12A5 POGZ SLC25A22 OPHN1 ACSL4 CEP85L ZNF711 CNKSR2 MID2 DMXL2 MBD5 LGI1 TRIM8 UBE3A ARHGEF6 PGAP1 NUBPL EPM2A RAB39B KIF4A GPAA1 TLR3 CHAMP1 EPB41L1 ASAH1 TICAM1 DEAF1 PIGT NSD1 GNB1 BRSK2 RPS6KA3 NEUROD2 WAC CLCN2 ALG13 TANGO2 CAMK2B PNKP KCNQ3 MECP2 USP27X CIC SMARCA2 CSTB CACNG2 SETD2 TAOK1 PAFAH1B1 UNC93B1 KIRREL3 FRRS1L TSPAN7 ASH1L RAB11A DEPDC5 NUS1 MED12 TBC1D24 IQSEC2 STEEP1 EEF1A2 CLCN4 KIF1A PDE2A GRIN2B EHMT1 IL1RAPL1 LAMA2 SMPD1 UPF3B GRIN1 SET SATB2 RNU4ATAC USP9X GAL TSC2 TCF4 DYRK1A MED12L VPS35L DOCK8 SRPX2 FGF13 SPATA5 HCFC1 PPP3CA PHGDH DHFR ACSF3 STRADA TSC1 DYNC1H1 CAMK2A HP_TYPICAL_ABSENCE_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPICAL_ABSENCE_SEIZURE STXBP1 EEF1A2 MBD5 KIF1A DPM1 SLC13A5 GRIN2B GABRB3 GABRG2 CACNA1H CHAMP1 EPB41L1 ASAH1 ADGRG1 SLC2A1 ALMS1 DEAF1 BRSK2 GRIN1 CLTC SET SATB2 WAC KCNQ5 ALDH4A1 NBEA HIVEP2 CAMK2B SETD1B TCF4 HNRNPK JRK KDM5B PLPBP DYRK1A MED12L CUX1 CIC PTEN GRIN2A DOCK8 CDH15 CACNG2 TAOK1 GABRA1 KIRREL3 PPP3CA FRRS1L ASH1L SYNGAP1 RAB11A CSNK2B ALDH7A1 ZMYND11 TRPM3 DYNC1H1 DLL1 MYT1L CAMK2A HP_MYOCLONIC_ABSENCE_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOCLONIC_ABSENCE_SEIZURE GABRG2 JRK SCN1A CACNA1H SLC2A1 FRRS1L GRIN2A SYNGAP1 KCNMA1 SETD1B DHDDS GABRB3 GABRA1 HP_EARLY_ONSET_ABSENCE_SEIZURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EARLY_ONSET_ABSENCE_SEIZURES ALDH7A1 PLPBP ALDH4A1 DPM1 SLC13A5 HP_FOCAL_MOTOR_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_MOTOR_SEIZURE GABRG2 SCN1A PURA CHRNA4 SATB1 SLC12A5 SCN2A MBD5 LGI1 FAR1 PTPN23 GABRA1 GRIN2A DMXL2 SLC13A5 SCN1B AP3D1 SDHAF1 CRH CHAMP1 EPB41L1 KCNT1 DEAF1 BRSK2 TBC1D24 CLTC TMEM231 KCNQ5 NBEA HIVEP2 CAMK2B KDM5B CIC ATXN10 STXBP1 SCN8A KANSL1 DPAGT1 CDH15 CACNG2 SMARCAL1 TAOK1 PAFAH1B1 KIRREL3 DEPDC5 KCNQ3 KCNQ2 SLC25A22 AKT3 FRRS1L ASH1L SYNGAP1 RAB11A MICAL1 SIK1 CSNK2B ZMYND11 TRPM3 RELN MYT1L PYCR2 CHRNA2 CACNA1A NGLY1 CLN5 EEF1A2 KCTD7 ATP1A2 CLCN4 KIF1A SMS GRIN2B CAMTA1 PIK3CA SDHB GRIN1 HACE1 SET CABP4 EN1 PCDH19 SETD1B TCF4 EXTL3 CACNA1D SLC1A3 PLPBP ARX DPYD MED12L CUX1 SDHA DOCK8 SRPX2 ATP1A3 SCN9A PRRT2 PPP3CA ALDH7A1 DYNC1H1 DLL1 CAMK2A BTD CHRNB2 SDHD HP_FOCAL_AUTONOMIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_AUTONOMIC_SEIZURE RELN DEPDC5 KCNQ3 GAL KCNQ2 LGI1 MICAL1 HP_FOCAL_SENSORY_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_SENSORY_SEIZURE CACNA1A TREX1 SCN1A CNTN2 SRPX2 NHLRC1 LGI1 EPM2A MICAL1 ATP1A2 PRRT2 KCNA1 RELN GAL ADGRG1 PI4KA HP_FOCAL_SENSORY_SEIZURE_WITH_VISUAL_FEATURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_SENSORY_SEIZURE_WITH_VISUAL_FEATURES CNTN2 RELN NHLRC1 LGI1 EPM2A MICAL1 HP_FOCAL_MYOCLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_MYOCLONIC_SEIZURE CACNA1D PLPBP CAMTA1 SDHAF1 SLC25A22 SATB1 CLN5 KCTD7 SDHA SDHB SIK1 ALDH7A1 HACE1 TMEM231 GRIN2A SLC13A5 PYCR2 AP3D1 EXTL3 SDHD HP_FOCAL_TONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_TONIC_SEIZURE SCN2A KCNQ3 NGLY1 PURA KCNQ2 SLC25A22 AKT3 CLCN4 SCN8A PIK3CA SIK1 EN1 PRRT2 HP_GENERALIZED_CLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_CLONIC_SEIZURE PNKP GABRG2 DMXL2 KCNQ3 GNAO1 SATB1 STXBP1 GABRA1 SCN2A SCN1B TRIM8 SCN8A CDKL5 GRIN2A CASK SCN9A PCDH19 ARX PRRT2 PSAP ACSF3 SCN1A KCNQ2 KCNA1 PIGQ PIGP NEUROD2 SLC25A22 DPM2 SIK1 HP_GENERALIZED_MYOCLONIC_ATONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_MYOCLONIC_ATONIC_SEIZURE SLC6A1 MED13 SLC2A1 AP2M1 NEXMIF SCN1A SYNGAP1 CHD2 HP_SIMPLE_FEBRILE_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SIMPLE_FEBRILE_SEIZURE SEPSECS NPRL3 KCNQ3 TBC1D24 TSEN15 SYNGAP1 KCNQ2 CHD2 AP2M1 SCN8A TSEN2 PRRT2 DYRK1A SLC2A1 SCN2A CPLX1 NEXMIF TSEN54 NPRL2 DEPDC5 SLC6A1 TSEN34 WAC SCN1A AASS HP_COMPLEX_FEBRILE_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMPLEX_FEBRILE_SEIZURE CACNA1A GABRG2 SCN1A COG4 STXBP1 GABRA1 SCN2A FAR1 ATP1A2 ADORA2A PRRT2 PDE2A SCN8A SCN9A PCDH19 SCN1B HP_EEG_WITH_FOCAL_EPILEPTIFORM_DISCHARGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_FOCAL_EPILEPTIFORM_DISCHARGES CUX2 GABRG2 SCN1A MAN1B1 DMXL2 CHRNA4 SATB1 GRIN2A TBC1D24 MYD88 SCN2A TRIM8 AP2M1 TBC1D2B UBE3A PSAT1 PDHA1 NSUN2 SLC13A5 SCN1B C12orf4 COQ2 GRIK2 EDC3 PGAP1 AIMP1 SRPX2 CRH DAG1 KCNT1 PIGT GNB1 RELN PIGG PIGQ DEPDC5 WASHC4 NEUROD2 LINS1 FMN2 SARS1 ADGRG1 SPTBN1 PNKP GRM7 NPRL3 UBE4A MECP2 STXBP1 MED25 CHD2 KANSL1 UFSP2 NDST1 ALKBH8 FGF12 ARHGEF9 CACNA1A ZC3H14 SLC2A1 HNMT TNIK TECR CARS2 AKT3 FRRS1L MED23 KCNA1 SLC6A1 PIGP PRPS1 TRAPPC9 MAPK10 SYT1 PDSS2 IQSEC1 CHRNA2 LMAN2L CLIP1 CLTCL1 GNAO1 GABRB3 CLN5 RNF13 SLC12A2 KCTD7 KDM5B ST3GAL5 PIGC CLCN4 CRBN METTL23 CDKL5 SLC35A2 PRSS12 CASK ACTL6B ARX LRPPRC PI4KA P4HTM MBOAT7 CPLX1 ST3GAL3 SLC45A1 PIK3CA DOCK7 CABP4 DCPS MED13L SIK1 PCDH19 PPP3CA PLPBP DPYD LONP1 SYNGAP1 KCNQ2 GABRA1 DNM1 SLC25A10 NCDN SCN9A LGI1 B3GALNT2 SPATA5 TTC5 FBXO31 KCNQ3 NEXMIF RSRC1 NPRL2 ATP1A2 TUSC3 ALDH7A1 CC2D1A PRRT2 CRADD KCNMA1 NEMF SLC25A22 IQSEC2 EZR CHRNB2 HP_EEG_WITH_FOCAL_SPIKES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_FOCAL_SPIKES CHRNA2 DEPDC5 CHRNA4 SRPX2 CRH LONP1 CLN5 AKT3 KCNT1 CLCN4 PIK3CA PIGG GRIN2A CABP4 PDHA1 ARHGEF9 ADGRG1 SYT1 PDSS2 COQ2 CHRNB2 PI4KA HP_EEG_WITH_FOCAL_SHARP_SLOW_WAVES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_FOCAL_SHARP_SLOW_WAVES CUX2 DNM1 CHD2 SCN1A MAPK10 CACNA1A GABRB3 AKT3 SPATA5 PIK3CA HP_EEG_WITH_FOCAL_SHARP_WAVES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_FOCAL_SHARP_WAVES CACNA1A SCN1A PRRT2 PSAT1 PDHA1 SRPX2 GRIN2A LONP1 TBC1D24 SYT1 ATP1A2 HP_EEG_WITH_FOCAL_SPIKE_WAVES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_FOCAL_SPIKE_WAVES SLC2A1 CPLX1 NEXMIF SATB1 GRIN2A TBC1D24 DAG1 SYNGAP1 FRRS1L CHD2 AP2M1 SLC6A1 SRPX2 SCN1A IQSEC2 GABRG2 HP_EEG_WITH_GENERALIZED_SHARP_SLOW_WAVES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_GENERALIZED_SHARP_SLOW_WAVES ALDH7A1 CACNA1A SCN1A PLPBP PRRT2 ALDH4A1 PDHA1 LONP1 SLC13A5 PIGT ATP1A2 HP_EEG_WITH_ABNORMALLY_SLOW_FREQUENCIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_ABNORMALLY_SLOW_FREQUENCIES PIGY PSEN1 AP3B2 GABRA2 DNM1 TRAK1 PLP1 DHDDS CLN5 RNF13 HCN1 CACNA1A AP2M1 SCN8A STXBP1 KCNB1 SLC13A5 SLC1A2 LRPPRC WWOX SQSTM1 YWHAG MAPT CYP27A1 P4HTM SYNGAP1 C9orf72 FGF12 SYNJ1 CDK19 OCA2 TMEM106B PLPBP CLN8 GRIN2D ARV1 PPP3CA GABRA5 TREM2 CHD2 CYFIP2 DPAGT1 KCNA2 UBE3A GABRG2 NUS1 FGF13 CACNA1B PARS2 GRN LMNB1 GRIN2A DALRD3 CHMP2B MECP2 SLC2A1 CDKL5 AARS1 SZT2 NEXMIF CNKSR2 ATP6V1A NECAP1 ACTL6B CLTC SCN3A KPTN VCP ALDH7A1 SLC6A1 GABRB2 SCN1A UBA5 CELF2 NTRK2 EEF1A2 HP_EEG_WITH_CONTINUOUS_SLOW_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_CONTINUOUS_SLOW_ACTIVITY MAPT TMEM106B PSEN1 CHMP2B GRN C9orf72 TREM2 VCP SQSTM1 HP_ABNORMAL_SHAPE_OF_THE_OCCIPUT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SHAPE_OF_THE_OCCIPUT TENT5A CYP2R1 SHH KDELR2 PEX6 KIF11 CNOT3 UBE3B WDR73 PPP1R21 PIGA LEMD3 SIX3 LFNG RPS23 FLNB PEX11B RIPPLY2 KIF7 MYCN KAT6B FGFR1 DPM1 KRAS PEX1 MAN1B1 ALX4 METTL23 NID1 STIL ZIC1 GDF11 GLI2 INPPL1 MCTP2 PEX26 OTUD6B ATP7A ERF KCNQ1OT1 NOTCH2 OCA2 ITCH PEX14 ZIC2 FLNA MAN2B1 CNOT1 MESP2 SLC35A1 MBTPS2 VDR PEX3 CDKN1C TOR1A PEX10 UBE3A SLC34A3 IFT52 CTSK PEX12 TWIST1 HES7 IFT43 PTCH1 PSAT1 CCDC22 PLAGL1 TUBB3 TFAP2B WASHC5 ATP6V1B2 RELN TBC1D24 TMEM70 SNRPN MOGS DLL3 SATB2 PEX16 PHGDH KCNQ1 CYP27B1 PEX5 SETD1B RNU4ATAC EHMT1 SMG9 AMER1 PEX2 PIGN DISP1 RALGAPA1 PEX13 FGF8 HRAS SH3PXD2B MED12 TBX6 HK1 WDR19 SOX6 GLI3 ADSL HYMAI IGF2 TAF1 NRAS PEX19 B3GALT6 IFT122 OCRL WDR35 IFT81 CHUK HP_ABNORMAL_SHAPE_OF_THE_FRONTAL_REGION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SHAPE_OF_THE_FRONTAL_REGION HMGA2 B3GALT6 SIX3 HBB SATB2 BUB1B GNB2 ERF RAB39B KRAS FBN1 SUFU INTS1 FGFR1 RTL1 DDX59 ALX4 IKBKG EBP CHD1 GPR101 TCTN3 MMP23B RERE OBSL1 MBTPS2 CRIPT PPP2R5D FGFR3 DHCR24 ZIC2 SMOC1 P4HB ANKRD11 CTNS SPEN PTHLH FZD2 ZEB2 CDKN1C ATIC CTSK AIP KIAA0753 FLNB EFNB1 TWIST1 ADK POLE B9D2 CSGALNACT1 NXN EDARADD RFWD3 ALDH18A1 DYNC2H1 COL11A1 PYCR1 ERCC4 MAP2K2 MSX2 MIR140 CWC27 KATNIP EDAR CTBP1 PRKCZ PLAG1 CYP27B1 MAN1B1 SHH SIK3 NFIX DVL1 RSPRY1 PPP1CB HNRNPU ROR2 MEG3 UNC80 TRIP11 MED12 PEX7 DVL3 STAT3 MTOR PHEX GJA5 PTCH1 ATP6V0A2 PEX5 KIAA0586 PDHA1 CCDC8 DISP1 FH CDH2 SETBP1 YWHAE ZIC1 MMP2 GNS MPDZ POR FGF8 ANTXR1 FLNA PTEN OCRL NAA10 RECQL4 EPB41L1 CYP2R1 BICRA SPECC1L NTNG2 B3GAT3 POLR1D BUB1 PREPL GYPC GMNN COX5A EPB41 PDE4D PLA2G6 BRCA2 PURA FGFR2 ORC1 KIF7 PTCH2 WDR35 FUCA1 CPLX1 NSD1 DENND5A TBCE RUNX2 CUL7 STAG2 ITCH KIDINS220 FMR1 NONO FANCA BRAF SLC34A3 IFT52 UBE4B TBCD CRPPA POLR1B IDUA STIL CCDC22 KAT6A TGFB1 MAGEL2 PIK3CD SLC39A13 GLI2 SOX5 NPR2 TBC1D24 TCIRG1 FANCB TBX4 MED27 HSPG2 SLC26A2 CREBBP TBX15 CPLANE1 POU1F1 MAP2K1 AMER1 DDR2 VDR KDM1A MTHFR WDR19 TONSL D2HGDH LEMD3 EXTL3 SKI MED13L FANCF POLR1C LETM1 PAM16 SEC24D SOX2 B3GLCT CBL EIF5A CEP57 EP300 RPS6KA3 WASHC5 BRCA1 PDPN KYNU RAD51C NSD2 BUB3 BRWD3 KCNJ1 CHRNA7 GRIN1 POLR3A KNSTRN RAI1 COG4 DEAF1 GLI3 TCF12 PIK3CA OFD1 RNPC3 FLII SLC3A1 INPPL1 LRP4 TRIO GLB1 DYNC2I1 ACOX1 IFT43 SMC3 TCOF1 SLX4 ALX1 CHST3 NELFA IFT80 KPTN COL1A1 WNT5A MID1 SNX14 MBD5 NFKBIA ATAD3A DYNC2I2 VANGL2 EMC10 LBR GATAD2B ARID2 TCF20 ARID1B SEC23A CLCN7 MADD ATP6V1B2 ZNF148 XRCC2 EDA HDAC4 SPRTN SON DLX3 PDE6D ALDH6A1 TOGARAM1 HRAS HK1 LUZP1 INTU SMARCA2 SPOP GJA1 HDAC6 IFT122 GNE TMEM216 FANCC TRIM37 HBA2 APC FAM149B1 UBE2T NRAS MOCS1 IGF2 PIGL SPTB GK DICER1 ALG9 RAD51 SMARCD1 DDX6 PIGG MAD2L2 C12orf57 SOST LIFR MEN1 AMACR PAK1 TTC37 FANCE NID1 PCGF2 GPC6 OPHN1 CKAP2L MEGF8 NLRP3 PRMT7 FANCI SIX2 CAMKMT NCAPG2 MAN2B1 KCNAB2 GJA8 MITF MOCS2 DSE FANCL IFT140 AGO2 TRPS1 LRP5 ALPL IQSEC2 SIX6 MTX2 HSD17B4 CHD3 UGP2 ACAN COL1A2 NALCN PPM1B CASZ1 PIK3R1 FBN2 PRDM16 SNX10 HBA1 ACP5 HERC1 SALL4 CSPP1 NEU1 FLI1 PAFAH1B1 BMPR1A LARS1 PTDSS1 SPTA1 TRIP13 FANCG HOXD13 COX4I1 EDA2R BRIP1 FANCD2 SMG8 GABRD DLK1 PIK3R2 FANCM PALB2 BGN PIGN HP_SHORT_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_FACE SUMO1 LRP6 IRF6 MSX1 POLR1C GRHL3 TCOF1 POLR1D UBB WNT10B EDA WNT10A TGFA AXIN2 EDARADD RUNX2 FGFR1 PAX9 POLR1B HP_PROMINENT_FOREHEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_FOREHEAD MYT1L KMT2E CCDC32 KIF11 CNOT3 BRWD3 IARS2 KCNJ1 KIF7 TRIP11 GPC4 NTNG1 EDARADD SERPINH1 WDFY3 STAT5B RTL1 PPP2R5D UBR7 KDM1A SMOC1 B3GALT6 CASK BRAF NAA10 MAN2B1 LHX4 CHST3 CHD2 DLK1 SLC12A2 LRPPRC CDKN1C SKIV2L ATIC WNT5A MID1 EXT2 ZSWIM6 FLNB FAM111A TRAF6 SUMF1 APC2 GRIA4 COG4 PRKD1 POU1F1 CDKL5 PTH1R LBR ACTL6B SLC6A1 NFIX KCNMA1 ALDH18A1 PYCR1 NALCN LRP4 PITX2 FARSB ERF CDC42 HECW2 HUWE1 LARP7 INPP5E PROP1 OBSL1 HS2ST1 SATB2 BPTF PLAG1 PUS7 PTPN23 SON FLNA IGF2 P4HTM PKDCC LHX3 NANS HESX1 PPP1CB SPECC1L GPAA1 SUZ12 MED12 STAT3 SH3PXD2B PEPD RLIM GNE DPYD ACTL6A PEX5 CREBBP MAPK8IP3 SYNGAP1 HPDL PDGFRB ZBTB18 FUCA1 SVBP TTC37 TAF1 B3GLCT PIGL MAB21L2 DPH1 BCORL1 CDH2 FAM149B1 KDM4B FOXP1 NEXMIF PSMD12 GNS PRMT7 WAC AGO2 ARNT2 SCN1A POC1A ADNP PALS1 JARID2 USP9X ZPR1 B3GAT3 SCYL2 AP2M1 ZMIZ1 DVL1 PLA2G6 ITGA3 PURA FOXC1 RMRP WASF1 AP1S2 DYNC1H1 COL2A1 UNC80 ZNF711 OPHN1 CKAP2L MYH3 SHOC2 NSD1 FAM50A TBCE RYR1 TTC7A UPF3B HMGA2 KIDINS220 TRIP12 ABCC9 EP300 ASXL3 HERC1 CCND2 TANC2 SETD2 MED27 H19 SLC2A1 IFT140 ASXL1 KPTN SETBP1 KDF1 TCF20 NPR2 PIGK TRRAP KDM6B ADAT3 PMM2 PIK3R1 MTOR KAT8 CHD3 DPYSL5 DPF2 DHCR24 DDX6 VPS33A DVL3 MED13 EBF3 SMG9 ARX AMER1 MEG3 NRAS NTNG2 IGF1 PUF60 RALA ERMARD SP7 TAPT1 COL27A1 TONSL DOCK3 D2HGDH FMR1 MED13L SKI CPT2 GLE1 FBN1 VPS35L ZNF292 PAM16 RPS6KA3 EDAR PTDSS1 MBTPS1 HTT PRKDC HRAS TNRC6B CEP57 FZD2 TRMT1 EFEMP2 TRAPPC4 SATB1 MN1 FBXW11 SNX14 IFT81 RAF1 IL2RA MADD HP_APLASIA_HYPOPLASIA_OF_THE_EYELID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_EYELID CCNQ SF3B4 FRAS1 ZPR1 GRIP1 FREM1 CDH11 POLR1D RNASEH2C TWIST2 TWIST1 ESCO2 RIPK4 RNASEH2B RNASEH2A FREM2 KRAS TREX1 FLI1 DHODH POLR1C TXNL4A POLR1B TCOF1 PHGDH ALX1 IFIH1 SAMHD1 KCTD1 EIF5A EDNRA FGFR1 CHD7 ADAR SEMA3E SLC25A24 ADNP HP_HORIZONTAL_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HORIZONTAL_EYEBROW ADAM17 KCNAB2 SPEN DEAF1 CDK19 FOXP2 RERE PRKCZ EGFR HSPG2 INTS1 UBE4B KCNK4 EBF3 CASZ1 PRDM16 DDB1 MMP23B CNOT2 RALA RALGAPA1 GABRD PDPN MED13L TRAPPC9 SKI LUZP1 SYT1 HP_BROAD_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_EYEBROW TRMT1 CHD1 RERE EIF5A DDB1 BPTF SON NEPRO SLC35C1 POLA1 ZEB2 MAPK1 POLR3A HERC1 MAF PYCR2 MAN1B1 SPATA5 SPTBN1 SIN3A HP_PROMINENT_EYELASHES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_EYELASHES SMARCB1 RNU4ATAC KDM6A SMARCD1 LMNB1 SOX4 ARID2 DPF2 SMARCC2 ARID1B SMARCE1 KMT2D SOX11 ARID1A SMARCA4 HP_MICROTIA_THIRD_DEGREE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROTIA_THIRD_DEGREE ORC1 CDT1 CDC6 FANCB GMNN ORC4 TWIST2 TCTN3 ORC6 CDC45 HP_UNDERDEVELOPED_TRAGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNDERDEVELOPED_TRAGUS KCTD1 NUP188 GLI2 KAT6A EFTUD2 HP_ANISOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANISOCYTOSIS CDAN1 NHLRC2 RHAG GATA1 UMPS TRNT1 HBB G6PD CDIN1 GLRX5 RHCE UROS KIF23 TMPRSS6 PKLR RHD CASK RPS14 HP_RECURRENT_MYCOBACTERIAL_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_MYCOBACTERIAL_INFECTIONS SPEF2 DNAI2 CCDC39 CFAP221 DNAH1 ODAD2 RSPH4A DNAAF6 GATA2 DNAAF2 ODAD3 CYBB DNAH9 RSPH9 MCIDAS ZAP70 DNAH11 DNAAF3 IL12RB1 CCDC40 CCDC103 ISG15 DNAAF4 IFNGR1 TTC12 IFNGR2 DNAAF1 DCLRE1C GAS8 DNAJB13 CFAP300 RSPH1 DNAAF5 CCNO DRC1 CCDC65 FOXJ1 OFD1 SPAG1 ZMYND10 TYK2 DNAI1 NME8 NEK10 ODAD1 DNAH5 ODAD4 RPGR RSPH3 DNAAF11 CFAP298 LRRC56 HYDIN DNAL1 STAT1 STK36 GAS2L2 HP_VASCULAR_SKIN_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VASCULAR_SKIN_ABNORMALITY PPARG ATP7A C1R COL1A1 HDAC8 B3GALT6 IRF5 CFH ENG WNT10A HLA-DPA1 F7 LMNA HPGD MT-ND6 FECH TNFRSF13B GJB6 ANGPT1 TERT AGXT EBP FOS CAV1 SH2B3 MMP23B NTRK1 EPHB2 MBTPS2 CBL COL1A2 F13A1 STN1 GFI1B FAS RPS6KA3 TNXB ANTXR2 FIP1L1 SLC20A2 IL7 PRKACG TGFB2 SERPINF2 CAVIN1 HPS1 NHP2 ERCC2 AGPAT2 NDUFS2 SPEN MT-TS2 NLRP3 CTSA MAP2K1 SMAD3 AGA LRP1 KRT1 ZNF469 LMAN1 GJB2 IFIH1 SAMHD1 COG4 SBDS SLURP1 TREX1 ITGB3 SOX18 MT-ATP6 BCOR LBR ALDH18A1 ACVRL1 SLFN14 HEY2 PYCR1 KLLN CHST14 CLEC7A MYLK ERCC3 SREBF1 NF1 GUCY1A1 GATA1 SDHC AKT1 LARP7 F8 AIP RERE PRKCZ CYLD MANBA MT-CO3 PARN PORCN MPL SIK3 ADA2 DKC1 PLEC UVSSA STXBP1 TGM5 FZD4 LIG4 CCM2 MTAP JAK2 WAS STAT3 GNAS PEPD PROC KRT5 HS3ST6 DPM1 TNFSF12 TINF2 ERCC4 TGM1 COL3A1 TET2 ADGRE2 GSN CTLA4 CDKN1B BMPR2 SLC35A1 XPA ETV6 MT-TW XPR1 POLH NAGA TMC8 KRT10 AEBP1 NDP ATP6V1A COL5A2 FKBP14 SRSF2 ADAR ITGA2 POLA1 CCN2 PML NFKB1 JAM2 C1S SERPINE1 ATM RNF168 RAD21 TALDO1 SMAD4 CASP10 SEC24C RECQL4 ERCC5 MT-CYB IL12A GP1BA FLNA NFKB2 LCP2 COMT COL5A1 F5 JMJD1C SLC2A10 GJB4 KDSR MYH11 LORICRIN PGAP2 FUCA1 PDGFB ANTXR1 GBA SLC29A3 TRAF3IP2 VWF IL17RC NIPBL NSDHL LMX1B HFE PRF1 ETHE1 RIN2 GLUL CTSB SCN9A RUNX1 SOS1 ZBTB16 NSUN2 ACTA2 ATR PIK3CA LYST MT-CO1 NOD2 UBE4B PIGT BRD4 CSTA HOXA11 SDHD CFHR3 F12 PLOD1 MEFV HIRA SLC39A13 PSMB8 DNAJC30 ERCC6 MYOF BSCL2 KIT TBX1 ARL6IP6 MT-ND4 ODC1 KRT14 ALOXE3 GP1BB AP1S1 HSPG2 DLL4 PLCG2 IKBKG GNA14 CLCN7 NBEAL2 FERMT1 PEX6 ZMPSTE24 SMC1A TGFBR2 KRT2 STAT5B RASA1 FANCE MYORG LRP5 GP9 SULT2B1 IL36RN STAG1 MT-TF MS4A1 PRKAR1A ATP6V1E1 NOTCH1 FBN1 MT-TQ USP18 XRCC4 ARVCF GDF2 CTC1 XPC SLC27A4 ATP2C1 COX7B RREB1 APOE CDH23 RAC2 RAB27A BLOC1S5 NFIA CALR MT-ND4L HPS6 PDPN F10 MYH9 ASXL1 CFHR1 ITGA2B TENT5A ZNF408 ENPP1 PDSS1 ATRX ARHGAP31 MT-TS1 MYD88 RBPJ PIGL EOGT ALDH3A2 POLR3A PTEN POLE PCNA SLC37A4 SPINK5 SLC25A24 FOXE3 C2 C4A ICOS CD81 DSG4 ELMO2 PDGFRB OCLN TERC KNG1 FOXP3 PIGV FANCA GLA TGFB3 PGM3 SMC3 SDHB FANCC ABL1 NLRP12 ATP6V0A2 STXBP2 GLB1 SERPING1 NABP1 ELOVL4 NDUFB11 PTPN11 DNASE1L3 GPR35 TNFSF11 MCFD2 BLOC1S3 CD109 TFR2 RARA PLG MRE11 HPS4 PIGY PLAU MASP1 SNX10 FTO TRPM4 SYK TGFBR1 DDB2 NFIX MAPK1 CBS ARID1B BLM MT-TH TMC6 CD19 GJB3 ALPK1 STING1 USP8 ANKRD26 TCF4 PPP1R15B FRG1 STX11 NLRC4 LOX CARMIL2 TNFRSF1B DOCK6 IFNG NOP10 TBL1XR1 TNFSF15 SLC39A4 RNASEH2B ABCC6 STIM1 ELN LUZP1 SETX DSE ADAM17 ATP7B HLA-DPB1 FASLG IL17RA BRAF PIGW SEMA4D DTNBP1 MFAP5 HBA2 SCN11A IKZF1 NPM1 IL17F COL7A1 EPHB4 USF3 NEU1 SCARB2 NUMA1 FCGR2C IRF2BP2 MT-ND1 PGAP3 LEMD2 KRT9 KDELR2 GNPTAB PRTN3 ALOX12B RNASEH2C MT-TL1 FYB1 WRN HLA-B HCCS ITGA3 RASGRP1 DSP HLA-DRB1 TNPO3 KRT16 CDSN COG8 GGCX GJA1 KIAA0319L UNC13D FLT4 PDE11A DAXX RNASEH2A ARX MT-ND2 POLD1 MT-CO2 CR2 KCNAB2 BMP2 DDR2 IL12RB1 P2RY12 PROS1 EGFR SAMD9 FANCD2 CIB1 FERMT3 CPN1 PRKACA CCR6 MT-ND5 GATA2 F13B PDCD10 HPS3 ORAI1 SKI SF3B4 PRDM5 SMAD2 F2 HLA-DQB1 PRKG1 CTNNB1 ADAMTS2 PIGO MMEL1 WIPF1 KRT83 UFD1 SEC23B PERP SCN10A RTEL1 CASZ1 CD28 GP6 PRDM16 XPNPEP2 MST1 MAT2A HBA1 HPS5 WRAP53 ACP5 DHCR7 KCNQ2 VPS53 TNFRSF13C USB1 RHOH DDX11 PTPN22 AKT3 PRKCD TSPAN12 AQP5 RNF213 TCIRG1 ARMC5 GNAQ POU2AF1 PTDSS1 ANAPC1 KRIT1 TBXA2R LIPN MVK PLOD3 PSMG2 RNF113A SPIB GABRD TNFRSF1A KRAS TRPV3 HP_ABNORMALITY_OF_THE_URINARY_SYSTEM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_URINARY_SYSTEM_PHYSIOLOGY SARDH ATP7A SDHD DYNC2LI1 CEP290 NRAS SATB1 LEMD3 ENG PRODH SLC7A9 NUP107 ADCY10 AGK CLCN5 BBS1 PTPN22 MT-ND6 TREX1 MUC1 STX16 MMADHC AGXT CDKN2B WDR19 KANSL1 GNAS LAMB3 DCDC2 MT-TK KCNJ11 TP53 ITGA6 CYP11B2 NTRK1 TK2 ERCC8 AVPR2 SERPINF2 AQP2 KAT5 IER3IP1 HPS1 GALNT3 FAS MT-TS2 PUS3 ABCC6 AGA NEXMIF LMAN1 CHRNA3 MT-ND1 PC TGM1 EMP2 KLF6 HGD CFI SLITRK6 MT-ND4 DNAJB11 ABCC8 BCOR INS SLC2A9 KANK2 BCS1L ACVRL1 ERCC4 TNFRSF11A CHST14 HMGCL SLC34A1 PTPRO MIR140 TMEM70 MT-ND2 NGLY1 SDHC LRIG2 PHKG2 PSTPIP1 FIG4 MCCC2 BBS9 APRT KCNJ2 ASL ACADS DMD NPHP1 NDUFAF3 CYP27B1 MANBA MAGI2 FBP1 PIGA MMAB SGCB SUCLG1 PDX1 LMX1B SHH TMEM67 PEX5 ATP6V0A4 SCAPER CPOX RET CUBN ALDH5A1 VAC14 NAGA ZNF699 STAR ATPAF2 MME ARSB WAS SMAD4 LAMC2 PHEX DYNC2I1 TRPC6 EXT1 ITGB4 PAX2 MAX SLC7A7 OSGEP NCF1 CYB561 MRAP CRB2 THBD ACAD9 TGFB1 PCCA MT-TE INF2 GUSB HPSE2 PPOX UROD PIK3C2A ITGA8 ERAP1 MT-TW AMMECR1 ANLN WT1 COL4A3 PRPS1 OTC POU6F2 CLCNKA DNAJC19 GNS HLA-DRB1 SMARCA2 PKD2 SLC6A20 NDUFS8 BCL7B MTRR PML GCDH SLC5A1 MDH2 AMN HNF4A CPS1 SNAP29 SLC25A20 CYP11A1 PREPL PIGB SOCS1 MT-ND5 CPT2 IL23R FLT1 NEU1 HLCS BRCA2 SUOX COG1 NPHS1 OCRL FBXL4 PLG FAH SCNN1A LDHA FUCA1 CDKN1B GP1BA MUTYH ELN SLC25A1 GCK ANO5 IL17RC SERAC1 TANGO2 EIF4H NUP133 LPIN1 HRAS CEL NPHS2 HPRT1 MPC1 PCK1 TRIP13 JAG1 ITGB3 CASR SLC34A3 FUZ FGFR1 PIGT SIX5 CA2 SCARB2 IDUA MEFV KIF1B NOS3 BRD4 BUD23 SUGCT HADH FN1 VANGL1 DGUOK CISD2 LPIN2 GLI2 DACT1 CLDN3 PMM2 CC2D2A NPHP3 IQCB1 NUP205 FANCB BLVRA TIMM50 IL10 XYLT2 GATM NUP93 KRAS TBC1D8B SLC30A9 PHKA1 HNF1B IDH2 CCN2 DZIP1L POLR3GL EHMT1 SDCCAG8 CCND1 GCM2 HBB CDC73 BTK FAN1 SOX9 NDUFS4 GP1BB UMOD DISP1 HNF1A ETFB PLCE1 SLC4A4 SLC25A4 CFAP418 D2HGDH MT-TF PDSS2 PRKAR1A NDUFS3 XYLT1 ACE FH CDKN2C SLCO1B1 PLOD2 ISL1 SLC36A2 MAP3K1 ATP1A1 UNC45A CDKN1A MTHFR PET100 HFE CAV1 G6PC1 BRCA1 TMEM270 IL6 TRIM32 SLC6A19 SLC5A2 CD320 OPA3 GAA CEP19 OGDH SUCLA2 KYNU PNP NF1 RFXAP RAD51C CFHR1 ITGA2B CEP120 GATA4 C3 NLRP3 OXCT1 MYD88 UBAC2 KCNJ1 RYR1 STAT2 DSTYK SLC37A4 PEX1 STX3 PYGM KCNJ18 COA8 SLC25A13 CLDN19 IFT80 BBS12 PIEZO1 ALOXE3 VHL GUCY2D OPLAH OCLN GLIS2 APOL1 CYP11B1 APOE C4A ADA2 IDS NOTCH2 YAP1 PGK1 STAT4 NDUFS1 GLA GLYCTK FTCD ZIC2 IFT43 KRT8 HADHA TMEM216 SLX4 MT-TT SLC46A1 TPRKB TMEM127 FLVCR1 MCFD2 GBA CFHR5 L2HGDH FOXC2 RARA BBS5 GCSH NUP85 BBS7 SCO1 EFEMP2 METTL27 CBS SIX3 MAFB TNXB PEPD VAMP7 TLR4 MAGED2 DNASE1L3 SLC16A1 AUH DLD ALDH4A1 WDR73 PHOX2B FARSB MEN1 TSC1 INPP5E RAG1 ACP5 SLC34A2 IL2RB MARS1 FLAD1 HMBS AHI1 MT-CO1 NADK2 POLG UMPS GSN XPA RAG2 CFTR EN1 MVK B2M TAFAZZIN SPRY2 MMP1 C1QB ZNF592 DPYD PYGL TRPS1 RFC2 ELP1 XPC LAGE3 KCNJ5 DNASE1 IKZF1 SLC4A1 UBE2T CASP10 SLC3A1 NDUFV1 IL17F DDB2 CRKL IFT172 RAD51 TNFRSF11B GLUD1 NUMA1 NDUFAF1 MYO5B FGA INPPL1 IFT140 PGM3 HADHB ALDOB CFHR2 VPS33B ENPP1 MYO1E PRTN3 SLC2A2 CLCNKB MMAA MT-TL1 SLC35C1 TCN2 HLA-B ITGA3 RASGRP1 CLIP2 SMARCAL1 THOC6 GCLC HOGA1 FANCE COQ2 RMRP KCNE5 ABHD11 PKD1 BSND MMACHC GSS PFKM NSD1 CAD ALOX12B LMBRD1 NNT FANCI MT-CO2 CAMKMT MT-TN TBX18 MAPKBP1 RRM2B MBTPS2 PHYH F8 STX1A TTC21B CORIN HMGA2 CREBBP WDPCP BTNL2 PAFAH1B1 MOCS2 F2 SAMD9 PEX7 UQCC2 TMEM260 AASS SCO2 GALK1 FANCL CCR6 STAT3 MAPK1 ALPL KRT18 FGF23 OFD1 ERCC6 SPP1 EYA1 GNA11 CR2 COQ6 MCEE RPGRIP1L NDUFB10 KLF11 HACE1 NDUFAF8 SLC25A15 FXYD2 MT-CO3 CTNS ATAD3A TP63 ALMS1 GNPTAB BICC1 APPL1 MT-ND3 IL12A WIPF1 DYNC2H1 VPS33A NDUFS6 COL4A1 MAF IRF1 ERCC3 XPNPEP3 SMC3 ERBB2 UROS BCKDHA REST PTH1R FGF8 CSPP1 PCCB AP2S1 SMC1A SGSH GTF2IRD2 PEX19 ALDOA CLTRN SDHA NEK8 TTC8 DYRK1A GRHPR ATRX LZTFL1 ADA HAL TMEM231 CHD4 COL7A1 BLM VPS37D FASLG NDUFB8 ARHGAP24 SURF1 PCBD1 SERPINA1 ACSF3 MMUT KCTD1 KCNJ10 FANCD2 RMND1 ABCA12 DAAM2 MDM2 MCCC1 HOXA13 HPD GTF2I HDAC8 CFH NT5C3A HLA-DPA1 SLC12A1 ATP7B LMNA ARL6 FOXI1 MYCN NDUFAF6 TAT UROC1 CD151 KIRREL1 PKHD1 CCR1 ZAP70 TOP2A NR5A1 CLPB GEMIN4 NPHP4 FIP1L1 SPTBN1 DCLRE1C ALG1 GALNS MAN2B1 P4HA2 SGPL1 TRIM28 DMP1 INSR SDHB WASF1 SUMF1 TMEM237 SLC52A1 SOX18 COL4A4 ISCU TBL2 SHANK3 CPT1A DMRT3 RFWD3 COPA EP300 CIITA ALK ZNF423 CLEC7A BBS10 GABRA3 WDR4 IL7R ARG1 TRAIP BCKDHB MIA3 SLC26A4 SLC35A2 MOCOS SAA1 ACADVL TSC2 COX16 PAX6 CEP83 TRAF3IP1 OAT CACNA1S ADNP FCGR2A WWOX FOXRED1 YY1AP1 MLYCD GATA3 IFIH1 AGTR1 KIAA0586 ACADM SLC26A1 GNAS-AS1 COL4A5 COL3A1 DNAJC30 TP53RK DNMT3A SALL1 SRCAP NDUFB9 LCAT SLC9A3R1 BCR REN BBIP1 ITGA2 PRKCD HIC1 CNNM2 ARHGDIA RAD21 CCNQ CYP2R1 STK11 PET117 SIX1 DHDDS CA5A TMEM138 EIF2AK3 ARL3 LMNB2 F5 SREBF1 NDUFAF4 GPHN MYL9 ACTN4 ERCC5 DHTKD1 DBH PHKA2 EGF NDUFAF2 G6PD NDUFV2 TRAF3IP2 SCNN1B SEC61A1 ZFPM2 NIPBL GYS2 IRF5 PRF1 ETHE1 SLC35A1 MYH11 CD2AP FOXP3 PBX1 ZBTB16 COQ8B FANCA SHPK SLC22A12 FBLN5 IRAK1 NOD2 SETD2 FMO3 CASK SULT2B1 NDUFAF5 STIL CRPPA APOA1 CFHR3 PLOD1 BNC2 PIK3CD SCNN1G ETFDH TBC1D24 ABCD4 NDUFS2 LRP2 HSD11B2 MICOS13 INVS ABCC2 HSD17B10 NBN EHHADH NDUFA1 LIN28B LIPN STAT5B GP9 NFS1 ALG9 NUBPL EPAS1 FANCF SLC52A2 DMGDH MT-TQ TRPV6 CYP4F22 MSN NR0B1 CTLA4 SARS2 SLC25A11 MYOCD PDP1 LIG4 ANKFY1 PRDX1 SDHAF2 BBS4 BBS2 PAH F10 FGFR2 BTD HMOX1 CTH TENT5A KHK AVIL MT-TS1 NOS1AP VIPAS39 RPIA GTF2IRD1 NUP37 ATP6V1B1 KNSTRN SDR9C7 SPINK5 ATP5F1D COX14 NDUFS7 C1QBP FARS2 IVD KLRC4 ASS1 NUP160 HGSNAT IFT27 LAMB2 GLB1 LYZ MKS1 ALAD STXBP2 FKRP HIBCH HELLPAR NABP1 TRNT1 SLC16A12 LDHD GALE GPR35 SNX14 APC2 CD109 NAGLU LMNB1 C1QC GATA6 ETFA RASA1 ACSL4 RFX5 GLDC GANAB SRY RFXANK MT-TH IFT74 PIK3CA PGAM2 ATP6V1B2 AGT NSMCE2 KARS1 XRCC2 SLC25A21 SLCO1B3 TCF4 CYBC1 BLK STX11 C1QA GAPVD1 PKDCC SLC12A3 PAX4 GATA1 MC2R TBL1XR1 YWHAE DLST CHD7 COL4A6 ANKS6 IL12A-AS1 TTR CLDN10 CYP21A2 TKT GALT DYNC2I2 IFT122 COG6 CD46 HLA-DPB1 FANCC ERCC2 IL17RA NDUFA6 SEMA4D COL2A1 MOCS1 DDOST LAMA3 GDF2 HSD3B2 GK SLC6A18 MRPS2 CHUK MKKS IRF2BP2 PLVAP MAD2L2 FCGR2B KDELR2 ACAD8 AMT TTC37 HCFC1 UNC13D SH2B1 SLC17A5 LMO1 WDR35 CLDN16 MT-ATP6 NIPAL4 FAM20A CYP24A1 CD59 TXNRD2 APC LAT2 HSPA9 NDUFB11 NEUROD1 SON NDUFA11 JAK1 STS STOX1 AGGF1 ATP5F1E MLXIPL CHRM3 WFS1 CD81 SLC1A1 HTRA2 STAT1 NPM1 IL2RG LIMK1 SLC19A2 MTX2 BAZ1B CEP164 POLR3A ASPA SLC25A19 DGKE PPM1B TMEM126B XDH ADAMTS13 CDK4 MST1 LHX1 MNX1 TIMMDC1 H19 KCNJ16 FKBP6 MYH9 CLDN4 DIS3L2 DHX37 FANCG PNPLA6 MT-TV DCXR CFB ITPR3 GPC3 CDKN1C ACAT1 NDUFB3 BRIP1 DBT FANCM PALB2 EPG5 MTR HP_ABNORMALITY_OF_URINE_CALCIUM_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_URINE_CALCIUM_CONCENTRATION TENT5A CDC73 KDELR2 SLC34A1 GTF2I SLC2A2 KCNJ1 SLC12A1 ATP7B GTF2IRD1 ADCY10 GNA11 CLCN5 CLIP2 NDUFAF6 AMMECR1 ABHD11 OCRL CDKN2B CDKN1B CLDN16 PIGT ELN CYP24A1 BSND EIF4H GCM2 CASR LAT2 MBTPS2 STX1A BTNL2 INSR SLC22A12 SLC34A3 MLXIPL BUD23 SLC2A9 METTL27 KCNJ5 TBL2 FGF23 MAGED2 CLDN19 LIMK1 CLDN3 BAZ1B MEN1 FXYD2 HNF1B EHHADH SLC12A3 ATP6V0A4 FAM20A CLCNKB FCGR2A PTH1R AP2S1 GTF2IRD2 CFTR CLDN10 HLA-DRB1 NCF1 CDKN2C RFC2 FKBP6 TGFB1 CLDN4 CDKN1A DNAJC30 GATM VPS37D PHEX PIK3C2A CLCNKA TMEM270 KCNJ10 BCL7B CDKN1C ALPL HP_ABNORMALITY_OF_URINE_CATECHOLAMINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_URINE_CATECHOLAMINE_CONCENTRATION KIF1B EPAS1 SDHA PHOX2B SDHD MAX FH SDHC HACE1 SDHB VHL TMEM127 DNMT3A SLC25A11 RET MYCN DBH LMO1 SDHAF2 ALK LIN28B DLST TOP2A NF1 MDH2 HP_ABNORMALITY_OF_HINDBRAIN_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_HINDBRAIN_MORPHOLOGY ERCC2 MME ATR LARGE1 KIAA0586 PIGA BUB1B CIZ1 PDYN CEP290 PDHB ADGRG1 FLI1 GRN NDE1 DPM1 VPS51 RNASEH2A STT3A GJB6 TUBGCP6 ATXN3 ADGRV1 SASS6 PNPLA6 SLC9A6 NDP MT-TK TCTN3 RERE GRID2 DNMT1 RTEL1 MBTPS2 TRAPPC4 SPTAN1 NUP37 CTNNA2 ERCC8 SLC39A14 TERT CEP41 RHOBTB2 KAT5 IER3IP1 FGF14 DAG1 CENPF AIMP2 NKX6-2 MSTO1 QARS1 ATXN10 MAST1 MRM2 IFRD1 ZEB2 GJB2 FGF12 ASPM IFT140 PIK3CA VLDLR ATXN7 MDH2 COG8 ITPR1 POLG2 SC5D POU1F1 CARS2 INPP5E KCNA1 JAM3 KATNB1 MTHFS BCS1L TUBB3 SPG11 DYNC2H1 TDP1 PDGFRB ANO10 TWNK SLC25A46 TCTN1 SDHC NGLY1 PROKR2 TBP PIGN FIG4 CTBP1 NOTCH3 MKS1 CDKL5 NPHP1 KCNMA1 TDGF1 SHH TMEM67 SIK3 IQCB1 NDUFA8 STXBP1 VPS41 PLP1 ALDH5A1 VAC14 RFWD3 ZSWIM6 GPC3 POMGNT1 DOCK7 SYNE1 AHCY EHMT1 MAPK8IP3 AFG3L2 FKRP SIK1 AP1S2 OSGEP NCF1 TMEM237 FA2H ELOVL4 B9D1 MT-TE ZBTB11 PUM1 RARS2 KIF1A MYOD1 TSEN2 DPH1 RRM2B SETBP1 SOX3 ZIC1 COG5 RFC1 UBE2A PRRX1 BCL7B LCA5 LMNB1 B4GAT1 TBL1XR1 CCDC88C DMXL2 BICRA ARID2 PEX10 PPP1R21 TUBB2B BUB1 AHI1 TK2 L2HGDH PPP2R2B PLA2G6 DCHS1 COASY MACF1 COG1 FGFR2 POMT1 CDC40 POR PGAP1 MPLKIP FBXL4 PLG PTCH1 CDC45 CYP27A1 WDR35 HSD17B4 PRNP SIL1 WDR81 KIAA1109 ELN SLC25A1 POMK ARID1B SACS CHP1 CWF19L1 KIF1C SERAC1 EIF4H COL4A1 LMX1B B3GALNT2 PEX2 RAB18 PACS1 HRAS ZNF335 HLA-DQB1 SLC33A1 SRPX2 COQ9 NONO B9D2 CRPPA NEK1 FUZ PPP2R1A TINF2 FGFR1 CNTNAP1 SIX3 PARN DNM1L GMPPB TULP1 WDR45 SCARB2 BRD4 TARS1 BUD23 GOT2 SDHD PI4KA VANGL1 HTT ATG7 OPA1 HHAT VRK1 TPP1 GLI2 B4GALNT1 DACT1 GRM1 CLDN3 HNRNPH2 SLC39A8 ATN1 CYFIP2 PMM2 CC2D2A NPHP3 TMEM216 FAR1 ODC1 NRAS FOXH1 MED27 LYST PHGDH TBCD EXOSC3 POLR1C SCN2A SMG9 LAMA2 ADPRS CAMTA1 SMPD1 FKTN TXN2 CLPB DPYSL5 DISP1 CASK ERMARD MAB21L1 PEX16 GLI3 ATP6V1E1 UBA5 PIK3R5 SUFU RAPSN ARHGEF2 AHDC1 CLN8 ATP13A2 AP4M1 TSEN54 TOE1 SYT14 INTS8 GBA2 POMT2 ATP6V1A VPS11 PDE6D LAMA1 TMEM270 SLC20A2 RXYLT1 NFIA SMARCB1 KMT2C NMNAT1 NDUFS4 RPL10 TRAPPC11 SMPD4 ZMIZ1 REPS1 GPC4 GAS1 BUB3 RNASEH1 POLR3A PTEN USP45 ARMC9 STAT2 FOXC1 PCNA ACD SPTBN2 SLC25A24 CCDC32 RAB3GAP2 SIGMAR1 GRM7 OCLN PIGQ EMC1 KCNQ1OT1 RTTN ADSL KDM1A GAN NUP214 APC2 AKT1 PTF1A ZIC2 BAP1 STAG2 LHX4 ATP6V0A2 NELFA TBCK SPATA7 IFT80 RAC1 LRAT BMP4 CPLANE1 DHDDS MARS2 PRKCG RRAS2 MYORG IMPDH1 CEP104 NDUFA6 FTO CTSF MYO7A RNF113A DLL1 METTL27 CEP120 NFIX ACY1 CYB5R3 TRAPPC9 CKAP2L WDR73 ERLIN1 RELN SH3TC2 TTC19 MUSK FLNA CACNA1G PPP1R12A KCTD7 ROGDI MAP3K7 ERCC3 VPS4A TRAPPC6B C19orf12 EPG5 SON ACTL6B NAGA SCYL1 CACNA1A TUBGCP4 NADK2 POLG ATP2B3 DOCK6 ERCC6 PIGS HESX1 CRB1 TUBB GPSM2 KCNC3 ATXN8OS MAG TFAP2A CDC42 EN1 SRD5A3 AGTPBP1 TRAF7 WNT1 ZNF592 SLC25A19 RFC2 ATXN2 IGF2 TAF1 EBP CYB5A ALG9 PNKP BCORL1 ALG3 TKFC USF3 ATP1A2 MFSD8 RBM8A SQSTM1 SLC25A22 PIGG FAM126A ARID1A AARS2 COG7 STUB1 RAB11B TMEM107 ZPR1 DHX37 TBC1D24 KCNJ13 NODAL PRUNE1 SLC18A3 FMR1 CLIP2 MT-ATP6 CSPP1 ABHD11 NID1 DKC1 NF2 ATG5 OPHN1 CPT2 DOK7 CDH23 MYH3 PIGT NSD1 DCC DARS2 PCDH15 NEUROD2 SMARCE1 COL3A1 FOXRED1 BCAP31 VARS1 UFM1 STX1A SETX CCDC22 CREBBP COQ2 SLC35A2 DNMT3A SMARCA4 EXOC2 ACO2 KATNIP TCTN2 ASXL1 WARS2 RBBP8 SETD2 B4GALT1 OFD1 ALG6 HYLS1 MGME1 RPGRIP1L SDHB VWA3B SLC1A3 COA7 POLR3B OTX2 ATAD3A SLC9A1 TGM6 PAX2 FRMD4A RNU4ATAC ATXN1 MAF SMC3 ALS2 SOD1 FGF8 TAPT1 SMC1A GTF2IRD2 MED12 TGFBR2 PPIL1 PDGFB SKI BRAT1 GNAQ CTSD RPGRIP1 TMEM231 CHD4 PIEZO2 DNAJC3 VPS37D BRF1 PRKDC TMEM138 AP3B2 DHFR OXR1 DLG4 MCOLN1 KCNJ10 USH1G CCDC88A SNX14 TBCE SPG7 FUS TREX1 CUL4B FAT4 SEPSECS MRE11 EXOSC1 NDUFS1 HMGA2 GTF2I HDAC8 ZNHIT3 ARNT2 ERF FBN1 TBC1D2B VHL INTS1 TECPR2 PDHA1 RAB3GAP1 KRAS AP4E1 MAN1B1 RPE65 EXOSC2 NOP56 C2CD3 AP4S1 SH2B1 FCSK GPX4 RUBCN ATP6AP2 USH2A DHX30 MFF ALG1 MAN2B1 NAXE ZFYVE26 ALDH18A1 WDR37 KIAA0753 SUMF1 ARL13B AIPL1 PTH1R ERCC1 COQ5 PIGP TBL2 SHANK3 TRAPPC12 EP300 ZNF423 CBY1 ARL3 KLLN CWC27 CLN5 OTUD5 PDHX RNF216 CARS1 MT-TL1 TOP3A WDR4 CYP7B1 SMO LHX3 PDZD7 PPP1CB RDH12 PSAT1 POMGNT2 DPM2 BEAN1 FAT2 ELOVL5 EPRS1 CRAT SMARCC2 NFKB2 DNAJC30 MORC2 TP53RK KIF7 SALL1 CEP55 NARS2 DISC1 CHD7 DAB1 OPA3 GTF2H5 TXNDC15 EVC2 RAD21 SPECC1L FANCI CLCN7 TRIM8 YIF1B GPHN LRRC32 MEF2C UBTF NUBPL COX20 DYNC1H1 SAMD9L GPAA1 PMPCA TMEM240 CPLX1 GRIA2 NOVA2 EOMES DENND5A ASNS NOTCH2 CSF1R LIPT1 HEPACAM VPS13B TSEN34 CDKN1C SOX2 DPAGT1 HERC1 DHCR7 JAM2 PORCN MAP2K2 STIL KANSL1 PIBF1 EVC PIGK GJB1 MDH1 AP4B1 KCND3 TRPC3 MYMK PIGU MICOS13 NALCN GALC TUBB4A KCNQ1 CRX GTF2E2 GPKOW XRCC4 YME1L1 FRRS1L PEX6 DNAJC5 RNU12 RBM10 GFM2 MTHFR USP9X ALX4 TONSL LEMD3 IRF2BPL TBC1D20 WAC ZNF292 TSEN15 USP18 LETM1 KIDINS220 NFASC UCHL1 TRMT1 INPP5K SPG21 RPS6KA3 WASHC5 TMX2 PRRT2 MPL SOX11 CILK1 NSD2 GAD1 RORA THOC2 NDUFA9 FLVCR2 EXOSC9 LAMB1 GTF2IRD1 TGIF1 DKK1 MVK FANCB WWOX UBAP1 FARS2 NUP88 GDF6 FOXF1 FGFR3 TRMT10A DYNC2I1 BCOR L1CAM SCN1B ARG1 TERC XRCC1 POLR3K DYNC2I2 VANGL2 SPART COQ4 CDK5 DPF2 TMCO1 NIPBL CIT SEMA3E GJA1 KIF14 ATP6V1B2 SCN1A WDR26 GNAO1 PROP1 RNF13 CHMP1A TTBK2 GRIA3 TWIST1 ABAT KCNC1 NUP133 MFSD2A USH1C NDUFA1 PCLO PPP1R15B COL18A1 TOGARAM1 HK1 SMARCA2 HDAC6 PLAA ATCAY AFF3 COG6 LONP1 APTX CDON FAM149B1 PHEX LNPK STT3B RD3 POLA1 COQ8A SMARCD1 SLC25A4 GTPBP2 POGZ WHRN SLC5A6 SLC44A1 PCYT1A SOX4 SEMA6B BTD PAFAH1B1 PITRM1 MYO5A EEF2 ROBO3 ARSI EXOSC8 PCGF2 ESPN PMPCB FTL CNP CLN3 NCAPG2 LAT2 IBA57 MINPP1 IFT172 ASXL3 DEGS1 MLXIPL PLD3 ATP1A3 TGFBR1 SDHA BCL11A LIMK1 TRRAP BAZ1B ABHD12 FDXR CACNA2D2 SLC52A3 ATP8A2 ARX EBF3 SEC23B CENPE ATP5F1A CEP57 TUBA1A EXOC7 CCND1 PTRH2 VPS53 ALG12 PLK4 BICD2 ERCC5 VPS35L THG1L CIB2 FKBP6 CLDN4 GDAP2 TRIP13 COX4I1 MT-CYB CEP164 GEMIN5 LAGE3 CP GUCY2D HP_PROMINENT_DIGIT_PAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_DIGIT_PAD PALS1 JARID2 MYT1L TBL1XR1 KMT2E CCDC32 HUWE1 KAT8 DPYSL5 HS2ST1 RPS23 BPTF ZMIZ1 KMT2D PUS7 DDX6 PTPN23 CREBBP MED13 UBR7 BCOR WASF1 NTNG1 KANSL1 PKDCC NTNG2 PAK3 KDM6A CTCF WDFY3 MED12 WAC EMC1 DOCK3 MED12L RLIM ACTL6A ZNF292 MAPK8IP3 TRIP12 HPDL MAP1B SLC12A2 SVBP TANC2 HTT MED27 BCORL1 GRIA4 KDM4B FOXP1 TNRC6B NAA10 PSMD12 TRMT1 EP300 EZH2 CNOT3 TRAPPC4 ACTL6B KCNMA1 SATB1 FBXW11 AGO2 ARID1B TCF20 HNRNPH2 MADD HP_LONG_PALM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_PALM SLC2A10 UBE3B SMS UPF3B POR HP_BROAD_THUMB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_THUMB PALS1 JARID2 NXN USP9X MYT1L KMT2E BICRA CCDC32 GPC4 RAB23 B3GAT3 KCNH1 SMOC1 ZMIZ1 DVL1 FGFR2 SNIP1 GLI3 WASF1 ROR2 HOXD13 NTNG1 EXOSC2 GNAS GATA4 MEGF8 INPPL1 WDFY3 OTUD6B ACAN FLNA XYLT1 GJA8 TRIP12 CREBBP CHST3 NSUN2 SLC12A2 SVBP RLIM RBM8A TANC2 FGFR1 FLNB MED27 TBX5 NOG SUMF1 GRIA4 BPTF PRKD1 MED12 ALX4 EZH2 EED CNOT3 ACTL6B KCNMA1 EP300 DACT1 TCF20 PYCR2 MEIS2 GDF5 HUWE1 KAT8 DPYSL5 HS2ST1 SUZ12 SATB2 SALL1 MAP3K7 PACS1 BMP2 PUS7 DDX6 PTPN23 LIG4 MED13 UBR7 SMO NTNG2 MSX2 GPC3 SIAH1 ADNP DVL3 FGFR3 DOCK3 BMPR1A GJA5 ACTL6A MAPK8IP3 WNT5A HPDL NSD1 PUF60 FGF9 HTT BCORL1 PTEN KDM4B TWIST1 TNRC6B PSMD12 TRMT1 TRAPPC4 SATB1 FBXW11 AGO2 G6PC3 COL2A1 MADD HP_SLENDER_TOE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLENDER_TOE VPS13B TRMT10A SMS PPP1R15B MTM1 B4GALT7 HP_ABNORMALITY_OF_LONG_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LONG_BONE_MORPHOLOGY ATR ATP7A RNU4ATAC LMBR1 DYNC2LI1 TRPS1 CCDC32 NF1 LEMD3 TENT5A HERC2 GLI1 MMP13 TRPV4 CLCN5 TRIP11 TGFB1 B3GALT6 FANCB DDRGK1 WDR19 RAB23 GNAS PLEKHM1 GORAB HARS1 OBSL1 WDFY3 SMAD4 MRPS28 ARSL CHEK2 SMOC1 ANKH MATN3 TBX4 TNFRSF11B PEX3 PUS3 STX16 ZEB2 RBM8A PEX12 FLNB FAM111A NOG TSHB COG4 PITX1 MMP9 POU1F1 EZH2 KCNA1 CSGALNACT1 NXN KCNMA1 TUBB3 DYNC2H1 RPL13 ERCC4 MAP2K2 TNFRSF11A CRTAP MIR140 CANT1 HUWE1 FIG4 COL11A1 MKS1 CDKL5 GLI3 CYP27B1 OTUD6B DYNC2I2 PARN SUCLG1 NDN FAT4 LOXL3 SIK3 SALL4 ARCN1 RSPRY1 FGFR2 GHR RMRP NANS GPC4 VAC14 ZNF699 RFWD3 CTCF ROR2 MEG3 GPC3 CDT1 MTAP MED12 ARSB PEX7 LRP4 PHEX DYNC2I1 SIK1 GJA5 EXT1 NCF1 MEGF8 POP1 B9D1 FDFT1 POLE BMPR1B KIF15 TCTN3 GUSB CYP3A4 COL2A1 GDF5 PDGFRB COL9A3 PEX19 AMMECR1 SETBP1 DNMT3A FBN1 SNRPN COL9A1 CFAP410 DHODH COG5 KCNJ2 FGF9 FLNA BCL7B PTEN CHN1 JARID2 RECQL4 DMXL2 BICRA IYD B3GAT3 SMAD6 RAB3GAP2 DONSON PDE4D FGFR3 PTPN11 ZMIZ1 NEU1 DVL1 ATRX BRCA2 C12orf57 POR CDC45 WDR35 SIL1 SRCAP ORC4 NSD1 GSC ELN KIF22 ADAMTS2 NADSYN1 HEPHL1 ACAN EIF4H FN1 NKX3-2 POLR1A B9D2 NEK1 JAG1 SVBP SMARCA2 AFF4 SLC34A3 TANC2 COL11A2 MED27 TBX5 CA2 TMEM38B TPM2 BPTF COL9A2 IDUA COL10A1 BUD23 ALX4 HOXA11 RUNX2 KAT6A OSTM1 SNORD116-1 LPIN2 SLC39A13 DACT1 CLDN3 NPR2 CEP290 PTDSS1 SETD5 IQCB1 TMEM216 COL1A2 RBPJ TBCD KIF7 TBX15 MAP2K1 CC2D2A TCF4 CLCN7 ZMPSTE24 AMER1 DDR2 TMEM165 PWRN1 ADAMTS10 VDR SATB2 KCNN3 MKRN3 DOCK3 PWAR1 EXTL3 QRICH1 RPL26 P3H1 FGF10 PLOD2 KCNH1 PEX10 UNC45A TBXAS1 SEC24D TPO VPS13B LRP5 LMNA BRCA1 TMEM270 SLC29A3 GLE1 SATB1 G6PC3 LTBP3 IFT140 NMNAT1 RAD51C CEP120 TRAPPC2 SLCO2A1 POLR3A PEX1 ESCO2 SDCCAG8 ATRIP IFT80 BCOR COMP SBDS PEX26 SERPINH1 PIGQ TCIRG1 COL1A1 ITCH GAN IDS SLX4 LHX4 ATP6V0A2 TBCE CHST3 GNPTG PRKACA SQSTM1 TNFSF11 PRKAR1A IFT43 CYP2R1 PTH1R ERCC8 EED TMEM67 METTL27 NFIX PEPD PEX16 ZNF141 CDC6 PIGL MAP3K7 LMOD3 SHOX MUSK RAG1 HS2ST1 ACP5 CWC27 FGFR1 TRAIP ZBTB20 PEX5 PUS7 SON TP53 CBS NOTCH3 P4HTM SLC10A7 DUOX2 BHLHA9 PIGS HESX1 MYF5 SH3PXD2B RAG2 TGDS GJA1 THRB RLIM DPYD ACTL6A DCHS1 HOXD13 DNAJC21 RFC2 MAPK8IP3 WNT5A RB1 TRIM37 VCP UBE2T EBP SLC26A2 CRKL RAD51 IFT122 ALG3 ALG12 NOTCH2 PSMD12 PEX13 ORC6 INPPL1 SLC25A22 TMEM237 PAPSS2 SOST TMEM107 TMEM251 ZPR1 SLC2A2 PRKACB CLIP2 SMARCAL1 EVC GGCX SCN2A FANCE KCNE5 ABHD11 SCUBE3 CKAP2L PIGT LETM1 NEUROD2 IFIH1 FANCI CENPT MBTPS2 PHYH STX1A GJA8 ACVR1 TTC21B TRIP12 CREBBP CCDC8 NEPRO SAMD9 SNRPB PCYT1A FANCL BGN BPNT2 CHSY1 MAPK1 ALPL FGF23 PYCR2 HYLS1 XYLT1 CLTCL1 ABCC9 DPYSL5 CTNS SUZ12 GNPTAB IFT172 IHH PACS1 BMP2 DDX6 ALG9 MED13 VPS33A KDELR2 ENPP1 RIPK4 FBN2 IFT57 WRAP53 ANO5 ACTA1 CSPP1 TAPT1 GTF2IRD2 HSPG2 SKI LZTFL1 ADA HDAC6 ANAPC1 VPS37D BRF1 TWIST1 PCNT PLOD3 GPC6 HBB RET FANCD2 SF3B4 WNT7A SHH KMT2E HOXA13 PEX6 GTF2I SLC35D1 IARS2 CFL2 KCNJ8 AGPS KRAS RTL1 TERT RBBP8 EXOSC2 TRPV6 GPR101 MCTP2 MET GPX4 SGMS2 SOX9 SPTBN1 DCLRE1C EFL1 RAB33B NHP2 FAM20C TCTN1 PTHLH GALNS MAN2B1 FZD2 DMP1 PYCR1 ZNF469 KIAA0753 EFNB1 OCRL SUMF1 AIP GRIA4 MGAT2 PRKD1 CENPE MGP AIFM1 GNPAT ACTL6B SFRP4 PIGP TBL2 EP300 NPHP4 MEIS2 IL7R LARP7 MIA3 COG1 SLC35A2 PTPN23 CASK UBR7 HHAT PORCN MAFB B2M SMO LHX3 RINT1 DKC1 TRAF3IP1 ADNP DVL3 EXT2 RPGRIP1L FGFRL1 MPZ CPLX1 LBR KIAA0586 TINF2 CASR HPDL PUF60 DNAJC30 GMNN SALL1 BCORL1 KDM4B PEX2 TREX1 HDAC4 BCR MMP2 ANTXR1 AGO2 NEK8 TXNDC15 EVC2 IFT52 POC1A CCNQ DYM USP9X LMX1B TRIM8 EIF2AK3 SLC5A5 UFSP2 ORC1 WASF1 TSHR CSF1R NIPBL KLHL41 CUL7 NSDHL ZBTB16 PNKP ATP6V1B2 NSUN2 FANCA BRAF DHCR7 ESR1 SRP54 PLK4 CNOT3 KANSL1 PIK3CD SCARF2 TCF20 HNRNPA1 MYSM1 KAT8 PIGU INVS CCN6 NEB IDH2 B4GALT7 MSX2 SIAH1 RBM10 TONSL FANCF ERCC1 HPGD CTSK PEX14 PMP22 PAM16 CTC1 B3GLCT SRY KNSTRN LIG4 INPP5K ERCC6 P4HB TRMT1 RPS6KA3 TRAPPC4 FBXW11 STXBP1 MADD FIBP MYT1L LONP1 TMEM231 GTF2IRD1 IDH1 TYROBP OFD1 NTNG1 GATA4 TBX3 SLC2A10 TERC NSD2 EXOC6B GLB1 SCN1B SLC12A2 CDKN1C SCN9A ADAMTSL2 PDE3A RASA1 ACSL4 SNX10 GATAD2B HS6ST1 CHD7 LIFR RSPO2 NSMCE2 WDR26 GNAO1 XRCC2 PROP1 TREM2 PLCB3 NOP10 INTU MAGEL2 AFF3 FANCC APC NPM1 HINT1 PRMT7 MED25 NPHP3 MAD2L2 PALS1 CTBP1 PEX11B SEMA3E ZIC3 SNIP1 SLC17A5 RPGRIP1 NDUFAF6 LAT2 HSPA9 TG CEP152 PISD KIF1A EIF4A3 RETREG1 CYP19A1 HNRNPA2B1 IL2RG LIMK1 MTX2 PRDM5 BAZ1B CEP164 EHHADH UGP2 ARX RTEL1 PIK3C2A SPART PIK3R1 DUOXA2 NTNG2 CENPJ USB1 FLI1 BMPR1A RPS19 VPS35L ANTXR2 FKBP6 CLDN4 NPAP1 NPHP1 HTT FKBP10 FANCG MLXIPL TNRC6B TCTN2 BRIP1 DLK1 IFT81 SNORD115-1 FANCM PALB2 WNK1 HP_BICORONAL_SYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BICORONAL_SYNOSTOSIS SCUBE3 ZIC1 RECQL4 FGFR2 FGFR1 MSX2 HP_MULTIPLE_SUTURE_CRANIOSYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_SUTURE_CRANIOSYNOSTOSIS TBX1 SEC24C ERF RREB1 ARVCF COMT HIRA FGFR2 JMJD1C GP1BB UFD1 HP_ANTERIOR_PLAGIOCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTERIOR_PLAGIOCEPHALY MIR140 TBC1D24 ERF ATP6V1B2 PIGO HP_ABNORMALITY_OF_FONTANELLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FONTANELLES ATR ATP7A TENT5A FOXE1 PEX6 PIGA POLR3A KIF7 HPGD MYCN BMPER PEX1 RTL1 SLC25A24 NKX2-5 MVK PEX13 ROR2 NPHP3 ZIC1 HOXD13 PEX10 ALG9 PAX8 INPPL1 PEX26 PEX3 KCNQ1OT1 PPP2R5D RPS6KA3 PEX14 SPTBN1 FAM20C SMC3 BANF1 ACTB LHX4 ATP6V0A2 TBCE COL1A1 CTSK PEX12 ACTG1 TSHB COG4 LMOD3 POU1F1 CYP2R1 MASP1 ETFA PLAGL1 GNPAT ALDH18A1 SEC23A PYCR1 CRTAP CHST14 AGT MIR140 PEX11B FLNA COL11A1 PROP1 FGFR2 TWIST1 PEX16 PEX5 FAT4 AMER1 SLC26A4 DVL1 LHX3 DUOX2 HESX1 ZSWIM6 MEG3 MED12 SOX9 SH3PXD2B MTOR RBM10 GLIS3 ZMPSTE24 INTU DSE CYP27B1 GJA1 NEB DCHS1 AGTR1 HYMAI ALG1 WNT5A USP7 IGF2 PIGQ PEX19 SETBP1 ATP6V1A REN MMP2 POR ARX CHUK TALDO1 RECQL4 KLHL41 KDELR2 FAM111A IYD COX5A FIG4 SLC5A5 ORC1 EBP TSHR CDC45 UBR1 ANTXR1 RUNX2 NLRP3 SIX2 VARS1 HRAS MBTPS2 PEX2 VDR NSUN2 NEPRO CDKN1C ASXL3 TG SHPK SLC34A3 FGFR3 ACTA1 MSX2 ANKRD11 PIEZO2 ETFDH PTDSS1 HSD17B4 GPX4 LRP2 COL1A2 HNF1B H19 ASPA ADAMTS2 KCNQ1 CREBBP LIG4 RNU4ATAC SMG9 MAF DUOXA2 LHX1 DPYSL5 ETFB ALG8 NKX2-1 GLI3 ATP6V1E1 SKI P3H1 ERCC1 ACE LMNA ATRX VPS35L CTSD PAM16 B3GLCT KLHL40 TPO NDE1 COL11A2 NSMCE3 EP300 DLK1 ALPL HP_ABNORMALITY_OF_CRANIAL_SUTURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CRANIAL_SUTURES ERCC2 ATP7A B3GALT6 LEMD3 TENT5A FGFR2 ERF FBN1 HPGD ALX4 RTL1 HNRNPK RBBP8 RAB23 KANSL1 DDB1 MMP23B SH2B1 ABCC8 RPS6KA3 P4HB FGFR1 NAA10 BANF1 SPEN MAN2B1 SMAD3 MAP1B DMP1 ZEB2 CTSK FAM111A EFNB1 TSHB CENPE POU1F1 NUP188 AIFM1 ERCC1 ALDH18A1 MSX2 CRTAP CHST14 KCNJ11 MIR140 CWC27 RAC3 OTUD5 AKT1 FIG4 COL11A1 NOTCH3 RERE PRKCZ SLC35A2 CYP27B1 HSPG2 FAT4 SMO COLEC10 LHX3 RSPRY1 STXBP1 PPP1CB VAC14 ZNF699 HNRNPU CTCF MEG3 CDT1 MED12 STAT3 FGFR3 GLIS3 TWIST1 ADSL COL1A2 HUWE1 MEGF8 AGTR1 ASXL1 GMNN DPH1 PPP2R1A SETBP1 ZIC1 ATP6V1A REN MMP2 PPIB POR FLNA GTF2H5 SETD1A ENPP1 SEC24C CYP2R1 PURA BICRA SPECC1L PPP1R21 IYD B3GAT3 COMT DONSON INTU SLC5A5 PSAT1 JMJD1C TLK2 MPLKIP PTCH1 CDC45 ORC4 ANTXR1 GCK SLC39A8 RUNX2 NOTCH2 LMX1B NSUN2 CDKN1C AFF4 HERC1 SLC34A3 IFT52 SETD2 UBE4B PDX1 TARS1 MTX2 FREM1 KAT6A PLK4 HIRA SCARF2 AASS ADAMTSL1 TBX1 TBC1D24 PTDSS1 TCIRG1 KRT14 H19 KCNQ1 BCL11B CREBBP SMG9 GTF2E2 TBCK AMER1 KDM5B TGFBR2 B4GALT7 PIGO CEP120 RBM10 ERMARD ZNF462 WDR19 EXTL3 SKI ATP6V1E1 P3H1 ACE LMNA IGF2 ZNF292 PLOD2 ARVCF PAM16 SEC24D B3GLCT TPO COL1A1 RREB1 LRP5 CEP57 EP300 EXOC8 CDK8 PDPN CDH11 AHDC1 CCNQ POLR3A PEX1 SLC25A24 ESCO2 GLI3 ROR2 SC5D ATRIP SLC2A10 KCNQ1OT1 RTTN IFITM5 PEX14 IFT43 SMC3 ACTB MYH3 LHX4 ATP6V0A2 TBCE CHST3 POLA1 SCN9A TNFSF11 ADARB1 BMP4 ACTG1 APC2 GORAB MASP1 SNX10 RNF113A ARID2 TGFBR1 NFIX MAPK1 RECQL4 CDC6 CLCN7 ATP6V1B2 AGT IRX5 PROP1 SMAD6 MAP3K7 TRAIP SEC23A MAF PCNT SON TMCO1 COLEC11 PTEN CYP26B1 DUOX2 ERCC6 ERCC3 HESX1 ATR TOGARAM1 PPP3CA ADAMTS3 SH3PXD2B ZMPSTE24 LUZP1 DSE YY1 KDM4B IFT122 DCHS1 TANC2 USP7 ORC1 FLNB PHEX SMARCD1 DDX6 IL11RA LEMD2 KDELR2 GNPTAB SCUBE3 GPC6 WDR35 TCF12 PIGT NSD1 BMP1 KRT5 NLRP3 THRA SIX2 CCBE1 MBTPS2 KCNAB2 VDR ASXL3 TG CEP152 KIF1A IFT140 RETREG1 AGO2 BPNT2 KPTN ALPL IL6ST ANKRD11 FAM20C MMP14 HSD17B4 MESD DPF2 ASPA ADAMTS2 SLC12A6 ALG9 UFD1 LIG4 CASZ1 PRDM16 DUOXA2 INS CENPJ SP7 TAPT1 GP1BB PEX19 ERCC5 RPS19 RNF125 CHD4 FKBP10 ORC6 FOXG1 PDGFRB GABRD DLK1 WNK1 KRAS HP_METOPIC_SYNOSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METOPIC_SYNOSTOSIS OTUD5 WDR35 FREM1 DDB1 ASXL3 CDK8 HERC1 HNRNPK SON SIX2 GLI3 PTCH1 HP_FACIAL_SHAPE_DEFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_SHAPE_DEFORMATION ITGA8 CEP55 NPHP3 ACE MTX2 AGTR1 REN MAN2B1 HIBCH PKHD1 FGF20 UBA1 AGT HP_FRONTAL_HIRSUTISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRONTAL_HIRSUTISM TASP1 DLK1 CKAP2L RTL1 FLNA MEG3 HP_ABNORMALITY_OF_MOUTH_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_MOUTH_SIZE KMT2E CCDC32 GTF2I PIGA SATB2 GNB2 KCNJ8 FAT4 SH3PXD2B KCNH1 GATAD2B AMMECR1 RTL1 AP4E1 APC DDB1 MMP23B SF3B4 BPTF RSPO2 WDFY3 SMAD4 AP4S1 STRADA DCPS KAT5 PLCB4 FAM20C CENPF ANKRD11 TXNL4A SPEN GALNS AGA ATIC CDK13 SIN3A STAG1 MYH3 GRIA4 MGAT2 PPM1D NXN ACTL6B SLC6A1 FREM2 KCNMA1 TBL2 GPC4 ALDH18A1 CHST14 SNRPN FBXO11 HUWE1 LARP7 PIGN COL11A1 COG1 MKS1 RERE PRKCZ ACTB SLC12A2 PTPN23 SMS PTEN TUBB HSPG2 UBR7 KCNK4 NALCN SSR4 TMEM67 WDR4 MADD STXBP1 ZNF699 CTCF ROR2 ZSWIM6 MEG3 GPC3 IDUA CDT1 MED12 MAPK8IP3 AP4M1 MTOR PQBP1 TWIST2 LMNA SOX6 MED12L MED13 OSGEP ATP6V0A2 NCF1 RAI1 HPDL SMARCC2 COL2A1 COL3A1 DNAJC30 GMNN MYLPF SALL1 BCORL1 NRXN1 KDM4B SRCAP SETBP1 FBN1 YWHAE BCR NEXMIF PSMD12 GNS CHD7 UBE2A FLNA FGFR2 PRRX1 BCL7B MCM5 AGO2 AUTS2 TASP1 SETD1A SCN1A SEPTIN9 ARID1A ADNP TALDO1 LTBP3 RECQL4 JARID2 SPEG SEC24C ARID2 UBE3B B3GAT3 TMEM70 POLR1D SCYL2 COMT UBE3A PIGB DONSON MAPRE2 ZMIZ1 ATRX JMJD1C DCHS1 ORC1 TLK2 PGAP1 ACTG1 WASF1 PTCH1 CDC45 CHSY1 SET ORC4 GSC TRMT5 ELN ARID1B DLK1 AKT3 NOTCH2 RYR1 EIF4H OCA2 LMX1B ZBTB16 PACS1 SOS1 PACS2 ATP6V1B2 NONO NSUN2 SVBP SMARCA2 TANC2 MED27 UBE4B POLR1B CANT1 BUD23 KAT6A CNOT3 NEB HIRA PIEZO2 DACT1 TCF20 CLDN3 HNRNPH2 PMM2 TBX1 PTDSS1 KAT8 IGF1R AP4B1 HIVEP2 PIGU RPL10 SYNGAP1 TBX4 DHCR24 CREBBP ERLIN2 CAMTA1 SMARCA4 TCF4 ZMPSTE24 MECP2 B4GALT7 DPYSL5 KATNB1 KCNN3 DOCK3 EXTL3 QRICH1 ADAT3 MED13L POLR1C PIK3R2 CCND2 TBC1D20 CHRNG ARVCF TAF6 ATP10A KLHL15 COL11A2 RREB1 CEP57 TRMT1 EP300 RPS6KA3 TMEM270 TRAPPC4 NFIA SATB1 FBXW11 SMARCB1 PDPN RAF1 SOX11 PAX3 HS2ST1 NMNAT1 MYT1L PSPH WDR73 GTF2IRD1 POLR3A POR SLC25A24 MYBPC1 PIK3CA BBS7 NTNG1 TRIP12 GNAI3 TRMT10A NFIX RTTN TRIO ADSL RAB3GAP1 EDN1 TCOF1 TNNT3 CHST3 CHD2 ATAD3A MBD5 DPF2 WNT3 TP63 TMCO1 METTL27 BRPF1 MAPK1 SEMA3E SEC23A MDM2 CUL4B ZNF148 MUSK KARS1 GLB1 CDC42 IRX5 HECW2 PPP1R15B CDC6 TWIST1 PHACTR1 ZBTB20 PUS7 MAF MMP1 PIGF ADAMTS3 LUZP1 DSE GJA1 HDAC6 RLIM AFF3 ACTL6A RFC2 TTN B3GLCT PIGL CRKL ALG9 SMARCD1 FLCN ORC6 TNNI2 POGZ COG7 LEMD2 PALS1 ADAMTSL2 SOX4 AP2M1 ITGA3 TTC37 CLIP2 SNIP1 ABHD11 SH2B1 AP1S2 PCGF2 SMARCE1 WAC POLD1 TPM2 CCBE1 CRLF1 LAT2 CENPT STX1A KCNAB2 SON ASXL3 SLC2A1 IFT140 MAP2K1 EIF4A3 BPNT2 RIPK4 DPYD LIMK1 SKI TRRAP KDM6B MTX2 BCL11B PIGY BAZ1B ABCC9 RNF2 OTX2 CLCF1 BMP2 DDX6 UFD1 LIG4 KDM3B CASZ1 PRDM16 BIN1 NTNG2 DHCR7 RALGAPA1 AKT1 SP7 GTF2IRD2 GP1BB PAFAH1B1 OFD1 BMPR1A DDX11 CD96 FKBP6 COL7A1 CDK19 INSR CLDN4 HTT VPS37D MLXIPL IARS2 TNRC6B RNF113A TRIP4 GABRD ZMYND11 GBA HP_ABNORMALITY_OF_MOUTH_SHAPE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_MOUTH_SHAPE NXN NSD2 EXT2 RNU4ATAC SIM1 ANKLE2 HMGA2 RTL1 HDAC8 CNOT3 PIGA CDH11 BUB1B ZNHIT3 DIS3L2 CCDC47 KCNH1 PIGL HERC2 POLR3A PUS7 EIF2S3 KIF7 RAI1 DEAF1 INTS1 PHF21A HNRNPK MEF2C GPC4 ROR2 SC5D KANSL1 FLII SLC6A8 ESS2 TRIP12 PIGV TRMT10A ABCC8 STRADA RPS6KA3 ADAM22 BRAF HOXB1 SMC3 TELO2 RAB18 NELFA SNRPN TBX1 ZEB2 NEXMIF WNT5A RAC1 SIN3A WDR37 ZSWIM6 UBE2A AKT1 PRKAR1A MGAT2 MBD5 EEF1A2 PIGY PLXND1 SHMT2 CHAMP1 PARS2 BRPF1 NIPBL NFIX TCF20 DGCR8 TRAPPC9 ATP6V1B2 KCNJ11 MIR140 FBXO11 ERF CDC42 INPP5E MAGEL2 PPP2R5D CTBP1 PPP1R15B ATP1A2 HDAC4 GRIA3 KCNMA1 ZBTB20 SON HSPG2 AHI1 COLEC11 NDN FAT4 CCDC174 MAFB WDR4 PIGF COLEC10 DVL1 PCLO PPP1CB PAK3 DVL3 MTOR FGFRL1 MED13L NONO CPLX1 MED12L KDM4B KAT8 AFF3 OCA2 KCNJ6 DPYD DCHS1 PIGW KIF15 MSL3 IL1RAPL1 HS6ST2 MYLPF PIGQ IGF2 ATP1A3 PPP2R1A DLK1 FAM149B1 GK FOXP1 TET3 OGT WAC OCRL TASP1 GTPBP2 SMARCD1 POGZ PIGG PGAP3 RAD21 TFAP2B ZPR1 COLQ DHX37 NTNG2 LIFR RPS23 ATRX SOX11 SLC9A6 EBP ERCC2 PGAP2 UNC80 POMT2 SRCAP NOVA2 MYH3 PIGT DGCR2 LETM1 DENND5A GCK NOTCH2 NCAPG2 PURA PACS1 DST STAC3 VPS13B PACS2 RLIM AFF4 SLC35A2 MASP1 CSNK2B MLXIPL PDX1 BRD4 ASXL3 STAT3 MED12 DGCR6 AP1S2 AGO2 SMC1A KAT6A NKAP SNORD116-1 IQSEC2 TWIST2 SOX5 ATN1 TBC1D24 SETD5 PIGU NALCN LMBR1 PIGO ELN EBF3 TCF4 EHMT1 PDE4D LAMA2 PIK3R1 INS PWRN1 MEG3 NRAS KIF1A GFM2 KDM1A HACE1 ZC4H2 TMEM237 MKRN3 LEMD3 PWAR1 EXTL3 SLC1A3 CACNA1A CLTC CHRNG KCNK9 NPAP1 HRAS LAMB2 PLOD3 REV3L FZD2 CCDC88A ALX4 TUBB4A SNORD115-1 GBA PIGN HP_ABNORMALITY_OF_UPPER_LIP_VERMILLION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_UPPER_LIP_VERMILLION RNU4ATAC TRPS1 RTL1 ZNHIT3 GNB2 HERC2 GATAD2B DPM1 VPS51 AMMECR1 DDX59 MAN1B1 APC TAF13 EXOSC2 ANKLE2 DDB1 TNRC6B BPTF MCTP2 OTUD6B MED25 AP4S1 GLI2 PPP2R5D STRADA SLC9A7 PHC1 CENPJ DCPS RHOBTB2 SPTBN1 METTL5 IER3IP1 PYCR2 NAA10 FRMPD4 MAP1B AGL NEXMIF ATIC PTCHD1 CDK13 KCNK9 ARX SC5D PPM1D NXN EDARADD CHAMP1 SLC6A1 MCPH1 SYT1 MEIS2 CHST14 SLC25A46 EDAR PIGN RYR1 ZIC2 KCNJ2 ATP1A2 COG1 DIS3L2 SATB2 CDON ACTB KCNMA1 SMARCC2 KCNK4 SYP NDN FAT4 TRAPPC14 DLG3 DVL1 WDR19 RSPRY1 GPC4 FOXH1 PPP1CB PAK3 HNRNPU CTCF ROR2 MEG3 WDR4 UNC80 ADNP MAPK8IP3 MTOR PQBP1 CTNNB1 GLIS3 DPM2 EXT1 ADSL MED12L MED13 HUWE1 CREBBP ATRX NODAL KIF15 PUF60 TAF1 FAR1 AP2M1 BRCA1 DYRK1A IL1RAPL1 HNRNPK PPP2R1A FBN1 CDH2 CLP1 BCR SNRPN DMD KIF14 OCRL TASP1 SETD1A WDR62 SCN1A CLCN6 ACSL4 ZNF711 CNKSR2 CACNA1C CCNQ TBL1XR1 MID2 PURA ARID2 SPECC1L PPP1R21 PIGB PDE4D ACTG1 RAB39B DMPK CDK10 PGAP2 GDI1 ARID1B DENND5A KDM5C RPS6KA3 NIPBL ALG13 STAG2 PACS1 MECP2 MPC1 USP27X PBX1 PACS2 ABCC9 CDH11 TMEM94 AFF4 KAT6A RAI1 CEP63 SNORD116-1 DLK1 CDK5RAP2 MED12 ATN1 ADAMTSL1 PIGK MYOD1 CYFIP2 PMM2 TBC1D24 SETD5 IQSEC2 IGF1R AP4B1 PIGU RPL10 MED27 PLAA TBCK KMT2A SMC1A PWRN1 RAPSN UPF3B PIGO RALA KDM1A ZNF462 USP9X KATNB1 KCNJ6 ZC4H2 MKRN3 PWAR1 QRICH1 SLC1A3 CLCN4 ARHGEF2 WAC ZNF292 CLTC KCNH1 AP4M1 TDGF1 TOE1 TAF6 B3GLCT NCAPD3 DLL1 PAX3 EIF5A CSNK2A1 EDEM3 PGAP3 NFIA SOX11 SUFU HS2ST1 ZBTB18 GAD1 SIM1 SMPD4 ZMIZ1 KIF11 BMP2 PIGL DEAF1 SLC25A24 SPEN SIX3 FLII ZNF41 PIGG TWIST2 PIGV TRMT10A ZNF81 SMC3 CPLX1 CHD2 AP4E1 AGTR2 MID1 ADARB1 PITX2 MBD5 RNF135 FTSJ1 EEF1A2 WARS2 PIGY TGIF1 DPF2 CNOT2 SHMT2 MAPK1 TCF20 PIEZO2 FGF8 TRAPPC9 ATP6V1B2 NALCN SSR4 IRF6 CDK6 SMARCB1 WDR26 CDC42 MAGEL2 FOXG1 RAD21 EDA CEP152 UBE3B SEC23A MAF SASS6 ASPM PPP1R15B ALDH6A1 RPS7 SH3PXD2B HK1 DSE SMARCA2 SHH NONO YY1 KDM4B GNE AFF3 DCHS1 AP3B1 SYNGAP1 WNT5A PDGFRB PIGW KCNJ5 MSL3 PIGQ ATP1A3 SLC26A2 CRKL SMARCD1 OGT ALG12 PSMD12 OCA2 HDAC8 IFT43 POGZ GAS1 TGFB3 ARID1A RAB11B STIL SOX4 PRKACB SMAD4 ARHGEF6 PCGF2 FGFR1 COPB2 EHMT1 OPHN1 PIGT MFSD2A SMARCE1 LMBRD1 NCAPG2 CEP135 MINPP1 EP300 ASXL3 SLC35A2 TUBGCP2 SMARCA4 SLC2A1 PREPL LAS1L EXOC2 MYO18B AGO2 TSPAN7 ANKRD17 BCL11A ANKRD11 NSUN2 TRRAP BCL11B SETBP1 ODC1 STEEP1 MESD POLR3A ADGRG6 KNL1 ALG9 EBF3 KDM3B NOG GALNT2 PTRH2 PTCH1 COL11A1 ZSWIM6 TMEM237 OFD1 THOC6 CACNA1A BRAT1 VPS35L CDK19 CIT NPAP1 PRKDC HCFC1 EDA2R DISP1 SNORD115-1 GBA HP_LONG_UPPER_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_UPPER_LIP SLC35C1 B3GALT6 TBL1XR1 EXOC6B ARX AFF2 TRPS1 DIS3L2 HP_MILD_GLOBAL_DEVELOPMENTAL_DELAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MILD_GLOBAL_DEVELOPMENTAL_DELAY WDR26 ZNF408 ACAD8 ACTB COG1 CTNNB1 TBX4 SPATA7 TRAIP PCNT ALB OCRL RBBP8 IARS1 LCA5 DHTKD1 ATRIP ASPA FZD4 ATR B4GALT7 ADNP CENPJ ZNF462 LRP5 ALDH4A1 ABCC8 PEPD TANGO2 GJA1 TSPAN12 ABCA2 TPP2 FTCD AP3B1 RNF168 MAP1B NONO RPE65 PRKAR1A MT-TK CEP152 PDP1 CENPE RRAS2 LRAT NDP NSMCE3 DBR1 PLK4 PLP1 CDC6 MCM4 SOX3 AASS KCNJ11 HP_MODERATE_GLOBAL_DEVELOPMENTAL_DELAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MODERATE_GLOBAL_DEVELOPMENTAL_DELAY HSD17B10 IRX5 TMEM70 TET2 PSMC3 HAL SDHA TPP2 TBX4 RTL1 AIFM1 CDKL5 EGF PHGDH SDHAF1 MEG3 SDHB ADNP PLP1 DLK1 CNNM2 MADD PGM3 TANGO2 SDHD HP_SEVERE_GLOBAL_DEVELOPMENTAL_DELAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_GLOBAL_DEVELOPMENTAL_DELAY ERCC2 SEPSECS MYT1L KMT2E CCDC32 BUB1B CCDC47 SLC25A46 LAMB1 INTS1 VPS51 RNASEH2A GJB6 RTL1 SLC9A6 GABBR2 NTNG1 STXBP1 PEX10 EIF2S3 GRM7 WDFY3 PIGG PEX3 GEMIN4 CTNNA2 VPS11 RTTN ADSL TXN2 MT-ND3 ACOX1 ALG1 TELO2 MT-TT SLC12A2 INSR MT-ND1 GJB2 SNX14 GRIA4 ADK SLC16A2 MT-ND4 LIAS ARX ERCC1 ACTL6B KCNMA1 TUBB3 PEX16 TRAPPC12 MADD CYB5R3 SYT1 RELN PEX11B MT-ND2 KARS1 WDR26 PEX14 HUWE1 PIGN HS2ST1 PEX26 SATB2 BPTF PHACTR1 CDKL5 VPS4A DYM PUS7 PTPN23 PEX6 UBR7 PLCB3 EMG1 TUBA8 NDUFA8 ERCC6 MT-TW PIGS MEG3 ADNP GAMT RNASET2 CTNND2 RLIM YY1 DPYD ACTL6A DPM1 MAPK8IP3 FOXA2 HPDL KIF15 TUBB2A DYRK1A POMGNT1 TSEN2 CYB5A BCORL1 TSEN54 KDM4B RNASEH2C UGDH GLYCTK PSMD12 FOXG1 AGO2 SEMA5A MED25 ARNT2 PEX13 DYNC1I2 PALS1 JARID2 TBL1XR1 ZPR1 PEX1 ENPP1 PPP1R21 PEX12 MT-ND5 FIG4 ZMIZ1 ALG2 PURA AP3D1 COG8 WASF1 FBXL4 UNC80 DAG1 MT-ATP6 TANGO2 GLUL NIN ZNF335 PEX2 PROP1 TRIP12 PSMC3 PEX19 SVBP ASXL3 HESX1 TANC2 DEGS1 PEX5 MT-TK MED27 DEAF1 CASK EXOC2 NEXMIF ACO2 SMC1A GABRG2 CNOT3 NTRK2 TCF20 PYCR2 MTRR LHX4 ABCC6 KAT8 CLTCL1 DPYSL5 PIGU RNF2 UGP2 MT-TL1 GNPTAB GLI2 SLC25A19 DDX6 MED13 TBCK OTX2 STAMBP NTNG2 MECP2 AIMP1 POU1F1 GFM2 GRIN1 VPS53 RALGAPA1 RAB3GAP2 KCNJ6 MT-ND6 ALG12 DOCK3 GSX2 EXTL3 ERCC5 VPS35L TBR1 TSEN15 KCNH1 GABRA2 GRM1 FGF13 HTT FGFR3 MT-TV DALRD3 PHGDH TNRC6B STRADA TRMT1 RPS6KA3 TRAPPC4 EXOC8 SATB1 MN1 FBXW11 TSEN34 DLK1 HP_GENERALIZED_ABNORMALITY_OF_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_ABNORMALITY_OF_SKIN ERCC2 PPARG ATP7A SDHD ERCC3 C1R COL1A1 ATP11C ENG NTRK1 F7 HERC2 FLI1 SLC18A3 ERCC8 HPGD MT-ND6 TGFB1 FECH TREX1 GJB6 ANGPT1 TRMT10A CPA1 AGXT ABCC2 FOS LAMB3 GORAB SH2B3 PLEC RTEL1 MBTPS2 CBL COL1A2 STN1 GFI1B RPS6KA3 TERT TNXB MYH6 SERPINF2 IER3IP1 HPS1 NAA10 AGPAT2 NDUFS2 SPEN MT-TS2 PEX3 CTSA MAP2K1 SMAD3 PUS3 SCN8A AGA LRP1 KRT1 LMAN1 GJB2 IL2RG PEX12 KCNK9 IFIH1 SPTLC2 SAMHD1 TSHB ELN MYO9A COG4 SBDS SLURP1 POU1F1 SCN2A MT-ATP6 RHCE BCOR EDARADD SLC6A1 LMNA ALDH18A1 ACVRL1 DOK7 MAP2K2 CHST14 MYLK SREBF1 SDHC AKT1 F8 GLRX5 ITGB4 CHRNE HFE PRKCZ ATP8B1 MANBA MT-CO3 CYB5R3 PARN NDN MPL PEX5 SIK3 ADA2 CPOX UVSSA STXBP1 ITGB2 FZD4 ZNF699 LIG4 UGT1A1 CTCF SFTPB MYO5A MTAP MED12 JAK2 WAS STAT3 LAMC2 BRCA1 GNAS PROC MAX TP63 NCF1 ERCC4 FDFT1 INSR TBX20 EDN3 PPOX CDKN1B UROD PEX19 MT-TW XPR1 TMC8 AEBP1 NEXMIF SNRPN DSTYK TPI1 DSP COG5 COL7A1 FKBP14 ABCD3 SLC25A1 PSENEN HR BCL7B CCN2 PTEN PML NFKB1 SCN1A PIGA ATM SMAD4 MDH2 TBL1XR1 SLC2A1 RECQL4 MT-CYB IYD NFKB2 ORAI1 COMT KRT14 GYPC EPB41 COL5A1 SLC2A10 COL17A1 MPLKIP HBA1 PGAP2 FUCA1 F5 GP1BA SPINK1 CHAT ANTXR1 CHRND GBA ADAMTS2 VWF IL17RC SOX10 EIF4H LMX1B SLC17A9 GLUL PCK1 JAG1 SMARCA2 TOR1A ITGB3 ATR ANK1 LYST MT-CO1 TINF2 CHRNA1 MED13L PIGT CCDC115 KIF1B BRD4 TARS1 BUD23 MTX2 HOXA11 TSHR NLRP3 SLCO1B1 EPM2A ARL13B DEPDC5 DGUOK HIRA SNORD116-1 PKLR NHLRC1 SLC39A13 PSMB8 CLDN3 ERCC6 KIT PMM2 TBX1 PTDSS1 MT-ND4 MITF ODC1 IGF1R SYNGAP1 HSPG2 DLL4 DZIP1L EXPH5 KRT10 HBB CLCN7 FERMT1 MEFV TCF4 ZMPSTE24 SMC1A PWRN1 CCM2 KRT2 GP1BB ETFB FANCE IRF5 LRP5 SULT2B1 IL36RN STAG1 MKRN3 ERCC5 MT-TF PWAR1 ABCA3 PRKAR1A ATP6V1E1 SPTA1 NOTCH1 FH FBN1 PHGDH UNC45A XPC CLDN1 SCN9A SLC27A4 CFI TPO KCNN4 POFUT1 CAV1 PAX3 APOE CDH23 FAS RAB27A TWIST2 TMEM270 GHR SLC6A19 NFIA ABCB4 PDPN NF1 CASR SMARCAD1 ASXL1 CFHR1 NDUFS4 ITGA2B SLC25A3 ZNF408 ATRX MYD88 PIGL FBLN5 ALDH3A2 POLR3A PCNA SLC37A4 ACD PEX1 SLC25A24 C2 PIK3CA ATP6AP1 ATRIP PRSS2 SLC25A13 RYR1 ICOS PIEZO1 CD81 PRF1 PDGFRB SOX18 PEX26 OCLN KNG1 EDNRB AKR1D1 FANCA PEX14 ZIC3 GLA TOP3A IFT43 SMC3 KRT8 SDHB ABL1 LHX4 ATP6V0A2 FCGR3B CHD2 SERPING1 TMEM127 ELOVL4 TNFSF11 MCFD2 BLOC1S3 TGM5 ACTA2 NFKBIA RARA B4GALT7 RET MASP1 NCF2 FTO RNF113A METTL27 TGFBR1 NFIX MAPK1 CBS ALDOA VHL PEPD PEX16 ARID1B BLM CD19 GJB3 RAB3GAP2 STING1 ATP6V1B2 CYB5A RAG1 GJB4 RAD21 PPP1R15B RORB SLC34A2 TRAIP PDGFB TFAM NAGA LOX CARMIL2 DUOX2 PLOD1 DOCK6 TNFSF15 SLC39A4 HESX1 ABCC6 XPA DPAGT1 CFTR TFAP2A RAG2 EDA LUZP1 MUSK ADAM17 ATP7B MMP1 IKBKG KCNJ6 LRP4 RFC2 FASLG KCNQ2 GABRA1 ELP1 PIGW NCF4 DNASE1 IKZF1 CITED2 USP8 ATP1A3 IL17F CTRC GALT DDB2 SPTB WNT10A ACTC1 NPRL2 USF3 NEU1 SCARB2 NUMA1 COL3A1 FCGR2C SP110 DDX6 PGM3 MT-ND1 ALDOB TGFB3 COG7 PLIN1 RHAG JUP TGFBR2 VPS33B ENPP1 PRTN3 ALOX12B RNASEH2C MT-TL1 FYB1 KMT2E HLA-B HCCS ITGA3 RASGRP1 CLIP2 TNPO3 GCLC MAOA CDSN COG8 GGCX GJA1 ABHD11 TET2 DKC1 LPL FLT4 ALG8 MMACHC PFKM PDE11A SNAP25 RNASEH2A NSD1 CASP10 POLD1 SEPTIN9 MT-CO2 CR2 HLA-DRB1 STX1A BMP2 DDR2 MRAS IL12RB1 PROS1 EGFR SAMD9 FANCD2 TMEM260 CIB1 SLC4A1 GALK1 PAX8 CCR6 CHRNB1 F13B PDCD10 NBAS KRT18 FGF23 PLCG2 ALG6 HK1 POLH SMAD2 KRT5 F2 F13A1 RIN2 PRKG1 CTNNB1 TNFSF12 WIPF1 KRT83 UFD1 RNU4ATAC SCN10A STX11 POGLUT1 ABCB11 XPNPEP2 MAT2A HPS5 WRAP53 UROS GTF2IRD2 STUB1 RHOH CLTRN TRHR SKI SDHA AQP5 CDH3 KCNQ3 ARMC5 BPGM ADA PLXND1 GNAQ POU2AF1 ANAPC1 VPS37D KRIT1 TERC LIPN LZTR1 SERPINA1 RAB3GAP1 DHFR PRSS1 PLOD3 RMRP SLC25A20 SPIB MYH11 KDSR GLMN GP9 PKP1 RIT1 TRPV3 PEX6 GTF2I HDAC8 B3GALT6 CFH KRAS HLA-DPA1 COL12A1 WRN HNF1B TNFRSF13B EIF2AK4 RBBP8 EBP SPOP MMP23B NR1H4 EPHB2 PKHD1 RAF1 NGF ZNF469 COL13A1 ANTXR2 FIP1L1 SLC20A2 IL7 PRKACG TGFB2 CAVIN1 SPTBN1 DCLRE1C NHP2 NPRL3 PYCR1 SCN4A PEX10 NECTIN1 CENPE MPV17 ERCC1 LBR TBL2 SLFN14 HEY2 PRKAG2 KLLN CYBB CLEC7A GUCY1A1 GATA1 EDAR IL7R LARP7 CDIN1 ATP1A2 CLPX AIP RERE CYLD EPB42 BRAF TSC1 PORCN NPC1 SLC26A4 LHX3 RINT1 TSC2 MVD ALMS1 CYP7B1 PALLD FCGR2A HS3ST6 DPM1 TGM1 DNAJC30 ADGRE2 GSN CTLA4 DNMT3A BMPR2 SLC35A1 SYT2 NPC2 PRRT2 ETV6 ALDH2 NDP ATP6V1A COL5A2 SRSF2 ADAR ITGA2 FGFR2 POLA1 GTF2H5 DCDC2 TLL1 JAM2 C1S SERPINE1 TYR EVC2 RNF168 CSTB TALDO1 BRCC3 SEC24C IL12A FLNA LCP2 CDKN2A BRCA2 EIF2AK3 SLC5A5 LMNB2 PSAT1 JMJD1C PRPS1 LORICRIN BSCL2 G6PD GALM NECTIN4 SEC23B SLC29A3 TRAF3IP2 SLC10A1 NIPBL NSDHL ETHE1 CTSB MVK RUNX1 SOS1 SMPD1 ZBTB16 SLC30A10 PSMC3 NSUN2 LIPA MEN1 DHCR7 NOD2 SETD2 GATA6 CASK UBE4B HLCS TBX19 RAPSN CSTA GTPBP3 BAAT PLK4 PTPN22 CFHR3 F12 KANSL1 EVC RHD CYBA MYOF PTPN11 ETFDH PIK3R1 ARL6IP6 HNF4A NKX2-6 ALOXE3 AP1S1 HOXC13 TP53 KRT85 GTF2E2 GNA14 NBEAL2 PEX2 MMP21 STAT5B RASA1 RBM10 MYORG WDR19 MS4A1 EPAS1 SLC1A3 SFTPC KRT74 MT-TQ USP18 XRCC4 ARVCF GDF2 CTC1 SLC25A11 ATP2C1 COX7B SDHAF2 PTPN3 RREB1 RAC2 IL18BP BLOC1S5 AMACR SPTLC1 AGRN SLC5A7 CALR MT-ND4L HPS6 F10 PALB2 MYH9 TENT5A GDF1 ABCB6 PDSS1 ARHGAP31 CDH11 MT-TS1 RBPJ VIPAS39 EOGT GTF2IRD1 POLE SPINK5 FOXE3 RBM28 C4A DSG4 ELMO2 FOXP3 SNAI2 PIGV FANCC NLRP12 STXBP2 GLB1 HELLPAR NABP1 NDUFB11 DNASE1L3 GALE GPR35 APC2 CD109 ADAMTSL2 TFR2 NKX2-5 POLG2 PLG MRE11 ALAS2 HPS4 PIGY PLAU ETFA SNX10 HBG2 TRPM4 SYK PARS2 SLCO1B3 MDM2 MT-TH TMC6 TRMU ALPK1 ANKRD26 PROP1 FRG1 FDPS NLRC4 PMVK PCNT PRICKLE1 TNFRSF1B IFNG NOP10 DLST RNASEH2B STIM1 CHD7 ATL3 SETX DSE IFT122 CYBC1 GATA4 HLA-DPB1 IL17RA SEMA4D DTNBP1 MFAP5 HBA2 SCN11A GPI NPM1 LAMA3 SLC2A2 EPHB4 PTF1A FGFR1 MAGEL2 SLC51B IRF2BP2 CYP27A1 PGAP3 SLC44A1 LEMD2 HSD17B10 GABRG2 CDAN1 KRT9 FCGR2B KDELR2 NLRP1 GNPTAB AK9 AP2M1 PEX11B TTC37 KRT16 SCN1B FUZ KIAA0319L UNC13D WDR35 DAXX ACADVL ARX MT-ND2 ITGA6 RABL3 COX4I2 LAT2 NBN KCNAB2 P2RY12 TG CEP152 HSD3B7 FERMT3 FGFR3 CPN1 MLXIPL PRKACA KITLG MT-ND5 GATA2 HPS3 LIMK1 SF3B4 PRDM5 BAZ1B HMGCL HLA-DQB1 SLC16A2 PIGO MMEL1 ATL1 PERP ADAMTS13 CASZ1 CD28 VAMP1 GP6 PRDM16 DUOXA2 MST1 ACP5 CENPJ VPS53 TNFRSF13C PEX13 USB1 YARS1 PCDH19 BMPR1A DDX11 AKT3 PRKCD TSPAN12 ATP6AP2 RNF213 CACNA1A TCIRG1 FKBP6 CLDN4 NPAP1 TBXA2R PSMG2 GABRD SNORD115-1 CD46 TNFRSF1A HP_LOCALIZED_SKIN_LESION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOCALIZED_SKIN_LESION PPARG ATP7A A2ML1 C1R COL1A1 CCDC32 LAMB3 NF1 NRAS MGP LEMD3 COLEC10 DIS3L2 BUB1B NTRK1 ALX3 PCARE SUFU ERCC8 KMT2D PTPN22 MAP2K2 GJB6 HNRNPK CDKN2B APC TAPBP RAB23 KANSL1 GNAS CCT5 GORAB TP53 ITGA6 OFD1 RTEL1 WDFY3 MBTPS2 COL1A2 RIPK4 STEAP3 NCSTN LPL CDH3 TERT EGFR HPS1 BRAF ERCC2 GATA5 ANKRD11 FAS CBL SPEN TNFRSF11B SMAD3 PUS3 XYLT2 ITGB4 KRAS ATP2A2 ABCC6 LRP1 RBM8A GJB2 ACVR1 SIN3A SOS2 KCNK9 SPTLC2 AKT1 NKX2-5 RBM28 EYA1 ASXL2 PLXND1 NXN LMNA KCNMA1 SOS1 ALDH18A1 KIAA1549 IDH3A ERCC4 SAG ERCC3 PLEC SDHC HUWE1 SRP54 PSTPIP1 TP63 CTBP1 PRKCZ PLAG1 IMPG2 MSX1 TMTC3 TOPORS OTUD6B PARN GUCA1B FAT4 ADA2 CPOX RET ITGB2 ZNF699 IFT88 HNRNPU SLC17A9 CTCF ROR2 ZSWIM6 EFTUD2 GPC3 PHIP IL6 MTAP MED12 AK2 MTOR EXT2 LAMC2 NOD2 PROC PIK3CA PTCH1 NCF1 BTK INSR SPATA7 KIF15 EDN3 CDKN2A PPOX PDGFRB ATP6V1B2 CDKN1B UROD CHST14 OCA2 RRAS2 ERAP1 TMC8 AEBP1 ACD TNXB COL7A1 FKBP14 PSENEN KCNJ2 CD96 TNFRSF11A UBE2A BCL7B CCN2 ATM CHN1 NAA10 ROM1 JARID2 RECQL4 RERE UBE3B BUB1 COMT KRT14 COL5A1 IL23R ARL3 ZMIZ1 DVL1 COL2A1 BRCA2 GDF1 COL17A1 KDM5C PTCH2 KRT17 CYP27A1 CDK10 CARD14 GSC MAX ANTXR1 SHOC2 USH2A GBA ELN ADAMTS2 NADSYN1 FANCG PDE6G SIX1 IL17RC SOX10 EIF4H HRAS GHR HMGA2 TULP1 CITED2 SVBP MSX2 RRAS DOCK8 MGMT TANC2 TINF2 LDLRAP1 FGFR3 MED27 SIX5 CNGA1 POLR1B FSCN2 IRF6 APOE BUD23 DHX38 MTX2 ALX4 PDE8B ARFGEF2 SDHD ABCG5 MEFV HIRA LPIN2 KDF1 SLC39A13 PSMB8 DACT1 CLDN3 MLH1 NECTIN1 TBX1 PTDSS1 SETD5 MITF ODC1 FANCB STAT3 RBPJ IL10 CDK4 LIPH TBX4 H19 HSPG2 DLL4 KIZ DHCR24 DSP RLBP1 KRT10 HBB PDE4D FERMT1 MAP2K1 TCF4 ZMPSTE24 AUTS2 KRT2 FANCE FKBP10 DOCK3 EXTL3 XYLT1 SPTA1 NOTCH1 POLR1C CFAP418 TUB FBN1 CDKN2C PRKAR1A CDKN1A XPC CLDN1 CCL2 IGF2 VPS13B GNAQ JAG1 POFUT1 RBP3 CAV1 PAX3 ERMARD G6PC1 CDH23 CEP57 TWIST2 EDEM3 BRCA1 TMEM270 SLC6A19 SLC29A3 SATB1 PDPN TBXT RAF1 KIF1B SMARCAD1 RAD51C RPL10 BUB3 RIT1 UBAC2 CA4 POLR3A ARL2BP PTEN SLC37A4 BCL6 TAP1 ESCO2 KMT2A VHL CHRNG SOX18 EDNRB GNAI3 TCIRG1 GPNMB APOA2 KCNQ1OT1 C4A FANCA LIPC IDS MSH2 TOP3A EYS SMC3 TCOF1 SLX4 ABL1 ALX1 NELFA ELOVL4 TEK FGFR2 GGCX ZFPM2 TRAF6 PRCD SNAI2 B4GALT7 MASP1 RPGR NCF2 EED KLHL24 METTL27 TGFBR1 NFIX MAPK1 PEPD TLR4 ARID1B BLM PIGL PSMD12 GJB3 GLA TSC1 PAX1 HS2ST1 DEAF1 MAP3K7 CWC27 PDGFB PUS7 NOTCH3 ABCB6 CARMIL2 BMS1 PLOD1 DOCK6 KITLG PIGS SLC39A4 NDUFB11 XPA SPECC1L DPAGT1 SUZ12 SH3PXD2B IFNG TFAP2A CDC42 RP9 EDA LUZP1 BRIP1 RLIM MMP1 IKBKG ACTL6A DCHS1 THPO RFC2 MAPK8IP3 WNT5A TRIM37 NCF4 ANK1 SCAPER DDIT3 IKZF1 UBE2T TTC37 TAF1 B3GLCT USP8 IL17F CTSC DDB2 NEK9 RAD51 FN1 USF3 VANGL1 COL3A1 GATA4 PGM3 MAP1B PIGG TGFB3 NFKB1 PALB2 PRTN3 COL12A1 SLC35C1 HLA-B HCCS COX7B CLIP2 SMARCAL1 ABCG8 EBP WAS RMRP ABHD11 DKC1 LRAT DSTYK PDE11A KDM6A LETM1 IFT172 FLCN POLD1 COL14A1 NLRP3 FANCI GJA1 HLA-DRB1 STX1A CTNND1 PRPF8 DDR2 TRIP12 HGSNAT CREBBP BTNL2 PAFAH1B1 IFT140 FANCD2 TMEM260 CIB1 AHI1 FANCL CCR6 ASXL1 ALPL KAT6A RBBP8 SALL4 BEST1 ERCC6 APOC2 POLH MMP14 SKIV2L KRT5 SDHB DPYSL5 IL12A WIPF1 DDX6 KRT83 ALG9 SUGCT UFD1 MED13 SNRNP200 MRAS TYRP1 NEK2 POGLUT1 AHR LDLR LZTR1 SLC25A24 IGF1 WRAP53 UROS BCL2 GTF2IRD2 TGFBR2 GP1BB CLTRN RP1L1 FMR1 LDHA AQP5 KRT6A DYRK1A ARMC5 NGF RETREG1 EDAR ANAPC1 VPS37D ELANE PRKACA PCNT DLG4 IDH2 ADAR KCTD1 MC1R CFTR KDSR LYST GLMN CUL4B TRPV3 MDM2 SLC4A1 PROM1 KMT2E GBE1 GTF2I B3GALT6 IRF5 SATB2 ERF HLA-DPA1 KRT6B EIF2AK4 SPOP MMP23B CCR1 EDARADD MCTP2 CRIPT MED25 ZNF469 ANTXR2 ECM1 IL7 IDH3B SOX9 SPTBN1 PLCB4 FGFR1 NHP2 ARF1 TXNL4A CYP26C1 P4HA2 CDH1 APOA1 NAXE PYCR1 CYP1B1 CDKN1C TSC2 WASF1 OCRL GRIA4 PRKD1 B9D2 MPV17 LBR ACTL6B TBL2 GPC4 SHANK3 RFWD3 EP300 KLLN SYT1 CYBB NKX2-6 RGR CLEC7A PRPF31 CRX AIP BPTF CYLD PRPH2 PTPN23 MAN1B1 UBR7 SLC45A2 PORCN ERGIC1 F12 TERF2IP TGM5 PPP1CB PIGN STAT4 DVL3 WDR1 FGFRL1 HAVCR2 CPLX1 VANGL2 REEP6 FLNA HPDL CNGB1 PUF60 ARHGEF18 DNAJC30 GSN CTLA4 SEMA4A SALL1 BCORL1 NEDD4L KDM4B NAGA COL5A2 MMP2 CHD7 UBA1 PCSK9 PRKCD AGO2 PTPN11 HIC1 TASP1 MPL TYR SEC24C GATA6 ERCC5 POLR1D JMJD1C GJB4 ORC1 ERCC1 ARL6 LORICRIN LAMA3 UBR1 TRAF3IP2 WBP11 EIF2AK3 NOTCH2 STAG2 CRB1 MVK MAK SMPD1 IDH1 NSUN2 STK11 MEN1 UBE4B MYH3 NF2 RASA1 CSTA FUZ CCDC22 EDNRA CNOT3 KLHL7 TGFB2 TCF20 CYBA SCN9A ARL6IP6 MYSM1 KAT8 KRT1 KCNQ1 TTC8 NBN KIT RPE65 GNA14 TREX1 ZNF462 USP9X LTBP2 COL6A3 PRPF6 FANCF RDH12 PRPF4 DST ARVCF CAPN15 GJA5 CTC1 RP2 COPB1 FAM161A RREB1 REV3L FZD2 TRMT1 WASHC5 BLOC1S5 SPTLC1 TRAPPC4 COL6A2 DSC3 PSAP POMGNT1 FBXW11 MADD NSD2 MYT1L ENPP1 ARHGAP31 GFI1 MAFB BCOR SPTB CHRNA7 EOGT GTF2IRD1 KIF11 KIF7 NTNG1 TAP2 PDE6A APOB KLRC4 SLC2A10 TERC ACTB EDN1 EPB42 FANCC PRPF3 SLC12A2 DHDDS EPHX2 IMPDH1 ADAMTSL2 FLT4 TRPM4 LMF1 SYK NR2E3 SEMA3E APOA5 MLX PDE6B TMC6 RHO PTH1R LIFR ABCA1 NSMCE2 IRX5 XRCC2 BAP1 GALC POT1 PMVK TMCO1 CTNNB1 BBS2 TNFRSF1B GATA1 NOP10 YWHAE RHOA ATL3 CTNND2 HK1 IL12A-AS1 MED13L DSE NONO HDAC8 AFF3 CYBC1 HLA-DPB1 ZNF408 IL17RA KIF1A RP1 MSL3 NPM1 CERKL ATP2C1 AGBL5 EPHB4 PRMT7 FGF3 CHUK SEMA5A SLC7A14 MAD2L2 PALS1 ABCA4 HOXA13 ASAH1 WRN KIAA0319L TTPA PCGF2 AAGAB DHPS C1S PMS2 GRHL3 NCAPG2 LAT2 HSPA9 KCNAB2 NRL SPRED1 WNK1 FERMT3 IL12B NLRP1 CDHR1 LRP5 ZNF513 LIMK1 SKI KDM6B SF3B4 BAZ1B HLA-DQB1 ST3GAL5 SASH1 ATL1 MERTK LIG4 CLRN1 TMEM127 SEC23B PERP SETBP1 CASZ1 CD28 H1-4 SNRPN PIK3R1 PRDM16 MYOC NTNG2 ACP5 PPP1R17 USB1 FUS MSH6 PROS1 LPAR6 FKBP6 CLDN4 FLNB RASA2 HTT TRIP13 MLXIPL IARS2 TNRC6B KRT16 PLP1 AIRE GABRD SMO FANCM TNFRSF1A COL6A1 HP_REGIONAL_ABNORMALITY_OF_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REGIONAL_ABNORMALITY_OF_SKIN ATR RNU4ATAC SEPSECS A2ML1 C1R KMT2E CCDC32 RTL1 GTF2I PPCS HDAC8 LEMD3 DIS3L2 KCNJ8 WNT10A KRAS SUFU TNNI3 RSPO1 KRT6B KMT2D HPGD PDHA1 VPS51 GJB6 HNRNPK TERT APC KANSL1 LAMB3 TPM2 GPR101 PEX10 ITGA6 PLN GJB3 TNNT2 MCTP2 COL17A1 SLURP1 WDFY3 PEX3 IVNS1ABP ZNF469 UBR7 TMPO RPS6KA3 KRT1 SMOC1 SPTBN1 BRAF NHP2 FKTN GJA1 CBL MAP1B TRPV3 SPECC1L ATP2A2 NIPAL4 NEXMIF GJB2 SIN3A SOS2 KCNK9 WDR37 NECTIN1 NOG AKT1 AIP GRIA4 ANKRD1 NUP188 ASXL2 CSGALNACT1 NXN ACTL6B KCNMA1 TBL2 SOS1 MBTPS2 MAP2K2 KLLN BHLHA9 ITGB4 SDHC OTUD5 HUWE1 MYH7 FIG4 NRAS CAST BPTF ENPP1 MYH3 MYH6 PTPN23 PTEN PEX6 TSC1 PARN PORCN KANK2 NALCN PEX5 ERGIC1 ABCC9 DKC1 PSEN1 TSC2 STXBP1 TGM5 PIGN PAK3 VAC14 CTCF ROR2 MEG3 TNNC1 ADNP MED12 FGFR3 TPM1 MTOR LAMC2 SRD5A3 FGFRL1 LAMA4 EXT1 CPLX1 MED12L TGM1 TP63 IRF6 PTCH1 NCF1 TINF2 ERCC4 HPDL ACTN2 DSP DNAJC30 PITX1 MYOD1 GSN TSEN2 CHST14 DSG1 DPH1 BCORL1 TAT RRAS2 KDM4B CEP55 KRT10 PSMD12 DHODH COL7A1 PSENEN SMARCA2 FGF9 CD96 FGFR2 BCL7B AGO2 AUTS2 ALOXE3 TASP1 RAD21 CHUK JARID2 SLC39A4 TBL1XR1 RECQL4 LMX1B PTPN11 SNAP29 KRT5 RPS23 NOP10 KRT14 ARL3 ZMIZ1 GJB4 KDSR ERCC5 WASF1 LORICRIN LAMA3 PTCH2 KRT17 CDK10 PEX16 SMARCAD1 MYPN UBR1 CARD14 EFNB1 NECTIN4 SHOC2 ELN EYA1 NIPBL EIF4H HRAS CTSB VPS13B SASH1 ATP6V1B2 SVBP RRAS TANC2 USB1 KRT9 MED27 BRD4 CSTA BUD23 ABCA12 SDHD CNOT3 SETBP1 PLOD1 DLK1 TCF20 CLDN3 HNRNPH2 PKP1 ADAMTSL1 SCN9A SGCD POMP KAT8 TRAPPC11 STAT3 SDR9C7 RPL10 PIEZO2 TBX4 PHGDH CREBBP PLAA TCF4 GPKOW FERMT1 MAP2K1 SDHA KRT2 B4GALT7 KRT83 PUF60 RBM10 CSRP3 ZNF462 CTLA4 KATNB1 KCNN3 STAG1 DOCK3 TCAP HSPG2 ACTC1 COG6 RAPSN GLE1 CHRNA1 KDM6A ZNF292 TSEN15 CRYAB PLOD2 CHRNG CTC1 KCNH1 RAF1 B3GLCT FGD1 MYBPC3 POFUT1 NAA10 LDB3 CEP57 LZTR1 TRMT1 EP300 TMEM270 TRAPPC4 SATB1 FBXW11 G6PC3 TSEN34 MMP2 MADD BAG3 MYT1L THOC2 PLEC SMPD4 SALL4 CERS3 DLX4 RIT1 SLCO2A1 GTF2IRD1 NFKB2 PEX1 BMPR1B SLC25A24 COX14 NTNG1 NUP88 SOX18 TERC NSD2 EMC1 AAGAB GDF5 CTSC FKBP10 ITCH PPP2CA ANKRD11 SMC3 EXTL3 TELO2 ATP6V0A2 SLC12A2 TXNRD2 PERP GPR35 NLRP1 BMP4 KRT6C TAF1A NEXN VCL PSAT1 MT-TS1 RBM20 TRPM4 EZH2 KLHL24 METTL27 PEPD ARID1B PIGL CD4 PRDM16 XYLT1 CYP4F22 AQP5 CKAP2L CHD7 PIK3CA RAB3GAP2 PEX11B PEX14 STING1 HS2ST1 CAP2 PEX26 HDAC4 ZC4H2 MAP3K7 UBE3B PUS7 PKDCC DOCK6 PIGS XPA KRT16 DPAGT1 TFAP2A GATAD1 CHRND DSE TGDS RLIM YY1 IFT122 AFF3 DPYD ACTL6A CD28 LONP1 TRPS1 RFC2 MAPK8IP3 TRIM37 ERCC2 TNFRSF1B SEMA4D XPC KIF1A PNPLA1 AAAS MSL3 PIGQ NPM1 DDB2 FOXP1 USF3 MED25 DSG2 LRP4 CYP27A1 IFT43 PEX13 PALS1 JUP RAB11B RB1 CTBP1 HOXA13 LIFR AMACR ALOX12B PEX12 NGLY1 SLC18A3 MCOLN1 PAX1 SEMA3E CLIP2 RHBDF2 BCOR ABHD11 GPC6 EHMT1 DES TCF12 DOK7 LETM1 WAC COL14A1 TAFAZZIN ADAM17 CCBE1 LAT2 NUP107 PEX2 STX1A FHL2 TRIP12 MRAS PEX19 ASXL3 SCN5A SERPINB7 WNK1 CIB1 RIPK4 DOLK ASXL1 SERPINA12 LIMK1 LMNA NBAS MMP14 MTX2 BAZ1B MUSK SDHB DMD DPYSL5 RIN2 PACS1 HAND2 GATA1 DDX6 VPS33A MED13 SEC23B RTEL1 POGLUT1 TNNT3 ERCC3 MST1 NTNG2 FLG IFT57 TNNI2 IGF1 WRAP53 PSEN2 DHCR7 LBR SMC1A GTF2IRD2 ESCO2 OFD1 DDX11 LDHA FLNA KRT6A FKBP6 RETREG1 CDK19 ERCC6 CLDN4 RASA2 BLM CHST3 ANAPC1 HTT VPS37D BRF1 MLXIPL PNPLA6 TWIST1 RAB3GAP1 SLC39A13 TNRC6B TSEN54 PLOD3 TTN DSC2 CFTR GMPPA KAT6B HP_GENERALIZED_HYPOPIGMENTATION_OF_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_HYPOPIGMENTATION_OF_HAIR SNRPN PDE4D GNPTAB ACD UBE3A RAB27A TGM3 PARN TERT SLC45A2 TYRP1 RTEL1 DKC1 KANSL1 SLC17A5 NOP10 DSTYK UBR1 MYO5A PIGN WRAP53 TERC USB1 UROC1 MOGS LPAR6 TP63 ABCA2 NHP2 TINF2 AP3B1 MLPH PAX3 CTC1 LYST OCA2 NPM1 PADI3 TYR BLOC1S5 RMRP MC1R PAH PRKAR1A HP_DRY_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DRY_HAIR WNT10A RPL21 KRT17 LPAR6 GNPTAB ERCC6 GJA1 ERCC8 KRT74 PADI3 ASL BCS1L SVBP ARID1B PQBP1 HP_ACQUIRED_ABNORMAL_HAIR_PATTERN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACQUIRED_ABNORMAL_HAIR_PATTERN KRT81 SYNGAP1 CHD2 AP2M1 PQBP1 DSG4 ECM1 BLM TGM3 TP63 CNBP PADI3 IKBKG PORCN APC ABCD1 KRT83 KDM5C SLC2A1 DMPK WNT4 NEXMIF ITGB4 NR3C1 ALMS1 COL17A1 NECTIN4 ANTXR1 ZMPSTE24 SLC6A1 HR KRT86 SCN1A LMNA IL2RA HP_ABNORMAL_HAIR_QUANTITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HAIR_QUANTITY PPARG ATP7A A2ML1 TRPS1 RAG1 NRAS DUSP6 MGP NTRK1 CCDC47 GATAD2B KMT2D BBS1 PTPN22 MT-ND6 GJB6 CDH1 KISS1 FOS ABHD5 LAMB3 TP53 RTEL1 MBTPS2 DOLK CDH3 TERT B3GALT6 BRAF AGPAT2 AIMP2 GJA1 CBL MSTO1 SPEN MT-TS2 KRAS MAP1B KREMEN1 NIPAL4 LRP1 GJB2 ACVR1 SOS2 TGM1 RBM28 FOXE1 NXN EDARADD LMNA SOS1 ATP6V1B2 ALDH18A1 LSS MAP2K2 SREBF1 PLEC CCDC141 AKT1 FIG4 TP63 BBS9 HFE PRKCZ TACR3 KCNMA1 PARN KANK2 SHH KRT83 CDH23 SCAPER CPOX ITGB4 NANS VAC14 ZNF699 CEP290 MAP3K1 HNRNPU CTCF ROR2 MEG3 PHIP DOCK7 MED12 ARSB PEX7 UQCRFS1 TACO1 ERCC2 NDUFA12 EXT2 LAMC2 PQBP1 PROK2 EXT1 MED13 SLC7A7 COG4 FGF17 POP1 CREBBP CERT1 BTK ERCC4 INSR DSG4 APCDD1 BRCA1 ZIC2 PPOX UROD DPH1 RRAS2 MT-TW UGDH SETBP1 DNMT3A AEBP1 DSP GNS UBE2A HR NF1 ALOXE3 ARID1A RECQL4 BICRA ARID2 UBE3B PPP1R21 BMP15 NOP10 COX5A NR3C1 ECM1 DVL1 HLCS SRA1 FAT4 MPLKIP KDM5C KRT17 DMPK CDK10 ZNF711 SRCAP WDR81 SLC30A2 ANTXR1 PET100 SHOC2 ARID1B TRPV3 HEPHL1 GLI1 SPRY4 RAB18 PACS1 HRAS NDUFS2 KIFBP LIPH NDUFS3 PACS2 RRAS SMARCA2 CDH11 TMEM94 ATR AFF4 CASR TINF2 FGFR1 BPTF POLR1B IDUA BRD4 TARS1 RAG2 NKX6-2 MTX2 NDUFA13 RAI1 KDF1 GLI2 PSMB8 PPP1CB ABCA5 KRT74 FLNA SETD5 ODC1 IGF1R FGFR2 MED27 HSPG2 DLL4 TBCD BCL11B EHMT1 SDCCAG8 KAT6B ERLIN2 SNRPE MAP2K1 FOXN1 SOX9 ZMPSTE24 SMC1A VDR DISP1 KNL1 MAB21L1 CTLA4 KCNN3 SPIDR ST14 STAG1 CFAP418 MT-TF DCAF17 ADAT3 ATP6V1E1 CYP17A1 NOTCH1 CANT1 POLR1C PHGDH KRT14 EDN3 CLDN1 SLC27A4 FAM111B VPS13B PAX3 TTC7A EIF5A CEP57 TWIST2 TRIM32 CEP19 SMARCB1 PDPN ECHS1 AR IL2RA NMNAT1 UBR1 GATA4 RPL10 SMPD4 CERS3 RIT1 BMP2 SLCO2A1 POLR3A HLA-DRA DEAF1 ACD HS6ST1 DYNC2LI1 SLC25A24 ABCC9 ESCO2 RAF1 KMT2A ATRIP RAB3GAP2 BBS12 SOX18 CYP11B1 LPAR6 IDS NPHP1 PROKR2 KDM1A STAT4 IFT43 SMC3 TCOF1 ATP6V0A2 ALX1 LRPPRC FSHB PERP AIP TRAF6 NFKBIA SNAI2 RPL21 BBS5 MGAT2 MBD5 B4GALT7 BBS7 H6PD ERCC8 EZH2 KLHL24 RNF113A NFIX MAPK1 SIX3 PEPD VAMP7 BLM PIGL SEC23A TRAPPC9 CKAP2L CUL4B GJB3 MSX1 CAV1 STING1 TSR2 GJB4 RAD21 PPP1R15B EDA CWC27 TRAIP CDSN ZBTB20 DCLRE1C CBS MT-CO1 PTEN CDKL5 CYB5A NEK1 ERCC3 SLC39A4 XPA SUZ12 TFAP2A CDC42 LUZP1 SRD5A3 WDR19 KDM4B IKBKG WDR35 GNE WNT10A XPC AIRE TAF1 EBP USP8 CTSC DDB2 IFT172 SOX10 FEZF1 FMR1 HRURF IFT122 OGT BCORL1 NOTCH2 PSMD12 NEU1 WAC ORC6 NR5A1 PDHA1 COG7 PAPSS2 NFKB1 JUP ZPR1 ALOX12B SMAD4 MT-TL1 SEMA3E ZNF341 ITGA3 EVC RMRP DKC1 CLMP NSD1 KDM6A NHP2 SMARCE1 KRT86 MT-CO2 CCBE1 NDUFAF6 COL3A1 CTNND1 WDPCP NEPRO BTNL2 NDUFA10 UQCC2 SCO2 NDUFV2 SMARCA4 SUCLA2 CHSY1 RIPK4 ASXL1 SETD2 OFD1 SPP1 NDUFV1 IQSEC2 MMP14 XYLT1 WNT10B MT-CO3 RIN2 ALMS1 ARX VPS33A ALG9 FRMD4A TRIO RNU4ATAC MRAS MAF LZTR1 WRAP53 AHSG UROS FGF8 SGSH STUB1 TTC8 ARMC5 RNF125 ADA POR ERCC6 EDAR PTDSS1 DOCK6 ANAPC1 BRF1 NDUFB8 CSTB PADI3 SURF1 DSG1 MAPRE2 EDA2R PPP2R3C TTI2 KCTD1 NDUFAF2 FSHR MC1R ABCA12 KDSR PDGFRB SNX14 PKP1 KRT6A GNRH1 HMGA2 HDAC8 SATB2 GNB2 KCNJ8 ITGB6 KRT6B GNA11 ARL6 RAB3GAP1 AMMECR1 RTL1 FREM1 APOE RBBP8 SLITRK1 EXOSC2 SPOP GPR101 DDB1 MMP23B SF3B4 DNAJC21 COL17A1 MED25 UBR7 CAVIN1 SPTBN1 DHX30 BANF1 P4HA2 SKIV2L IL7R ASL KIAA0753 NECTIN1 WDR11 PRKD1 CENPE BCS1L DMRT3 PYCR1 LTBP3 OTUD5 TUBB GUSB TBX15 CARS1 RERE SMS SMARCC2 KCNK4 PORCN WNT4 SMO PIGN ADNP WWOX LIPT1 SLC19A3 CACNA1G HLA-DRB1 SOX6 PHF6 PUF60 NFKB2 IL1RAPL1 GSN CDH2 NDUFS8 KRT71 ATP6V1A MMP2 BBIP1 EPS8L3 OCRL PRKCD GTF2H5 TASP1 POC1A PSMC3IP SHROOM4 TALDO1 KRT10 LZTFL1 PTPN11 HLA-DQB1 CWF19L1 POLR1D RPS23 ARL3 LMNB2 SOX11 AXIN2 TLK2 ERCC5 BSCL2 LAMA3 NECTIN4 SLC29A3 WBP11 ZFPM2 NIPBL NSDHL SASH1 FOXP3 COX15 PSMC3 NSUN2 SMCHD1 DPAGT1 FHL1 IFT52 IRAK1 UBE4B SULT2B1 RUSC2 STIL EDNRA PLK4 KANSL1 PIK3CD NSMF NDUFS7 KRT25 PIK3R1 GATA1 KRT5 LHB PIGU PHF8 VPS37A HOXC13 TBX3 EVC2 KRT85 PLAA GTF2E2 TBCK GNA14 XRCC4 LIPN USP9X KATNB1 SDHA ALX4 LEMD3 FOXRED1 HPGD TBC1D20 ZNF292 MT-TQ CAPN15 CYP4F22 CTC1 NR0B1 TAF6 KCNH1 B3GLCT LIG4 COPB1 TRMT1 FZD2 EP300 CSNK2A1 NDUFAF5 BBS4 BBS2 DSC3 TAC3 PRKAR1A BTD DMXL2 FOXL2 DLX4 ARHGAP31 MT-TS1 RBPJ EOGT KNSTRN SDR9C7 SPINK5 GLI3 NUP107 FLII ELMO2 TERC TRMT10A HGSNAT IFT27 GLB1 MKS1 FAS WNT5A CCDC28B APC2 NAGLU EMC10 NDUFA2 CDK5 DPF2 WT1 CNOT2 TMCO1 SRY AXL MDM2 MT-TH MTFMT IFT74 IRF6 CHD7 CHMP1A HDAC4 MEN1 TWIST1 PCNT DLX3 MMP1 TNFRSF1B RHOA COL18A1 TOGARAM1 ADAMTS3 NDUFAF3 NUS1 AFF3 CD28 PEX6 MRPS22 NPM1 HSD3B2 SMARCD1 HPD GNRHR ANOS1 MKKS GTPBP2 MT-ND4 GNAS MITF ABCD1 SOX4 AP1B1 FLI1 WRN SMARCD2 FGF3 TTC37 TGM3 CHRNA7 PCGF2 POLR3H MCCC2 CNP FUT8 NDUFA9 MAN2B1 HTRA1 NBN HSPA9 KCNAB2 PNPLA6 ASXL3 BNC1 CEP152 TUBGCP2 KISS1R MT-ND1 PRKACA CYP19A1 MT-ND5 HLA-B IL2RG ANKRD11 SKI PEX1 FRAS1 KRT81 NDUFA4 MESD UGP2 CDON NDUFS1 ADAMTS2 DVL3 EBF3 CASZ1 PRDM16 KIT COL11A1 CENPJ FTL USB1 MOGS SLC1A4 EDNRB HLA-DQA1 CST6 COL7A1 RASA2 DHX37 PNPLA1 NDUFS4 SPATA5 KRT16 KLF13 MAP3K7 GABRD DLK1 BBS10 HP_WHITE_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WHITE_HAIR RTEL1 NHP2 PAX3 DKC1 NOP10 GNPTAB TYR TINF2 WRAP53 MC1R TERC MYO5A CTC1 USB1 OCA2 TGM3 NPM1 PARN PADI3 TERT SLC45A2 HP_PATCHY_HYPOPIGMENTATION_OF_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PATCHY_HYPOPIGMENTATION_OF_HAIR MITF SNAI2 MAFB KIT EDN3 FAS LMNA SOX10 WRN TMCO1 EDNRB KITLG PAX3 PTPN22 SALL4 PEPD TFAP2A TYR CHN1 HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_VESTIBULE_OF_THE_INNER_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_VESTIBULE_OF_THE_INNER_EAR A2ML1 PTPN11 CBL NRAS RIT1 GREB1L RRAS SLC26A4 FOXI1 ESRP1 RASA2 SOX10 SOS2 KRAS FGFR2 MRAS RRAS2 RAF1 LZTR1 KCNJ10 CHD7 SOS1 SEMA3E HP_APLASIA_OF_THE_SEMICIRCULAR_CANAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_SEMICIRCULAR_CANAL RRAS2 RAF1 A2ML1 PTPN11 CBL LZTR1 NRAS RIT1 RRAS SOS1 RASA2 SOX10 SOS2 KRAS MRAS HP_ABNORMALITY_OF_THE_INTERNAL_AUDITORY_CANAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_INTERNAL_AUDITORY_CANAL PTEN TWIST1 SIX1 POU3F4 AKT1 EYA1 POLR1C TCOF1 GJB2 POLR1D MAFB ERF OTX2 PRRX1 SALL4 FGFR2 FGFR3 GJB6 CHN1 POLR1B HP_NARROW_INTERNAL_AUDITORY_CANAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_INTERNAL_AUDITORY_CANAL PTEN TWIST1 AKT1 POLR1C TCOF1 POLR1D MAFB ERF OTX2 PRRX1 SALL4 FGFR2 FGFR3 CHN1 POLR1B HP_FUNCTIONAL_ABNORMALITY_OF_THE_INNER_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FUNCTIONAL_ABNORMALITY_OF_THE_INNER_EAR ERCC2 SARDH SDHD A2ML1 EYA4 PCARE FLI1 SEMA3A SLC18A3 PUS7 TNNI3 PTPN22 MT-ND6 GJB6 ATXN3 USH2A MT-CO2 ADGRV1 MT-TV RAB23 ERBB2 KISS1 ABHD5 GNAS NDP MT-TK MT-TP ANOS1 PLN OFD1 TNNT2 GAB1 DNMT1 DLL1 TDGF1 TRAPPC4 MRPS28 ERCC8 ARSL GRHL2 RPS6KA3 MYO3A ANKH USH1C PRPS1 FKTN FAS CBL SPEN VCP MT-TS2 PEX3 MAP2K1 PUS3 SIX3 ZEB2 RBM8A PDZD7 MT-ND1 DIAPH3 GJB2 PEX12 SOS2 TMC1 MAP3K20 MYO9A CEP78 FGF8 POU1F1 MT-ND4 EYA1 FOXH1 BCOR TUBB3 SOS1 ATP6V1B2 KIAA1549 IDH3A KCNQ1 PHOX2B SAG TWNK MT-ND2 SDHC MYO7A PROKR2 CLDN14 SEMA3C NRAS GLI2 PRKCZ ACTB TACR3 ESRP1 NDUFAF3 IMPG2 MYH6 ESPN TOPORS PEX6 GUCA1B SYP SUCLG1 FAT4 LOXL3 SALL4 DLG3 POLG CDH23 ATP6V0A4 PSEN1 GPC4 BTRC CLRN1 ZNF699 IFT88 TECRL TNNC1 HOXA1 MED12 PEX7 LRP4 ELMOD3 TPM1 GLIS3 LMNA ATP1A3 CALM2 PROK2 ATP2B2 MAX NCF1 FGF17 BTK ERCC4 SPATA7 ATRX TGIF1 MT-TE EDN3 CLPP PPIP5K2 HNRNPK HGF COL11A1 PEX19 RRAS2 RFT1 FAM149B1 ERAP1 MT-TW SETBP1 SOX3 SELENOI ZIC1 MT-TC CLCNKA NKX2-5 COG5 FKBP14 SLC25A1 RFC1 COL9A2 NDUFS8 BCL7B CNOT1 PTCH1 ILDR1 PML DISP1 CHN1 ACSL4 ZNF711 ROM1 CNKSR2 DSP MDH2 RRM2B MID2 MT-TF BICRA RERE SNAP29 STRC IYD SHH ALG11 HOXA2 MT-ND5 IL23R AIFM1 ARL3 MYH14 NEU1 FGFR2 MPLKIP CACNB4 HSD17B4 CHSY1 NPPA MPL AARS1 CHAT GBA ELN POMK GFER NODAL PDE6G SIX1 SOX10 IARS1 SERAC1 TANGO2 GSDME EIF4H SPRY4 PEX2 FLRT3 NEFL TULP1 USP27X WFS1 RRAS AFF4 FGFR3 DNM1L TMEM38B CNGA1 FSCN2 FGFR1 KIF1B BRD4 TARS1 BUD23 DHX38 HOXA11 SMPX CCDC50 MCM2 ATG7 OPA1 CISD2 DHX16 PSAP MT-TS1 CLDN3 IGF1 SGCD SPTBN4 MITF ODC1 GJC2 SCD5 IL10 HSPG2 TIMMDC1 KIZ SMO JAK2 RLBP1 SCN2A TMEM126A C9orf72 NDUFS4 TECTA GP1BB CASK CSRP3 KCNJ10 KCNN3 USP9X DUSP6 PEX16 TCAP DCAF17 ACTC1 PRKAR1A GLI3 NDUFS3 CLCN4 FH ATP7A CFAP418 TUB TRDN SREBF1 FGF10 FOXI1 SOX2 EPS15L1 MYBPC3 GRXCR2 TPO RHO VPS13B MT-TI RBP3 PAX3 CEACAM16 VPS11 LRP5 ATP1A2 TBL1Y TMEM270 DMP1 PDPN SUCLA2 PNP NF1 DIAPH1 NMNAT1 LRTOMT SPNS2 UBR1 ITGA2B RPL10 FUS NLRP3 MYD88 RIT1 HS6ST1 UBAC2 CA4 TRPV4 ARL2BP FOXC1 PEX1 RAF1 SLC12A2 COA8 ATP6AP1 RYR1 GUCY2D PEX26 ZNF41 EDNRB RTTN C4A ADA2 SLC25A4 IDS YAP1 ZNF81 NDUFS1 HOXB1 EYS GLYCTK FITM2 LHX4 TMEM127 RAC1 AIP TARDBP TAF1A PRCD VCL RARA SLC19A2 FTSJ1 PAK3 TMPRSS3 RET ECE1 SYNE4 RPGR FTO LOXHD1 RNF113A ARX METTL27 NDRG1 ACY1 TLR4 ACTG1 MT-TH MAP3K7 BRAF KYNU SH3TC2 GLA PAX1 PEX14 CACNA1G TRIOBP PPP1R15B CAP2 ERCC3 GIPC3 VPS4A PEX5 EPG5 CAT NAGA ADCY1 MT-CO1 DUOX2 ERCC6 HESX1 CEP250 XPA TBK1 GPSM2 COL11A2 PCDH15 TFAP2A GATAD1 RP9 LUZP1 MVK COL9A1 DCHS1 RFC2 XPC SCAPER NDUFV1 DDB2 DLX5 SCN1B ROBO3 CRKL TNFRSF11B PEX10 ARSG FBN1 CLIC5 ALG12 PEX13 WAC NUMA1 NDUFAF1 DSG2 PGM3 FRG1 PDGFB GTF2E2 S1PR2 MARS2 NOG ENPP1 PRTN3 SLC26A4 MT-RNR1 CLCNKB MT-TL1 STAG2 ARHGEF6 CLIP2 DMXL2 GBA2 DGUOK CSPP1 ERAL1 ABHD11 TET2 POGZ LRAT NF2 SCN5A BSND COX10 SNAP25 MEGF8 LETM1 IFT172 ACOX1 LORICRIN SLC4A11 DCC POLD1 BCAP31 DCDC2 TAFAZZIN CCBE1 MT-TN MBTPS2 PHYH STX1A CASQ2 ACVR1 AAAS PRPF8 HGSNAT CREBBP TPM2 MRAS NRTN HLA-B KCNA1 DSPP IFT140 CLRN2 AHI1 JAG1 NOTCH2NLC ZIC2 ACO2 DOLK SLC44A4 MAPK1 BEST1 PNPLA2 SIX6 COQ6 SURF1 FGF3 TP63 SLC1A3 NDUFAF8 STEEP1 NDNF MT-CO3 GREB1L CALM1 OTX2 ALMS1 MT-ND3 HACE1 IL12A PAX2 MARVELD2 EIF3F NDUFS6 SNRNP200 THPO IL1RAPL1 WDR11 MAF NEK2 AHR XPNPEP3 SMC3 LZTR1 GRAP SMC1A GTF2IRD2 SOST RP1L1 SDHA DUX4 POU3F4 VHL HOMER2 PTDSS1 DNAJC3 VPS37D PRKDC TWIST1 PCNT TTN PPP2R3C MIR96 USH1G KARS1 P2RX2 PDGFRB SNX14 STAT3 TRPV3 LHX3 GNRH1 COQ2 PROM1 GTF2I PPCS HDAC8 B3GALT6 GALK1 IARS2 ARNT2 PDK3 HLA-DPA1 GJA1 MYCN AMMECR1 EBP EXOSC2 CD151 COL4A3 MMP23B CCR1 FAR1 NOP56 SH2B1 TMPO GDNF SLC9A7 SGMS2 FIP1L1 IDH3B SPTBN1 FAM20C MAN2B1 P4HA2 FRMPD4 SGPL1 GDF6 ZNF469 SDHB PTCHD1 ALDH18A1 WDR37 PJVK EFNB1 MGAT2 ADK ANKRD1 ITGB3 ERCC1 GIPC1 OTOF TBL2 BCS1L EP300 RGR NKX2-1 CACNA1A PRPF31 GJB3 MYH7 CCDC141 CRX MIA3 IGBP1 PRPH2 SLC35A2 MYO6 TOP3A PNPLA8 CYP7B1 ABCC9 DIABLO COX16 SPATA5 IDUA CALM3 STAT4 COL13A1 RNASET2 FGFRL1 LAMA4 COL2A1 FOXRED1 SOX6 CPLX1 GATA3 REEP6 EDC3 EPRS1 CNGB1 RDX ARHGEF18 ACTN2 COL4A5 COL3A1 DNAJC30 SEMA4A DNMT3A KIF7 SYT2 SUMF1 NDUFB9 TYMP HDAC4 BCR MPDZ GRXCR1 UBA1 PNPT1 ITGA2 DMD DAB1 CDK5RAP2 GTF2H5 PTPN11 CNNM2 TYR RAD21 LMX1B KCNE1 GP1BA DHDDS BEAN1 SLC5A5 DVL1 NDUFAF4 ERCC5 ERBB3 ARL6 RAB39B DBH EGF MYPN NDUFAF2 MECOM GDI1 NDUFV2 MT-TQ NIPBL KMT2D ALG13 PRF1 SQSTM1 MECP2 OTOA CRB1 MYH11 MAK CDON ZBTB16 CTNNB1 RNF13 CHD7 MET CATSPER2 UBE4B PORCN NDUFAF5 ABCD1 MFN2 KLHL7 NSMF ADAMTSL1 WNT10B PIK3R1 MOGS IQSEC2 ABCC6 NDUFS2 TRAPPC11 ABCC1 GCDH LRP2 MICOS13 COCH PMP22 TTC8 RPE65 TBCK MYO15A XRCC4 NDUFA1 ASCL1 HAX1 UPF3B STAT5B SLC29A3 SEM1 PRPF6 NUBPL EPAS1 OTOGL SLC52A2 KDM6A RDH12 PRPF4 TBC1D24 CRYAB GYG1 KCNH1 SPTLC1 MPZ GDF5 FEZF1 SLC25A11 RP2 SDHAF2 CIB2 FAM161A LDB3 CTLA4 POMGNT1 CDK8 SLC5A7 HAAO TAC3 PRRT2 TMEM132E RBMX SMCHD1 MYH9 HS2ST1 BTD BAG3 FIBP TENT5A LONP1 CNOT3 RPS28 CDH11 MAFB GTF2IRD1 ATP6V1B1 SLC17A8 KRAS DKK1 CHCHD10 NDUFS7 REST C1QBP MEFV PDE6A DNMT3B ELMO2 KLRC4 SNAI2 NSD2 MPEG1 TRMT10A PIGV CD164 TPRN SH2B3 EPOR ARSA PTPRQ PRPF3 NLRP12 STXBP2 BMP4 TXNRD2 NABP1 TRNT1 AGTR2 DNASE1L3 GALE DNAJC19 SLC39A14 CD109 NEXN IMPDH1 LMNB1 MEOX1 GAS1 RBM20 XYLT2 ROR1 NR2E3 PRDM16 PDE6B PEX11B SCN1A SLC26A5 CDC42 IRX5 LARS2 KITLG PROP1 SALL1 MEN1 STX11 BBS2 HLA-DRB1 OSBPL2 SLC12A3 SBF2 TBL1XR1 DLST ZMPSTE24 COL4A6 IL12A-AS1 PLAA RIPOR2 FXN HLA-DPB1 ZNF408 NDUFA6 NDUFB10 RP1 PLS1 PHEX CERKL ARID1B AGBL5 GMPPB HARS2 PRMT7 MRPS2 TK2 TRRAP IRF2BP2 WHRN SLC7A14 ABCA4 KDELR2 CTBP1 ARHGDIA AP1B1 GNPTAB SEMA3E GCGR TIMM8A FLNA LHFPL5 UNC13D AP1S2 MPZL2 DLX6 DES ASAH1 MT-ATP6 CLDN9 IL17RD GNRHR TBX22 THOC2 RYR2 LAT2 SEMA3D NDUFB11 KCNAB2 FHL2 AGRN NDUFA11 CRYM TG NRL PISD TRPM4 KISS1R MLXIPL TPK1 GATA2 TSPAN7 HTRA2 CDHR1 NPM1 ZNF513 ESRRB HARS1 LIMK1 SKI PRDM5 BAZ1B ABHD12 SLC52A3 GJB1 HAND2 MERTK HSD17B10 PERP PIK3C2A NARS2 CASZ1 VAMP1 DUOXA2 CCND1 NOTCH3 PTRH2 PSEN2 DHCR7 YARS1 KCNJ16 COL27A1 MT-CYB RDH5 JUP LARS1 FKBP6 CLDN4 FLNB RASA2 MYL2 PNPLA6 HCFC1 NDE1 TSPEAR COL9A3 NDUFB3 GABRD TMEM126B GMPPA TNFRSF1A LRP12 HP_ABNORMALITY_OF_THE_DORSAL_COLUMN_OF_THE_SPINAL_CORD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_DORSAL_COLUMN_OF_THE_SPINAL_CORD ATXN1 ABCD1 ALDH18A1 SETX FAR1 DARS2 HP_ABNORMAL_CNS_MYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CNS_MYELINATION NDUFS4 TRAPPC11 SMPD4 EXOSC1 ZMIZ1 NDUFS1 SURF1 PSAP CNOT3 PDYN SLC12A5 POU3F3 PIGL ADGRG1 GAA POLR3A ERCC8 PEX1 RNASEH2A SLC13A5 COX14 PEX13 GALC NDUFS7 FANCB SIGMAR1 RARS1 PRF1 RERE GRM7 EDNRB PIGG ADAR PIGV TRMT10A SPTAN1 VPS11 HEXB ALG14 HLA-DQB1 POLR2A ATP6AP2 ADSL TIMM22 GAN RAB3GAP1 SPTBN1 ARSA IBA57 ACOX1 PGM3 AIMP2 NKX6-2 SDHB QARS1 ERCC6 DARS1 LRPPRC TRNT1 NCDN PC ADARB1 BMP4 IFIH1 STXBP1 SAMHD1 SUMF1 L2HGDH SNORD118 ISCA2 SLC16A2 PIGY NUP188 NDUFA2 LIAS EIF2B5 AIFM1 RNF113A PARS2 PRPS1 KATNB1 MTHFS SPG11 ARID1B MADD POLR3B CYB5R3 MTFMT WDR26 AARS1 ACY1 ACBD5 GFAP TMEM63A GPT2 CARS1 PHACTR1 ERCC3 ABAT NDUFAF3 CUL3 SOX10 SLC25A12 ALDH3A2 ITPA TREM2 SHANK3 ACTL6B NADK2 PKDCC PIGS RNASEH2B PLP1 SPATA5 PPP1R15B ALDH5A1 PEX7 RNASET2 AHCY TACO1 ERCC2 LIPT1 SLC19A3 FOXRED1 MAT1A MLYCD PLPBP PDCD1 EIF2B2 ATXN2 PTEN EPRS1 UPB1 INSR NDUFA6 PIGW NDUFB10 FAR1 POLR1C MORC2 DDOST CYB5A NDUFV1 MT-ND1 NDUFB9 ALG9 UGDH NDUFS8 NRROS NARS2 EIF2AK2 TKFC BOLA3 SETD1A PNPT1 ALDH7A1 GDAP1 RBM8A NDUFAF1 PDHA1 TGFB1 GTF2H5 CYP27A1 SP110 DDX6 POGZ LMNB1 FAM126A PGAP3 ISCA1 LEMD2 HLA-DRB1 FA2H DHX37 RNASEH2C ACER3 YIF1B INTU ALG2 NDUFAF4 AP3D1 SNIP1 ERCC1 CDC40 PGAP1 MPLKIP NUBPL CNTNAP1 FBXL4 ABCD1 PGAP2 TMEM240 ALG8 GJC2 MMACHC NDUFAF2 DAG1 PET100 NDUFV2 DARS2 TREX1 PHGDH GABRA5 BCAP31 COA8 LMX1B NDUFA9 NDUFA12 PURA NDUFAF6 HTRA1 GLUL NDUFS2 ZNF335 NDUFB11 SLC33A1 NDUFS3 KIDINS220 SMPD1 COX15 EIF2B1 TMEM106B NDUFA11 HSPD1 SHPK DPAGT1 RNF13 NDUFA10 GLRX5 SLC35A2 SCO2 TBCD MT-ND2 NDUFAF5 GTPBP3 TARS1 EXOC2 NDUFA13 FRMPD4 CTNNB1 FOXP1 PYCR2 HSD17B4 CLDN11 CLTCL1 NDUFA4 NDUFAF8 PIGU MED27 C2orf69 TUBB4A MT-ND3 ASPA PIGO NDUFS6 VPS33A MTTP SMG9 GTF2E2 NDUFA1 TXN2 ALS2 TBC1D24 AIMP1 TIMMDC1 KDM1A EIF2B4 ZC4H2 SDHA PEX16 PEX19 D2HGDH SLC1A4 NARS1 PPIL1 ADAT3 CSF1R NDE1 DYRK1A GABRA2 CDK19 IDUA PLEKHG2 NDUFB8 PRKDC HIKESHI DALRD3 TUFM COX6B1 ATP6V1A MCOLN1 MMUT EXOC8 EIF2B3 KARS1 NDUFB3 RMND1 CTC1 ECHS1 TMEM126B FUS HS2ST1 NMNAT1 HP_PROPORTIONATE_TALL_STATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROPORTIONATE_TALL_STATURE FIBP FOS CDKN1B NF1 AGPAT2 CDKN2C MEN1 CDKN1A PPARG CAV1 AIP BSCL2 DNMT3A CAVIN1 CDKN2B HP_ABNORMAL_PLACENTAL_MEMBRANE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLACENTAL_MEMBRANE_MORPHOLOGY TBC1D24 GLE1 LORICRIN POMP FERMT1 GJB2 SMARCAD1 ATP6V1B2 HP_CAESARIAN_SECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAESARIAN_SECTION CACNA1D ASXL3 PTCD3 OPA1 MCM4 CYP11B1 TAF1 SATB1 CYP11B2 POLR3A HP_PLACENTAL_ABRUPTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PLACENTAL_ABRUPTION HELLPAR FANCF CFI CFH CD46 HP_DEATH_IN_ADOLESCENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEATH_IN_ADOLESCENCE DSP PSMB8 MADD SATB1 PET100 COX8A EXOC8 HP_ABNORMAL_BLOOD_CHLORIDE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_CHLORIDE_CONCENTRATION CUL3 CLCNKB BSND CLCNKA KLHL3 WNK1 KCNJ1 SLC26A3 SLC12A1 MAGED2 WNK4 HP_FETAL_ULTRASOUND_SOFT_MARKER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FETAL_ULTRASOUND_SOFT_MARKER PSEN1 A2ML1 PTPN11 ENPP1 PEX6 RIT1 PIGL PEX11B GATA6 PSAT1 KRAS MYL9 HNRNPK EBP POR PEX1 NRAS RAF1 MAPT FANCF FANCB DMPK HOXD13 PGAP2 ALG9 C9orf72 TRAF7 MCTP2 PEX26 FOXF1 PIGV PACS1 TMEM106B CBL PEX3 TBCK KANSL1 RRAS PEX10 PEX12 SOS2 EFNB1 CHMP2B GRN PIGY CCDC22 HRAS BNC2 SOS1 SCARF2 WASHC5 ATP6V1B2 VCP TBC1D24 PIGN WT1 MKS1 PEX16 SLC35A2 PIGO GATA1 PEX5 SLC26A2 HSPG2 MRAS TRIP11 SQSTM1 PEX2 LZTR1 ABCC6 ZNF699 DPYSL5 PEX13 WNT3 TAPT1 RNU4ATAC OFD1 QRICH1 PEX14 TREM2 PIGW FGF13 RASA2 PEX19 RRAS2 DDX6 PGAP3 HP_MATERNAL_TERATOGENIC_EXPOSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MATERNAL_TERATOGENIC_EXPOSURE GDF1 TP63 IRF6 MED13L NECTIN1 MSX1 HP_ABNORMALITY_OF_COORDINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_COORDINATION PRDM8 SLC25A15 SATB1 MECR PDYN CACNA1A CEP290 ADGRG1 SEMA3A ERCC8 EIF2S3 PTPN22 DPM1 VPS51 ADGRV1 PNPLA6 ABHD5 MT-TK MT-TP SLC6A8 TCTN3 DNAJC6 GRID2 RTEL1 GABRB2 OPA1 STN1 CTNNA2 CEP41 FGF14 NKX6-2 MT-TS2 ATXN10 GABRG2 ZEB2 NEXMIF MT-ND1 KIF5A PIK3CA VLDLR TSHB ATXN7 ITPR1 FGF8 MT-ND4 INPP5E KCNA1 BCS1L POLR3B ANO10 NTRK2 TWNK TMEM70 SNRPN MT-ND2 TRAK1 ABCA7 TBP VARS2 KCNMA1 ALDH18A1 KBTBD13 ARCN1 PDHX VPS41 PLP1 ABCB7 MYO5A MAPK8IP3 TACO1 ERCC2 AFG3L2 MT-ATP6 CA8 NCF1 TMEM237 ELOVL4 SLC13A3 MT-TL1 MT-TE PUM1 WASHC5 AP2M1 ATCAY RFT1 RRM2B ERAP1 PROK2 CLCNKA DNAJC19 EIF2AK2 GJB1 PSEN1 LMNB1 UBA5 YWHAG SLC13A5 SLC2A1 MT-TF DMXL2 DNM1 SNAP29 AHI1 TK2 PPP2R2B NEU1 PLA2G6 SLC9A6 DCHS1 FBXL4 DMPK PRNP PGAP2 FKRP CAPN1 PET100 GBA ELN SACS SCN1A CHP1 ZNF142 TANGO2 EIF4H NDUFA12 HLA-DQB1 NDUFS3 NEFL SRPX2 WFS1 KIF1A GRIN2A FTL CYFIP2 NUP62 LYST MT-CO1 DNM1L GMPPB DEAF1 AARS1 SCN3A ARL13B NEB CISD2 PSAP TPP1 NHLRC1 GRM1 ABCA5 CLDN3 HNRNPH2 GJC2 ACOX2 IL10 SLC30A9 TIMMDC1 TBCD LARGE1 MYPN POLR1C TCF4 WWOX SMPD1 C9orf72 SDHB SPIDR ERCC5 PWAR1 HLA-DRB1 SPTA1 SUFU ARHGEF2 ATL1 CLN8 PPP3CA TREM2 MTTP SYT14 DLD GBA2 ABCC8 COX6B1 RTL1 GABRB3 TMEM270 OPA3 OGDH B9D1 PNP NMNAT1 TRAPPC11 FUS REPS1 MYD88 HS6ST1 RNASEH1 PTEN ATP1A3 SPTBN2 POU4F1 RTN2 SDCCAG8 COA8 RYR1 SIGMAR1 PRF1 MME CLCN4 C4A RFXANK AKT1 NDUFS1 BAP1 TMEM216 ATP6V0A2 KCNA2 FLVCR1 CPLANE1 TARDBP PRKCG SNAI2 MBD5 CEP104 MAG LAMA1 EED RNF113A METTL27 PRPS1 TH SOX10 HARS1 ARID1B WDR73 SH3TC2 TTC19 KCTD7 PPP1R15B HCN1 SCYL1 NADK2 MPDU1 PDP1 PIGS TUBB PDE6D XPA TBK1 RAD50 IQSEC1 PLEC POLR3A TRAF7 KDM4B ZNF592 RFC2 PIGW ATXN2 FOXP2 AAAS FGF13 MTRFR DDB2 PEX10 ARV1 NOTCH2NLC BOLA3 ATP1A2 MFSD8 PDE8B SQSTM1 PIGG AARS2 STUB1 FGFR1 TTN TBC1D24 SMAD4 MT-RNR1 SLC35C1 KCNB1 MAPT CLIP2 COG8 CSPP1 EPM2A POLG DKC1 SCN8A ATG5 COX10 SNAP25 OPHN1 NDUFAF6 FKTN ABCA2 DNAL4 AMACR COQ2 CACNA1B SCO2 SUCLA2 ARSA STAT3 ACO2 KATNIP TCTN2 SDHA ATXN8OS SLC6A19 ERCC6 PYCR2 ALG6 TMEM107 SURF1 MICU1 TMEM67 DHDDS VWA3B SLC1A3 NDNF B4GALNT1 ATAD3A SLC9A1 PEX7 TGM6 TINF2 MT-ND3 HACE1 TBC1D23 NDUFS6 PDE10A SYNGAP1 FGF12 ALS2 VWA1 BCKDHA SOD1 MOG MT-ND6 PDGFB SGCA GFPT1 BRAT1 NOL3 POU3F4 LZTFL1 NUS1 NDUFB8 CTDP1 NARS1 SZT2 NPHP1 KCNJ10 KARS1 TBCE FAT4 ATXN3 SLC4A1 MRE11 NF1 GTF2I CNTNAP2 TBC1D2B ATP7B L1CAM FOXI1 ARL6 ADAR TTR GALC PTS UROC1 SYNJ1 CCR1 SPG11 GLRA1 SPTBN1 TXN2 P4HA2 STXBP1 RFXAP SGPL1 DARS1 DLK1 NAXE ASL SLC16A2 MPV17 CLTC CHAMP1 ZNF423 SLC6A5 GABRA2 TACR3 CCDC141 RNF216 PYROXD1 PAX6 TOP3A CIITA PNPLA8 PDZD7 FMR1 CLCNKB MKS1 STAT4 CLCN2 RNASET2 LIPT1 SLC19A3 FOXRED1 CACNA1G MPZ PDCD1 FAT2 HUWE1 SCARB2 CEP120 CACNB4 SYNE1 DNAJC30 DYRK1A ELOVL5 SYT2 NPC2 TAT PEX2 ACTL6B APOB RARS1 CSTB PEX5 ATXN1 SLC39A4 COLQ CWF19L1 KIAA0586 BEAN1 ARL3 HADHA PURA UBTF ERCC1 PDE2A NUBPL BSCL2 GPAA1 SET PMPCA TMEM240 GRIA2 MT-TQ CSF1R PNKP SLC35A1 TCN2 DPAGT1 HERC1 TSPOAP1 NF2 HLCS ADSS1 SGCG FRMPD4 PIBF1 GAMT SMO SLC17A5 DCX PPT1 NDUFS2 AUH GCDH KCND3 TRPC3 INVS TUBB4A SLC7A6OS UBE3A GTF2E2 YME1L1 MICOS13 PEX6 MECP2 DNAJC5 PSEN2 MEG3 WDR19 ACOX1 SLC52A2 PEX16 PMP22 NFASC RUBCN ATP10A FEZF1 KIAA0753 STARD7 NOP56 NDUFAF5 ATN1 SLC5A7 CTC1 SPRY4 TDP2 CLRN1 RORA HTT MT-TS1 SPTB RPIA GTF2IRD1 KNSTRN NTN1 ASAH1 DKK1 SPEN CHCHD10 MFN2 NDUFS7 NUP107 DYM UBAP1 MEFV MTHFR ASS1 AP5Z1 POMT1 EPB42 PGM3 PEX26 MT-ND4L CTSH RNF168 CCDC28B MYO7A XRCC1 SDHD SPART PIGY NDUFA2 DOCK3 SHMT2 CRPPA MT-TH MTFMT DUSP6 LARS2 TTBK2 ANK1 OTC KCNC1 FGF17 FRMD4A PRICKLE1 HK1 IL12A-AS1 MED13L SMARCB1 NONO FHL1 APTX MRPS22 NDUFA6 NDUFB10 LNPK GPI COQ8A POGZ WHRN FIG4 SNCA SLC44A1 HSD17B10 ABCD1 AP3B2 SEMA6B PEX19 SAMD9L PITRM1 NAXD RDH11 MTPAP EEF2 PAK1 SCN1B AP1S2 ESPN POLR3H PMPCB TIA1 PEX1 NDUFA9 MAN2B1 LAT2 PHYH C19orf12 SORL1 BNC1 MSTO1 GLRX5 DEGS1 IFT140 PLD3 SARS1 COG5 HLA-B ALG11 TPM3 NEFH LIMK1 CP SLC19A2 CEP164 NDUFA4 CACNA2D2 SLC52A3 PIGT ATP8A2 ARX CPLX1 VAMP1 INS KIT C12orf4 NPAP1 GNB5 GDAP2 MT-TV NDUFB3 TMEM126B GMPPA DBT SNORD115-1 CC2D2A SARDH TOMM40 PDHB HERC2 SLC18A3 GRN SFXN4 ALG13 MMADHC ANOS1 DNMT1 PPP2R5D TERT CDK19 FAS VCP MAST1 IFRD1 GPHN MYO9A CEP78 POLG2 TECPR2 CNKSR2 SLC6A1 TUBB3 TDP1 PDGFRB SLC46A1 ERCC3 SLC25A46 TCTN1 SDHC CTBP1 CDKL5 NDUFAF3 MT-CO3 OTUD6B SLC1A2 NDN PEX3 NANS PAK3 ALDH5A1 ATPAF2 SIK1 COG4 GLB1 FA2H ERCC4 ZBTB11 RFX5 MT-TW ATP6V1A SLC25A1 RFC1 NDUFS8 COL6A3 RPGRIP1L BCL7B ATM AIFM1 CCDC88C MT-CYB PPP1R21 MT-ND5 IL23R DCC SUOX MPLKIP CYP27A1 HSD17B4 SIL1 WDR81 NSD1 CHAT GCK KIF1C SPR CAV3 FLRT3 APP PARN PDX1 TARS1 BUD23 NDUFA13 ATG7 VRK1 SNORD116-1 SLC18A2 EEF1A2 PMM2 APC IQCB1 SIM1 SCN2A ADPRS PLEKHG4 CAMTA1 NDUFS4 PWRN1 DPYSL5 PRRT2 ERMARD MAB21L1 PEX12 MKRN3 PIK3R5 GRIN2D ATP13A2 LRRK2 SCN9A MRPL12 MT-TI LAMB2 SLC20A2 NDUFV1 STIM1 ECHS1 CXCR4 RPL10 HIBCH UBAC2 AHDC1 PIGL ARMC9 PCNA NAGS ACD GABBR2 SLC30A10 EDNRB ATAD1 PIGQ HEXB ADSL NUP214 PGK1 STX1B EIF4G1 TELO2 NELFA CHD2 TPRKB LRPPRC GOSR2 MARS2 GABRD MYORG CTSF EZH2 FASTKD2 TLR4 CELF2 ACBD5 ROGDI VPS4A TRAPPC6B CPS1 ATP2B3 MVK NDUFAF2 NFIX KCNC3 AGTPBP1 DNAJC13 GABRA1 ELP1 XPC TAF1 GALT NKX2-1 ARSG P2RY11 USF3 PEX13 NR5A1 NDUFAF1 PDHA1 SLC25A22 NEMF TPM2 RAB11B VPS13D NGLY1 SPAST GCLC DGUOK ABHD11 DLL1 ALG8 MMACHC GSS CDH23 DARS2 PCDH15 NTNG1 NEUROD2 SYT1 LMBRD1 MT-CO2 MT-TN MBTPS2 DLAT STX1A SETX GABRA5 PAFAH1B1 COL12A1 CLN6 NDUFA10 AASS NDUFV2 KCNJ11 MT-ATP8 FRRS1L WARS2 SETD2 NDUFAF8 COA7 NAT8L IL12A TRIO PI4KA WDR11 MLC1 KCNQ2 GTF2IRD2 CLTRN PMP2 RNF125 CTSD TMEM231 ERBB3 DNAJC3 VPS37D PODXL DHFR OXR1 SLC22A5 USH1G SNX14 SPG7 CAV1 CUL4B RAD51 GBE1 MAN1B1 LMNB2 GCH1 ATP6AP2 USH2A DHX30 RTN4IP1 ZFYVE26 CAPN3 SUMF1 PRODH COQ5 PIGP TBL2 NPHP4 GIGYF2 CBY1 KLLN CLN5 BCKDHB CARS1 SLC26A4 CASK NPC1 BBS1 CYP7B1 TRAF3IP1 ALMS1 COL13A1 SRD5A3 RAI1 ACADM EPRS1 CRAT GSN NDUFB9 RIPK4 HESX1 KLHL41 DAB1 GTF2H5 HIC1 TNFSF4 ITM2B PSMC3IP FSHR GABRB1 TRIM8 SLC25A42 TMEM138 NDUFAF4 COX20 SDHAF1 TTPA BSND OCA2 HEPACAM ETHE1 GJA1 COX15 ACTA1 JAM2 PARS2 TSFM TGFB1 PIK3CD PIGK KIF7 HPDL CREBBP XRCC4 NDUFA1 HAX1 RNU12 SLC2A3 VPS35 HCRT PANK2 IRF2BPL LETM1 UCHL1 AFF2 INPP5K EP300 COL6A1 BTD NSD2 TENT5A OFD1 BMPR1B ZNF365 KLRC4 HYLS1 PIGV NUTM2B-AS1 COL6A2 PROKR2 TRNT1 RIMS2 ARG1 DNASE1L3 TERC GLS APC2 SNORD118 POLR3K VPS13A HADHB CHD7 NECAP1 DYNC1H1 TCF20 PIEZO2 LYRM7 WDR26 CDC42 GNAO1 GFAP TMEM63A USH1C SLC12A3 YWHAE COL18A1 ADA2 FXN LONP1 TANC2 PEX14 GLRB FAM149B1 UQCRQ HINT1 SLC25A4 MAGEL2 GTPBP2 NPHP3 ALG2 PGAP3 KDELR2 POMT2 ALG14 MCOLN1 FUZ IL17RD HTRA1 NDUFB11 TMEM106B AGRN NDUFA11 SMARCE1 MLXIPL TPK1 TUBB2B ATP5MK SMC1A PEX11B KIF1B BAZ1B ABHD12 HMGCL FDXR PIGO EBF3 SEC23B TUBA1A PTRH2 PCDH19 BMP15 THG1L CIB2 HLA-DQA1 FKBP6 CLDN4 HIKESHI DALRD3 ACAT1 GEMIN5 LAGE3 MTR LRP12 HP_ANKLE_CLONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANKLE_CLONUS FA2H ERLIN2 ATL1 POU3F4 KIF1A SLC39A14 RAB18 CARS1 ADGRG1 SLC16A2 SLC52A3 SYNE1 RTN2 FGF13 ATP6AP2 GALC KIF5A GBA2 PIGT UCHL1 SPG11 SPAST ZFYVE27 TIMM8A SELENOI SPART CYP7B1 SAMD9L CAPN1 HTT GFM2 PSAP SOD1 ABCD1 STUB1 ANO10 REEP1 HP_KNEE_CLONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KNEE_CLONUS SLC52A3 RTN2 SPART GBA2 KIF5A SPG11 HP_PRIMARY_MICROCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMARY_MICROCEPHALY TXN2 TBL1XR1 AFF3 SMC3 LMNB2 GRIN2A FIG4 TELO2 RNF2 ZEB2 SLC16A2 PSAT1 VPS4A TBCD FRMD4A MECP2 TRIO NSF SPATA5 NDE1 PHGDH SPOP NUP188 EIF5A PPP1R15B VAC14 DISC1 CTNNB1 EOMES CLPB TUBB3 PIGH TRMT10A TRAPPC12 RBBP8 SLC1A4 RELN TSEN54 HP_FUNCTIONAL_ABNORMALITY_OF_THE_MIDDLE_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FUNCTIONAL_ABNORMALITY_OF_THE_MIDDLE_EAR SDHD PROM1 KMT2E CCDC32 HDAC8 B3GALT6 ALX3 CFAP221 ERF PCARE FBN1 GJA1 PTPN22 MYCN AMMECR1 VHL RAB23 TCTN3 MMP23B OFD1 WDFY3 ERCC8 ARSL SH2B1 TSHZ1 SGMS2 FGFR3 IDH3B NOG ANKH TP63 FAM20C TXNL4A DNAJB13 SPEN MAN2B1 P4HA2 CDH1 GDF6 ZNF469 SDHB DIAPH3 FLNB FREM2 GRIA4 SC5D COL11A2 SLITRK6 EYA1 GRHL3 ODAD1 OTOF ACTL6B KCNMA1 RSPH3 KIAA1549 IDH3A EP300 SAG TNFRSF11A RGR PRPF31 SDHC CREB3L1 GRIP1 HUWE1 CCDC39 CRX NOTCH3 BPTF RERE PRKCZ PRPH2 IMPG2 PTPN23 TOPORS UBR7 GUCA1B FAT4 SALL4 COL1A2 IGBP1 ZNF699 IFT88 DNAH11 EFTUD2 ELMOD3 FGFRL1 CFAP300 LMNA COL2A1 EXT1 CPLX1 MAX GAS8 REEP6 HPDL SPATA7 CNGB1 ARHGEF18 HNRNPK SEMA4A DNMT3A BCORL1 MSX1 KDM4B SRCAP PSMD12 DHODH FKBP14 FGF9 FLNA DNAH5 RPGR AGO2 CNOT1 RAD21 ROM1 RECQL4 MDH2 JARID2 SEC24C SIX1 SPECC1L FANCI POLR1D COMT RPS23 HOXA2 GMNN RSPH4A ARL3 ZMIZ1 DVL1 JMJD1C DCHS1 DNAAF2 FGFR2 POR WASF1 ARL6 DNAH9 UBB NSD1 ARHGAP29 GSC USH2A PDE6G NIPBL KMT2D DNAAF4 TTC12 CRB1 TULP1 MAK SMCHD1 ZBTB20 SVBP AFF4 TANC2 CCDC65 SETD2 MED27 UBE4B MYH3 CNGA1 PORCN POLR1B FSCN2 KIF1B BRD4 EDN1 CDCA7 DHX38 DNAI1 EDNRA NEK10 CNOT3 HIRA KLHL7 TCF20 RPS26 CREBBP FGF10 TBX1 KIF7 ABCC6 KAT8 HSPG2 KIZ TTC8 RLBP1 RPE65 ODAD3 CPLANE1 AMER1 HAX1 DNAAF3 AIFM1 DOCK3 PRPF6 RET SKI EPAS1 FH KDM6A RDH12 POLR1C CFAP418 TUB PRPF4 CHRNG ARVCF SLC25A11 MAP3K7 KIAA0753 RP2 RBP3 SDHAF2 FAM161A RREB1 EIF5A TRMT1 TRAPPC4 POMGNT1 SATB1 FBXW11 PDPN LRRC56 NF1 MADD TENT5A MYT1L TFAP2A LONP1 RPS28 GJB2 CDH11 BMP2 CA4 ODAD2 ARL2BP RAI1 DEAF1 SLC25A24 NTNG1 FLII IRF6 PDE6A ELMO2 NSD2 BMP4 IDS EYS PGM3 TCOF1 TELO2 PRPF3 ALX1 SLC12A2 DHDDS TMEM127 CCNO DRC1 APC2 PRCD IMPDH1 MEOX1 MASP1 TMEM67 ARID2 NFIX NR2E3 PDE6B DLX4 RHO CHD7 SPEF2 PAX1 TSR2 HS2ST1 HDAC4 PUS7 BBS2 HLA-DRB1 NEK1 DLST PDE6D ZMPSTE24 ADAMTS3 PRRX1 RP9 LUZP1 RLIM ACTL6A TRPS1 ZNF408 MAPK8IP3 RSPH1 SCAPER RP1 FAM149B1 B3GLCT PIGL CERKL AGBL5 NME8 NOTCH2 NECTIN1 SNRPB ODAD4 DNAAF11 CFAP298 HYDIN SLC7A14 PALS1 ABCA4 SOST KDELR2 CTBP1 ENPP1 GNPTAB DNAH1 SLC35C1 SEMA3E FANCF PCGF2 LRAT MCIDAS LETM1 IFT172 TBX22 LRP5 CCBE1 STAC3 DNAAF1 MBTPS2 KCNAB2 CTNND1 ACVR1 PRPF8 DDR2 TMEM216 TRIP12 HGSNAT NRL IFT140 FOXJ1 AHI1 NOTCH2NLC SPAG1 ZMYND10 HLA-B CDHR1 BEST1 ZNF513 ANKRD11 IQSEC2 DNAL1 FRAS1 GAS2L2 SF3B4 PRDM5 GDF5 DNAI2 DPYSL5 ERCC6 DNAAF6 GATA1 DDX6 MERTK UFD1 MED13 CLRN1 SNRNP200 NEK2 PIK3C2A CASZ1 AHR RSPH9 PRDM16 SMC3 NTNG2 GALNT2 CCDC40 CCDC103 SMC1A GP1BB RP1L1 SDHA POU3F4 DNAAF5 OSTM1 HTT DLG1 TWIST1 TNRC6B GABRD GJB6 STK36 HP_LOSS_OF_EYELASHES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOSS_OF_EYELASHES UROS RNU4ATAC GATA1 UROD LMNA ZMPSTE24 HP_ESOPHAGEAL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESOPHAGEAL_CARCINOMA CTHRC1 TGFBR2 RHBDF2 DCC APC MSR1 DLEC1 WWOX STAT1 LZTS1 RNF6 ASCC1 HP_FETAL_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FETAL_ONSET FARSB LMOD1 RIPK4 MYH11 MCM10 COX16 KIDINS220 SOS1 KIF20A OBSL1 KIF5C PPP1CB RPL10 RNF2 MKS1 DCC FARSA TOGARAM1 XYLT1 ACTG2 KIAA0753 KDELR2 SDHD HP_YOUNG_ADULT_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_YOUNG_ADULT_ONSET CPOX PSAP ELMOD3 SPAG17 XRCC2 LGI1 ATP13A2 COCH SOCS1 GGCX SLC4A11 VPS16 CCDC39 SLC7A6OS MAGT1 TNNI3 CASQ2 HAMP LMX1B ATP1A3 NPC1 IKZF1 GIPC1 ALDH5A1 MEFV TNFAIP3 KNG1 CATIP PRKAG2 IL36RN MAPT CD164 CYLD LMNA SPRY2 HJV MCM6 CEP78 TIA1 PRKN CASR ABCA4 ICOS LYST SLC19A3 NOTCH2NLC FBXO7 SLCO2A1 EPAS1 TIE1 PLG SH3BP2 RYR2 TRDN VSX1 LMF1 MICAL1 EIF2AK4 RELN ACTG1 FBN1 LRP12 HP_CHILDHOOD_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHILDHOOD_ONSET PHKG2 PET117 CD19 FCHO1 SOCS1 TBC1D2B LACC1 CRB1 PITRM1 VPS16 FECH CASQ2 KIF3B PGAP1 OCRL ACSL4 FANCB IKZF1 ATP6AP1 SVIL FGD4 ZNF711 KIRREL1 TMEM240 COL9A2 RPS29 DDB1 MEFV TNFAIP3 GCH1 NLGN3 ADGRV1 PRKAG2 CNP WT1 COA8 NBEA MARCHF6 F2 UPF3B NUP133 TBCE GUCY2D PRPS1 TPP2 RTN4IP1 DARS1 IMPG2 TRNT1 ARG1 CLCN1 FLVCR1 ICOS IDH3A GNB2 HPDL TIMM8A SAMD9 NLRP3 TACO1 SPART ALAS2 TMPRSS3 EMC10 RYR2 IKBKB SMPX BAAT MYH7 UFSP2 DBR1 F13A1 IL21R GDAP1 STXBP2 CHD2 DMD STAT3 LAMA2 COL1A2 NUS1 PSMB8 COPA AQP5 DPAGT1 CFB NLGN4X MTX2 PIK3CD SYNE2 HABP2 VPS37A EMD FRG1 GABRG2 CCDC39 PLEKHG5 SNRPN PYROXD1 PMP22 PLCG2 PLA2G6 PRNP STX11 KDELR2 SCN1A ALS2 PNKD REST CARMIL2 TPM2 TRDN ATP6V0A4 MS4A1 UNC45B VPS41 COL1A1 FLG CUBN HAX1 ALDH5A1 PLEKHM1 NDUFC2 ACP5 PLCE1 VWA1 FCGR2A GJB2 IL36RN PROM1 CFTR PEPD RYR1 ADA2 DYNC1H1 MECP2 KCNB1 MCM6 CEP78 GPR101 MTHFR TGFB1 CASR AIRE CYP3A4 AAAS NFKB2 ABCA4 XPC SPG11 SLC19A3 SYNE1 CHRNA4 ITK TTN LIMS2 SH3BP2 MMP2 TACSTD2 SCN3A POLA1 GEMIN5 SETD1A CPA6 DAAM2 NEMF DIAPH1 HP_APLASIA_HYPOPLASIA_OF_THE_GALLBLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_GALLBLADDER CNOT1 GATA6 SPECC1L FOXF1 SON RFX6 INTU HP_FACIAL_TICS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FACIAL_TICS CACNA1A GABRG2 SCN1A KCNQ3 STXBP1 KCNQ2 GABRA1 SCN2A ATP1A2 PRRT2 SCN9A SCN1B PCDH19 HP_NASAL_REGURGITATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NASAL_REGURGITATION TOP3A VAMP1 GRHL3 UBB SNAP25 SLC25A1 CHAT AGRN TUBB6 SLC18A3 SLC5A7 COL13A1 SYT2 MYO9A HP_NASOGASTRIC_TUBE_FEEDING_IN_INFANCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NASOGASTRIC_TUBE_FEEDING_IN_INFANCY TPM2 HACD1 DYRK1A CLTCL1 ACTA1 SATB2 KANSL1 GPT2 TPM3 TRMU GALC TFG HNRNPK NALCN PDE10A MAP3K20 DMPK SNRPN COL2A1 EDEM3 MT-TE PIGT CTCF COX8A UNC80 GRM7 PUF60 GFM2 PSAP SELENON BRAF EP300 CREBBP MYL2 ITGA7 HP_GASTROSTOMY_TUBE_FEEDING_IN_INFANCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROSTOMY_TUBE_FEEDING_IN_INFANCY SEPSECS DLL1 SCN1A FOXH1 GNPTAB GAS1 SHH MBD5 TDGF1 DNM1L STAG2 PIGL PTPN23 CDON SMC1A PTCH1 PSAT1 MYO1H DCHS1 PDHA1 TGIF1 DPM1 PRPS1 RTL1 ZIC2 PGAP1 COQ2 GLI2 PGAP2 SPOP SIGMAR1 CHAMP1 EPB41L1 COL2A1 DEAF1 C2CD3 BRSK2 FGF8 CLTC PIGV NODAL KCNQ5 NBEA KRT5 HIVEP2 CAMK2B ITCH BRAF KDM5B CIC SIX3 DISP1 TBCK TOR1A AFF4 CDH15 PPP2R1A DEGS1 CACNG2 TAOK1 FGFR1 KIRREL3 MTRFR TRIP4 MGAT2 PIGY ASH1L SYNGAP1 RAB11A CSNK2B ZMYND11 SPG11 TRPM3 TRAPPC12 KLHL40 MYT1L PDSS2 SPTBN4 WDR26 STXBP1 KRT14 EEF1A2 RNF13 PIGU KIF1A PIGO SON TRIO LRPPRC GRIN2B ALS2 MEG3 PNPT1 ADNP RALGAPA1 GRIN1 SET ASPA ALG12 SLC1A4 SETD1B TCF4 YY1 MED12L CUX1 CLN8 LONP1 TSEN15 FDFT1 PIGW DOCK8 COL7A1 BLM UBTF TSEN2 SPATA5 DALRD3 PPP3CA UGDH SETBP1 TSEN54 COG5 SCN3A DYNC1H1 TSEN34 DLK1 FUS CLCN6 PGAP3 CAMK2A FAT4 SLC5A6 HP_ABNORMALITY_OF_SMALL_INTESTINAL_VILLUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SMALL_INTESTINAL_VILLUS_MORPHOLOGY EPCAM SKIV2L ALG3 FOXP3 PERCC1 UNC45A TTC37 NLRC4 ALG9 STX3 PCSK1 DGAT1 STAT1 WNT2B LRBA RFX5 SYK MYO5B RFXANK CIITA SPINK5 RFXAP IL2RA ADAM17 MPI HP_CHILDHOOD_ONSET_SENSORINEURAL_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHILDHOOD_ONSET_SENSORINEURAL_HEARING_IMPAIRMENT ATP2B2 SARDH SETBP1 NDE1 RIPOR2 CDH23 IGF1 COCH TK2 GIPC3 MARVELD2 ESPN TIMM8A HGF IARS2 ADCY1 HP_PROFOUND_SENSORINEURAL_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROFOUND_SENSORINEURAL_HEARING_IMPAIRMENT MYO15A RDX KARS1 PRPS1 SLC12A2 CIB2 KCNE1 PMP22 KCNQ1 FGF3 HP_ABNORMAL_LACRIMAL_PUNCTUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LACRIMAL_PUNCTUM_MORPHOLOGY FGFR3 UBR1 TP63 FGF10 FOXL2 FGFR2 HP_ABNORMAL_LACRIMAL_DUCT_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LACRIMAL_DUCT_MORPHOLOGY FRAS1 SIX1 PAX1 GRIP1 TFAP2A FREM1 TP63 NOP10 KNSTRN CREBBP NDUFB11 PIK3CD CD151 PPP1CB FGFR2 NHP2 FGFR3 IGSF3 SOX6 YY1 SIX5 SMC3 FGF10 FOXL2 SMCHD1 COL3A1 PTDSS1 TAF1 FREM2 EYA1 TET3 EP300 KAT6A TCOF1 PAX3 HP_ABNORMAL_LACRIMAL_GLAND_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LACRIMAL_GLAND_MORPHOLOGY FGFR3 FGF10 FOXL2 HLA-DRB1 FGFR2 BTNL2 SOX10 SLC25A24 HP_ANTERIOR_SYNECHIAE_OF_THE_ANTERIOR_CHAMBER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTERIOR_SYNECHIAE_OF_THE_ANTERIOR_CHAMBER OVOL2 FOXC1 PAX6 ZEB1 PITX2 GRHL2 CYP1B1 COL18A1 VSX1 FOXE3 COL8A2 HP_POSTERIOR_SYNECHIAE_OF_THE_ANTERIOR_CHAMBER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_SYNECHIAE_OF_THE_ANTERIOR_CHAMBER LCA5 LRAT SPATA7 CYP1B1 ATOH7 MIR204 FOXE3 RPE65 HP_ABNORMALITY_OF_CORNEAL_THICKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CORNEAL_THICKNESS ABCA4 PCYT1A CHRDL1 PROM1 LMX1B CRX AP1B1 NMNAT1 KCNJ13 PCARE CA4 ARL2BP ARL3 USP45 SLC2A10 ARL6 RPE65 LRAT CEP290 PDE6A OFD1 ANTXR1 GUCY2D USH2A PIEZO2 GDF6 IFT172 SLC4A11 ZNF469 PDE6G IDH3B COL3A1 CRB1 EYS TULP1 MAK PRPF3 PRPF8 DDR2 HGSNAT SPATA7 DHDDS NRL IFT140 AHI1 CNGA1 PRCD FSCN2 IMPDH1 FGFR3 AIPL1 DHX38 HRAS RPGR MIR184 CDHR1 RPGRIP1 PLOD1 BEST1 NR2E3 KLHL7 ZNF513 KIAA1549 PDE6B IDH3A SAG RHO RGR FGF10 PRDM5 PRPF31 NR2F1 KERA PRPH2 IMPG2 KIZ TTC8 MERTK GNB5 TOPORS BBS2 CLRN1 SNRNP200 RLBP1 GUCA1B DCN NEK2 AHR IQCB1 IFT88 FGFR2 RDH12 RP9 PRPF6 RP1L1 CHST6 REEP6 CFAP418 TUB PRPF4 ZNF408 CNGB1 ARHGEF18 SCAPER RP1 RD3 SEMA4A RP2 CERKL AGBL5 RBP3 FAM161A VSX1 POMGNT1 LCA5 SLC7A14 ROM1 HP_INCREASED_CORNEAL_THICKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CORNEAL_THICKNESS FGFR3 SLC4A11 DCN FGFR2 FGF10 HP_ABNORMAL_CORNEAL_ENDOTHELIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CORNEAL_ENDOTHELIUM_MORPHOLOGY LCA5 OVOL2 LRAT FOXC1 PAX6 CYP1B1 ZEB1 PITX2 VSX1 GRHL2 RPE65 COL8A2 SPATA7 SLC4A11 KCNJ13 FOXE3 HP_ABNORMAL_DESCEMET_MEMBRANE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DESCEMET_MEMBRANE_MORPHOLOGY OVOL2 FOXC1 PAX6 CYP1B1 ZEB1 PITX2 GRHL2 COL8A2 SLC4A11 VSX1 KCNJ13 FOXE3 HP_REDUCED_NUMBER_OF_CORNEAL_ENDOTHELIAL_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_NUMBER_OF_CORNEAL_ENDOTHELIAL_CELLS OVOL2 ZEB1 VSX1 COL8A2 GRHL2 HP_ABNORMALITY_OF_CORNEAL_STROMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CORNEAL_STROMA CHRDL1 LCAT PITX2 WDR73 LIFR NTRK1 GRHL2 SLC4A11 SREBF1 FOXE3 SMARCAL1 PEX1 ESCO2 ERCC5 ANKRD55 OVOL2 SC5D RAB23 PTPN2 GNAS B4GAT1 GJB2 OCLN KRAS SLC29A3 TRPV3 ZEB1 IL2RA APOA2 APOB GHR CTNS GALNS CTSA GNPTAB TRAPPC2 TGFBI JAG1 GNPTG VSX1 EPHX2 CHST6 APOE ERCC8 GLB1 PITX3 COL8A2 MBTPS2 CYP1B1 ALDH18A1 PSMB8 NLRP3 PEX2 PAX6 FOXC1 ABCA1 IL2RB KERA SOS2 VSX2 CYP4V2 PEX5 RIPK4 LIPC ERCC3 WT1 XPA PPP1R17 COL18A1 SLC4A4 ARSB NOD2 STS CD247 LDLR ERCC4 ERCC2 XPC GBA IDUA POMGNT1 STAT4 KRT12 DDB2 PTPN22 NAGA LZTR1 NDP ASAH1 MCOLN1 ERCC6 MMP2 UBIAD1 PCSK9 AIRE HP_CENTRAL_OPACIFICATION_OF_THE_CORNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_OPACIFICATION_OF_THE_CORNEA PTPN22 ANKRD55 FOXC1 PAX6 PTPN2 GNAS PITX2 IL2RB CD247 TGFBI COL18A1 JAG1 SLC4A4 OVOL2 CYP1B1 IL2RA NOD2 FOXE3 STAT4 HP_ABNORMAL_CORNEAL_EPITHELIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CORNEAL_EPITHELIUM_MORPHOLOGY CERS3 IARS2 NTRK1 UBAC2 ALOX12B UROS NGLY1 SLC35C1 IL23R ALDH3A2 SREBF1 HLA-B PRDM12 FGFR2 GJB6 ERCC5 WAS MPLKIP TAT ERCC2 MBTPS2 GJB2 MEFV ELP1 CCR1 KLRC4 COL4A3 ZEB1 ERCC8 C4A FAS CTNS TGFBI BTNL2 PLEC TP63 NIPAL4 COL7A1 ZNF469 NLRP1 NOD2 HLCS FOXC2 FGFR3 CHST6 TARS1 FERMT1 MPV17 COL4A4 ABCA12 LBR RNF113A IL6ST DDB2 TLR4 PLCG2 NLRP3 SCN9A COL17A1 POLH FGF10 PRDM5 EPCAM PAX6 CLTCL1 IL10 ERCC6 IL12A WIPF1 KRT3 IKBKG GTF2E2 COL4A5 RIPK4 GATA1 ERCC3 SLC39A4 WT1 XPA ZMPSTE24 STAT4 MAB21L1 COL4A6 IL12A-AS1 LMNA HLA-DRB1 TGM1 SPINT2 MMP1 FBN1 KIFBP ERCC4 RNF125 MTTP CRLF1 XPC AIRE IKZF1 GSN UROD PNPLA1 ERAP1 AEBP1 TWIST2 GTF2H5 ALOXE3 HP_CORNEAL_NEOVASCULARIZATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORNEAL_NEOVASCULARIZATION TBX1 SEC24C PAX6 NGLY1 NLRP1 DDR2 ARVCF COMT SREBF1 GJB2 JMJD1C GJB6 UFD1 FGFR3 CYP1B1 RREB1 ERCC2 WT1 FGFR2 HIRA COL4A1 GP1BB FGF10 HP_MYDRIASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYDRIASIS SF3B1 ACTA2 SLC1A3 MYH11 CACNA1A PEX10 BAP1 ATP1A2 CYSLTR2 GNAQ ATP1A3 MYL9 LOXL1 GNA11 HP_BULL_S_EYE_MACULOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BULL_S_EYE_MACULOPATHY PROM1 ABCA4 VPS13B TMCO1 MFSD8 RIMS1 RAX2 HP_CYSTOID_MACULAR_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYSTOID_MACULAR_EDEMA RHO RDH5 PDE6G PRPH2 ARHGEF18 ARL3 KIAA1549 DHDDS RP1L1 MFRP HLA-A RLBP1 IDH3A NOD2 REEP6 CYP4V2 POMGNT1 PRPF8 HP_CHOROIDAL_NEOVASCULARIZATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOROIDAL_NEOVASCULARIZATION XYLT1 CFHR3 APOE HMCN1 ABCC6 C1QTNF5 ENPP1 FBN2 CFHR1 FBLN5 CFI TIMP3 PRPH2 XYLT2 HLA-A MAPKAPK3 CFH FBLN1 EFEMP1 AGXT HP_MACULAR_HYPERPIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULAR_HYPERPIGMENTATION ADAR PAX2 CRX CFH EFEMP1 CFI HP_DRUSEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DRUSEN XYLT1 C1QTNF5 CFHR2 CFHR3 IFT172 CFHR1 PRPH2 RPE65 ABCC6 XYLT2 SPATA7 CFH ESPN GUCY2D LCA5 LRAT APOE HMCN1 TMEM98 IMPG1 ALMS1 FBLN5 CFI MFRP GUCA1A EFEMP1 CTNNA1 HP_HYPERPIGMENTATION_OF_THE_FUNDUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPIGMENTATION_OF_THE_FUNDUS APC EFEMP1 POU3F4 MUTYH CFI CAPN5 CFH HP_ACHROMATOPSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACHROMATOPSIA ATF6 CNGB3 GNAT2 CNGA3 NBAS HP_ANOMALOUS_TRICHROMACY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANOMALOUS_TRICHROMACY OPA1 OPN1SW OPA3 C1QTNF5 OPN1LW OPN1MW NR2E3 GUCY2D DNM1L HP_ABNORMALITY_OF_LENS_SHAPE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LENS_SHAPE RHO COL4A5 RDH5 PRPH2 COL4A3 COL4A4 ERCC6 OCRL RLBP1 ERCC8 COL4A6 LAMB2 HP_VITRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VITRITIS RB1 COX7B NDUFB11 HLA-A HCCS HP_ABNORMAL_ATRIAL_ARRANGEMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ATRIAL_ARRANGEMENT SPEF2 DNAI2 CCDC39 GDF1 CFAP221 DNAH1 NODAL ODAD2 RSPH4A DNAAF6 DNAAF2 ODAD3 DNAH9 RSPH9 PKD1L1 MCIDAS DNAH11 DNAAF3 CCDC40 CCDC103 DNAAF4 TTC12 DNAAF1 GAS8 DNAJB13 CFAP300 RSPH1 DNAAF5 CCNO DRC1 CCDC65 FOXJ1 OFD1 SPAG1 CFC1 ZMYND10 DNAI1 NME8 NEK10 ODAD1 DNAH5 ODAD4 RPGR RSPH3 DNAAF11 CFAP298 LRRC56 HYDIN DNAL1 STK36 GAS2L2 HP_ABNORMAL_CONNECTION_OF_THE_CARDIAC_SEGMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CONNECTION_OF_THE_CARDIAC_SEGMENTS GDF1 NR2F2 TBX1 GTF2I ARHGAP31 SIX3 STRA6 HIBCH CFAP221 RBPJ BMP2 EOGT ODAD2 GTF2IRD1 ALX3 PTPN22 FGFR1 JAG1 FANCB DDX59 RAB23 STIL GATA4 GLI2 MMP23B ESS2 MCTP2 FOXF1 NOTCH2 ZIC2 BCOR ZIC3 MYRF GATA5 DNAJB13 SPEN P4HA2 SLX4 ALX1 ZEB2 RBM8A CCNO DRC1 ZFPM2 RRAS2 NKX2-5 GATA6 TGIF1 DPF2 FLT4 ODAD1 NXN METTL27 TBL2 GPC4 SEMA3E RFWD3 ARID1B RSPH3 PIGL DGCR8 FGF8 ERCC4 ATP6V1B2 NKX2-6 CHD7 SPEF2 SMARCB1 OTUD5 CCDC39 PIGN XRCC2 TBX2 FIG4 SALL1 CDON RERE PRKCZ SLC35A2 HLA-DRB1 SHH SALL4 FOXH1 VAC14 SPECC1L DNAH11 ROR2 GPC3 SH3PXD2B PQBP1 RBM10 ZMPSTE24 LUZP1 INTU GJA5 GAS8 NCF1 FANCC RFC2 NODAL SMARCC2 RSPH1 PUF60 DNAJC30 UBE2T TTC37 PAH DISP1 SRCAP RAD51 SMARCD1 NME8 CHUK UBE2A BCL7B DNAH5 ODAD4 RPGR DNAAF11 CFAP298 GAS1 HYDIN ARID1A MAD2L2 CACNA1C CRELD1 CCNQ SEC24C SOX4 BICRA ARID2 RAI1 CFAP53 COMT DNAH1 EIF2AK3 RSPH4A NOTCH1 RPL5 JMJD1C DNAAF2 COX7B BRCA2 CLIP2 FANCE ABHD11 NID1 DNAH9 PKD1L1 EHMT1 TRAF7 MCIDAS MEGF8 DGCR2 ELN NADSYN1 SMARCE1 DNAAF4 FANCI EIF4H TTC12 GJA1 LAT2 DNAAF1 STX1A KCNAB2 GJA8 CITED2 RPL11 CFAP300 FANCA TMEM94 CCDC65 TMEM260 FOXJ1 MED13L UBE4B SPAG1 SMARCA4 FANCL CHRM3 ZMYND10 BUD23 DGCR6 CCDC22 DNAI1 LRRC56 HLA-B NEK10 HIRA STAG2 DACT1 LIMK1 CLDN3 DNAL1 WASHC5 SKI MMP14 GAS2L2 SF3B4 TBC1D24 BAZ1B SKIV2L DNAI2 WT1 DNAAF6 HSPG2 DLL4 UFD1 RNU4ATAC ODAD3 CASZ1 RSPH9 PRDM16 MMP21 PTCH1 DNAAF3 CCDC40 CCDC103 ZNF462 GTF2IRD2 GP1BB PEX19 QRICH1 DDX11 FANCF MKKS PHGDH FKBP6 ARVCF PLXND1 TDGF1 DNAAF5 CHD4 CLDN4 LMNA FOXC2 DOCK6 VPS37D FANCG MLXIPL OFD1 CFC1 DLL1 RREB1 FKTN TAB2 BRCA1 TMEM270 BRIP1 FANCD2 CDK8 GABRD PDPN MMP2 CXCR4 FANCM PALB2 SOX11 SUFU STK36 BRAF RAD51C HP_ABNORMAL_ATRIOVENTRICULAR_CONNECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ATRIOVENTRICULAR_CONNECTION CCNQ NKX2-5 ZIC3 NOTCH1 MMP21 MCTP2 GJA1 NODAL HP_COMMON_ATRIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMMON_ATRIUM CRELD1 NR2F2 ZIC3 EVC GATA6 PRKACB GDF1 EVC2 MMP21 WT1 GATA4 HP_ABNORMAL_BRANCHING_PATTERN_OF_THE_AORTIC_ARCH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRANCHING_PATTERN_OF_THE_AORTIC_ARCH WDR26 FLT4 CRELD1 DGCR6 NKX2-6 STRA6 EP300 ACVR2B DNAH1 CREBBP MMP21 WT1 PLXND1 ESS2 DGCR2 TBX1 GDF1 DGCR8 PIK3R2 TMEM260 HP_DOUBLE_AORTIC_ARCH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DOUBLE_AORTIC_ARCH TBX1 FLT4 DGCR8 DGCR6 ESS2 DGCR2 HP_CONGENITAL_MALFORMATION_OF_THE_GREAT_ARTERIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_MALFORMATION_OF_THE_GREAT_ARTERIES NR2F2 GTF2I SIX3 CFAP221 KCNJ8 ALX3 HPGD PTPN22 FGFR1 FANCB MYCN AMMECR1 DDX59 RAB23 KANSL1 MMP23B MCTP2 C2CD3 GLI2 ARSL UBR7 DHCR24 ZIC2 TGFB2 MYRF ARF1 GATA5 DNAJB13 SPEN P4HA2 MAP2K1 SMAD3 ZEB2 RBM8A WDR37 MRPS16 NKX2-5 PLAGL1 ODAD1 GATA4 CSGALNACT1 NXN TBL2 GPC4 RFWD3 RSPH3 HEY2 EP300 ERCC4 NKX2-6 MYLK OTUD5 CCDC39 PIGN FIG4 NOTCH3 MKS1 CDON RBP4 IGBP1 RERE PRKCZ ACTB SLC35A2 TFAP2B TMTC3 SUCLG1 PORCN SHH SIK3 SALL4 NFIX RSPRY1 FOXF1 STXBP1 LARS2 FOXH1 PPP1CB CALM3 VAC14 ZNF699 DNAH11 CTCF ROR2 GPC3 TRIP11 DVL3 EXT2 PQBP1 GJA5 COL18A1 GAS8 NCF1 MEGF8 DPM1 HYMAI FLNA NODAL SMARCC2 PUF60 DNAJC30 SALL1 NEDD4L DISP1 SRCAP BCR FKBP14 FGF8 CHD7 UBE2A BCL7B DNAH5 PTEN RPGR NEK8 TALDO1 GATA6 CACNA1C SMAD4 CRELD1 SEC24C TBX1 BICRA ARID2 SPECC1L SOX2 GDF1 POLR1D COMT EIF2AK3 RSPH4A INTU JMJD1C DNAAF2 BRCA2 YY1AP1 MYH11 DYRK1A DNAH9 NSD1 TRAF7 ELN ARID1B NADSYN1 ASCC1 NOTCH2 DNAAF4 EIF4H LMX1B TTC12 PACS1 MYH7 GLI3 CITED2 POLR1A ABCC9 NONO JAG1 FANCA TMEM94 AFF4 DHCR7 CCDC65 ACTA2 MED13L SETD2 TBX5 UBE4B TP63 BPTF POLR1B STIL FBN1 BUD23 TSFM CCDC22 DNAI1 ARFGEF2 LRRC56 KAT6A NEK10 HIRA STAG2 DACT1 CLDN3 RPS26 CREBBP FGF10 TBC1D24 ARL6IP6 NPHP3 WT1 TBX4 HSPG2 DLL4 EHMT1 ODAD3 ZMPSTE24 TGFBR2 ADAMTS10 MMP21 DNAAF3 CEP120 RBM10 ALG8 ZNF462 USP9X SLC29A3 QRICH1 ADAT3 FANCF NOTCH1 POLR1C WAC PHGDH USP18 ARVCF TDGF1 FOXC2 B3GLCT MYOCD IGF2 DLL1 ERMARD RREB1 TAB2 LZTR1 LMNA WASHC5 BRCA1 TMEM270 CDK8 PRDM6 G6PC3 PDPN MMP2 CXCR4 KYNU SOX11 SUFU CHRM3 RAD51C ZMIZ1 ARHGAP31 STRA6 HIBCH RBPJ BMP2 EOGT ODAD2 GTF2IRD1 FOXC1 PEX1 SLC25A24 FOXE3 ESCO2 BCOR COA6 ESS2 WDPCP ZIC3 TGFB3 SMC3 TCOF1 SLX4 ALX1 TKT PTPN11 CCNO DRC1 SNX14 ZFPM2 RAC1 APC2 FGFR3 RRAS2 COQ4 MGAT2 TGIF1 MASP1 DPF2 FLT4 ACSL4 FTO EED METTL27 TGFBR1 SEMA3E PIGL DGCR8 ATP6V1B2 SSR4 PSMD12 SPEF2 SMARCB1 ZNF148 CDC42 XRCC2 TBX2 SHANK3 SON TMCO1 LOX HLA-DRB1 PLCB3 UMPS AMER1 FGFR2 ECE1 SH3PXD2B ANKS6 LUZP1 SMARCA2 ALB KAT8 COG6 FANCC RFC2 BRAF RSPH1 MFAP5 ANK1 UBE2T TTC37 PAH CRKL RAD51 SMARCD1 NME8 ALG12 CHUK ODAD4 DNAAF11 CFAP298 GAS1 HYDIN MAP1B ARID1A MAD2L2 SOX4 RAI1 CFAP53 DNAH1 RPL5 COX7B CLIP2 THOC6 FANCE KCNE5 ABHD11 NID1 PCGF2 WDR35 PKD1L1 MCIDAS PIGT DGCR2 DYNC2LI1 KRAS KCNH1 SMARCE1 FANCI GJA1 NCAPG2 LAT2 DNAAF1 STX1A KCNAB2 GJA8 RPL11 CFAP300 SAMD9 FANCD2 TMEM260 SNRPB FOXJ1 DNMT3A SPAG1 SMARCA4 AGGF1 FANCL ZMYND10 DGCR6 AGO2 HLA-B MAPK1 LIMK1 DNAL1 SKI SIX6 TRRAP MMP14 GAS2L2 SF3B4 BAZ1B SKIV2L SMAD2 DNAI2 PRKG1 DNAAF6 VPS33A UFD1 RNU4ATAC MAF CASZ1 SNRPN FBN2 ARX RSPH9 PRDM16 KCNN3 MAT2A PTCH1 CCDC40 CCDC103 GTF2IRD2 GP1BB PEX19 BMPR1A DDX11 CD96 MKKS FKBP6 PLXND1 DNAAF5 CHD4 CLDN4 DOCK6 VPS37D FANCG MLXIPL OFD1 CTU2 PCNT CFC1 FKTN DTNA BRIP1 TRIP4 MAP3K7 GABRD FANCM PALB2 STK36 RIT1 KAT6B HP_INTERRUPTED_AORTIC_ARCH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERRUPTED_AORTIC_ARCH TBX1 GDF1 GATA6 DGCR6 NKX2-6 MMP21 PLXND1 KRAS ESS2 DGCR2 DIS3L2 CHD7 FOXF1 SEMA3E DGCR8 TMEM260 MYCN MED13L FGFR1 SUCLG1 SMG9 HP_ABNORMALITY_OF_ABDOMINAL_SITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_ABDOMINAL_SITUS NSD2 ZIC3 CCDC32 CFC1 CPLX1 PKD1L1 GDF1 CFAP53 CTBP1 FOXJ1 NELFA LETM1 NODAL ACTG2 PIGG HP_MUSCULAR_VENTRICULAR_SEPTAL_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCULAR_VENTRICULAR_SEPTAL_DEFECT WBP11 SVBP THOC6 NUP188 DNAJC19 ALG12 MYCN GATA6 RPL3L HP_ABNORMAL_CORONARY_SINUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CORONARY_SINUS_MORPHOLOGY CRELD1 NR2F2 GATA6 SMG8 GATA4 HP_TRICUSPID_ATRESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRICUSPID_ATRESIA TBX1 SEC24C RREB1 ARVCF COMT PLD1 HIRA JMJD1C TMEM260 GP1BB MYCN UFD1 HP_RIGHT_VENTRICULAR_CARDIOMYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIGHT_VENTRICULAR_CARDIOMYOPATHY TGFB3 JUP PKP2 DSG2 DSP TMEM43 RYR2 DSC2 HP_LEFT_VENTRICULAR_NONCOMPACTION_CARDIOMYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEFT_VENTRICULAR_NONCOMPACTION_CARDIOMYOPATHY RYR2 MIB1 MYOCD DTNA MLYCD NONO HP_PERIMEMBRANOUS_VENTRICULAR_SEPTAL_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIMEMBRANOUS_VENTRICULAR_SEPTAL_DEFECT PUF60 THOC6 NUP188 GATA6 SEC31A CALM3 RAD21 ATRX NDUFC2 BMP2 CITED2 HP_CEREBELLAR_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBELLAR_HEMORRHAGE PCCB APP IVD MMUT ACAD9 PCCA HP_ABNORMAL_ELECTROPHYSIOLOGY_OF_SINOATRIAL_NODE_ORIGIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ELECTROPHYSIOLOGY_OF_SINOATRIAL_NODE_ORIGIN SCN5A TPM2 SDHD SDHC SCN4B CALM2 KCND3 GNB5 CACNA1C CACNA2D1 MYPN MYO1H CASQ2 CALM3 HCN4 SEMA3A SCN2B VHL LMNA RYR1 NPPA PKP2 DLST SCN10A ANK2 CALM1 CACNB2 GPD1L AKAP9 HEPHL1 RET KCNE1 KCNJ8 EPAS1 SDHA MAX FH BANF1 CAV3 KCNQ1 PEX5 KCNJ5 TMEM127 TRPM4 SLMAP SNTA1 SDHB NOS1AP PRKAG2 GNB2 DNMT3A KCNE2 SLC25A11 RANGRF KIF1B SDHAF2 KCNE3 RYR2 KCNH2 BVES TRDN TBX5 SCNN1A TPM3 ABCC9 SGO1 SCN3B TNNI3K SCN1B KCNE5 NF1 MDH2 HP_SINUS_TACHYCARDIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SINUS_TACHYCARDIA EPAS1 SDHA TPM2 SDHD MAX FH SDHC BANF1 PEX5 VHL TMEM127 SDHB MYPN DNMT3A SLC25A11 KIF1B RET SDHAF2 RYR1 DLST TPM3 NF1 MDH2 HP_SICK_SINUS_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SICK_SINUS_SYNDROME KCND3 GNB5 CACNA1C HCN4 TRPM4 SLMAP CACNA2D1 CASQ2 SEMA3A SCN2B RANGRF SCN5A KCNE3 RYR2 TRDN NPPA PKP2 SCNN1A ABCC9 CACNB2 SGO1 GPD1L SCN3B SCN10A AKAP9 SCN1B KCNE5 KCNJ8 HP_FIRST_DEGREE_ATRIOVENTRICULAR_BLOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FIRST_DEGREE_ATRIOVENTRICULAR_BLOCK LMNA GATA4 KCND3 TBX20 CACNA1C HCN4 TRPM4 SLMAP CITED2 CACNA2D1 GATA6 TBX5 SEMA3A SCN2B NKX2-5 RANGRF GJA1 KCNE3 GPD1L DMPK PKP2 ACTC1 TLL1 SCNN1A ABCC9 CACNB2 SCN5A SCN3B GJA5 SCN10A AKAP9 SCN1B KCNE5 MYH6 KCNJ8 HP_SECOND_DEGREE_ATRIOVENTRICULAR_BLOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SECOND_DEGREE_ATRIOVENTRICULAR_BLOCK CACNA1D LMNA GABRA3 CACNA1S SCN5A NPPA CALM3 KCNJ18 HP_BUNDLE_BRANCH_BLOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BUNDLE_BRANCH_BLOCK JUP GLA ATP6V1A GPC4 PIGU RNASEH1 KCND3 CACNA1C SCN1B SCN5A CACNA2D1 BRAF MYOZ2 NKX2-5 SEMA3A SCN2B GPD1L NPPA PKP2 PPP1CB RAF1 GPC3 CACNB2 SCN10A AKAP9 PLEC CDH2 MYH6 MYH7 TNNC1 KCNJ8 HCN4 POMT2 ATP6V1E1 BANF1 GATA4 GYG1 TBX20 GNAI2 TRPM4 SLMAP CITED2 PRKAG2 GATA6 RANGRF MT-CYB KCNE3 MYBPC3 ACTC1 TLL1 SCNN1A ABCC9 CTNNA3 SCN3B PTPN11 TNNI3K KCNE5 DYSF LEMD2 HP_LEFT_ANTERIOR_FASCICULAR_BLOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEFT_ANTERIOR_FASCICULAR_BLOCK SCN5A TNNI3K TRPM4 MYH7 TNNC1 HP_RIGHT_BUNDLE_BRANCH_BLOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RIGHT_BUNDLE_BRANCH_BLOCK JUP ATP6V1A PIGU RNASEH1 KCND3 CACNA1C CACNA2D1 SEMA3A SCN2B SCN5A GPD1L NPPA PKP2 PPP1CB CACNB2 SCN10A AKAP9 PLEC TNNC1 KCNJ8 HCN4 MYH7 POMT2 ATP6V1E1 BANF1 GYG1 GNAI2 TRPM4 SLMAP CITED2 RANGRF MT-CYB KCNE3 MYBPC3 SCNN1A ABCC9 SCN3B TNNI3K TLL1 SCN1B KCNE5 DYSF LEMD2 HP_LEFT_BUNDLE_BRANCH_BLOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEFT_BUNDLE_BRANCH_BLOCK SCN5A TNNI3K PRKAG2 CDH2 MYBPC3 TRPM4 MYOZ2 MYH7 TNNC1 HP_ABNORMALITY_OF_THE_PULMONARY_VEINS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PULMONARY_VEINS CRELD1 SPEF2 GDF1 DNAI2 CCDC39 DLL3 LFNG CFAP221 WT1 DNAH1 NODAL ODAD2 RSPH4A DNAAF6 RIPPLY2 DHCR24 DNAAF2 EIF2AK4 ODAD3 DNAH9 RSPH9 RSPO2 MMP21 MCIDAS DNAH11 SFTPB DNAAF3 FOXF1 CCDC40 CCDC103 CDC42 DNAAF4 TTC12 NR2F2 MESP2 MYRF DNAAF1 GAS8 DNAJB13 BMPR2 CFAP300 RSPH1 DNAAF5 CITED2 CCNO B3GLCT DRC1 CCDC65 TMEM260 FOXJ1 MED13L TBX5 HES7 OFD1 SPAG1 GATA6 ZMYND10 RPS15A DNAI1 NME8 SMC1A NEK10 ODAD1 GATA4 DNAH5 ODAD4 RPGR RSPH3 DNAAF11 CFAP298 LRRC56 HYDIN DNAL1 CRTAP STK36 GAS2L2 HP_CONGENITAL_MALFORMATION_OF_THE_RIGHT_HEART http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_MALFORMATION_OF_THE_RIGHT_HEART CRELD1 SPEF2 NKX2-5 TBC1D24 OTUD5 RAI1 DNAI2 CCDC39 TBX2 CFAP221 DNAH1 NODAL ODAD2 EIF2AK3 RSPH4A DNAAF6 SEMA3E NOTCH1 PTPN22 DNAAF2 HLA-DRB1 ODAD3 DNAH9 RSPH9 PKD1L1 TRAF7 MCIDAS MCTP2 DNAH11 DNAAF3 NADSYN1 CCDC40 CCDC103 DVL3 SH3PXD2B PEX19 DNAAF4 TTC12 GATA5 NR2F2 NKX2-6 BCOR ZIC3 DNAAF1 GAS8 DNAJB13 P4HA2 CFAP300 RSPH1 DNAAF5 TMEM94 CCNO DRC1 CCDC65 PAH FOXJ1 OFD1 SPAG1 GATA6 CFC1 ZMYND10 DNAI1 NME8 LRRC56 HLA-B NEK10 ODAD1 TBX1 GATA4 UBE2A DNAH5 ODAD4 RPGR RSPH3 STAG2 GDF1 MMP2 DNAAF11 CFAP298 HYDIN DNAL1 WASHC5 ATP6V1B2 STK36 MMP14 CHD7 GAS2L2 HP_ABNORMAL_CENTRAL_SENSORY_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CENTRAL_SENSORY_FUNCTION TRAF7 PDGFB SMARCB1 BAP1 TERT PRNP ATP6AP2 ABCD1 PIK3CA NF2 SMO SMARCE1 SUFU AKT1 HP_ABNORMALITY_OF_ADRENAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_ADRENAL_MORPHOLOGY SDHD APC ENPP1 CYP11A1 ARMC5 STAR PDE8B CLCN2 VANGL2 PEX1 WNT4 CDKN2B VHL ABCD1 MEN1 SCN4A CDKN1B TP53 PDE11A YY1 KCNQ1OT1 ROBO1 NSDHL SDHB GLI3 IDH1 LIPA CDKN1C TMEM127 POMC GPR161 BMP4 SIX3 CYP11B1 TBC1D7 TBX19 PRKACA WDR11 KIF1B POLE RET CCDC22 KCNJ5 PROKR2 CACNA1S WASHC5 ATP6V1B2 HYLS1 TBC1D24 ABCC6 SDHC NKX2-6 MKS1 KCNQ1 CHEK2 CYP17A1 NR0B1 ZMPSTE24 HESX1 HSD3B2 DLST CYP11B2 NR3C1 WNT3 GNAS CYP21A2 CACNA1D EPAS1 SDHA MAX FH CDKN2C PRKAR1A PLXND1 POR LHX4 KCNE3 LMNA CDKN1A MTHFR IGF2 USP8 DNMT3A SLC25A11 PTEN CDON CDKN2A GK SDHAF2 ADH5 TNXB CDH23 IDH2 MDM2 AIRE CILK1 NF1 MDH2 HP_ABNORMALITY_OF_ADRENAL_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_ADRENAL_PHYSIOLOGY GATA4 PEX6 HBB IARS2 KLHL3 ARMC5 KCNJ1 SLC12A1 HERC2 CLCN2 NFKB2 SCNN1G PEX1 RBM28 CDKN2B PEX10 TP53 CYP11B2 PEX26 PEX3 NR5A1 HSD11B2 CYP11B1 STEAP3 AKT1 BCOR GLI3 BAP1 SGPL1 KANSL1 SNRPN INSR POMC PEX12 AIP PIK3CA SCNN1B KCNJ10 WT1 WNK1 SRY LIPA VAMP7 DMRT3 MCM4 BRAF PEX11B CLCNKB PDGFB PEX14 MAGEL2 KCNJ2 MEN1 PEX16 PEX5 NDN SAA1 CUL3 CDH23 MC2R STAR SLC26A3 GNAS WWOX CACNA1D TRAF7 OCA2 MRAP PRKAR1A AIRE KCNJ5 AAAS CDKN1B RET SUFU PEX19 HSD3B2 GK CLCNKA NR3C2 SLC12A3 OCRL NNT PEX13 QRSL1 ABCD1 CYP11A1 PDE8B SCNN1A MRPS7 BSND SMARCB1 PDE11A TXNRD2 ZFPM2 PEX2 CTNNB1 SAMD9 WNK4 NF2 SMARCE1 TBX19 PRKACA SNORD116-1 SMO HSD17B4 NDUFAF5 TRAPPC11 TERT LHX4 GATB TBCK PROP1 NR0B1 SOX9 PWRN1 NR3C1 MRPS25 GATC NFS1 MKRN3 KCNJ16 PWAR1 CYP17A1 CDKN2C POR MAP3K1 CDKN1A NPAP1 DHX37 PCSK1 TCTN3 HTR1A GMPPA SNORD115-1 HP_CENTRAL_ADRENAL_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_ADRENAL_INSUFFICIENCY MAGEL2 OCA2 GLI3 IARS2 CTNNB1 SNRPN MEN1 POMC AAAS NFKB2 AIP RBM28 TBCK NDN TBX19 CDH23 BRAF PCSK1 HP_ADRENOCORTICOTROPIN_DEFICIENT_ADRENAL_INSUFFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENOCORTICOTROPIN_DEFICIENT_ADRENAL_INSUFFICIENCY MEN1 TBX19 RBM28 CDH23 AIP NFKB2 HP_PRIMARY_HYPERALDOSTERONISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMARY_HYPERALDOSTERONISM SLC12A3 CLCN2 KCNJ5 CYP11B1 SCNN1A SCNN1G CYP11B2 SCNN1B CLCNKB HP_GLUCOCORTOCOID_INSENSITIVE_PRIMARY_HYPERALDOSTERONISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLUCOCORTOCOID_INSENSITIVE_PRIMARY_HYPERALDOSTERONISM CLCN2 KCNJ5 SCNN1A SCNN1G SCNN1B HP_ADRENOCORTICOTROPIC_HORMONE_DEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENOCORTICOTROPIC_HORMONE_DEFICIENCY MEN1 POMC TBX19 CDH23 GLI3 AIP TP53 LHX3 HP_ADRENOCORTICOTROPIC_HORMONE_EXCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADRENOCORTICOTROPIC_HORMONE_EXCESS ABCD1 CYP11A1 HSD3B2 CYP17A1 MCM4 HP_ABNORMALITY_OF_THE_POSTERIOR_PITUITARY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_POSTERIOR_PITUITARY PDGFB LHX4 ERF GAS1 PROP1 TERT FOXH1 AVP BAP1 GLI2 TGIF1 DYRK1A PI4KA TDGF1 OTX2 NODAL SOX3 LHX3 TBX3 SMARCB1 HESX1 SHH POU1F1 PUF60 MTHFR ZIC2 ROBO1 ADGRG1 AKT1 TRAF7 PTCH1 SRPX2 SIX3 TP63 FOXA2 CTNNB1 CDON GPR161 PIK3CA NF2 SMARCE1 SUFU WDR11 VANGL2 FGF8 DLL1 WFS1 DISP1 PROKR2 BRAF SMO HP_POSTERIOR_PITUITARY_DYSGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_PITUITARY_DYSGENESIS LHX4 OTX2 DYRK1A ERF SRPX2 PROP1 FOXA2 HESX1 GPR161 GLI2 PI4KA CDON WDR11 VANGL2 POU1F1 SOX3 LHX3 TBX3 PUF60 MTHFR PROKR2 ROBO1 ADGRG1 HP_PITUITARY_GROWTH_HORMONE_CELL_ADENOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PITUITARY_GROWTH_HORMONE_CELL_ADENOMA CDKN1B DNAJB11 GPR101 CDKN2C MEN1 PRKAR1A GANAB PKD2 BICC1 AIP CDKN1A ALG9 PKD1 CDKN2B HP_ABNORMALITY_OF_THE_PARATHYROID_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PARATHYROID_MORPHOLOGY GCM2 CDC73 MEN1 GATA3 NF1 CDKN2C PRKAR1A IDH1 CLCNKB CDKN1A SEMA3E CDKN1B RET TSC1 CDKN2B TSC2 IDH2 TBX1 SLC12A3 FLCN CHD7 KL CASR HP_PARATHYROID_DYSGENESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARATHYROID_DYSGENESIS SEMA3E GATA3 CHD7 TBX1 GCM2 HP_ABNORMAL_THYROID_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THYROID_MORPHOLOGY FOXE1 KEAP1 BMPR1A MLH1 TSHR DNAH1 PTEN LMNA KCNJ18 FOXI1 NKX2-5 CDKN2B KRAS ERBB2 IYD PAX8 APC RET FOXP3 TPO TG FAS GDNF ITCH DCLRE1C GLI3 PIK3CA TGFBR2 TCOF1 LHX4 PMS2 CTLA4 IRS4 GPR35 NLRP1 TSHB MLH3 POLG2 POU1F1 EYA1 DPF2 CACNA1S ECE1 MSH2 KLLN LIFR SMARCB1 NKX2-1 GREM1 SDHC IL7R FOXD3 TBX2 SEMA3C PROP1 RAG1 TCF4 CDC73 SLC26A4 C1S CHEK2 THRB SEMA4A RPS20 CDH23 LHX3 DUOX2 HESX1 SLC37A4 CHD7 GNAS RAG2 ADA2 MINPP1 PRKAR1A RCBTB1 SEMA4D SMARCC2 CDKN1B NRAS CDKN2A RRM2B SMARCD1 SLC25A4 MDM2 USF3 SLC12A3 MSH3 POLG SEC23B ARID1A DUOXA2 SOX4 ARID2 HLA-DQB1 POLR1D CLCNKB SOCS1 DICER1 EDNRB SLC5A5 WRN RASGRP1 ERBB3 DMPK HABP2 KCNJ10 ARID1B CASP10 FLCN SMARCE1 MSH6 NSDHL CCBE1 SEMA3D SASH1 IDH1 ZFAT TP53 JAG1 STAT5B NRTN MEN1 POLR1B SMARCA4 ABCD1 EPCAM SUGCT SDHD STAT1 IL2RG ADAMTSL1 MMP14 EDN3 SIX1 SDHB ALMS1 SMO PLCG2 PMS1 LRBA MST1 SRGAP1 FAN1 AKT1 HRAS PRKCD TRHR ATP7A POLR1C TWNK SREBF1 CDKN2C HLA-DQA1 ADA CDKN1A FASLG LIG4 TTC7A IDH2 IL18BP RMRP MMP2 SOX11 IL2RA KAT6B HP_THYROTOXICOSIS_WITH_DIFFUSE_GOITER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THYROTOXICOSIS_WITH_DIFFUSE_GOITER SLC12A3 GABRA3 CACNA1S TSHR CLCNKB KCNJ18 HP_CENTRAL_HYPOTHYROIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_HYPOTHYROIDISM SIM1 DMXL2 DLL1 FOXH1 SHH TDGF1 STAG2 CDON SMC1A EIF2AK3 PTCH1 TRH ZIC2 GLI2 SOX3 GAS1 SMARCB1 MAGEL2 FGF8 LEP NODAL LEPR AKT1 NIN GLI3 BAP1 PROP1 LHX4 DISP1 CTNNB1 SIX3 SNRPN INSR HESX1 NEXMIF IRS4 AIP PIK3CA NF2 FGFR1 TSHB SMARCE1 POU1F1 RBM28 TMEM67 CPE BRAF SMO PDGFB KATNIP TERT RPL10 MEN1 POMC OTX2 CDH23 LHX3 NDN TGIF1 TRAF7 TRHR OCA2 POU3F4 FOXA2 SUFU SETBP1 ARNT2 TBL1X PCSK1 HP_NEOPLASM_BY_HISTOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_BY_HISTOLOGY EXT2 SF3B1 SDHD RAD51D POT1 NF1 NRAS PALB2 BUB1B DIS3L2 ADA2 PRLR SUFU VHL WRN FLI1 LMNA VPS16 BMPER KRAS RTL1 CDKN2B APC TCTN3 MMP23B H19 FH PKHD1 RAF1 NR5A1 FAS DHCR24 SPTBN1 RAD51 PIK3CA BRAF ERCC2 GATA1 TGFBR2 PTPRJ SPEN MAP2K1 BRCA1 EWSR1 PMS2 SDHA TRIM28 CDKN2A SDHB CCND1 CREB1 TSC2 CDK4 AKT1 DLC1 MLH3 MSH6 MSH2 MITF MC1R GPC4 RPS27 PTEN DMRT3 MRE11 EDN3 PLCD1 AXIN2 PHOX2B KLLN EXT1 ERCC3 PDGFB SDHC RB1 TP53 TUBB RERE PRKCZ BAP1 TRIP13 CHEK2 FLCN SEMA4A RPS20 TSC1 VEGFC RSPRY1 TERF2IP PAX6 RELA MEG3 GPC3 BMPR1A MTAP PALLD REST POLE WWOX RPS29 DCC MAX COL18A1 MNX1 RPS10 LRP1 ERCC4 ASXL1 BMPR1B RPL26 SMARCC2 COL4A5 MYO1H PDGFRB CDKN1B OCA2 XPA KIT POLH SETBP1 WT1 FLT4 ACD POU6F2 MDM2 RPS24 PTCH1 RECQL4 MDH2 MLH1 PAX3 ARID2 ERCC5 RPL27 BRCA2 BUB1 FAT4 DMPK BARD1 NSD1 ARID1B CYSLTR2 RSPO1 ZFPM2 HRAS GLI3 IDH1 ATP6V1B2 CDKN1C GNAQ MGMT TYR RPL15 MEN1 SETD2 UBE4B NF2 KIF1B GJC2 GDF5 KANSL1 PDGFRL ABCA5 PTPN11 SMO PTCH2 KIF7 BDNF GCDH TAF15 KRT1 HSPG2 KCNQ1 NBN FGFR3 DZIP1L KRT10 CDC73 CPLANE1 BRD4 SOX9 RPL31 IDH2 ASCL1 SMAD4 FAN1 KCNN3 ERBB2 ZFTA STK11 CDKN2C MAP3K1 NR0B1 CDKN1A KCNH1 XPC SOX2 SLC25A11 KIAA0753 GNAS SDHAF2 ASPSCR1 RPS17 LRP5 ALX4 PDPN CXCR4 SOS1 SOX11 FIBP RPS28 GATA4 RNF43 KEAP1 RPS15A BUB3 RPL18 SLC37A4 PHF21A IGF2 SLC6A17 ELMO2 RPL35 ACTB RPL35A KCNQ1OT1 TERT RUNX1 COL1A1 TMEM127 SQSTM1 SSX1 TSR2 APC2 FOXC2 RET DPF2 SRY DDB2 EP300 VAMP7 BRIP1 ANTXR2 PTH1R BCL10 SMARCB1 GREM1 PDGFRA HDAC4 CTNNB1 GNA11 RPL5 NOTCH3 DLST PDE6D ERCC6 NR4A3 ADAMTS3 IFNG COL4A6 SMARCA4 TFAP2A GDNF LUZP1 MVK TRAF7 YY1 MMP1 RPS26 RAD54B PRKAR1A SSX2 RAD51C TRIM37 FAM149B1 TTC37 FOXO1 CTSC DICER1 SMARCD1 USF3 MSH3 RABL3 ARID1A SRC AURKA SOX4 NLRP1 RASGRP1 PCGF2 AAGAB DYNC2LI1 CASP10 SMARCE1 KRT17 COL14A1 TLR2 FLNA TBX18 KCNAB2 ACVR1 TMEM216 SPRED1 RPS19 PAX7 MCC NUTM1 RPS7 EPCAM NEK9 OFD1 FAM20C SKI SIX6 SKIV2L RPL11 FGF3 CCBE1 BAX PMS1 SEC23B PERP CEP57 CASZ1 PRDM16 PTPN12 RAD50 PRKCD DKC1 COL7A1 BLM ANAPC1 POLD1 FASLG DHX37 MAPRE2 MBTPS2 PLA2G2A GABRD DLK1 SLC22A18 TRPV3 HP_EMBRYONAL_RENAL_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMBRYONAL_RENAL_NEOPLASM PALB2 H19 FIBP EXT2 GATA4 IGF2 GPC4 TP53 BUB3 BUB1B DIS3L2 PIK3CA BUB1 WT1 CDC73 HDAC4 KCNQ1 TRIP13 BMPER PHF21A PTCH1 CEP57 REST SOX9 PAX6 NSD1 GPC3 NR5A1 KCNQ1OT1 ZFPM2 WWOX DICER1 TRIM28 BRCA2 TRIM37 ASXL1 CDKN1C MAP3K1 NR0B1 BLM DHX37 SETBP1 POU6F2 SRY VAMP7 DMRT3 ALX4 HP_ABNORMALITY_OF_FACIAL_SOFT_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FACIAL_SOFT_TISSUE PPARG COL1A1 GTF2I MYL1 SGCD CFL2 SELENON MYO1E POU3F3 HLA-DPA1 COL12A1 SLC18A3 TPM3 CHCHD10 LMOD3 GJA1 TECPR2 DOK7 KRAS AP4E1 ANGPT1 MUSK SLC18A2 GPR101 DNAJC6 TK2 IRF6 SH3TC2 PAX7 AP4S1 COL13A1 TP63 STRADA SLC9A7 MYH7 ATP6AP2 ADAMTS3 SPTBN1 ANKH TXNL4A MSTO1 MAN2B1 RYR1 FRMPD4 XYLT2 ITGB4 SCN4A CHRND CHRNE PTCHD1 DES TSC2 CAPN3 PIK3CA TSHB SUMF1 ARX AIP MYO9A MGAT2 POLG2 MECP2 POU1F1 MSH6 EYA1 SOX18 GBA PLXND1 GIPC1 CHRNA1 CHAMP1 LMNA TBL2 SHANK3 MEGF10 VCP PLCD1 GIGYF2 KLLN PTPRO CACNA1A LRP5 PDGFB CLCF1 SDHC NGLY1 HACD1 ABCA1 GAN ATP1A2 BAP1 MSX1 MAGI2 SNCA KCNK4 SYP GMPPB PEX5 KBTBD13 DLG3 ADA2 POLG LHX3 PEX3 DMPK TBC1D8B PPP1CB CACNA1S LRP4 MSH2 HLA-DRB1 ADCY5 HS3ST6 MED12L TPM2 PABPN1 NCF1 ASXL1 ZBTB11 PUF60 DNAJC30 GSN PPP2R1A SYT2 RRM2B PEX2 TREX1 SETBP1 INF2 COL5A2 NARS2 PEX6 SLC25A1 MTM1 CD96 CHD7 ANTXR1 BCL7B DMD KLHL41 ARHGDIA ACSL4 ZNF711 CNKSR2 ITGA7 SPEG MLH1 MID2 RECQL4 BICRA NEB SIX1 COLQ IYD CAMK2G SLC6A3 SLC25A42 PPP2R2B SLC5A5 NEU1 GNE PURA ALB ACTN4 NPHS1 CNTNAP1 RAB39B FBXO7 DNM2 MPZ POMT2 FKRP GDI1 TNFSF11 CHAT ELN SLC29A3 KDM5C RPS6KA3 ANO5 ALG13 IGSF3 ACTN2 EIF4H LMNB2 RIN2 VPS13B DAAM2 GLI3 CD2AP TTN NEFL SRPX2 USP27X NPHS2 SLC39A14 SLC30A10 FTL ACTA1 HERC1 COL6A2 MEN1 MYPN DHCR7 NOD2 JAM2 DNM1L PSMB9 ADSS1 RAPSN KCTD1 BUD23 CCDC22 KAT6A UBA1 SDHD TUBB6 SMCHD1 F12 OPA1 TGFB1 PIK3CD PSMB8 MED12 CLDN3 MYOF SMO COL6A1 NECTIN1 PTDSS1 DPAGT1 SPTBN4 SLC12A6 IQSEC2 NUP205 TCIRG1 AP4B1 MYMK SCO2 ACADS LARGE1 CRYAB PLAA ALS2 GNA14 LAMA2 CLCN7 YME1L1 CAMTA1 AMER1 HAVCR2 UPF3B RASA1 GFPT1 KCNJ6 PEX12 ZC4H2 USP9X VPS35 IRF2BPL SLC1A3 CLCN4 GLE1 SLC52A2 PEX16 SIX5 ATP13A2 BAG3 AP4M1 KCNK9 TUBB3 LRRK2 KLHL40 DCTN1 TPO ANKFY1 POMP LAMB2 ERCC6 REV3L WASHC5 TMEM270 COQ8B AGRN CTLA4 SLC5A7 GAA PRRT2 TRPV4 SUCLA2 ADCY6 WT1 NUP133 PSPH ZMIZ1 CDH11 MYD88 GTF2IRD1 NUP37 PTEN KNSTRN SPTBN2 MTMR2 ASAH1 ABCC9 ESCO2 ZNHIT3 MT-TE DNMT3B DNAJB6 ZNF41 KNG1 NUTM2B-AS1 NUP160 POMT1 SLC25A4 MYL2 AKT1 ZNF81 TPP2 HOXB1 PEX26 ACTB CHRNB1 STAG2 EIF4G1 LHX4 ANLN AGTR2 SNX14 ACTG1 PRKCG PLG FTSJ1 PAK3 COL4A3 SOST NUP85 ERCC8 PIEZO1 SHMT2 METTL27 CRPPA SEMA3E MGME1 PAX2 PEX10 SCN1A CHKB PROP1 SLC25A21 PPP2R5D FRG1 GRIA3 FRMD4A GAPVD1 BMS1 DUOX2 SYNE1 HESX1 TNFRSF1A COL4A1 HRAS IFNG BIN1 PLEC HK1 TFAP2A COL6A3 ZMPSTE24 TRAF7 YY1 KDM4B MTMR14 DNAJC13 SQSTM1 HLA-DPB1 RFC2 PEX14 NRAS ATP1A3 PSMB4 SLC19A3 MTRFR SLC26A2 SUFU EPHB4 TET3 SALL4 USF3 EMP2 PEX13 ALG2 POGZ RAB11B PLCE1 AMPD2 PEX19 AK9 PRTN3 ALG14 SLC35C1 GNAQ ARHGEF6 CLIP2 SERPING1 SYNJ1 ABHD11 COX6A2 NUP93 CC2D1A PCGF2 NF2 MYOT UNC80 GJC2 SMARCB1 SNAP25 SPR APOL1 PLA2G6 PEX1 KRT17 ADGRG1 CCBE1 FKTN MT-TN LAT2 STAC3 STX1A CRB2 KY BTNL2 TG DSE DLL4 TRIM32 NOTCH2NLC SMARCE1 NUP107 COL5A1 TRPC6 NLRP1 TSPAN7 KPTN LIMK1 PEX11B FLNC BAZ1B SDHB STEEP1 TERT POLR3A GNPTAB SLC52A3 ADAMTS2 EBF3 SEC23B ATXN1 IL1RAPL1 PI4KA TSC1 VAMP1 DUOXA2 SNX10 KIF1A PTRH2 DNA2 LTBP4 YARS1 GTF2IRD2 ABCD1 RNASEH1 OFD1 SURF1 PTPN22 DUX4 MT-TS1 TWNK FKBP6 CRLF1 POR CLDN4 ANAPC1 VPS37D PODXL ARHGAP24 MLXIPL HCFC1 MAP3K20 FOXG1 LRP12 HP_MIDFACE_RETRUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MIDFACE_RETRUSION NXN FIBP A2ML1 ZMIZ1 IREB2 B3GALT6 WDR73 DLX4 RPS28 SATB1 MGP BUB1B SATB2 IARS2 RIT1 CCDC47 FGFR2 ERF BMP2 GRIN1 FLNB EBP RAI1 PEX1 FOXC1 DEAF1 KRAS AMMECR1 SLC25A24 ZNHIT3 RAF1 TCF12 GPC4 ROR2 RAB23 FLII DDB1 MMP23B SERPINH1 ZNF41 OBSL1 KMT2C SMAD4 PIGV KCNQ1OT1 PPP2R5D SH2B1 CLCN4 SLC9A7 FGFR3 ITCH ZNF81 P4HB HOXB1 FAM20C BANF1 CBL TCOF1 SPEN LHX4 FRMPD4 CHST3 CPLX1 LRPPRC GHR PRKAR1A NDUFB11 PRKACA AGL WNT5A AGTR2 PTCHD1 SOS2 COL2A1 BMP4 WASF1 UBE2A GLI2 ARX SLC26A2 POU1F1 LINS1 COL11A2 FTSJ1 PAK3 PTH1R AIFM1 TMCO1 CSGALNACT1 TCF20 SOS1 COL11A1 PYCR1 TSEN54 MYSM1 RAB3GAP2 PITX2 RAC3 OTUD5 CDC42 HECW2 COL1A1 TSR2 NRAS PROP1 RNF13 FOXG1 ACP5 HDAC4 TWIST1 RERE PRKCZ ACTB ZBTB20 SEC23A MAF SYP FAT4 IGF2 DLG3 NFIX DVL1 LHX3 FGFR1 HESX1 RFWD3 CTCF ZIC1 DVL3 EHMT1 MTOR LBR MED13L LUZP1 ACAN SLC6A8 COL18A1 OSGEP ATP6V0A2 DCHS1 POP1 KIF15 POMGNT1 CCDC8 RRAS2 SETBP1 FBN1 PDE4D ALG12 PSMD12 POR PKD2 ANTXR1 WAC FLNA DMD POGZ IFT52 TGFB3 ACSL4 ZNF711 CNKSR2 LEMD2 EPB41L1 TBX1 MID2 PTPN11 BICRA AMPD2 DHX37 B3GAT3 LIFR POLR1D GMNN ARHGEF6 ATRX HCCS SOX11 LRRC32 COG1 RAB39B EFTUD2 GDF11 WDR35 SLC35D1 GDI1 MEGF8 FAM50A KIF22 RPS6KA3 RUNX2 ALG13 LMNA MAN2B1 MECP2 HSPA9 KCNAB2 USP27X DDR2 POLR1A SON SMCHD1 NEPRO CDKN1C RRAS CDH11 DSE USB1 SIX3 UBE4B H19 BPTF TUBGCP2 POLR1B MLXIPL PTCH1 CANT1 SMC1A MRPS14 KAT6A TSPAN7 NKAP TBL1XR1 ANKRD17 BCL11A MED12 IQSEC2 HNRNPH2 SKI SF3B4 PIK3R1 CHD3 STEEP1 LRP2 MESD HSPG2 KCNQ1 ELN MRAS IL1RAPL1 YME1L1 CASZ1 PRDM16 TMEM165 KIF1A LZTR1 B4GALT7 SHH UPF3B CEP120 LTBP4 SP7 USP9X MIR140 TONSL BICD2 STAC3 POLR1C CTSK SOST CDK19 SEC24D RASA2 BRF1 PTRH2 HCFC1 COX7B CUL7 RAB3GAP1 NECTIN1 NSMCE3 FZD2 NF1 PLP1 MN1 PDGFRB GABRD PDPN IFT81 CHD1 CILK1 HP_HAMARTOMA_OF_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAMARTOMA_OF_TONGUE CPLANE1 PLCB4 TMEM107 OFD1 EDN1 KIF7 NEK1 TCTN3 DYNC2H1 TMEM216 PDE6D GNAI3 C2CD3 TMEM231 FAM149B1 WDPCP INTU KIAA0753 HP_BIFID_NOSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIFID_NOSE NF1 TBX4 ZSWIM6 ALX3 FREM1 NUAK2 ALX4 ALX1 HYLS1 HP_TYPE_1_MUSCLE_FIBER_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_1_MUSCLE_FIBER_ATROPHY SPTBN4 MAP3K20 TPM2 HACD1 SYNE2 FHL1 RYR1 ACTA1 EMD SYNE1 SELENON TPM3 LMNA HNRNPK ALG14 TMEM43 MYL2 ITGA7 HP_DECREASED_PATELLAR_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_PATELLAR_REFLEX HADHB LDB3 HADHA MYH7 FBLN5 DYNC1H1 HP_INCREASED_CEREBRAL_LIPOFUSCIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CEREBRAL_LIPOFUSCIN CLN5 TPP1 CLN8 CLN6 PSAP CLN3 DNAJC5 CTSD PPT1 HP_BASAL_ENCEPHALOCELE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BASAL_ENCEPHALOCELE NODAL PTCH1 GAS1 SHH ALX3 SIX3 FOXH1 FGF8 DLL1 CDON DISP1 TGIF1 ZIC2 GLI2 TDGF1 HP_SUBMUCOUS_CLEFT_SOFT_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBMUCOUS_CLEFT_SOFT_PALATE GRHL3 STAC3 KCNK9 NEK1 TP63 SON UBB NONO POLR3A HP_ABNORMALITY_OF_FACIAL_SKELETON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FACIAL_SKELETON TRPS1 COL1A1 CCDC32 PIGA MGP BUB1B TENT5A ALX3 NUP107 TPM3 ERCC8 DPM1 TAPBP FOS NDP GORAB SLC6A8 TCTN3 RERE WDFY3 SMAD4 ARSL SMOC1 KAT5 ANKH DNAL1 AGPAT2 ANKRD11 AIMP2 CBL MAP2K1 KRAS ZEB2 NEXMIF CTSK SIN3A PEX12 SOS2 AIP FLNB FAM111A COG4 FOXE1 GRHL3 CCDC65 CSGALNACT1 NXN LMNA KCNMA1 SOS1 MAP2K2 CHST14 MYLK MIR140 TMEM70 SNRPN RAC3 HACD1 HUWE1 CCDC39 PIGN FIG4 TP63 COL11A1 NRAS KCNJ2 DIS3L2 CCDC103 C1R PLAG1 PARN PEX5 KBTBD13 ARCN1 RSPRY1 VAC14 HNRNPU EFTUD2 MEG3 CDT1 MED12 PEX7 ERCC2 PQBP1 CFAP300 MYH8 EXT1 RPS29 DNAAF11 RPS10 PTCH1 GAS8 NCF1 CREBBP HYMAI B9D1 INSR ATRX NEK10 TGFB1 SUFU AP2M1 DPH1 ITGA8 RFT1 SETBP1 AEBP1 B3GALT6 NF1 RPS24 CHN1 NAA10 CHUK JARID2 TBL1XR1 BICRA PREPL DONSON PDE4D RSPH4A MAPRE2 ZMIZ1 PLA2G6 SLC9A6 SLC2A10 DCHS1 C12orf57 CEP152 COG1 FAT4 POR KDM5C WDR35 PGAP2 FUCA1 GDF11 SH3BP2 UBB ARHGAP29 GSC ELN SIX1 TCIRG1 EIF4H SRPX2 PTPN22 B9D2 CDH11 TOR1A DNAAF6 MED27 PSMB9 CRPPA ECEL1 FGFR2 BRD4 EDN1 MTX2 FOXJ1 PI4KA RAI1 MKS1 FBN1 HIRA DLK1 GLI2 CLDN3 HNRNPH2 MDM4 TBX1 PTDSS1 IGHM SETD5 ATP6V1A TMEM216 MYH7 ODC1 TBX4 TBCD SLC26A2 MYPN GLDN DZIP1L KAT6B CDC73 BTK CC2D2A CLCN7 ZMPSTE24 NUP133 ADAMTS10 FKTN DISP1 DNAAF3 CASK SATB2 KCNN3 STAG1 D2HGDH ADAT3 ATP6V1E1 RAPSN POLR1C SEC24D TOE1 TBXAS1 STK36 COL2A1 IGF2 VPS13B NEK9 RTL1 EIF5A CEP57 FGFR3 TMEM270 LRP5 SLC29A3 GLE1 SATB1 RAF1 PAX3 CEP290 RAD51C RPS28 SMPD4 HERC2 KIF11 BUB3 CD19 RIT1 ODAD2 RPL18 DNMT3B SLC25A24 ABCC9 TAP1 DOK7 ATRIP RAB3GAP2 ESS2 GNAI3 NFIX CLCN4 RFXANK IDS MYL2 IBA57 ZIC2 NSDHL TCOF1 FGD1 SLX4 TBCE ALX1 ERF CCNO DRC1 BMP4 HPDL PRKAR1A MBD5 PTH1R NCF2 FTO EED RNF113A METTL27 ARID1B BLM SEC23A LMOD3 BRAF NALCN SLC6A9 RELN KIF7 TSEN54 PSMD12 MUSK TSR2 PPP1R12A HS2ST1 PPP1R15B DEAF1 ZC4H2 MAP3K7 CWC27 UBE3B PUS7 TNFRSF13C P4HTM SLC10A7 PDE6D XPA SUZ12 COL11A2 PPP3CA PRRX1 TFAP2A CFTR GJA1 ICOS RLIM TAFAZZIN KDM4B SLC25A19 DNAJC21 RFC2 ALG1 TRIM37 TTN PIGW RSPH1 NCF4 LAGE3 UBE2T B3GLCT HS6ST2 SLC3A1 PSMB4 DDB2 CRKL FOXP1 MCIDAS NME8 PEX3 CPLANE1 SNRPB ORC6 RBM8A PIGG CD247 TGFB3 COG7 NFKB1 SOST TGFBR2 PRTN3 MEN1 SLC35C1 SLC18A3 ZNF341 CLIP2 AP3D1 EBP KCNE5 ZBTB24 SNAP25 OPHN1 ELANE PIGT LETM1 BDNF COL3A1 IFIH1 DNAI2 ADGRG1 PAX6 LARP7 MITF TRIP12 TPM2 EP300 RPS19 SLC35A2 DNMT3A FANCL TGFBR1 LAS1L ZMYND10 SOX5 SMC1A BGN BPNT2 MAPK1 KAT6A RBBP8 OFD1 FAM20C ERCC6 PYCR2 EYA1 GAS2L2 TMEM107 RPL11 CLTCL1 DPYSL5 PTEN OTX2 ATAD3A PRKG1 ALG14 CLCF1 WIPF1 BMP2 DDX6 ALG9 RNU4ATAC TNNT3 FBN2 SMC3 KIF1A LZTR1 SHH ACTA1 CCDC40 FGF8 SP7 TAPT1 GP1BB ESCO2 HSPG2 STAC3 STAT4 FMR1 SKI RPL10 SMAD3 TCF3 DLG1 HRAS CTDP1 TWIST1 MAP3K20 PCNT NARS1 PLOD3 GPC6 HBB FANCD2 TRIP4 CCDC88A LARGE1 KMT2E EXOSC1 HMGA2 GTF2I SLC35D1 CFAP221 CFL2 HLA-DPA1 TBC1D2B INTS1 MYCN AMMECR1 TERT DDB1 BPTF MCTP2 C2CD3 IL2RG DNAAF2 TGFB2 TXNL4A DNAJB13 BANF1 RAB18 FZD2 RFXAP MGAT2 NUP188 PLAGL1 GNPAT ODAD1 SFRP4 RFWD3 PYCR1 LTBP3 LRP4 COL9A1 OTUD5 TUBB MIA3 GBA PEX16 PYROXD1 PTPN23 SMS RPS20 MAFB CIITA ERGIC1 DKC1 IGBP1 MADD DNAH11 UNC80 DVL3 AP4M1 MYH3 RPGRIP1L PEPD CACNA1G SOX6 LBR TMEM67 IRF6 ATP6V0A2 KIAA0586 CR2 ZBTB18 NFKB2 DNAJC30 DYRK1A GMNN SYT2 BCORL1 TAT CEP55 HDAC4 TP53RK CHD7 ANTXR1 MCM5 AGO2 PTPN11 TXNDC15 POC1A FGFR1 RECQL4 DYM SEC24C SPECC1L COLQ RPL27 POLR1D INTU NSMCE2 PSAT1 SHOX ORC1 ERCC1 ACTG1 WASF1 TNFSF11 ASNS ATP7A RUNX2 DNAAF4 FLNA STAG2 CTNNB1 PSMC3 FANCA HERC1 DHCR7 CSNK2B RUSC2 SRP54 PLK4 FRMPD4 MAGEL2 SCARF2 PIEZO2 TCF20 CYBA MYOD1 PUS1 FGF10 LGI4 ARL6IP6 SOX9 KAT8 LRP2 IL17RA UBE3A PLAA GTF2E2 GPKOW RYR1 LRBA ORC4 PEX2 MECP2 CEP120 WNT3 FANCF GNAS CHRNA1 SIX5 ZNF292 XRCC4 ARVCF KCNK9 KCNH1 ATP10A KIAA0753 DNAH5 COX7B P4HB TRAPPC4 CTLA4 MAMLD1 SLC5A7 LRRC56 PSPH CNOT3 FLVCR2 GTF2IRD1 POLE ERCC5 SPEN MYBPC1 ZNHIT3 SLC6A17 NTNG1 TRIO FLII GATA4 TAP2 NUP88 RSPO2 RPL35 TERC TRMT10A RPL35A RAB3GAP1 DYNC2I1 ADA SLC12A2 KPTN NDUFB11 WNT5A PITX2 TBC1D7 ADAMTSL2 DYNC2I2 TPRKB PIGY ACSL4 DOCK3 XRCC2 MYMK TMCO1 AMER1 NOP10 CFAP298 ATR ADAMTSL4 ADAMTS3 CTNND2 MED13L CHRND DSE TGDS NONO HDAC6 COL5A1 YY1 HDAC8 CYBC1 HLA-DPB1 FANCC MFAP5 MSL3 APC EFL1 PAH FLCN EDA IFT43 POGZ HYDIN ANO5 MAD2L2 RB1 LIFR COLEC11 SEMA3E RDH11 SNIP1 FOXC1 MTM1 AP1S2 DLG3 COL5A2 EHMT1 DPM2 FAM50A TBX22 SPAG1 CRLF1 MAN2B1 LAT2 NBN POLR1B MINPP1 GNPTAB RPGR MSTO1 TNNI2 TUBGCP2 RPS7 DGCR6 POMT2 STXBP2 DPYD BSCL2 ALG11 LIMK1 TAB2 MESD CCBE1 ADAMTS2 COL1A2 GATA1 LIG4 TRIP11 CENPE VAMP1 RSPH9 EXOC7 ACP5 LTBP4 WNT7A USB1 EXOC6B ALG12 MOGS ATP6AP2 VPS35L NSD1 CEP135 BLNK RASA2 FANCG SPATA5 CTU2 COL9A3 KIF22 BRIP1 FANCB FANCM IRF8 PALB2 TONSL TNFRSF13B SH3KBP1 A2ML1 SH3PXD2B BMPER DNAAF1 RAB23 SVIL TNRC6B PAX7 NTRK1 RPS6KA3 DHCR24 RHOBTB2 CENPF AGA IRF2BP2 CHRNE AKT1 RSRC1 MYO9A COG8 SC5D CFI EZH2 ASXL2 PLXND1 TUBB3 RPS27 DYNC2H1 ERCC4 CTBP1 NOTCH3 ACTB OTUD6B LOXL3 EMG1 GPC4 ZNF699 ROR2 ATPAF2 PHIP WAS FKRP YARS2 ZDHHC9 OSGEP FDFT1 ZBTB11 CLIC2 RFX5 CD79A PEX19 RRAS2 DSTYK DHODH COG5 SLC25A1 CD96 COL6A3 BCL7B PPARG ATM SPEG COL13A1 NEB B3GAT3 SCYL2 BUB1 COMT PIGB DVL1 COASY BRCA2 IGLL1 MPLKIP PTCH2 DNAH9 CHSY1 CHAT IGSF3 ACAN TTC12 ZNF335 POLR1A SVBP RRAS DOCK8 AFF4 TANC2 NHS CNTNAP1 SIX3 COL9A2 TARS1 BUD23 PLEKHM1 OSTM1 ATG7 PSMB8 RPS26 IGF1 PTPN2 PMM2 SLC12A6 IGF1R SIM1 PHGDH RAC2 BCL11B ODAD3 LAMA2 DDR2 TMEM165 AUTS2 KNL1 ERMARD GFPT1 EXTL3 AHDC1 KIFBP CENPJ FCGR3A LAMB2 DNAI1 TWIST2 EDEM3 BRCA1 GHR CXCR4 GJB6 STRA6 PIGL POLR3A SLC35A3 APC2 PEX1 HYLS1 PHF21A HELLS CHRNG PEX26 SERPINH1 OCLN SELENON EMC1 RTTN PEX14 HOXB1 RARB TELO2 ABL1 CHST3 NELFA IFT80 LRPPRC PRKACA SBDS SMO PIEZO1 ARID2 CDC6 SPEF2 PAX1 CDCA7 SPRTN TRAIP ZBTB20 EPG5 SON PNP LOX CD79B DOCK6 NEK1 ERCC3 IQSEC2 GPC3 DPAGT1 UNC119 KCNJ6 ACTL6A MAPK8IP3 XPC ANK1 KCNJ5 PNKD TAF1 PIGQ CCNK RAD51 NOTCH2 ODAD4 PGM3 IL11RA TMEM237 PLCB4 VPS33B PRKACB DNAH1 RPL5 HCCS FANCE ABHD11 MEGF8 DGCR2 KDM6A POLD1 FANCI VARS1 MBTPS2 WDR26 STX1A NEPRO COL12A1 MYO18B RIPK4 ASXL1 SETD2 SALL4 NECTIN1 WDR73 SMAD2 FGF3 UFD1 MED13 MRAS STAMBP BIN1 MAT2A POMT1 WRAP53 CSPP1 GTF2IRD2 KL RNF125 VPS37D GRIP1 BRF1 EFEMP2 KCTD1 FOXG1 STEEP1 PDGFRB SF3B4 CUL4B EXT2 ANKLE2 PEX6 IARS2 GNB2 ADA2 HNF1B MAN1B1 GPR101 PKHD1 IDUA NGF GEMIN4 CRIPT IVNS1ABP SH2B1 CAVIN1 TNFRSF11A NHP2 TCTN1 GALNS AGL PEX10 CDKN1C SCN9A GRIA4 SOX18 AIFM1 ACTL6B TBL2 SHANK3 RSPH3 HEY2 NEDD4L CYBB PIK3CD WDR4 ERBB3 OBSL1 TBX15 UBR7 KCNK4 SSR4 ALMS1 FCGR2A FARS2 FGFRL1 CPLX1 CDH1 TINF2 RPL26 PUF60 IL1RAPL1 MYLPF SRCAP BCR MMP2 KLHL41 OCRL PRKCD GTF2H5 TASP1 ARNT2 RNF168 RAD21 ITGA7 BRCC3 PURA JMJD1C LRRC32 MAGT1 MYH11 IGFALS WBP11 DNA2 NIPBL CUL7 OCA2 UPF3B GLI3 SEC31A ATP6V1B2 NSUN2 SMCHD1 FHL1 RPL15 ACTA2 STIL CANT1 CCDC22 IKBKB EDNRA UBA1 BNC2 CPE TFAP2B ADAMTSL1 PIK3R1 ABCD4 PIGU TBCK POU1F1 RPL31 B4GALT7 RBM10 MTHFR LEMD3 BRAT1 KIDINS220 CTC1 SRY RREB1 REV3L TRMT1 CSNK2A1 WASHC5 RPS17 FBXW11 ALX4 COL6A1 CILK1 PRRT2 NSD2 GAD1 MYT1L RPS15A WT1 TMEM231 INPPL1 FOXE3 BBS7 CA2 FOXF1 PIGV COL6A2 FBXL3 POLA1 TBC1D20 SLC39A14 UBE2A VANGL2 VPS13A CDK5 GATAD2B CNOT2 DGCR8 KIF14 DLX4 GLB1 IRX5 GRIA3 ABAT ANKRD55 MAF MRPS22 PKDCC PIGF PIK3CA RHOA LRRC8A SPOP ASPH AFF3 COG6 ACTG2 HBA2 FAM149B1 POMGNT1 NPM1 PRMT7 ARX SEMA5A MED25 PGAP3 LEMD2 PALS1 KDELR2 PEX11B PCGF2 C1S IL2RB IL2RA RPGRIP1 FUT8 SIX2 NCAPG2 CNOT1 MSX1 AGRN ASXL3 SPRED1 MLXIPL PGM1 EIF4A3 IL21R BCL11A CDC45 TRRAP KDM6B BAZ1B HSD17B4 PIGO ADGRG6 RTEL1 PIK3C2A HYOU1 NTNG2 HBA1 VPS53 PEX13 YARS1 CAV1 BICD2 THOC6 FKBP6 DNAAF5 CLDN4 HTT TRIP13 TCTN2 SMG8 HP_BROAD_CHIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_CHIN KANSL1 SLC12A2 STEEP1 WAC DYRK1A TAF1 STXBP1 EBF3 LMX1B HP_CHIN_WITH_HORIZONTAL_CREASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHIN_WITH_HORIZONTAL_CREASE FOXP1 TWIST2 TRPS1 DLK1 RTL1 EED MEG3 HP_ABNORMAL_ORAL_MUCOSA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ORAL_MUCOSA_MORPHOLOGY C1R LMNB1 GTF2I PIGA SH3PXD2B F7 TBC1D2B KRT6B GJB6 TERT CDKN2B LAMB3 ITGA6 CCR1 ZAP70 MEFV RTEL1 COL17A1 TNFAIP3 NGF SMAD4 F13A1 NTRK1 FAS ANTXR2 ECM1 FIP1L1 DHCR24 SERPINF2 IER3IP1 HPS1 NHP2 FAM20C AIMP2 MAP1B ABCC6 ZEB2 LMAN1 GJB2 IL7R TSC2 MGAT2 SBDS SC5D PLAGL1 BCOR NXN TBL2 ATP6V1B2 CYBB SLC46A1 ENG SRP54 FIG4 MIA3 ITGB4 GUSB IL17RC KCNMA1 PARN KCNK4 SAA1 NOD2 NFIX DVL1 DKC1 ITGB2 PIGN VAC14 ALMS1 ROR2 STAT4 DVL3 WDR1 WAS REST LAMC2 NCF1 TINF2 HYMAI INSR KIF23 F8 COL3A1 DNAJC30 PDGFRB ERAP1 NAGA SETBP1 AEBP1 MMP2 COL7A1 CD96 BCL7B OCRL KRT14 DCLRE1C PML C1S SAMD9 HLA-DQB1 ORAI1 SLC35C1 NOP10 IL23R F5 FAT4 CNTNAP1 PLG LAMA3 CDKN1B IL1RN GP1BA ELN SLC29A3 NOTCH2 GLI1 EIF4H RIN2 ZBTB16 ABCC9 STK11 ITGB3 LYST IRAK1 SLC37A4 CD27 BUD23 KRT4 FGB NLRP3 OSTM1 ATG7 ABCA5 CLDN3 CYBA DSG3 TBC1D24 KRT5 MYSM1 MMP14 STAT3 FGFR2 GP1BB IL10 XYLT2 EVC2 FERMT1 STAT5B USP9X KCNJ6 KCNN3 F10 GP9 EXTL3 PRKAR1A XYLT1 CDKN2C KCNH1 FGG CTC1 CDKN1A AGA VPS13B FZD2 IL18BP BLOC1S5 TMEM270 SLC6A19 IRF9 CXCR4 SOS1 PLEC ITGA2B MYD88 GFI1 UBAC2 GTF2IRD1 ACD HYLS1 DYNC2LI1 ZNHIT3 ELMO2 KLRC4 TERC EMC1 PTPRC CTSC GLB1 C4A IDS ACVRL1 NLRP12 TBCK NABP1 WNT5A MCFD2 BLOC1S3 GORAB RARA PRF1 B4GALT7 JAK2 NCF2 LBR SYK METTL27 TLR4 KIF7 KYNU CAT WDR26 CYBC1 MPL IL21 TMCO1 NOTCH3 CARMIL2 IFNG FGA TBL1XR1 PIGS KRT16 PLEKHM1 ADAMTS3 IL12A-AS1 EDA ADA2 TGDS MVK LMBRD1 MMP1 AFF3 DNAJC21 RFC2 AP3B1 NCF4 EFL1 NPM1 ITK PRMT7 NEU1 SCARB2 TCIRG1 NUMA1 KRT17 CD40LG FCGR2C IRF2BP2 IL10RA GNPTAB RIPK1 GBA RASGRP1 CLIP2 DSP IL6 EVC RMRP ABHD11 TET2 ABCD1 SLC17A5 MMACHC KLLN ELANE CASP10 FAM20A CCBE1 MAN2B1 LAT2 STX1A DDR2 ASXL3 HLA-B SPP1 LIMK1 MTX2 BAZ1B FGF3 F2 ADAMTS2 IL12A WIPF1 PERP TSC1 RIPK4 HYOU1 KIF1A WRAP53 DHCR7 RALGAPA1 USB1 GTF2IRD2 RHOH CLTRN PRKCD KRT6A HLA-DQA1 RNF125 FKBP6 GNAQ MEN1 CLDN4 IDUA VPS37D FASLG PRKDC MLXIPL RELA F13B MBTPS2 TCTN3 GLMN TRPV3 HP_OVERHANGING_NASAL_TIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERHANGING_NASAL_TIP PRKACA COG4 TCF4 METTL5 ATN1 TGFB3 HP_MOYAMOYA_PHENOMENON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOYAMOYA_PHENOMENON BRCC3 RNF213 GUCY1A1 PCNT RNASEH2C RNASEH2B RNASEH2A ACTA2 ADAR TREX1 IFIH1 SAMHD1 HP_ABNORMALITY_OF_T_CELL_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_T_CELL_PHYSIOLOGY SLC39A4 TNFRSF13B CASP10 TBX1 SEC24C GATA3 UMPS LCP2 COMT RASGRP1 MRTFA CTPS1 JMJD1C MAGT1 EPG5 RAB27A UFD1 CD3E PNP CIITA JAK3 CARMIL2 RAG2 ESS2 DGCR2 LEP WAS FAS GP1BB LEPR RFXANK ICOS COG6 FASLG WIPF1 RFXAP ARVCF ADA CR2 SMARCAL1 RAG1 RFX5 CD19 NSMCE3 DGCR6 RREB1 HLA-DRB1 TNFRSF13C CASP8 HIRA CD40LG TGFB1 AK2 DGCR8 PGM3 HP_ABNORMAL_STERNAL_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_STERNAL_OSSIFICATION CPLX1 NFIX CTBP1 CD96 FIG4 VAC14 LETM1 ORC6 NSD2 SOX9 FGFRL1 ORC1 HP_ABNORMAL_ILIAC_WING_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ILIAC_WING_MORPHOLOGY PTH1R ATP7A FLNA TMEM251 GLB1 GPX4 TRPV4 IHH SMAD4 TBX15 GNPTAB ZBTB20 GATA1 TRIP11 DYM SEC23A CREBBP RTL1 VPS33A RAB23 PCNT RIPK4 PLEKHM1 AMER1 DDR2 NANS MEG3 GPC3 ARSB SOX9 EIF2AK3 RNU4ATAC WNT7A RPS6KA3 CCBE1 HDAC6 COL2A1 MMP13 GALNS PEX5 TRAPPC2 COL11A2 GNPTG SEC24D IDUA FUZ B3GALT6 PHEX FGFR3 ERCC6 AIFM1 ERCC8 BGN EP300 FN1 RUNX2 EED EZH2 VANGL1 GPC4 EVC DLK1 MATN3 EVC2 HP_ABNORMAL_PLATELET_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLATELET_FUNCTION A2ML1 IKZF5 ITGA2B PTPN11 LCP2 GP1BB NRAS RIT1 KCNJ1 FLI1 RASGRP2 SAMD9L LYST WIPF1 KRAS ABCG8 WAS MRAS RAF1 NBEAL2 GUCY1A1 GNAS GP1BA LZTR1 CALR EPHB2 THPO SH2B3 VWF GP9 CISD2 RUNX1 SLC35A1 ITGB3 CBL AP3B1 P2RY12 DTNBP1 RRAS RASA2 SOS2 GATA1 BLOC1S3 TBXA2R RRAS2 MGAT2 PLAU BLOC1S5 SOS1 HPS6 PLA2G4A HP_IMPAIRED_RISTOCETIN_INDUCED_PLATELET_AGGREGATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_RISTOCETIN_INDUCED_PLATELET_AGGREGATION ITGB3 IKZF5 ITGA2B GP9 GP1BA GP1BB HP_ABNORMAL_PLATELET_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLATELET_MORPHOLOGY RUNX1 SH2B3 NBEAL2 SC5D IKZF5 TP53 HPS4 MPL TET2 GATA1 CALR ACTN1 AP3B1 ITGB3 ITGA2B BLOC1S5 HPS3 HPS6 JAK2 LYST WIPF1 GFI1B SLC35A1 WAS HP_ABNORMAL_PLATELET_VOLUME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLATELET_VOLUME SKIV2L SLC35A1 CDC42 GP1BB ITGB3 GP1BA MYH9 FLNA FYB1 TTC37 ABCG8 SC5D CD36 ACTN1 LBR ITGA2B WAS ARPC1B GP9 GATA1 TUBB1 PRKACG HP_ABNORMAL_PLATELET_MEMBRANE_PROTEIN_EXPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLATELET_MEMBRANE_PROTEIN_EXPRESSION SLC35A1 GP9 ITGB3 GP1BA ITGA2B GP1BB HP_ABNORMAL_PLATELET_GRANULES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLATELET_GRANULES RUNX1 NBEAL2 HPS3 IKZF5 HPS4 HPS6 LYST GFI1B AP3B1 SLC35A1 BLOC1S5 HP_ABNORMAL_UMBILICAL_STUMP_BLEEDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_UMBILICAL_STUMP_BLEEDING F13B F2 F13A1 F10 SERPINF2 HP_HEMORRHAGE_OF_THE_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMORRHAGE_OF_THE_EYE RB1 SF3B1 NDP FZD4 ABCC6 TET2 ZNF408 ENPP1 MYD88 BAP1 GCDH CFHR1 XYLT2 ERCC6 CTNNB1 LRP5 RS1 CAPN5 CFH IKBKG PROC GNA11 COL4A1 APOE HMCN1 IFNG BEST1 CFI CYSLTR2 RANBP2 ERCC8 TSPAN12 ATP6V1E1 XYLT1 ATOH7 DNM2 GNAQ ZEB2 TERC TERT SBDS CFHR3 TREX1 PRF1 ATP6V1A ATP6V0A2 EFEMP1 HP_BLEEDING_WITH_MINOR_OR_NO_TRAUMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLEEDING_WITH_MINOR_OR_NO_TRAUMA F8 LMAN1 KRT1 F13A1 MCFD2 F13B HP_PROLONGED_BLEEDING_FOLLOWING_PROCEDURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_BLEEDING_FOLLOWING_PROCEDURE VWF IKZF5 ITGA2B ITGB3 F8 GP1BB GP1BA KIF23 P2RY12 F7 F2 F5 LMAN1 MCFD2 F13B SLC37A4 F13A1 GP9 SERPINE1 F10 F11 HP_POST_PARTUM_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POST_PARTUM_HEMORRHAGE F7 F8 F2 F5 IKZF5 F13A1 SERPINE1 F10 KIF23 F13B HP_ABNORMAL_LEUKOCYTE_COUNT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LEUKOCYTE_COUNT RNU4ATAC RAG1 FCHO1 UROS ADA2 LACC1 IFNGR1 TNFRSF13B TREX1 KRAS CPA1 CARD9 ZAP70 MEFV TNFAIP3 CBL CLPB CUBN IVNS1ABP IL2RG FAS FIP1L1 DCLRE1C EFL1 GATA1 PIK3R1 CD247 TET2 RFXAP SGPL1 MMUT TPP2 AGA IRF2BP2 ICOS IL7R CAPN3 PDGFRB COG4 LAT SBDS BACH2 BCOR STAT3 RPS27 GFI1 RFWD3 MAD2L2 CIITA ERCC4 PIK3CD SLC46A1 OTUD5 SRP54 IRAK4 PTEN RPS20 MMAB MPL ELANE DOCK8 ITGB2 DNMT3B ZNF699 LCK IKZF3 WDR1 WAS AK2 ERCC2 FCGR2A HLA-DRB1 RPS29 SLC7A7 RPS10 CORO1A TNFSF12 TRAF3 BTK RPL26 PCCA SLC35A1 ETV6 RFX5 CD79A RNASEH2B CSF3R ADH5 SRSF2 UBE2A ADA PRKCD GTF2H5 PML RPS24 NFKB1 PIGA ATM CASP10 RECQL4 NFKB2 LCP2 RPL27 FANCI BCR SLC35C1 SOCS1 EIF2AK3 LMNB2 SREBF1 BRCA2 MAGT1 IGLL1 FAT4 CDC40 MPLKIP FBXL4 STAT1 SAMD9L JAK3 TLR3 IL1RN RAG2 G6PD SPINK1 HLA-DPB1 FANCG NHEJ1 MECOM SEC61A1 PRF1 VPS13B ITCH RUNX1 FOXP3 ZBTB16 PACS2 DDX41 FANCA TCN2 LIG4 RPL15 LYST BCL10 USB1 TINF2 IRAK1 PSMB9 FMO3 CASK SAMD9 UNC93B1 SLC37A4 TARS1 IKBKB NLRP3 TGFB1 LPIN2 DNAJC21 MDM4 MTRR IGHM ABCD4 MYSM1 RIPK1 FANCB DLL4 RAC2 BCL11B NBN IKBKG GTF2E2 HBB XRCC4 FOXN1 LRBA RPL31 HAX1 STAT5B FANCE IL36RN ABL1 TONSL MS4A1 EXTL3 IL6R PRKAR1A FANCF NOTCH1 RPS17 CD40 AMN MYC MSN CTLA4 SARS2 PRDX1 NSMCE3 RAB27A BRCA1 G6PC3 CXCR4 PNP IL7 IL2RA CASR ASXL1 RAD51C NRAS RPS28 SALL4 RPS15A ATRX VPS45 CD19 RBPJ STK4 EOGT KNSTRN RPL18 STAT2 SLC27A4 CD3D CD3E MVK KIT HELLS ATP6AP1 PRSS2 IVD CD81 CD3G UNC13D RPL35 RPL35A LEP PTPRC SPINK5 LEPR PKHD1 RFXANK OTULIN STAT4 PGM3 CD8A FANCC SLX4 NLRP12 STXBP2 FCGR3B TERT NABP1 TRNT1 NLRP1 TSR2 TERC TFR2 RRAS2 RARA LAMTOR2 LBR SYK CARD11 RNF113A LIPA PDGFRA MYD88 CD4 CHD7 STING1 ANKRD26 XRCC2 CDCA7 TBK1 CYBC1 STX11 CTPS1 TTI2 EPG5 IL21 DOCK2 RPL5 IFNG TBL1XR1 ERCC3 LRRC8A UNC119 CFTR RPS7 ADAMTS3 ARPC1B LMBRD1 TAFAZZIN RPS26 AP3B1 ERCC6L2 FASLG DNASE1 UBE2T TTC37 SF3B1 PSMB4 CTRC RPS14 GINS1 ITK RAD51 TDP2 MTHFD1 SCARB2 TCIRG1 CASP8 NUMA1 RBM8A CD40LG SP110 FCGR2B ZPR1 MMAA RASGRP1 ZNF341 GATA2 SEMA3E GBA SMARCD2 SH2D1A SMARCAL1 MMACHC AP3D1 CALR RMRP IKZF1 MCM10 JAGN1 GSS TFRC CD79B ZBTB24 TICAM1 TRAC FDX2 FUT8 CR2 RPL11 WIPF1 JAK1 BTNL2 FANCD2 RPS19 JAK2 FERMT3 FANCL TCF3 HTRA2 IL6ST NPM1 NCKAP1L RTEL1 SPP1 TBXAS1 CXCR2 BLOC1S6 HMGCL SKIV2L ARHGAP31 BLNK CCBE1 VPS33A FIBP PTPN22 HYOU1 ACP5 TNFRSF13C PCCB ALG12 IL37 PPIL1 ATP6AP2 DKC1 DOCK6 BLM ANAPC1 PRSS1 XIAP ACAT1 BRIP1 FANCM PALB2 TNFRSF1A HP_NEUTROPHILIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUTROPHILIA PIK3CD TLR3 IL1RN TRAF3 SRSF2 SLC35C1 TICAM1 MEFV TBK1 ASXL1 RAC2 IL36RN TET2 MVK UNC93B1 OTULIN KIT HP_ABNORMALITY_OF_CIRCULATING_FIBRINOGEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CIRCULATING_FIBRINOGEN PRF1 FGG SLC4A1 SPTA1 XIAP NGLY1 EPB42 ZBTB16 SPTB STXBP2 ANK1 HELLPAR STX11 NABP1 LYST SLC7A7 NLRC4 CFI GNA14 UNC13D RARA MCM10 HAVCR2 TBL1XR1 FGB BCOR STAT5B NUMA1 FGA NPM1 AHCY STAT3 PML IRF2BP2 FIP1L1 CFH CD46 PRKAR1A HP_ABNORMAL_HEMOGLOBIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HEMOGLOBIN RPS28 RPL11 HBB NSMCE2 RPS15A KLF11 ATRX HBG2 CYB5A SRP54 RPL27 ADA2 BLK APPL1 HBG1 RPL18 RPL5 HBD CYB5R3 RPS20 YIPF5 KLF1 PDX1 HBA1 CD151 PAX4 RPL31 KCNJ11 GCK ABCC8 RPL35 SBDS HNF1A RPL35A HBA2 EPOR RPS29 CEL RPS10 GATA1 RPS26 INS THPO RPS24 NEUROD1 RPL26 HNF4A RPL15 TSR2 RPS19 RPS7 RPS17 RPS27 MPL DNAJC21 MDM4 MTX2 HP_PERSISTENCE_OF_HEMOGLOBIN_F http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERSISTENCE_OF_HEMOGLOBIN_F RPS29 RPS28 RPL11 RPS10 GATA1 RPS26 RPS15A HBG2 HBG1 RPS24 SRP54 HBB RPL27 ADA2 RPL26 RPL18 RPL15 RPL5 TSR2 RPS19 RPS20 KLF1 RPS7 RPL31 RPL35 SBDS RPS17 RPS27 RPL35A DNAJC21 MDM4 HP_ABNORMALITY_OF_METACARPOPHALANGEAL_JOINT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_METACARPOPHALANGEAL_JOINT NOG PTPN2 FLNA HFE COL3A1 COL2A1 B3GAT3 PTPN22 RNF13 ASXL1 CHST3 POR NONO MAP3K7 IL2RB IL2RA ANKRD55 PQBP1 MYLPF GDF5 CD247 STAT4 HP_ABNORMALITY_OF_THE_GLENOID_FOSSA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_GLENOID_FOSSA DYM TMEM251 LMX1B SCARF2 DLK1 ORC1 RTL1 MEG3 HP_CARDIOVASCULAR_CALCIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIOVASCULAR_CALCIFICATION B2M NT5E ABCC6 GALNT3 ENPP1 NKX2-5 RNASEH2C HGD ERCC6 ABCG5 SLC34A2 LMNA GBA FBN1 SMAD6 LDLRAP1 IFIH1 SAMHD1 LDLR GATA5 ABCG8 RNASEH2B RNASEH2A SLC20A2 NOTCH1 APOB ZMPSTE24 ADAR TREX1 STAT1 ERCC8 PDGFRB MTX2 PCSK9 PDGFB HP_ABNORMAL_ACTIVITY_OF_MITOCHONDRIAL_RESPIRATORY_CHAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ACTIVITY_OF_MITOCHONDRIAL_RESPIRATORY_CHAIN NDUFS4 QRSL1 PTCD3 SURF1 PET117 COX5A NDUFAF4 EARS2 COX6A2 COX20 NDUFS7 NDUFAF2 COA6 TRMT5 PET100 NDUFV2 MRPS23 TK2 GFER COA8 TIMM22 NDUFA9 NDUFA12 NDUFAF6 TXN2 SUCLG1 NDUFS1 NDUFS2 NDUFB11 IBA57 NDUFS3 SDHB COX15 NDUFA11 MRM2 NDUFA10 SDHD ATP5F1E MT-ND2 NDUFAF5 GTPBP3 NDUFA2 TSFM MRPS14 CARS2 NDUFA13 MT-TE SDHA ISCU DGUOK NDUFV1 MTFMT SLC39A8 COA3 KARS1 NDUFB10 NDUFA4 NDUFAF8 TIMM50 MT-ND3 NDUFAF3 TIMMDC1 NDUFS6 NFU1 LRPPRC COX16 NDUFA1 NDUFA8 NDUFC2 MIEF2 MRPS25 GATC TACO1 NFS1 LIPT1 SLC19A3 FOXRED1 NUBPL SLC25A26 NDUFA6 ACAD9 SLC25A10 TRMU MT-ND1 MRPL12 NDUFB9 COX4I1 NDUFS8 GFM1 BOLA3 NDUFAF1 NDUFB3 PDHA1 ECHS1 TMEM126B SUCLA2 HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_I http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_I NDUFS4 QRSL1 PTCD3 NDUFB10 NDUFAF5 NDUFS2 NDUFAF8 MT-ND3 NDUFAF3 TIMMDC1 NDUFAF4 EARS2 NDUFS6 SUCLG1 NDUFS7 NDUFA1 NDUFA8 NDUFAF2 TXN2 NDUFV2 NDUFC2 MIEF2 MRPS23 GATC FOXRED1 NUBPL TIMM22 NDUFS3 NDUFS1 SLC25A26 NDUFB11 IBA57 NDUFA6 NDUFA11 ACAD9 MRM2 SLC25A10 TRMU NDUFV1 MT-ND1 MRPL12 MT-ND2 NDUFB9 GTPBP3 GFM1 TSFM CARS2 MT-TE NDUFS8 ISCU NDUFAF1 NDUFB3 TMEM126B HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_III http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_III NDUFS4 QRSL1 TXN2 SUCLG1 GFM1 TSFM CARS2 MIEF2 ISCU GATC NFS1 EARS2 TIMM22 HP_SHORT_DIGIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_DIGIT ATP7A RNU4ATAC DYNC2LI1 A2ML1 CCDC32 MGP ALX3 SH3PXD2B SUFU KMT2D TRIP11 STX16 MIR17HG WDR19 RAB23 GNAS TCTN3 WDFY3 SMAD4 ARSL DCPS GATA1 GATA5 CBL SPEN MAP2K1 NEXMIF ACVR1 CTSK SIN3A SOS2 NOG COG4 MRPS16 NIN SLURP1 PITX1 NKX2-5 POU1F1 BMPR1B PLXND1 GJA1 KCNA1 CSGALNACT1 NXN ADAMTS10 KCNMA1 SOS1 RPS27 SDHC HUWE1 PIGN FIG4 NRAS CTBP1 HOXD13 PRKCZ CDKL5 PLAG1 DYNC2I2 SYP SHH SIK3 SALL4 DLG3 RSPRY1 FGFR2 GPC4 VAC14 ZNF699 ROR2 MEG3 GPC3 ZIC1 MTOR DYNC2I1 SIK1 EXT1 RPS29 RPS10 PTCH1 ZDHHC9 MEGF8 POP1 KIF15 COL2A1 GDF5 ATP6V1B2 RRAS2 SETBP1 FBN1 KCNJ2 FGF9 FLNA TRPS1 RPS24 FTSJ1 ARID1A CHN1 ACSL4 ZNF711 CNKSR2 EPB41L1 JARID2 TBL1XR1 MID2 SLC2A1 DMXL2 BICRA ARID2 SLC35C1 PIGB RAB3GAP2 PDE4D FGFR3 ZMIZ1 DVL1 ATRX C12orf57 GDF1 RECQL4 PTCH2 CHSY1 PGAP2 ARID1B RPS6KA3 GLI1 ACAN HMGA2 USP27X CITED2 NEK1 JAG1 SVBP RRAS SMARCA2 CDH11 AFF4 TANC2 FGFR1 MED27 COL10A1 BRD4 HOXA13 RUNX2 KAT6A SDHD RAI1 GLI2 MED12 PPP1CB NPR2 PTDSS1 RBPJ HSPG2 DLL4 TBX15 KAT6B SMC1A PIGO DISP1 FANCE PHF6 USP9X MIR140 DOCK3 MACROH2A1 EXTL3 CLCN4 NOTCH1 LMNA KCNH1 POMP GHR SATB1 PDPN LTBP3 CEP120 RPS28 RPL10 TBX1 RIT1 BMP2 PIGL PTEN GDF6 RPL18 DEAF1 SLC25A24 ESCO2 RAF1 IFT80 BCOR ZNF41 PIGQ FANCA KDM1A ZNF81 ZIC2 IFT43 SMC3 FGD1 TNNT3 TELO2 LHX4 ALX1 NELFA BMP4 PRKAR1A PAK3 MGAT2 PAX3 MASP1 FTO EVC TMEM67 SIX3 COMP MAP3K7 PSMD12 SHOX GJB3 LMNB2 RAG1 HS2ST1 RAD21 ACP5 EDA CWC27 ZBTB20 PUS7 LTBP2 BHLHA9 PIGS HESX1 PDE6D SPECC1L PPP3CA TFAP2A RAG2 DONSON LUZP1 BRIP1 RLIM WDR35 FLNB RPS26 ACTL6A MAPK8IP3 WNT5A PIGW TAF1 B3GLCT IGF2 SLC26A2 CRKL IFT122 FN1 USF3 CPLANE1 CHRNG IFT140 GATA4 PGM3 SLC25A22 PIGG PAPSS2 PALB2 PRKACB ALOX12B SHOC2 ARHGEF6 RPL5 ZMPSTE24 GGCX SCN2A POGZ SCUBE3 ADAMTS17 ALG8 KDM6A LETM1 NEUROD2 SMARCE1 WAC NLRP3 CCDC22 TTC21B TMEM216 TRIP12 NEPRO FANCD2 RPS19 PCYT1A DNMT3A SMARCA4 ABCA12 BGN BPNT2 ASXL1 MAPK1 OFD1 IQSEC2 EVC2 ALG6 PIGY RPL11 SDHB ABCC9 TRPV4 DPYSL5 STEEP1 RIN2 IFT172 IHH DDX6 DYNC2H1 MED13 MRAS IL1RAPL1 WIPI2 RIPK4 STAMBP KCNN3 LZTR1 IFT57 FGF8 CSPP1 TGFBR2 RBBP8 DYRK1A LZTFL1 ADA POR DOCK6 GRIP1 RMRP TWIST1 PCNT EDA2R CHST11 FAM111A AKT1 KDSR PDGFRB SNX14 CUL4B KMT2E HDAC8 IARS2 GNB2 KCNJ8 ADA2 ITGB6 ARL6 MYCN RTL1 EXOSC2 MMP23B MCTP2 CRIPT SLC9A7 ANTXR2 DCLRE1C FAM20C PTHLH FZD2 FRMPD4 CDKN1C PTCHD1 KIAA0753 WASF1 EFNB1 ARX GRIA4 PPM1D PTH1R AIFM1 CHST3 ACTL6B PIGP COL11A1 MSX2 KRAS KLLN NKX2-6 MEIS2 ERF IL7R OBSL1 MIA3 BPTF RERE PTPN23 CASK RPS20 UBR7 KCNK4 BBS1 NFIX WNT4 LHX3 BBS4 ALMS1 ADNP AHSG DVL3 FGFRL1 YY1AP1 CPLX1 KIAA0586 HPDL RPL26 SMARCC2 COL11A2 GNAS-AS1 PUF60 BCORL1 KDM4B SRCAP CEP55 HDAC4 BCR CHD7 DMD AGO2 TASP1 IFT52 POC1A PTPN11 SIL1 RPL27 FANCI CAMK2G TRIM8 GMNN INTU SOX11 GJB4 RAB39B GDI1 KDM5C MECOM EIF2AK3 NOTCH2 ALG13 CUL7 PNKP MECP2 GLI3 UBE2T NSUN2 RPL15 DHCR7 UBE4B PORCN STIL CANT1 CNOT3 MAGEL2 PIK3CD TCF20 TFAP2B PIGK FGF10 TBC1D24 PIK3R1 KIF7 MYSM1 KAT8 GPX4 ALOXE3 MYMK TBX3 KMT2A RPL31 UPF3B TONSL LSS CHRNA1 GJA5 LIG4 BBS5 INPP5K REV3L TRMT1 CSNK2A1 WASHC5 TRAPPC4 RPS17 FBXW11 STXBP1 CILK1 MADD NSD2 MYT1L BRCA2 RPS15A ARHGAP31 MAFB EOGT KNSTRN NTNG1 TRIO FLII RPL35 INPPL1 LRP4 PIGV RPL35A LONP1 DHODH FANCC SCN1B SLC12A2 AGTR2 CCDC28B TSR2 RAC1 PDE3A SPART TCF12 DPF2 FLT4 CNOT2 NIPBL SEMA3E CLCN7 PIK3CA SMARCB1 IRX5 GNAO1 PROP1 DYM MAF PLCB3 PKDCC PIGF RHOA SOX9 LBR CHRND BRAF HBA2 APC BBIP1 FAM149B1 DYNLT2B PAH SMARCD1 PRMT7 PGAP3 PALS1 RB1 SOX4 TBX5 RDH11 SMARCD2 CHRNA7 SLX4 FANCF EHMT1 SLC35D1 TBX22 KCNAB2 RPS7 EIF4A3 TSPAN7 IL2RG NBAS SKI SF3B4 ADAMTS2 SEC23B GATA6 PIK3C2A CASZ1 SNRPN PRDM16 NTNG2 HBA1 BBS9 ZFPM2 FLI1 VPS35L MKKS RASA2 MBTPS1 HTT PNPLA6 RAD51C HCFC1 COX4I1 TNRC6B ASAH1 KLF13 GABRD DLK1 IFT81 HP_ABNORMAL_SUPERIOR_CEREBELLAR_PEDUNCLE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SUPERIOR_CEREBELLAR_PEDUNCLE_MORPHOLOGY FLI1 ARL3 CSPP1 NPHP1 TMEM216 LAMA1 INPP5E TMEM67 KIAA0586 AHI1 CEP290 HP_ELONGATED_SUPERIOR_CEREBELLAR_PEDUNCLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELONGATED_SUPERIOR_CEREBELLAR_PEDUNCLE ARL3 CSPP1 NPHP1 TMEM216 LAMA1 INPP5E TMEM67 KIAA0586 AHI1 HP_HYPOPLASTIC_FIFTH_TOENAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_FIFTH_TOENAIL SMARCB1 SMARCD1 SOX4 ARID2 DPF2 HOXA13 SMARCC2 ARID1B SMARCE1 SOX11 PPP2R5D ARID1A SMARCA4 HP_RESPIRATORY_TRACT_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_TRACT_INFECTION TNFRSF13B RNU4ATAC SH3KBP1 TRPS1 RAG1 SATB1 MGP STX1A HERC2 IFNGR1 SLC18A3 TPM3 GAA KMT2D TRIP11 PTPN22 VPS51 KRAS DNAAF1 TAPBP LAMB3 CRLF1 NTRK1 DLL1 TDGF1 MBTPS2 ARSL MYH6 EGFR IER3IP1 NFE2L2 CACNA1B CCNO CD247 TET2 SIX3 TPP2 AGA IRF2BP2 IL2RG TGM1 MYO9A BACH2 CFI GRHL3 CCDC65 FOXH1 NXN SLC6A14 FGF8 KATNB1 STAT3 PTPRO NGLY1 HACD1 CCDC39 SRP54 CTBP1 ZAP70 CCDC103 GLI2 IRAK4 MAGI2 DYNC2I2 PARN SUCLG1 NDN ZNF699 NDUFC2 CTCF ROR2 ARSB LCK WAS AK2 ERCC2 LAMC2 SCNN1B MESP2 DNAAF11 COG4 GAS8 NCF1 CREBBP BTK TBX20 NEK10 TGFB1 TGIF1 GUSB KCNN4 RFX5 CD79A SETBP1 INF2 PRPS1 SNRPN CFAP410 GNS SLC25A1 UBE2A BCL7B DNAH5 PTCH1 NFKB1 DISP1 ATM EDNRA CACNA1C COL13A1 CEACAM6 ARID2 PPP1R21 NFKB2 SHH SLC35C1 SOCS1 RAB3GAP2 COL5A1 RSPH4A SELENON FCN3 IGLL1 ALB NPHS1 FAT4 MPLKIP PLG SCNN1A DNAH9 JAK3 FUCA1 UBB CHAT ELN ARID1B MAGEL2 NODAL IL17RC EIF4H ABCA12 TTC12 GLUL SNAP29 PLP1 DOCK8 AFF4 DNAJB13 USB1 DNAAF6 CD27 IDUA TARS1 RAG2 BUD23 TYK2 LRRC56 FOXJ1 SNORD116-1 NHLRC1 PSMB8 CLDN3 MANBA SMN1 AICDA FLNA COL6A1 MDM4 PMM2 SPTBN4 IGHM SLC12A6 NUP205 RIPK1 LYST TIMMDC1 TBCD RAC2 DZIP1L ODAD3 LAMA2 DDR2 PWRN1 DNAAF3 FOXN1 MKRN3 MIR140 PWAR1 EXTL3 TBCE EDARADD STK36 FCGR3A LAMB2 DNAI1 TMEM270 PSAP BCL10 G6PC3 CXCR4 LTBP3 PNP RFXAP IL2RA WT1 PTCD3 SIM1 NUP133 CD19 ODAD2 STX3 POLR3A DNMT3B SLC25A24 TAP1 CD3D CD3E HELLS RSPH1 ICOS ALOXE3 CD81 CD3G PTPRC ITCH CSF2RB RFXANK IDS MYL2 UNG CD8A ATP6V0A2 FCGR3B SLC46A1 NELFA TNFSF11 DRC1 GBA FGFR1 NFKBIA SBDS TRIP4 MGAT2 NUP85 NCF2 CARD11 RNF113A EFEMP2 METTL27 FLNC PEPD BLM CD4 CLCN7 MYSM1 SPEF2 TSC1 STING1 CDCA7 ACP5 SLC34A2 CTPS1 IL2RB EPG5 IL21 TNFRSF13C DCLRE1C CD79B NADK2 UMPS P4HTM CARMIL2 PLOD1 MS4A1 ERCC3 UNC119 PLEC CFTR COL6A3 OCA2 DNAJC21 RFC2 AP3B1 TRIM37 ELP1 NCF4 IKZF1 CITED2 IL17F CTSC NKX2-1 CRKL FOXP1 MCIDAS NME8 ACTC1 NOS1 TAF1 ALG12 NEU1 IL7R ORC6 CASP8 ODAD4 INPPL1 ACTA1 SP110 PGM3 PIGG ARID1A FBLN5 ABCA3 KIF20A PRTN3 DNAH1 STAG2 RASGRP1 SERPINA1 ZNF341 HLA-B ITGA3 CLIP2 AP3D1 ABHD11 EPM2A ZBTB24 SNAP25 ELANE APOL1 MYH3 SCNN1G SMARCE1 WAC ALOX12B IFIH1 DNAI2 HLA-DQA1 LEP KDM6A CR2 CRB2 NEPRO EP300 SAMD9 SFTPB ZIC2 SPAG1 NUP107 SMARCA4 ZMYND10 TRPC6 HMOX1 MAPK1 IL6ST PLCG2 DNAL1 GAS2L2 TNNI3 ALMS1 GNPTAB TNFSF12 WIPF1 TBC1D23 VPS33A SCN10A KIF1A TBC1D24 WRAP53 CCDC40 CSPP1 SGSH GTF2IRD2 TBX6 SLC9A3 RNF125 LAMTOR2 ADA TCF3 VPS37D PRKDC ARHGAP24 OFD1 SMPD1 MAP3K20 PCNT DSG1 TCTN3 RMRP CSF2RA ALPL PKP1 KAT6B LMNB1 GTF2I FCHO1 CFAP221 MYO1E HLA-DPA1 TECPR2 PDHA1 TERT TNFRSF11A PKHD1 IVNS1ABP DNAAF2 ECM1 NHP2 PIK3R1 GALNS MAN2B1 P4HA2 SGCG LAT COL11A2 ODAD1 GIPC1 GATA4 SDCCAG8 CHAMP1 SIK1 TBL2 MCM4 RSPH3 CIITA CYBB CLEC7A PIK3CD ERF KATNIP TRAIP RYR1 GCLC PYROXD1 NFIX B2M SLC26A9 DKC1 IGBP1 TSC2 TBC1D8B PIGN DNAH11 ADNP FCGR2A WDR1 RELB DPM2 TNNT2 TPM2 CORO1A KIAA0586 TINF2 ASXL1 SMARCC2 COL4A5 DNAJC30 GSN SLC35A1 SYT2 TREX1 BCR SLC26A2 POLA1 RPGR OCRL PRKCD GTF2H5 DCTN4 TASP1 TLL1 ARHGDIA RNF168 SHROOM4 ITGA7 CRELD1 XIAP HFE PURA PET117 COLQ GMNN IKBKB SREBF1 TFG MYO1H MAGT1 MYL9 ACTN4 BIRC3 STAT1 GSTM3 CPLX1 RANBP2 SLC29A3 TRAF3IP2 KDM5C RUNX2 NOTCH2 DNAAF4 NIPBL SCN9A DAAM2 GLI3 CD2AP NPHS2 CDON GATA6 FMO3 SULT2B1 CCDC22 KANSL1 CYBA AASS MYOD1 MALT1 IL17RA CLCA4 NBN GTF2E2 MASP2 LRBA MECP2 LIPN SIAH1 USP9X WDR19 KCNJ6 TONSL SLC11A1 IL6R NR2F2 SFTPC PEX5 LETM1 CYP4F22 MSN CTC1 KNSTRN LIG4 ANKFY1 NECTIN1 WASHC5 COQ8B CTLA4 SLC5A7 HPS6 LEPR SOX11 NSD2 NRAS PANK2 GFI1 EXOSC9 GTF2IRD1 NUP37 SDR9C7 POLE ASAH1 SPINK5 ZNHIT3 DYM TAP2 TERC FOXP3 NUP160 HGSNAT GLB1 POLR2A ANLN RSPH9 RAC1 SDHD NAGLU COL4A3 GAS1 DPF2 SNX10 SYK ATP6V1B2 PAX2 SMARCB1 MIF CYBC1 GAPVD1 HLA-DRB1 PEX13 NOP10 CFAP298 LRRC8A CHD7 ADAMTS3 COL4A6 HK1 CEACAM3 ADA2 HLA-DQB1 SMARCA2 DLL3 LONP1 HLA-DPB1 SCN11A EFL1 NPM1 LAMA3 SMARCD1 EMP2 MTHFD1 TCIRG1 TK2 CD40LG MED25 HYDIN PLCE1 SOX4 SMC1A SAMD9L MYO5A SMARCD2 SH2D1A TIMM8A FUZ NUP93 FANCF PCGF2 COL5A2 EHMT1 JAGN1 TFRC ACADVL NIPAL4 LAT2 COL6A2 MYPN AGRN CFAP300 IL12RB1 PAFAH1B1 NKX2-5 CHRM3 SLC25A22 GATA2 CD55 IL21R KPTN STXBP2 LIMK1 PLA2G6 CFB BAZ1B BLNK COG6 UGP2 CCBE1 SLC52A3 RTEL1 VAMP1 FLI1 SLC1A4 NDE1 FKBP6 DNAAF5 OSTM1 CLDN4 NPAP1 MLXIPL SNORD115-1 IRF8 TNFRSF1A HP_RECURRENT_ACUTE_RESPIRATORY_TRACT_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_ACUTE_RESPIRATORY_TRACT_INFECTION TAPBP PLEC TAP2 PLCG2 TAP1 SLC35C1 SDCCAG8 HP_ACUTE_INFECTIOUS_PNEUMONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_INFECTIOUS_PNEUMONIA SCNN1G CFTR SCNN1A SCNN1B CSF2RB CSF2RA HP_ASPIRATION_PNEUMONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASPIRATION_PNEUMONIA PTCD3 DLL1 PURA SOX4 FOXH1 ARID2 SHH PANK2 TDGF1 STAG2 CDON SMC1A TPM3 KNSTRN PTCH1 TFG KMT2D MYO1H PDHA1 ZIC2 TIMM8A SLC25A24 EPM2A GLI2 GAS1 CRLF1 ASAH1 UBB NTRK1 ARID1B FGF8 SMARCE1 NODAL HLA-DQA1 GLB1 MYL2 KDM6A SNAP29 DISP1 SIX3 AFF4 SAMD9 PAFAH1B1 FGFR1 SMARCA4 SDHD LMNB1 GRHL3 DPF2 GIPC1 PIK3CD NHLRC1 ATP6V1B2 PLA2G6 SMARCB1 PMM2 TBC1D24 HACD1 ACTA1 GBA NADK2 NFIX IGBP1 PIGN SELENON CSPP1 COL4A6 HLA-DQB1 TGIF1 TPM2 LONP1 KIAA0586 SMARCC2 COL4A5 MAP3K20 SMARCD1 NOS1 TAF1 SP110 SOX11 ARID1A ITGA7 HP_RETINAL_PERFORATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_PERFORATION NDP HLA-A CTNNB1 GUCA1A GUCY2D PRPH2 HP_SUBSTANTIA_NIGRA_GLIOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBSTANTIA_NIGRA_GLIOSIS FBXO7 MAPT GLUD2 ATXN8OS TBP ATXN3 NR4A2 PRKN ADH1C LRRK2 SNCAIP SNCA GBA ATXN2 HP_NON_OBSTRUCTIVE_AZOOSPERMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NON_OBSTRUCTIVE_AZOOSPERMIA DAZ3 GNRH1 CHD7 SYCE1 FGF17 TEX14 FANCM NANOS1 DAZ1 MEIOB TEX15 TACR3 DDX3Y TSPY1 ZMYND15 HS6ST1 TAF4B XRCC2 FGF8 CFTR KISS1R WDR11 DAZ4 CFAP47 FGFR1 KISS1 TEX11 TDRD9 RBMY1A1 KLHL10 C14orf39 SYCP3 GNRHR SOHLH1 TAC3 USP9Y NR5A1 DUSP6 NSMF DAZ2 PROKR2 PROK2 SPRY4 HP_OBSTRUCTIVE_AZOOSPERMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OBSTRUCTIVE_AZOOSPERMIA TEX11 TDRD9 SYCE1 TEX14 FANCM KLHL10 ADGRG2 C14orf39 NANOS1 SYCP3 MEIOB CFTR TEX15 SOHLH1 NR5A1 ZMYND15 TAF4B XRCC2 CLDN2 HP_ABNORMAL_CIRCULATING_CITRULLINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_CITRULLINE_CONCENTRATION MT-TV CPS1 SLC25A13 MT-ND3 MT-ND2 MT-ND4 PCK1 MT-ATP6 MT-TW SLC25A15 MRM2 MT-TL1 MT-ND5 OTC SLC7A7 MT-ND1 MT-ND6 MT-TK AASS HP_DECREASED_CIRCULATING_COPPER_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_COPPER_CONCENTRATION TMPRSS6 COG2 ATP6AP1 CP AP1B1 AP1S1 HP_FEEDING_DIFFICULTIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEEDING_DIFFICULTIES ERCC2 ATP7A DYNC2LI1 A2ML1 FOXE1 CCDC32 COLEC10 CCDC47 CACNA1A CHRNB1 PDE10A HERC2 SLC18A3 TPM3 ERCC8 KMT2D CAMK2B DPM1 VPS51 RNASEH2A STT3A NSUN2 HNRNPK GRIK2 SLC9A6 WDR19 KANSL1 AIMP1 HNF1A CYP11B2 TCTN3 ASH1L NTRK1 RERE DLL1 GABRB2 TDGF1 WDFY3 MBTPS2 TRAPPC4 WASHC4 ARSL AVPR2 MYO9A STRADA CDK19 CEP41 AQP2 SLC13A5 IER3IP1 BRAF KDM5B ANKRD11 UBE4A AIMP2 CBL SPEN PEX3 MAP2K1 SIX3 NEXMIF CHRNE SEC63 FGF12 CDK13 SIN3A PEX12 SOS2 KCNK9 ZSWIM6 TSHB MRPS16 MDH2 POU1F1 RAPSN GRHL3 EZH2 CNKSR2 LIAS ASXL2 PLXND1 CARS2 FOXH1 INPP5E CHRNA1 FGF8 KCNMA1 MTHFS BCS1L TUBB3 SOS1 SPG11 TRPM3 MAP2K2 TP63 LIPT2 NTRK2 SLC46A1 SNRPN TCTN1 CLCF1 RAC3 HACD1 TRAK1 HUWE1 NRAS ASL ACADS GPT2 USP7 GLI2 PRKCZ PLAG1 NDUFAF3 OTUD6B SLC1A2 MMAB PIGP SUCLG1 NDN FAT4 SHH NALCN EMG1 PEX5 KBTBD13 ARCN1 DMPK CHRND PLP1 ZNF699 DLEC1 CTCF EFTUD2 MEG3 CDT1 SRP54 UQCRFS1 MTOR EXT2 FKRP PQBP1 DYNC2I1 COG4 TMEM237 CUX1 CREBBP FDFT1 POLE PCCA GRIN2D TGIF1 KIF15 RARS2 TSEN2 CNTN1 MT-ND1 B3GALNT2 PEX19 RRAS2 RFT1 UGDH SETBP1 ATP6V1A CLCNKA COG5 SLC25A1 NDUFS8 PTCH1 DISP1 UBA5 ARID1A SELENON ADNP LMNA EPB41L1 JARID2 COL13A1 RECQL4 DNM1 BICRA ARID2 NEB UBE3B PPP1R21 CYP11A1 IYD SCYL2 SLC6A3 AHI1 MBD5 COMT UBE3A PIGB ALG11 RAB3GAP2 ZMIZ1 HLCS DCHS1 COG1 FGFR2 PGAP1 SCNN1A PGAP2 SH3BP2 ORC4 UBB ARHGAP29 GSC DEAF1 CHAT SHOC2 GBA POMK ARID1B MAGEL2 NODAL IL17RC SERAC1 TANGO2 ALDH18A1 PACS1 HRAS ITCH HMGA2 RRM2B SRPX2 CTBP1 COQ9 SVBP RRAS CYFIP2 TOR1A AFF4 TANC2 PPP2R1A FGFR1 DLK1 DNM1L MED27 TAOK1 GMPPB TPM2 BPTF IDUA BRD4 AARS1 HNMT GOT2 AP1S2 HADH SCN3A KAT6A SYNGAP1 HTT PNPO COX8A DPYS ATG7 FBN1 DGUOK OPA1 CISD2 HIRA VRK1 SNORD116-1 NHLRC1 NECAP1 HNRNPH2 EEF1A2 COL6A1 PMM2 TBX1 SPTBN4 CC2D2A SETD5 HIVEP2 PSAP SLC12A2 STXBP1 H19 SIM1 HSPG2 TIMMDC1 TBCD EXOSC3 DHCR24 LARGE1 MYPN DZIP1L PLA2G6 EHMT1 WWOX GMPPA TCF4 NDUFS4 PWRN1 AUTS2 TXN2 FKTN CLPB SDHB CASK GFPT1 NKX2-1 SATB2 MECP2 STAG1 MKRN3 DOCK3 PDSS2 PWAR1 PPP3CA QRICH1 ADAT3 ATP6V1E1 NDUFS3 CPT2 SUFU GLE1 CLN8 PEX10 SDHA TRMU NCDN DLD PET100 TPO IGF2 VPS13B DALRD3 COX6B1 RTL1 LAMB2 EIF5A EDEM3 SATB1 MN1 GAA CRADD SMARCB1 PDPN SUCLA2 CEP120 PTCD3 TRAPPC11 ABCC8 GAS1 HIBCH RIT1 AHDC1 PIGL POLR3A ARMC9 NAGS SYNJ1 SLC25A24 RAF1 GABBR2 KMT2A IFT80 BCOR SIGMAR1 PEX26 GRM7 CLTC PRKCSH TRIO BMP4 TIMM22 PEX14 PPP2CA NUP214 MYL2 IBA57 NDUFS1 HOXB1 VAMP1 ZIC2 SMC3 ACTB HADHA TELO2 LHX4 CPLX1 TBCK RAC1 ZC3H14 TRIP4 MGAT2 CEP104 NAA15 SCO1 MED23 TH PEX16 CDC6 SLC16A1 MAP3K7 LMOD3 CELF2 RELN PSMD12 FARSB CLIP1 HECW2 FOXG1 HS2ST1 HCN1 ZC4H2 METTL23 FARSA CWC27 CUL3 VPS4A FLAD1 PUS7 PRSS12 SON ACTL6B NFU1 MPDU1 NACC1 DUOX2 NDUFAF2 ERCC6 NFIX PIGS HESX1 PDE6D EN1 LUZP1 COL6A3 SETD1B AGTPBP1 RLIM OCA2 DPYD ACTL6A ARV1 MAPK8IP3 ELP1 PIGW FOXP2 ANK1 SLC7A7 B3GLCT HS6ST2 PIGQ NDUFV1 FGF13 IL17F KCNA2 GALT FOXP1 TET3 RSRC1 ALG3 ALG12 WAC SNRPB ALDH7A1 ORC6 KRT17 NDUFAF1 IFT140 DDX6 HADHB COG7 RAB11B SCN1A MAN1B1 ENPP1 KIF5A MMAA STAG2 KCNB1 GATA6 KMT2E HCCS AP3D1 MRPS34 RHBDF2 COQ2 EPM2A POGZ EDC3 ALG8 MMACHC COX10 SNAP25 MYH3 PIGT NSD1 KDM6A NTNG1 SMARCE1 SLC26A4 FOXRED1 SYT1 LMBRD1 PAX8 KLHL7 ADGRG1 CENPT UFM1 DST WDR26 CIC GABRA5 CA12 TTC21B TMEM216 TRIP12 MRAS NEPRO HSPD1 MOCS2 GRIA4 CACNG2 CACNA1B SCO2 CPLANE1 SMARCA4 MTRFR PREPL SOX5 MYH8 KATNIP ASXL1 WARS2 KCNJ11 ANKRD17 KLHL40 RNF6 IQSEC2 PYCR2 ALG6 NECTIN1 YY1 PIGY TMEM67 RPGRIP1L NDUFAF5 CLTCL1 DHDDS NDUFAF8 DPYSL5 SLC25A15 CTNS SUZ12 GNAI3 ATAD3A SCN8A IFT172 MT-ND3 DYNC2H1 NDUFS6 UFD1 MED13 PI4KA YWHAG MBOAT7 UNC45B SNX10 KIF1A LZTR1 GALNT2 ALS2 TBC1D24 POMT1 KCNQ2 BCKDHA ACTA1 RALGAPA1 CSPP1 PCCB SMC1A ASPA ABCD1 RNASEH1 GP1BB STAC3 SKI DYRK1A BRAT1 ATRX MED12L RETREG1 PIEZO2 DOCK8 COL7A1 BLM ANAPC1 NUS1 NDUFB8 DLG1 SURF1 MAP3K20 RAB3GAP1 RYR1 PHGDH DHFR ACSF3 SZT2 TSEN54 NPHP1 MMUT HBB EED RMND1 DYNC1H1 CCDC88A NEMF FUS OFD1 TREX1 KAT6B KRT6A MCCC1 SEPSECS LMNB1 PEX6 HDAC8 GALK1 BUB1B ZNHIT3 CFL2 KRAS PTPN23 KRT6B PDHA1 GALC MIPEP TRPV6 SPOP TGFBR2 COL2A1 MMP23B PKHD1 LINGO1 UCP2 SARS1 SH2B1 FCSK ANTXR2 SPTBN1 PLCB4 DHX30 TXNL4A MFF UFSP2 NDST1 CDKN1C CDH15 KIAA0753 WASF1 SCNN1B SCN4A ARL13B PRKD1 PPM1D SLC16A2 SLC52A1 ERCC1 MT-TE CHAMP1 SIK1 CSNK2B ZMYND11 SHANK3 TRAPPC9 TRAPPC12 EP300 CBY1 ARL3 CLEC7A GABRA2 OTUD5 BCKDHB CRBN CARS1 CDKL5 SLC35A2 SMARCC2 UBR7 TOP3A SSR4 ERGIC1 LHX3 COX16 CLCNKB PPP1CB SPATA5 PIGN UNC80 PSAT1 FARS2 DPM2 SLC6A8 CDH1 PLPBP ATP6V0A2 IFIH1 KIAA0586 CASR EPRS1 HPDL PHF6 PUF60 COL4A5 GMNN UBTF GTPBP3 TP53RK SYT2 BCORL1 NRXN1 KDM4B SRCAP NDUFB9 NARS2 CHD7 PNPT1 KLHL41 OCRL AGO2 TASP1 MRPL3 SETD1A FRRS1L CLCN6 ISCA1 RAD21 TALDO1 ITGA7 SEC24C PURA PTPN11 COLQ YIF1B SLC5A5 TFG NDUFAF4 GPHN JMJD1C MYO1H MEF2C PRPS1 ORC1 TLK2 TSHR IARS1 TCTN2 SDHAF1 NOVA2 TRAF7 NDUFV2 BRSK2 TRAF3IP2 ASNS LINS1 BSND ACTN2 PBX1 CDON SMPD1 DPAGT1 RNF13 DHCR7 TSPOAP1 SETD2 UBE4B PARS2 MT-ND2 KIRREL3 STIL TSFM CCDC22 TBL1XR1 CNOT3 RAB11A TUBB6 TGFB1 PIBF1 PIK3CD TCF20 AASS SCNN1G SCN9A COQ7 DCX MTRR SAMHD1 MOGS ABCD4 KIF7 ABCC6 KAT8 NDUFS2 KRT14 GCDH PIGU MICOS13 B9D1 RPL10 FLNA MKS1 MYH7 ELN GRIN2B PLAA NDUFA1 SLC45A1 PEX2 CPT1A GFM2 GRIN1 KDM1A ZNF462 USP9X GSX2 NUBPL TBC1D20 ZNF292 TSEN15 ARVCF NFASC ATP10A SARS2 COX7B PRDX1 NSMCE3 RREB1 REV3L TRMT1 CSNK2A1 RPS6KA3 WASHC5 NR3C2 CC2D1A CDK8 MAMLD1 SLC5A7 FBXW11 TSEN34 SOX11 STX3 CAMK2A MADD SDHD MYT1L PSPH TRMT10C WDR73 RPS28 EXOSC9 KNSTRN RAI1 C12orf4 PEX1 NKX2-5 NDUFS7 FLII MTO1 LRP5 C2CD3 HYLS1 FOXP3 PIGG MTHFR PIGV KCNQ5 NBEA ALG14 GLB1 POLR2A ARSA PTS EDN1 MED25 NDUFB11 LRP4 ADARB1 GABRG2 ACTG1 APC2 UQCRC2 POLR3K POLG2 DPF2 TECR GATAD2B CNOT2 BRPF1 NIPBL SEMA3E DLX4 ATP6V1B2 LIFR IQSEC1 LMAN2L ZNF148 NHLRC2 IRF6 PROP1 ITPA NLRC4 MYMK TMCO1 PEX13 ST3GAL3 ALDH6A1 MARS2 BIN1 COL4A6 ALDH4A1 HK1 DCPS ADA2 SMARCA2 UFC1 NONO DYNC2I2 COL1A1 LONP1 MED12 IL17RA NDUFA6 NDUFB10 MSL3 FAM149B1 MOCS1 STT3B POLA1 TTC5 FBXO31 SMARCD1 FLCN PRMT7 TK2 ARX LYRM4 PGAP3 EZR SLC5A6 PALS1 PANK2 AP3B2 SOX4 LAMA2 GNPTAB POMT2 MED17 BTD PEX11B SNIP1 FUZ EXOSC8 AIFM1 MTM1 PCGF2 CLDN16 ACADVL PMPCB GNB1 MCCC2 CNP FMN2 KRT5 THOC2 FUT8 NCAPG2 CRLF1 MSX1 COL6A2 KCNAB2 POLR1B TMEM106B AGRN NDUFA11 ASXL3 TG ATXN7 ALKBH8 GLRX5 DEGS1 WNK1 PAFAH1B1 MLXIPL CAVIN1 WFS1 EIF4A3 SLC25A22 TNIK HPCA HTRA2 CDC45 TRRAP UBA1 BCL11B ODC1 HSD17B4 PHOX2B NDUFB3 RNF2 ST3GAL5 PIGC CLCN4 UGP2 HNF1B PIGO SLC25A19 LRPPRC KDM3B CASZ1 PRDM16 DUOXA2 NTNG2 LHX1 YARS1 SET FLI1 SLC1A4 BICD2 TSPYL1 ERCC5 RASA2 NPAP1 UQCC3 HIKESHI TNRC6B GFM1 ASAH1 KRT16 TUSC3 GABRD TMEM126B DDC LAGE3 DBT SNORD115-1 EPG5 MTR HP_CEREBRAL_AMYLOID_ANGIOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_AMYLOID_ANGIOPATHY PSEN2 ITM2B APP CST3 APOE HP_HYPOGLYCORRHACHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOGLYCORRHACHIA SLC2A1 TLR3 TRAF3 UNC93B1 TICAM1 TBK1 HP_MYELOFIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYELOFIBROSIS SH2B3 NBEAL2 TP53 MPL TET2 CALR JAK2 SHOC2 SRC MPIG6B GFI1B TBXAS1 HP_ABNORMALITY_OF_NEUTROPHIL_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_NEUTROPHIL_PHYSIOLOGY PMM2 SBDS SRP54 DNAJC21 LCP2 SLC35C1 RAC2 NCF1 CYBC1 CYBB LYST NCF2 EFL1 CYBA GPI CEBPE HP_ABNORMAL_NEUTROPHIL_COUNT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NEUTROPHIL_COUNT NRAS RPS28 RPS15A ATRX VPS45 GFI1 ADA2 STK4 RPL18 KRAS KIT CD79A RPL35 SBDS MEFV FOXP3 CBL CLPB CUBN RPL35A FAS FANCA FIP1L1 RFXANK OTULIN EFL1 CXCR4 TPP2 GATA1 PGM3 FANCC SRSF2 STXBP2 RFXAP FCGR3B MMUT AGA NABP1 ICOS IL7R RAC2 TSR2 COG4 TFR2 RARA PRF1 LAMTOR2 RFX5 LBR BCOR RNF113A STAT3 RPS27 MAD2L2 ASXL1 CIITA PIK3CD SLC46A1 SRP54 TBK1 STX11 IRAK4 RPS20 MMAB PNP RPL5 PIK3R1 ELANE IFNG TBL1XR1 WAS ERCC3 LRRC8A SLC37A4 WDR1 RPS7 ERCC2 MVK RPS29 LMBRD1 TAFAZZIN RPS10 RPS26 DNAJC21 TRAF3 BTK AP3B1 FASLG RPL26 PCCA TET2 SF3B1 SLC35A1 ETV6 GINS1 CSF3R TDP2 UBE2A TCIRG1 NUMA1 CD40LG GTF2H5 PML IRF2BP2 RPS24 CASP10 RECQL4 RPL27 FANCI SLC35C1 MMAA EIF2AK3 GATA2 TCN2 SMARCD2 SH2D1A RASGRP1 SMARCAL1 IGLL1 MMACHC AP3D1 CDC40 MPLKIP RMRP FBXL4 UNC13D SAMD9L TLR3 IL1RN JAGN1 GSS TFRC CD79B TICAM1 FANCG MECOM SEC61A1 FDX2 FUT8 VPS13B ITCH RUNX1 ZBTB16 RPL11 PACS2 RPL15 LYST FANCD2 USB1 RPS19 FMO3 SAMD9 UNC93B1 TARS1 HTRA2 STAT1 NPM1 MDM4 CXCR2 MTRR IGHM ABCD4 MYSM1 BLNK WIPF1 VPS33A GTF2E2 FIBP LRBA RPL31 HAX1 ACP5 STAT5B FANCE PCCB IL36RN TONSL PRKAR1A PPIL1 PRKCD RPS17 CD40 AMN MSN TCF3 TERC ANAPC1 TERT PRDX1 RAB27A RAG1 XIAP G6PC3 HP_ABNORMALITY_OF_NEUTROPHIL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_NEUTROPHIL_MORPHOLOGY LBR MYH9 AMN SLC19A1 CUBN FTCD SMARCD2 LYST CXCR4 SF3B1 CEBPE RPS14 TET2 HP_IMPAIRED_NEUTROPHIL_BACTERICIDAL_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_NEUTROPHIL_BACTERICIDAL_ACTIVITY CYBC1 CYBB LYST NCF2 RAC2 CYBA GPI CEBPE NCF1 HP_POSTPRANDIAL_HYPERGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTPRANDIAL_HYPERGLYCEMIA GYS2 GABRA3 SCN4A CACNA1S SLC2A2 INSR SHPK KCNE3 KCNJ18 HP_PARANOIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARANOIA CPOX VPS13A DMPK PRDM8 DGCR6 TBP ESS2 DGCR2 TBX1 PLA2G6 ECM1 IMPA1 PPOX DGCR8 FMO3 TIMM8A HMBS SNCA HP_FOCAL_COGNITIVE_SEIZURE_WITH_DEJA_VU_JAMAIS_VU http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_COGNITIVE_SEIZURE_WITH_DEJA_VU_JAMAIS_VU RELN NPRL3 GAL NPRL2 LGI1 DEPDC5 MICAL1 HP_LENS_LUXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LENS_LUXATION C12orf57 MOCS2 COL2A1 PAX2 FBN1 MOCS1 COL11A1 HP_HYPERGALACTOSEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERGALACTOSEMIA GALT SLC25A13 GALE GALK1 GALM HP_HEPATOCELLULAR_ADENOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATOCELLULAR_ADENOMA HNF1A CEL PHKA2 PHKG2 PAX4 KLF11 KCNJ11 PRKAR1A NEUROD1 ABCC8 INS SLC37A4 GNAS BLK HNF4A APPL1 GCK PDX1 HP_ABNORMAL_URINE_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_HORMONE_LEVEL CYP17A1 CYP11B1 CDKN1B TP53 PRKAR1A ARMC5 NR3C1 HP_INCREASED_URINARY_CORTISOL_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_URINARY_CORTISOL_LEVEL CDKN1B TP53 PRKAR1A ARMC5 NR3C1 HP_LIPOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIPOMA PIK3CA RPL10 SDHC VANGL2 AKT1 SDHB MSTO1 VANGL1 TAF1 ALX3 PTEN SEC23B CCL2 CDC73 FUZ APC USF3 SDHD FGFR1 ZSWIM6 TBXT KLLN HP_CORNEAL_STROMAL_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORNEAL_STROMAL_EDEMA ZEB1 COL8A2 OVOL2 SLC4A11 VSX1 GRHL2 TGFBI HP_DECREASED_FERTILITY_IN_MALES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_FERTILITY_IN_MALES CATSPER2 GATA4 ARMC2 CFAP58 SUN5 STRC SPAG17 CFAP221 DNAH1 ODAD2 RSPH4A SPEF2 DDX3Y DNAAF2 BRCA2 CFAP70 XRCC2 FANCE DNAH9 MCIDAS NR5A1 ZFPM2 DNAI2 FANCA DNAAF4 FANCI LHCGR DAZ2 TTC12 GCM2 DAZ3 SYCP2 DNAAF1 CATSPER1 DNAJB13 CTNS SLX4 MAP2K1 DAZ1 CFAP300 PTPN11 PPP2R3C CCNO DRC1 CCDC65 SPATA16 AIP FOXJ1 SPAG1 FANCL ZMYND10 RBMY1A1 DNAI1 WT1 CYP19A1 NEK10 ODAD1 CFTR SRY VAMP7 DMRT3 RFWD3 RSPH3 CYP17A1 DNAL1 ERCC4 CLDN2 DNAH10 TEX11 GAS2L2 PMFBP1 DNAH8 CCDC39 FANCB ADGRG2 AR MEN1 DNAAF6 TSPY1 MNS1 KLHL10 DNAH2 ODAD3 CDH23 RSPH9 CYB5A SOX9 ALMS1 AMH DNAH11 DNAAF3 CFAP65 FCGR2A CATIP DNAH17 CCDC40 CCDC103 USP9Y WWOX CFAP47 FANCF M1AP GAS8 FANCC TGFB1 BRAF ACTL9 MAP3K1 RSPH1 DNAAF5 NR0B1 BLM UBE2T DHX37 FANCG OFD1 GALT HSD3B2 DAZ4 RAD51 C14orf39 AURKC DZIP1 NME8 BRCA1 DNAH5 ODAD4 RPGR BRIP1 FANCD2 AMHR2 DNAAF11 CFAP298 LRRC56 HYDIN FANCM CEP112 PALB2 TTC29 STK36 MAD2L2 RAD51C HP_PENDULAR_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PENDULAR_NYSTAGMUS LRP5 CNGB3 NUP62 CACNA1A TBL1XR1 SCN1A PDE6C CRB1 CRX ATOH7 RPGR CLTCL1 NT5C2 PDE6H TMEM63A CARS1 ADAR MT-ATP6 GNAT2 OPN1LW CNGA3 SDHD AIPL1 P4HTM OPN1MW DNMBP PLP1 ATP1A2 RPGRIP1 OPN1SW TMEM231 FRMD7 PRRT2 TENM3 ATF6 PLA2G6 HMGB3 SH3TC2 HP_SEESAW_NYSTAGMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEESAW_NYSTAGMUS CACNA1A SCN1A TMEM231 PRRT2 CLTCL1 ATP1A2 HP_RETINAL_FLECKS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_FLECKS PROM1 RDH5 RHO PRPH2 RLBP1 BEST1 ZFYVE26 HP_HEMERALOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMERALOPIA GUCY2D ATXN7 GRM6 SAG NR2E3 CNGA3 NYX CEP78 HP_OROMANDIBULAR_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OROMANDIBULAR_DYSTONIA VPS13A THAP1 SIGMAR1 SLC39A14 ALS2 SPG11 VPS16 ATN1 KMT2B COASY COL6A3 FUS C19orf12 ANO3 TIMM8A PANK2 HP_LARYNGEAL_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARYNGEAL_DYSTONIA VPS13A KCTD17 GNAS THAP1 FTL STX16 GNAL KMT2B COL6A3 TUBB4A PRKRA HP_ANASARCA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANASARCA PMM2 DPAGT1 FARSB UBR1 PLVAP HP_REACTIVE_HYPOGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REACTIVE_HYPOGLYCEMIA MEN1 UCP2 HNF1A GLUD1 ALDOB YY1 PCSK1 HP_LOW_SERUM_CALCITRIOL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_SERUM_CALCITRIOL DMP1 CYP3A4 CYP2R1 CYP27B1 ENPP1 LRP5 HP_CHOROIDAL_MELANOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOROIDAL_MELANOMA CYSLTR2 GNAQ SF3B1 DMPK BAP1 GNA11 HP_CUTANEOUS_MELANOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTANEOUS_MELANOMA CDKN2A MMP1 NRAS CDK4 MITF MC1R ERCC3 COL7A1 WRN BRAF XPC CXCR4 BAP1 OCA2 POLH HRAS STK11 HP_BONE_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BONE_CYST PIK3CA B2M SDHC NF1 AGPAT2 SDHB TYROBP TREM2 KRAS BTNL2 ZBTB20 PTEN PDGFRB SEC23B NOTCH3 FOS SH3BP2 HLA-DRB1 USF3 SDHD VDR GNAS AKT1 BSCL2 PPARG CAV1 KLLN FGFR1 CAVIN1 HP_ABNORMAL_CIRCULATING_ACETYLCARNITINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_ACETYLCARNITINE_CONCENTRATION LMBRD1 ACAD8 SLC52A1 COX16 HADHA MMACHC CPT2 ACAD9 ACADS SLC25A20 TANGO2 HADH HADHB HP_PERSONALITY_DISORDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERSONALITY_DISORDER RORA CUX2 GABRB3 SPG21 XK KCNT1 DNM1 CBS CHD2 SCN1A WAC MAPK10 CACNA1A TOR1A CYP27A1 SGCE KCTD17 DRD2 HP_ENLARGED_CEREBELLUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_CEREBELLUM ZEB2 HRAS PTEN BICRA FGFR3 KDM1A HP_ABNORMALITY_OF_SKELETAL_MUSCLE_FIBER_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SKELETAL_MUSCLE_FIBER_SIZE TPM2 PPARG TTN NEB CFL2 SELENON COL12A1 RYR1 ORAI1 MYH14 GARS1 GNE OPA1 AIFM1 MYOT GIPC1 ASCC1 ANO5 COL6A2 KLHL41 ACTN2 MYH7 CAV3 MICU1 STAC3 TPM3 MSTO1 KY POPDC3 ACTA1 TRIM32 HPDL NOTCH2NLC TRIP4 SGCG STIM1 POLG DYSF HNRNPA2B1 LAMA2 DPM3 NEFH LMOD3 TCAP COL6A1 TWNK HNRNPA1 LMNA DNAJB6 MYPN CRYAB SGCB SUCLG1 CCDC174 KBTBD13 UNC45B NDUFA4 CASQ1 POMT1 COL6A3 FHL1 SQSTM1 VCP POMT2 ITGA7 CLCN6 LRP12 HP_ABNORMAL_URINARY_COLOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINARY_COLOR PYGM STAT4 TSC1 TSC2 GATA1 CPOX BLVRA CPT2 UROS ABCC2 SLC6A19 DMD ALAD SPP1 UROD IRAK1 CLTRN HMBS HP_ABNORMAL_MITOCHONDRIAL_SHAPE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MITOCHONDRIAL_SHAPE MYH14 FDXR SLC25A3 MFF SUCLG1 HP_ABNORMAL_PANCREAS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PANCREAS_MORPHOLOGY TMEM107 RERE ENPP1 DIS3L2 TMEM231 VHL HNF1B GATA6 MYCN PRSS1 SPEN RECQL4 CPA1 PKD1 NPHP3 OFD1 PRSS2 KCNJ11 TCTN3 WDR19 SPINK1 MMP23B PTF1A PKHD1 CTRC FOXF1 GCK RPGRIP1 KCNQ1OT1 CNOT1 EFL1 CEL KCNAB2 TCTN1 NEUROD1 TELO2 B9D2 NEK1 CDKN1C HNF4A CFTR FANCD2 CSPP1 UBE4B PDX1 SBDS STAT3 DNAJB11 SRP54 RFX6 INS ASXL1 MKS1 SETBP1 GANAB SKI STRA6 TMEM216 ABCC6 KLF11 PKD2 BLK BICC1 APPL1 PRKCZ HSPG2 KCNQ1 DZIP1L SIK3 CASZ1 CC2D2A PRDM16 PAX4 XPNPEP3 LHX1 CCND1 ABCC8 PTRH2 HNF1A RARB DYNC2I1 FLI1 SLC29A3 RPGRIP1L GLIS3 ALG9 LUZP1 TMEM67 FLNB DNAJC21 B9D1 IGF2 TCTN2 RBM8A TXNDC15 GABRD PDPN CP CASR TMEM237 CEP290 HP_ABNORMALITY_OF_PANCREAS_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PANCREAS_PHYSIOLOGY PPARG ABCC8 GPC4 MT-TS1 UBAC2 MAFA SLC16A1 HLA-DPA1 STX1A FLI1 HNF1B PRSS1 SLC37A4 MT-ND6 CPA1 CDKN2B OFD1 MEN1 ATP6AP1 PRSS2 KCNJ11 MEFV DNAJC21 CCR1 SBDS KLRC4 UCP2 TGFB1 C4A CASR EFL1 FAS CTNS MT-TS2 MMUT GPR35 PDX1 LMF1 INS SLC6A14 LMNA CBS STAT3 TLR4 VHL CFTR MT-TH NSMCE2 BCKDHB TCF4 DIS3L2 CDC73 MIF CYBC1 BLK GCLC MT-CO1 NADK2 SLC26A9 PAX4 MADD ALMS1 GPC3 GNAS FCGR2A STAT4 SRP54 PALLD IL12A-AS1 BRCA1 CEACAM3 LBR SLC7A7 HLA-DPB1 PCCA SEMA4D PUF60 IKZF1 CDKN1B KCNN4 CTRC ERAP1 MT-TW TKFC DCTN4 ACTG2 MT-ND4 EDNRA CEACAM6 HFE HNF4A PRTN3 IFT172 CDKN2A BRCA2 MT-TL1 SERPINA1 EIF2AK3 IL23R PNPLA2 GATA6 HLA-B GCGR FAH LPL GSTM3 UBR1 SPINK1 YY1 GCK RABL3 COX4I2 MT-CO2 ABCB4 CEL NEUROD1 JAG1 HJV SMARCAL1 SLC25A13 MT-ND1 APOE HMOX1 MT-ND5 BSCL2 APOC2 NDUFS3 GNA11 HMGCL KLF11 MT-CO3 IL10 APPL1 IL12A TP53 CLCA4 ARX MST1 XPNPEP3 PTRH2 HNF1A SMAD4 BCKDHA HAMP PCCB YARS1 AP2S1 NFS1 STUB1 MT-TF SLC11A1 PTPN22 SLC9A3 CDKN2C MT-TQ AGPAT2 INSR CDKN1A ATP8B1 G6PC1 CIDEC KRAS CTLA4 CAV1 DBT PALB2 HP_ABNORMALITY_OF_EXOCRINE_PANCREAS_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_EXOCRINE_PANCREAS_PHYSIOLOGY CEACAM6 HFE KLF11 SRP54 CDKN2A BRCA2 MIF BLK SERPINA1 STX1A EIF2AK3 APPL1 HNF1B GATA6 GCLC PRSS1 TP53 CLCA4 PDX1 OFD1 ATP6AP1 SLC26A9 GSTM3 ARX PAX4 MADD KCNJ11 UBR1 SPINK1 DNAJC21 ABCC8 PTRH2 SBDS HNF1A SMAD4 CTRC PUF60 FCGR2A PALLD YARS1 TGFB1 RABL3 BRCA1 COX4I2 CFTR CEACAM3 SLC11A1 EFL1 SLC9A3 CEL CTNS NEUROD1 PRSS2 JAG1 HNF4A GCK KCNN4 HMOX1 INS SLC6A14 KRAS STAT3 DCTN4 PALB2 EDNRA HP_ABNORMALITY_OF_ENDOCRINE_PANCREAS_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_ENDOCRINE_PANCREAS_PHYSIOLOGY LBR HNF4A ABCC8 GPC4 PAX4 CDKN2C MAFA SLC16A1 DIS3L2 KCNJ11 INSR MEN1 HNF1B CDKN1A CDKN1B HJV GCGR CDKN2B PDX1 FAH STAT3 INS YY1 GPC3 GCK HAMP EIF2AK3 UCP2 VHL HP_ABNORMAL_PANCREAS_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PANCREAS_SIZE STRA6 CNOT1 PTF1A CEL KLF11 DNAJC21 NEUROD1 CDKN1C BLK HNF4A APPL1 HNF1B GATA6 IGF2 KCNQ1 EFL1 GCK ABCC8 KCNJ11 PDX1 SBDS STAT3 SRP54 PAX4 INS RFX6 LHX1 PTRH2 HNF1A RARB KCNQ1OT1 SLC29A3 GLIS3 HP_MULTIPLE_JOINT_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_JOINT_DISLOCATION KIF22 EXOC6B B3GALT6 B3GAT3 RNU4ATAC GNB2 CHST3 HP_EDEMA_OF_THE_DORSUM_OF_FEET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EDEMA_OF_THE_DORSUM_OF_FEET PLAA RBM8A ZNHIT3 RNF13 TGM1 HP_ABNORMAL_CIRCULATING_CREATININE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_CREATININE_CONCENTRATION CFHR1 CFI CFHR2 CD46 CFHR3 CFH CTNS CORIN C3 THBD PKD2 BICC1 FLT1 TMEM260 MUC1 STOX1 AVPR2 CCND1 ADAMTS13 PKD1 TREX1 DBH WDR19 FAN1 DNAJB11 CFB HNF1B HBB GALNT2 HPRT1 ELP1 INVS GANAB NT5E CC2D2A ALG9 COQ7 HP_ABNORMAL_MITOCHONDRIAL_NUMBER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MITOCHONDRIAL_NUMBER DNA2 CHCHD10 PET117 GYG1 MGME1 HP_ABNORMALITY_OF_THE_MITOCHONDRION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_MITOCHONDRION NDUFS4 PTCD3 SLC25A3 FUS SURF1 MT-TN MT-TS1 HIBCH DNM1L PDHB CHCHD10 MT-ND6 EARS2 NDUFAF6 HADHA NDUFS7 SLC3A1 COA6 TK2 TIMM22 IBA57 TXN2 NDUFS1 CTNS NDUFS2 SDHB VCP MFF MT-TS2 MRM2 TARDBP SDHD POLG2 NDUFA2 ETFA MT-ATP6 CARS2 SCO1 MT-TE ISCU ECHS1 MT-TH MTFMT DLD TRMU HMGCL SLC34A1 TMEM70 KARS1 PDHX CYBB NDUFAF3 MT-CO3 NFU1 SUCLG1 MT-CO1 NADK2 PEX5 POLG ACADVL COX16 PDP1 NDUFA8 TBK1 NDUFC2 MIEF2 MYH7 TACO1 AK2 AFG3L2 LIPT1 SLC22A5 SLC19A3 FOXRED1 TAFAZZIN SLC25A26 MMP1 ACADM NDUFA6 ACAD9 NDUFB10 NDUFAF8 PDHA1 SLC25A10 GATM NDUFV1 MT-ND1 RRM2B NDUFB9 MT-TW NDUFS8 TYMP SLC25A4 BOLA3 NDUFAF1 CYP27A1 MT-ND4 MT-TL2 QRSL1 HSD17B10 ACAD8 PET117 MT-CYB MT-TL1 COX5A MYH14 DNA2 NDUFAF4 COX6A2 FBXL4 COX20 NDUFAF2 CPT2 MT-ND2 TRMT5 PET100 NDUFV2 MRPS23 GFER COA8 CYBA MT-CO2 CAMKMT NDUFA9 NDUFA12 SQSTM1 NDUFB11 DLAT NDUFS3 TTN COX15 NDUFA11 PREPL NDUFA10 GLRX5 HADH ATP5F1E NDUFAF5 GTPBP3 TSFM MRPS14 MT-ND5 FXN NDUFA13 SDHA NEB DGUOK SLC39A8 MGME1 ETFDH COA3 FDXR NDUFA4 TIMM50 MT-ND3 TIMMDC1 NDUFS6 PPM1B EHHADH LRPPRC NDUFA1 C9orf72 ETFB PNPT1 MRPS25 DNAJC30 GATC NFS1 MT-TF GNE DNMT1 NUBPL TWNK MT-TQ GYG1 COL7A1 MRPL12 COX4I1 GFM1 SLC25A20 NDUFB3 MT-ND4L SPG7 TMEM126B SUCLA2 HP_PARIETAL_CORTICAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARIETAL_CORTICAL_ATROPHY NDN SNRPN SACS MAGEL2 OCA2 SCYL2 STUB1 HP_OCCIPITAL_CORTICAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCCIPITAL_CORTICAL_ATROPHY NDN SNRPN MAGEL2 OCA2 DOCK7 HP_INCREASED_FIBULAR_DIAMETER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_FIBULAR_DIAMETER LMBR1 SHH SLC35D1 INPPL1 GPC6 HP_OPEN_ANGLE_GLAUCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPEN_ANGLE_GLAUCOMA WDR36 ASB10 FGFR3 OPTN CYP1B1 POLG2 MYOC LMX1B NTF4 FGFR2 FGF10 HP_HYPOPLASIA_OF_THE_PONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_PONS LARGE1 EXOSC1 MDH1 POMT1 RERE GAS1 TUBB2B SLC25A46 FOXH1 ADGRG1 GPHN TGIF1 ROBO3 VPS51 TDGF1 DOCK7 NODAL POMK ZIC1 TOE1 BRF1 PIGS PCLO DCC POMGNT1 CASK TSEN54 ASNS MAB21L1 AHCY RELN STUB1 RTTN ZIC2 GLI2 SMARCA2 FKRP B3GALNT2 TRAPPC12 APC2 PPIL1 WNT1 ARHGEF2 PTCH1 PMM2 ATXN2 SHH PTEN MINPP1 SIX3 GMPPB CDON PPP2R1A SNX14 POMT2 ALG3 FGF8 DLL1 UBE2A ATXN8OS VRK1 DISP1 POGZ EPG5 SLC5A6 HP_ABNORMALITY_OF_CIRCULATING_GLUCOCORTICOID_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CIRCULATING_GLUCOCORTICOID_LEVEL QRSL1 PDGFB TBX19 CYP11A1 TERT HSD11B2 ARMC5 PDE8B BAP1 GATB NFKB2 CDKN2B NR0B1 CDKN1B CYB5A TP53 SMARCB1 MC2R PDE11A TXNRD2 NR3C1 STAR GNAS CYP11B1 GATC ABCD1 AKT1 CYP11B2 TRAF7 CYP17A1 GLI3 CDKN2C MRAP PRKAR1A POR MEN1 AAAS CDKN1A PIK3CA NF2 RET PCSK1 SMARCE1 SUFU PRKACA HSD3B2 AIRE HTR1A NNT SMO HP_HEPATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEPATITIS XIAP ATP7A SLC25A15 VPS33B IL12A HBB VIPAS39 PIK3CA ATP7B SH2D1A RASGRP1 TNPO3 IGLL1 CD247 PIEZO1 APC CD79B CASP10 FOXP3 TRAF3IP2 C4B IL17RC FAS TTC7A ITCH RFXANK CASP8 TP53 MET RFXAP IL12RB1 TPP2 SHPK SKIV2L HSD3B7 GPR35 COG8 TBX19 PGM1 RFX5 BTK SYK IL21R STAT1 CIITA IGF2R CLEC7A CYP7A1 PDGFRL BLNK COG6 ACP5 TCF4 ALMS1 C1S MMEL1 AXIN1 CYP7B1 IGHM MST1 TNFSF15 LRRC8A GNAS IRF5 GLIS3 PRKCD CD3E IL17RA SEMA4D TCF3 GUSB AIRE POU2AF1 FASLG CTNNB1 PIK3R1 IL17F CD79A SERPINA1 CD3D IL18BP AMACR SPIB CD40LG HP_ABNORMAL_CIRCULATING_ALBUMIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_ALBUMIN_CONCENTRATION WT1 PLCE1 NUP133 SAR1B IL12A ARHGDIA WDR73 MYO1E NUP107 EIF2AK3 IFNGR1 NUP37 ITGA3 TTC37 TNPO3 ALB ACTN4 NPHS1 COQ2 NUP93 UNC13D SLC25A13 PRF1 APOL1 FOXP3 SMAD4 NUP160 KRT5 CCBE1 NPHS2 DAAM2 CD2AP CRB2 SETX ALG1 STXBP2 SGPL1 ANLN IL12RB1 COQ8B BMPR1A FN1 GPR35 DGAT1 SLCO2A1 COL4A3 NUP85 TRPC6 CD55 SYK DGUOK TDP1 ALG6 PAX2 PDSS2 PTPRO PMM2 FARSB NUP205 TET2 KRT14 MICOS13 TCF4 STX11 FARSA MMEL1 MPI NLRC4 MAGI2 VPS33A TFAM GAPVD1 WDR4 B2M MST1 TBC1D8B TNFSF15 IRF5 ALG8 AHCY ALG12 PIK3R5 OSGEP APTX MTTP SEMA4D POU2AF1 COL7A1 ARHGAP24 PET100 ANKFY1 INF2 TKFC EMP2 SPIB PTEN PLVAP HP_METHEMOGLOBINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METHEMOGLOBINEMIA HBA1 HBB CYB5R3 CYB5A HBG2 HP_METHYLMALONIC_ACIDURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METHYLMALONIC_ACIDURIA SUCLA2 LMBRD1 SUCLG1 ABCD4 PRDX1 MCEE ACSF3 MMACHC MMUT MMAA TCN2 CD320 HCFC1 MMAB MMADHC MLYCD HP_ANTERIOR_UVEITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTERIOR_UVEITIS HLA-DRB1 PTPN2 PTPN22 IL6 TNFAIP3 AIRE IL2RB HLA-B IL2RA ANKRD55 MIF STUB1 NOD2 LACC1 CD247 STAT4 HP_POSTERIOR_UVEITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_UVEITIS BCL10 MALT1 NOD2 BIRC3 FOXP1 HP_STOMACH_CANCER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STOMACH_CANCER APC BMPR1A BUB3 PRKAR1A BUB1B BUB1 TP53 STK11 BLM CHEK2 CASP10 TRIP13 SEMA4A IL1RN KRAS CDH1 KLF6 CDKN2A CEP57 RPS20 MSH3 IRF1 AAGAB MDM2 ERBB2 MUTYH IL1B COL14A1 PIK3CA FGFR2 HP_ABNORMAL_NUMBER_OF_ERYTHROID_PRECURSORS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NUMBER_OF_ERYTHROID_PRECURSORS RPS28 CDAN1 RPL11 RPS15A RPL27 CDIN1 GLRX5 UROS ADA2 RPL35 RPL18 RPS14 RPS20 PNP RPL5 HBB GATA1 RPL31 EPO RPL35A RPS29 LPIN2 RPS10 RPS17 RPS26 RPL26 CBLIF RPL15 SF3B1 TET2 UROD TSR2 RPS19 PUS1 TP53 KLF1 RPS7 RPS27 G6PC3 RPS24 ERBB3 PIGA HP_ERYTHROID_HYPERPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERYTHROID_HYPERPLASIA HBB CDAN1 LPIN2 GATA1 CDIN1 GLRX5 UROS CBLIF SF3B1 ERBB3 UROD PIGA PUS1 KLF1 TET2 HP_ERYTHROID_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERYTHROID_HYPOPLASIA RPS29 RPS28 RPL11 RPS10 GATA1 RPS17 RPS26 RPS15A RPL27 ADA2 RPL26 RPL35 RPL18 RPL15 TET2 TSR2 RPS19 RPS14 RPS20 RPL5 RPS7 RPL31 RPS27 RPL35A G6PC3 RPS24 HP_ABNORMAL_GRANULOCYTOPOIETIC_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GRANULOCYTOPOIETIC_CELL_MORPHOLOGY NUMA1 CXCR4 TET2 GATA1 SRSF2 RARA RPL18 ASXL1 SF3B1 CXCR2 KIT HP_ABNORMAL_NUMBER_OF_GRANULOCYTE_PRECURSORS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NUMBER_OF_GRANULOCYTE_PRECURSORS RPL18 ASXL1 SF3B1 SRSF2 TET2 KIT HP_ABNORMAL_MEGAKARYOCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MEGAKARYOCYTE_MORPHOLOGY TP53 MYSM1 ANKRD26 GP1BB SF3B1 JAK2 RPS14 SLC35A1 SAMD9 TET2 CALR GNA14 MPL SH2B3 HOXA11 GP1BA RFWD3 UBA1 GP9 GATA1 HP_ABNORMAL_MONOCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MONOCYTE_MORPHOLOGY PIK3CD NRAS ELANE SRP54 GFI1 DDX41 TCIRG1 GATA2 G6PC3 RAC2 KRAS WAS HP_ABNORMALITY_OF_VON_WILLEBRAND_FACTOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VON_WILLEBRAND_FACTOR NBEAL2 VWF IKZF5 ITGA2B F8 GP1BA GP1BB SLC37A4 ITGB3 GP9 HP_HEMOTHORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMOTHORAX EXT1 SERPINF2 COL3A1 ENG EIF2AK4 EXT2 HP_HYPOTRIGLYCERIDEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOTRIGLYCERIDEMIA APOC3 SAR1B NGLY1 CETP ANGPTL3 PCYT1A GALNT2 MTTP HP_DECREASED_CORNEAL_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CORNEAL_SENSATION FGFR3 FGFR2 TGFBI CHST6 FGF10 HP_HEMOPHAGOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMOPHAGOCYTOSIS CD27 PRF1 XIAP UNC13D SLC7A7 HAVCR2 RAB27A STXBP2 STX11 LYST SH2D1A HP_SUBCORTICAL_CEREBRAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBCORTICAL_CEREBRAL_ATROPHY USH2A ACTB MAN2B1 GCDH CIB2 KRAS SHPK HNF1B MYO5A MYO7A ACTG1 USH1C ADGRV1 EHMT1 ESPN PDZD7 LHX1 ALG3 CDH23 TCTN3 USH1G PCDH15 MBTPS2 POGZ WHRN FGFR1 PANK2 HP_ASTERIXIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASTERIXIS SLC25A13 ATP8B1 NR1H4 ABCB11 ABCB4 HP_OLIGODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIGODACTYLY SF3B4 GLI3 HDAC8 TP63 SMOC1 DONSON DLL4 APC HOXD13 SEMA3E EPS15L1 ESCO2 DLX5 PORCN CYP26B1 BRD4 RIPK4 DLX6 SMC3 BTRC MBTPS2 NIPBL WNT7A SMC1A LRP4 SEM1 WNT10B RAD21 CHD7 RECQL4 BHLHA9 HP_SKIN_PICKING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_PICKING NDN HTR2A SNRPN SIM1 MAGEL2 OCA2 USP7 KMT2E SLC6A4 HP_HEAD_BANGING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEAD_BANGING KAT5 MAPK1 SVBP VPS13A DPAGT1 SNRPN PIGF RAI1 HP_STEREOTYPICAL_HAND_WRINGING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STEREOTYPICAL_HAND_WRINGING CDKL5 GRIN2A GABBR2 VAMP2 LMNB1 MGAT2 KCNB1 DYRK1A STXBP1 FOXG1 LARP7 SATB1 GRIA2 IQSEC2 NACC1 NTNG1 NEXMIF MECP2 SMC1A HP_STEREOTYPICAL_BODY_ROCKING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STEREOTYPICAL_BODY_ROCKING KIF15 NEXMIF DPAGT1 WDR26 AFF2 HP_GLIOBLASTOMA_MULTIFORME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLIOBLASTOMA_MULTIFORME MSH2 APC PIK3CA TGFBR2 BMPR1A MLH1 PMS2 TP53 BRCA2 CHEK2 SEMA4A PMS1 MLH3 CDKN2A KRAS RPS20 EPCAM MDM2 FAN1 IDH1 MSH6 ERBB2 HP_ABNORMAL_NATURAL_KILLER_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NATURAL_KILLER_CELL_MORPHOLOGY JAK3 RIPK1 MCM10 CD70 RAG2 AP3B1 SYK LYST KNSTRN GATA2 PIK3CD MCM4 IL2RG SP110 NLRC4 FCGR3A PGM3 DNMT3B RAG1 HP_ABNORMAL_NATURAL_KILLER_CELL_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NATURAL_KILLER_CELL_PHYSIOLOGY PIK3CD PRF1 UNC13D LCP2 AP3B1 STXBP2 WIPF1 STX11 XIAP PRKCD SH2D1A NLRC4 FCGR3A IL2RG IKBKG HP_ENTRAPMENT_NEUROPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENTRAPMENT_NEUROPATHY B2M IDS GNAS GNPTAB IDUA SH3TC2 ARSB TTR GSN COMP HP_HODGKIN_LYMPHOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HODGKIN_LYMPHOMA PRKCD RNF43 PGM3 TCF4 DKC1 POLE TP53 SOCS1 CHEK2 RASGRP1 MAGT1 FASLG CD27 ITK CDKN2A KLHDC8B CD70 FAS AAGAB MDM2 CASP10 STAT3 COL14A1 ATM HP_T_CELL_LYMPHOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_T_CELL_LYMPHOMA PRKCD CD28 NBN TNFRSF1B FAS POLE CASP10 CTLA4 RASGRP1 FASLG MLH1 MSH6 HP_B_CELL_LYMPHOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_B_CELL_LYMPHOMA ITK PRKCD NBN PIK3R1 MALT1 FCHO1 FAS SYK RASGRP1 CASP10 CCND1 ATM ADA BCL10 IKZF3 MAGT1 FASLG BIRC3 FOXP1 HP_INSULINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INSULINOMA MEN1 CDKN1A CDKN1B CDKN2C CDKN2B HP_ABNORMALITY_OF_PROTHROMBIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PROTHROMBIN F5 EFL1 HMGCL NGLY1 HLA-DQB1 PMM2 F2 HLA-DQA1 MICOS13 SOS2 SLC30A10 TCF4 ACAD9 MTTP SEMA4D HELLPAR AGA F7 GGCX LMAN1 GPR35 MCFD2 HADH PET100 COG8 CFI RINT1 SLC25A13 MST1 PRF1 NBAS NR1H4 AHCY F10 GFI1B ALG12 GNE VKORC1 CFH CD46 HP_ONYCHOMYCOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ONYCHOMYCOSIS KRT1 CARMIL2 TRAF3IP2 IL12A CDH23 TNFSF15 SDR9C7 CARD9 IL12RB1 IL17RC CYBC1 SPIB IRF5 POU2AF1 DOCK8 NFKB2 MMEL1 PLCG2 USP8 CLEC7A TNPO3 HP_ABNORMAL_SPERM_MOTILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SPERM_MOTILITY SPEF2 CATSPER2 PMFBP1 ARMC2 DNAH8 CFAP58 SUN5 STRC DNAI2 CCDC39 SPAG17 CFAP221 CFAP69 DNAH1 PKD2 BICC1 ODAD2 RSPH4A DNAAF6 DNAAF2 CFAP70 KLHL10 PKD1 DNAH2 ODAD3 DNAH9 RSPH9 GAS2L2 HNF1B CFAP298 MCIDAS DNAH11 DNAAF3 CFAP65 CATIP DNAH17 CCDC40 CCDC103 ALG9 DNAAF4 CFAP47 TTC12 DNAAF11 DNAAF1 GAS8 CATSPER1 DNAJB13 CFAP300 RSPH1 DNAAF5 CCNO STK36 DRC1 CCDC65 FOXJ1 GBA2 OFD1 SPAG1 ZMYND10 DNAJB11 DNAI1 DZIP1 NME8 CFAP410 CFAP91 NEK10 ODAD1 GANAB DNAH5 ODAD4 RPGR RSPH3 LRRC56 HYDIN CEP112 DNAL1 TTC29 DNAH10 BRDT HP_REDUCED_SPERM_MOTILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_SPERM_MOTILITY DNAAF11 CATSPER2 PMFBP1 ARMC2 DNAH8 CATSPER1 RSPH4A CFAP58 SUN5 STRC SPAG17 CFAP69 PKD2 BICC1 SPEF2 CCDC39 STK36 GBA2 KLHL10 PKD1 DNAH2 ZMYND10 DNAJB11 HNF1B CFAP410 CFAP298 CFAP91 GANAB CATIP DNAH17 CEP112 ALG9 TTC29 DNAH10 CFAP47 BRDT HP_IMMOTILE_SPERM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMMOTILE_SPERM CFAP65 CCDC40 CATSPER2 DNAJB13 CCDC39 GAS2L2 CATSPER1 STRC RSPH9 CFAP70 DZIP1 DNAAF5 HP_JUVENILE_MYELOMONOCYTIC_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JUVENILE_MYELOMONOCYTIC_LEUKEMIA NRAS ARHGAP26 CBL PTPN11 NF1 MAP2K1 BRAF KRAS HP_ABNORMAL_RENAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_MORPHOLOGY WNT4 SDHD DYNC2LI1 MKKS NF1 NRAS PIGA COLEC10 ENG BUB1B CEP290 SLC7A9 NUP107 SEMA3A ADCY10 KMT2D CLCN5 BBS1 TRIP11 MT-ND6 FANCB BMPER TREX1 MUC1 PEX13 AGXT CDKN2B WDR19 RAB23 KANSL1 TAF13 LAMB3 DCDC2 MT-TK KCNJ11 ITGA6 ANOS1 TCTN3 MBTPS2 PAX7 GLI2 ERCC8 STRADA TNXB PHC1 CENPJ KAT5 METTL5 BRAF PYCR2 GATA1 GALNT3 CENPF FAS SPEN MT-TS2 PEX3 PUS3 B9D1 ZEB2 RBM8A CHRNA3 MT-ND1 SEC63 PEX12 EMP2 HGD SC5D FGF8 CFI MT-ND4 EYA1 DNAJB11 INS KCNA1 NXN SLC2A9 JAM3 BCS1L RPS27 ACVRL1 DYNC2H1 ERCC4 MAP2K2 CRTAP LIPT2 CHST14 PTPRO MT-ND2 AKT1 SDHC LRIG2 GRIP1 PIGN FIG4 BBS9 APRT ZIC2 KCNJ2 DIS3L2 MKS1 CDON PRKCZ CDKL5 NPHP1 MAGI2 CEP41 DYNC2I2 SUCLG1 PDX1 FAT4 LMX1B TRAPPC14 TMEM67 PEX5 SALL4 ATP6V0A4 KIAA0753 SCAPER RET VAC14 ZNF699 HNRNPU RFWD3 ROR2 GPC3 RARB PLD1 MME CFAP418 FKRP LAMC2 PQBP1 GLIS3 DYNC2I1 SIK1 PIK3CA TRPC6 RPS29 CACNA1D ITGB4 PAX2 MAX RPS10 LMOD1 OSGEP NCF1 KIF14 ATP7A CRB2 INSR ATRX MT-TE INF2 HPSE2 HNRNPK PIK3C2A DPH1 ITGA8 PEX19 ERAP1 PROK2 MT-TW AMMECR1 ANLN SETBP1 COL4A3 PRPS1 CLCNKA CD96 PKD2 FLNA RPGRIP1L BCL7B GREB1L ACTG2 RPS24 MYLK CHN1 SLC5A1 MDH2 DMXL2 BICRA ARID2 RERE BUB1 COMT PREPL SOCS1 MT-ND5 IL23R DCHS1 BRCA2 COG1 NPHS1 POR OCRL PLG FAH WDR35 PGAP2 CDKN1B SRCAP GP1BA ANTXR1 SHOC2 ELN ARID1B NADSYN1 IARS1 GLI1 EIF4H ALDH18A1 RAB18 NUP133 CEL NPHS2 HPRT1 PCK1 FLRT3 WFS1 B9D2 NEK1 JAG1 TOR1A AFF4 CASR SLC34A3 FUZ PPP2R1A LDLRAP1 SIX5 SCARB2 MEFV KIF1B BRD4 APOE BUD23 NLRP3 FN1 VANGL1 RAI1 OSTM1 DHX16 HIRA LPIN2 DLK1 CDK5RAP2 DACT1 CLDN3 ATN1 RPS26 PMM2 TBX1 CC2D2A SIX1 NPHP3 LMNA IQCB1 NUP205 TMEM216 IL10 NUP93 HSPG2 TBC1D8B SLC30A9 HNF1B DHCR24 DZIP1L SDCCAG8 GCM2 KAT6B CDC73 MAP2K1 FAN1 FKTN NAA10 WT1 UMOD VDR HNF1A ETFB PLCE1 FANCE CPT2 STAG1 MT-TF EXTL3 RPL26 ADAT3 ACE FH CCND2 CDKN2C FGF10 PHGDH PEX10 CDKN1A FGF13 PDE6D G6PC1 CDH23 BRCA1 TMEM270 TRIM32 NFIA CEP19 G6PC3 PDPN KYNU CHRM3 RAD51C UBR1 CEP120 RPS28 ZMIZ1 GPC4 C3 BUB3 GP1BB STRA6 HS6ST1 UBAC2 KCNJ1 MEOX1 PIGL RPL18 DEAF1 SLC37A4 PEX1 STX3 ESCO2 KMT2A CLDN19 RAB3GAP2 IFT80 BBS12 VHL SBDS PEX26 SERPINH1 OPLAH GLIS2 PIGQ APOL1 PRKCSH KCNQ1OT1 RTTN C4A FANCA NOTCH2 ZIC3 GLI3 IFT43 ACTB TELO2 SLX4 TBCK TPRKB GNB1 TMEM127 BMP4 HNF4A CFHR5 FOXC2 FGFR3 BBS5 NUP85 BBS7 TGIF1 MASP1 SMO METTL27 MAPK1 SOX10 TLR4 MAGED2 MAP3K7 GLA MEN1 TSC1 PAX1 ADGRG2 INPP5E PPP1R15B SLC34A2 CEP152 CWC27 SON SASS6 AHI1 MT-CO1 PTEN ASPM ABCC6 ABCC8 SPECC1L PPP3CA IFNG TFAP2A CDC42 EN1 FGFR2 LUZP1 B2M SPRY2 MMP1 C1QB FLNB RFC2 WNT5A NOD2 ELP1 PIGW AIRE KCNJ5 SLC7A7 IGF2 DNASE1 SLC4A1 UBE2T ZNF687 TTC37 B3GLCT EBP USP8 SLC3A1 ALG9 IFT172 RAD51 GBE1 FBN1 HRAS CPLANE1 SNRPB MYO5B LRP5 SLC6A20 IFT140 DDX6 PGM3 SLC25A22 ARID1A COG7 TMEM237 PLEC FGFR1 PIK3R2 TMEM107 ZPR1 CFHR2 VPS33B ENPP1 MYO1E PRTN3 SLC2A2 CLCNKB MT-TL1 NODAL SI ITGA3 RASGRP1 CLIP2 SMARCAL1 THOC6 EVC HOGA1 WAS SCN2A CSPP1 COQ2 KCNE5 ABHD11 PKD1 BSND DSTYK MMACHC PIGT NSD1 KDM6A CASP10 MFSD2A NEUROD2 SMARCE1 KRT17 WAC DCC FANCI MT-CO2 CAMKMT CCBE1 TBX18 CEP135 MAPKBP1 STX1A TTC21B CREBBP WDPCP BTNL2 FREM1 HLA-B MOCS2 DLL4 FANCD2 TMEM260 RPS19 SCO2 SLC34A1 SMARCA4 FANCL RIPK4 KAT6A ANKRD17 RBBP8 FGF23 OFD1 IQSEC2 HYLS1 GNA11 KRAS COQ6 MGME1 SOX17 PIGY SKIV2L RPL11 KLF11 NDNF MT-CO3 ALMS1 BICC1 APPL1 ARX IL12A PACS1 WIPF1 KNL1 VPS33A UFD1 RNU4ATAC DDX59 WDR11 COL4A1 LDLR GDF3 XPNPEP3 SMC3 POMT1 SHH PTCH1 INSL3 PTH1R AP2S1 TAPT1 SMC1A GTF2IRD2 SMAD4 SDHA NEK8 TTC8 DYRK1A GRHPR POU3F4 LZTFL1 ARMC5 CIT PIEZO2 COL7A1 VPS37D BRF1 PCK2 FASLG NDUFB8 ARHGAP24 TMEM138 SURF1 NDUFAF3 ALG8 PPP2R3C KCTD1 RMND1 LARGE1 GLMN SF3B4 DAAM2 ALPL TCTN2 LMNB1 HMGA2 PEX6 RTL1 GTF2I HDAC8 ADA2 HLA-DPA1 SLC12A1 ATP7B ARL6 INTS1 PDHA1 RAB3GAP1 MYCN HOXD13 KIRREL1 ANKLE2 DDB1 MMP23B RSPO2 PKHD1 RAF1 CCR1 MCTP2 CLPB GEMIN4 NPHP4 MED25 SH2B1 SOX9 FAM20C CTNS TXNL4A TCTN1 SGPL1 PRKAR1A TP63 ABCG5 GDF6 SDHB TSC2 FREM2 LEMD3 POLE SOX18 COL4A4 CFTR PIGP TBL2 MCPH1 SHANK3 COPA EP300 PLCD1 LRP4 BBS10 OTUD5 TACR3 CCDC141 ERBB3 MIA3 TBX15 AIP PEX16 SLC35A2 SMS CASK RPS20 TMEM231 MOCOS PORCN SAA1 DVL1 BBS4 FOXF1 FOXH1 CEP83 TRAF3IP1 STAT4 YY1AP1 FCGR2A HLA-DRB1 GATA3 AGTR1 KIAA0586 SLC26A1 SMARCC2 PUF60 DNAJC30 TP53RK DNMT3A PROKR2 SALL1 SLC36A2 CEP55 SLC9A3R1 HESX1 REN NARS2 NRIP1 CHD7 BBIP1 MCM5 ADA PRKCD PTPN11 TXNDC15 TASP1 MRPL3 WDR62 ARHGDIA ARNT2 RAD21 RECQL4 CCNQ USP9X SEC24C RPL27 TRIM8 ARL3 INTU LMNB2 JMJD1C MYL9 ACTN4 B4GAT1 SLC29A3 WBP11 DNA2 AKT3 SEC61A1 NIPBL NSDHL PNKP MYH11 CD2AP SOS1 FOXP3 PBX1 NSUN2 CDKN1C COQ8B SHPK SLC22A12 STK11 ZAP70 RPL15 DHCR7 SETD2 UBE4B CCDC22 BNC2 CEP63 PIK3CD DNAJC21 CLDN2 ADAMTSL1 COQ7 MYOD1 ETFDH MTRR TBC1D24 ARL6IP6 KIF7 HSD11B2 MYMK INVS APC KCNQ1 TBX3 EVC2 NBN GPKOW XRCC4 SLC6A19 RPL31 PEX2 RBM10 WNT3 GP9 EPAS1 FANCF MEG3 PEX14 MT-TQ ARVCF CAPN15 TDGF1 CTLA4 SARS2 GCK SRY KNSTRN FEZF1 SLC25A11 MYOCD NCAPD3 ANKFY1 DLL1 SDHAF2 RREB1 WASHC5 BBS2 RPS17 HAAO SPRY4 STXBP1 SOX11 SUFU CILK1 HS2ST1 FIBP CTH TENT5A RORA AVIL RPS15A WDR73 CFHR3 MT-TS1 CFH MAFB BCOR NOS1AP VIPAS39 GTF2IRD1 NUP37 ATP6V1B1 ZNF423 SPINK5 COX14 SLC6A17 SIX3 FLII RPL35 CA2 APOB KLRC4 FBXW11 PIGV RPL35A NUP160 IFT27 LAMB2 PCSK9 MT-ND3 FANCC SCN1B TRNT1 TBC1D20 DNASE1L3 TSR2 ACTG1 UBE2A APC2 C1QC DPF2 ETFA ACSL4 GANAB SEMA3E MDM2 MT-TH IFT74 ATP6V1B2 SSR4 PDSS2 AGT CDK6 SMARCB1 ZNF148 DUSP6 GNAO1 XRCC2 HDAC4 GRIA3 BLK C1QA FGF17 FGF20 CTNNB1 GAPVD1 RPL5 MRPS22 AMER1 PAX4 DLST TOGARAM1 ADAMTS3 ANKS6 IL12A-AS1 CLDN10 DSE SPOP LMBRD1 YY1 TKT IFT122 AFF3 COG6 LONP1 HLA-DPB1 FAM149B1 MOCS1 PAH LAMA3 GDF2 SMARCD1 FLCN PRMT7 CHUK SLC12A3 GNAS POGZ GAS1 PLVAP PGAP3 MAD2L2 STIL FCGR2B SOX4 KDELR2 SRP54 SMOC1 PEX11B COLEC11 COPB2 CLDN16 EHMT1 MT-ATP6 IL17RD ROBO2 FAM20A KCNH1 RPGRIP1 CYP24A1 TBX22 FUT8 NDUFAF6 NCAPG2 LAT2 HSPA9 KCNAB2 NEUROD1 JAK1 STS MLXIPL RPS7 MSH3 POMT2 CD81 SLC1A1 STAT1 BSCL2 LIMK1 SKI FRAS1 TRRAP MTX2 BAZ1B HSD17B4 CEP164 POLR3A ERCC6 PIGO DGKE PPM1B LIG4 XDH PNPLA2 COL4A5 CEP57 SPART CASZ1 PTPN22 PRDM16 NDUFS2 LHX1 CCND1 MNX1 ACP5 LTBP4 FLI1 DKC1 FKBP6 AGPAT2 CLDN4 TRIP13 FANCG MT-TV MT-CYB CTU2 ABCG8 MMUT DISP1 BRIP1 GABRD LAGE3 FANCM PALB2 HP_ABNORMAL_RENAL_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_PHYSIOLOGY SDHD DYNC2LI1 CEP290 LEMD3 ENG PRODH SLC7A9 NUP107 CLCN5 BBS1 PTPN22 MT-ND6 TREX1 MUC1 AGXT WDR19 DCDC2 MT-TK KCNJ11 ITGA6 CYP11B2 NTRK1 ERCC8 AVPR2 SERPINF2 AQP2 HPS1 GALNT3 FAS MT-TS2 PUS3 ABCC6 NEXMIF LMAN1 CHRNA3 PC TGM1 EMP2 CFI SLITRK6 DNAJB11 BCOR INS SLC2A9 KANK2 ACVRL1 ERCC4 CHST14 SLC34A1 PTPRO SDHC LRIG2 PHKG2 FIG4 BBS9 APRT KCNJ2 NPHP1 NDUFAF3 MAGI2 PDX1 LMX1B TMEM67 ATP6V0A4 SCAPER CPOX VAC14 ZNF699 MME WAS PHEX DYNC2I1 TRPC6 ITGB4 PAX2 MAX SLC7A7 OSGEP NCF1 CYB561 CRB2 THBD MT-TE INF2 HPSE2 PPOX MT-ND1 ERAP1 MT-TW AMMECR1 ANLN WT1 COL4A3 PRPS1 POU6F2 CLCNKA PKD2 NDUFS8 BCL7B PML PIGA SLC5A1 MDH2 HNF4A SNAP29 SOCS1 CPT2 IL23R FLT1 BRCA2 COG1 NPHS1 OCRL FBXL4 PLG FAH LDHA GP1BA ELN GCK IL17RC EIF4H NUP133 LPIN1 HRAS CEL NPHS2 TRIP13 JAG1 ITGB3 SLC34A3 FUZ SIX5 CA2 SCARB2 MEFV KIF1B BRD4 BUD23 FN1 VANGL1 CISD2 LPIN2 DACT1 CLDN3 PMM2 CC2D2A NPHP3 IQCB1 NUP205 FANCB IL10 XYLT2 GATM NUP93 TBC1D8B SLC30A9 HNF1B CCN2 DZIP1L EHMT1 SDCCAG8 CCND1 GCM2 HBB CDC73 FAN1 SOX9 NDUFS4 HPRT1 GP1BB UMOD HNF1A ETFB PLCE1 SLC4A4 CFAP418 MT-TF PDSS2 PRKAR1A NDUFS3 XYLT1 ACE FH MAP3K1 ATP1A1 ABCC8 CAV1 G6PC1 BRCA1 TMEM270 IL6 TRIM32 SLC5A2 CEP19 KYNU NF1 RAD51C CFHR1 ITGA2B CEP120 GATA4 C3 NLRP3 MYD88 UBAC2 KCNJ1 STAT2 DSTYK SLC37A4 STX3 COA8 CLDN19 RYR1 IFT80 BBS12 ALOXE3 OCLN GLIS2 APOL1 APOE C4A ADA2 NOTCH2 YAP1 PGK1 STAT4 NDUFS1 GLA IFT43 TMEM216 SLX4 MT-TT TPRKB TMEM127 MCFD2 GBA CFHR5 RARA BBS5 NUP85 RET BBS7 EFEMP2 METTL27 MAFB VAMP7 TLR4 MAGED2 DNASE1L3 WDR73 MEN1 TSC1 INPP5E RAG1 ACP5 SLC34A2 AHI1 MT-CO1 NADK2 GSN RAG2 B2M SPRY2 MMP1 C1QB ZNF592 RFC2 ELP1 LAGE3 KCNJ5 DNASE1 IKZF1 SLC4A1 UBE2T NDUFV1 IL17F IFT172 RAD51 NUMA1 NDUFAF1 MYO5B FGA IFT140 PGM3 ALDOB CFHR2 VPS33B MYO1E PRTN3 SLC2A2 CLCNKB MT-TL1 TCN2 HLA-B SCNN1A ITGA3 RASGRP1 CLIP2 SMARCAL1 FANCE COQ2 KCNE5 ABHD11 PKD1 BSND MMACHC NSD1 CASP10 CAD ALOX12B FANCI MT-CO2 MT-TN TBX18 MAPKBP1 RRM2B PHYH F8 STX1A TTC21B CORIN HMGA2 WDPCP BTNL2 PAFAH1B1 F2 PEX7 UQCC2 TMEM260 SCO2 FANCL CCR6 STAT3 ERCC6 SPP1 EYA1 COQ6 RPGRIP1L KLF11 NDUFAF8 FXYD2 MT-CO3 CTNS HLA-DRB1 ALMS1 BICC1 APPL1 MT-ND3 IL12A WIPF1 DYNC2H1 VPS33A NDUFS6 COL4A1 XPNPEP3 SMC3 REST CSPP1 AP2S1 SMC1A GTF2IRD2 PEX19 ALDOA SMAD4 SDHA NEK8 TTC8 GRHPR LZTFL1 ADA VHL TMEM231 CHD4 COL7A1 VPS37D FASLG NDUFB8 ARHGAP24 SURF1 SERPINA1 MMUT RMRP KCTD1 KCNJ10 SLC25A20 FANCD2 RMND1 ABCA12 DAAM2 MDM2 HOXA13 GTF2I HDAC8 CFH HLA-DPA1 SLC12A1 ATP7B ARL6 FOXI1 MYCN NDUFAF6 HOGA1 CD151 KIRREL1 PKHD1 CCR1 ZAP70 NR5A1 CLPB NPHP4 FIP1L1 HMBS SPTBN1 DCLRE1C ALG1 P4HA2 SGPL1 TRIM28 DMP1 SDHB TMEM237 SOX18 COL4A4 TBL2 SHANK3 CPT1A DMRT3 RFWD3 COPA ZNF423 CLEC7A BBS10 WDR4 IL7R SLC26A4 SLC35A2 MOCOS SAA1 TSC2 PAX6 CEP83 TRAF3IP1 CACNA1S WWOX FOXRED1 YY1AP1 FCGR2A GATA3 IFIH1 AGTR1 KIAA0586 CASR SLC26A1 COL4A5 COL3A1 DNAJC30 TP53RK DNMT3A SALL1 SRCAP NDUFB9 LCAT BCS1L REN BBIP1 ITGA2 PRKCD HIC1 ARHGDIA RAD21 ENPP1 CCNQ SLC3A1 SIX1 DHDDS TMEM138 EIF2AK3 LMNB2 F5 SREBF1 NDUFAF4 ACTN4 PHKA2 NDUFAF2 NDUFV2 TRAF3IP2 SCNN1B SEC61A1 ZFPM2 IRF5 PRF1 MYH11 CD2AP FOXP3 PBX1 ZBTB16 COQ8B FANCA SHPK SLC22A12 FBLN5 IRAK1 NOD2 SETD2 SULT2B1 MT-ND2 PYGM NDUFAF5 APOA1 CFHR3 BNC2 ETFDH MTRR NDUFS2 GCDH LRP2 HSD11B2 INVS SCNN1G EHHADH NDUFA1 LIPN STAT5B GP9 NFS1 ALG9 NUBPL EPAS1 FANCF MT-TQ CYP4F22 NR0B1 CTLA4 SARS2 SLC25A11 MYOCD LIG4 ANKFY1 PRDX1 SDHAF2 BBS4 BBS2 F10 HMOX1 AVIL MT-TS1 NOS1AP VIPAS39 GTF2IRD1 NUP37 ATP6V1B1 SDR9C7 MARS1 OFD1 NDUFS7 C1QBP KLRC4 NUP160 IFT27 LAMB2 LYZ MKS1 STXBP2 HELLPAR NABP1 GPR35 APC2 CD109 C1QC ETFA RASA1 ACSL4 GANAB SRY NIPBL MT-TH IFT74 PGAM2 AGT KARS1 XRCC2 TCF4 CYBC1 BLK STX11 C1QA GAPVD1 PKDCC SLC12A3 PAX4 TBL1XR1 YWHAE DLST CHD7 GNAS COL4A6 ALDH4A1 ANKS6 IL12A-AS1 TTR CLDN10 DYNC2I2 IFT122 COG6 CD46 HLA-DPB1 FANCC IL17RA NDUFA6 SEMA4D NDUFB10 GDF2 MKKS IRF2BP2 MT-ND4 PLVAP MAD2L2 FCGR2B UMPS HGD UNC13D SH2B1 SLC17A5 WDR35 CLDN16 NIPAL4 FAM20A CYP24A1 LAT2 NDUFB11 NEUROD1 SON NDUFA11 JAK1 STS STOX1 AGGF1 MLXIPL CHRM3 WFS1 CD81 MT-ND5 STAT1 NPM1 IL2RG LIMK1 BAZ1B CEP164 DGKE TMEM126B XDH ADAMTS13 CDK4 MST1 LHX1 TIMMDC1 H19 FKBP6 MYH9 CLDN4 DIS3L2 DHX37 FANCG PNPLA6 CFB ITPR3 GPC3 NDUFB3 BRIP1 FANCM PALB2 EPG5 HP_ABNORMAL_GLOMERULAR_FILTRATION_RATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GLOMERULAR_FILTRATION_RATE CLCNKB DNAJB11 BSND CYB561 G6PC1 AGXT PUS3 HGD SLC2A9 GANAB PKD2 BICC1 CASR SLC22A12 SLC7A7 SLC37A4 ITGA3 CLCNKA ALG9 MUC1 PKD1 HP_ERYTHEMA_NODOSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERYTHEMA_NODOSUM XIAP BTNL2 LRBA PSMB8 NOD2 ADA2 NLRP12 HLA-DRB1 HP_ARACHNOID_HEMANGIOMATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARACHNOID_HEMANGIOMATOSIS SDHA KIF1B SDHD MAX FH RET SDHC SDHAF2 DLST TMEM127 GNAQ SDHB SLC25A11 NF1 MDH2 VHL HP_URETHRAL_STRICTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_URETHRAL_STRICTURE CDC45 ITGB4 FERMT1 MMP1 LAMB3 FLT4 ITGA6 MKKS PLEC TERT POLA1 COL7A1 LAMC2 LAMA3 PKP1 HP_CSF_PLEOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CSF_PLEOCYTOSIS PRF1 SAMHD1 CACNA1A SCN1A TRAF3 RNASEH2C STXBP2 TBK1 STX11 RNASEH2A IFIH1 UNC93B1 RNASEH2B UNC13D TLR3 NOTCH2NLC TICAM1 ATP1A2 ADAR TREX1 PRRT2 HP_RHEGMATOGENOUS_RETINAL_DETACHMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RHEGMATOGENOUS_RETINAL_DETACHMENT TSPAN12 LCA5 LRAT COL2A1 NDP ZNF408 FZD4 RPE65 CTNNB1 SPATA7 LRP5 HP_EXUDATIVE_RETINAL_DETACHMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXUDATIVE_RETINAL_DETACHMENT IGFBP7 CFH EFEMP1 CFI FRG1 HP_SHORTENED_QT_INTERVAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORTENED_QT_INTERVAL KCNH2 CDC73 CDKN1B CDKN2C KCNJ2 CACNA1C MEN1 CDKN1A KCNQ1 CACNA2D1 CACNB2 CDKN2B HP_INTRAMUSCULAR_HEMATOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRAMUSCULAR_HEMATOMA F7 F8 F2 F13A1 F10 SERPINE1 SERPINF2 F13B HP_INCREASED_INTRAMYOCELLULAR_LIPID_DROPLETS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_INTRAMYOCELLULAR_LIPID_DROPLETS NDUFS4 MT-TN GABRA3 COQ8A SCN4A CACNA1S ABHD5 MT-TS1 MSTO1 AFG3L2 NDUFA4 SDHA ISCU PNPLA2 KCNE3 CHCHD10 SURF1 SUCLG1 COX6A2 KCNJ18 HP_ABNORMAL_SEX_DETERMINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SEX_DETERMINATION WNT4 DHH GATA4 CYP11A1 SRY CBX2 AKR1C4 MAP3K1 NR0B1 RSPO1 DHX37 AKR1C2 ZFPM2 CYB5A SOX9 WT1 NR5A1 VAMP7 DMRT3 CYP17A1 WWOX CILK1 HP_SEX_REVERSAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEX_REVERSAL WNT4 CYP11A1 AKR1C2 ZFPM2 DHH SRY CBX2 MAP3K1 AKR1C4 SOX9 NR0B1 RSPO1 NR5A1 CILK1 HP_OCULOMOTOR_NERVE_PALSY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCULOMOTOR_NERVE_PALSY TRAF7 PLEC PDGFB BAP1 TERT MAFB COL3A1 TGFBR3 MEN1 TRPV4 UGT1A1 AIP MYMK PIK3CA NF2 SMARCE1 SUFU CDH23 ENG SMARCB1 AKT3 ANGPTL6 SALL4 CHN1 THSD1 SMO SH3TC2 AKT1 HP_PROLONGED_PR_INTERVAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_PR_INTERVAL SCN2B SLC12A3 DMPK GPD1L TLL1 KCNA5 GNB5 CLCNKB NKX2-5 HP_ABNORMAL_ST_SEGMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ST_SEGMENT HCN4 GATA4 CLCNKB KCND3 GYG1 TBX20 CACNA1C SCN1B TRPM4 SLMAP CACNA2D1 CITED2 SCN3B GATA6 SEMA3A SCN2B NKX2-5 RANGRF KCNE3 RYR1 PKP2 ACTC1 TLL1 SCNN1A ABCC9 SLC12A3 CACNB2 SCN5A GPD1L POLG SCN10A AKAP9 KCNE5 MYH6 TNNC1 KCNJ8 HP_ST_SEGMENT_DEPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ST_SEGMENT_DEPRESSION TBX20 RYR1 ACTC1 GATA4 TLL1 CLCNKB SLC12A3 CITED2 GATA6 MYH6 TNNC1 NKX2-5 HP_ST_SEGMENT_ELEVATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ST_SEGMENT_ELEVATION HCN4 KCND3 GYG1 CACNA1C SCN1B TRPM4 SLMAP CACNA2D1 SCN3B SEMA3A SCN2B RANGRF KCNE3 PKP2 SCNN1A ABCC9 CACNB2 SCN5A GPD1L POLG SCN10A AKAP9 KCNE5 KCNJ8 HP_ABNORMAL_RESPIRATORY_SYSTEM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RESPIRATORY_SYSTEM_MORPHOLOGY RNU4ATAC TRPS1 CCDC32 KIAA0586 RAG1 SATB1 MGP BUB1B ALX3 PPARGC1A FAT4 TPM3 KMT2D PTPN22 VPS51 FANCB TAPBP KANSL1 LAMB3 TP53 NTRK1 WDFY3 MBTPS2 ARSL MYH6 EGFR ANKH IER3IP1 DNAL1 CACNA1B MYRF CCNO CBL MAP2K1 SIX3 TPP2 ZEB2 FLNB CTSK IL2RG SOS2 TBK1 GABRG2 NIN BACH2 LMOD3 ARHGEF1 GRHL3 CCDC65 BCOR NXN FGF8 KCNMA1 SOS1 ACVRL1 KRAS CHST14 MYLK NGLY1 HACD1 ENG PROKR2 HUWE1 CCDC39 SRP54 PIGN NRAS CCDC103 GLI2 CHEK2 DYNC2I2 PARN STAT6 SUCLG1 RSPRY1 PLP1 MEG3 MED12 ARSB EHMT1 STAT3 AK2 ERCC2 MSH2 DYNC2I1 CFAP300 ERBB2 UBQLN2 DNAAF11 GAS8 NCF1 CREBBP TBX20 ATRX NEK10 TGFB1 KCNN4 GATA6 ITGA8 ERAP1 SETBP1 SOX3 B3GALT6 INF2 ZCCHC8 CFAP410 GNS MDM2 KCNJ2 STN1 PTCH1 NAA10 JARID2 CEACAM6 ARID2 SLC35C1 DONSON RSPH4A ZMIZ1 SLC2A10 DCHS1 ALB NPHS1 POR CD247 PLG WDR35 FUCA1 UBB HLA-DPB1 GBA ELN ARID1B NODAL IL17RC GLI1 EIF4H ABCA12 TREM2 MAGEL2 SNAP29 CFTR HNRNPA1 DNAAF6 MED13L MED27 TBX5 PSMB9 CD27 IDUA MEFV EDN1 RAG2 FOXJ1 RAI1 EIF2AK4 FBN1 HIRA AFF4 DLK1 NHLRC1 MIF CLDN3 MANBA SMN1 AICDA MDM4 TBX1 SPTBN4 IGHM NPHP3 NUP205 PON2 IL10 SHH LYST TIMMDC1 DLL4 TBCD SLC26A2 GLDN DZIP1L KAT6B FERMT1 BTK SMPD1 ZMPSTE24 DISP1 DNAAF3 ERBB4 FOXN1 SATB2 SPIDR NDN PWAR1 ABCA3 PRKAR1A RAPSN NOTCH1 ACE POLR1C STK36 CFI TRIM2 NEK9 CAV1 SOX10 APOE SCN4A FAS CEP57 TMEM270 WT1 GLE1 IRF9 BCL10 TGIF1 RAF1 PNP RFXAP IL2RA RAD51C PTCD3 NUP133 BUB3 CD19 MYD88 RIT1 ODAD2 BAP1 DNMT3B SLC25A24 TAP1 CD3E HLA-DRB1 FADD ICOS IFT80 CD79A CD81 SOX18 ESS2 STAT5B C4A CSF2RB RFXANK IDS MYL2 STAT4 GLI3 CXCR4 UNG ZIC2 TCOF1 SLX4 ATP6V0A2 ALX1 FCGR3B FASLG MID1 DRC1 FGFR1 RARA NUP85 PTH1R NCF2 CARD11 RNF113A METTL27 PRPS1 BLM CD4 CLCN7 KIF7 GLA MUSK STING1 HS2ST1 MAP3K7 CTPS1 IL2RB MARS1 SCNN1A UBE3B PUS7 IL21 TNFRSF13C CAT PTEN NADK2 P4HTM CARMIL2 PLOD1 TNFRSF1A PLEC PRRX1 COL6A3 RLIM FLCN DNAJC21 BMPR2 RFC2 AP3B1 TRIM37 FUS RSPH1 NCF4 DNASE1 UBE2T TTC37 B3GLCT PSMB4 OCA2 IL17F CRKL FOXP1 MCIDAS NME8 ALG3 NEU1 SCARB2 SNRPB ORC6 NUMA1 INPPL1 IFT140 ACTA1 SP110 PIGG FBLN5 NFKB1 KIF20A TGFBR2 PRTN3 SMAD4 SERPINA1 SLC18A3 ZNF341 HLA-B SERPING1 RASGRP1 CLIP2 EVC AP3D1 CSPP1 RMRP EPM2A SCUBE3 ZBTB24 PKD1L1 SPINK1 SNAP25 ELANE APOL1 PIGT CTRC CASP10 SCNN1G SMARCE1 IFIH1 DNAI2 HESX1 RB1 ATP6V1E1 CRB2 TTC21B TRIP12 EP300 SAMD9 SFTPB NUP107 SMARCA4 FANCL TGFBR1 BTNL2 ZMYND10 SMC1A MAPK1 KAT6A NCKAP1L SPP1 PLCG2 LACC1 GAS2L2 CASP8 NDUFB10 TNNI3 DPYSL5 PRKG1 TNFSF12 WIPF1 DDX6 DYNC2H1 TBC1D23 ALG9 SCN10A CCR6 KIF1A LZTR1 PIK3CA REST RALGAPA1 CCDC40 SOX4 TAPT1 SGSH TBX6 GP1BB RPL10 TERC SMAD3 COL11A1 TCF3 PRKDC MAP3K20 PCNT DSG1 GPC6 GRIN2A FSHR FANCD2 TRIP4 BGN ARMC2 LMNB1 KMT2E NF1 RTL1 GTF2I IRF5 FCHO1 RTEL1 CFAP221 MYO1E HLA-DPA1 LMNA FOXI1 TNFRSF13B DSP TERT MUC5B TNFRSF11A CCR1 MCTP2 C2CD3 CLPB DNAAF2 TGFB2 SPTBN1 DCLRE1C EFL1 DNAJB13 P4HA2 TSC2 FREM2 MSH6 ODAD1 GATA4 CHAMP1 SIK1 SFRP4 GPC4 RFWD3 FREM1 COPA PRKAG2 CIITA ANO3 STRA6 OTUD5 IL7R GUSB BPTF GCLC PYROXD1 PTPN23 TSC1 HSPG2 PAX6 NFIX DKC1 IGBP1 FOXF1 DOCK8 RET DNAH11 ADNP DVL3 WDR1 RELB PEPD RYR1 FCGR2A LBR HPDL CR2 SMARCC2 COL4A5 COL3A1 NFKB2 DNAJC30 SYT2 BCORL1 CDKN2A CEP55 PSMD12 CHD7 AGO2 NEK8 DCTN4 TLL1 ARHGDIA TYR NOTCH2NLC CRELD1 USP9X SEC24C SPECC1L SOX2 COLQ FOXH1 POLR1D GMNN MYL9 NAB2 ACTN4 WASF1 STAT1 GSTM3 KCNJ10 ASCC1 RUNX2 DNAAF4 FLNA SLC35A1 SCN9A VPS13B DAAM2 FMR1 NPHS2 CDON FANCA STK11 DPAGT1 DHCR7 FMO3 VCP SCARF2 PIEZO2 TCF20 CYBA COQ7 MYOD1 FGF10 PFN1 ETFDH LGI4 SOX9 MYSM1 KAT8 MATR3 MST1R IL17RA EHHADH GTF2E2 GPKOW MASP2 LRBA ORC4 MECP2 MMP21 PON3 SIAH1 CEP120 WNT3 WDR19 MS4A1 SLC11A1 ZFTA IL6R NR2F2 FANCF CHRNA1 HPGD PEX5 ARVCF PKHD1 CITED2 KNSTRN DNAH5 LIG4 ANKFY1 RAC2 TRAPPC4 CTLA4 DLL1 SLC5A7 HPS6 LRRC56 LEPR MADD EXT2 THOC2 GFI1 RBPJ CCNQ GTF2IRD1 NUP37 KIF11 POLE MYCN ASAH1 SPINK5 ZNHIT3 NTNG1 DYM FLII TBX3 TAP2 NUP88 RSPO2 SNAI2 NUP160 LONP1 FGFR2 TGFB3 PGM3 NLRP12 RNF168 ADA ANLN SLC12A2 SNRPN HELLPAR NLRP1 RAC1 SDHD PSAT1 GAS1 LAMTOR2 ETFA RFX5 SNX10 PDGFRA GDF1 AGT SERPINF2 NHLRC2 XRCC2 STAG2 DLL3 TCF4 CYBB GALC NLRC4 AMER1 NOP10 TBL1XR1 CFAP298 CSF2RA CC2D2A ADAMTS3 HK1 IL12A-AS1 CEACAM3 HLA-DQB1 CHRND DSE COL5A1 CYBC1 CD28 FANCC MRPS22 TP63 SEMA4D MFAP5 APC GATM PIGL LAMA3 GDF2 EDNRB SMARCD1 SALL4 EMP2 CHUK MTHFD1 TCIRG1 CD40LG LRP4 HYDIN PLVAP MAD2L2 FCGR2B LIFR SAMD9L GJA1 SEMA3E WRN SMARCD2 SNIP1 PIK3CD COL2A1 ITPR1 COL5A2 POLR3H ACADVL AAGAB NIPAL4 SPAG1 LAT2 NBN MYPN CDT1 PABPN1 BNC1 RPGR FGFR3 IL12B CHRM3 FLT4 DGCR6 SLC25A22 GATA2 CD55 STXBP2 NPM1 CCNF LIMK1 FRAS1 DCTN1 ARHGAP31 CCBE1 SLC52A3 ADAMTS2 TRIP11 ATP5F1A VAMP1 RSPH9 MST1 CCND1 ACP5 LTBP4 WNT7A USB1 FLI1 H19 ALG12 EPHA4 MOGS OFD1 PRKCD DAO NEFH OSTM1 BLNK RASA2 NPAP1 FANCG SFTPC MT-CYB GPC3 XIAP BRIP1 BRCA2 SNORD115-1 FANCM IRF8 PALB2 FGF20 TONSL CD46 WNT4 SH3KBP1 DYNC2LI1 A2ML1 MKKS DNAH1 STX1A HERC2 IFNGR1 TAF15 GAA TRPV4 BMPER TREX1 DNAAF1 DDRGK1 CRLF1 TDGF1 MYH7 DHCR24 HPS1 NFE2L2 TET2 AGA IRF2BP2 TGM1 MYO9A RPS15A SLC6A14 ANXA11 KATNB1 ERCC4 CRTAP SLC34A1 PTPRO MAP3K8 AKT1 GRIP1 CTBP1 ZAP70 MKS1 IRAK4 MAGI2 NKX2-5 EMG1 ZNF699 NDUFC2 CTCF ROR2 RARB LCK WAS LAMC2 SCNN1B MESP2 SLC7A7 COG4 PDGFRB RRAS2 POU6F2 MYBPC3 SLC25A1 UBE2A BCL7B CCN2 GREB1L PML ATM EDNRA CACNA1C KLHL41 COL13A1 MLH1 PPP1R21 BUB1 COMT SOCS1 RAB3GAP2 IL23R SELENON FCN3 IGLL1 MPLKIP CDC45 DNAH9 JAK3 IL1RN CHAT KIF22 RSPO1 IGSF3 TTC12 UNC13A GLUL HRAS TRIP13 NEK1 JAG1 SVBP RRAS TMEM94 FUZ TANC2 TINF2 POLR1B TARS1 BUD23 TYK2 VANGL1 SNORD116-1 LPIN2 PSMB8 COL6A1 PMM2 SLC12A6 MITF RIPK1 SFTPA2 PHGDH BCL11B ODAD3 LAMA2 DDR2 PWRN1 PIGO IL6 ETFB MKRN3 MIR140 DOCK3 EXTL3 TBCE AHDC1 EDARADD FCGR3A FAM111B KLHL40 LAMB2 DNAI1 TTC7A RAB27A BRCA1 PSAP G6PC3 LTBP3 KMT2C SIM1 KEAP1 UBAC2 STX3 SLCO2A1 POLR3A RIPPLY2 DEAF1 PRSS1 BCL6 PEX1 HYLS1 CD3D HELLS ALOXE3 CHRNG CD3G EMC1 PTPRC NOTCH2 ITCH TARDBP IFT43 CD8A VAPB ABL1 SLC46A1 NELFA TNFSF11 FOXC2 NFKBIA SBDS MGAT2 SMO PIEZO1 EFEMP2 FLNC TLR4 AARS2 SPEF2 FARSB CDCA7 SLC34A2 FARSA IRF1 EPG5 SON LOX CD79B UMPS NOTCH3 ERCC3 UNC119 IFNG CDC42 ACTL6A MAPK8IP3 NOD2 ELP1 PRKN IKZF1 EBP CTSC ITK NKX2-1 RAD51 PPP2R1B PDE4D ACTC1 NOS1 TAF1 NR5A1 ODAD4 ARID1A DICER1 RPL5 ITGA3 DPP9 FANCE ABHD11 DOK7 MYH3 DGCR2 NSD1 NHP2 WAC ALOX12B COL14A1 HLA-DQA1 LEP FANCI KDM6A BMP2 NEPRO PAX3 TMEM260 HES7 TRPC6 HMOX1 IL6ST EPHB4 IQSEC2 SKIV2L SMAD2 RIN2 OTX2 ALMS1 GNPTAB IFT172 IL12A VPS33A UFD1 MED13 MRAS EXT1 MAT2A TBC1D24 WRAP53 BCL2 GLT8D1 GTF2IRD2 RHOH SLC9A3 RNF125 PLXND1 PRPH DOCK6 VPS37D BRF1 ARHGAP24 SLC22A18 TCTN3 GLMN ALPL PKP1 TRPV3 LFNG ARNT2 VHL COL12A1 TECPR2 PDHA1 NDUFAF6 CHMP2B HOXD13 IVNS1ABP ECM1 FIP1L1 FAM20C PIK3R1 GALNS MAN2B1 EWSR1 SGCG TRIM28 GRIA4 LAT COL11A2 GIPC1 SDCCAG8 ACTL6B TBL2 NR1H4 MCM4 RSPH3 HEY2 SYT1 CLEC7A ERF ALDH18A1 KATNIP TRAIP ANG SLC26A4 BRAF UBR7 PORCN B2M SLC26A9 TBC1D8B PPP1CB RELA DPM2 TNNT2 CFH HS3ST6 TPM2 CORO1A AGTR1 ASXL1 GSN KDM4B RIPK4 BCR REN ZFPM2 UBA1 POLA1 OCRL GTF2H5 TASP1 PSMC3IP SHROOM4 ITGA7 HFE PURA PTPN11 PET117 IKBKB F5 SREBF1 TFG JMJD1C SQSTM1 MYO1H MAGT1 MYH11 BIRC3 CPLX1 RANBP2 SLC29A3 TRAF3IP2 WBP11 KDM5C NIPBL NSDHL CD2AP ZBTB16 SMCHD1 IRAK1 ACTA2 SETD2 SULT2B1 STIL CCDC22 CNOT3 F12 AASS MALT1 KRT14 NKX2-6 MYMK FBN2 EVC2 CLCA4 LIPN RASA1 PUF60 RBM10 OPTN KCNJ6 PRSS2 LETM1 CAPN15 CYP4F22 MSN CTC1 NECTIN1 NSMCE3 RREB1 TRMT1 WASHC5 COQ8B HAAO FBXW11 SOX11 BTD NSD2 TENT5A MYT1L PANK2 EXOSC9 EOGT SDR9C7 FOXE3 KLRC4 FOXP3 MPEG1 HGSNAT ALG14 GLB1 POLR2A NABP1 DNASE1L3 GPR35 ADARB1 APC2 NAGLU COL4A3 HPS4 DPF2 SYK MLX DGCR8 ATP6V1B2 PAX2 SMARCB1 WDR26 SFTPA1 HDAC4 PON1 GAPVD1 PEX13 PKDCC LRRC8A COL4A6 ADA2 INTU SMARCA2 NEB CALCRL RCBTB1 TNFRSF1B CASR SCN11A ATP11A PRMT7 INVS TK2 MED25 CYP27A1 ERCC6 PALS1 ADAMTSL2 PLCE1 KDELR2 FOXE1 MYO5A SH2D1A ZIC3 TIMM8A KIAA0319L NUP93 PCGF2 JAGN1 TFRC ATXN2 C9orf72 KRT5 SIX2 CHCHD10 COL6A2 FIG4 AGRN IL12RB1 ASXL3 PAFAH1B1 AGGF1 MLXIPL KITLG EIF4A3 IL21R KPTN PLA2G6 CFB TRRAP SF3B4 BAZ1B COG6 UGP2 ADGRG6 PERP SOD1 NTNG2 YARS1 MEIS2 SLC1A4 BMP15 TSPYL1 NDE1 FKBP6 DNAAF5 FAM13A CLDN4 SRPX2 DIS3L2 HTT TNRC6B CYP2A6 SMG8 IFT81 LRP12 HP_ABSENT_OUTER_DYNEIN_ARMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_OUTER_DYNEIN_ARMS DNAAF11 TTC12 DNAAF3 DNAL1 ZMYND10 CFAP300 ODAD1 CFAP298 DNAAF1 DNAAF5 ODAD3 HP_ABSENT_INNER_DYNEIN_ARMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_INNER_DYNEIN_ARMS DNAAF11 TTC12 DNAAF3 CCDC39 ZMYND10 CFAP300 DNAAF1 HP_ABSENT_INNER_AND_OUTER_DYNEIN_ARMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_INNER_AND_OUTER_DYNEIN_ARMS DNAAF11 TTC12 DNAAF3 ZMYND10 CFAP300 HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_PHYSIOLOGY RSPH3 DNAAF11 DNAL1 CCNO RSPH4A CCDC103 TTC12 DNAJB13 CCDC39 STK36 RSPH9 ODAD1 DNAAF1 ODAD3 DNAH5 DRC1 CCDC40 DNAAF3 HYDIN ODAD2 RSPH1 ZMYND10 CCDC65 DNAI1 CFAP298 DNAAF5 DNAH11 GAS8 DNAAF2 DNAI2 DNAAF4 NME8 SPAG1 HP_IMMOTILE_CILIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMMOTILE_CILIA RSPH3 DNAAF11 TTC12 DNAAF3 RSPH4A DNAI1 DNAAF4 CFAP298 HP_ABNORMAL_MUSCLE_GLYCOGEN_CONTENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MUSCLE_GLYCOGEN_CONTENT PHKB PYGM PFKM ENO3 TRMU PHKA2 PHKG2 GYS1 MSTO1 GYG1 MT-TE HP_DIGITAL_FLEXOR_TENOSYNOVITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIGITAL_FLEXOR_TENOSYNOVITIS CIITA IL10 TTR PTPN22 SLC22A4 NFKBIL1 CD244 HP_ABNORMAL_CIRCULATING_SERINE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_SERINE_CONCENTRATION PSAT1 PSPH SLC7A7 PHGDH SLC25A13 HP_ABNORMAL_HYPOTHALAMUS_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HYPOTHALAMUS_PHYSIOLOGY FGFR1 SIM1 DLL1 FOXH1 SHH HS6ST1 TDGF1 STAG2 CDON SMC1A SEMA3A PTCH1 TRH ZIC2 GLI2 GAS1 SMARCB1 ANOS1 IL17RD FGF8 NODAL DCC PROKR2 AKT1 FLRT3 BAP1 DISP1 SIX3 PIK3CA NF2 SMARCE1 CHD7 SOX10 SMO PDGFB DUSP6 TACR3 CCDC141 TERT NDNF FGF17 WDR11 MAGEL2 TGIF1 TRAF7 FEZF1 SUFU PROK2 HESX1 SPRY4 LHX3 HP_ABNORMAL_HYPOTHALAMUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HYPOTHALAMUS_MORPHOLOGY CDH2 CPLANE1 KIF7 GLI3 TCTN3 SMO TMEM216 PDE6D CTNNB1 SPG11 VPS16 FAM149B1 OFD1 SOX2 BRAF LEPR KIAA0753 SIX6 HP_NEOPLASM_OF_HEAD_AND_NECK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_HEAD_AND_NECK MYH11 SDHB SDHC RHBDF2 KIT PDGFRA MSR1 SDHA TP53 COL4A5 STK11 WWOX BLM CHEK2 FOXE1 ASCC1 TGFBR2 RAD21 FH CTHRC1 CDKN2A RSPRY1 MINPP1 DCC APC AAGAB MDM2 HABP2 DLEC1 STAT1 LZTS1 RNF6 COL4A6 COL14A1 HP_TYPE_II_TRANSFERRIN_ISOFORM_PROFILE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_II_TRANSFERRIN_ISOFORM_PROFILE ATP6AP2 ATP6AP1 COG4 COG6 COG5 SLC39A8 COG1 MAN1B1 MGAT2 COG8 HP_HERPES_SIMPLEX_ENCEPHALITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HERPES_SIMPLEX_ENCEPHALITIS UNC93B1 TICAM1 NCKAP1L TBK1 STAT1 TLR3 SNORA31 HP_ABNORMAL_AORTIC_ARCH_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_AORTIC_ARCH_MORPHOLOGY TBX1 SEC24C GDF1 WDR26 PIGN NKX2-6 STRA6 DNAH1 COMT WT1 DIS3L2 GATA6 JMJD1C MYCN CREBBP RTL1 UFD1 SUCLG1 SMG9 PPP1CB MMP21 ESS2 DGCR2 MCTP2 MEG3 PUF60 FOXF1 GP1BB GJA1 BCOR GLI3 NKX2-5 ACVR2B ARVCF PLXND1 KRAS PPP2R1A TMEM260 MED13L FLT4 CRELD1 DGCR6 RREB1 EP300 ALG3 CHD7 HIRA SEMA3E DGCR8 DLK1 PIK3R2 FGFR1 HP_HYPOPLASTIC_AORTIC_ARCH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_AORTIC_ARCH PUF60 FOXF1 BCOR GDF1 PPP2R1A MED13L NKX2-5 PPP1CB GJA1 HP_ABNORMAL_RIB_OSSIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RIB_OSSIFICATION MGP LBR COL10A1 SRP54 BMPER DNAJC21 SBDS SLC26A2 HP_CUTANEOUS_AMYLOIDOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTANEOUS_AMYLOIDOSIS B2M POLA1 IL31RA NLRP1 RET HP_MONOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MONOCYTOSIS PIK3CD NRAS G6PC3 ELANE SRP54 GFI1 KRAS DDX41 TCIRG1 HP_FIBROUS_TISSUE_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FIBROUS_TISSUE_NEOPLASM MLH1 APC NF1 PRLR SUFU PTEN SDHC RASGRP1 KRAS PTCH1 CDKN2B CDKN1B SMARCB1 ELMO2 CASP10 KCNH1 KRT17 FAS DHCR24 FLNA SPTBN1 AKT1 BAP1 SDHB ATP6V1B2 PDGFRB CREB1 MEN1 TSC2 SPRED1 PIK3CA NF2 SMARCE1 MSH6 SDHD FAM20C ABCA5 PLCD1 ANTXR2 KLLN SMO KIT PTCH2 PDGFB GREM1 TSC1 MSH2 TERT CTNNB1 SEC23B CDC73 NOTCH3 RSPRY1 BMPR1A MTAP HRAS IFNG KCNN3 COL4A6 REST PRKCD TRAF7 SOS1 LRP1 CDKN2C PRKAR1A COL4A5 CDKN1A NRAS FASLG USF3 HP_MYELOID_LEUKEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYELOID_LEUKEMIA NRAS TERC ARHGAP26 SETBP1 CBL SAMD9L SRSF2 MAP2K1 BRAF TERT PTPN11 GATA2 F13A1 NF1 ASXL1 TET2 DNMT3A KRAS F13B KIT HP_PYELONEPHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PYELONEPHRITIS KCTD1 HOXA13 CFI DNAJB11 MYH11 EFEMP2 GANAB PKD2 BICC1 SHANK3 BNC2 FBLN5 ALG9 XDH PKD1 HP_ABNORMAL_AUTONOMIC_NERVOUS_SYSTEM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_AUTONOMIC_NERVOUS_SYSTEM_PHYSIOLOGY SCN5A MAPT COL1A1 IL12A LIFR NTRK1 ARSA FMR1 TTR SNCAIP TNPO3 FBXO7 DBH ATXN8OS CYP11B2 ELP1 SLC6A2 SPG11 RELN ADH1C DEPDC5 LEP SCN11A VPS11 HEXB LEPR TXN2 GLA RET CACNA1C AKAP9 EIF4G1 ATXN3 KCNQ1 IL12RB1 KCNJ5 PINK1 SNTA1 PRKN CHRNA3 COQ2 MECP2 PRNP KCNE2 WDR45 PODXL COL5A1 LMNB1 VPS13A WFS1 KCNH2 GBA TBX5 SNCA CISD2 TUBB3 PSAP TRDN GIGYF2 PHOX2B SLC18A2 SCN9A PLA2G6 LRRK2 UCHL1 KIF1B SCN4B TSPYL1 CALM2 ATP1A2 NR4A2 MMEL1 CALM3 TCF4 VPS13C DNAJC6 ATXN2 GABBR2 GMPPA CHCHD2 SOX10 ASCL1 TNFSF15 SCN10A ECE1 ANK2 IRF5 HTRA2 SCN3A POLR3A VPS35 SIM1 KCNE1 B2M ACOX1 SLC1A3 GLUD2 CALM1 CACNA1A CYB561 DNAJC13 TBP ATP7A BRAT1 GBE1 POU2AF1 AAAS NOS1AP PPOX GSN ATP1A3 LGI1 CCT5 PARK7 COL5A2 RFC1 CAV3 SPIB CAV1 SYNJ1 HP_EXTRAHEPATIC_CHOLESTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXTRAHEPATIC_CHOLESTASIS KRAS PALLD RABL3 TP53 BRCA1 CDKN1B CDKN2A PALB2 BRCA2 SMAD4 HP_ABNORMALITY_OF_FOLATE_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FOLATE_METABOLISM CUBN OTUD5 FTCD HLA-DQB1 HLA-DQA1 ZNF699 AMN SPTBN1 HP_ABNORMAL_ENERGY_EXPENDITURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ENERGY_EXPENDITURE SDC3 PPARG NGLY1 CARTPT GHRL UCP3 ADRB2 ADRB3 ENPP1 NR0B2 AGRP POMC HP_ABNORMAL_GLYCOSYLATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GLYCOSYLATION STT3A COG1 ALG11 DPM3 ALG2 SLC35A2 ATP6V0A2 COG2 MAN1B1 STT3B SSR4 ATP6AP1 ALG6 ALG8 GALNT2 DPM2 DPAGT1 CAD DOLK SRD5A3 MPI ATP6V1E1 ALG3 ATP6AP2 COG4 PMM2 COG6 DPM1 ALG1 TMEM199 ALG13 DDOST CCDC115 MGAT2 COG8 RFT1 PGM1 ATP6V1A COG5 MAGT1 EDEM3 FKTN SLC39A8 HP_ABNORMAL_PROTEIN_GLYCOSYLATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PROTEIN_GLYCOSYLATION COG1 ALG11 DPM3 ALG2 SLC35A2 ATP6V0A2 MAN1B1 SSR4 ATP6AP1 ALG6 ALG8 GALNT2 DPM2 DPAGT1 DOLK SRD5A3 MPI ATP6V1E1 ALG3 ATP6AP2 COG4 PMM2 COG6 DPM1 ALG1 TMEM199 ALG13 DDOST MGAT2 COG8 RFT1 PGM1 ATP6V1A COG5 MAGT1 EDEM3 SLC39A8 HP_ABNORMAL_PROTEIN_O_LINKED_GLYCOSYLATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PROTEIN_O_LINKED_GLYCOSYLATION DPM3 ATP6AP1 SLC35A2 COG4 GALNT2 DPM2 TMEM199 HP_DECREASED_URINARY_POTASSIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_URINARY_POTASSIUM SLC12A3 GABRA3 CACNA1S CYP11B2 CLCNKB KCNJ18 HP_BASILAR_INVAGINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BASILAR_INVAGINATION TENT5A KDELR2 MBTPS2 B3GALT6 DKK1 MYF5 HP_FLAT_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLAT_FACE GAD1 COL11A1 PEX6 GNPTAB B3GAT3 CDH11 CAMK2G FAT4 PDE4D PEX11B MAPRE2 PEX1 DNMT3B AMMECR1 FGFR2 CDH1 ROR2 EBP HELLS KMT2A EHMT1 ZBTB24 MYH3 PEX26 PEX12 KIF22 TBX22 LONP1 DCPS SOX9 FLNA ADAMTS3 CCBE1 KAT5 B3GALT6 COL2A1 SMC3 MAN2B1 PEX3 CHST3 EP300 PEX10 KIAA0753 FLNB FGFR3 SUMF1 COL9A2 CDCA7 BPNT2 BRPF1 XYLT1 SLC26A2 SLC39A8 PEX2 COL9A1 TMEM70 PPP1R12A PEX16 GATA1 PEX5 MAF TUBB TWIST1 TMCO1 HSPG2 TRIP11 MATN3 LOXL3 DVL1 AMER1 PAK3 B4GALT7 PEX13 PEX7 TAPT1 SMARCA2 ATP6V0A2 ATRX PEX14 CREBBP WNT5A COL11A2 PAX3 GUSB COL3A1 PEX19 CTNND1 PLOD3 GPC6 PPP2R3C FN1 COL9A3 PRMT7 MN1 HP_ABNORMALITY_OF_MALAR_BONES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_MALAR_BONES COL11A1 SLC35D1 CNOT3 PIGA BUB1B HBB SATB2 FGFR2 PQBP1 FLNB POLR3A POLE FOXC1 COG4 INPPL1 PEX1 DNMT3B MAN1B1 ESCO2 ZNHIT3 FBN1 ROR2 EBP RAB23 BBS7 NDP GORAB SLC6A8 SERPINH1 SLC2A10 NGF FGFR3 PIGV NTRK1 DHODH FAM20C NSDHL BANF1 TCOF1 STAG2 FZD2 SMAD3 LRPPRC PYCR1 ERF AGL BMP4 NECTIN1 UBE2A COL11A2 SLC26A2 MGP MBD5 ACSL4 PTH1R AIFM1 TGFBR1 SHANK3 BLM CHD7 RAB3GAP2 COL9A1 FLNA COL1A1 LARP7 TP63 OBSL1 NOTCH3 GRIA3 ZBTB20 SEC23A MAF FAT4 LOXL3 NFIX DVL1 RSPRY1 FGFR1 RHOA ADAMTSL4 EFTUD2 PEX7 TFAP2A COL2A1 TGDS NONO COL5A1 LBR YY1 XRCC4 ATP6V0A2 DCHS1 WNT5A ATRX AMMECR1 PAX3 HBA2 APC POMGNT1 TAT CRKL ARID1B HDAC4 BCR ATP6V1A PDE4D KCNJ2 POR NF1 RBM8A HDAC8 LRP4 POGZ SEC24C TBL1XR1 LIFR POLR1D SMAD4 COMT NSMCE2 SEMA3E RDH11 JMJD1C KCNE5 PCGF2 DLG3 EHMT1 GSC MYH3 PIGT FAM50A PEX12 TBX22 PRMT7 CUL7 LMNA CCBE1 MAN2B1 CTDP1 POLR1B PSMC3 RLIM ASXL3 CDH11 HERC1 B3GALT6 USB1 SNRPB SIX3 COL9A2 MLXIPL LAS1L CANT1 RUNX2 MAPK1 RAI1 SETBP1 SETD2 HIRA SCARF2 FOXP1 TFAP2B PRKAR1A ACAN RPS26 SF3B4 TBX1 PIK3R1 LRP2 PIGU TBX4 GATA1 BMP2 KIF7 ELN NBN TWIST1 UFD1 HSPG2 POU1F1 DDR2 TMEM165 KIF1A MECP2 TGFBR2 HBA1 SHH LTBP4 SP7 MED12 RNU4ATAC GP1BB TMEM237 ATP6V1E1 POLR1C CTSK SOST KCNH1 PYCR2 ARVCF GLI2 RAB3GAP1 RREB1 PLOD3 GPC6 COL9A3 KIF22 BGN CILK1 TONSL HP_HEMIANOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIANOPIA PDGFB MT-ND1 TUBB2B TERT MT-TL1 MEN1 MT-ND6 BAP1 MT-ND5 USH1C MT-CO2 ADGRV1 MT-TV ESPN CDH23 MT-TF PDZD7 SMARCB1 PIK3CA PCDH15 MT-TW SETD5 MT-CYB MT-TQ AKT1 USH2A TRAF7 CIB2 GPR101 CTNNB1 GNAQ MT-TK AIP MYO7A NF2 SMARCE1 CEP78 SUFU TREX1 ARSG MT-TS2 MT-TC AKT3 USH1G HARS1 MT-TS1 MT-CO3 WHRN CLRN1 BRAF SMO MT-CO1 HP_FATIGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FATIGUE COQ2 SDHD OPA1 FOXE1 COL1A1 PPARGC1A ARNT2 HLA-DPA1 TAF15 TPM3 AGK PTPN22 VHL SOX3 CHMP2B SVIL SLC18A2 GPR101 DNAJC6 CCR1 INSR CBL IVNS1ABP STEAP3 MYH6 FIP1L1 SPTBN1 HFE PIK3CA TGFBR2 FAS P4HA2 SMAD3 PMS2 SDHA SDHB MATR3 TBK1 TSHB AIP MLH3 POLG2 POU1F1 TBX20 MSH2 BCOR LBR SLC2A9 MMADHC ANXA11 DYSF CPT1A PLEC HACD1 HLA-B SDHC PHKG2 PROKR2 PSTPIP1 ANG DMD SEMA4A STAT6 PNPLA8 MPL COL1A2 CDH23 SLC26A4 LHX3 CHRND STAR STAT4 PALLD BRCA1 CFH HLA-DRB1 HAVCR2 UBQLN2 MAX SLC25A26 TPM2 MRAP TRAF3 ACADM BTK ERCC4 FOXA2 KIF23 TET2 DNMT3A CD79A KIT RRM2B ERAP1 TNXB COL5A2 SRSF2 UBA1 PML TLL1 ITGA7 MDH2 HNF4A IL12A CDKN2A BCR BRCA2 PREPL NR3C1 IL23R SQSTM1 IGLL1 ALB NAB2 ERCC5 BIRC3 DBH DMPK PHKA2 TLR3 NPPA YY1 HLA-DPB1 CD244 CIITA ATP7A HEPHL1 TREM2 IL10 UNC13A MYH7 COL9A2 RUNX1 PROP1 ZBTB16 FGF23 SLC22A12 SOX2 HESX1 HNRNPA1 GATA6 DNM1L PIGT UNC93B1 TBX19 PYGM VCP KIF1B PDE8B TSHR NLRP3 EIF2AK4 MDM4 PFN1 LHX4 SLC22A4 TSC2 PON2 MALT1 SLC18A3 ABCC2 SCNN1G CCND1 TP53 POLR3GL CDC73 SMAD4 PON3 STAT5B IRF5 FAN1 OPTN ERBB4 NKX2-1 KCNE1 ABL1 RET PRKAR1A EPAS1 FH CCDC78 SLC40A1 MT-TK KCNN4 CITED2 PSAP PIEZO1 SLC25A11 CFI SDHAF2 PTPN3 SCN4A IL18BP KRAS CTLA4 BCL10 TRHR PALB2 NF1 ASXL1 BMPR1A ATRX MYD88 MLH1 ARMC5 UBAC2 NAGS BCL6 NFKB2 NKX2-5 MEN1 C1QBP CAV3 CFAP410 RYR1 MEFV PAX8 GCH1 KLRC4 SLC2A10 ATM C4A SH2B3 GCK EPOR MYL2 SCNN1B TARDBP VAPB HELLPAR TMEM127 NABP1 GPR35 GBA TFR2 RARA FGFR1 JAK2 FTL TLR4 MLX GLA TSC1 COL9A3 MORC2 ACTA1 PDGFRA TCF4 PON1 SLC34A2 NLRC4 IL21 RPS20 SLC12A3 CARMIL2 MC2R TBL1XR1 DLST TNFSF15 GLE1 XPA PLEKHM1 LRRC8A ALDH4A1 IL12A-AS1 TAFAZZIN PYGL GATA4 ERCC2 SEMA4D FUS XPC HBA2 ATP13A2 IKZF1 USP8 SLC3A1 PIK3R1 DDB2 ACTC1 SLC25A4 NEK1 TK2 NUMA1 IRF2BP2 NNT GNAS PRTN3 NFKBIL1 MET SCNN1A POLG TNPO3 POMGNT1 SYNJ1 WAS CALR ABCD1 SCN5A CD79B ELANE TICAM1 ATXN2 C9orf72 RABL3 MSH6 CHCHD10 TXNRD2 KCNQ1 FIG4 IL12RB1 BTNL2 SERPINA6 COL5A1 IL12B PGM1 EPCAM COMP GATA2 TWNK NPM1 CCNF CTNNB1 SLC11A1 HMGCL DCTN1 BLNK PDE11A OTX2 MMEL1 GLI2 WIPF1 ALAS2 PMS1 SOD1 COL9A1 IGHM ERCC3 UNC45B MST1 HBA1 BCL2 SELENON GLT8D1 AP2S1 EPHA4 KL FOXP1 DAO NEFH TCF3 POU2AF1 GRM1 PRPH PODXL MAP3K20 PRKACA SLC4A1 SPIB STAT3 CD46 HP_ABNORMAL_ENZYME_COENZYME_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ENZYME_COENZYME_ACTIVITY MPV17 GALK1 PIGA CCDC47 ADA2 FLI1 HNF1B DPM1 RNASEH2A TNFRSF13B HADHA MMADHC CPA1 PEX13 GALC ABHD5 TRPV6 NR1H4 FH PKHD1 CBL CLPB MRPS28 STEAP3 ERCC8 NCF2 ARSL CHEK2 SGMS2 HMBS SPTBN1 IER3IP1 PRPS1 GATA1 DAG1 FAM20C MRPL44 MAN2B1 CTSA RPGRIP1L DMP1 AGL MT-ND1 IFIH1 SAMHD1 ADK MRPS16 COG8 POLG2 SC5D TREX1 MT-ND4 PTH1R RHCE ABCB4 BCS1L CPT1A RPS27 TNFRSF11A ABCB11 ATP8B1 MT-ND2 NGLY1 OTUD5 PHKG2 GLRX5 ASL DMD HNRNPA1 SLC35A2 DOLK CYP27B1 RPS20 MMAB HSPG2 SUCLG1 NPC1 MPL TMEM67 SIK3 RINT1 COX16 ALDH5A1 ALMS1 SRP54 CYP7B1 PALLD AHCY CFAP418 POMGNT2 SRD5A3 BRCA1 PHEX DPM2 PEPD SLC22A5 CFH APRT RPS29 COG4 RPS10 GLB1 ACAD9 TNFSF12 KIAA0586 ACADM RPL26 PCCA KIF23 CYP3A4 TET2 GNMT ALPL GPD1 PPOX UROD NPC2 ALDH2 RRM2B RNASEH2C TYMP COG5 SRSF2 ABCD3 ADAR MTRR ADA PRKCD DCDC2 MRPL3 RPS24 NFKB1 B4GAT1 CEBPE ENPP1 ANO10 SLC39A4 CYP2R1 VCP HNF4A BICRA HLA-DQB1 SLC34A1 COLQ IL12A SLC25A20 SIL1 NFKB2 RPL27 CDKN2A DHDDS BRCA2 PIGB COX5A MT-ND5 SLC19A1 EIF2AK3 FLT1 PNPLA2 ALG2 COG2 GPHN SUOX OCRL FBXL4 IARS1 FAH DMPK PGAP2 PHKA2 F5 FBP1 RAG2 SPINK1 SEC23B TCIRG1 TANGO2 LIPT1 COL4A1 GYS2 HFE INPP5E PRF1 RUNX1 SMPD1 SLC30A10 FGF23 CRPPA JAG1 DPAGT1 SLC34A3 RPL15 USB1 HADH IRAK1 MT-TK PSMB9 CCDC115 ESR1 SLC37A4 NOS3 TWNK BAAT PLEKHM1 DPYS DGUOK TGFB1 PKLR RHD PSMB8 DNAJC21 AASS PIGK PMM2 CC2D2A ABCD4 ABCC6 AKR1D1 B3GALNT2 GCDH MICOS13 LYST MPI TP53 HSD17B10 GALM DZIP1L SLC25A13 FAN1 RPL31 TMEM165 PIGO SMAD4 GFM2 IRF5 CPT2 POMGNT1 NFS1 MS4A1 YARS2 USP18 MTTP SLCO1B1 MYC GDF2 KCNN4 PIEZO1 DLD CFI PRDX1 LAMB2 G6PC1 INPP5K IL18BP AMACR RXYLT1 PGAP3 BCR KRAS PSAP RPS17 GAA PAH OGDH PALB2 CASR BTD ASXL1 RPS28 TRAPPC11 KHK CYC1 RPS15A TRMT10C VIPAS39 POMT2 PIGL RPL18 FKRP BCHE MVK KIT OFD1 FADD ATP6AP1 C1QBP PRSS2 ICOS ASPA CD81 RPL35 SBDS OPLAH OCLN FOXP3 MTHFR PIGV RPL35A HEXB IDS POMK STAT4 MT-ND3 ACOX1 FTCD LARGE1 STXBP2 PRKCSH PLA2G7 GNPTG HELLPAR SQSTM1 GPR35 DNAJC19 TSR2 RAG1 UQCRC2 TFR2 VPS13A ALAS2 MGAT2 WARS2 PIGY SCO1 LIPA PEX16 RBCK1 TRMU CD19 CAT NSMCE2 FARSB RHAG SLCO1B3 TCF4 ATM CYBB STX11 FARSA MARS1 TFAM ATRX CBS RPL5 NADK2 POLG DPM3 PLOD1 ALG6 MT-TW TNFSF15 PIGS RNASEH2B PYGL CFTR ALAD ALDH4A1 PLEC LCT ATP7B JAK2 RPS26 MCM6 DPYD COG6 ALDOB RB1 PIGW SEMA4D POMT1 FKBP10 SLC7A7 IKZF1 ZNF687 MOCS1 EFL1 PIGQ DDOST PSMB4 GPI SLC2A2 CTRC RPS14 GALT TNFRSF11B GLYCTK SLC25A4 ALG3 TKFC SLC51B CYP27A1 SP110 HADHB COG7 CDAN1 HLA-DRB1 VPS33B UMPS IFT172 MMAA NCF1 SI PITRM1 HLA-B TNPO3 MMACHC CALR UNC13D WDR35 ALG8 GSS ASAH1 MT-ATP6 DAXX ACADVL ERCC4 PIGT MCCC2 RABL3 POLD1 LMBRD1 CYBA ELMO2 CNOT1 CR2 BMP2 VDR GNPTAB KY CORIN FKTN IL12RB1 TMEM199 MOCS2 PCCB HSD3B7 RPS19 HJV STOX1 CAVIN1 ABL1 PGM1 RPS7 FXN GBA NBAS BSCL2 HNRNPA2B1 ALG11 ERCC6 SPP1 PLA2G6 MTX2 HMGCL RPL11 HSD17B4 SLC25A15 CTNS MT-TL1 SERPINA1 MMEL1 HAMP LRPPRC XDH MST1 HBB LHX1 CLCN7 LBR TNFRSF13C CSPP1 MT-ND6 ALG12 PEX19 GNE SDHD ALDOA LDHA SOST ATP6AP2 LARS1 HLA-DQA1 MYH9 AGPAT2 POU2AF1 DLAT BCAT2 DMGDH MT-TV SLC4A1 ACSF3 SAR1B PRSS1 SPIB CP MTR CD46 HP_LEFT_TO_RIGHT_SHUNT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEFT_TO_RIGHT_SHUNT TBX20 CITED2 THOC6 ACTC1 GATA4 GATA6 MYH6 TLL1 NKX2-5 HP_RHINITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RHINITIS CFAP221 GFI1 DNAH1 ODAD2 RSPH4A DNAAF2 DBH RSPH1 DNAH9 IL4R TNFSF11 MCIDAS SLC29A3 DNAI2 COX4I2 SPINK5 DNAAF4 RFXANK TTC12 SPAG1 DNAL1 PGM3 DNAAF1 DNAJB13 RFXAP CFAP300 CCNO RSPH9 DRC1 CCDC65 RAG1 FOXJ1 IDUA ZMYND10 DNAI1 SNX10 NEK10 ODAD1 RSPH3 CLCN7 GAS2L2 SPEF2 CCDC39 SRP54 CCDC103 DNAAF6 PLCG2 ODAD3 CIITA SIK3 CARMIL2 CFAP298 ZNF699 DNAH11 DNAAF3 CCDC40 GAS8 ALG12 EDA ODAD4 DNAAF11 TCIRG1 EDARADD DNAAF5 BLM ELANE MS4A2 SLC27A4 OFD1 RFX5 HYDIN RAG2 NME8 DNAH5 RPGR PLA2G7 LRRC56 STK36 HP_BRONCHITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRONCHITIS TNFRSF13B FCHO1 NFKB2 SCNN1G GNPTAB SERPINA1 SLC34A2 IL17RA SCNN1A TNFSF12 CCDC39 RAC2 MAGT1 NBN DNMT3B TAP1 DNAAF1 ODAD3 CD79B TAPBP ZBTB24 CARMIL2 CRLF1 ICOS CD79A TAP2 CFAP298 CD81 ALMS1 TNFRSF13C IL2RG GAS8 HLA-DQA1 HLA-DQB1 EGFR MS4A1 SMARCA2 SPAG1 DNAAF11 CR2 RSPH4A RPGR CFTR DNAJB13 BLM PRKCD CCDC40 MGP HYDIN ODAD2 CD19 SCNN1B ZMYND10 CCDC65 NOS1 SYK DNAAF5 NFKB1 ATM RNF168 CACNA1C HP_APPENDICULAR_HYPOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APPENDICULAR_HYPOTONIA PRPS1 NRROS GEMIN5 UNC80 GNPTAB GBA HP_ANAL_FISSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANAL_FISSURE CYBC1 ADAM17 COL7A1 EGFR MMP1 HP_HYPOREFLEXIA_OF_UPPER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOREFLEXIA_OF_UPPER_LIMBS ATP6AP2 MT-TE ACOX1 PMP22 RYR1 RUBCN ST3GAL5 HP_ALLERGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALLERGY MTOR PGM3 FOXP3 ADA JAK1 CCDC28B PLCG2 ARL6 MS4A2 SLC27A4 CTLA4 BBS1 FOXP1 SIK3 CSTA CARMIL2 IL4R TGM5 IL6ST RBM8A PLA2G7 COX4I2 SPINK5 CHD1 PSTPIP1 SPTBN1 SOX6 HP_AORTIC_ATHEROSCLEROTIC_LESION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AORTIC_ATHEROSCLEROTIC_LESION CYP7A1 ABCG5 APOE LDLR ABCG8 LDLRAP1 LMNA APOB PCSK9 HP_PERIPHERAL_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_EDEMA FLNC FSHR SLC34A2 KIF20A TLL1 MYPN KIF1A TNNI3 TNNT2 ZNHIT3 HP_ABNORMAL_ALDOLASE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ALDOLASE_LEVEL DAG1 B3GALNT2 ALDOB SIL1 INPP5K LARGE1 FKTN POMT2 CRPPA RXYLT1 TGFB1 POMT1 FKRP POMGNT1 POMGNT2 B4GAT1 COL4A1 HSPG2 ALDOA POMK HP_ABNORMAL_URINE_ALPHA_KETOGLUTARATE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_ALPHA_KETOGLUTARATE_CONCENTRATION TBC1D24 OGDH COX16 ALDH4A1 GLUD1 SDHB DLD ATP6V1B2 AASS PIGB HP_INCREASED_URINE_ALPHA_KETOGLUTARATE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_URINE_ALPHA_KETOGLUTARATE_CONCENTRATION TBC1D24 COX16 ALDH4A1 GLUD1 SDHB DLD ATP6V1B2 PIGB HP_MEDULLARY_NEPHROCALCINOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEDULLARY_NEPHROCALCINOSIS ADAT3 ENPP1 TOR1A ABCC6 FGF23 MAGED2 SLC34A1 SLC34A3 HP_PURE_RED_CELL_APLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PURE_RED_CELL_APLASIA RPS29 RPS28 RPL11 RPS10 GATA1 RPS26 RPS15A RPL27 ADA2 RPL26 RPL18 RPL15 TSR2 RPS19 TP53 RPS20 PNP RPL5 RPS7 RPL31 EPO RPL35 RPS17 RPS27 RPL35A RPS24 HP_PREMATURE_PUBARCHE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_PUBARCHE NDN HSD11B1 SNRPN SIM1 MAGEL2 OCA2 MEN1 HSD3B2 TANGO2 CYP11B1 MKRN3 AIP PAPSS2 HP_PREMATURE_ADRENARCHE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_ADRENARCHE NDN HSD3B2 SNRPN SIM1 MAGEL2 OCA2 USP7 CYP11B1 HP_ABNORMAL_BLOOD_GAS_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_GAS_LEVEL ABCA3 CNOT1 SFTPC GDF1 TPM2 RHAG HACD1 HBB HLA-DRB1 ENG RYR1 PHOX2B CACNA1S ACTA1 SLC34A2 TPM3 MED13L SFTPB SLC35A1 GATA6 EIF2AK4 NKX2-1 MAP3K20 BTNL2 FGFR3 SMPD1 RHCE ZFPM2 PTRH2 CSF2RA FBN1 SELENON RHD CSF2RB LRP12 MYL2 ITGA7 HP_MECONIUM_STAINED_AMNIOTIC_FLUID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MECONIUM_STAINED_AMNIOTIC_FLUID ALDH7A1 ATP8B1 PLPBP SLC13A5 NR1H4 ABCB11 ABCB4 HP_OPTIC_DISC_DRUSEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_DISC_DRUSEN XYLT1 XYLT2 LCA5 LRAT MFRP SPATA7 TMEM98 RPE65 ABCC6 HP_PROMINENT_CALCANEUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_CALCANEUS GFM2 RSPRY1 DYM DLK1 OBSL1 RTL1 CCDC8 SATB2 MEG3 HP_APLASIA_HYPOPLASIA_OF_THE_CEREBRAL_WHITE_MATTER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_CEREBRAL_WHITE_MATTER SLC2A1 FDXR MT-TS1 MT-TS2 MT-TQ MT-CO3 MT-TL1 NACC1 ZEB2 PSAT1 MT-ND6 MT-CO1 MT-ND1 MT-TW WARS2 STRADA MT-ND5 TMX2 KDM1A MT-TH MT-ND4 MT-TF MT-CO2 NARS1 HP_CEREBRAL_WHITE_MATTER_HYPOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_WHITE_MATTER_HYPOPLASIA TMX2 NACC1 ZEB2 KDM1A SLC2A1 PSAT1 WARS2 FDXR STRADA NARS1 HP_CHRONIC_FATIGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_FATIGUE MC2R MRAP SMAD3 CDKN2A BRCA2 STAR SMAD4 TK2 KRAS EIF2AK4 PALLD PSAP IVNS1ABP RABL3 NNT TP53 ALDH4A1 BRCA1 PALB2 NLRP3 TXNRD2 MDM4 HP_ABNORMAL_SOCIAL_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SOCIAL_BEHAVIOR NDUFS4 IREB2 FMR1 PSAP GTF2I TOMM40 CNTNAP2 GRIN1 GTF2IRD1 ALG13 SPEN MEF2C GABBR2 NDUFS7 STXBP1 RARS1 AP4S1 SH2B1 ADSL APC2 SPTBN1 ARSA NDUFS1 ACOX1 MFF CHD2 DLK1 RPE65 KANSL1 AP4E1 NEXMIF POLA1 PODXL LRAT CDKL5 ABCC8 RNF113A METTL27 SLC6A1 TBL2 TUBB3 EP300 NALCN SYT1 NLGN4X NF1 ITPR1 ABCA7 FOXG1 DEAF1 GRIA3 NDUFAF3 SLC25A12 SHANK3 TSC1 GABRB3 PIGP LCA5 GABRG2 TSC2 CACNA1H VPS13C ERCC3 SLC2A1 NDUFC2 IQSEC2 ADNP DOCK7 HTRA2 ERCC2 MED13L FOXRED1 SMARCA2 SLC6A8 NONO AGTPBP1 MECP2 NCF1 DPYD RFC2 PUS3 SYNGAP1 NDUFA6 NDUFB10 FOXP2 DNAJC30 NDUFAF4 NDUFV1 MT-ND1 NDUFB9 CLP1 PARK7 TET3 FLCN NDUFS8 BCL7B NDUFAF1 GTF2H5 TBR1 PSEN1 SCN1A OPHN1 NEUROD2 RAB11B AP2M1 GPHN CLIP2 PCDH19 EBP CDC40 MPLKIP ABHD11 NDUFAF2 COX10 NDUFV2 ELN SLC25A1 NLGN3 NTNG1 PIGH EIF4H LAT2 NDUFB11 SORL1 STX1A APP CREBBP NDUFA11 RLIM PINK1 PRKN HERC1 ST3GAL3 MT-ND2 NDUFAF5 TARS1 MED12 BUD23 TWNK SMC1A SNCA FRMPD4 SETD2 RTL1 ALG11 LIMK1 NTRK2 CLDN3 ARFGEF2 LRRK2 UCHL1 BAZ1B NDUFS2 AP4B1 NDUFAF8 CACNA2D2 MICOS13 COG6 UGP2 MT-ND3 SPATA7 SNRPN TBC1D23 GNB5 NDUFS6 KCNT1 DNAJC6 SMG9 SETBP1 GTF2E2 CAMTA1 NLGN1 NDUFA1 GALNT2 C12orf4 PSEN2 PUF60 TIMMDC1 GFM2 GTF2IRD2 NUBPL EXTL3 PPIL1 NDUFS3 UBA5 JRK TREM2 FKBP6 AP4M1 GABRA2 CLDN4 VPS37D CUX2 NDUFA13 MEG3 MLXIPL GABRA1 SPATA5 AP3B2 GFM1 TMEM270 NDUFB3 TMEM126B SYNJ1 HP_DELAYED_SOCIAL_DEVELOPMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_SOCIAL_DEVELOPMENT FOXP2 LCA5 LRAT TUBB3 SPATA7 ITPR1 ABCC8 CDC40 COG6 APC2 PPIL1 RPE65 HP_ABNORMAL_GALLBLADDER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GALLBLADDER_MORPHOLOGY SLC4A1 SEC24C HBB SPECC1L GTF2I ENG CCDC47 SPTB ARSA COMT GYPC EPB41 GTF2IRD1 PKLR GATA6 JMJD1C FECH CLIP2 SCNN1G ABHD11 CYP27A1 DMPK PIEZO1 PFKM GBA ELN SEC23B KDM5C PKHD1 EIF4H ABCB4 CNOT1 LAT2 EPB42 STX1A SON ANK1 GPR35 SCNN1B SC5D ALAS2 BUD23 RFX6 METTL27 TBL2 ALDOA HIRA PSAP ACVRL1 LIMK1 CLDN3 ABCB11 HK1 CYP7A1 TBX1 BAZ1B ATP8B1 BLVRA TCF4 VPS4A UFD1 ABCG8 SMPD1 FOXF1 MST1 SCNN1A UROS UQCRFS1 GTF2IRD2 GP1BB PEX19 INTU GNE SMAD4 SPTA1 NCF1 RFC2 BPGM FKBP6 ASXL1 ARVCF SEMA4D GCGR AIRE CLDN4 KCNN4 DNAJC30 VPS37D B3GLCT GPI MLXIPL GDF2 RREB1 TPI1 TMEM270 BCL7B MED25 HP_ABNORMAL_BILIARY_TRACT_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BILIARY_TRACT_MORPHOLOGY PHKG2 CEACAM6 HFE RNF43 IL12A ARSA SERPINA1 STX1A CLDN1 GATA6 GBA PEX1 TNPO3 KIF3B NPHP3 GSTM3 WDR35 DCDC2 PKHD1 CEP290 TMEM216 TGFB1 LONP1 RFXANK INPP5E ABCB4 ZIC3 ITCH RPGRIP1L RFXAP IL12RB1 JAG1 STK11 GPR35 HMOX1 RFX5 TMEM67 RFX6 IL21R SLC6A14 BCS1L PSAP CFTR CIITA PEX2 LMNA CC2D2A FARSB HSD17B4 MICOS13 TCF4 MKS1 MIF GCLC MMEL1 CLCA4 DZIP1L PEX5 POLG SLC26A9 MST1 TNFSF15 LBR FCGR2A IRF5 USP9X IL36RN CEACAM3 SLC11A1 LMBRD1 SLC9A3 SEMA4D GCGR POU2AF1 KCNN4 ERCC4 PTPN3 TTC7A SCARB2 SPIB CD40LG DCTN4 EDNRA HP_ABNORMAL_MYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MYELINATION KLC2 EXOSC1 NDUFS1 TAF2 SURF1 PIGA ZNHIT3 NTRK1 PDYN SLC12A5 CACNA1A POU3F3 ADGRG1 ATP7B GAA ERCC8 LITAF PEX1 SLC25A22 MT-ND6 DPM1 RNASEH2A EGR2 NEFL SELENOI PEX13 GALC PGAP1 EXOSC2 HARS1 SYNJ1 RERE PMP22 NGF GEMIN4 SH3TC2 MPZ SPTAN1 FCSK HLA-DQB1 CDK19 ATP6AP2 RHOBTB2 SPTBN1 SLC13A5 IER3IP1 TXN2 DHX30 PRPS1 COX6A1 ERCC2 AIMP2 NKX6-2 MT-TS2 QARS1 ERCC6 GDAP1 DARS1 MTRFR PSAP MT-ND1 PC IFIH1 STXBP1 SAMHD1 SUMF1 MDH2 SLC16A2 MT-ND4 NUP188 MPV17 CNKSR2 LIAS AIFM1 CLTC KCNA1 PIGP KATNB1 MTHFS GABRB2 SPG11 POLR3B EP300 ARF1 SYT1 LIPT2 NTRK2 ERCC3 MT-ND2 NGLY1 GABRA2 TRAK1 ABCA1 GAN ARHGEF10 KIF1B GPT2 CARS1 CDKL5 NDUFAF3 SLC35A2 MANBA TREM2 CASK SLC1A2 MADD PLP1 SPATA5 PIGN ALDH5A1 ZNF699 ZFYVE26 PEX7 RNASET2 AHCY MAPK8IP3 TACO1 AFG3L2 LIPT1 SIK1 PLEKHG5 ZFR SLC19A3 FOXRED1 MAT1A MLYCD SLC6A8 PLPBP TFG PDCD1 ATXN2 EPRS1 ASXL1 INSR FAR1 POLR1C MORC2 PPP2R1A RNASEH2C NDUFB9 MT-TW CLP1 UGDH NDUFS8 NRROS TYMP ATP6V1A NARS2 COG5 ACTL6B EIF2AK2 SETD1A PNPT1 ADAR GTF2H5 CNNM2 ARNT2 GCDH LMNB1 UBA5 RNF168 RARS1 ISCA1 RRM2B SLC2A1 DMXL2 DNM1 PURA ERCC5 DNMT1 ACER3 TRIM8 YIF1B GMNN MT-ND5 INTU ALG2 PSAT1 NDUFAF4 UBTF ERCC1 CDC40 MPLKIP NUBPL CNTNAP1 FBXL4 TMTC3 PGAP2 EGF FGD4 TMEM240 NDUFAF2 TRMT5 PET100 NDUFV2 SLC25A1 SACS TREX1 TBCE ASNS OCA2 LMX1B NDUFA12 PNKP FAM126A GLUL NDUFS2 ZNF335 RAB7A SLC33A1 NDUFS3 KIDINS220 SMPD1 COX15 SLC30A10 SHPK CYFIP2 DPAGT1 RNF13 COPB2 UBE3A TBC1D24 MT-TK PARS2 TBCD GRIN2A NDUFAF5 GTPBP3 TARS1 AARS1 TAF13 SCN3A DAG1 NDUFA13 FRMPD4 CTNNB1 DHX16 NDUFS7 ADAMTSL1 CREBBP EEF1A2 SCN9A COQ7 DCX GNAO1 MTRR PMM2 SLC12A6 CLDN11 GJC2 PIGU MED27 C2orf69 TUBB4A PLAA WWOX SMG9 GTF2E2 PRX NDUFA1 NDUFS4 RFC1 AIMP1 KDM1A SATB2 ZC4H2 SDHA PEX16 D2HGDH MT-TF PPP3CA NARS1 ADAT3 HK1 AHDC1 GRIN2D BCAP31 BRAT1 MT-TQ BAG3 GNB4 ALG13 TRAPPC2L PLEKHG2 SPTLC1 TRIM2 DALRD3 COX6B1 VPS11 EXOC8 CTC1 ECHS1 HS2ST1 NMNAT1 TRAPPC11 SMPD4 ZMIZ1 IREB2 CNOT3 MT-TS1 PIGL LAMB1 POLR3A MTMR2 COX14 DHH MARS1 FANCB SIGMAR1 PRF1 C2CD3 MME GRM7 EDNRB PIGG PIGQ PIGV TRMT10A HEXB ALG14 POLR2A ADSL TIMM22 PPP2CA RAB3GAP1 ARSA IBA57 MT-ND3 ACOX1 PGM3 GLYCTK SDHB SCN1B TPRKB LRPPRC NACC1 TRNT1 KCNA2 NCDN FLVCR1 ADARB1 BMP4 GABRG2 L2HGDH SNORD118 ISCA2 VPS13A KCNJ10 INF2 WARS2 PIGY NDUFA2 EIF2B5 NECAP1 GATAD2B RNF113A BRPF1 NDRG1 ARID1B MT-TH CYB5R3 MTFMT CELF2 WDR26 ACY1 ACBD5 GFAP FOXG1 PPP1R15B HCN1 TMEM63A PHACTR1 ABAT CUL3 SOX10 SLC25A12 ALDH3A2 ITPA SHANK3 DCAF8 MT-CO1 MRPS22 NADK2 PKDCC SBF2 PIGS RNASEH2B HSPB8 ALDH6A1 UFC1 YY1 EIF2B2 APTX ARV1 PTEN UPB1 NDUFA6 PIGW NDUFB10 KIF1A MOCS1 DDOST CYB5A NDUFV1 FGF13 ALG9 ELOVL4 FLCN TKFC BOLA3 ALDH7A1 RBM8A NDUFAF1 PDHA1 TGFB1 CYP27A1 SP110 DDX6 POGZ PGAP3 FIG4 COG7 ERCC4 LEMD2 HLA-DRB1 FA2H RAB11B AP3B2 RAI1 DHX37 HNRNPU KIF5A TYROBP MT-TL1 PRUNE1 KCNB1 RAB3GAP2 KMT2E PAK1 COX7B AP3D1 SNIP1 SCN2A ABCD1 DNM2 ALG8 MMACHC MT-ATP6 ELP1 GNB1 DARS2 NEUROD2 PHGDH GABRA5 POLG COA8 PRMT7 MT-CO2 NDUFA9 MAN2B1 NDUFAF6 HTRA1 CTDP1 NDUFB11 EIF2B1 TMEM106B NDUFA11 HSPD1 MOCS2 FLRT1 NDUFA10 GLRX5 DEGS1 WNK1 CACNA1B SCO2 EXOC2 ACO2 KIF1C GLS ALG11 FOXP1 PYCR2 TRRAP JPH1 HSD17B4 SBF1 FDXR CLTCL1 DHDDS NDUFA4 NDUFAF8 NR2F1 MT-CO3 CLCN4 SCN8A GJB1 ASPA HACE1 PIGO VPS33A NDUFS6 ARX KCNT1 MTTP YWHAG STAMBP SYNGAP1 FGF12 ALS2 TIMMDC1 LMNA EIF2B4 ALG12 PEX19 SLC1A4 PMP2 PPIL1 CSF1R NDE1 DYRK1A RETREG1 OSTM1 IDUA DNAJC3 NUS1 NDUFB8 PRKDC HIKESHI MT-TV TUFM DHFR SZT2 GFM1 MCOLN1 MMUT SEPSECS EIF2B3 KARS1 NDUFB3 RMND1 TMEM126B FUS SOX3 MFN2 HP_DELAYED_MYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_MYELINATION EXOSC1 ZMIZ1 IREB2 TAF2 CNOT3 PIGA SLC12A5 AHDC1 POU3F3 SLC25A22 DPM1 SLC13A5 FANCB EXOSC2 PIGQ GEMIN4 TRMT10A PIGV VPS11 ALG14 POLR2A ATP6AP2 TIMM22 KDM1A PPP2CA RAB3GAP1 RHOBTB2 SPTBN1 IER3IP1 TXN2 DHX30 GLYCTK SCN1B NACC1 TRNT1 NCDN ADARB1 BMP4 MDH2 SLC16A2 WARS2 NUP188 AIFM1 GATAD2B KCNA1 PIGP MTHFS ARID1B MADD EP300 CYB5R3 ARF1 SYT1 LIPT2 NTRK2 NGLY1 GNAO1 ACY1 RNF13 FOXG1 PPP1R15B TMEM63A ZC4H2 CARS1 PHACTR1 CDKL5 CUL3 SLC35A2 ITPA SHANK3 CASK ACTL6B MRPS22 PKDCC WWOX STXBP1 PIGS PIGN ALDH5A1 ALDH6A1 PEX7 AHCY MAPK8IP3 SIK1 UFC1 MLYCD SLC6A8 PLAA YY1 PLPBP UPB1 ASXL1 FAR1 MORC2 CYB5A PPP2R1A RNASEH2C ALG9 CLP1 UGDH ELOVL4 NRROS COG5 FLCN EIF2AK2 TKFC SETD1A ALDH7A1 RBM8A TGFB1 ARNT2 GCDH DDX6 POGZ ISCA1 COG7 RAB11B SLC2A1 DMXL2 PURA RERE DHX37 HNRNPU KIF5A TRIM8 GMNN PRUNE1 PSAT1 KMT2E PAK1 COX7B PRPS1 AP3D1 CDC40 PGAP1 SCN2A FBXL4 TMEM240 TRMT5 GNB1 SLC25A1 TBCE NEUROD2 ASNS FOXRED1 PRMT7 LIPT1 OCA2 LMX1B PNKP MAN2B1 ZNF335 KIDINS220 SMPD1 COPB2 UBE3A TBC1D24 TAF13 FRMPD4 GLS CTNNB1 ALG11 FOXP1 ADAMTSL1 CREBBP TRRAP ADAT3 DCX MTRR PMM2 FDXR CLTCL1 NR2F1 PIGU CLCN4 HACE1 VPS33A ARX KCNT1 SMG9 STAMBP PNPT1 SATB2 ALG12 D2HGDH PPP3CA NARS1 PPIL1 UBA5 BRAT1 CDK19 ERCC6 ALG13 TRAPPC2L HIKESHI PHGDH DHFR GFM1 MMUT SEPSECS EXOC8 RMND1 HS2ST1 NMNAT1 HP_CHRONIC_CONSTIPATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_CONSTIPATION MYH11 USP9X RORA LMNB1 NGLY1 COL1A1 BICRA RAI1 ODC1 PPP1R21 LMNB2 PHOX2B FAR1 UGP2 USP7 SLC12A2 TBCD MYO1H POU4F1 ELN OTUD6B TRIO SH2B1 PCGF2 SMO IGBP1 MAGEL2 MADD MECP2 PPP1CB MNX1 MEFV ADNP TNFRSF1A CNP SETD5 MOGS VPS35 UPF3B SPOP MLYCD ADAT3 MED13 AFF3 DNAJC13 ZNF292 CREBBP EIF4G1 TANC2 EP300 MSL3 LRRK2 FGF12 WASF1 COL5A1 MLXIPL COL5A2 GBA EIF5A GATAD2B UBE2A PSMB8 SETD1A HNRNPH2 POGZ GIGYF2 HS2ST1 SNCA HP_RESTLESS_LEGS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESTLESS_LEGS PARK7 NEFL VPS13C SNCA PINK1 ATXN7 FTL PRKN HTRA2 LRRK2 UCHL1 DNAJC6 SYNJ1 PODXL MFN2 HP_ELEVATED_TRANSFERRIN_SATURATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_TRANSFERRIN_SATURATION TFR2 HFE HAMP PKLR HJV SLC40A1 HP_INFANTILE_SPASMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFANTILE_SPASMS SEPSECS ST3GAL3 DMXL2 ARX DHX37 HIBCH STXBP1 TRIM8 PTPN23 GRIN2B MT-ND5 ALG2 PDHA1 ALG13 ACTL6B CDC40 PLCB1 SCN2A ZNHIT3 GABBR2 NTRK2 MMACHC MT-ATP6 PHACTR1 PIGQ NTNG1 NEUROD2 CNPY3 TANGO2 ADGRG1 APC2 SPTBN1 PNKP MT-ND3 NPRL3 PIGA SRPX2 SCN1B NEXMIF MT-ND1 TSC2 MT-TK PAFAH1B1 MGAT2 SPTAN1 CDKL5 MT-ND4 SLC25A22 SMC1A KCNA1 DEPDC5 SIK1 PIGP MAPK1 DHX16 DCX MT-ND2 NGLY1 GNAO1 GCDH RNF13 CLCN4 MT-TL1 CUL3 SLC35A2 ALG14 SLC19A3 CASK TSC1 PI4KA TUBA8 KIF1A MT-TW GRIN1 DOCK7 VPS53 RALGAPA1 IFNG MT-ND6 MECP2 HK1 SLC1A4 WDR45 PPIL1 KDM4B KCNB1 LONP1 TSEN15 CDK19 NDUFAF8 SLC25A10 TSEN2 FBLN1 SPATA5 MT-TV CDH2 TSEN54 STRADA ASAH1 FOXG1 NPRL2 GUF1 TSEN34 BTD HP_THICK_VERMILION_BORDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICK_VERMILION_BORDER FIBP SMARCA2 A2ML1 EXOSC1 NF1 GTF2I KIF11 RIT1 KCNJ8 SH3PXD2B KCNH1 GTF2IRD1 PUS7 MYCN VPS51 KRAS RTL1 ABCC9 SPEN APC RAF1 GPC4 TRIO GPR101 CAMTA1 EDARADD EIF2S3 ZNF41 TWIST2 NFIX STRADA SLC9A7 IDS ECM1 SPTBN1 KAT5 ADAM22 ZNF81 BRAF NAA10 ANKRD11 CBL STAG2 FRMPD4 CHD2 TBCK KREMEN1 AGA INSR ZEB2 AGTR2 PTCHD1 SIN3A SOS2 SNX14 TRAF6 ARX AIP SC5D PSAT1 RNF135 FTSJ1 PAK3 IDUA CDKL5 PTH1R SOX18 DPF2 ACSL4 FLNA METTL27 SLC6A1 CIT TBL2 SOS1 ATP6V1B2 ARID1B PIGL MADD CUL4B SMARCB1 ERF GLA EDAR HECW2 LARP7 NRAS OBSL1 DEAF1 GRIA3 CDC6 CWC27 ZBTB20 SMS FRMD4A MAN1B1 SETD1B SMARCC2 SYP AMER1 P4HTM DLG3 TOE1 RSPRY1 NANS ZNF699 MEG3 ADNP CDT1 DOCK7 MED12 RPS7 EHMT1 EDA NONO YY1 KDM4B KAT8 AFF3 NCF1 HUWE1 RFC2 SYNGAP1 ATRX AMMECR1 KIF15 ORC1 DNAJC30 BRCA1 DYRK1A GMNN MOCS1 CCDC8 RRAS2 FOXP1 NAGA UGDH SMARCD1 FBN1 NEXMIF OGT RNU4ATAC GNS BCL7B ORC6 DMD MCM5 AUTS2 TASP1 SCN1A ARID1A AFF2 ZNF711 COG7 LTBP3 CNKSR2 MID2 SOX4 PTPN11 ARID2 PPP1R21 ACER3 RPS23 AP2M1 SHOC2 ARHGEF6 SOX11 C12orf57 CLIP2 CNTNAP1 KCNE5 ABHD11 RAB39B AP1S2 SCUBE3 SET FUCA1 ORC4 GDI1 ANTXR1 ELN DENND5A RPS6KA3 SMARCE1 CYP24A1 ALG13 CUL7 EIF4H XYLT1 LAT2 MECP2 HRAS WDR26 STX1A USP27X SEC31A MINPP1 MRAS MOCS2 RRAS CDH11 SLC35A2 SMARCA4 MLXIPL SLC2A1 TSPEAR BUD23 TSPAN7 KDF1 PSMB8 LIMK1 PPP1CB CLDN3 HNRNPH2 TFAP2B NSUN2 CDC45 KDM6B TBC1D24 BAZ1B PTDSS1 IQSEC2 TCF4 STEEP1 COG6 RNF2 RIN2 ADAMTS2 PHGDH VPS33A EBF3 IL1RAPL1 SMG9 NOG KCNN3 LZTR1 GALNT2 DPYSL5 UPF3B COL11A1 ERMARD USP9X NEU1 GTF2IRD2 ADAT3 CLCN4 THOC6 KIFBP PYCR2 FKBP6 SRD5A3 KCNK9 CLDN4 RASA2 VPS37D HCFC1 EDEM3 RET TMEM270 AP4S1 SMG8 DLK1 RBMX OFD1 KMT2C HP_ECLABION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECLABION ERCC2 SMARCA2 TBL1XR1 RPL10 LRP6 TFAP2A GTF2I ALOX12B MAFB WT1 BMP2 GTF2IRD1 MCOLN1 TGFA PUS7 SDR9C7 MYCN SOX11 CLIP2 FGFR1 SLC25A24 ABCC9 FOXC1 ABHD11 FBXL4 KANSL1 ABHD5 IRF6 WDR35 EHMT1 ALOXE3 NIPAL4 ELN WNT10A OBSL1 KMT2C MED25 AP4S1 EDARADD BDNF HGSNAT RPS6KA3 PAX9 EIF4H ABCA12 PAX6 LAT2 DHX30 NAA10 MSX1 IFT43 STX1A MAP1B CCDC8 ASXL3 AP4E1 FHL1 IFT52 TGM1 NFIX ZSWIM6 SULT2B1 MGAT2 IDUA PSAT1 SUMO1 MBD5 MYO18B EEF1A2 BUD23 EDNRA PLXND1 ERCC1 CHAMP1 RAI1 METTL27 BCL11A SALL4 TBL2 SCARF2 LIMK1 CLDN3 TFAP2B RAB3GAP2 PITX2 BAZ1B FBXO11 WDR26 MDH1 EDAR AP4B1 RIN2 EDA ADAMTS2 KCNMA1 PHGDH AXIN2 SMS FRMD4A MAN1B1 HSPG2 KCNK4 SMG9 CDKL5 SNRPN ERCC6 NRAS SPECC1L LIPN DOCK7 IGF1R GTF2IRD2 WDR19 QRICH1 MED13L MED12L ERCC5 IFT122 NCF1 ATRX TBC1D24 KIFBP CREBBP RFC2 KCNH1 FKBP6 AP4M1 WNT10B CYP4F22 CLIC2 CLDN4 DNAJC30 VPS37D POMGNT1 FGD1 MLXIPL MECP2 HRAS CUL7 RAB3GAP1 EDA2R REV3L TMEM270 ANTXR1 BCL7B FOXG1 OCRL SETD1A CHN1 GBA ADNP HP_TONGUE_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TONGUE_ATROPHY NOP56 NEFL KY MORC2 FRG1 SLC52A3 SH3TC2 EXOSC3 GSN PANK2 HP_DECREASED_CIRCULATING_LEVEL_OF_SPECIFIC_ANTIBODY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_LEVEL_OF_SPECIFIC_ANTIBODY ICOS PRKCD TNFRSF13B RIPK1 COG6 CD19 CD247 CR2 SLC35C1 CTPS1 KNSTRN ZAP70 IRF2BP2 RAC2 RASGRP1 MAGT1 FASLG TNFRSF13C CARD11 PIK3CD CARMIL2 LRBA CD70 CD81 FAS CASP10 CASP8 ADA WAS ALG12 IL2RA HP_DECREASED_SPECIFIC_PNEUMOCOCCAL_ANTIBODY_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SPECIFIC_PNEUMOCOCCAL_ANTIBODY_LEVEL CTPS1 ZAP70 CD81 CR2 PIK3CD HP_ABNORMAL_CEREBRAL_VEIN_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CEREBRAL_VEIN_MORPHOLOGY RASA1 PLCB4 EDN1 EPHB4 ALX4 GNAI3 MSX2 HP_ABNORMAL_DENSE_GRANULES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DENSE_GRANULES RUNX1 HPS3 IKZF5 LYST AP3B1 BLOC1S5 HP_PANNICULITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANNICULITIS PRKCD MYSM1 RNASEH2C KIF11 RASGRP1 FASLG IFIH1 PSMB4 PSMB9 SAMHD1 MEFV HAVCR2 PSMG2 FAS RNASEH2B RNASEH2A ADAR CASP10 TREX1 LCK PSMB8 ADA2 OTULIN HP_DESCENDING_AORTIC_DISSECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DESCENDING_AORTIC_DISSECTION MYLK SMAD3 TGFB3 COL3A1 SMAD2 TGFBR2 PRKG1 MFAP5 ACTA2 FBN1 FOXE3 MYH11 LOX TGFBR1 MAT2A ELN HEY2 TGFB2 SMAD4 HP_ABNORMALITY_OF_THE_BRAINSTEM_WHITE_MATTER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_BRAINSTEM_WHITE_MATTER LMNB1 SACS TMEM216 LAMA1 INPP5E TMEM67 KIAA0586 CEP290 FLI1 ARL3 CSPP1 NPHP1 ABCD1 CYP27A1 AHI1 HP_ABNORMALITY_OF_THE_PITUITARY_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PITUITARY_GLAND SIX3 HBB IARS2 ALX3 ARNT2 HERC2 SEMA3A FMR1 EIF2S3 PTCH1 FGFR1 CDKN2B SOX3 HESX1 GNAS GPR101 TP53 ANOS1 C14orf39 DLL1 TDGF1 FGF8 NR5A1 GLI2 ROBO1 ZIC2 PIK3CA TGFBR2 MSTO1 PMS2 STX16 PRKAR1A TP63 POMC AIP FLNB IRS4 SIN3A KIAA0753 TSHB MLH3 POU1F1 SLC16A2 RBM28 DNAJB11 DCAF17 MSH2 FOXH1 DMRT3 MCM4 FIGLA NKX2-1 PDGFB KATNIP TACR3 PROKR2 CCDC141 NANOS1 CDON BNC1 SLC35A2 BAP1 FANCM SEMA4A TSC1 NDN SHH WDR4 ERCC6 CDH23 LHX3 TSC2 MADD ALMS1 RFWD3 ZSWIM6 HFM1 SRD5A3 WWOX PRLR FOXL2 DHX37 FOXA2 POLE FSHR NODAL TGIF1 MT-TL1 LHX4 NFKB2 CDKN1B DISP1 PROK2 SNRPN KLHL10 SYCP3 CHD7 WFS1 PSMC3IP ADNP BRCC3 PAX8 CYP11A1 IYD FANCI GMNN SLC5A5 COG2 DYRK1A TSHR KISS1R DMPK MCM8 HSD17B4 GHRHR YY1 MAGEL2 TBCE ZFPM2 VPS13B OTX2 GLI3 FLRT3 SRPX2 PROP1 IDH1 CTNNB1 SOX2 AFF4 MEN1 ESR1 STIL TDRD9 SRP54 BTK SOHLH1 KANSL1 SNORD116-1 CPE PSMB8 SMO GDF9 PMM2 TBX19 APC TRAPPC11 AR TAF4B RRM2B POLR3GL TBCK SOX9 PWRN1 WT1 PUF60 MTHFR FAN1 SPIDR SLC29A3 MKRN3 ALG9 PWAR1 ADAT3 CYP17A1 ESCO2 SYCE1 GHSR HPGD CDKN2C MAP3K1 NR0B1 CDKN1A SRY FEZF1 TPO TEX11 CEP57 SPRY4 LEPR SUFU SIM1 GATA4 DMXL2 THOC2 BMPR1A GAS1 MLH1 HS6ST1 SLCO2A1 DHH CFTR KRAS KMT2A RNPC3 NUP107 TBX3 GRM7 STAT5B LEP GAN AKT1 TEX14 FGD1 FSHB POLA1 GPR161 BMP4 PITX2 WDR11 RRAS2 SBDS VANGL2 TMEM67 GANAB VAMP7 SOX10 SEMA3E APOA5 BRAF ZNF148 NSMCE2 USP8 ERF DUSP6 LARS2 TBX2 STAG2 ACP5 CBX2 MEIOB EDA FARSA ZMYND15 FGF17 TMCO1 RPS20 DUOX2 CYB5A MARS2 NONO TRAF7 OCA2 DNAJC21 MRPS22 SLC7A7 B3GLCT EFL1 IGF2 HSD3B2 PDE4D STAG3 GH1 SMC1A GATA6 SMARCAL1 CNBP PKD1 ABCD1 FANCF SMARCB1 POLR3H IL17RD DCC MSH6 ADGRG1 THRB AAAS PNPLA6 TG NF2 SMARCE1 MT-ATP8 PREPL EPCAM SECISBP2 WASHC5 SIX6 TERT XRCC2 NDNF POLR3A PKD2 TEX15 BICC1 AVP PMS1 PI4KA DUOXA2 MED12 ESR2 BMP15 TRHR IGSF1 POU3F4 POR NPAP1 CFAP47 NDE1 EDA2R IDH2 PPP2R3C CDKN1C PDGFRB LHCGR GMPPA TBL1X SNORD115-1 PCSK1 HP_ABNORMAL_SIZE_OF_PITUITARY_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SIZE_OF_PITUITARY_GLAND TRAF7 SIM1 PDGFB GHSR BAP1 TERT CTNNB1 FGF8 COG2 KIAA0753 NFKB2 PIK3CA NF2 SMARCE1 SUFU NDE1 CDH23 MAGEL2 SMARCB1 HS6ST1 MED12 BRAF SMO AKT1 HP_SMALL_PITUITARY_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_PITUITARY_GLAND COG2 SIM1 NDE1 FGF8 MED12 GHSR MAGEL2 KIAA0753 HS6ST1 HP_METAMORPHOPSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAMORPHOPSIA BEST1 SF3B1 CACNA1A SCN1A ENPP1 BAP1 ABCC6 ATP1A2 CFI PRPH2 CYSLTR2 GNAQ PRRT2 CRX CFH EFEMP1 GNA11 HP_EXTRA_AXIAL_CEREBROSPINAL_FLUID_ACCUMULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXTRA_AXIAL_CEREBROSPINAL_FLUID_ACCUMULATION LMNB1 MADD PPP1R21 LMNB2 TET3 TBCK HP_TEMPORAL_OPTIC_DISC_PALLOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TEMPORAL_OPTIC_DISC_PALLOR OPA1 CYP1B1 MAG DNM1L MYOC HP_DIFFUSE_OPTIC_DISC_PALLOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFUSE_OPTIC_DISC_PALLOR DPAGT1 COL4A1 ZNF408 C1QTNF5 MMP19 B3GALT6 TUB POMGNT1 SCAPER COL18A1 HP_UPPER_LIMB_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_LIMB_PAIN B2M FLI1 KRT14 KRT5 COMP SMAD6 MFN2 HP_LOWER_LIMB_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_PAIN MME B2M KRT14 COL2A1 MATN3 COL9A2 KRT5 COL9A3 NLRP12 ACP5 TRAPPC2 MT-TK KRT6B ALDH18A1 TGFB1 PRKRA MT-ATP6 ERLIN1 MFN2 SLCO2A1 COL9A1 RASA1 COMP KRT16 BSCL2 FAR1 KRT17 SPG7 HEPHL1 TONSL LMX1B KRT6A HP_HIP_FLEXOR_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIP_FLEXOR_WEAKNESS FLNC RAPSN MYOT CHRNB1 AK9 LRP4 CHRND AGRN CHRNE SCN4A GNE COL13A1 DOK7 CHRNA1 MUSK HP_ABNORMAL_CIRCLE_OF_WILLIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCLE_OF_WILLIS_MORPHOLOGY TGFBR3 ENG COL3A1 THSD1 ANGPTL6 HP_DILATION_OF_VIRCHOW_ROBIN_SPACES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DILATION_OF_VIRCHOW_ROBIN_SPACES PAFAH1B1 ODC1 RPL10 NGLY1 HTRA1 DCX SIAH1 HP_SPIDER_HEMANGIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPIDER_HEMANGIOMA SLC37A4 GPR35 MST1 TCF4 SEMA4D HP_ORAL_AVERSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORAL_AVERSION SMARCB1 SMARCD1 SOX4 ARID2 DPF2 SMARCC2 ARID1B ACAT1 SMARCE1 SLC7A7 PACS1 SOX11 ARID1A SMARCA4 HP_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAIN MME PPARG SF3B1 SDHD TRPS1 COL1A1 LEMD3 PPARGC1A FLI1 TAF15 CLCN5 HPGD PTPN22 TGFB1 DDRGK1 CPA1 AGXT CDKN2B SDHC ERBB2 GNAS SVIL CRLF1 MT-TK TP53 NTRK1 HARS1 SMAD4 CBL CHEK2 TNXB SERPINF2 MATN3 HPS1 PIK3CA FAS MSTO1 STX16 TGFBI SEC63 MEFV MATR3 SPTLC2 TBK1 POLG2 HGD TREX1 DNAJB11 MSH2 CARS2 MYH7 BCOR SLC2A9 LMNA ANXA11 VCP TNFRSF11A SLC34A1 PTPRO MYLK ASPN PHKG2 ENG SRP54 SEMA3C PSTPIP1 DMD DOLK CYP27B1 TREM2 MAGI2 SEMA4A STAT6 APC MPL CPOX STAR MIEF2 DLEC1 BRCA1 PHEX SCNN1B EXT1 UBQLN2 AMPD3 DYSF MAX LRP1 NCF1 MRAP ERCC4 ACAD9 MT-TE PPOX CDKN1B COL9A3 RRM2B ERAP1 WT1 INF2 POU6F2 BVES COL9A1 MYBPC3 NKX2-5 HLA-DRB1 BCL7B PTEN PML ACTG2 NFKB1 PIGA MDH2 NFKB2 SMAD6 COMT GYPC CPT2 EPB41 IL23R FLT1 PTPN11 DCC NPHS1 DMPK LDHA F5 IL1RN FKRP SPINK1 ELN TNFRSF1A ANO5 HEPHL1 TCIRG1 EIF4H CAV3 LPIN1 UNC13A TRIP13 GHSR CLCN1 CFTR HNRNPA1 CASR SLC34A3 LDLRAP1 FOXE1 DNM1L PSMB9 PIGT SLCO2A1 KIF1B BUD23 NLRP3 DEPDC5 PLEKHM1 OPA1 HIRA LPIN2 MIF PSMB8 CLDN3 MDM4 PTPN2 TBX1 NUP205 PON2 AMPD1 IL10 BAP1 PHKA1 SMO JAK2 CCN2 POLR3GL CCND1 CDC73 MESP2 VDR IL6 SLC25A4 ERBB4 TNNC1 PRKAR1A CHST6 SPTA1 FH ATP7A SREBF1 CDKN2C KY MTTP UNC45A CDKN1A FGF13 EDN3 SPAST COL2A1 CFI COX6B1 HFE CAV1 POMP SCN4A CDH23 TMEM270 STIM1 BCL10 NF1 ABCB4 ASXL1 TRAPPC11 NUP133 MLH1 UBAC2 RNASEH1 TRAPPC2 FLVCR1 PRSS1 PYGM KIT OVOL2 PRSS2 ICOS CD81 OPLAH PRKCSH HEXB WNT1 C4A AKT1 STAT4 GLA TARDBP HADHA VAPB SERPING1 GNPTG TMEM127 TEK SQSTM1 TNFSF11 GBA SLC40A1 RARA CYP2R1 NUP85 RET TRPV4 ECE1 METTL27 MYF6 FSHR MAFB FTL TLR4 FHL1 CLCN7 COMP COL10A1 COL17A1 RBCK1 CD19 SH3TC2 TSC1 STING1 ACP5 SLC34A2 HMBS ATRX CAT LOX GNA11 DPM3 RPS20 XPA GUCY2C POLG COL11A2 CDH2 MVK B2M TRAF7 ATP7B MMP1 SYNE2 MCM6 RFC2 RB1 NOD2 FUS XPC DDIT3 IKZF1 ZNF687 USP8 PSMB4 CTRC DDB2 SPTB SCN1B SOX10 NOS1 NPRL2 FN1 NEK1 SCARB2 NUMA1 VANGL1 KRT17 HADHB ALDOB CD247 TGFBR2 ENPP1 PRTN3 CLCNKB NGLY1 ORAI1 SI FMR1 RIPK1 MET HLA-B CLIP2 MT-ATP6 DGUOK ABCG8 WAS ABHD11 PKD1 TET2 ABCD1 LPL ELANE APOL1 MYH3 SCNN1G COL14A1 FDX2 MSH6 HLA-DQA1 SEPTIN9 FKTN TBX18 CR2 DNAL4 COL3A1 MBTPS2 F8 STX1A CRB2 BMP2 CORIN BTNL2 NRTN PRKRA NUP107 COL5A1 TGFBR1 CCR6 EPCAM TRPC6 BSCL2 TRPA1 RNF6 PNPLA2 SPP1 CTNNB1 PLCG2 LACC1 PIGY SMAD2 KRT5 CTNS PRKG1 PKD2 BICC1 TNFSF12 IL12A PLN WIPF1 DNM2 CASQ1 UFD1 PMS1 THPO LDLR ERCC3 HBB MAT2A PRNP VWA1 REST GLT8D1 AP2S1 GTF2IRD2 CHCHD10 GP1BB GNE ALDOA SDHA SMAD3 VHL REEP2 COL7A1 PRPH ERBB3 VPS37D ARHGAP24 CEL IDH2 MMUT HABP2 MYH11 STAT3 SPG7 MEF2A KRT6A SLC4A1 RAD51 GTF2I GNB2 MYO1E HLA-DPA1 KRT6B TNFRSF13B NDUFAF6 HOGA1 CHMP2B GPR101 NR1H4 CAPN3 CCR1 FAR1 GDNF FIP1L1 TGFB2 SPTBN1 NPRL3 P4HA2 EWSR1 PMS2 TRIM28 DMP1 BMPR1A ABCG5 ZNF469 SDHB ALDH18A1 VSX1 MFN2 PMP22 SCN9A AIP ERLIN1 MLH3 ENO3 LBR CHST3 SFRP4 TBL2 COPA HEY2 PDGFB ATP8B1 RNU4ATAC ANG MT-TL1 HSPG2 PORCN SAA1 ACADVL TBC1D8B RELA ALMS1 PALLD POMT1 RYR1 CFH MLYCD APRT HS3ST6 SLC25A26 WNT3A TBX6 ACADM COL4A5 DNAJC30 ABCA1 DNMT3A SLC26A2 TYMP COL5A2 MMP2 SRSF2 UBA1 OPA3 MTMR14 ARHGDIA C1S RNF168 PTH1R SEC24C LMX1B HLA-DQB1 CDKN2A BRCA2 LMNB2 DNA2 JMJD1C NAB2 ACTN4 ERCC5 ANKH KIF7 BIRC3 DBH PHKA2 TMEM43 G6PD CD244 CIITA CYSLTR2 NOTCH2 IRF5 DAAM2 COL9A2 CD2AP RUNX1 NPHS2 ATXN3 IDH1 ZBTB16 FGF23 GNAQ SLC22A12 STK11 IRAK1 ACTA2 CASK DKK1 ESR1 CRPPA MINPP1 F12 COQ7 PFN1 KRT14 SLC22A4 ABCC6 ZEB1 TSC2 MALT1 HPDL ABCC2 TREH CCN6 EHHADH GNA14 ABCB11 PON3 STAT5B FAN1 OPTN TONSL ALG9 MS4A1 ZFTA EPAS1 CTSK CCDC78 ARVCF MYC KCNN4 PSAP PIEZO1 SLC25A11 ANKFY1 PRDM5 PGK1 SDHAF2 PTPN3 RREB1 SPTLC1 COQ8B KRAS CTLA4 PALB2 EXT2 TENT5A GFI1 GRHL2 GTF2IRD1 NUP37 SCN5A POLE FBN1 NTN1 FOXE3 TYROBP CFAP410 LRP5 CA2 APOB KLRC4 NUP160 PKHD1 EPOR OTULIN PCSK9 ALAD TGFB3 EPB42 NLRP12 ANLN HELLPAR NABP1 MYOT DNASE1L3 GPR35 SLC39A14 LMNB1 COL4A3 RASA1 SNX10 SYK GANAB PDGFRA MLX SCNN1A TNFRSF11B PGAM2 PAX2 TCF4 ANK1 PON1 ANKRD55 NLRC4 GAPVD1 SH2B3 PKDCC SLC12A3 MC2R TBL1XR1 DLST GLE1 ZMPSTE24 ATL3 COL4A6 ALDH4A1 IL12A-AS1 ADA2 DLL3 HLA-DPB1 ERCC2 UFSP2 SEMA4D MFAP5 GATM SUFU EMP2 TK2 IRF2BP2 NNT COL8A2 PLCE1 KDELR2 NFKBIL1 EDNRB GCGR CNBP BIN1 CALR NUP93 CLDN16 SMARCB1 DAXX AAGAB ATXN2 C9orf72 SYNE1 IL2RB IL2RA RABL3 TXNRD2 HTRA1 LAT2 SEMA3D FIG4 MITF DSE TRIM32 FERMT3 STOX1 NF2 MSMO1 SMARCE1 TRPM4 IL12B CAVIN1 CYP19A1 CD55 TWNK NPM1 HNRNPA2B1 CCNF LIMK1 FLNC BAZ1B DCTN1 TERT POLR3A ATL1 TMEM126B SOD1 SCN11A MST1 COL11A1 TNFRSF13C H19 EPHA4 FOXP1 DAO FKBP6 NEFH MEN1 CLDN4 DIS3L2 PRKCD MYL2 MLXIPL CARD8 ASAH1 KRT16 WWOX GPC3 EMD CD46 HP_CHRONIC_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_PAIN FLVCR1 TGFB2 COL7A1 MMP1 ATXN3 HP_DYSESTHESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSESTHESIA ABCD1 SDHA RELA SPTLC2 GRIN2A SCN10A PRNP FMR1 SRPX2 ALDH4A1 NLRP3 CHST14 DKK1 PMP22 DSE ZFTA GABRG2 HP_FOOD_INTOLERANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOOD_INTOLERANCE MLXIPL SRCAP UNC45A ALG3 ELN COG8 ASXL1 GALT HP_NON_HODGKIN_LYMPHOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NON_HODGKIN_LYMPHOMA PRKCD NBN PIK3R1 MALT1 CD28 FCHO1 POLE NTHL1 TNFRSF1B RASGRP1 TP53 CCND1 SH2D1A CHEK2 CTLA4 MAGT1 FASLG SMARCAL1 BIRC3 ITK CDKN2A FAS MDM2 SYK MYC CASP10 XIAP ATM ADA BCL10 IKZF3 PMS2 RHOH MLH1 MSH6 FOXP1 HP_CEPHALOHEMATOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEPHALOHEMATOMA ITGA2B ITGA2 F2 ITGB3 F8 GP1BA GP1BB CD109 HP_ABNORMAL_INVOLUNTARY_EYE_MOVEMENTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_INVOLUNTARY_EYE_MOVEMENTS CCDC32 MECR CACNA1A CEP290 ADGRG1 SEMA3A CRB1 ERCC8 PTPN22 DPM1 ADGRV1 ABHD5 NDP TCTN3 GRID2 WDFY3 OPA1 MBTPS2 SH3TC2 TSPAN7 MPZ CDH3 CEP41 HMX1 FGF14 TYRP1 CACNA1B ANKRD11 LCA5 CBL NKX6-2 SPEN ATXN10 PAX6 PUS3 XYLT2 STX16 RPE65 MT-ND1 SIN3A PEX12 SOS2 IFT140 VLDLR SAMHD1 ATXN7 ITPR1 FGF8 MT-ND4 INPP5E KCNMA1 SOS1 GABRB2 IDH3A SAG MAP2K2 ANO10 NTRK2 TWNK SNRPN MT-ND2 TRAK1 PROKR2 HUWE1 TBP NRAS CACNA1F USP7 PRKCZ TOPORS PEX6 GUCA1B SALL4 TYR VPS41 PLP1 GMPPB NAGA IFT88 ABCB7 MYO5A USP45 TACO1 ERCC2 PAX2 PDE6C NCF1 TMEM237 FOXL2 ELOVL4 PMP22 NDUFV2 ATCAY RNASEH2C PROK2 SOX3 CFAP410 LMNB1 UBA5 CHN1 JARID2 TBL1XR1 SLC2A1 DNM1 AHI1 ARL3 ZMIZ1 NEU1 PLA2G6 PGAP1 FBXL4 GRK1 PRNP PET100 GBA ELN SACS SLC38A8 PDE6G CACNA2D4 TANGO2 EIF4H NDUFA12 PACS1 SLC33A1 NDUFS3 SRPX2 WFS1 CYFIP2 NUP62 LYST WDR48 DNM1L MED27 TULP1 GRIN2A BRD4 AARS1 DHX38 SCN3A CISD2 TPP1 CLDN3 SPTBN4 CLDN11 RHO HSPG2 TIMMDC1 EXOSC3 WWOX SDCCAG8 SMPD1 PDE6B NAA10 TUBGCP6 AIMP1 SDHB CASK CNNM4 CNGB3 GPR179 SUFU ARHGEF2 YARS2 TUB PPP3CA FOXC1 TOE1 PLEKHG2 SYT14 GBA2 VPS13B RBP3 LAMA1 TMEM270 SLC29A3 SATB1 MN1 OPA3 DPP6 B9D1 NMNAT1 RAD51C PTCD3 REPS1 KIF11 RIT1 HS6ST1 CA4 ATP1A3 SPTBN2 POU4F1 BBS12 SIGMAR1 GUCY2D TBC1D24 ADAR TCIRG1 NFIX IBA57 NDUFS1 ATOH7 TMEM216 SLX4 LRAT BMP4 HPDL PRKCG IFT43 ISCA2 BBS5 FGFR1 IMPDH1 CEP104 MC1R MAG RPGR RNF113A METTL27 PRPS1 SOX10 HARS1 ARID1B CLDN19 CLCN7 NALCN PRX CRYGD PSMD12 TTC19 HS2ST1 HCN1 UBE3B PEX5 PUS7 GABRB3 TUBGCP4 NADK2 P4HTM MPDU1 PDP1 PIGS PDE6D PRPH2 NT5C2 TFAP2A POLR3A WDR19 RLIM RFC2 AP3B1 ATXN2 SCAPER UBE2T B3GLCT FGF13 MTRFR KCNA2 FOXP1 IFT172 PEX10 IFT122 ALG3 CPLANE1 ATP1A2 NEFL SQSTM1 PIGG AARS2 STUB1 SCN1A NDUFS2 DHX37 KIF5A KCNJ13 KCNB1 CNGA3 CLIP2 AP3D1 MRPS34 SCUBE3 SCN8A ATG5 SLC6A6 GJC2 COX10 SNAP25 OPHN1 PIGT LETM1 PHGDH SLC4A11 BDNF HESX1 ATP6V1E1 PEX26 TRIP12 HGSNAT WDPCP HSPD1 MOCS2 GRIA4 COQ2 SLC35A2 SCO2 FANCL ACO2 KATNIP TCTN2 SDHA LRMDA ATXN8OS BEST1 ERCC6 PYCR2 SLC24A5 SURF1 TMEM67 NDUFAF5 CLTCL1 DHDDS VWA3B SLC1A3 DPYSL5 NDNF POLR3B B4GALNT1 ATAD3A SLC9A1 PEX7 ARX TINF2 MT-ND3 DDX6 SLC12A6 NDUFS6 CRYBB2 SYNGAP1 SMC3 LZTR1 GALNT2 FGF12 ALS2 SMC1A MT-ND6 ESCO2 TTC8 BRAT1 POU3F4 NUS1 NDUFB8 CTDP1 TUFM SZT2 NPHP1 SLC25A20 FANCD2 WDR35 GFER SLC25A24 ATXN3 KLC2 PROM1 MRE11 KMT2E GTF2I BUB1B KRAS ARL6 TTR AP4E1 UROC1 EXOSC2 NYX TNFRSF11A DDB1 GPR143 SYNJ1 SPG11 PEX3 CLPB IDH3B CRYAA P4HA2 RAB18 DARS1 NAXE ALDH18A1 PRKD1 SLC16A2 MPV17 GNAT2 CLTC RFWD3 ZNF423 RGR GNAS LRP5 PRPF31 GABRA2 OTUD5 TACR3 GAN CACNA1E CCDC141 CRX BPTF RERE PEX16 PTPN23 SLC45A2 IGBP1 PDZD7 FMR1 CACNA1H SPATA5 PIGN ZFYVE26 MKS1 UNC80 RNASET2 LIPT1 SLC19A3 FOXRED1 FAT2 REEP6 CEP120 CACNB4 DNAJC30 ELOVL5 MAB21L2 SYT2 BCORL1 TAT ATF6 PEX2 NARS2 ACTL6B CHD7 PNPT1 ANTXR1 AGO2 CLCN6 RARS1 NOTCH2NLC RECQL4 ATXN1 LZTFL1 ERCC5 CWF19L1 KIAA0586 BEAN1 CRYBA4 PSAT1 ERCC1 NUBPL WASF1 GPAA1 PMPCA TMEM240 SLC35A1 FANCA BRAF DPAGT1 DHCR7 UBE4B GABRG2 FRMPD4 PIBF1 FDXR TCF20 CREBBP SLC17A5 MTRR GJB1 KAT8 SLC18A3 KCND3 TUBB4A UBE3A PLAA GTF2E2 MICOS13 TKFC ALX4 PRPF6 USP8 FANCF JRK CSPP1 SLC52A2 RDH12 ZNF292 ALG13 PSAP RUBCN FEZF1 KIAA0753 RP2 PRDX1 NOP56 ATN1 TRAPPC4 BBS2 POMGNT1 SLC5A7 HPS6 SPRY4 AFG3L2 MADD RORA THOC2 CC2D2A CNOT3 HTT MAFB RPIA GTF2IRD1 KIF7 DKK1 NDUFS7 NTNG1 UBAP1 MTHFR TENM3 LONP1 PRPF3 SLC12A2 CCDC28B XRCC1 SDHD NDUFA2 SNX10 NR2E3 MTFMT DCX KARS1 DUSP6 XRCC2 CABP4 TTBK2 FGF17 NDUFA1 HLA-DRB1 WT1 ADAMTSL4 HK1 APTX FANCC NDUFA6 NDUFB10 DTNBP1 APC AGBL5 SALL2 RNU4ATAC OPN1SW MKKS ATP13A2 LRP4 ADD3 WHRN SLC7A14 MAD2L2 HSD17B10 AP3B2 TAF2 PEX19 SAMD9L MTPAP EEF2 SNIP1 CLDN16 GNB1 TMEM231 PEX1 NDUFA9 MAN2B1 PURA LAT2 PHYH MINPP1 ABCA4 FLRT1 NRL GLRX5 DEGS1 PLD3 MAP2K1 HLA-B CDHR1 HPS3 LIMK1 SLC19A2 NDUFA4 CACNA2D2 SPATA7 LAMB2 LIG4 CLRN1 CENPE ATP5F1A VAMP1 FOXE3 LARGE1 MAF KIF1A TRPM1 GRM1 RASA2 GDAP2 FANCG MT-TV NR2F1 DPYD OPN1MW GFM1 CRYGC CEP164 NDUFB3 BRIP1 GABRD TMEM126B FANCM PALB2 MME A2ML1 CTNNB1 GNB3 PCARE AGK BBS1 MMADHC SLC9A6 ANOS1 OFD1 PAX7 PPP2R5D MYO9A CDK19 DHCR24 SLC13A5 HPS1 IFRD1 IFIH1 CNKSR2 TUBB3 KIAA1549 TDP1 ERCC4 ERCC3 SLC25A46 TCTN1 BBS9 PDE6H CTBP1 NDUFAF3 IMPG2 SLC1A2 IQCB1 NANS ZNF699 PHIP SYNE1 COG4 FA2H OCA2 RRAS2 CLP1 DNMBP ATP6V1A KCNV2 SLC25A1 RFC1 NDUFS8 RPGRIP1L BCL7B ATM ROM1 PPP1R21 NTNG2 PDGFRB MT-ND5 BRCA2 MPLKIP HSD17B4 SIL1 NSD1 CHAT USH2A KIF1C GALC MPC1 KIDINS220 FLRT3 PACS2 SERPINI1 SVBP RRAS TANC2 NHS MT-TK CNGA1 FSCN2 TARS1 BUD23 NDUFA13 RPGRIP1 OSTM1 DGUOK CYP1B1 FRMD7 SLC39A8 EEF1A2 PNPLA6 FANCB CRYBB1 STXBP1 KIZ RLBP1 SCN2A PEX11B ADPRS GMPPA TMEM126A NDUFS4 ERMARD MAB21L1 PHF6 CFAP418 DOCK3 EXTL3 PIK3R5 GRIN2D SPAST MRPL12 TRIM44 ALG2 BRCA1 TRIM32 SLC6A19 CEP19 PDPN ECHS1 HMGB3 HIBCH AHDC1 STX3 ARL2BP ARMC9 MT-ATP6 PHF21A RAF1 EIF2S3 OCLN EDNRB ADSL YAP1 EYS TELO2 NELFA PCYT2 ADORA2A TNFSF11 BLOC1S3 GDF6 MARS2 L2HGDH PRCD OPN1LW BBS7 MYO7A FASTKD2 CELF2 PEX14 HECW2 CACNA1G ACBD5 GNAT1 TRAPPC6B EPG5 SON AIPL1 NDUFAF2 MT-TW POC1B IQSEC2 KCNC3 RP9 LUZP1 SRD5A3 AGTPBP1 ACTL6A ARV1 MAPK8IP3 ANK1 TAF1 EBP PIGQ NDUFAF4 NDUFV1 ROBO3 RAD51 TET3 OGT PEX13 NDUFAF1 PDHA1 DCT RAB11B VPS13D FANCE ABHD11 ALG8 MMACHC RNASEH2A KDM6A DARS2 ACOX1 DCC SYT1 FDX2 FANCI NDUFAF6 DLAT STX1A SETX PRPF8 GABRA5 NDUFA10 PCYT1A GRM6 WARS2 BLOC1S6 NDUFAF8 OTX2 ALMS1 VPS33A GDF3 MED13 SNRNP200 MRAS PI4KA WDR11 YWHAG NEK2 AHR HPS5 GTF2IRD2 DNMT1 CLTRN RP1L1 SOST VPS37D GABRA1 OXR1 GM2A SNX14 SPG7 CAV1 FUS TREX1 EXT2 HDAC8 IARS2 ARNT2 NDUFB11 FBN1 MMP23B FAR1 GCH1 CRIPT PNPO FCSK RTN4IP1 ALG1 ARL13B COQ5 POLG TBL2 EP300 CBY1 CLN5 CARS1 KIF2A UBR7 KCNK4 CYP7B1 PPP1CB COL13A1 DNAJC12 FGFRL1 CPLX1 GATA3 COL18A1 EPRS1 CNGB1 ARHGEF18 SEMA4A KDM4B NDUFB9 CAPN1 BBIP1 DAB1 OCRL EGR2 GTF2H5 RAD21 PTPN11 TMEM138 SREBF1 RD3 RNF216 SDHAF1 EFNB1 TTPA NIPBL KMT2D SLC25A4 MAK COX15 NSUN2 SOX2 NPHP4 IFT52 SETD2 JAM2 PARS2 TBCD PORCN KLHL7 LIM2 KRT14 PIGU GNB5 TBCK XRCC4 FRRS1L RNU12 TONSL IRF2BPL PRPF4 PMM2 UCHL1 SRY FAM161A INPP5K TRMT1 BLOC1S5 BBS4 FBXW11 PRRT2 NSD2 TENT5A MYT1L ERLIN2 PITX2 WDR73 BCOR EXOSC9 MVK PDE6A HYLS1 IFT27 RIMS2 APC2 POLR3K HPS4 KANK1 EMC10 NECAP1 SLC6A3 SEMA3E LYRM7 GJA1 IFT74 ATP6V1B2 NDUFA11 CHMP1A TMEM63A RNASEH2B RHOA AFF3 FXN ZNF408 RP1 FAM149B1 MOCS1 CERKL PRSS12 CYP27A1 SLC5A6 PALS1 KDELR2 MCOLN1 FUZ IL17RD TRAF3IP1 KRT5 NCAPG2 HTRA1 KCNAB2 ATP2B3 TMEM106B AGRN LRIT3 GJA8 ZNF513 SKI KIF1B BAZ1B ABHD12 SIX6 UGP2 MT-TL1 ASPA MERTK L1CAM CASZ1 PRDM16 COL11A1 YARS1 AIFM1 THG1L CEP78 FKBP6 CLDN4 MLXIPL PLK4 HIKESHI DALRD3 TNRC6B ASAH1 LAGE3 CP MTR BBS10 SLC24A1 HP_FATTY_REPLACEMENT_OF_SKELETAL_MUSCLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FATTY_REPLACEMENT_OF_SKELETAL_MUSCLE FKTN HNRNPA1 FXR1 MYOT GIPC1 DNAJB6 NEB POPDC3 CRPPA VCP PNPLA2 FKRP MYH14 HNRNPA2B1 ITGA7 GNE ANO5 FLAD1 POMT1 HP_ABSENT_THUMBNAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_THUMBNAIL PNKP DMXL2 GNAO1 SCN1B KCNA1 TRIM8 PIGQ PIGP CDKL5 NEUROD2 ATP6V1B2 STXBP1 CASK SLC25A22 ARX SIK1 SCN2A HP_DELAYED_MENARCHE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_MENARCHE SLC25A13 FSHB PTPN11 STUB1 GHR LMNA ALMS1 DNM1L ZMPSTE24 HP_ABNORMAL_NEPHRON_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NEPHRON_MORPHOLOGY WT1 COQ2 SDHD NUP133 AVIL GTF2I NPHP1 WDR73 C3 CFHR3 MT-TS1 CFH UBAC2 NOS1AP KCNJ1 MYO1E NUP107 HLA-DPA1 SLC12A1 GTF2IRD1 NUP37 HNF1B SLC37A4 MT-ND6 CLCN5 TREX1 MUC1 VHL NPHP3 C4A LAMB3 KIRREL1 COL4A3 MT-TK MEFV CCR1 CA2 KLRC4 GLIS2 FOXP3 NPHP4 APOL1 NUP160 FAS LAMB2 APOE LMX1B MT-ND3 PGM3 CTNS MT-TS2 PUS3 SGPL1 ANLN TPRKB TMEM127 SDHB MT-ND1 DNASE1L3 EMP2 CFHR5 FOXC2 C1QC CFI INF2 MT-ND4 NUP85 RET SOX18 ACSL4 COL4A4 SLC2A9 METTL27 TBL2 BCS1L TLR4 COPA MT-TH PAX2 PDSS2 AGT PTPRO GLA MT-ND2 SDHC RPGRIP1L C1QA MAGI2 MT-TL1 GAPVD1 MT-CO1 MRPS22 WDR19 TBC1D8B DLST MT-TW CEP83 ALMS1 STAT4 MME IL12A-AS1 LAMC2 NDUFAF3 FCGR2A HLA-DRB1 TRPC6 GATA3 MAX SPRY2 MMP1 C1QB IFT122 OSGEP NCF1 AGTR1 HLA-DPB1 RFC2 CRB2 ELP1 AMMECR1 MT-TE SLC7A7 DNAJC30 DNASE1 TP53RK DNMT3A ITGB4 LAMA3 DPH1 ERAP1 GBE1 REN NARS2 INVS BCL7B SLC12A3 ADA OCRL PRKCD MRPL3 TMEM67 ARHGDIA PLEC MDH2 PLCE1 FCGR2B CFHR2 PRTN3 CLCNKB SOCS1 MT-ND5 IL23R LMNB2 ITGA3 RASGRP1 CLIP2 SMARCAL1 ACTN4 NPHS1 WAS KCNE5 ABHD11 NUP93 FAH BSND MMACHC MT-ATP6 CPT2 ANTXR1 ELN CASP10 TRAF3IP1 SEC61A1 NDUFAF6 EIF4H MT-CO2 LAT2 NPHS2 DAAM2 STX1A CD2AP PBX1 NUP205 JAK1 BTNL2 JAG1 COQ8B SHPK HLA-B SLC22A12 ZAP70 FN1 SCO2 SCARB2 KIF1B BUD23 CD81 LPIN2 LIMK1 CLDN3 COQ6 MTX2 MTRR PMM2 BAZ1B LMNA MT-CO3 IL10 SLC30A9 IL12A WIPF1 DGKE VPS33A COL4A5 PTPN22 FAN1 XPNPEP3 NDUFS2 UMOD ACP5 GTF2IRD2 MT-TF EPAS1 SDHA ACE FH MT-TQ FKBP6 PKHD1 CLDN4 COL7A1 VPS37D CTLA4 FASLG NDUFB8 ARHGAP24 SLC25A11 MLXIPL MYOCD SURF1 MT-TV ANKFY1 SDHAF2 G6PC1 MMUT TMEM270 LAGE3 NF1 HP_MINIMAL_CHANGE_GLOMERULONEPHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MINIMAL_CHANGE_GLOMERULONEPHRITIS WT1 PLCE1 NUP133 NUP205 NUP107 DAAM2 CD2AP CRB2 NPHS2 MYO1E ANLN MAGI2 NUP37 ZAP70 EMP2 SMARCAL1 ARHGAP24 ACTN4 NPHS1 GAPVD1 LMX1B NUP93 ANKFY1 COL4A3 INF2 NUP85 KIRREL1 TRPC6 TBC1D8B APOL1 COQ8B LAGE3 ARHGDIA NUP160 PAX2 PTPRO HP_MACROSCOPIC_HEMATURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROSCOPIC_HEMATURIA ITGB3 ITGA2B GP9 F8 GP1BA CD81 GP1BB HPRT1 APRT HP_STEROID_RESISTANT_NEPHROTIC_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STEROID_RESISTANT_NEPHROTIC_SYNDROME NUP133 NUP93 AVIL KIRREL1 EMP2 DAAM2 NUP85 NUP160 NUP205 HP_ABNORMAL_URINARY_ELECTROLYTE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINARY_ELECTROLYTE_CONCENTRATION TENT5A CDC73 KDELR2 SLC34A1 GTF2I ENPP1 CYP11A1 NRAS SLC2A2 STAR KCNJ1 CLCNKB SLC12A1 ATP7B GTF2IRD1 ADCY10 GNA11 CLCN5 CLIP2 NDUFAF6 AMMECR1 MUC1 AVPR2 ABHD11 PKD1 OCRL KCNJ18 CDKN2B COA8 SCNN1A EGF CDKN1B BSND CLDN16 CYP11B2 PIGT ELN CYP11B1 CYP24A1 NNT EIF4H TXNRD2 GCM2 CASR MT-TN LAT2 MBTPS2 CTNS STX1A FGF23 BTNL2 DMP1 INSR SLC22A12 SLC34A3 HNF4A MLXIPL KCNJ10 BUD23 DNAJB11 SLC2A9 METTL27 GANAB KCNJ5 TBL2 MAGED2 CLDN19 LIMK1 CLDN3 KRAS SCNN1G BAZ1B GABRA3 MEN1 ABCC6 EHHADH HSD11B2 FXYD2 PKD2 BICC1 HNF1B SLC12A3 NR0B1 ATP6V0A4 MC2R FAM20A GNAS FCGR2A PTH1R AP2S1 GTF2IRD2 PHEX CFTR KCNJ16 ALG9 CLDN10 SURF1 CYP21A2 HLA-DRB1 CACNA1S IFT122 NCF1 MT-TS1 CDKN2C MRAP RFC2 FKBP6 TGFB1 ATP1A1 CLDN4 CDKN1A DNAJC30 GATM VPS37D SARS2 PIK3C2A HSD3B2 SCNN1B SLC9A3R1 CLCNKA HRAS TMEM270 BCL7B CDKN1C INPPL1 CNNM2 ALPL ALDOB HP_ALBUMINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ALBUMINURIA PDX1 IER3IP1 GALT STAT3 DNAJB11 INS MIA3 GANAB PKD2 BICC1 GCK PEX1 ALG9 ABCC8 KCNJ11 PKD1 HP_MODERATE_ALBUMINURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MODERATE_ALBUMINURIA PDX1 IER3IP1 GCK STAT3 INS MIA3 ABCC8 KCNJ11 HP_ABNORMAL_URINE_POTASSIUM_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_POTASSIUM_CONCENTRATION CLCNKB GABRA3 CACNA1S CYP11A1 CTNS KCNJ1 ATP1A1 SLC12A1 GATM NDUFAF6 EHHADH KCNJ18 SLC12A3 BSND CYP11B2 CLCNKA KCNJ10 SLC34A1 HP_ABNORMAL_URINE_PHOSPHATE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_PHOSPHATE_CONCENTRATION MT-TN CDC73 MEN1 ABCC6 CTNS MT-TS1 ENPP1 CLCN5 NRAS SLC2A2 EHHADH CASR FGF23 DMP1 ATP7B GATM SLC34A3 PHEX HNF4A NDUFAF6 OCRL SLC34A1 GCM2 COA8 SLC9A3R1 FAM20A HRAS GNAS PTH1R INPPL1 ALDOB SURF1 KRAS HP_ABNORMAL_URINE_SODIUM_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_SODIUM_CONCENTRATION CYP11A1 CLCNKB KCNJ10 BSND MC2R MRAP HSD11B2 STAR GATM NNT CLCNKA NDUFAF6 EHHADH AVPR2 TXNRD2 SLC34A1 HP_HYPERNATRIURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERNATRIURIA CYP11A1 CLCNKB NNT BSND MC2R MRAP CLCNKA AVPR2 STAR TXNRD2 HP_RENAL_SODIUM_WASTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_SODIUM_WASTING KCNJ10 GATM NDUFAF6 EHHADH SLC34A1 HP_ABNORMAL_URINE_MAGNESIUM_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_MAGNESIUM_CONCENTRATION ATP1A1 KCNJ10 SLC12A3 CASR GNA11 EGF CLDN19 IFT122 CNNM2 CLDN16 FXYD2 HP_HYPERMAGNESIURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERMAGNESIURIA CASR GNA11 EGF CLDN19 CNNM2 CLDN16 HP_ABNORMALITY_OF_URINARY_URIC_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_URINARY_URIC_ACID_CONCENTRATION PRPS1 SLC22A12 MOCS1 PNP HPRT1 HP_ABNORMAL_URINE_CYTOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_CYTOLOGY ITGA2B SDHD LMX1B HBB YAP1 CFHR2 GP1BA UMPS MYO1E PRTN3 CFHR3 GP1BB CFH ENG NOS1AP HLA-DPA1 LMNB2 F5 SREBF1 GBA PTPN22 SLC37A4 CLCN5 MMACHC KCNE5 PKD1 AGXT VHL HOGA1 CLDN19 COL4A3 CLDN16 ITGA6 TRAF3IP2 IL17RC LYZ FIP1L1 NOTCH2 SERPINF2 SPTBN1 STAT4 TRIM28 GLA F8 CTNS TRIP13 P4HA2 ZBTB16 TMEM127 SLC22A12 NABP1 ITGB3 F2 SDHB LMAN1 FN1 DNASE1L3 MCFD2 IRAK1 SMARCAL1 CD109 CFHR5 AGGF1 RARA TREX1 KIF1B SLITRK6 RET DNAJB11 ACSL4 CD81 NUP85 COL4A4 APOA1 HLA-B BCOR SLC2A9 GANAB KANK2 NPM1 LPIN2 ACVRL1 SPP1 CLEC7A CD2AP TSC1 SDHC TSC2 ACP5 C3 PKD2 BICC1 SLC34A2 NUP93 NUP133 HNF1B COL4A1 ADAMTS13 HLA-DRB1 COL4A5 FAN1 TBL1XR1 DLST HPRT1 WT1 STAT5B REST GP9 COL4A6 H19 ALG9 SMAD4 PRKAR1A APRT B2M EPAS1 GATA3 SDHA ITGB4 MAX SPRY2 CFI FH CD46 HLA-DPB1 IL17RA THBD AMMECR1 INF2 DIS3L2 DNMT3A SLC25A11 IL17F GDF2 PRDX1 SDHAF2 CFB POU6F2 GRHPR SCARB2 GPC3 CTLA4 ITGA2 NUMA1 OCRL FGA STAT3 PML IRF2BP2 BRCA2 F10 NF1 SLC5A1 HMOX1 MDH2 HP_CHRONIC_KIDNEY_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_KIDNEY_DISEASE WT1 NUP133 AVIL CEP290 CC2D2A NPHP1 CFHR3 CFH NOS1AP MYO1E NUP107 NUP37 CLCN5 DSTYK NDUFAF6 MUC1 SDCCAG8 NPHP3 PRPS1 CD151 DCDC2 COL4A3 HNF1B WDR19 NTRK1 PKHD1 MEFV GLIS2 NPHP4 APOL1 NUP160 LAMB2 LMX1B IFT43 CTNS PUS3 SGPL1 ANLN TPRKB CHRNA3 CFHR5 INF2 NUP85 DNAJB11 SOX18 TMEM67 COL4A4 SLC2A9 GANAB TTC21B CLDN19 PAX2 SLC34A1 PTPRO RPGRIP1L ACP5 MAGI2 TSC1 AHI1 GAPVD1 SAA1 PKDCC TSC2 TBC1D8B CLCNKB CEP83 TRAF3IP1 ALMS1 ZNF699 SLC37A4 COL4A6 TRPC6 APRT B2M GATA3 SLC7A7 SPRY2 MMP1 IFT122 OSGEP ALDOB AGXT COL4A5 GATM PPOX GSN TP53RK SRCAP CLCNKA EMP2 INVS PKD2 PRKCD ARHGDIA PIGA PLCE1 CFHR2 EIF2AK3 FLT1 ACTN4 NPHS1 PKD1 OCRL NUP93 SH2B1 IQCB1 CLDN16 TMEM231 SEC61A1 BSND MAPKBP1 NPHS2 DAAM2 CD2AP CRB2 IFT172 CORIN NUP205 JAG1 COQ8B SLC22A12 NOD2 SMARCAL1 STOX1 PYGM IFT140 CD81 FN1 BNC2 CEP164 GCDH BICC1 DGKE EHHADH DZIP1L TMEM126B FAN1 XPNPEP3 CPT2 ALG9 LDHA NEK8 LZTFL1 REN COL7A1 SARS2 ARHGAP24 MYOCD RAD51C ANKFY1 MMUT LAGE3 KYNU HP_ABNORMAL_INTRAOCULAR_PRESSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_INTRAOCULAR_PRESSURE HMX1 SF3B1 ASPH PRSS56 PXDN C1QTNF5 ZEB1 BAP1 GRHL2 ASB10 GNAQ COL2A1 VSX1 CHST14 SLC39A14 MYOC LOXL1 GNA11 OVOL2 CYP1B1 TEK ADAMTS17 FN1 PITX3 FOXE3 CYSLTR2 HLA-A COL18A1 LTBP2 COL8A2 DSE LMX1B HP_RETINAL_VEIN_OCCLUSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_VEIN_OCCLUSION CYP1B1 F12 SERPINC1 MYOC LOXL1 HP_ABNORMAL_INFLAMMATORY_RESPONSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_INFLAMMATORY_RESPONSE RNU4ATAC SLC25A15 RAG1 PIGA MGP ABCB1 NTRK1 CCDC47 NUP107 FLI1 LACC1 TPM3 ERCC8 KMT2D HPGD PTPN22 TAPBP KANSL1 LAMB3 FECH CARD9 MBTPS2 NCSTN NBEA MYH6 EGFR DNAL1 ANKRD11 MT-TS2 STX16 SIX3 TPP2 ZEB2 GJB2 IL2RG EMP2 SAMHD1 BACH2 GRHL3 CCDC65 BCOR NXN LMNA FGF8 BCS1L KDF1 CHST14 SREBF1 HACD1 CCDC39 SRP54 PSTPIP1 TP63 CCDC103 GLI2 C1R C1S PARN MME IKZF3 STAT3 AK2 ERCC2 GLIS3 CFAP300 HYAL1 DNAAF11 GAS8 NCF1 TBX20 NEK10 TGFB1 PCCA UROD KIT ERAP1 RNASEH2C SETBP1 TMC8 AEBP1 CCT5 INF2 CFAP410 SMARCA2 PTCH1 ALOXE3 ARID2 ORAI1 KRT1 SLC35C1 TK2 RSPH4A NPHS1 FAT4 CD247 PLG SRCAP UBB APC SPINK1 ARHGAP29 SLC30A2 SHOC2 GBA ELN ARID1B NODAL IL17RC TCIRG1 EIF4H TTC7A ABCA12 ITCH SNAP29 TP53 CFTR LYST FGFR3 ZNF750 DNAAF6 PSMB9 CD27 MEFV BRD4 APOE PSEN1 RAG2 GJC2 FOXJ1 HIRA AFF4 NHLRC1 MIF CLDN3 ATN1 NDUFS3 MDM4 CYP7A1 TBX1 IGHM NUP205 IL10 TBX4 SHH TBCD DZIP1L CDC73 FERMT1 BTK CLCN7 HAVCR2 DNAAF3 IRF5 FOXN1 PRKAR1A ADAT3 SPTA1 FBN1 MTTP STK36 POFUT1 RTL1 G6PC1 CDH23 ATL1 IL10RB FAS TMEM270 IRF9 BCL10 TGIF1 RFXAP IL2RA PTCD3 TRAPPC11 NUP133 CERS3 C3 CD19 PIK3CA ODAD2 ALDH3A2 DNMT3B SLC25A24 TAP1 CD3E HLA-DRB1 ICOS PIEZO1 CD79A CD81 PRF1 CYP11B1 C4A CSF2RB RFXANK MYL2 STAT4 UNG ATOH7 LSS FCGR3B TKT CCNO RAC1 DRC1 TRAF6 FGFR1 RRAS2 RARA NUP85 NCF2 CARD11 RNF113A METTL27 CBS BLM CD4 SMARCAD1 COL17A1 KYNU STING1 PDGFRA IL2RB IL21 TNFRSF13C CAT PAH MT-CO1 GNA11 NADK2 P4HTM MPDU1 CARMIL2 PLOD1 SLC39A4 ABCC6 XPA SLC37A4 TNFRSF1A EN1 MVK ADAM17 MMP1 IKBKG DNAJC21 RFC2 AP3B1 MAGI2 RSPH1 NCF4 PNPLA1 AIRE DNASE1 TTC37 USP8 CTSC PSMB4 IL17F CTRC COL7A1 DDB2 FOXP1 MCIDAS HBA2 NME8 GTF2H5 NECTIN1 ORC6 NUMA1 RBM8A FGA ACTA1 SP110 PIGG TGFB3 NFKB1 ABCA3 CFHR2 PRTN3 CLCNKB ZNF341 HLA-B RASGRP1 CLIP2 TNPO3 PKD1 EPM2A POLG LPL ZBTB24 ELANE APOL1 CASP10 SCNN1G SMARCE1 DNAI2 IFNGR1 GJA1 CRB2 PSMB10 SAMD9 SFTPB ZIC2 ESR1 SMARCA4 BTNL2 ZMYND10 TCF3 NCKAP1L ERCC6 SPP1 CLEC7A APOC2 PLCG2 POLH GAS2L2 EPCAM TRAF3IP2 TCF4 CLTCL1 BAP1 PKD2 BICC1 TNFSF12 WIPF1 STX11 POGLUT1 SMC3 HBB BCKDHA ANO5 CCDC40 AP2S1 SMC1A TGFBR2 STUB1 GP1BB IL37 FMR1 B2M SDHB PRKDC DLG1 MAP3K20 SERPINA1 PHGDH DSG1 RMRP SPIB KDSR ATL3 CDKN1B RIT1 SLC4A1 LMNB1 NF1 GTF2I FCHO1 CFAP221 MYO1E HLA-DPA1 ATP7B MYCN TNFRSF13B TERT CD151 COL4A3 TNFRSF11A DDB1 GJB3 CCR1 EDARADD DNAAF2 IL7 SPTBN1 DCLRE1C DNAJB13 P4HA2 MET DLK1 CTLA4 MPV17 COL4A4 ODAD1 LBR GATA4 COPA CIITA PLCD1 PDGFRL SLC6A5 IL7R MIA3 PTEN SMARCC2 NFIX ACADVL DKC1 IGBP1 DOCK8 TGM5 PIGN DNAH11 WDR1 RELB PEPD FCGR2A TGM1 KIAA0586 CR2 COL4A5 COL3A1 TET2 NFKB2 DNAJC30 MS4A2 HDAC4 ARHGDIA KRT10 CRELD1 SEC24C ERCC5 GATA3 CARD14 LCP2 FOXH1 ANAPC1 PNPLA2 GJB4 TLK2 ACTN4 ERCC1 STAT1 TNFSF11 ATP7A RUNX2 DNAAF4 DAAM2 FOXP3 NPHS2 CDON ZFAT DDX41 SHPK GNAQ ZAP70 DHCR7 FMO3 HLCS TBX19 GATA6 APOA1 TLL1 CYBA CREBBP FGF10 ST14 MYSM1 MRTFA C2orf69 IL17RA MNS1 GTF2E2 CTSB MASP2 LRBA SIAH1 WDR19 NFS1 MEG3 MS4A1 IL6R NR2F2 ARVCF KNSTRN DNAH5 LIG4 ANKFY1 NAA10 IL18BP SPTLC1 DLL1 PLA2G7 LRRC56 PSPH ENPP1 CFHR3 MT-TS1 GFI1 SPTB GTF2IRD1 NUP37 KIF11 SPINK5 FLII IRF6 TAP2 TERC C4B NUP160 LYZ PKHD1 LMX1B CASP8 NEK9 EPB42 PGM3 NLRP12 ADA ANLN NLRP1 SDHD ADAMTSL2 GAS1 RFX5 SNX10 LMF1 SLCO2A1 MT-TH TMC6 TBX2 STAG2 HLA-C ANK1 CYBB NLRC4 AXIN1 GATA1 NOP10 TBL1XR1 CFAP298 ADAMTS3 ARPC1B IL12A-AS1 HLA-DQB1 DSE JAK2 CYBC1 CD28 HLA-DPB1 SEMA4D EFL1 LAMA3 GJB6 GINS1 SMARCD1 MTHFD1 CD40LG MT-ND4 HYDIN FCGR2B SOX4 AP1B1 ALOX12B NAXD SMARCD2 IL6 KRT16 GCGR PIK3CD RETREG1 FANCF COL5A2 NIPAL4 MCCC2 COX4I2 LHCGR SPAG1 LAT2 FGFR2 NBN HSPA9 RPL11 JAK1 STAT5B RPGR DISP1 BRCA1 MT-ND1 IL12B GATA2 CD55 STXBP2 NPM1 BSCL2 RTEL1 LIMK1 GPIHBP1 NLRP3 DPF2 RNF2 CCBE1 MMEL1 DGKE RSPH9 MST1 SCNN1A FLG ACP5 USB1 ALG12 OFD1 PRKCD TRPM4 MYH9 AGPAT2 OSTM1 BLNK COL2A1 ATP8B1 MMUT XIAP DBT IRF8 PSENEN PPARG SH3KBP1 SF3B1 SH3PXD2B INAVA MT-ND6 TREX1 DNAAF1 CPA1 GNAS CRLF1 ITGA6 TNRC6B C5 TDGF1 ZEB1 CBL HPS1 BRAF NFE2L2 SMAD3 AGA IRF2BP2 IFIH1 SPTLC2 GPHN COG8 HGD CFI DNAJB11 PLXND1 MYD88 KATNB1 HNRNPA2B1 PTPRO ERCC3 FOXD3 CTBP1 RBP4 SIK3 STXBP1 ITGB2 ZNF699 ROR2 MTAP LCK WAS PAX6 LAMC2 NOD2 SCNN1B ITGB4 SLC7A7 ERCC4 POLE KIF15 GLRA1 GUSB MSX1 MT-TW FLT4 UBE2A BCL7B PML ACTG2 ATM CACNA1C MYH11 COMT SOCS1 COL5A1 IL23R SELENON SUOX FCN3 IGLL1 MPLKIP KRT17 DNAH9 CDK10 JAK3 F5 IL1RN NSD1 ADAMTS2 HEPHL1 IGSF3 TTC12 CASR BPTF TARS1 BUD23 KAT6A PLEKHM1 LPIN2 PSMB8 FLNA PTPN2 PMM2 RIPK1 RAC2 BCL11B ODAD3 LAMA2 DDR2 AUTS2 UMOD MAB21L1 IL36RN MT-TF EXTL3 XPC FCGR3A SLC27A4 FAM111B POMP DNAI1 AP1S3 SLC6A19 CXCR4 LTBP3 AR ASXL1 WT1 UBAC2 FLVCR1 MBL2 STAT2 DEAF1 PRSS1 CD3D PRSS2 CD3G OPLAH ATAD1 PTPRC RTTN IDS BMP4 NELFA PLEC TEK GORAB CFHR5 FOXC2 SBDS H6PD EFEMP2 MAPK1 TLR4 DNASE1L3 CYP4F22 MAP3K7 IGF2R RBCK1 SPEF2 PAX1 CACNA1G EPG5 PNP CD79B TNFSF15 UNC119 EDA TGDS SRD5A3 C1QB IKZF1 TAF1 CITED2 EBP CTNNB1 ITK ACTC1 NOS1 TKFC A2ML1 PSMD12 ODAD4 SEC23B ARID1A PAPSS2 VPS33B IFT172 MT-TL1 DNAH1 ABHD11 MMACHC RNASEH2A KDM6A HLA-A LMBRD1 HLA-DQA1 LEP MT-CO2 WDR26 STX1A IL12RB1 ABCB4 CIB1 PCYT1A TRPC6 IL6ST SETD2 IQSEC2 SKIV2L FGF3 MT-CO3 ALMS1 GNPTAB IL12A VPS33A UFD1 MAF XPNPEP3 NR3C1 WRAP53 UROS AKT1 CSPP1 PCCB GTF2IRD2 RHOH CLTRN LDHA RNF125 NGF POU2AF1 EDAR VPS37D FASLG ARHGAP24 F13B KCTD1 CSF2RA CAV1 PKP1 HOXA13 HDAC8 IARS2 ERF PDHA1 ANKRD55 IL4R KIRREL1 GPR101 TNFAIP3 F13A1 IVNS1ABP ECM1 FIP1L1 NHP2 MAN2B1 SDHA SGCG HBA1 CAPN3 AIP LAT COL11A2 SOX18 GIPC1 SDCCAG8 TBL2 SHANK3 RSPH3 EP300 NKX2-1 BCKDHB RYR1 VEGFC WNT4 TBC1D8B CDH1 TPM2 TINF2 GSN SLC35A1 TG UBA1 ADAR POLA1 OCRL DCDC2 RNF168 RAD21 ITGA7 PURA DNMT1 TFG JMJD1C LRRC32 MYO1H MAGT1 BIRC3 IARS1 CPLX1 RANBP2 SLC29A3 CYSLTR2 NOTCH2 NIPBL LMNB2 RAB7A CD2AP RUNX1 ZBTB16 NSUN2 MEN1 FBLN5 IRAK1 SULT2B1 SLC9A3 CSTA IKBKB BNC2 TGFB2 RET AASS TBC1D24 MALT1 KRT14 KRT5 TBCK SLC25A13 LIPN KCNJ6 TONSL ALG9 SFTPC CTSK MT-TQ LETM1 MSN CTC1 SRY NSMCE3 RREB1 REV3L AMACR COQ8B SOX11 BTD NSD2 PANK2 VIPAS39 SDR9C7 RAI1 KLRC4 SLC2A10 MPEG1 GLB1 OTULIN SRSF2 NABP1 GPR35 APC2 C1QC SYK GANAB MLX DLX4 SCN9A ATP6V1B2 PAX2 SMARCB1 NSMCE2 MORC2 C1QA GAPVD1 CYP7B1 TNFRSF1B RNASEH2B LRRC8A CHD7 COL4A6 ADA2 IFNG SDHC COG6 LONP1 GLRB PIK3R1 IRGM PRMT7 SLC12A3 MED25 PLCE1 KRT9 IL10RA PRG4 CLDN1 SH2D1A CAPN5 TIMM8A FUZ NUP93 UNC13D WDR35 JAGN1 ASAH1 TFRC XYLT1 HSD3B7 SMARCAL1 FERMT3 PAFAH1B1 MSMO1 NKX2-5 MLXIPL PRKACA PGM1 TGFBR1 MT-ND5 IL21R KPTN PLA2G6 CFB BAZ1B HMGCL POLR3A XDH HYOU1 MNX1 MEIS2 NDE1 CST6 FKBP6 DNAAF5 CLDN4 CARD8 PSMG2 CIDEC SMG8 LAGE3 HP_PERISYLVIAN_POLYMICROGYRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERISYLVIAN_POLYMICROGYRIA PTCH1 MAGEL2 OCA2 SRPX2 TBC1D20 GAS1 SHH TUBB2B SIX3 FOXH1 SNRPN ADGRG1 CDON TGIF1 PI4KA TDGF1 NDN NODAL SHMT2 FGF8 DLL1 MAPK8IP3 DISP1 MTOR ZIC2 GLI2 RAB3GAP1 HP_ABNORMAL_BRAIN_POSITRON_EMISSION_TOMOGRAPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRAIN_POSITRON_EMISSION_TOMOGRAPHY TRAF7 TMEM106B PSEN1 PDGFB COQ2 BAP1 APOE TERT TREM2 PSEN2 PIK3CA NF2 SMARCE1 GRN SQSTM1 SUFU MAPT CHMP2B SMARCB1 C9orf72 VCP SMO AKT1 HP_IRON_ACCUMULATION_IN_BRAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRON_ACCUMULATION_IN_BRAIN DLAT FA2H VPS13A PLA2G6 TBCE CP PANK2 VPS41 WDR45 FTL HP_IRON_ACCUMULATION_IN_GLOBUS_PALLIDUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRON_ACCUMULATION_IN_GLOBUS_PALLIDUS DLAT FA2H VPS41 PLA2G6 FTL HP_ABNORMALITY_OF_THE_PINEAL_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PINEAL_GLAND ATP8B1 WDR26 GALNT2 NR1H4 ABCB11 INSR PSMD12 NONO KANSL1 VAX1 PNPLA2 ABCB4 BPTF HP_ABNORMAL_PINEAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PINEAL_MORPHOLOGY KANSL1 VAX1 PNPLA2 WDR26 GALNT2 INSR PSMD12 BPTF NONO HP_PINEAL_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PINEAL_CYST KANSL1 PNPLA2 WDR26 GALNT2 PSMD12 BPTF NONO HP_ABNORMAL_THALAMIC_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THALAMIC_SIZE POMK SLC2A1 POMGNT1 POMT2 POMT1 EXOC7 GMPPB GSX2 FKRP HP_ABNORMAL_THALAMIC_MRI_SIGNAL_INTENSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THALAMIC_MRI_SIGNAL_INTENSITY TRAF7 PTCD3 MTRFR PDGFB GTPBP3 CLN8 SMARCB1 BAP1 MFF TERT COX10 POLG FTL TREM2 CP PIK3CA NF2 SMO SMARCE1 TWNK SUFU AKT1 HP_SMALL_BASAL_GANGLIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_BASAL_GANGLIA VPS13A FDXR NANS HIBCH TBCK NUP62 TUBB3 SLC19A3 CNTNAP1 CYB5R3 ADAR CYB5A MT-ATP6 HP_ABNORMAL_LARGE_INTESTINE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LARGE_INTESTINE_PHYSIOLOGY TBX1 SEC24C ABCD1 C19orf12 ARSA TCF4 COMT TP63 FLVCR1 FMR1 TBCD JMJD1C SLC9A6 RTN2 UFD1 ATRX FA2H MST1 DSTYK DAXX NOP56 CFAP43 LRIG2 GP1BB DDHD2 GLA KY ARVCF ISL1 SEMA4D PLP1 ZFYVE26 ZEB2 HPSE2 FUZ GPR35 UBAP1 SALL1 SCN4A CRKL BCR RREB1 EIF2AK2 VANGL1 MAPK1 HIRA ATP13A2 PSAP VCP DACT1 LMNB1 SLC44A1 HP_ABNORMAL_SUBARACHNOID_SPACE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SUBARACHNOID_SPACE_MORPHOLOGY ITGA2B SEPSECS MID2 MRE11 TGFBR2 GP1BA MT-TS1 ENG COL3A1 MBD5 MT-TL1 ALG2 ARHGEF6 MT-ND6 SLC13A5 FBN1 FOXE3 MYH11 RAB39B CHAMP1 EPB41L1 GDI1 DEAF1 ANGPTL6 DCC ZNF41 BRSK2 CLTC RPS6KA3 WAC KCNQ5 NBEA ALG13 SLC9A7 HIVEP2 CAMK2B MT-CO2 TGFB2 ACVRL1 ZNF81 MECP2 KDM5B TGFB3 USP27X MT-TS2 CIC FRMPD4 SMAD3 AGTR2 PTCHD1 CDH15 CACNG2 ACTA2 TAOK1 ARX CD109 MT-ND1 KIRREL3 TGFBR1 FTSJ1 PAK3 ITGB3 WARS2 RASA1 AIFM1 THSD1 MT-ND5 TSPAN7 ASH1L SYNGAP1 RAB11A CSNK2B L1CAM ZMYND11 TRPM3 ALG11 HEY2 MT-TH MED12 MYT1L MYLK MTRR IQSEC2 STXBP1 SMAD2 STEEP1 EEF1A2 GCDH MT-CO3 PRKG1 KIF1A ALG9 GRIN2B SYP IL1RAPL1 LOX MT-CO1 DLG3 SNRPN COX16 DOCK8 MAT2A GP1BB UPF3B GRIN1 AHCY SET ELN USP9X ALG12 MT-TF SETD1B TCF4 SMAD4 PLPBP CLCN4 MED12L CUX1 TSEN15 MT-TQ TGFBR3 MFAP5 TSEN2 GDF2 HCFC1 CDH2 MT-TW PPP3CA NARS1 TSEN54 ALDH7A1 ITGA2 DMD DYNC1H1 DLL1 TSEN34 MT-ND4 F10 ACSL4 CAMK2A ZNF711 NMNAT1 CNKSR2 HP_WIDENED_SUBARACHNOID_SPACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDENED_SUBARACHNOID_SPACE SEPSECS MID2 MT-TS1 MBD5 MT-TL1 ALG2 ARHGEF6 MT-ND6 SLC13A5 RAB39B CHAMP1 EPB41L1 GDI1 DEAF1 ZNF41 BRSK2 CLTC RPS6KA3 WAC KCNQ5 NBEA ALG13 SLC9A7 HIVEP2 CAMK2B MT-CO2 ZNF81 MECP2 KDM5B USP27X MT-TS2 CIC FRMPD4 AGTR2 PTCHD1 CDH15 CACNG2 TAOK1 ARX MT-ND1 KIRREL3 FTSJ1 PAK3 WARS2 AIFM1 MT-ND5 TSPAN7 ASH1L SYNGAP1 RAB11A CSNK2B ZMYND11 TRPM3 ALG11 MT-TH MED12 MYT1L MTRR IQSEC2 STXBP1 STEEP1 EEF1A2 GCDH MT-CO3 KIF1A ALG9 GRIN2B SYP IL1RAPL1 MT-CO1 DLG3 SNRPN COX16 UPF3B GRIN1 AHCY SET USP9X ALG12 MT-TF SETD1B TCF4 PLPBP CLCN4 MED12L CUX1 TSEN15 MT-TQ DOCK8 TSEN2 HCFC1 MT-TW PPP3CA NARS1 TSEN54 ALDH7A1 DMD DYNC1H1 DLL1 TSEN34 MT-ND4 ACSL4 CAMK2A ZNF711 NMNAT1 CNKSR2 HP_ABNORMAL_METABOLIC_BRAIN_IMAGING_BY_MRS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_METABOLIC_BRAIN_IMAGING_BY_MRS HSD17B10 SUCLG1 CACNA1G SDHB MT-TS1 MT-TS2 MT-TQ MT-CO3 MT-TL1 NGLY1 DNM1L TBCK ADORA2A GALC SLC35A2 MT-ND6 NDUFB8 HPDL SCO2 SDHAF1 SURF1 MT-CO1 MT-ND1 SDHD COG8 MT-TW MTRFR SQOR GATM COX16 NDUFS2 MT-ND5 GRM7 KARS1 PSAP ACAT1 CNP ASPA MT-TH CYP27A1 MT-ND4 POLR3A NDUFAF3 GAMT MT-TF MT-CO2 SLC6A8 HP_REDUCED_BRAIN_N_ACETYL_ASPARTATE_LEVEL_BY_MRS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_BRAIN_N_ACETYL_ASPARTATE_LEVEL_BY_MRS GRM7 PSAP CNP GALC CACNA1G SDHAF1 NGLY1 TBCK SDHD HP_MILD_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MILD_HEARING_IMPAIRMENT ZNF81 MID2 MECP2 IQSEC2 CLCN4 USP27X STEEP1 FRMPD4 AGTR2 ARHGEF6 PTCHD1 DPH1 MARS2 ARX SYP IL1RAPL1 RAB39B HCFC1 DLG3 COL1A2 FTSJ1 PAK3 GDI1 TSPAN7 UPF3B MFN2 ZNF41 DMD RPS6KA3 USP9X MED12 PGM3 ALG13 SLC9A7 ACSL4 ZNF711 CNKSR2 HP_SEVERE_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_HEARING_IMPAIRMENT COL1A2 CHSY1 ATP6V1B2 BRAF PTPN11 TRIOBP RAF1 ALMS1 GPSM2 TK2 HP_PROFOUND_HEARING_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROFOUND_HEARING_IMPAIRMENT MYO15A SLC12A2 SLITRK6 CIB2 PMP22 KCNQ1 EPS8 FGF3 RDX KARS1 PRPS1 YARS1 KCNE1 HP_FUNCTIONAL_ABNORMALITY_OF_THE_GASTROINTESTINAL_TRACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FUNCTIONAL_ABNORMALITY_OF_THE_GASTROINTESTINAL_TRACT ATP7A SH3KBP1 COL1A1 SATB1 ABCB1 ENG MECR CCDC47 DCTN1 CACNA1A INAVA F7 SLC18A3 TPM3 PTPN22 CAMK2B MT-ND6 MAP2K2 ATXN3 SMAD4 CDKN2B APC SLC9A6 SDHC ERBB2 LAMB3 CRLF1 SLC6A8 NTRK1 RERE DLL1 TDGF1 CBL MRPS28 PAX7 STN1 ERCC8 ARSL GFI1B MYO9A CDK19 F11 SLC13A5 HPS1 BRAF KDM5B PIK3CA ANKRD11 FAS SPEN VCP MT-TS2 SMAD3 PUS3 SIX3 ABCC6 ZEB2 NEXMIF CHRNE LMAN1 CHRNA3 MT-ND1 SEC63 BMPR1A EXT2 KCNK9 ZSWIM6 SPTLC2 ATXN7 GPHN BACH2 POLG2 TECPR2 LMOD3 MT-ND4 GRHL3 CNKSR2 MSH2 PLXND1 CARS2 FOXH1 CHRNA1 FGF8 GABRB2 SPG11 STAT3 TRPM3 ACVRL1 PHOX2B TP63 NTRK2 TWNK MT-ND2 NGLY1 HACD1 TRAK1 TBP SRP54 PIGN SEMA3C PSTPIP1 USP7 GLI2 PRKCZ MSX1 TMTC3 SLC1A2 SEMA4A ALDH18A1 SUCLG1 SHH KBTBD13 POLG DMPK CPOX STXBP1 CHRND ZNF699 CTCF WAS EHMT1 MYOT AFG3L2 LAMC2 BRCA1 ATP1A3 COG4 LMOD1 NCF1 CUX1 FA2H CREBBP ATRX TGFB1 GRIN2D TGIF1 GLRA1 PPOX GCH1 PDGFRB TSEN2 CDKN1B HNRNPK RFX5 KIT RRM2B ERAP1 MT-TW SETBP1 TNXB ATP6V1A GNS HLA-DRB1 SLC25A1 TBK1 BCL7B CCN2 PTEN PTCH1 ACTG2 DISP1 PIGA MYLK LMNB1 UBA5 SELENON KLHL41 NEUROD2 MYH11 COL13A1 RECQL4 DNM1 BICRA NEFH NEB SLC6A3 MBD5 COMT TK2 MT-ND5 IL23R FLT1 MACF1 FCN3 FBXL4 FAH FBXO7 CYP27A1 ATXN8OS JAK3 F5 GP1BA EPB41L1 UBB ARHGAP29 DEAF1 CHAT GBA ELN ADAMTS2 VWF NODAL TANGO2 EIF4H TTC7A LMX1B PANK2 HPRT1 SACS PFN1 SRPX2 WFS1 FTL NONO CYFIP2 NUP62 ITGB3 AFF4 BCL10 FGFR3 FGFR1 CNTNAP1 MT-TK DNM1L TAOK1 SYNJ1 SCARB2 BRD4 AARS1 BUD23 HRAS TERT ARFGEF2 SCN3A SYNGAP1 ATXN10 HTT ATG7 OPA1 MEFV CISD2 HIRA STAG2 B4GALNT1 GRM1 CLDN3 HNRNPH2 ATN1 NDUFS3 AICDA EEF1A2 NECTIN1 TBX1 SPTBN4 IGHM FIG4 RIPK1 SFTPA2 SNCA HIVEP2 IL10 XYLT2 TBX4 BAP1 HSPG2 PRPS1 DLL4 TBCD SMO MYPN DZIP1L TCF4 PLA2G6 WWOX CCND1 SMG9 ALS2 KAT6B ERLIN2 PNKD CDC73 LAMA2 GMPPA FERMT1 MAP2K1 SMC1A C9orf72 PDE8B GP1BB DPYSL5 IRF5 GFPT1 SATB2 MECP2 STAG1 PEX16 MT-TF ADAT3 XYLT1 TBCE PIK3R5 SOD1 NOTCH1 YARS2 SREBF1 CLN8 CDKN2C KY PPP3CA FGG UNC45A CDKN1A LRRK2 EDN3 SYT14 AR KLHL40 CAV1 ERMARD LAMB2 EIF5A IL10RB EDEM3 TMEM270 IRF9 PDPN TUBB4A ADCY6 PNP RFXAP KMT2C APOE ASXL1 ITGA2B RPL10 TRAPPC11 MAPT FUS REPS1 GAS1 MYD88 MLH1 UBAC2 RNASEH1 FLVCR1 SLCO2A1 POLR3A HPCA SLC25A24 CD3E GABBR2 KMT2A SLC25A13 SIGMAR1 CD3G DNAJB6 OPLAH GRM7 ATAD1 ADH1C CLTC NFIX PRKCSH C4A IDS BMP4 ITCH TIMM22 RFXANK NUP214 APP MYL2 TOP3A HOXB1 VAMP1 ZIC2 SMC3 SDHB EIF4G1 SLC46A1 TEK CLCN1 MID1 MCFD2 TARDBP PRKCG QDPR NFKBIA MYORG TRIP4 MGAT2 NDUFA6 ECE1 JAK2 PIEZO1 CLMP ARID2 METTL27 MAPK1 TLR4 CDC6 ARID1B NOTCH3 MAP3K7 CELF2 NALCN SLC6A9 RELN REEP1 GLA FARSB TSC1 CACNA1G FOXG1 PDGFRA RAD21 HCN1 FLAD1 SEC23A IL21 HMBS SON CBS MT-CO1 RPS20 CARMIL2 NDUFAF2 WT1 PDP1 TNFSF15 SLC37A4 TNFRSF1A KCNC3 PLEC TFAP2A CFTR LUZP1 SETD1B B2M ADAM17 MMP1 DNAJC13 ARV1 RFC2 AP3B1 KCNQ2 ELP1 ATXN2 AAAS DDIT3 IKZF1 TTC37 TAF1 FGF13 MT-ATP6 MTRFR KCNA2 SOX10 NOS1 ORC6 UBQLN2 FCGR2C SP110 PGM3 MAP1B ALDOB TGFB3 COG7 TPM2 PRTN3 KIF5A MT-TL1 SLC35C1 FMR1 KCNB1 HLA-B RASGRP1 CLIP2 SNCAIP GBA2 TNPO3 MRPS34 DGUOK DPP9 RHBDF2 ABHD11 TET2 POGZ ERCC2 FGB SCUBE3 NF2 SNAP25 ELANE PIGT NSD1 LETM1 CASP10 ACTA1 NTNG1 WAC PCNA SYT1 MSH6 HLA-DQA1 KLHL7 FBN1 ADGRG1 MT-CO2 VARS1 DDHD2 CENPT RET MATR3 MBTPS2 F8 STX1A SETX CIC GABRA5 CORIN HMGA2 IL12RB1 NEPRO NRTN EGFR SAMD9 SNRPB SLC35A2 CACNG2 CACNA1B PRKRA SCO2 PSEN1 NOTCH2NLC COL5A1 CCR6 EPCAM DDOST SOX5 MYH8 KAT6A IQSEC2 PLCG2 OPTN GNA11 MGME1 SKIV2L MCEE DHDDS F2 MT-CO3 POLR3B SCN8A GNAO1 IL12A PACS1 WIPF1 TBC1D23 VPS33A ALG9 UFD1 PMS1 ATXN1 PI4KA EXT1 YWHAG UNC45B FGF12 CSPP1 AP2S1 GTF2IRD2 MED12 TGFBR2 ASPA CHCHD10 ABCD1 STUB1 IL37 SKI TERC DYRK1A COQ2 MED12L RNF125 GNAQ POR RETREG1 POU2AF1 DOCK8 COL7A1 DOCK6 BLM ANAPC1 ERBB3 VPS37D NUS1 FASLG NDUFB8 DLG1 SURF1 F13B CTHRC1 MAP3K20 RYR1 PHGDH SZT2 TSEN54 MCOLN1 IDH2 FGA SPIB DYNC1H1 SPG7 GP9 MDM2 SEPSECS NDUFS1 GTF2I HDAC8 FCHO1 RTEL1 MSR1 KRAS HLA-DPA1 ATP7B PDHA1 ADAR DSP GALC PTS MUC5B IFNGR1 COL2A1 DDB1 MMP23B SQSTM1 PKHD1 LINGO1 CCR1 ZAP70 NOP56 TNFAIP3 IRF6 GEMIN4 F13A1 IVNS1ABP UBR7 SH2B1 FCSK GDNF ECM1 TXN2 ARF1 CTNS MFF MAN2B1 P4HA2 EWSR1 PMS2 SDHA CDH15 MLH3 PPM1D LBR GIPC1 CHAMP1 SIK1 CSNK2B TBL2 ZMYND11 SHANK3 MEGF10 TRAPPC12 EP300 CIITA GIGYF2 PYCR1 DYSF MEIS2 PIK3CD GUCY1A1 SLC6A5 GABRA2 ATP1A2 CDKL5 SLC12A2 PYROXD1 ASCC1 PORCN NPC1 TTBK2 NOD2 CYP7B1 ACADVL MADD ALMS1 ZFYVE26 ADNP FCGR2A STAT4 PALLD FARS2 FGFRL1 CPLX1 CDH1 GLUD2 PABPN1 RAI1 KIAA0586 EPRS1 FLNA KIF23 COL4A5 COL3A1 NFKB2 DNAJC30 UBTF PSAP SYT2 NRXN1 NPC2 NEDD4L SRCAP TREX1 KCNQ3 TYMP COL5A2 VPS13A ACTL6B SRSF2 CHD7 ITGA2 POLA1 OCRL ARNT2 SERPINE1 ITGA7 USP9X XIAP SEC24C SPECC1L COLQ CDKN2A BRCA2 GMNN TFG JMJD1C MYO1H ORC1 MYL9 IARS1 BRSK2 NIPBL OCA2 PRF1 DCLRE1C RUNX1 FOXP3 CDON SEC31A IDH1 STK11 UBE3A NPHS1 MEN1 DHCR7 SETD2 UBE4B PARS2 KIRREL3 PYGM STIL SLC9A3 CCDC22 F9 ASH1L RAB11A TUBB6 PLOD1 TGFB2 MAGEL2 AASS PLA2G4A SCN9A DCX FGF10 TBC1D24 ABCD4 TSC2 TSPYL1 HPDL GCDH KCND3 KIF1A MPI TP53 MYH7 GNB5 NBN SHROOM4 CRYAB GRIN2B PLAA PRNP MASP2 LRBA ORC4 ASCL1 NF1 VAPB SIAH1 PUF60 SLC2A3 GRIN1 MRPS25 FAN1 ZC4H2 VPS35 IRF2BPL ACOX1 SLC1A3 SLC52A2 ARX HPGD TSEN15 MT-TQ VAC14 ARVCF MYC MPZ PMP22 ACTA2 RREB1 TNFRSF13B SPG21 REV3L WASHC5 SPTLC1 CTLA4 SLC5A7 CTC1 TSEN34 F10 PALB2 CAMK2A PRPH NEK1 TENT5A PSPH ENPP1 LONP1 TRMT10C NDUFA9 MT-TS1 GFI1 RBPJ EXOSC9 EOGT GTF2IRD1 KNSTRN ASAH1 DKK1 TYROBP FLII RARS1 CAMTA1 LRP5 KLRC4 SLC2A10 NSD2 NUTM2B-AS1 KCNQ5 NBEA HGSNAT POLR2A MT-ND3 STXBP2 GPR35 GABRG2 XRCC1 APC2 CD109 ADAMTSL2 COQ4 WARS2 NECAP1 SYK SEMA3E MLX PIEZO2 MT-TH MYT1L DLX4 ATP6V1B2 SSR4 SDHD GREM1 WDR26 IRX5 ACTB CHMP1A TREM2 FRG1 SFTPA1 SALL1 CYBC1 STX11 TWIST1 MPL NLRC4 MYMK CTNNB1 AMER1 FGFR2 GNAS ATL3 ARPC1B COL4A6 ALDH4A1 IL12A-AS1 NDUFAF3 HLA-DQB1 SMARCA2 ABCA3 SPOP GRHL2 YY1 AFF3 COG6 FXN HLA-DPB1 SEMA4D MSL3 GLRB SLC19A3 LAMA3 GDF2 FLCN ATP11A SLC25A4 IRGM TCIRG1 TGM6 ATP13A2 PARN ADD3 PLVAP SLC44A1 HSD17B10 IL10RA AP3B2 KDELR2 CTBP1 LIFR MED17 EDNRB PAK1 IL6 TIMM8A SERPING1 FUZ KIAA0319L UNC13D PCGF2 SCN4A DAXX RABL3 GUCY2C NCAPG2 LAT2 SEMA3D STAC3 KCNAB2 NEU1 RPL11 MITF PLP1 AGRN JAK1 RLIM ASXL3 WNK1 STOX1 AGGF1 MLXIPL IL12B CAVIN1 TGFBR1 SLC25A22 AGO2 CD55 IL21R NCF4 STAT1 DAB1 LIMK1 GPIHBP1 SLC19A2 BAZ1B C19orf12 ARHGAP31 CLCN4 NR4A2 ERCC6 SLC52A3 GJB1 MMEL1 ATL1 LRPPRC EBF3 CDK4 SPART CASZ1 PRDM16 MST1 NDUFS2 MNX1 LTBP4 SET ALG12 SLC1A4 PRKCD FKBP6 FAM13A CLDN4 GDAP2 IARS2 MT-TV DALRD3 MVK CARD8 SFTPC GABRD DDC HSD3B7 LRP12 HP_VENOUS_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VENOUS_MALFORMATION PDCD10 GLMN ALX4 KRIT1 RASA1 TEK AKT1 PIK3CA MSX2 CCM2 HP_HEART_BLOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEART_BLOCK JUP GPC4 SLC25A20 RNASEH1 SCN1B SCN5A CACNA2D1 CASQ2 KCNJ5 HCN4 SEMA3A RMRP AGXT KCNJ18 LDB3 GPD1L NPPA CPT2 ACADVL RAF1 SYNE1 CALM1 CACNB2 LMNA SCN10A MTM1 GPX4 MYH6 MYH7 KCNJ8 KCNH2 PHYH ATP6V1E1 BANF1 GNAI2 BTNL2 TRPM4 ACTN2 DES GNB2 GATA6 TMEM43 TBX5 KCNQ1 NKX2-5 MT-ATP8 RANGRF TTN TBX20 POMT2 RYR2 TLL1 SCNN1A CTNNA3 SCN3B GYG1 PTPN11 DYSF MMP14 GLA GABRA3 ATP6V1A PIGU KCND3 GNB5 EMD CACNA1C PEX7 BRAF RRM2B MYOZ2 SCN2B DMPK PKP2 FHL1 PPP1CB CALM3 GPC3 KCNJ2 AKAP9 PLEC CDH2 TTR HLA-DRB1 TNNC1 CACNA1D CACNA1S LRP1 SYNE2 GATA4 MT-TL1 SLMAP CITED2 PRKAG2 GJA1 MT-CYB SCN4B KCNE3 BVES TRDN MYBPC3 ACTC1 ABCC9 SGO1 GJA5 MMP2 TNNI3K KCNE5 LEMD2 HP_UPPER_EYELID_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_EYELID_EDEMA SLC29A3 MED12L RIN2 FRMD4A KAT6A HP_CUTANEOUS_SYNDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTANEOUS_SYNDACTYLY LMBR1 FRAS1 TBC1D24 NOG BICRA LEMD3 TP63 RPL10 FGFR2 PIEZO2 TWIST1 GLI3 ORC1 KIF7 CDH1 FAT4 SMO CHSY1 MECP2 KIAA1109 MEGF8 NECTIN4 MCTP2 LRP4 WDR19 RBM10 CCBE1 GJA1 BCOR IRF6 DYRK1A DCHS1 CREBBP PAX3 EP300 ROR2 CDH11 SVBP TMEM94 FGF9 HOXD13 GRIP1 MAP3K20 NECTIN1 CEP55 CTNND1 BHLHA9 MYH8 KAT6A KCTD1 FREM2 ANKRD11 XYLT1 SLC39A8 CKAP2L ATP6V1B2 CHUK MEIS2 SMARCAD1 CACNA1C HP_EPISODIC_HYPOKALEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISODIC_HYPOKALEMIA GABRA3 KCNE3 SCN4A CACNA1S KCNJ18 HP_THORACIC_AORTIC_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THORACIC_AORTIC_ANEURYSM PALS1 JARID2 TENT5A MYT1L TPM2 KMT2E KDELR2 COL1A1 TGFBR2 CCDC32 GTF2I B3GALT6 B3GAT3 COL3A1 NODAL COL5A1 GTF2IRD1 ZMIZ1 SPEN CLIP2 FBN1 FOXE3 MYH11 WASF1 ABHD11 PKD1 NTNG1 KANSL1 ENG MMP23B ANGPTL6 ELN SLC2A10 WDFY3 KCNH1 ERCC8 EIF4H TGFB2 LAT2 TGFB3 PGM3 MBTPS2 STX1A KCNAB2 FMR1 NKX2-5 SMAD3 TRIP12 CHST3 SLC12A2 SVBP ACTA2 AFF4 TANC2 MED27 ROBO4 UBE4B GRIA4 DNMT3A IL12B TGFBR1 MED12 BUD23 DNAJB11 GATA5 NKAP CNOT3 NOTCH1 ACTL6B METTL27 GANAB KCNMA1 TBL2 SEMA3E MLX HEY2 LIMK1 TCF20 CLDN3 SKI LMNA MFAP5 MYLK BAZ1B SMAD2 HLA-B HUWE1 KAT8 DPYSL5 HS2ST1 PRKG1 BPTF PKD2 ERCC6 BICC1 CARS1 RERE PRKCZ HSPG2 MYPN PUS7 DDX6 PTPN23 MED13 UBR7 LOX CASZ1 COL1A2 FBN2 PRDM16 NTNG2 MAT2A PPP1CB PIGN SMAD6 GTF2IRD2 ZMPSTE24 DOCK3 ALG9 LUZP1 THSD1 RLIM NCF1 ACTL6A RFC2 MAPK8IP3 HPDL FKBP6 TGFBR3 CLDN4 DNAJC30 HTT VPS37D BRF1 MLXIPL BCORL1 KDM4B AEBP1 TNRC6B PSMD12 COL5A2 TRMT1 TMEM270 TPM3 CHD7 TRAPPC4 BCL7B SATB1 FBXW11 AGO2 GABRD PDPN MADD FBLN5 SMAD4 HP_ECTOPIC_ANTERIOR_PITUITARY_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTOPIC_ANTERIOR_PITUITARY_GLAND OTX2 HESX1 LHX4 SOX3 GLI2 PROP1 FOXA2 POU1F1 HP_ANORECTAL_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANORECTAL_ANOMALY COL1A1 MKKS GTF2I KMT2D FANCB MYCN TNFRSF13B CDH1 TERT SMAD4 MAMLD1 HOXD13 DDB1 TNRC6B MMP23B RSPO2 C2CD3 NCF2 RPS6KA3 NHP2 PIK3CA TGFBR2 SPEN DACT1 PMS2 SDHA INSR BMPR1A ENG FREM2 COX7B MLH3 MSH2 RFX6 NXN TBL2 RFWD3 FREM1 DYNC2H1 ERCC4 KLLN SDHC OTUD5 GRIP1 PIGN MKS1 FGFR2 RERE PRKCZ CHEK2 SEMA4A PARN TDGF1 SMO DKC1 FOXF1 ITGB2 ROR2 FCGR2A MED12 DVL3 IKZF3 EHMT1 FKRP PQBP1 POLE FANCL SPINT2 NCF1 TNFSF12 TINF2 TGFB1 HCCS DNAJC30 SALL1 KIT CDKN2A SETBP1 COL5A2 MDM2 PSENEN CD96 FGF8 BCL7B PTEN NFKB1 CHN1 RECQL4 CCNQ MYH11 SEC24C SPECC1L NFKB2 POLR1D COMT JMJD1C DCHS1 BRCA2 RAD51 POR CDC45 WDR35 POLD1 PGAP2 UBR1 ELN EIF4H PTCH1 GLI3 NTHL1 NSUN2 FANCA CDH11 STK11 DOCK8 FUZ UBE4B PORCN POLR1B BUD23 CCDC22 SDHD VANGL1 DPYS HIRA CLDN3 ATN1 TBX1 RIPK1 MUTYH FOXH1 KRT5 HSPG2 TBX3 NBN FERMT1 FKTN PIGO CEP120 FAN1 USP9X WNT3 MS4A1 FANCF ESCO2 POLR1C ARVCF CAPN15 ISL1 CTC1 B3GLCT POFUT1 RREB1 NAA10 TTC7A IL10RB WASHC5 BRCA1 TMEM270 CDK8 PDPN DISP1 KMT2C CHRM3 RAD51C SALL4 RNF43 KEAP1 LONP1 GAS1 MLH1 MAFB MEOX1 PIGL GTF2IRD1 KIF7 TGIF1 SLC25A24 KRAS ICOS CD81 TERC TWIST2 PIGV EMC1 DYNC2I1 ZIC3 EXTL3 TCOF1 SHH SLX4 ABL1 SIX3 IFT80 NDUFB11 MID1 RAC2 PITX2 RRAS2 DYNC2I2 PIGY SYK DLL1 METTL27 JAK3 CHD7 CD19 GREM1 XRCC2 PDGFRA CYBC1 CYBB TWIST1 AMER1 NODAL RPS20 NOP10 ATP2A2 SUZ12 CFTR LUZP1 INTU ADAM17 MMP1 FANCC RFC2 UPB1 PIGW CDON UBE2T NPM1 AR USF3 DDX6 PGAP3 MAD2L2 IL10RA SEMA3E CLIP2 GDF6 FOXC1 FANCE BCOR ABHD11 ACADVL ELANE ZIC2 GLI2 CYBA MSH6 FANCI CCBE1 LAT2 KDM6A CR2 HSPA9 STX1A KCNAB2 CTNND1 TP53 EGFR SNRPB SIN3A COL5A1 MLXIPL MSH3 EPCAM POMT2 LIMK1 SKI FRAS1 BAZ1B SDHB TP63 GATA1 UFD1 PMS1 LIG4 SEC23B RTEL1 CASZ1 POGLUT1 RIPK4 PRDM16 GDF3 DICER1 POMT1 MNX1 WRAP53 LTBP4 TNFRSF13C WNT7A USB1 FLI1 GTF2IRD2 GP1BB THOC6 FKBP6 CHD4 CLDN4 PTDSS1 COL7A1 PRKCD VPS37D FANCG PPP2R3C TCTN3 AKT1 BRIP1 FANCD2 LARGE1 GABRD FANCM PALB2 PKP1 FAT4 AXIN2 HP_MACULE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULE MYT1L KMT2E BRCA2 CCDC32 NF1 ABCB6 BUB3 BUB1B KRAS PTEN ERCC8 KMT2D MAP2K2 GJB6 ESCO2 TERT CDKN2B PIK3CA NTNG1 MMP23B VHL RAF1 WDFY3 TERC GPNMB ACTB STEAP3 FANCA IL7 BRAF MSH2 NHP2 TOP3A SPEN FANCC SLX4 ERCC6 SLC12A2 KANSL1 ATP2A2 ELOVL4 CDKN1C GJB2 TSC2 SIN3A WASF1 GRIA4 SNAI2 PLXND1 NCF2 ACTL6B MAPK1 KCNMA1 RFWD3 BLM TMC6 ERCC4 KLLN CYBB GJB3 CWC27 SDHC TSC1 AKT1 HUWE1 XRCC2 TP63 HS2ST1 ATM BPTF RERE PRKCZ C1R PLAG1 SOX10 PUS7 PTPN23 MAN1B1 UBR7 PARN PORCN PCNT DKC1 KITLG NOP10 TGM5 RET PPP1CB PIGN XPA ZMPSTE24 GNAS PHIP IL6 SH3PXD2B IFNG MTOR POFUT1 LMNA LUZP1 NONO FANCL BRIP1 RLIM CYBC1 ACTL6A PRKAR1A TINF2 MAPK8IP3 HPDL ERCC2 MED12 XPC NCF4 COL3A1 SVBP IKZF1 UBE2T TTC37 CDKN1B IGF2 NPM1 BCORL1 DDB2 KDM4B RAD51 TMC8 EPHB4 PSMD12 MMP2 PSENEN USF3 PRKCD AGO2 PTPN11 MAD2L2 PALS1 JARID2 PALB2 FANCI BUB1 KRT14 ANAPC1 ZMIZ1 HLA-B GJB4 SMARCAL1 ERCC1 ERCC5 FANCE NRAS KDM5C FANCF DSTYK UBR1 KIT MAX SHOC2 C1S WBP11 FANCG ADAR PMS2 KDM6A HMGA2 GJA1 HLA-DRB1 KCNAB2 SDHB TRIP12 STK11 TANC2 FANCD2 MEN1 SPRED1 FGFR3 CIB1 MED27 UBE4B NF2 CSTA SDHD CNOT3 RBBP8 TCF20 TWIST2 CYBA SKI MLH1 KDM6B ARL6IP6 SKIV2L KRT5 APC KAT8 FANCB DPYSL5 HLA-DQB1 ST3GAL5 SASH1 HSPG2 DDX6 CREBBP NBN MED13 NCF1 TMEM127 SEC23B SETBP1 RTEL1 CEP57 CASZ1 POGLUT1 MAP2K1 PRDM16 ERCC3 NTNG2 IGF1 WRAP53 ACP5 PLEC RASA1 USB1 DOCK3 MSH6 CDKN2C INSR CTC1 CDKN1A HTT TRIP13 COPB1 GNAQ CBL LZTR1 TNRC6B REV3L TRMT1 EP300 BRCA1 TRAPPC4 SATB1 FBXW11 KDSR GABRD PDPN FANCM KIF1B MADD SMARCAD1 TNFRSF1A RAD51C HP_KETOTIC_HYPOGLYCEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KETOTIC_HYPOGLYCEMIA ACAD8 NNT HNF1A SLC16A1 MC2R MRAP GYS2 STAR TXNRD2 ACADS HP_COUGH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COUGH HLA-DRB1 PRTN3 GBA RTEL1 PANK2 CFAP221 DNAH1 HLA-DPA1 ODAD2 RSPH4A TFG HLA-B PTPN22 DNAAF2 SCNN1G IGLL1 DSP DPP9 MUC5B DNAH9 TERT TGFBR2 CRLF1 CD79B MCIDAS HLA-DPB1 TRAF3IP2 IL17RC DNAI2 HLA-DQA1 DNAAF4 FIP1L1 CSF2RB EPOR TTC12 DNAAF1 DNAJB13 P4HA2 SFTPA2 ZBTB16 CFAP300 BTNL2 NABP1 CCNO DNASE1L3 IL2RG DRC1 CCDC65 DNAAF6 FOXJ1 ODAD1 SPTLC2 SCNN1B SPAG1 CCDC40 RARA ZMYND10 DNAI1 LRRC56 NEK10 BCOR EIF2AK4 NPM1 LPIN2 RSPH3 RNF6 PARN COPA SCNN1A DNAL1 CLEC7A GAS2L2 SPEF2 SLC11A1 FARSB TSC1 TSC2 CCDC39 STAT3 BLNK SFTPA1 CCDC103 SLC34A2 FARSA BAP1 MARS1 ATL1 ODAD3 RSPH9 IGHM TBL1XR1 DNAH11 LRRC8A DLEC1 DNAAF3 STAT5B ATL3 POMT1 COL4A6 GAS8 HLA-DQB1 ODAD4 ABCA3 PRKAR1A SFTPC TERC IL17RA TCF3 RSPH1 DNAAF5 COL4A5 FAM13A IKZF1 MPZ PIK3R1 IL17F OFD1 CD79A NKX2-1 MT-CYB CFTR PMP22 NME8 NOS1 ATP11A RFC1 CSF2RA STN1 SPTLC1 WWOX CTLA4 DNAH5 NUMA1 ACAT1 RPGR PML IRF2BP2 DNAAF11 CFAP298 SP110 HYDIN STK36 HP_PROFOUND_GLOBAL_DEVELOPMENTAL_DELAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROFOUND_GLOBAL_DEVELOPMENTAL_DELAY ZNF335 PEX6 ATRX PEX14 MFF PEX3 PIGU FDFT1 TBCK PTPN23 PRUNE1 PEX11B PEX16 SLC12A2 FGF13 PEX10 OPA1 PSAT1 PLEKHG2 NDE1 PEX12 PEX5 SLC9A6 TELO2 PRPS1 PEX1 PEX19 GRIN2A SETBP1 UNC80 GLYCTK FARS2 LIAS PEX2 PEX26 PARS2 WDR4 KCNQ2 GRIN1 DENND5A CRIPT PEX13 ASNS ARX SLC39A8 RELN LIPT2 COG7 HP_PAPILLOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAPILLOMA PIK3CA TMC6 KRT9 SDHC NRAS SDHB BLNK STK4 ATP2A2 PTEN FCN3 IGLL1 KRT16 TP53 ERCC5 SEC23B TMC8 PORCN CARMIL2 IGHM ERCC3 FLT4 CD79B XPA LRRC8A IVNS1ABP ECM1 IL7 CXCR4 TPP2 DCLRE1C IKBKG ERCC4 ERCC2 TCF3 XPC DOCK8 KRT1 CIB1 PIK3R1 CD79A DDB2 MSH3 HRAS USF3 SDHD AKT1 CD4 KLLN HP_UNILATERAL_CRYPTORCHIDISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNILATERAL_CRYPTORCHIDISM INSL3 RNF135 NFIB NFIX ADARB1 XYLT2 SRY HP_ABDOMINAL_OBESITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABDOMINAL_OBESITY SIM1 ZPR1 USP8 MTTP ARMC5 AIP HERC2 NPAP1 BLM CCDC28B ARL6 NDN BBS1 RNPC3 SNRPN MAGEL2 PWRN1 NKAP SNORD116-1 SNORD115-1 MKRN3 DYRK1B PWAR1 CUL4B LIPE HP_SHORT_PALPEBRAL_FISSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_PALPEBRAL_FISSURE SMPD4 UBE3B LIFR MAFB DONSON MAPRE2 USP9X MYCN SOX11 BRCA2 THOC6 ORC1 RTL1 SLC25A24 FANCE SLX4 KMT2A EXOSC2 DDB1 BPTF SLC2A10 SMAD4 PRMT7 FANCI SMOC1 TXNL4A GJA1 KANSL1 EP300 FANCA SMARCA2 CDK13 SNX14 FANCL SALL4 MAGEL2 RFWD3 MADD NUAK2 HNRNPH2 ERCC4 KRAS BCL11B TMEM107 MOGS ZNF148 MUSK CLTCL1 LARP7 XRCC2 FANCB PPP1R12A KCNJ2 RBPJ TBX15 TUBB ALX4 FAT4 ZMPSTE24 AUTS2 MEG3 RBM10 ERMARD SOX9 STAC3 SOX6 FANCF AFF3 HUWE1 DCHS1 WAC FANCC CREBBP KIF15 PUF60 KCNJ5 CHD4 PIEZO2 LMNA UBE2T B3GLCT FANCG UGDH RAD51 CEP57 BRCA1 TBX1 BRIP1 FANCD2 DLK1 FANCM POLR1A PALB2 CHN1 COG7 MAD2L2 RAD51C KAT6B HP_ABNORMAL_BRAINSTEM_MRI_SIGNAL_INTENSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRAINSTEM_MRI_SIGNAL_INTENSITY NDUFS3 NDUFS1 NDUFB11 NDUFS2 AIFM1 NDUFAF8 NDUFA6 NDUFA11 NDUFB10 MT-ND3 NDUFAF3 NDUFAF4 SLC19A3 KRIT1 NDUFS6 NDUFV1 MT-ND1 MT-ND2 LAMA2 NDUFB9 MTRFR NDUFS7 NDUFAF5 GTPBP3 NDUFA1 NDUFS4 NDUFAF2 NDUFV2 ETHE1 NDUFS8 CCM2 TIMMDC1 PDCD10 RANBP2 NDUFAF1 NDUFB3 TMEM126B FOXRED1 NUBPL HP_FOCAL_T2_HYPERINTENSE_BRAINSTEM_LESION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_T2_HYPERINTENSE_BRAINSTEM_LESION NDUFS3 NDUFS1 NDUFB11 NDUFS2 NDUFAF8 NDUFA6 NDUFA11 NDUFB10 MT-ND3 NDUFAF3 NDUFAF4 KRIT1 NDUFS6 NDUFV1 MT-ND1 MT-ND2 NDUFB9 NDUFS7 NDUFAF5 NDUFA1 NDUFS4 NDUFAF2 NDUFV2 NDUFS8 CCM2 TIMMDC1 PDCD10 NDUFAF1 NDUFB3 TMEM126B FOXRED1 NUBPL HP_ABNORMAL_BASAL_GANGLIA_MRI_SIGNAL_INTENSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BASAL_GANGLIA_MRI_SIGNAL_INTENSITY NDUFS4 MT-ND2 SURF1 NDUFA4 GCDH MT-TL1 MT-ND5 NDUFS1 ALG2 MT-ATP6 LRPPRC COQ2 SUCLG1 NADK2 ASPA MT-TW PET100 SPG11 MT-ND6 TACO1 SDHA LIPT1 GLB1 SLC19A3 NDUFA9 NDUFA12 NDUFAF6 ETHE1 MT-ND3 NDUFS2 MICU1 COQ8A FOXRED1 GLI3 NDUFS3 MFF COX15 SLC30A10 MT-ND1 NDUFA10 PRNP MT-TK NDUFV2 MT-TV GTPBP3 NDUFS8 MT-ND4 NDUFA2 NDUFAF5 NDUFA13 FASTKD2 NDUFAF2 PDHA1 ECHS1 NDUFV1 MTFMT NDUFS7 PDSS2 HP_ABNORMAL_NEURON_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NEURON_MORPHOLOGY FUS NEFH CCNF TYROBP PPARGC1A DCTN1 TAF15 SQSTM1 ASAH1 CHCHD10 MAPT CHMP2B CFAP410 SIGMAR1 FIG4 ATXN2 C9orf72 VPS41 CYLD TREM2 UNC13A SPG11 TARDBP MATR3 PFN1 PRKAR1B VCP TRPM7 VAPB TIA1 HNRNPA1 CEP126 TBK1 ALS2 RBM28 GRN AKT3 UBA1 ANXA11 VRK1 SCP2 HNRNPA2B1 CPLANE1 OPTN SMN1 VPS13D ZNF335 PON2 ERBB4 ANG POLR3B PON1 GLE1 SPG7 ALDH18A1 PLEKHG5 C19orf12 SOD1 IGHMBP2 POLR3A PON3 PIK3CA GLT8D1 PSEN1 EPHA4 SETX UBQLN2 DAO TFG TMEM106B TUBA4A GBE1 PRPH PNPLA6 ERLIN2 SMN2 NEK1 KIF5A ATXN3 HP_CEREBRAL_WHITE_MATTER_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_WHITE_MATTER_ATROPHY PLAA MAN2B1 IRF2BPL HSD17B4 IBA57 CACNA1E BCAP31 CLN5 ATXN2 USP7 ERCC6 SLC35A2 ALDH18A1 ATP8A2 DNM1L GBA2 MYL9 L2HGDH POLR3K FA2H PHGDH TRAPPC11 NDUFA8 COG5 VPS41 ALG3 DPM2 AIMP1 FAR1 EMC1 GFM2 OPA1 HACE1 MAG ALG11 ASPA ERCC8 STUB1 LMNB1 PEX16 FAM126A DCX HP_ORTHOPNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORTHOPNEA KIF20A MYPN CHRNB1 AK9 LRP4 TNNI3 GATA4 TBX20 CHRNE SCN4A CITED2 CHRNA1 GATA6 NKX2-5 RAPSN ACTC1 TLL1 CHRND AGRN FLNC TTN COL13A1 DOK7 MYH6 TNNT2 MUSK HP_WIDENED_CEREBELLAR_SUBARACHNOID_SPACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDENED_CEREBELLAR_SUBARACHNOID_SPACE SEPSECS TSEN34 TSEN54 TSEN2 TSEN15 NMNAT1 HP_WIDENED_CEREBRAL_SUBARACHNOID_SPACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDENED_CEREBRAL_SUBARACHNOID_SPACE MT-TW NARS1 MT-TS1 MT-TS2 MT-TQ MT-ND5 MT-CO3 MT-TL1 MT-ND6 MT-TH ALG12 MT-ND4 MT-TF MT-CO2 MT-CO1 MT-ND1 HP_ABNORMAL_PLACENTAL_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLACENTAL_SIZE RTL1 MEG3 MUSK HMGA2 ZMPSTE24 PHGDH LMNA IGF1 MKS1 CDKN1C PLAG1 DLK1 IGF2 TTC37 HSPG2 HP_NEONATAL_ASPHYXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEONATAL_ASPHYXIA HSD3B2 PLPBP GALK1 SMARCA2 ALDH7A1 MYF6 SHPK RYR1 MTMR14 SLC13A5 DNM2 SLC27A4 RNF168 BIN1 HP_ABNORMAL_ARM_SPAN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ARM_SPAN MAF FBN1 COL9A1 COL9A2 DLG4 COL9A3 SETD2 TGFB3 APC2 NSD1 TRAPPC2 HP_INCREASED_ARM_SPAN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_ARM_SPAN FBN1 DLG4 SETD2 TGFB3 APC2 NSD1 TRAPPC2 HP_ABNORMAL_CILIARY_BODY_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CILIARY_BODY_MORPHOLOGY CYSLTR2 GNAQ SF3B1 BAP1 LAMB2 GNA11 HP_NEOPLASM_OF_THE_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_EAR NKX2-1 HRAS SIX1 NF2 EYA1 PRKAR1A DDR2 CHRNG SYK NSD1 KARS1 VHL SETD2 APC2 HP_KINKED_BRAINSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KINKED_BRAINSTEM LARGE1 FKRP POMT2 KIAA1109 FKTN POMT1 HP_INCREASED_CUP_TO_DISC_RATIO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CUP_TO_DISC_RATIO ASB10 CYP1B1 TRAPPC12 COL18A1 MYOC HP_NARROW_JAW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_JAW CCNK SLC18A3 SLC5A7 COL13A1 VAMP1 SNAP25 SLC25A1 SYT2 CHAT AGRN MYO9A MYOD1 HP_BROAD_JAW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BROAD_JAW LRP5 SH3BP2 GPR101 SNIP1 AIP ANO5 HP_CORNEAL_ULCERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORNEAL_ULCERATION FGFR3 RIPK4 GATA1 GJB2 KIFBP NTRK1 ELP1 UROS NGLY1 MTTP FGFR2 ZMPSTE24 ERCC6 FOXC2 ERCC8 PRDM12 GSN UROD LMNA TAT FGF10 HP_IRIS_TRANSILLUMINATION_DEFECT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRIS_TRANSILLUMINATION_DEFECT CHRDL1 C1QTNF5 DCT OCA2 BLOC1S5 MC1R CPAMD8 HP_ABNORMAL_NASAL_BASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NASAL_BASE SMARCB1 TBC1D24 SMARCA2 SOX4 ARID2 LIFR FIG4 SMARCC2 SNX14 ABCA5 SLC26A2 SIN3A SMARCA4 SMARCD1 EXOSC2 DPF2 BCORL1 VAC14 ARID1B SMARCE1 USP9X AUTS2 METTL5 SOX11 ATP6V1B2 ARID1A HP_WIDE_NASAL_RIDGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WIDE_NASAL_RIDGE TBL1XR1 SUZ12 RPL10 MSL3 AP4M1 ALX4 METTL5 HNRNPK POLR3A HP_HYPOPLASTIC_FEMALE_EXTERNAL_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_FEMALE_EXTERNAL_GENITALIA CCNQ GAD1 SIM1 RAC3 HDAC8 FIG4 MAGEL2 GMNN CDC6 HERC2 SEMA3E DVL1 UBE3B DVL3 RAB3GAP1 ORC1 SLC25A24 POR NDN ROR2 RIPK4 RAB3GAP2 ORC4 PWRN1 SMC3 VAC14 CTCF CDT1 ACTB FGFR2 SMC1A ESR2 NIPBL MKRN3 PWAR1 SMARCA2 RAB18 IRF6 OCA2 WNT5A SMCHD1 SNRPN NPAP1 TBC1D20 B3GLCT PORCN ECEL1 BRD4 FZD2 TP63 ORC6 NXN CHD7 SETBP1 SNORD116-1 SNORD115-1 AR POC1A RAD21 CDC45 HP_NONCOMPACTION_CARDIOMYOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NONCOMPACTION_CARDIOMYOPATHY RYR2 RNU4ATAC MYSM1 SDHAF1 DNAJC19 DTNA NONO SDHA SDHB MIB1 MYOCD MLYCD SDHD HP_RETINAL_VASCULAR_TORTUOSITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_VASCULAR_TORTUOSITY TBX1 SEC24C PAX6 BAZ1B NDP MT-ND4 GTF2I MT-CYB COMT GTF2IRD1 JMJD1C CLIP2 ELN COL4A1 MT-CO3 MT-ATP6 UFD1 SELENOI ABHD11 LRP5 MT-ND5 NEK1 WT1 MT-ND2 ESS2 DGCR2 DNAJC30 GTF2IRD2 GP1BB MT-ND1 EIF4H LAT2 CENPF STX1A NCF1 MT-ND6 MT-ND4L NDUFS2 RFC2 FKBP6 ARVCF CLDN4 MT-CO1 VPS37D MLXIPL FZD4 BUD23 DGCR6 RREB1 TMEM270 ETHE1 METTL27 BCL7B TBL2 HIRA DGCR8 LIMK1 CLDN3 HP_SKIN_APPENDAGE_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_APPENDAGE_NEOPLASM WNT10A APC KEAP1 CTNNB1 MLH1 DICER1 KLLN CREBBP PTEN MSH2 EP300 SEC23B FLCN HP_SMALL_INTESTINAL_DYSMOTILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_INTESTINAL_DYSMOTILITY RRM2B TYMP POLG MYO1H CPOX HP_ABNORMAL_SCROTAL_RUGATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SCROTAL_RUGATION NR5A1 TOE1 MINPP1 SRY SOX9 HP_OVOTESTIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVOTESTIS RSPO1 SRY NDUFB11 COX7B HCCS WNT4 HP_ABNORMAL_GERM_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GERM_CELL_MORPHOLOGY PMFBP1 ARMC2 SEPTIN12 DNAH8 CFAP44 NANOS1 CFAP58 SUN5 DPY19L2 CFAP69 ACTL9 FSHB SPEF2 PPP2R3C SPATA16 CFAP70 FSIP2 GBA2 KLHL10 DNAH1 DNAH2 TSGA10 CFAP251 CFAP47 CDC14A CFAP43 DZIP1 CFAP91 CFAP65 CATIP DNAH17 CEP112 QRICH2 TTC29 DNAH10 BRDT HP_ABNORMAL_SPERM_HEAD_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SPERM_HEAD_MORPHOLOGY TSGA10 PMFBP1 CFAP47 ARMC2 SUN5 NANOS1 DPY19L2 CFAP91 CFAP69 ACTL9 CATIP DNAH17 SPATA16 CFAP70 CEP112 GBA2 TTC29 BRDT HP_ABNORMAL_SPERM_TAIL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SPERM_TAIL_MORPHOLOGY DNAH2 CFAP251 CFAP47 ARMC2 DNAH8 CFAP44 CFAP43 CFAP58 DZIP1 NANOS1 CFAP91 CFAP69 CFAP65 CATIP DNAH17 SPEF2 CFAP70 FSIP2 QRICH2 TTC29 DNAH10 DNAH1 HP_ACEPHALIC_SPERMATOZOA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACEPHALIC_SPERMATOZOA TSGA10 PMFBP1 SUN5 CEP112 BRDT HP_ABNORMAL_MALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY GNRH1 ARMC2 GTF2I CFAP221 SEMA3A ERCC8 EIF2S3 TTR CDKN2B SPINK2 KISS1 NDP GPR101 ANOS1 C14orf39 SOX3 NR5A1 STEAP3 HFE SOHLH1 CATSPER1 DNAJB13 CTNS ERCC6 ZMYND15 DAZ1 PRY2 STRC PIK3CA AIP WDR11 FGF8 MECP2 DNAJB11 DCAF17 ODAD1 CFTR TBL2 DMRT3 RFWD3 RSPH3 ERCC4 DNAH10 GUCY1A1 PDGFB DNAH8 DBH TACR3 CCDC39 CCDC141 NANOS1 BAP1 FANCM CDH23 FMR1 VPS13C ALMS1 STAR DNAH11 DNAH17 USP9Y WWOX PROK2 DNAAF11 GAS8 NCF1 AR FGF17 MRAP SUN5 DAZ3 DNAJC30 HESX1 KLHL10 CFAP410 SYCP3 ANTXR1 BCL7B DNAH5 RPGR OCRL WFS1 PIGA ATM LMNB1 TTC29 POC1A BRCC3 SPAG17 ANAPC1 RSPH4A SPEF2 DNAAF2 BRCA2 ERCC1 DMPK MCM8 DNAH9 CDKN1B GBA ELN SLC29A3 ZFPM2 DNAAF4 EIF4H TTC12 SYCE1 SPRY4 SYCP2 SACS FLRT3 FANCA PINK1 RBMY1A1 CCDC65 CATSPER2 FGFR1 TDRD9 BUD23 DNAI1 NEK10 CEP19 CISD2 CLDN3 NSMF CLDN2 LRRK2 TEX11 SMO UCHL1 FSHB FANCB LHB GALC TAF4B FGFR3 ODAD3 SOX9 DNAAF3 KIT DUSP6 ALG9 CYP17A1 FANCF M1AP CDKN2C SLC40A1 MAP3K1 NR0B1 CDKN1A STK36 SRY FEZF1 GBA2 DDX3Y BRCA1 TMEM270 TAC3 LRRC56 SYNJ1 RAD51C GATA4 CFAP58 HS6ST1 CFAP69 ODAD2 GTF2IRD1 RTN2 XRCC2 DHH STK11 HNF1B HEXB PROKR2 DAZ2 AKT1 TEX14 SLX4 POLA1 CCNO RSPH9 UBAP1 DRC1 PODXL TFR2 CCDC40 CHD7 WT1 KISS1R METTL27 GANAB VAMP7 SOX10 BLM COQ2 HSFY1 BCL10 PMFBP1 ADGRG2 CACNA1G MEIOB MEN1 KDM5D TSPY1 MC2R CFAP298 HTRA2 TRAF7 FANCC RFC2 RSPH1 AIRE ANK1 UBE2T SUFU HSD3B2 RAD51 PARK7 DZIP1 NME8 ODAD4 NNT HYDIN CDY1 MAD2L2 ABCD1 BPY2 HBB DNAH1 RPS4Y2 CLIP2 CFAP70 CNBP FANCE ABHD11 PKD1 SMARCB1 IL17RD TEX15 MCIDAS VCY GNRHR DCC FANCI LHCGR TXNRD2 LAT2 DNAAF1 STX1A BMP2 CDY2A CFAP300 PRKN HJV FOXJ1 NF2 SMARCE1 SPAG1 FANCL ZMYND10 SNCA ATXN8OS SCP2 LIMK1 DNAL1 GAS2L2 BAZ1B DNAI2 TERT NDNF PKD2 BICC1 DNAAF6 DNAJC6 DNAH2 NR3C1 CFAP65 CATIP CCDC103 HAMP GTF2IRD2 CFAP47 FKBP6 POR DNAAF5 CLDN4 VPS37D DHX37 FANCG MLXIPL OFD1 DAZ4 AURKC CFAP91 BRIP1 FANCD2 PRY CEP112 PALB2 BRDT HP_ABNORMAL_LABIA_MINORA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LABIA_MINORA_MORPHOLOGY GAD1 SIM1 MAGEL2 CDC6 HERC2 DVL1 DVL3 RAB3GAP1 ORC1 ESCO2 NDN KAT6B RAB3GAP2 ORC4 PWRN1 CDT1 ACTB FGFR2 MKRN3 PWAR1 ATIC RAB18 OCA2 SNRPN NPAP1 WNT5A GMNN TBC1D20 ZFPM2 FZD2 ORC6 POR SETBP1 SNORD116-1 SNORD115-1 CDC45 HP_ABNORMAL_LABIA_MAJORA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LABIA_MAJORA_MORPHOLOGY GAD1 PMM2 HDAC8 FIG4 AR GMNN CDC6 DVL1 UBE3B DVL3 ORC1 SLC25A24 ROR2 RIPK4 ORC4 SMC3 CHRNG VAC14 CTCF CDT1 RAB3GAP2 NR5A1 LIPE FGFR2 SMC1A ESR2 NIPBL IRF6 WNT5A POR SMCHD1 B3GLCT MYH3 HSD3B2 ECEL1 BRD4 FZD2 TP63 ORC6 SETBP1 RAD21 CDC45 HP_ABNORMALITY_OF_THE_UTERINE_CERVIX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_UTERINE_CERVIX PLG STK11 COL3A1 COL1A1 CXCR4 AR COL5A2 CDKN1B SRY COL5A1 HP_ABNORMAL_MOTOR_EVOKED_POTENTIALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MOTOR_EVOKED_POTENTIALS SACS CPT1C STUB1 CYP27A1 GJC2 NEFL HP_HANDGRIP_MYOTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HANDGRIP_MYOTONIA CLCN1 HINT1 DMPK ACTA1 SCN4A PURA HP_EURYBLEPHARON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EURYBLEPHARON CTNND1 DVL1 WNT5A ACTB DLX4 DVL3 ACTG1 FZD2 CDH1 HP_ESODEVIATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESODEVIATION NEUROD2 RORA RTL1 PPP1R21 NTNG2 B3GAT3 ARHGAP31 IARS2 AHDC1 GRHL2 PIGL SLC35C1 PDE4D ADGRG1 HERC2 SLC18A3 ALG2 SREBF1 PAK1 POU4F1 DPM1 AMMECR1 COG8 MPLKIP GALC OVOL2 PGAP2 UNC80 SCN8A CACNA1A DDB1 TCTN3 SNAP25 BPTF RERE CHAT GRID2 COL4A2 TENM3 PIGV GRM1 SLC38A8 KCNMA1 EMC1 PPP2R5D COL6A2 HOXB1 RRM2B ATOH7 KIDINS220 TELO2 TMEM216 AGRN CHST3 COL12A1 NEXMIF NCDN FBN1 VSX1 BLOC1S3 ZSWIM6 HPDL MYO9A MBD5 ATAD3A RRAS2 TARS1 PIGY KAT6A RNF113A TUBB3 SNORD116-1 CRB1 MAGEL2 DLK1 CYB5R3 PYCR2 SYT1 KDM6B ADAT3 MYOD1 LGI4 PMM2 APC KIF7 ZEB1 NR2F1 CHMP1A ATP1A2 SATB2 USP7 GBA PIGO PIGT SEC23A TBC1D23 ALG9 OFD1 SON NALCN NDN GTF2E2 GNA14 CPLANE1 GLRB VAMP1 MADD PWRN1 ERCC3 PIGN PDE6D SIAH1 COL13A1 AHCY ERCC2 RNASEH1 SOBP MKRN3 PWAR1 IRF2BPL SLC1A3 MEG3 KAT8 DYRK1A HUWE1 PEX5 PTEN SOST TRIT1 COL11A1 PIGW PUF60 NPAP1 FAM149B1 DDOST ATP1A3 CYB5A SYT2 KIAA0753 LMNB1 CLP1 PHGDH SALL2 SNRPN SLC25A1 TBX1 COL6A3 SLC5A7 GTF2H5 DPP6 ZEB2 LAGE3 KIF21A SNORD115-1 COL8A2 CLCN6 COL6A1 PGAP3 HMGB3 HP_ABNORMAL_MYELOID_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MYELOID_CELL_MORPHOLOGY SLC19A1 MYSM1 DDX41 KIF23 UBA1 HP_EXODEVIATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXODEVIATION RPL10 TAF2 GNB2 ADGRG1 ATRX PRPS1 MRPS34 DYRK1A EFNB1 RERE FBXW11 CRIPT TMEM231 THOC2 KDM1A BCOR SMAD3 RPE65 CDH11 ATP13A2 DPAGT1 AFF4 FBN1 FGFR3 ADARB1 BLOC1S3 HPDL MTRFR LRAT ACADSB WARS2 TGFBR1 MC1R SOX5 TMEM67 PHOX2A HADHA LYRM7 MADD HNRNPH2 OCA2 KDM6B SLC17A5 SH3TC2 FGF10 PAX6 SNRPN SLC25A46 NGLY1 CDC42 NR2F1 RNF2 ATP1A2 ZC4H2 SCO2 SPATA7 SLC35A2 PYROXD1 UBE3A SON LCA5 P4HTM TRAPPC11 GALNT2 RP1L1 WT1 PTRH2 MYF5 FGFR2 SIAH1 ADNP PUF60 HACE1 COL4A1 TGFBR2 SLC6A8 NONO SLC1A3 CACNA1A TUBB3 ATP1A3 SPATA5 SALL2 DNMBP TYR BCORL1 TBX1 EXOC8 KIF21A ADD3 NMNAT1 HP_ABNORMAL_ERYTHROCYTE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ERYTHROCYTE_PHYSIOLOGY RHAG SLC4A1 SPTA1 EPB42 RHCE SPTB ANK1 GYPC SLC4A4 EPB41 PKLR KCNN4 RHD PIEZO1 HBB HP_ABNORMAL_HEMOGLOBIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HEMOGLOBIN_CONCENTRATION CUBN PGK1 SLC4A1 KCNN4 PIEZO1 MADD AMN HP_PERSISTENT_EBV_VIREMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERSISTENT_EBV_VIREMIA CD27 ITK PRKCD IKZF3 PGM3 MAGT1 TET2 LAT HP_HYPOPIGMENTED_MACULE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPIGMENTED_MACULE KRT5 NF1 CDKN2C FANCC KRT14 MEN1 CDKN1A TSC2 CDKN1B TSC1 CDKN2B POFUT1 ABCB6 POGLUT1 EPHB4 PSENEN PLEC RASA1 IFNG NONO HP_ERYTHROCYTE_INCLUSION_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERYTHROCYTE_INCLUSION_BODIES HBA1 FADD HBB GPX1 HBA2 PUS1 RPSA G6PD CASK STIM1 HP_HEINZ_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEINZ_BODIES HBA1 HBB GPX1 HBA2 G6PD CASK HP_UNUSUAL_FUNGAL_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNUSUAL_FUNGAL_INFECTION PIK3CD SLC39A4 KRT1 TRAF3IP2 RAG1 IL12A SDR9C7 ZAP70 NCF1 STK4 IL17RC CYBC1 CYBB ZNF341 IL17RA KNSTRN GATA2 SREBF1 MMEL1 PLCG2 EPG5 DCLRE1C TNPO3 CD247 IL2RG CIITA STAT1 CARMIL2 DOCK8 RAG2 TFRC TNFSF15 CARD9 IRF5 WDR1 STAT3 NCF2 IL17F CYBA MVK RFXANK CD3E PGM3 AP3B1 RFXAP IL12RB1 AIRE POU2AF1 NFKB2 IL7R USP8 RFX5 TYK2 CDH23 IKBKB CD3D IL21R SPIB ADA TGFB1 SP110 CLEC7A JAK3 IL2RA BTD HP_BONE_FRACTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BONE_FRACTURE EXT1 TENT5A KDELR2 MBTPS2 CLCN7 SLC2A2 GNAS FGF23 MTAP SQSTM1 TAPT1 TBCD ANAPC1 MOGS UBA1 GALT EXT2 TNFRSF11A HP_HYPOPLASTIC_DERMOEPIDERMAL_HEMIDESMOSOMES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_DERMOEPIDERMAL_HEMIDESMOSOMES PLEC ITGA6 LAMB3 LAMC2 COL17A1 LAMA3 ITGB4 HP_ABNORMAL_URINE_PROTEIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_PROTEIN_LEVEL WT1 SDHD NUP133 GTF2I WDR73 CFHR3 SIX3 MT-TS1 NOS1AP PRODH MYO1E NUP107 HLA-DPA1 ATP7B GTF2IRD1 NUP37 STAT2 CLCN5 SLC37A4 FGFR1 MT-ND6 NDUFAF6 PEX1 VHL COA8 OFD1 STIL KIRREL1 COL4A3 MT-TK HNF1B WDR19 GLI2 CUBN NUP160 LAMB2 APOE LYZ NOTCH2 LMX1B ZIC2 IER3IP1 STAT4 GLA CTNS MT-TS2 PUS3 SGPL1 ANLN TPRKB HELLPAR TMEM127 SDHB DNASE1L3 HNF4A GBA OCRL FOXC2 TREX1 ERCC8 INF2 SLITRK6 NUP85 RET DNAJB11 ACSL4 COL4A4 SLC2A9 METTL27 GANAB KANK2 TBL2 MAFB MT-TH PAX2 PDSS2 SLC34A1 PTPRO KARS1 WDR4 SDHC PSTPIP1 MIA3 ACP5 C3 MAGI2 MT-TL1 GAPVD1 MT-CO1 SHH SAA1 TBC1D8B DLST COL4A6 CFH TRPC6 APRT GATA3 MAX SPRY2 GALT OSGEP NCF1 PYGL CD46 HLA-DPB1 RFC2 THBD AMMECR1 MT-TE LAGE3 COL4A5 SLC7A7 DNAJC30 GATM GSN TP53RK DDOST DNMT3A DISP1 ITGA8 MT-TW LCAT EMP2 FGF8 SMARCA2 SCARB2 BCL7B SLC12A3 FGA ARHGDIA MT-ND4 PIGA MDH2 AMN PLCE1 CFHR2 SNAP29 PRTN3 CLCNKB FLT1 LMNB2 NEU1 ITGA3 CLIP2 SMARCAL1 MMACHC ACTN4 NPHS1 COQ2 KCNE5 ABHD11 PKD1 NUP93 SH2B1 APOL1 ERCC4 ELN GCK NIPBL EIF4H MT-CO2 MT-TN LAT2 SLC35A1 NPHS2 DAAM2 STX1A CD2AP CRB2 CORIN COQ8B SLC22A12 ZAP70 FN1 IRAK1 STOX1 KCNJ11 MT-ND1 PDX1 MEFV KIF1B NOS3 STAT3 BUD23 CD81 MT-ND5 APOA1 LPIN2 ERCC6 SPP1 LIMK1 CLDN3 COQ6 MTX2 PMM2 BAZ1B NUP205 EHHADH LRP2 MT-CO3 PKD2 BICC1 VPS33A DGKE ADAMTS13 MAF FAN1 INS GTF2IRD2 ALG9 MT-TF SURF1 PTPN22 B2M EPAS1 SDHA CFI FH MT-TQ FKBP6 MYH9 UNC45A CLDN4 VPS37D SARS2 ARHGAP24 SLC25A11 MLXIPL ABCC8 ANKFY1 PRDX1 SDHAF2 CFB G6PC1 TMEM270 CTLA4 NF1 HMOX1 HP_DISTAL_JOINT_LAXITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_JOINT_LAXITY COL13A1 PLOD1 PYROXD1 COL6A2 COMP COL6A3 COL12A1 ALG2 COL6A1 HP_ABNORMAL_HAPTOGLOBIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HAPTOGLOBIN_LEVEL RHD RHAG GATA1 PIGA RHCE UROS HP_ABNORMAL_SARCOMERE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SARCOMERE_MORPHOLOGY FXR1 UNC45B SQSTM1 TNNT1 RYR1 KY TTN LAMA2 ANO5 ACTN2 NOTCH2NLC HP_ABNORMAL_Z_DISC_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_Z_DISC_MORPHOLOGY FXR1 UNC45B SQSTM1 ACTN2 TNNT1 KY HP_SIMPLE_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SIMPLE_EAR DHX16 EXOC2 BICRA SH3PXD2B SMARCD2 DDB1 POR CAPN15 HP_REFLEX_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REFLEX_SEIZURE EFHC1 KCNQ3 GABRG2 CACNB4 SCN1A STXBP1 GABRA1 SCN2A KCTD7 SYNGAP1 CLCN2 CHD2 JRK GABRD SLC9A6 CPA6 SCN9A SCN1B CILK1 PCDH19 HP_MOTOR_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTOR_SEIZURE SEPSECS SLC25A15 PCDH19 SATB1 PIGA BUB1B SLC12A5 SCN9A DNM1L PTPN23 GRN GRIN2A NDE1 SLC25A22 PDHA1 DPM1 ALG13 NSUN2 GRIK2 SCN1A AIMP1 MT-TP WASHC4 SARS1 NBEA HIVEP2 SPTBN1 IER3IP1 GRM7 KDM5B NPRL3 RTN4IP1 UBE4A MFF SCN1B ATXN10 STXBP1 SCN8A GABRG2 UFSP2 NDST1 NEXMIF MT-ND1 CDH15 TSC2 ARHGEF9 SCN2A MT-ND4 PLAGL1 CARS2 KCNA1 MICAL1 COQ5 SIK1 CSNK2B MT-TF SLC6A1 PIGP KATNB1 ZMYND11 TRAPPC9 TRPM3 TRAPPC12 CACNA1A MT-ND2 NGLY1 ATP1A2 CRBN CDKL5 SLC35A2 SLC19A3 SMS CASK TSC1 CACNB4 ALDH5A1 DOCK7 CABP4 AFG3L2 DPM2 WDR45 CACNA1D MED13 PLPBP KCNB1 GLB1 CUX1 HYMAI DNM1 AP2M1 SLC25A10 TSEN2 B3GALNT2 PRRT2 CDH2 KCNT2 UGDH SETBP1 KCNQ3 KCNJ11 CHD2 DLL1 FRRS1L CEP85L ST3GAL3 DMXL2 PURA ARX PPP1R21 MBD5 LGI1 TRIM8 MT-ND5 PRICKLE1 ALG2 PSAT1 SLC9A6 ACTL6B CDC40 PGAP1 GPAA1 SDHAF1 CRH EPB41L1 GRIA2 DEAF1 GBA BRSK2 GCK LINS1 MT-TQ TANGO2 CAMK2B PNKP SRPX2 SMARCA2 DPAGT1 SETD2 MT-TK TAOK1 CILK1 TBCD EFHC1 PDX1 KIRREL3 HNMT STX1B KIF5C ASH1L SYNGAP1 EPM2A RAB11A DEPDC5 COX8A DHX16 KANSL1 PIK3CD NHLRC1 NUS1 DCX GNAO1 CLN5 EEF1A2 GCDH PSAP MICOS13 SLC12A2 KIF1A PRDM8 GRIN2B EHMT1 CAMTA1 SLC45A1 MECP2 PIK3CA SDHB GRIN1 NARS1 EXTL3 SLC1A3 CLN8 BRAT1 TSEN15 SDHA NCDN MT-TS2 CUX2 KNSTRN ABCC8 DALRD3 MT-TI CSNK2A1 EXOC8 TMX2 COG2 CC2D1A CRADD TSEN34 KCNMA1 CAMK2A IQSEC2 BTD CHRNB2 SDHD GAD1 RPL10 CHRNA4 HIBCH FAR1 ATP6AP2 GABRA1 SLC13A5 ASAH1 C12orf4 ZNHIT3 PCDH12 GABBR2 NTRK2 ADGRG1 KCNT1 PHACTR1 TBC1D24 PIGQ MTHFR CLTC ADGRV1 KCNQ5 HEXB APC2 MT-ND3 MED25 CPLX1 PCYT2 GOSR2 DHDDS GABRD ZC3H14 MGAT2 KCNQ2 TECR MED23 MAPK1 RELN MAPK10 MT-TH MYT1L IQSEC1 CHRNA2 LMAN2L KARS1 CLIP1 RNF13 KCTD7 METTL23 CUL3 GALC PRSS12 SETD1B NDUFA1 TUBA8 MT-TW GAMT IFNG ALDH4A1 HK1 DCPS EN1 KDM4B DPYD LONP1 PTEN PIGM NDUFAF8 LNPK ATP1A3 ACSF3 TTC5 FBXO31 ELOVL4 FOXG1 RSRC1 NPRL2 MFSD8 ALDH7A1 TGFB1 GUF1 JRK EZR OPHN1 MAN1B1 DHX37 MT-RNR1 UBE3A AP3D1 PLCB1 EDC3 MMACHC CHAMP1 MT-ATP6 PIGT NSD1 TMEM231 NTNG1 NEUROD2 GABRA5 FMN2 CNPY3 CLCN2 CIC NEU1 ALKBH8 CACNG2 SMARCAL1 PAFAH1B1 SLC2A1 SQOR SPTAN1 STAT3 TNIK SMC1A AKT3 MT-TL1 MT-TS1 HCN2 PYCR2 GABRB3 PIGC CLCN4 HACE1 ALG14 PI4KA MBOAT7 INS EXOC7 PTRH2 HCN1 VPS53 RALGAPA1 SET MT-ND6 RNU4ATAC SLC1A4 TCF4 PPIL1 DYRK1A MED12L TRIT1 CDK19 DOCK8 FBLN1 NSF SPATA5 MT-TV SAMD12 COX4I1 PPP3CA PHGDH TSEN54 STRADA TUSC3 DYNC1H1 NEMF HP_CLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLONIC_SEIZURE GABRG2 SCN1A DMXL2 GNAO1 SATB1 SLC12A5 SCN2A LGI1 TRIM8 GABRA1 CDKL5 GRIN2A CASK PCDH19 SCN1B ARX PSAP KCNQ2 GRIA2 TBC1D24 PIGQ NEUROD2 DPM2 SIK1 SPTBN1 PNKP KCNQ3 STXBP1 SCN8A KANSL1 SRPX2 SMARCAL1 SCN9A PRRT2 ACSF3 KIF5C FRRS1L KCNA1 MICAL1 PIGP RELN SLC25A22 HP_DECEREBRATE_RIGIDITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECEREBRATE_RIGIDITY GALC PSAP ASPA ARSA GLB1 HP_ABNORMAL_VASCULAR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VASCULAR_MORPHOLOGY PPARG ATP7A A2ML1 COL1A1 CCDC32 NF1 NRAS MGP LEMD3 ENG BUB1B FAT4 DNAH1 PRKG1 GAA KMT2D HPGD PTPN22 FANCB AGXT HEXA RAB23 KANSL1 FOS NDP WDFY3 GLI2 ERCC8 IGFBP7 ARSL MYH7 DHCR24 ERCC2 MYRF NAA10 GATA1 GALNT3 AGPAT2 GATA5 FAS CBL SPEN CTSA MAP2K1 SMAD3 KRAS ABCC6 ZEB2 RBM8A SEC63 SOS2 IFIH1 FLNB SAMHD1 AKT1 ELN COG4 MRPS16 HGD SC5D NKX2-5 TREX1 CFI DNAJB11 RPS15A CSGALNACT1 NXN NOTCH1 LMNA KCNMA1 SOS1 RPS27 ACVRL1 ERCC4 PDGFRB CRTAP MYLK ERCC3 HUWE1 CCDC39 PIGN FIG4 ZIC2 NOTCH3 DIS3L2 MKS1 CDON RBP4 PRKCZ ACTB TMTC3 SUCLG1 TDGF1 SHH TMEM67 SIK3 SALL4 RSPRY1 STXBP1 LARS2 RET CALM3 VAC14 ZNF699 TSC2 CTCF ROR2 SFTPB MEG3 GPC3 TRIP11 HOXA1 PLD1 UQCRFS1 WAS EXT2 PQBP1 MT-ATP6 PROC PIK3CA GJA5 RPS29 RPS10 GAS8 NCF1 MEGF8 HYMAI GUSB GBA APP HNRNPK IL6 RRAS2 ERAP1 LIPA AMMECR1 AEBP1 FLT4 TNXB UBE2A BCL7B DNAH5 PTEN RPS24 NFKB1 PRPF3 GATA6 CACNA1C SMAD4 JARID2 PKP2 BICRA ARID2 RERE B3GAT3 NFKB2 BUB1 COMT COL5A1 IL23R RSPH4A ZMIZ1 NEU1 SLC2A10 BRCA2 C12orf57 YY1AP1 GDF1 DNAH9 SRCAP NSD1 MPL MAX ANTXR1 ARID1B NADSYN1 CYP1B1 EIF4H LMX1B TTC12 PACS1 HRAS GHR PTCH1 CITED2 POLR1A NONO JAG1 SVBP RRAS TMEM94 AFF4 MT-ND6 TANC2 PPP2R1A CCDC65 FGFR1 LDLRAP1 MED13L MED27 TBX5 MT-CYB BPTF POLR1B FLNA APOE BUD23 ALX4 THSD1 ARFGEF2 LRRC56 KAT6A GJC2 ABCG5 EIF2AK4 FBN1 MEFV HIRA STAG2 SLC39A13 DACT1 CLDN3 RPS26 CYP7A1 RNF213 TBX1 NPHP3 STAT3 FOXH1 IL10 XYLT2 TBX4 BAP1 HSPG2 DLL4 SMAD6 BCL11B JAK2 EHMT1 SMG9 ODAD3 SMPD1 ZMPSTE24 AMER1 ADAMTS10 PIGO DISP1 DNAAF3 DOCK3 QRICH1 ADAT3 ATP6V1E1 XYLT1 NT5E POLR1C PHGDH SDHD SOX2 IGF2 GNAQ NEK9 CRELD1 ERMARD TAB2 CEP57 BRCA1 TMEM270 SLC20A2 WT1 SATB1 PRDM6 G6PC3 PDPN CXCR4 KYNU KIF1B CHRM3 RAD51C RPS28 RPL10 GAS1 BUB3 NLRP3 MYD88 STRA6 HIBCH RIT1 LCAT UBAC2 BMP2 ODAD2 FBLN5 POLR3A RIPPLY2 RPL18 FOXC1 PEX1 SLC25A24 ESCO2 RAF1 ENPP1 FADD ICOS BCOR VHL CHRNG CD81 BEST1 WDR19 ESS2 PRKCSH APOA2 HEXB C4A LIPC ADA2 NOTCH2 CSF2RB IDS MESP2 ZIC3 GLI3 IFT43 SMC3 TCOF1 TELO2 SLX4 ABL1 SIX3 ATP6V0A2 ALX1 TKT CHST3 TEK GGCX CCNO TNFSF11 DRC1 ZFPM2 FOXC2 FGFR3 MGAT2 GMPPB TGIF1 MASP1 PIEZO1 FTO EED DLL1 EFEMP2 METTL27 TGFBR1 COL4A1 TLR4 PIGL CLCN7 MFAP5 PSMD12 CD19 SPEF2 FARSB TSC1 HS2ST1 ACP5 PPP1R15B SLC34A2 SOX10 WDPCP UBE3B PUS7 SON CAT CBS PNP LOX UMPS PLOD1 NEK1 NDUFB11 SPECC1L SH3PXD2B IFNG CDC42 MT-ND1 LUZP1 B2M RLIM PEX12 ACTL6A BMPR2 RFC2 MAPK8IP3 FASLG ACVR2B RSPH1 ANK1 UBE2T ZNF687 TTC37 B3GLCT FZD4 CRKL RAD51 NME8 ALG3 ALG12 ODAD4 GATA4 DDX6 PGM3 MAP1B TGFB3 ARID1A TGFBR2 PRTN3 PRKACB RNASEH2C CFAP53 CLCNKB NODAL RPL5 RASGRP1 COX7B CLIP2 SMARCAL1 THOC6 MYOC ABCG8 FANCE KCNE5 WNT4 ABHD11 PKD1 NID1 PKD1L1 RNASEH2A PIGT DGCR2 KDM6A CASP10 SMARCE1 COL3A1 FANCI CCBE1 EPHB4 CR2 DNAAF1 MBTPS2 STX1A GJA8 CCDC22 TRIP12 CREBBP HLA-B SAMD9 FANCD2 TMEM260 SNRPB RPS19 HES7 DNMT3A SPAG1 SMARCA4 FANCL MED12 SMC1A MT-ND4 NKAP MAPK1 PDCD10 OFD1 DNAL1 SIX6 MMP14 GAS2L2 PIGY SKIV2L RPL11 SMAD2 ABCC9 DPYSL5 ALMS1 PKD2 BICC1 DNAAF6 TNFSF12 IL12A WIPF1 VPS33A ALG9 UFD1 MED13 RNU4ATAC THPO MRAS SCN10A MAF EXT1 FBN2 LDLR KCNN3 UNC45B LZTR1 MAT2A MT-CO3 CCDC40 FGF8 GTF2IRD2 GP1BB PEX19 FMR1 PDGFB SKI POU3F4 PLXND1 CHD4 PTDSS1 DOCK6 VPS37D BRF1 KRIT1 PCNT FKTN PLOD3 GPC6 CSF2RA GM2A MYH11 TRIP4 GLMN PTH1R BGN STK36 KAT6B KMT2E NR2F2 GTF2I B3GALT6 LFNG CFAP221 KCNJ8 HLA-DPA1 WRN ALX3 KIF5A MYCN TNFRSF13B RTL1 DDX59 SELENOI MMP23B CCR1 MCTP2 C2CD3 CRB2 UBR7 TGFB2 CAVIN1 SPTBN1 ARF1 DNAJB13 BANF1 P4HA2 DARS1 ACTA2 WDR37 GRIA4 ADK SERPIND1 SOX18 PLAGL1 ODAD1 ACTL6B TBL2 GPC4 RFWD3 RSPH3 HEY2 EP300 PYCR1 NKX2-6 MEIS2 CWC27 ALDH18A1 OTUD5 ABCA1 TRAIP FGFR2 CARS1 IGBP1 SLC35A2 TFAP2B PTPN23 BRAF RPS20 PORCN NPC1 VEGFC GUCY1A1 NFIX COL1A2 F12 FOXF1 DOCK8 PPP1CB DNAH11 CCM2 STAT4 DVL3 COL18A1 MNX1 DPM1 HPDL RPL26 HCCS SMARCC2 TGFBR3 PUF60 DNAJC30 SALL1 BCORL1 NPC2 NEDD4L CDH2 KDM4B BCR ATP6V1A ADH5 COL5A2 FKBP14 TPM3 CHD7 UBA1 ADAR RPGR PRKCD AGO2 NEK8 TLL1 TALDO1 CCNQ BRCC3 SEC24C TPM2 PTPN11 ERCC5 RPL27 POLR1D TBX20 EIF2AK3 INTU JMJD1C DNAAF2 DYRK1A WASF1 UBR1 TRAF7 ANGPTL6 CD244 CIITA SLC29A3 ASCC1 SEC61A1 DNAAF4 NPPA RIN2 SCN9A PBX1 GJA1 FANCA CELSR1 RPL15 DHCR7 NOD2 SETD2 UBE4B TP63 MYH3 ESR1 RASA1 STIL TULP1 TSFM DNAI1 NEK10 CEP19 CNOT3 PIK3CD TCF20 DYRK1B AASS BSCL2 ADAMTSL1 FGF10 TBC1D24 ARL6IP6 ABCD4 SLC22A4 KAT8 RPL31 MMP21 MSX2 CEP120 RBM10 ALG8 ZNF462 USP9X TONSL MS4A1 FANCF WAC USP18 ARVCF PAM16 SRY MYOCD RREB1 TRMT1 WASHC5 TRAPPC4 CTLA4 PSAP RPS17 CDK8 FBXW11 MMP2 SOX11 SUFU MADD FIBP TENT5A MYT1L ARHGAP31 RBPJ EOGT PRKAR1A GTF2IRD1 KNSTRN FOXE3 NTNG1 LRP5 RSPO2 COA6 RPL35 APOB KLRC4 RPL35A GLB1 OTULIN PCSK9 MT-ND4L SLC12A2 DNASE1L3 GPR35 SNX14 EPHX2 TSR2 ROBO4 RAC1 APC2 COQ4 DPF2 ACSL4 SNX10 SYK GANAB SEMA3E APOA5 MLX DGCR8 ATP6V1B2 SSR4 SMARCB1 ZNF148 NSMCE2 WDR26 XRCC2 TBX2 DLL3 RYR2 TCF4 HDAC4 GALC MYPN SHANK3 TMCO1 HLA-DRB1 PLCB3 RNASEH2B ECE1 MARS2 ADAMTS3 ARPC1B ANKS6 IL12A-AS1 SMARCA2 MPI ALB TGDS COG6 HLA-DPB1 FANCC SEMA4D SCN11A PAH POLA1 GDF2 SMARCD1 CHUK SLC12A3 MED25 DNAAF11 CFAP298 CYP27A1 HYDIN MAD2L2 LEMD2 PALS1 SOX4 KDELR2 RAI1 LIFR NFKBIL1 ASAH1 SMOC1 SH2D1A KCNJ5 PCGF2 MT-ND5 WDR35 MCIDAS DYNC2LI1 TMEM231 KCNH1 NCAPG2 HTRA1 LAT2 KCNAB2 SDHB CFAP300 IL12RB1 FOXJ1 AGGF1 MLXIPL IL12B RPS7 ZMYND10 DGCR6 STAT1 LIMK1 TRRAP SF3B4 BAZ1B DNAI2 ERCC6 TMEM127 KDM3B PNPLA2 CASZ1 SNRPN HYOU1 ARX RSPH9 PRDM16 MST1 NTNG2 PPP1R17 LTBP4 TNFRSF13C CCDC103 FLI1 CAV1 BMPR1A DDX11 PROS1 CD96 TCIRG1 MKKS FKBP6 DNAAF5 CLDN4 RASA2 HTT TRIP13 FANCG MVK CTU2 NDE1 CFC1 TNRC6B DTNA XIAP BRIP1 MT-ND2 MAP3K7 SMG8 GABRD DLK1 PIK3R2 FANCM PALB2 TNFRSF1A HP_ARTERIAL_RUPTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTERIAL_RUPTURE PLOD1 COL3A1 COL1A1 COL1A2 COL5A2 PLOD3 FKBP14 COL5A1 HP_ABNORMAL_ERYTHROCYTE_SEDIMENTATION_RATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ERYTHROCYTE_SEDIMENTATION_RATE PTPN2 CASP10 SLC22A4 STING1 IL2RB PRTN3 NLRP3 MYD88 NFKBIL1 HLA-DPA1 IFNGR1 ANKRD55 PTPN22 MVK HLA-DRB1 MEFV IL1RN CD244 IL6 CIITA TNFRSF1A IL2RA ARPC1B SLC29A3 ADA2 IL37 STAT4 IL10 LPIN2 CD247 HLA-DPB1 P4HA2 NLRP12 NOD2 MTTP IRAK1 PSMB4 PSMB9 ITK TREX1 POMP HLA-B UBA1 CTLA4 TGFB1 PRKCD MIF PSMB8 SPP1 COPA LACC1 HP_ABNORMALITY_OF_DIGESTIVE_SYSTEM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_DIGESTIVE_SYSTEM_MORPHOLOGY COL1A1 NEUROG3 SATB1 ABCB1 BUB1B CCDC47 FAT4 KMT2D VPS51 FANCB SMAD4 MIR17HG KANSL1 LAMB3 MT-TK SLC6A8 MBTPS2 STN1 APC CEP41 PIK3CA MYRF SPEN MT-TS2 SIX3 ZEB2 GJB2 SIN3A PEX12 BACH2 EYA1 INPP5E NXN FGF8 ACVRL1 PHOX2B TWNK CHST14 ENG PROKR2 CCDC39 PIGN SEMA3C FIG4 ITGB4 DIS3L2 CDON GLI2 PRKCZ CHEK2 PARN SYP TDGF1 SALL4 DLG3 VAC14 HNRNPU RFWD3 SRP54 BMPR1A MED12 IKZF3 EHMT1 AK2 MSH2 PQBP1 GLIS3 RPS29 RPS10 LMOD1 GAS8 NCF1 TMEM237 ATP7A TGFB1 MT-TE EDN3 CDKN2A PPOX UROD HNRNPK KCNN4 GATA6 KIT ERAP1 LIPA SETBP1 SOX3 MDM2 PTCH1 RPS24 CHN1 CNKSR2 RRM2B CEACAM6 BICRA RERE AHI1 RSPH4A SDHC SLC2A10 DCHS1 POR TP53 PLG FAH WDR35 DMPK POLD1 PGAP2 CDKN1B SRCAP TRMT5 GBA ELN RPS6KA3 NODAL SOX10 MYO5B EIF4H TTC7A PACS1 KIFBP ITCH NTHL1 CDH11 CFTR MGMT FOXE1 FLNA BRD4 MEFV CISD2 HIRA DACT1 CLDN3 ATN1 MLH1 TBX1 NPHP3 ODC1 ACOX2 MUTYH FOXH1 IL10 SHH HSPG2 DLL4 DZIP1L FERMT1 NUP133 FKTN DISP1 DNAAF3 IRF5 SATB2 USP9X SUFU RAPSN NOTCH1 POLR1C SREBF1 MTTP ISL1 UNC45A CDKN1A POFUT1 RTL1 CAV1 IL10RB FAS CEP57 TMEM270 TGIF1 RFXAP IL2RA RAD51C UBR1 RPS28 TRAPPC11 GAS1 BUB3 MYD88 MEOX1 ODAD2 PTEN RPL18 DNMT3B STX3 SLC25A24 ICOS BCOR CD81 C4A ZNF81 GLI3 ZIC2 KRT8 TCOF1 SDHB TMEM216 SLX4 TMPRSS6 CBLIF CCNO MID1 DRC1 FGFR1 RRAS2 SNAI2 PAK3 CEP104 NCF2 TEK CLMP DLL1 METTL27 ARID1B SLC5A1 EDNRB CD19 GLA ATP8B1 PPP1R12A PDGFRA IL2RB UBE3B PEX5 ACTG2 IL21 CBS MT-CO1 RPS20 CARMIL2 SLC39A4 SLC37A4 SUZ12 TFAP2A GDNF ADAM17 MMP1 FLNB MCM6 DNAJC21 RFC2 UPB1 PIGW RSPH1 NCF4 LAGE3 AIRE UBE2T TTC37 B3GLCT MTRFR COL7A1 CRKL NME8 AR RBM8A VANGL1 DDX6 TGFB3 NFKB1 PRTN3 SI SERPINA1 SLC18A3 ARHGEF6 HLA-B SERPING1 RASGRP1 CLIP2 TNPO3 COG8 RHBDF2 RMRP ERCC2 EFTUD2 SPINK1 ELANE PIGT LETM1 CTRC CASP10 MSH6 HESX1 EP300 EGFR SAMD9 RPS19 BUB1 CPLANE1 FANCL KATNIP MAPK1 KAT6A KRT18 RNF6 PLCG2 AP1S1 BRAF ALG6 SIX6 GAS2L2 EPCAM RPL11 TMEM67 TCF4 HLA-DRB1 TNFSF12 WIPF1 ALG9 PMS1 IL1RAPL1 DDX59 POGLUT1 ABCB11 GDF3 SMC3 CCDC40 SMC1A TGFBR2 GP1BB IL37 FGFR2 ATRX DYNC2H1 TCF3 BLM PHGDH NPHP1 PPP2R3C RET SPIB FANCD2 LARGE1 STK36 HMGA2 GTF2I FCHO1 CFAP221 MSR1 HLA-DPA1 ATP7B ARL6 MYCN TNFRSF13B TERT DDB1 CCR1 C2CD3 EFL1 ARF1 DNAJB13 FRMPD4 CDH1 PMS2 DMP1 PTCHD1 FREM2 CDK4 COX7B ABCB4 ODAD1 LBR GPC4 FREM1 CIITA AXIN2 ZNF423 KRAS STRA6 SLC6A5 OTUD5 PEX16 GCLC FLCN MT-TL1 SAA1 ACADVL DKC1 TERF2IP FOXF1 MADD DNAH11 STAT4 DVL3 MNX1 CEP120 HCCS COL4A5 COL3A1 TET2 NFKB2 DNAJC30 SALL1 NEDD4L TP53RK CHD7 DMD DCTN4 TYR PSTPIP1 RECQL4 SEC24C SPECC1L SOX2 RPL27 POLR1D KIAA0586 DYRK1A RAB39B STAT1 GSTM3 PNLIP ALG13 DNAAF4 MECP2 FOXP3 FANCA SHPK STK11 ZAP70 NPHS1 DHCR7 UBE4B CEP290 PIBF1 PIEZO2 CYBA CREBBP IQSEC2 LRP2 B9D1 ABCC2 SMAD7 ALDH18A1 MPI MASP2 LRBA PEX2 ASCL1 MMP21 FAN1 WNT3 MEG3 MS4A1 SLC11A1 FANCF GNAS ESCO2 CSPP1 HPGD WAC XRCC4 ARVCF MYC PKHD1 NAA10 CTLA4 CTC1 LRRC56 EXT2 PLEC PSPH RNF43 LONP1 MT-TS1 MAFB RBPJ CCNQ GTF2IRD1 KIF7 SPINK5 TBX3 NUP88 RPL35 TERC TWIST2 RPL35A LMX1B DYNC2I1 L1CAM NEK9 PGM3 NDUFB11 CCDC28B RAC2 PITX2 ADAMTSL2 DYNC2I2 TPRKB PIGY RFX5 NRAS RFXANK MT-TH GREM1 XRCC2 STAG2 BAP1 MIF CYBB POT1 NLRC4 CTNNB1 AMER1 GATA1 NOP10 ATP2A2 ECE1 TJP2 ALAD ADAMTS3 ARPC1B IL12A-AS1 ZMPSTE24 CEACAM3 DSE COL5A1 YY1 JAK2 CYBC1 RAD54B HLA-DPB1 FANCC SEMA4D PAH LAMA3 SLC2A2 GDF2 MKS1 IFT43 MT-ND4 HYDIN PLVAP MAD2L2 SEMA3E GDF6 IL6 BIN1 FOXC1 AAGAB MCIDAS CDKN2B POLG ITGA6 RABL3 COX4I2 TLR2 ALG3 LAT2 SEMA3D NBN HSPA9 CFAP300 JAK1 STS STAT5B FOXJ1 MT-ND1 MCC CAVIN1 CHRM3 RPS7 MSH3 WFS1 POMT2 TSPAN7 CD55 STXBP2 RTEL1 NEFH LIMK1 GPIHBP1 FRAS1 ARHGAP31 DNAI2 CCBE1 RYR1 MMEL1 LIG4 RSPH9 MST1 LTBP4 TNFRSF13C WNT7A USB1 MLH3 FLI1 ALG12 POLE PTPN22 PRKCD MEN1 LMNA FANCG HCFC1 BRIP1 GABRD SMO ACD FANCM HSD3B7 PALB2 TNFRSF1A CC2D2A WNT4 SH3KBP1 C1R MKKS INAVA STX1A MT-ND6 GJB6 MAMLD1 ERBB2 WNT2B TNRC6B CBL PPP2R5D TNXB HPS1 CENPF PEX3 SMAD3 BAAT GPHN KLF6 SLC6A14 STAT3 RPS27 ERCC4 SLC46A1 TCTN1 GRIP1 PHKG2 TMTC3 SEMA4A CPOX STXBP1 ITGB2 ZNF699 DLEC1 ROR2 GPC3 RARB LZTS1 WAS FKRP LAMC2 BRCA1 DCC OSGEP BTK GLRA1 MYO1H MYOD1 PDGFRB PIK3C2A CD79A PEX19 MT-TW OTC MTM1 PSENEN CD96 BCL7B DNAH5 GREB1L MYLK ACSL4 EDNRA ZNF711 MYH11 MID2 COMT SOCS1 IL23R BRCA2 RAD51 FCN3 IGLL1 CDC45 DNAH9 JAK3 F5 ADAMTS2 VWF TTC12 HRAS USP27X NEK1 DOCK8 FUZ BCL10 CCDC65 FH POLR1B BUD23 ARFGEF2 SDHD DPYS LPIN2 SIX1 MITF RIPK1 BDNF DHCR24 CCN2 ODAD3 PIGO SETD5 MT-TF TBCE CLCN4 CDKN2C PERCC1 PAX3 ERMARD SLC6A19 PDPN CXCR4 KMT2C ASXL1 SAR1B KEAP1 UBAC2 PIGL SLCO2A1 FBLN5 ARMC9 PRSS1 HELLS CHRNG CD3G SBDS PEX26 SERPINH1 OPLAH ZNF41 AKR1D1 ATAD1 FGFR3 EMC1 RTTN IDS ZIC3 ABL1 IFT80 FTSJ1 PIEZO1 EFEMP2 MYF6 TLR4 SPEF2 FARSB CDCA7 HMBS NOTCH3 WT1 TNFSF15 LUZP1 B2M RPS26 SLC7A7 IKZF1 IL1RN GBE1 NOTCH2 USF3 ODAD4 SEC23B MAP1B SRC AURKA ZPR1 DNAH1 FANCE ABHD11 DOK7 ZBTB24 NSD1 NHP2 IL1B COL14A1 FANCI MT-CO2 KDM6A CR2 DNAAF1 CTNND1 IL12RB1 NRTN SNRPB SPAG1 CCR6 HMOX1 DNAL1 SKIV2L MTOR WDR73 MUSK RPGRIP1L STEEP1 MT-CO3 TP63 OTX2 DNAAF6 IL12A DNM2 UFD1 EXT1 RIPK4 IRF1 IGHM DICER1 PTPN12 POMT1 WRAP53 AKT1 GTF2IRD2 CLTRN SLC9A3 TMEM231 POU2AF1 CHD4 PTDSS1 DOCK6 ERBB3 VPS37D FASLG RELA PCSK1 OFD1 F13B CTHRC1 PLA2G2A TCTN3 HABP2 GLMN TREX1 PKP1 PEX6 HDAC8 ARNT2 UROS ADA2 HNF1B HOXD13 MMP23B PTF1A RSPO2 TNFAIP3 F13A1 IVNS1ABP SH2B1 SLC9A7 ANTXR2 PTPRJ ALG1 EWSR1 SDHA INSR PEX10 CCND1 DLC1 ARX ARL13B RFX6 TBL2 RSPH3 CBY1 ARL3 KLLN PIK3CD WDR4 SLC12A2 ASCC1 PORCN BBS1 NOD2 SLC26A9 ALMS1 FCGR2A PALLD FGFRL1 CPLX1 COL18A1 SPINT2 MC1R TINF2 RPL26 TYMP BCR COL5A2 ZFPM2 POLA1 RPGR OCRL MTMR14 RAD21 ENPP1 SLC10A2 XIAP HFE HLA-DQB1 PET117 TMEM138 JMJD1C DNAAF2 IARS1 TCTN2 PHKA2 GDI1 SLC29A3 WBP11 DLK1 NIPBL PRF1 NUP107 RUNX1 SLC30A10 NSUN2 RPL15 SETD2 MYH3 ABCD1 STIL CCDC22 DNAI1 MINPP1 ITGA8 NEK10 F12 TGFB2 PDGFRL PLA2G4A PTCH2 KRT5 FBN2 CLCA4 RPL31 UPF3B RBM10 ALG8 LEMD3 PEX14 MT-TQ PRSS2 CAPN15 AGA ACTA2 RREB1 WASHC5 AMACR RPS17 CDK8 TENT5A RPS15A EOGT WWOX PEX1 KLRC4 HYLS1 NSD2 PIGV DHODH EXTL3 SRSF2 AGTR2 GPR35 TSR2 APC2 SYK HDAC4 STX11 TWIST1 FGF20 RPL5 CYP7B1 LRRC8A COL4A6 AP1B1 INTU LCT COG6 PRKAR1A GLRB PIK3R1 NPM1 IRGM SLC51B DNAAF11 CFAP298 SMARCD1 PGAP3 IL10RA KDELR2 CTBP1 PEX11B KIF3B UNC13D CD79B GUCY2C KCNAB2 SON ASXL3 SMARCAL1 DGAT1 MLXIPL KITLG ZMYND10 TGFBR1 MT-ND5 SKI SF3B4 BAZ1B BLNK BAX KDM3B CASZ1 HYOU1 PRDM16 PEX13 CCDC103 THOC6 HLA-DQA1 FKBP6 DNAAF5 CLDN4 PTRH2 TRIP13 MVK CFC1 CARD8 MAP3K7 PKD1 HP_ABNORMAL_BRAIN_LACTATE_LEVEL_BY_MRS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRAIN_LACTATE_LEVEL_BY_MRS HSD17B10 SUCLG1 SDHB MT-TS1 MT-TS2 MT-TQ MT-CO3 MT-TL1 DNM1L MT-ND6 NDUFB8 HPDL SCO2 SURF1 MT-CO1 MT-ND1 COG8 MT-TW MTRFR SQOR COX16 NDUFS2 MT-ND5 KARS1 MT-TH CYP27A1 MT-ND4 NDUFAF3 MT-TF MT-CO2 HP_ABNORMAL_BRAIN_CHOLINE_LEVEL_BY_MRS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRAIN_CHOLINE_LEVEL_BY_MRS GRM7 PSAP CNP GALC CYP27A1 NGLY1 HP_ABNORMAL_BRAIN_N_ACETYL_ASPARTATE_LEVEL_BY_MRS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRAIN_N_ACETYL_ASPARTATE_LEVEL_BY_MRS GRM7 PSAP CNP GALC SLC35A2 ASPA CACNA1G SDHAF1 NGLY1 TBCK SDHD HP_ABNORMALITY_OF_OLFACTORY_LOBE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_OLFACTORY_LOBE_MORPHOLOGY ANOS1 SOX10 EDN3 PIGA PEX1 MITF MKS1 EDNRB HP_ABNORMAL_MEAN_CORPUSCULAR_VOLUME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MEAN_CORPUSCULAR_VOLUME MTRR RPS28 RPL11 NHLRC2 TET2 SPTB RPS15A HBB RPL27 ABCB6 GLRX5 ADA2 RPL18 RPL5 RHAG RPS20 MMADHC RPL31 TRNT1 RPL35 RPL35A RPS7 STEAP3 SLC25A38 SLC11A2 RPS29 LPIN2 RPS10 GATA1 RPS26 ANKRD11 DNAJC21 RPS24 RPL26 KIF23 KCNN4 CBLIF PIEZO1 RPL15 SLC4A1 EFL1 TSR2 RPS19 SAMD9 SBDS SRP54 RPS17 RPS27 SAMD9L MDM4 HP_DECREASED_MEAN_CORPUSCULAR_VOLUME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_MEAN_CORPUSCULAR_VOLUME HBB LPIN2 NHLRC2 SPTB TRNT1 GLRX5 SLC4A1 STEAP3 SLC25A38 SLC11A2 HP_INCOMITANT_STRABISMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCOMITANT_STRABISMUS PALS1 JARID2 MYT1L KMT2E ZMIZ1 CCDC32 HUWE1 KAT8 DPYSL5 HS2ST1 SALL1 BPTF CCNQ PUS7 DDX6 PTPN23 CREBBP MED13 UBR7 WASF1 NTNG1 NTNG2 PIEZO2 WDFY3 HOXA1 CSPP1 DOCK3 CHN1 RLIM ACTL6A KIAA0586 MAPK8IP3 TRIP12 HPDL SLC12A2 SVBP TANC2 HTT DNM1L MED27 BCORL1 GRIA4 KDM4B TNRC6B PSMD12 SALL4 TRMT1 EP300 CNOT3 TRAPPC4 ACTL6B ACKR3 OPA1 KCNMA1 SATB1 MN1 FBXW11 AGO2 ARX TCF20 MADD HP_ABNORMAL_QRS_COMPLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_QRS_COMPLEX JUP GDF1 DMPK PRKAG2 SVIL TMEM43 MED13L HP_ORTHOKERATOTIC_HYPERKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORTHOKERATOTIC_HYPERKERATOSIS CFTR RSPO1 SULT2B1 SERPINB7 DSG1 HP_ABNORMAL_CUTANEOUS_ELASTIC_FIBER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CUTANEOUS_ELASTIC_FIBER_MORPHOLOGY EFEMP2 ATP6V1E1 ATP6V1A ATP6V0A2 FBLN5 CYP26C1 HP_FOLLICULITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOLLICULITIS XIAP KRT17 IL10RA IL17RA IVNS1ABP MBTPS2 IL10RB HP_BLOODY_DIARRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLOODY_DIARRHEA ITGA2B ADAM17 ACVRL1 HPS1 SKIV2L IL10RA APC GREM1 ENG GP1BA CDKN2C KIF23 SMAD4 BMPR1A MEN1 F5 CDKN1A EGFR SREBF1 TTC37 WIPF1 ATRX WAS CD109 CDKN2B CDKN1B ITGB3 CARD8 TTC7A DAXX GP1BB ITGA2 PTEN TGFB1 PLVAP IL37 HP_EPIDERMAL_ACANTHOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPIDERMAL_ACANTHOSIS JUP KRT13 SMARCAD1 DSP CARD14 NLRP1 ALOX12B ALOXE3 KRT1 TGM1 CAST CERS3 POGLUT1 ENPP1 ATP2A2 CLDN1 PERP SERPINB8 SERPINB7 KRT6C GJA1 SLC27A4 DSG1 AKT1 EXPH5 KDSR LIPN WNT10A IL1RN CIB1 GJB3 AAGAB KRT10 DSC3 NIPAL4 IL36RN CYP4F22 COL14A1 MBTPS2 CSTA EGFR GRHL2 HP_EYELID_MYOCLONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EYELID_MYOCLONUS RORA KDM5B STXBP1 MED12L CUX1 CIC EEF1A2 MBD5 RORB KIF1A DOCK8 CDH15 CACNG2 TAOK1 GRIN2B KIRREL3 PPP3CA DHFR CHAMP1 EPB41L1 ASAH1 ASH1L SYNGAP1 DEAF1 RAB11A BRSK2 CSNK2B GRIN1 CLTC ZMYND11 TRPM3 DYNC1H1 SET DLL1 KCNQ5 NBEA MYT1L HIVEP2 CAMK2B SLC6A1 SETD1B CAMK2A TCF4 HP_DYSGENESIS_OF_THE_HIPPOCAMPUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSGENESIS_OF_THE_HIPPOCAMPUS GABRG2 RAD51 KDM4B DNAL4 STXBP1 GABRA1 SCN2A DPYSL5 SCN1A TUBB3 DCC NTN1 SCN9A SCN1B PCDH19 HP_CAPILLARY_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CAPILLARY_MALFORMATION NF1 BAZ1B MTOR GTF2I DIS3L2 TEK GTF2IRD1 H19 DVL1 KCNQ1 DVL3 CLIP2 ABHD11 EIF2AK4 PIK3CA ROR2 CDK10 MYOC ELN RASA1 PUF60 GTF2IRD2 KCNQ1OT1 LTBP2 GNAQ EIF4H LAT2 STX1A NCF1 SMC3 IGF2 RFC2 WNT5A TRIM37 FKBP6 ASXL1 KRAS CDKN1C CYP1B1 RBM8A CLDN4 DNAJC30 VPS37D MLXIPL EPHB4 BUD23 FZD2 EDEM3 TMEM270 NXN METTL27 BCL7B TBL2 NEK9 PLP1 NOTCH1 MED25 LIMK1 CLDN3 TGFB3 NAA10 FGFR1 HP_SOUND_SENSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOUND_SENSITIVITY BAZ1B LAT2 STX1A NCF1 GTF2I SLC1A3 MFF RFC2 TNF FKBP6 GTF2IRD1 CLDN4 RAI1 DNAJC30 DEAF1 VPS37D CLIP2 ELN CREBBP MLXIPL EDNRA ABHD11 FLII BUD23 GM2A ESR1 AUTS2 EP300 TMEM270 METTL27 BCL7B TBL2 GTF2IRD2 LIMK1 IQSEC2 CLDN3 EIF4H HP_HYPERGRANULOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERGRANULOSIS LIPN WNT10A DSG1 CARD14 ALOX12B GJB3 ALOXE3 SDR9C7 AAGAB CERS3 POGLUT1 ENPP1 PNPLA1 ATP2A2 LORICRIN COL14A1 SERPINB7 GJA1 HP_FETAL_DISTRESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FETAL_DISTRESS NDUFS3 NDUFS1 PLPBP ABCC6 NDUFB11 NDUFS2 ENPP1 NDUFAF8 RPL11 NDUFA6 NDUFA11 NDUFB10 ATAD3A ATP8B1 MT-ND3 OSTM1 NDUFAF3 NDUFAF4 SLC13A5 SON AFF2 NDUFS6 NDUFV1 MT-ND1 SPEN MT-ND2 NDUFB9 NDUFS7 NDUFAF5 IKZF1 EMC10 ALDH7A1 IL1RN NDUFA1 NDUFS4 NDUFAF2 NDUFV2 CTCF NDUFS8 TIMMDC1 NDUFAF1 NDUFB3 ABCB4 TMEM126B SLC6A9 FOXRED1 NUBPL HP_FINGER_SWELLING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FINGER_SWELLING PSMB8 MMP2 PSMB4 PSMB9 OCRL TRAPPC2 HP_ABNORMAL_CIRCULATING_ESTROGEN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_ESTROGEN_LEVEL GATA4 PDGFB FSHR LARS2 TERT XRCC2 AR POLR3A BNC1 BAP1 GNRH1 DHH NUP107 CYB5A SOX9 TP53 SMARCB1 POLR3H WT1 NR5A1 LEP SPIDR ZFPM2 WWOX LEPR BMP15 AKT1 TRAF7 CTDP1 MRPS22 FOXL2 POR MAP3K1 FSHB NR0B1 DHX37 PIK3CA NF2 SMARCE1 SUFU DCAF17 SRY VAMP7 DMRT3 CYP17A1 NDNF SMO PSMC3IP HP_CONSTITUTIONAL_SYMPTOM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONSTITUTIONAL_SYMPTOM MME SCN5A PPARG SF3B1 SDHD FOXE1 TRPS1 COL1A1 LEMD3 PPARGC1A FLI1 IFNGR1 TAF15 TPM3 RTN2 AGK CLCN5 HPGD PTPN22 TGFB1 HADHA DDRGK1 CPA1 AGXT CDKN2B SDHC ERBB2 LDB3 GNAS SVIL CRLF1 MT-TK TP53 DNAJC6 NTRK1 HARS1 SMAD4 CBL STEAP3 CHEK2 FHOD3 HLA-DQB1 TNXB MYH6 SERPINF2 LMNA MATN3 HPS1 PIK3CA FAS MSTO1 SMAD3 STX16 TGFBI ZEB2 NEXMIF SEC63 KIF5A DES TGM1 MEFV MATR3 SPTLC2 TBK1 TSHB POLG2 HGD TREX1 POU1F1 DNAJB11 RYR2 MSH2 CARS2 MYH7 BCOR SLC2A9 ANXA11 SPG11 VCP ATL1 KCNQ1 PDGFRB TNFRSF11A SLC34A1 PTPRO MYLK ASPN PLEC AKT1 HACD1 PHKG2 ENG PROKR2 SCN9A TBP SRP54 SEMA3C PSTPIP1 CALM2 DMD DOLK CYP27B1 TREM2 MAGI2 SEMA4A SYP STAT6 APC MPL DLG3 CDH23 CPOX CHRND TECRL STAR MIEF2 DLEC1 LRIG2 CSRP3 CABP4 HSPD1 BRCA1 PHEX SCNN1B PROC MAT1A CHMP2B EXT1 UBQLN2 AMPD3 DYSF MAX LRP1 NCF1 MRAP TRAF3 BTK ERCC4 TBX20 ACAD9 MT-TE WASHC5 HPSE2 PPOX CDKN1B COL9A3 CD79A KIT RRM2B ERAP1 SOX3 WT1 INF2 POU6F2 BVES COL9A1 MYBPC3 NKX2-5 COG5 DNAJC19 EIF2AK2 HLA-DRB1 BCL7B PTEN PML ACTG2 NFKB1 PIGA MYLK2 LMNB1 ACSL4 ZNF711 CNKSR2 CACNA1C MDH2 MID2 PKP2 HNF4A MYL3 NFKB2 SMAD6 COMT PREPL GYPC NR3C1 CPT2 EPB41 IL23R FLT1 PTPN11 SLC9A6 CACNA2D1 DCC IGLL1 CASQ2 RBM20 ALB NPHS1 DMPK LDHA F5 TLR3 IL1RN NPPA FKRP YY1 SPINK1 HLA-DPB1 ELN CALM1 RPS6KA3 PRKAG2 TNFRSF1A AKAP10 ANO5 HEPHL1 TCIRG1 EIF4H ABCA12 CAV3 LPIN1 UNC13A HRAS SACS NEFL TRIP13 BNC2 USP27X GHSR PLP1 CLCN1 CFTR HNRNPA1 CASR SLC34A3 FUZ LDLRAP1 DNM1L PSMB9 PIGT UNC93B1 SLCO2A1 KIF1B BUD23 PDE8B TSHR NLRP3 VANGL1 ATXN10 LEMD2 DEPDC5 PLEKHM1 EIF2AK4 OPA1 HIRA PSAP LPIN2 MIF PSMB8 DACT1 MED12 CLDN3 MDM4 PTPN2 TBX1 LHX4 NUP205 PON2 AMPD1 TIMM50 IL10 CCND1 BAP1 TAB2 TBCD PHKA1 SMO JAK2 CCN2 CALM3 POLR3GL PEX11B CDC73 MESP2 DPYSL5 VDR IL6 SLC25A4 IRF5 ERBB4 NKX2-1 CTLA4 USP9X GJC2 TNNC1 PRKAR1A CHST6 TGFB3 SPTA1 CLCN4 FH RUNX1 ATP7A TRDN SREBF1 CDKN2C KY MTTP ISL1 UNC45A CDKN1A FGF13 EDN3 SPAST COL2A1 GBA2 CFI CCL2 COX6B1 HFE CAV1 POMP SCN4A TMEM270 SLC20A2 STIM1 BCL10 TBXT TRHR NF1 ABCB4 ASXL1 TRAPPC11 NUP133 ATRX MYD88 MLH1 UBAC2 RNASEH1 TRAPPC2 FLVCR1 TRPV4 PRSS1 NAGS BCL6 PYGM OVOL2 MEN1 PRSS2 RYR1 ICOS SIGMAR1 ALOXE3 CD81 KCNT1 OPLAH ZNF41 ATM PRKCSH HEXB WNT1 C4A MYL2 STAT4 ZNF81 GLA TARDBP FITM2 VAPB SERPING1 GNPTG TMEM127 TEK SQSTM1 SNTA1 TNFSF11 AIP GBA SLC40A1 RARA FGFR1 GCSH CYP2R1 FTSJ1 PAK3 NUP85 RET KCNH2 ECE1 ARX METTL27 MYF6 FSHR VHL MAFB TH FTL TLR4 FHL1 CLCN7 NOTCH3 COMP COL10A1 AUH COL17A1 RBCK1 CD19 SH3TC2 CHRNA2 TSC1 STING1 CACNA1G PDGFRA ACP5 SLC34A2 NIPA1 IL21 HMBS GABRB3 CAT LOX GNA11 IGHMBP2 DPM3 RPS20 CARMIL2 TNFSF15 SLC2A1 HESX1 ABCC6 XPA GUCY2C KCNC3 POLG COL11A2 CDH2 MVK B2M TRAF7 ATP7B TAFAZZIN MMP1 SYNE2 MCM6 PYGL RFC2 RB1 NOD2 FUS XPC ATP13A2 DDIT3 IKZF1 ZNF687 HS6ST2 CITED2 USP8 SLC3A1 PSMB4 CTRC DDB2 SPTB SCN1B CRKL SCN4B SOX10 ACTC1 NOS1 NOTCH2NLC NPRL2 FN1 NEK1 SCARB2 NUMA1 KRT17 DSG2 HADHB ALDOB CD247 PROP1 FA2H JUP SCN1A TGFBR2 ENPP1 PRTN3 CLCNKB NGLY1 ORAI1 SI FMR1 RIPK1 MET ARHGEF6 HLA-B SCNN1A CLIP2 TNPO3 MT-ATP6 DGUOK ABCG8 POMGNT1 ALDH18A1 WAS ABHD11 PKD1 TET2 ABCD1 LPL DSTYK ELANE TICAM1 APOL1 MYH3 SCNN1G SLC26A4 ALOX12B COL14A1 PAX8 FDX2 MSH6 HLA-DQA1 SEPTIN9 DDHD2 FKTN TBX18 CR2 DNAL4 COL3A1 MBTPS2 F8 STX1A CRB2 BMP2 CORIN IL12RB1 BTNL2 NRTN SERPINA6 COQ2 PRKRA NUP107 COL5A1 ARSA TGFBR1 CCR6 EPCAM TRPC6 BSCL2 MAPK1 DPP6 ATXN8OS TRPA1 RNF6 PNPLA2 SPP1 CTNNB1 PLCG2 LACC1 PIGY SBF1 SMAD2 KRT5 STEEP1 CTNS TP63 PRKG1 OTX2 PKD2 BICC1 TNFSF12 IL12A PLN CLCF1 GLI2 WIPF1 DNM2 CASQ1 UFD1 TRIO PMS1 THPO IL1RAPL1 LDLR IGHM ERCC3 UNC45B HBB GALNT2 MAT2A ALS2 IFT57 PRNP SCN10A VWA1 BCL2 SELENON REST GLT8D1 AP2S1 GTF2IRD2 CHCHD10 GP1BB GNE DNMT1 ALDOA KL PDGFB SDHA SDHB ARMC5 SOST TCF3 POU2AF1 REEP2 COL7A1 PRPH ERBB3 VPS37D PODXL ARHGAP24 GABRA1 DMGDH MAP3K20 PRKACA CEL ACSF3 IDH2 MMUT HABP2 DSC2 SPIB MYH11 STAT3 SPG7 MEF2A KRT6A SLC4A1 RAD51 GBE1 GTF2I GNB2 ARNT2 MYO1E LRP6 HLA-DPA1 KRT6B TNNI3 TTR TNFRSF13B NDUFAF6 HOGA1 SLC18A2 GPR101 NR1H4 CAPN3 CCR1 FAR1 NOP56 INSR IVNS1ABP ANK2 UBR7 GDNF SLC9A7 FIP1L1 TGFB2 SPTBN1 NPRL3 MAN2B1 P4HA2 FRMPD4 EWSR1 PMS2 TRIM28 ZFYVE26 DMP1 BMPR1A ABCG5 ZNF469 PTCHD1 VSX1 MFN2 PMP22 ERLIN1 MLH3 ENO3 LBR CHST3 SFRP4 MMADHC TBL2 CPT1A COPA HEY2 ATP8B1 RNU4ATAC ANG EMD NSDHL MT-TL1 HSPG2 PORCN SAA1 PNPLA8 GABRG2 COL1A2 LHX3 ACADVL AP5Z1 CACNA1H TBC1D8B RELA ALMS1 ADNP PALLD FARS2 POMT1 CFH MLYCD HAVCR2 APRT HS3ST6 SLC25A26 TPM2 VANGL2 WNT3A PDCD1 TBX6 ACADM FOXA2 KIF23 COL4A5 SYNE1 DNAJC30 ABCA1 DNMT3A SALL1 SLC26A2 CAPN1 TYMP BCR COL5A2 MMP2 SRSF2 UBA1 OPA3 MTMR14 TLL1 ARHGDIA C1S RNF168 ITGA7 PTH1R SEC24C LMX1B KCNE1 CDKN2A BRCA2 LMNB2 DNA2 JMJD1C MYO1H NAB2 ACTN4 ERCC5 ANKH KIF7 BIRC3 RAB39B DBH PHKA2 CRH TMEM43 G6PD GDI1 CD244 CIITA CYSLTR2 CFAP43 NOTCH2 ALG13 MECP2 DAAM2 COL9A2 CD2AP TTN NPHS2 ATXN3 IDH1 ZBTB16 FGF23 GNAQ SLC22A12 STK11 SOX2 IRAK1 ACTA2 TSPOAP1 GATA6 KCNE2 CASK SULT2B1 DKK1 ESR1 TBX19 EYA4 CRPPA MINPP1 F12 COQ7 PFN1 KRT14 IQSEC2 SLC22A4 ZEB1 TSC2 MALT1 SLC18A3 HPDL ABCC2 GALC TREH PRDM8 CCN6 EHHADH GNA14 SLC25A13 ABCB11 UPF3B LIPN PON3 STAT5B FAN1 OPTN ZC4H2 ABL1 TONSL ALG9 MS4A1 ZFTA EPAS1 JRK CTSK CCDC78 ARVCF CYP4F22 MYC KCNN4 NOS1AP PIEZO1 SLC25A11 COPB1 ANKFY1 PRDM5 PGK1 SDHAF2 PTPN3 RREB1 IL18BP SPTLC1 COQ8B KRAS PALB2 CHRNB2 EXT2 TENT5A CHRNA4 GFI1 GRHL2 GTF2IRD1 NUP37 KIF11 SDR9C7 POLE FBN1 NTN1 FOXE3 TYROBP C1QBP CFAP410 LRP5 GCH1 CA2 APOB KLRC4 SLC2A10 NUP160 PKHD1 SH2B3 GCK EPOR OTULIN PCSK9 ALAD EPB42 NLRP12 ANLN HELLPAR NABP1 MYOT AGTR2 DNASE1L3 GPR35 UBAP1 SLC39A14 TFR2 COL4A3 RASA1 SNX10 TBX5 SYK GLDC GANAB MLX CPT1C TNFRSF11B FMO3 PGAM2 PAX2 ALG10B MORC2 ACTA1 TCF4 ANK1 PON1 ANKRD55 NLRC4 GAPVD1 PKDCC PIGF SLC12A3 MC2R TBL1XR1 DLST GLE1 LRRC8A ZMPSTE24 ATL3 DSP COL4A6 ALDH4A1 IL12A-AS1 ADA2 DLL3 KCND3 CD28 GATA4 ERCC2 UFSP2 TNFRSF1B SEMA4D MFAP5 HBA2 GATM PIK3R1 SUFU EMP2 MTHFD1 TK2 IRF2BP2 NNT SELENBP1 COL8A2 TNNT2 SLC44A1 PANK2 PLCE1 KDELR2 AMT NFKBIL1 EDNRB GCGR CNBP BIN1 SYNJ1 CALR NUP93 RETREG1 GPD1L CLDN16 SMARCB1 CD79B DAXX AAGAB NIPAL4 ATXN2 C9orf72 IL2RB IL2RA RABL3 TXNRD2 HTRA1 LAT2 SEMA3D AKAP9 FIG4 MITF GNAI2 KCNJ5 DSE TRIM32 FERMT3 STOX1 NF2 MSMO1 SMARCE1 TRPM4 MLXIPL IL12B CAVIN1 PGM1 CYP19A1 GATA2 TSPAN7 CD55 TWNK NPM1 HNRNPA2B1 CCNF LIMK1 STUB1 FLNC SLC11A1 BAZ1B HMGCL DCTN1 C19orf12 BLNK TERT PDE11A POLR3A MMEL1 ALAS2 TMEM126B SOD1 SCN11A CYP7B1 MST1 HBA1 MNX1 COL11A1 KCNJ2 HACE1 TNFRSF13C H19 EPHA4 SLC1A4 FOXP1 PROS1 DAO FKBP6 NEFH GRM1 CLDN4 DIS3L2 PRKCD HCFC1 CARD8 ASAH1 KRT16 DTNA WWOX GPC3 ACAT1 CD46 HP_CHILLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHILLS SLC4A1 SPTA1 HADHB EPB42 TLR3 TRAF3 NLRP3 SPTB TICAM1 ANK1 TBK1 GYPC EPB41 HADHA PKHD1 MVK UNC93B1 HAVCR2 HP_ABNORMALITY_OF_HEPATOBILIARY_SYSTEM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_HEPATOBILIARY_SYSTEM_PHYSIOLOGY NDUFS4 COQ2 SLC25A15 CYC1 PEX6 TRMT10C NHLRC1 ENG CCDC47 ATP7B PTPN22 NAGS FECH VPS51 TJP2 PEX1 TERT PEX13 COA8 SC5D SLC30A10 RYR1 PEX26 OCLN TERC AKR1D1 CBL F13A1 HFE MT-ND3 NHP2 ALG1 P4HA2 SRSF2 MT-TT PEX3 STXBP2 RPGRIP1L MRM2 PEX10 MT-ND1 PEX12 GPR35 UQCRC2 ADK POLG2 HADHB MT-ND4 MPV17 PARS2 LIPA BCS1L CPT1A NR1H4 ACVRL1 DLD TRMU MT-ND2 FARSB FAH TCF4 STX11 PEX16 MARS1 PEX5 ACTG2 TFAM ATRX PARN SCYL1 HLA-DRB1 PORCN NPC1 POLG CYP7B1 RINT1 DKC1 COX16 NOP10 LARS2 MT-TW TNFSF15 ALMS1 CACNA1S NDUFAF3 MPI COG4 GALT JAK2 IFT122 ACAD9 ALDOB TINF2 ACADM SEMA4D TET2 SLC7A7 IKZF1 TMEM67 STT3B NPM1 GDF2 FH PEX19 GBE1 GANAB OTC ALG3 ABCD3 MTM1 PNPT1 SP110 COG7 TALDO1 QRSL1 IL12A SLC2A2 MT-ND5 EIF2AK3 PEX11B SH2D1A HLA-B HADHA TTC37 TNPO3 EPM2A IARS1 UNC13D MRPS7 F5 FBP1 UBR1 MT-ATP6 CPT2 DAXX MRPS23 LIPT1 PEX2 INPP5E PRF1 MT-TN ITCH PCK1 RUNX1 IFT172 IL12RB1 TMEM199 BTNL2 JAG1 HSD3B7 HADH MT-TK SCO2 CCDC115 DDOST BAAT IL21R OSTM1 NBAS MEFV DGUOK SLC39A8 CC2D2A HMGCL BLVRA MICOS13 MT-TL1 LYST MMEL1 GALM LRPPRC HBB RTEL1 SMPD1 MST1 NDUFS2 WRAP53 RNU12 IRF5 ALG8 USB1 GATC MT-ND6 SURF1 SMAD4 ATP6AP2 LARS1 MT-TS1 PEX14 USP18 POU2AF1 CTC1 FADD PCK2 NDUFB8 F13B MT-TV SERPINA1 GFM1 ASAH1 IL18BP AMACR SLC25A20 CEP164 XIAP COG2 SPIB RMND1 GBA ASXL1 HP_HYPERAUTOFLUORESCENT_RETINAL_LESION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERAUTOFLUORESCENT_RETINAL_LESION BBS1 KIAA1549 PRPH2 CFI ARSG CFAP418 IDH3A CCDC28B ARL6 CFH GUCA1A KIF3B GUCY2D POMGNT1 EFEMP1 HP_HYPOAUTOFLUORESCENT_RETINAL_LESION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOAUTOFLUORESCENT_RETINAL_LESION CWC27 RPGR CFH EFEMP1 CFI HP_ABNORMAL_TEMPER_TANTRUMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TEMPER_TANTRUMS KAT5 SIM1 MAGEL2 OCA2 TUBB2B SNRPN USP7 PACS1 TACO1 NDN SRCAP GBA CTCF CTNNB1 ADNP PPP2R5D FMR1 HP_LEFT_VENTRICULAR_SYSTOLIC_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEFT_VENTRICULAR_SYSTOLIC_DYSFUNCTION B2M ABCC6 POMT2 TWNK ENPP1 POLG SDHD POLG2 RRM2B TTN LAMA2 DMPK GTPBP3 PPCS ACADVL SCN5A SLC6A6 NPPA SLC25A4 RPL3L COA6 SGCG ZMPSTE24 FHOD3 LMNA DYSF HP_HONEYCOMB_LUNG http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HONEYCOMB_LUNG TERC MUC5B SFTPA2 TERT RTEL1 ATP11A STN1 SFTPA1 SFTPC FAM13A PARN DSP DPP9 ABCA3 HP_BILATERAL_TONIC_CLONIC_SEIZURE_WITH_GENERALIZED_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_TONIC_CLONIC_SEIZURE_WITH_GENERALIZED_ONSET GAD1 SEPSECS GABRG2 PURA TBC1D24 SCN2A AP2M1 UBE3A GRIN2A GABRD SLC9A6 SCN1B CACNB4 CPLX1 ASAH1 ADGRG1 GBA CLCN2 SCN1A VPS53 GABRA5 PCDH19 NARS1 GABRA1 KCNQ3 NDE1 TSEN15 PTEN STXBP1 SYNGAP1 CHD2 PCYT2 TSEN2 SCN9A CILK1 EFHC1 SLC2A1 NEXMIF TSEN54 COX8A COQ5 EXOC8 TMX2 SLC6A1 KATNB1 JRK TSEN34 HP_ABNORMAL_CIRCULATING_APOLIPOPROTEIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_APOLIPOPROTEIN_CONCENTRATION ATP6V1E1 ATP6V1A ATP6V0A2 APOC2 LPL MTTP HP_PARASOMNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARASOMNIA TFAP2B CHRNA2 SLC25A13 SIM1 DEPDC5 CHRNA4 CABP4 MAGEL2 CRH KCNT1 CHRNB2 HP_SOMNAMBULISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOMNAMBULISM CHRNA2 DEPDC5 CHRNA4 CABP4 CRH KCNT1 CHRNB2 HP_CONFUSIONAL_AROUSAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONFUSIONAL_AROUSAL CHRNA2 SIM1 DEPDC5 CHRNA4 CABP4 MAGEL2 CRH KCNT1 CHRNB2 HP_CUTANEOUS_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTANEOUS_CYST KRT6A APC CTNND1 ALX3 CDH1 KRT5 KRT6B TSC1 KRT17 POFUT1 POGLUT1 TSC2 CEP57 PSENEN KRT16 ANTXR1 ZSWIM6 MSX2 VANGL1 TFAP2A SYT1 HP_DERMOID_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DERMOID_CYST MSX2 VANGL1 TFAP2A ALX3 SYT1 ZSWIM6 HP_SNORING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SNORING PLCB4 GNAI3 EDN1 AHDC1 HEPHL1 GPR101 HP_STUTTERING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STUTTERING AP4E1 MT-TW CHD3 MT-TS1 MT-TS2 MT-TQ MT-ND5 MT-CO3 MT-TL1 KANSL1 NEXMIF MT-ND6 MT-TH MT-ND4 LAS1L MT-TF MAPT MT-CO2 SCYL1 MT-CO1 MT-ND1 HP_ABNORMAL_ESOPHAGUS_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ESOPHAGUS_PHYSIOLOGY ATP7A COL1A1 SATB1 MECR CCDC47 DCTN1 CACNA1A SLC18A3 TPM3 CAMK2B MAP2K2 ATXN3 CDKN2B SLC9A6 SDHC CRLF1 NTRK1 RERE DLL1 TDGF1 MRPS28 PAX7 ERCC8 ARSL MYO9A CDK19 SLC13A5 BRAF KDM5B ANKRD11 SPEN VCP PUS3 SIX3 ZEB2 NEXMIF CHRNE CHRNA3 MT-ND1 SEC63 EXT2 KCNK9 ZSWIM6 SPTLC2 ATXN7 GPHN POLG2 TECPR2 LMOD3 MT-ND4 GRHL3 CNKSR2 PLXND1 CARS2 FOXH1 CHRNA1 FGF8 GABRB2 SPG11 STAT3 TRPM3 PHOX2B TP63 NTRK2 MT-ND2 NGLY1 HACD1 TRAK1 TBP PIGN USP7 GLI2 PRKCZ MSX1 TMTC3 SLC1A2 ALDH18A1 SUCLG1 SHH KBTBD13 POLG DMPK STXBP1 CHRND ZNF699 CTCF EHMT1 MYOT AFG3L2 ATP1A3 NCF1 CUX1 FA2H CREBBP ATRX GRIN2D TGIF1 GLRA1 GCH1 TSEN2 KIT RRM2B SETBP1 ATP6V1A GNS SLC25A1 STN1 TBK1 BCL7B CCN2 PTCH1 ACTG2 DISP1 PIGA LMNB1 UBA5 SELENON KLHL41 NEUROD2 MYH11 COL13A1 DNM1 BICRA NEFH NEB SLC6A3 MBD5 COMT TK2 MT-ND5 MACF1 FBXL4 FBXO7 CYP27A1 ATXN8OS CDKN1B EPB41L1 UBB ARHGAP29 DEAF1 CHAT ELN ADAMTS2 NODAL TANGO2 EIF4H LMX1B PANK2 HPRT1 SACS PFN1 SRPX2 WFS1 FTL NONO CYFIP2 NUP62 AFF4 FGFR3 FGFR1 CNTNAP1 MT-TK DNM1L TAOK1 SYNJ1 SCARB2 BRD4 AARS1 BUD23 HRAS TERT ARFGEF2 SCN3A SYNGAP1 ATXN10 HTT ATG7 OPA1 HIRA STAG2 B4GALNT1 GRM1 CLDN3 HNRNPH2 ATN1 NDUFS3 EEF1A2 NECTIN1 TBX1 SPTBN4 FIG4 SFTPA2 SNCA HIVEP2 TBX4 BAP1 HSPG2 PRPS1 TBCD MYPN TCF4 PLA2G6 WWOX SMG9 ALS2 KAT6B ERLIN2 PNKD CDC73 LAMA2 GMPPA FERMT1 SMC1A C9orf72 PDE8B DPYSL5 GFPT1 SATB2 STAG1 PEX16 ADAT3 PIK3R5 SOD1 YARS2 CLN8 CDKN2C KY PPP3CA CDKN1A LRRK2 SYT14 AR KLHL40 CAV1 ERMARD LAMB2 EIF5A EDEM3 TMEM270 PDPN TUBB4A ADCY6 KMT2C APOE RPL10 TRAPPC11 MAPT FUS REPS1 GAS1 RNASEH1 POLR3A HPCA SLC25A24 KMT2A SIGMAR1 DNAJB6 GRM7 ATAD1 ADH1C CLTC NFIX PRKCSH BMP4 ITCH TIMM22 NUP214 APP MYL2 TOP3A HOXB1 VAMP1 ZIC2 SMC3 SDHB EIF4G1 SLC46A1 CLCN1 FLVCR1 MID1 TARDBP PRKCG QDPR MYORG TRIP4 MGAT2 NDUFA6 PIEZO1 ARID2 METTL27 MAPK1 CDC6 NOTCH3 MAP3K7 CELF2 NALCN SLC6A9 GBA RELN REEP1 GLA FARSB CACNA1G FOXG1 PDGFRA RAD21 HCN1 FLAD1 SEC23A SON CARMIL2 NDUFAF2 PDP1 MT-TW KCNC3 PLEC TFAP2A LUZP1 SETD1B MMP1 DNAJC13 ARV1 RFC2 AP3B1 KCNQ2 ELP1 ATXN2 AAAS IKZF1 TAF1 FGF13 MT-ATP6 KCNA2 NOS1 ORC6 UBQLN2 PGM3 MAP1B COG7 TPM2 KIF5A FMR1 KCNB1 HLA-B CLIP2 SNCAIP GBA2 MRPS34 DGUOK DPP9 RHBDF2 ABHD11 POGZ SCUBE3 NF2 SNAP25 PIGT NSD1 LETM1 ACTA1 WAC PCNA SYT1 HLA-DQA1 KLHL7 FBN1 ADGRG1 VARS1 DDHD2 CENPT RET MATR3 MBTPS2 STX1A SETX CIC GABRA5 NEPRO SAMD9 SNRPB SLC35A2 CACNG2 CACNA1B PRKRA SCO2 PSEN1 NOTCH2NLC COL5A1 MTRFR CCR6 DDOST SOX5 MYH8 ASXL1 KAT6A IQSEC2 OPTN MGME1 MCEE DHDDS HLA-DRB1 POLR3B SCN8A GNAO1 PACS1 TBC1D23 ALG9 UFD1 ATXN1 PI4KA EXT1 YWHAG UNC45B FGF12 CSPP1 GTF2IRD2 MED12 MT-ND6 ASPA CHCHD10 ABCD1 STUB1 GP1BB SKI TERC DYRK1A COQ2 MED12L RNF125 GNAQ POR RETREG1 DOCK8 COL7A1 BLM VPS37D NUS1 NDUFB8 DLG1 SURF1 CTHRC1 MAP3K20 RYR1 PHGDH SZT2 TSEN54 IDH2 DYNC1H1 SPG7 SEPSECS NDUFS1 GTF2I HDAC8 IRF5 RTEL1 MSR1 ATP7B PDHA1 ADAR DSP GALC PTS MUC5B COL2A1 DDB1 MMP23B SQSTM1 LINGO1 NOP56 IRF6 GEMIN4 IVNS1ABP SH2B1 FCSK ECM1 HMBS ARF1 CTNS MFF SDHA CDH15 PPM1D LBR GIPC1 CHAMP1 SIK1 CSNK2B TBL2 ZMYND11 SHANK3 MEGF10 TRAPPC12 EP300 GIGYF2 PYCR1 DYSF MEIS2 GUCY1A1 SLC6A5 GABRA2 ATP1A2 SLC12A2 PYROXD1 ASCC1 PORCN NPC1 TTBK2 CYP7B1 ACADVL MADD ALMS1 ZFYVE26 ADNP FARS2 FGFRL1 CPLX1 CDH1 GLUD2 PABPN1 RAI1 KIAA0586 EPRS1 FLNA COL4A5 DNAJC30 UBTF PSAP SYT2 NRXN1 NPC2 NEDD4L SRCAP KCNQ3 TYMP COL5A2 MECP2 VPS13A ACTL6B CHD7 OCRL ARNT2 ITGA7 USP9X SEC24C SPECC1L COLQ GMNN TFG JMJD1C MYO1H ORC1 BRSK2 NIPBL OCA2 CDON SEC31A IDH1 UBE3A NPHS1 DHCR7 SETD2 UBE4B PARS2 KIRREL3 PYGM STIL CCDC22 ASH1L RAB11A TUBB6 MAGEL2 PIK3CD AASS SCN9A DCX FGF10 TBC1D24 ABCD4 TSPYL1 HPDL GCDH KCND3 KIF1A MYH7 GNB5 SHROOM4 CRYAB GRIN2B PLAA PRNP ORC4 ASCL1 NF1 VAPB SIAH1 PUF60 SLC2A3 GRIN1 MRPS25 ZC4H2 VPS35 IRF2BPL ACOX1 SLC1A3 SLC52A2 ARX TSEN15 VAC14 ARVCF MPZ PMP22 RREB1 SPG21 REV3L WASHC5 SPTLC1 SLC5A7 TSEN34 CAMK2A PRPH NEK1 TENT5A PSPH LONP1 TRMT10C NDUFA9 EXOSC9 GTF2IRD1 KNSTRN ASAH1 DKK1 FLII RARS1 CAMTA1 LRP5 SLC2A10 NSD2 NUTM2B-AS1 KCNQ5 NBEA HGSNAT POLR2A MT-ND3 GABRG2 XRCC1 APC2 ADAMTSL2 COQ4 CDKL5 WARS2 NECAP1 SEMA3E PIEZO2 MYT1L DLX4 ATP6V1B2 SSR4 SDHD WDR26 IRX5 ACTB CHMP1A FRG1 SFTPA1 SALL1 TWIST1 MYMK AMER1 FGFR2 GNAS ATL3 COL4A6 ALDH4A1 NDUFAF3 HLA-DQB1 SMARCA2 ABCA3 SPOP GRHL2 YY1 AFF3 FXN MSL3 GLRB SLC19A3 FLCN ATP11A SLC25A4 TGM6 ATP13A2 PARN ADD3 SLC44A1 HSD17B10 AP3B2 KDELR2 CTBP1 LIFR MED17 PAK1 TIMM8A SERPING1 FUZ KIAA0319L PCGF2 SCN4A NCAPG2 LAT2 STAC3 KCNAB2 NEU1 PLP1 AGRN RLIM ASXL3 WNK1 MLXIPL CAVIN1 SLC25A22 AGO2 TWNK DAB1 LIMK1 SLC19A2 BAZ1B C19orf12 CLCN4 MT-TL1 NR4A2 ERCC6 SLC52A3 GJB1 ATL1 LRPPRC EBF3 SPART CASZ1 PRDM16 NDUFS2 LTBP4 SET ALG12 SLC1A4 FKBP6 MEN1 FAM13A CLDN4 GDAP2 IARS2 MT-TV DALRD3 SFTPC GABRD DDC LRP12 HP_ABNORMALITY_OF_SKIN_ADNEXA_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SKIN_ADNEXA_PHYSIOLOGY KLC2 TENT5A SDHD GDF1 CERS3 ABCC8 NTRK1 ARNT2 SLCO2A1 KRT6B HPGD PTPN22 PRDM12 GJB6 TERT KCNJ18 VHL MEN1 HNF1A SLC18A2 RYR1 GPR101 TP53 EDARADD TERC MBTPS2 NGF UCP2 SCN11A HEXB EDAR HMBS BRAF GLA NHP2 CTNS HINT1 P4HA2 TP63 TMEM127 NIPAL4 ELOVL4 KRT1 SDHB SCN9A GJB2 AIP SPTLC2 TRAF6 SLURP1 NFKBIA LMNB1 ZFHX2 ERCC8 FGFR1 PERP RET SOX10 BCS1L SHANK3 MLX KDF1 SMARCAD1 LIFR CUL4B GABRA3 ALPK1 CLCF1 HLA-B SDHC PROKR2 ATP1A2 EDA SLC13A5 PARN SUCLG1 HLA-DRB1 IGHMBP2 CDH23 DKC1 NOP10 MADD DLST ATL3 CLDN10 COL6A3 PLAA STS TGM1 MAX CACNA1S IKBKG COG6 ALDOB TINF2 ELP1 KIF1A FUCA1 KRT14 HNRNPK ATP1A3 DNMT3A NPM1 DSG1 TAT RIPK4 SOX3 ROGDI POLA1 KRT17 SLC12A3 ALOXE3 CLCN6 MDH2 LAMC2 KRT9 HNF4A KDELR2 ALOX12B CLCNKB NGLY1 COL17A1 KRT16 BIRC3 RETREG1 WNT10A YY1 MPL SPR LAMA3 TRPV3 RSPO1 HESX1 CRLF1 ITGB4 DST CTSB COL6A2 SOX2 FLRT1 COQ2 SERPINB7 MED13L WNK1 MAP2K2 IL12B KIF1B KCTD1 MAP2K1 TSPEAR ABCA12 KCNJ11 ERCC6 ITPR2 NLRP3 PKP1 COL6A1 ST14 MALT1 KRT5 PHOX2B OTX2 H19 ATL1 JAK2 ALX4 THPO PRNP GNA14 RTEL1 GMPPA ARX WRAP53 COL11A1 CASK USB1 FOXP1 ADAT3 EPAS1 SDHA SLC1A3 KRT6A JUP FH CACNA1A IGF2 CST6 CTC1 CSTB SLC25A11 PNPLA1 FAM111B SDHAF2 NECTIN1 EDA2R LAMB3 ERCC4 SPTLC1 GHR TRIP4 BCL10 CFTR DDC KCNA1 STIM1 NF1 HP_CERVICAL_LYMPHADENOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CERVICAL_LYMPHADENOPATHY TNFRSF1A SLC29A3 RAC2 ELANE RASGRP1 HP_MALAR_RASH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALAR_RASH CASP10 STAT4 FCGR2B PTPN22 CDK10 STING1 DNASE1 BLM SPP1 CTLA4 IRAK1 TREX1 FCGR2A HP_OVARIAN_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVARIAN_CARCINOMA PTCH2 DMPK RAD51C CDKN2A BRCA2 SMAD4 SUFU KRAS PALLD RABL3 TP53 PTCH1 BRCA1 PTEN PALB2 HP_ABNORMAL_ARTERIAL_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ARTERIAL_PHYSIOLOGY CRELD1 BRCC3 COL1A1 TGFBR2 GTF2I ENPP1 PRTN3 ENG RNASEH2C UBAC2 COL3A1 CLCNKB HLA-DPA1 IL23R GTF2IRD1 PTPN22 SCNN1A SLC2A10 NAGS CLIP2 FBN1 SMARCAL1 FOXE3 MYH11 ABHD11 AGXT TET2 PIK3CA SCN5A NPPA MEFV MPL RNASEH2A CCR1 ANGPTL6 ELN KLRC4 KRAS TREX1 C4A MYH6 EIF4H TGFB2 SCNN1B ACVRL1 STAT4 LAT2 GLA TGFB3 MYH7 FAS STX1A ACTB P4HA2 CTNNB1 ABCC6 HLA-B IRAK1 IFIH1 ACTA2 ACTG1 GATA6 SAMHD1 NKX2-5 COL5A1 IL12B TBX20 TGFBR1 BUD23 RASA1 JAK2 TLL1 GATA4 HTRA1 METTL27 PLOD1 TBL2 TLR4 MLX COQ2 COL1A2 SPP1 HEY2 LIMK1 CLDN3 BRAF NOTCH3 MYLK RNF213 GUCY1A1 BAZ1B TP53 STING1 SMAD2 ACP5 IL10 PRKG1 XYLT2 SCNN1G IL12A SON THPO CBS ADAMTS13 LOX HLA-DRB1 COL4A1 SH2B3 ADA2 MAT2A RNASEH2B ALMS1 ZMPSTE24 LBR NT5E GTF2IRD2 IL12A-AS1 SERPINC1 LMNA THSD1 SMAD4 NR2F2 XYLT1 SMAD3 IKBKG NCF1 HLA-DPB1 RFC2 RNF125 FKBP6 TGFBR3 MFAP5 CLDN4 DNAJC30 VPS37D APP CITED2 MLXIPL PIK3C2A GDF2 ERAP1 EPHB4 COL5A2 PLOD3 CALR MYBPC3 ACTC1 FKBP14 TMEM270 ADAR CTLA4 BCL7B SLC12A3 HP_UPGAZE_PALSY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPGAZE_PALSY KCNC3 DLAT VPS13A ATP13A2 PLA2G6 AASS POLG ATXN1 TWNK FTL SH3TC2 HP_DELAYED_ABILITY_TO_STAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_ABILITY_TO_STAND COL12A1 DLAT GAA DPM3 KIDINS220 PHEX SDHB CLCNKA BSND CLCNKB ALMS1 SCN2A HP_DELAYED_ABILITY_TO_SIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_ABILITY_TO_SIT WDR26 NGLY1 CLDN11 VPS35L PLP1 SATB1 INPP5E FOXG1 SON PCYT2 RAB3GAP2 NEXMIF CUL3 VPS51 WASF1 PAFAH1B1 PGAP1 POLR3K AP3B2 MECP2 UGDH NARS1 DAG1 GALNT2 OPHN1 ALMS1 DPYSL5 CASK TUBB3 GAA HK1 TRIO POLR2A EXTL3 HP_RED_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RED_EYE SAMD9 TNFRSF13B AP1B1 CD19 NLRP3 IARS2 UBAC2 UROS BTD ERF IL23R ERCC8 SREBF1 MAPT HLA-B IGLL1 ERCC1 WAS MPLKIP PLG ERCC2 GNAS MBTPS2 GJB2 MEFV TFRC CD79B CCR1 KLRC4 IGSF3 C4A FGFR2 FAS ERCC6 STX16 TGFBI BTNL2 ICOS DNASE1L3 USB1 NLRP1 RAG1 PSMB9 TP63 HLCS FOXC2 FGFR3 TARS1 BTK KAT6A SHMT2 LBR RNF113A TNFRSF13C DDB2 TLR4 PSMB8 SCN9A COL17A1 POLH FGF10 IGHM PAX1 BLNK IL10 IL12A WIPF1 VPS33A MMP1 GTF2E2 STX11 FERMT1 GATA1 LRBA ERCC3 SLC39A4 LRRC8A TNFRSF1A STAT4 MAB21L1 IL12A-AS1 HLA-DRB1 TKT FBN1 DKC1 RNF125 NOD2 COL7A1 MTTP CR2 TCF3 AIRE IKZF1 XPC GSN UROD PSMB4 PIK3R1 GJB6 XPA CD79A ERAP1 AEBP1 RAG2 ERCC4 GTF2H5 HP_LUPUS_ANTICOAGULANT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LUPUS_ANTICOAGULANT TNFAIP3 STAT4 SPP1 IRAK1 ADA2 HP_AUTOSOMAL_DOMINANT_GERMLINE_DE_NOVO_MUTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTOSOMAL_DOMINANT_GERMLINE_DE_NOVO_MUTATION CHD8 MAPK1 KMT2C SEMA6B GNB2 POLR2A HP_ABNORMAL_CELLULAR_PHENOTYPE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CELLULAR_PHENOTYPE TNFRSF13B RNU4ATAC SH3KBP1 FMR1 SURF1 NEUROG3 BUB1B DNM1L PDHB STX1A IFNGR1 CHCHD10 MT-ND6 SLC25A3 NDUFAF6 KRAS HADHA IKBKG IL4R TNFRSF11A CARD9 ZAP70 TK2 IVNS1ABP IL2RG FAS CISD2 TXN2 NFE2L2 PIK3R1 CTNS NDUFS2 VCP MFF MT-TS2 CD247 TET2 RFXAP MRM2 ZEB2 IRF2BP2 ICOS IL7R PIK3CA OCRL LAT BACH2 POLG2 MT-ATP6 CARS2 MT-TE SLC6A14 ISCU IGKC STAT3 RFWD3 MCM4 CFTR CIITA ERCC4 HMGCL SLC34A1 PIK3CD CLN5 TMEM70 PDGFB PDHX MCPH1 TUBB8 PSTPIP1 RTEL1 NDUFAF3 BAP1 GCLC ZP2 TRIP13 MT-CO3 PTEN SUCLG1 PEX5 B2M SLC26A9 ACADVL ELANE COX16 NDUFA8 UVSSA RELA DNMT3B NDUFC2 MIEF2 CACNA1S MYH7 WAS TACO1 AK2 ERCC2 MTOR AFG3L2 PEPD LIPT1 SLC22A5 SLC19A3 FOXRED1 MYD88 FANCL SLC25A26 IFIH1 RAI1 TNFSF12 ATXN2 ACADM BTK ACAD9 KIF23 CR2 DSP NFKB2 PDHA1 SLC25A10 BRCA1 CCND1 MS4A2 TP53 KCNN4 MT-ND1 XPA RFX5 CD79A RRM2B NDUFB9 MT-TW TPP1 NDUFS8 TYMP ZCCHC8 HELLS GNS HLA-DRB1 ADA PRKCD GTF2H5 DCLRE1C DCTN4 NFKB1 ATM RNF168 EDNRA SLC39A4 QRSL1 XIAP CASP10 SEC24C CEACAM6 HFE SLC2A1 HLA-DQB1 GATA3 PET117 MT-CYB IL12A LCP2 FANCI COMT COX5A IKBKB MYH14 DNA2 NDUFAF4 JMJD1C BRCA2 MAGT1 IGLL1 ALB FAT4 MPLKIP FBXL4 COX20 GSTM3 JAK3 RAG2 NDUFAF2 TRMT5 PET100 NDUFV2 IRAK4 SEC23B FANCG NHEJ1 GFER COL7A1 SHH PRF1 NDUFA12 SQSTM1 NDUFS3 TTN FOXP3 NKX2-5 COX15 FANCA TCN2 DOCK8 LIG4 SP110 LRRC8A MT-CO1 BCL10 RAG1 KRT9 HADH PSMB9 CA2 CD27 MT-ND2 ACAD8 FLNA NDUFAF5 GTPBP3 TARS1 CDCA7 TYK2 TSFM WEE2 NDUFA13 NEB DGUOK MT-TL1 HIRA PSMB8 SLC39A8 ERCC6 AICDA NDUFS7 SMO PIGK MDM4 ETFDH TBX1 MOGS IGHM MT-ND4 RIPK1 FANCB KRT14 TIMM50 MRTFA TIMMDC1 RAC2 CLCA4 NBN EHHADH GTF2E2 CLN6 CLCN7 LRBA NDUFA1 C9orf72 NDUFS4 DNAJC5 ETFB PMVK FANCE IRF5 MRPS25 DNAJC30 CTLA4 GATC NFS1 SDHA ERCC5 TONSL MT-TF MS4A1 SLC11A1 KRT1 ZFTA NUBPL EXTL3 IL6R FANCF CPT2 CD40 PMM2 CLN8 MT-TQ XRCC4 GYG1 ARVCF MSN TRMU PSAP XPC FCGR3A MRPL12 PDP1 POMP PANX1 NSMCE3 RREB1 CSNK2A1 MT-ND4L PLA2G7 ECHS1 CXCR4 SUCLA2 IL2RA RAD51C PTCD3 NRAS FUS GPC4 VPS45 CD19 MT-TN CFHR3 MT-TS1 HIBCH KNSTRN EARS2 SPINK5 ESCO2 CD3E MVK ATP6AP1 KLHDC8B SLC25A13 TERT CD81 SLC3A1 COA6 UNC13D ESS2 LEP TGFB1 HGSNAT LEPR ITCH TIMM22 RFXANK OTULIN AKT1 IBA57 NDUFS1 TPP2 PGM3 UNG SDHB FANCC SLX4 STXBP2 SLC46A1 TRNT1 ACTN2 GPR35 NLRP1 GBA TARDBP SDHD MRE11 MGAT2 NDUFA2 CD70 ETFA ERCC8 LBR SCO1 SYK RNF113A TNFRSF13C DDB2 BLM PARN DGCR8 MT-TH MTFMT DLD MYSM1 KARS1 STING1 XRCC2 TCF4 MIF CYBB STX11 CTPS1 IL2RB ERCC3 NLRC4 EPG5 IL21 SON NFU1 PNP CD79B NADK2 POLG UMPS CARMIL2 TNFSF15 TBK1 GPC3 RAD50 ADAMTS3 ZMPSTE24 CEACAM3 ADA2 SETX BRIP1 TRAF7 TAFAZZIN MMP1 RYR1 COG6 CD28 COL1A1 AP3B1 FASLG NDUFA6 TNFRSF1B SEMA4D PIGM NDUFB10 NDUFAF8 SLC7A7 GATM UBE2T TTC37 PSMB4 NDUFV1 SUFU ITK RAD51 TNFRSF11B SLC25A4 RPL3L ALG12 BOLA3 MTHFD1 SCARB2 CASP8 RBM8A CD40LG NDUFAF1 CYP27A1 PLVAP MT-TL2 MAD2L2 SLC5A6 PALB2 HSD17B10 CDAN1 CFHR2 NDRG1 ASAH1 RASGRP1 SLC35C1 SAMD9L SERPINA1 MCOLN1 SH2D1A SMARCAL1 RAB27A TNPO3 CDSN TIMM8A CNBP RMRP COX6A2 IKZF1 ZBTB24 SMARCB1 TFRC PIGT DGCR2 MRPS23 LMNA CLN3 COA8 KRT5 CYBA MT-CO2 ADAM17 CAMKMT GJA1 NDUFA9 MAN2B1 NDUFB11 DLAT SFTPA2 GNPTAB WIPF1 NDUFA11 IL12RB1 KCTD7 STAT5B PREPL NDUFA10 GLRX5 FANCD2 NF2 CARD11 SMARCE1 ATP5F1E CAVIN1 DGCR6 TCF3 HMOX1 MRPS14 MT-ND5 FXN CD55 IL21R IL6ST MUC5B NCKAP1L PLCG2 MGME1 SKIV2L COA3 FDXR NDUFA4 BLNK CCBE1 MT-ND3 RHAG MMEL1 VPS33A NDUFS6 PPM1B UFD1 LRPPRC PNPLA2 PIK3C2A TSC1 HYOU1 PATL2 MST1 PNPT1 GP1BB GNE DNMT1 SLC9A3 ATP6AP2 TWNK HLA-DQA1 LAMTOR2 POU2AF1 MECP2 SFTPC COX4I1 GFM1 CD3D SLC25A20 SPIB NDUFB3 SPG7 TMEM126B FANCM HP_PSYCHOMOTOR_RETARDATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSYCHOMOTOR_RETARDATION MCCC1 HSD17B10 SLC25A15 SYT14 ALG11 RPIA PEX1 COX7B MPLKIP MVK IARS1 FOS HESX1 SIL1 ALG8 POMK MCCC2 LAMB1 CFAP43 PIGV EMC1 ARSL LAMB2 SERAC1 GLB1 ALDH18A1 CAVIN1 PTS ALG3 DLAT AGPAT2 SLC33A1 LRPPRC PC TBC1D24 BMP4 VLDLR QDPR TARS1 AKT3 RDH11 RNF113A TWNK VRK1 AUH NALCN AASS BSCL2 MEIS2 HMGCL TMEM70 AIFM1 ACY1 RBPJ GBA TINF2 ABAT CWC27 VPS33A EPG5 NFU1 GTF2E2 KAT6B MRPS22 ALG6 DOCK6 ERCC3 ALDH5A1 PIK3CA ATPAF2 FANCE PSAT1 PCCB ERCC2 CAV1 DDX11 CD96 PMM2 ALG1 RNF125 PCCA PDHA1 GCH1 SLC19A3 ATCAY MTRFR MRPL12 HSD3B2 GK GLYCTK ALG12 FGFR1 NEU1 GTF2H5 PPARG BTD KYNU HP_UVEAL_ECTROPION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UVEAL_ECTROPION OVOL2 ZEB1 VSX1 COL8A2 GRHL2 CPAMD8 HP_INTERICTAL_EEG_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERICTAL_EEG_ABNORMALITY NF1 SATB1 PIGA ZNHIT3 IARS2 CACNA1A SCN9A PTPN23 TBC1D2B SLC18A3 GRIN2A PDHA1 ALG13 NSUN2 PTS GRIK2 SCN1A AIMP1 SRPX2 SYNJ1 DOLK WASHC4 SPTAN1 KCNMA1 SARS1 ABCC8 NBEA CDK19 SPTBN1 SLC13A5 IER3IP1 GRM7 NPRL3 UBE4A AIMP2 MFF ATXN10 STXBP1 CNPY3 MAP1B SCN8A GABRG2 UFSP2 NDST1 NEXMIF FGF12 ARHGEF9 MYO9A SCN2A CNKSR2 CARS2 CLTC KCNA1 SIK1 SLC6A1 PIGP TRAPPC9 GABRB2 TRAPPC12 SYT1 NTRK2 KCNJ11 GABRA2 TRAK1 CACNA1E CRBN CDKL5 ERMARD GABBR2 SLC35A2 CASK SLC1A2 CACNB4 CACNA1H PRRT2 DOCK7 COL13A1 CABP4 DPM2 EFHC1 WDR45 EEF1A2 PLPBP KCNB1 SCARB2 GRIN2D DNM1 AP2M1 SLC25A10 SYT2 B3GALNT2 KCNT2 UGDH SETBP1 KCNQ3 ATP6V1A ACTL6B SLC25A1 CHD2 FRRS1L IQSEC2 UBA5 CSTB NEUROD2 ST3GAL3 DMXL2 GABRB1 ARX TRIM8 ALG2 PSAT1 SLC9A6 PGAP1 PGAP2 CRH CHAT DEPDC5 ASNS LINS1 PNKP ATAD1 CYFIP2 DPAGT1 CILK1 PARS2 AARS1 HNMT SCN3A PNPO KANSL1 NHLRC1 SLC39A8 ARFGEF2 AASS DCX GNAO1 MDH1 CLN5 TIMM50 SLC12A2 GNB5 WWOX TBCK SLC45A1 PIK3CA GFM2 PPP3CA JRK CLN8 FGF13 NCDN CUX2 STARD7 EXOC8 CC2D1A SLC5A7 PLCB1 CRADD CPA6 CHRNB2 GAD1 RPL10 CHRNA4 MYD88 HIBCH SLC25A46 PIGL GRIN2B C12orf4 KCNT1 PHACTR1 PIGG PIGQ PIGV ALG14 APC2 STX1B ADGRV1 GLYCTK MECP2 MED25 SCN1B NACC1 KCNA2 ADARB1 GABRD ZC3H14 MGAT2 PIGY KCNQ2 NECAP1 TECR MED23 PRPS1 MAPK10 CELF2 PDSS2 IQSEC1 CHRNA2 LMAN2L GUF1 CLIP1 RNF13 KCTD7 HCN1 ROGDI METTL23 CUL3 PRSS12 SETD1B GABRB3 PRICKLE1 P4HTM PIGS SLC2A1 ALDH4A1 DCPS MED13L TBC1D24 PLAA DPYD LONP1 ARV1 SYNGAP1 GABRA1 UPB1 PIGW NDUFAF8 TUBB2A TTC5 FBXO31 GLUD1 RSRC1 NPRL2 ATP1A2 ALDH7A1 TGFB1 SLC25A22 PGAP3 EZR AP3B2 MAN1B1 MED17 UBE3A HCFC1 COQ2 EPM2A EDC3 DAG1 SNAP25 PIGT GNB1 RELN PHGDH FMN2 ADGRG1 ALG3 GABRA5 AGRN ALKBH8 CACNA1B PAFAH1B1 TUBGCP2 TNIK SMC1A AKT3 ALG11 HMGCL CLTCL1 DHDDS KDM5B ST3GAL5 PIGC CLCN4 PDE2A PIGO LRPPRC PI4KA YWHAG MBOAT7 CPLX1 VAMP1 KIF1A CLCN2 SLC1A4 PCDH19 NUS1 LGI1 NSF SPATA5 SAMD12 DALRD3 COX4I1 SZT2 STRADA TUSC3 CCDC88A NEMF HP_ANTI_THYROID_PEROXIDASE_ANTIBODY_POSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTI_THYROID_PEROXIDASE_ANTIBODY_POSITIVITY FOXP3 NFKB2 ITCH ADA RASGRP1 HP_PULMONARY_INTERSTITIAL_HIGH_RESOLUTION_COMPUTED_TOMOGRAPHY_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_INTERSTITIAL_HIGH_RESOLUTION_COMPUTED_TOMOGRAPHY_ABNORMALITY SFTPC TERC COL3A1 HLA-DRB1 SFTPA2 RTEL1 BMPR2 TERT SFTPA1 SLC34A2 FAM13A DSP DPP9 EIF2AK4 NKX2-1 MUC5B ASAH1 ATP11A HLA-DPB1 CSF2RA CSF2RB STN1 SFTPB PARN ABCA3 HP_STARING_GAZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STARING_GAZE NGLY1 VAMP1 SNAP25 SLC25A1 CHAT AGRN SLC2A3 SLC18A3 SLC5A7 COL13A1 NEXMIF HTT PNKD SYT2 PRRT2 ATXN1 MYO9A SYNJ1 HP_STOOPED_POSTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STOOPED_POSTURE POLG ATP13A2 MECP2 SLC18A2 COL12A1 TK2 HP_ABNORMAL_VISUAL_FIXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VISUAL_FIXATION CNGB3 PDE6C ITPR1 RPGR ASAH1 RNF13 PDE6H CLP1 GBA PIGB PTPN23 RANBP2 VPS4A ASPA VPS41 DPM1 SLC39A8 ATF6 PET100 VPS13D GNAT2 CNGA3 HP_VISUAL_FIXATION_INSTABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VISUAL_FIXATION_INSTABILITY VPS4A ASPA ITPR1 ASAH1 SLC39A8 RNF13 PET100 CLP1 HP_ASTHENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASTHENIA MAN2B1 NSDHL PIGA DGUOK PLEKHM1 MTHFD1 HP_DIFFUSE_ALVEOLAR_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFUSE_ALVEOLAR_HEMORRHAGE RARA COL3A1 TBL1XR1 ZBTB16 BCOR STAT5B NABP1 NUMA1 NPM1 STAT3 PML IRF2BP2 NLRC4 FIP1L1 PRKAR1A EIF2AK4 HP_ABNORMAL_LARYNX_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LARYNX_MORPHOLOGY SEC24C RPL10 SPECC1L RTL1 FOXE1 SMAD4 AHDC1 COMT GMNN COL12A1 LMNA WRN JMJD1C SERPING1 HYLS1 SNIP1 POR DDRGK1 KANSL1 WDR35 HOXD13 LAMB3 TBX3 C2CD3 KIF22 ARSL KRT5 SOX9 SPTBN1 DYNC2I1 EFL1 GLI3 VPS13B MATR3 ATP6V1E1 FGFR2 NEK1 IFT80 ASXL3 AFF4 ADARB1 FREM2 NIN FGFR3 MGP DYNC2I2 PLG EDN1 EIF4A3 PTH1R GIPC1 KAT6A HIRA SEMA3E DLK1 SCARF2 DYNC2H1 EP300 KRAS SYT1 CREBBP KIF7 FRAS1 FGF10 SF3B4 TBX1 GRIP1 KRT14 MYMK POLR3A HDAC4 MAP3K7 GALC KCNMA1 UBE3B UFD1 HSPG2 KAT6B AMER1 PKDCC NFIX FERMT1 BRF1 ZNF699 MEG3 SIAH1 PUF60 LTBP4 RALGAPA1 SOX4 SATB2 PRRX1 LAMC2 GP1BB MEIS2 TONSL INTU EXTL3 HS3ST6 FLNA LBR FLNB ARVCF CAPN15 APC LAMA3 SLC26A2 SETBP1 MT-CYB PCNT RREB1 ASAH1 PRMT7 TCTN3 CHD7 ORC6 PSAP HAAO LTBP3 LRP4 RAF1 LRP12 HP_ABNORMAL_LARYNX_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LARYNX_PHYSIOLOGY DCTN1 PON2 ANG PPARGC1A PON1 TAF15 UBE3B SQSTM1 SOD1 CHMP2B CFAP410 BRF1 PLP1 GLE1 ATXN2 PON3 C9orf72 GLT8D1 OPTN ERBB4 EPHA4 CHCHD10 TSPYL1 TREM2 UBQLN2 UNC13A DAO TARDBP FIG4 VAPB NEFH FUS CASR SRPX2 PRPH HNRNPA1 MATR3 SCN4A TBK1 GABRG2 VCP ASAH1 TAF1 NEK1 GRIN2A ANXA11 CCNF BTD PFN1 HP_ABNORMAL_BRONCHUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRONCHUS_MORPHOLOGY TNFRSF13B RSPH3 FCHO1 RTEL1 CFAP221 DNAH1 ODAD2 STX3 NFKB2 DNMT3B CTLA4 DSP TAP1 DNAAF1 DDRGK1 TAPBP RSPH1 MUC5B ICOS CD79A TAP2 CD81 MPEG1 IL2RG ARSL IDS EGFR FGFR2 SOX9 DNAL1 CXCR4 MYRF CCNO TPP2 PGM3 PIK3R1 DNAJB13 CD8A TET2 RSPH9 DRC1 FLNB RAC1 LAT BACH2 CCDC40 MGP DNAAF3 CD19 ARHGEF1 CCDC65 ODAD1 SYK TNFRSF13C BLM SCNN1A SPEF2 ERF CCDC39 SFTPA1 CCDC103 SLC34A2 FGFR1 CD79B B2M CARMIL2 CFAP298 ZNF699 DNAH11 LRRC8A FCGR2A UNC119 WDR1 SCNN1B CFTR CFAP300 ODAD4 SMARCA2 ABCA3 HLA-DRB1 DNAAF11 GAS8 RSPH4A TNFSF12 NEK10 TGFB1 CR2 SLC26A2 MCIDAS NME8 ATP11A STN1 POLA1 ORC6 DNAH5 RPGR PARN NFKB1 HYDIN ATM RASGRP1 GMNN ZNF341 DNAAF2 MAGT1 IGLL1 DPP9 POR PIK3CD SCUBE3 DNAH9 EHMT1 SLC29A3 SCNN1G DNAI2 DNAAF4 KRT5 TTC12 SPAG1 HRAS MYH11 BTNL2 DNAAF6 FOXJ1 ZMYND10 DNAI1 TERT LRRC56 IL21R IL6ST STAT1 NCKAP1L GAS2L2 IGHM RIPK1 SFTPA2 KRT14 BLNK RIN2 GNPTAB IL17RA RAC2 NBN ODAD3 LRBA ORC4 LTBP4 MS4A1 SFTPC TERC TCF3 DNAAF5 FAM13A PRKCD STK36 OFD1 IRF9 IRF8 HP_ABNORMAL_BRONCHUS_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRONCHUS_PHYSIOLOGY CCL11 ADRB2 TNF IFNGR1 MUC7 ATRX HLA-G HNMT MPLKIP GTF2E2 TBX21 TARS1 ERCC3 PLA2G7 DAXX PTGER2 RNF113A SCGB3A2 GTF2H5 ERCC2 ALOX5 IL13 ACAN SDHD TSPYL1 HP_BRONCHOSPASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRONCHOSPASM GTF2H5 TARS1 ERCC2 ACAN ERCC3 ATRX DAXX SDHD MPLKIP RNF113A GTF2E2 TSPYL1 HP_ABNORMAL_CRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CRY SIM1 SPECC1L COLQ PPP1R21 EXOSC9 SLC18A3 ABAT MYH7 FUZ ATP5F1A IGHMBP2 TSHR LAMA2 SNRPN VAMP1 MAGEL2 RAPSN TPM2 SNAP25 ZNF699 CHAT COL13A1 GFPT1 ASPA LAMA3 CTNND2 NIPBL RYR1 TSPYL1 TPM3 AGRN COQ9 CHRNE OPA1 FKTN MECP2 ACTA1 SYT2 MYO9A VPS13B TRIP4 LAMB2 ASAH1 SLC25A1 CHRNA1 PNPO SLC5A7 SEMA5A SELENON CRYAB HP_INCREASED_CIRCULATING_LACTATE_DEHYDROGENASE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_LACTATE_DEHYDROGENASE_CONCENTRATION STAT4 RHAG HLA-DRB1 TCIRG1 RB1 KY ACAD9 MYC HELLPAR SLC19A1 FLI1 LYST PNPLA2 PITRM1 SLC7A7 KCNN4 PIEZO1 USB1 JAK2 IRAK1 TP53 CFI RPS14 CALR MVK OCRL MPL VPS13A SLC4A1 SLC25A13 HBB RHCE TET2 CPT2 LIPA GAA RHD SPP1 PLEC CHEK2 PIGA PLA2G6 CFH CD46 HP_PHARYNGITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHARYNGITIS SRP54 P4HA2 HLA-B GFI1 ELANE HLA-DPB1 TCIRG1 SLC29A3 XIAP SH2D1A CXCR4 PTPN22 ALG12 NFKB2 TNFRSF1A HLA-DRB1 HP_TESTICULAR_ADRENAL_REST_TUMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TESTICULAR_ADRENAL_REST_TUMOR CYP11B1 NNT MC2R MRAP STAR TXNRD2 HP_PYODERMA_GANGRENOSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PYODERMA_GANGRENOSUM MEFV WDR1 ELANE SRP54 GFI1 PSTPIP1 TCIRG1 NFKB1 HP_ABNORMAL_CSF_METABOLITE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CSF_METABOLITE_LEVEL NDUFS4 SLC2A1 HSD17B10 MPV17 SURF1 PET117 TRMT10C MT-TS1 RNASEH2C MT-TL1 NGLY1 RPIA MT-ND5 NDUFAF4 MT-ND6 PDHA1 MRPS34 COX14 AIFM1 COX20 COA8 NDUFS7 TLR3 MTFMT NDUFAF2 MT-ATP6 COX10 RNASEH2A TICAM1 PET100 NDUFV2 GCH1 DARS2 TREX1 PNPO SLC25A19 MT-CO2 SPTBN1 NDUFA9 NDUFA12 MT-TN NDUFAF6 TXN2 SUCLG1 MT-ND3 NDUFS1 NDUFS2 COQ8A NDUFB11 NDUFS3 MT-TS2 COX15 NDUFA11 NAXE LRPPRC MT-ND1 NDUFA10 IFIH1 MECP2 TSPOAP1 MT-TK HPDL SCO2 SAMHD1 UNC93B1 MDH2 MT-ND2 NDUFAF5 MT-ND4 NDUFA2 HTRA2 NDUFA13 COX8A ECHS1 TH TRAPPC12 NDUFV1 MT-TH SLC39A8 KARS1 PDHX NDUFA4 NDUFAF8 MT-CO3 TBK1 NDUFAF3 NDUFS6 MT-CO1 NDUFA1 NDUFA8 MT-TW RNASEH2B PNPT1 TIMMDC1 GFM2 TACO1 ALDH4A1 SDHA LIPT1 NDUFB8 MT-TF SLC19A3 FOXRED1 NUBPL LONP1 TRAF3 MT-TQ SLC13A3 NDUFA6 NDUFB10 RARS2 MTRFR MT-TV NDUFB9 COX4I1 COX6B1 NDUFS8 GFM1 NARS2 ADAR NDUFAF1 NDUFB3 RMND1 TMEM126B DDC HP_ABNORMAL_CSF_PROTEIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CSF_PROTEIN_LEVEL NDUFS4 RRM2B CACNA1A SLC12A6 SCN1A NGLY1 PSAP MT-TS1 GFAP MT-CO3 ARSA MT-TL1 GALC TBK1 SLC12A2 MT-ND6 TTR MT-CO1 POLG ABHD5 TLR3 MPZ TXN2 PRF1 TICAM1 FTL OCLN RANBP2 ALDH4A1 CD59 MT-TF MT-CO2 HLA-DRB1 PHYH HLA-DQB1 TRAF3 MT-TS2 MT-TQ BTNL2 PEX7 PMP22 PRNP BCAT2 NOTCH2NLC SUMF1 UNC93B1 MT-ND1 LMNB1 MT-TW TYMP MT-ND5 ATP1A2 EGR2 PRRT2 MT-TH MT-ND4 PRX SH3TC2 HP_ABNORMAL_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CELL_MORPHOLOGY RRM2B PATL2 TYMP ZCCHC8 TUBB8 RYR1 ATXN2 RTEL1 RPL3L RELA WEE2 GYG1 TERT CACNA1S ACTN2 DSP PARN ZP2 POLG ZFTA MDM4 PNPLA2 HP_ABNORMAL_CIRCULATING_BETA_GLOBULIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_BETA_GLOBULIN_LEVEL CIITA TF RFXAP RFXANK ALB RFX5 HP_ERYTHEMATOUS_PLAQUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERYTHEMATOUS_PLAQUE MEFV COL2A1 CARD14 RASA1 TRPM4 SDHD COL7A1 HAVCR2 LDHA HP_ATRIAL_STANDSTILL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATRIAL_STANDSTILL SCN5A GJA5 RYR2 TRDN NPPA CASQ2 HP_ABNORMAL_CIRCULATING_THYROGLOBULIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_THYROGLOBULIN_LEVEL TSHR TG TRHR SLC5A5 SLC35A2 DUOX2 DUOXA2 IYD TSHB TPO HP_ABNORMALITY_OF_BLADDER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_BLADDER_MORPHOLOGY WNT4 MYH11 ATP7A NKX2-1 BAZ1B LMOD1 COL1A1 MKKS ACTG2 GTF2I CDH11 MKS1 TP63 GTF2IRD1 CLIP2 ALG9 ELN MYL9 POR ABHD11 SALL4 LAMB3 MBTPS2 ITGA6 PIGN KRAS FOXF1 LTBP4 GTF2IRD2 LAMC2 AQP2 EIF4H STK11 ITGB4 LAT2 MYRF COL3A1 COL1A2 STX1A NCF1 SMAD3 RFC2 UPB1 FKBP6 ISL1 MYLK CLDN4 DNAJC30 VPS37D GRIP1 RAC2 FBLN5 PAH SLC35A2 MLXIPL LAMA3 MYOCD COL5A1 BUD23 COL5A2 FKBP14 TMEM270 SMARCA2 EFEMP2 METTL27 PLOD1 BCL7B FREM2 TBL2 LIMK1 CLDN3 AVPR2 PLEC HP_OVERWEIGHT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERWEIGHT TRHR THOC2 CEL KLF11 IGSF1 SATB1 AP4B1 NEUROD1 PROP1 LHX4 AP4M1 BLK USP7 CHD8 AP4E1 HNF4A APPL1 ABCB4 GCK PDX1 FOXP1 POU1F1 TRIP4 LHX3 PAX4 UNC45B KCNJ11 HESX1 ACADVL ABCC8 INS SPG11 HNF1A AP4S1 CFAP418 SPTBN1 HP_MORNING_GLORY_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MORNING_GLORY_ANOMALY OPA1 PAX6 PAX2 TMEM237 DNM1L HP_HYPOPLASTIC_HIPPOCAMPUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASTIC_HIPPOCAMPUS GRIN1 OSTM1 VPS13A NDE1 SCN1A SLC35A2 CAMTA1 VPS51 CARS2 HP_ABNORMAL_B_CELL_SUBSET_DISTRIBUTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_B_CELL_SUBSET_DISTRIBUTION BACH2 LRBA CD19 IKBKB LCP2 TET2 RASGRP1 SOCS1 CTPS1 PRKCD IRF2BP2 ICOS SP110 IL21 PIK3CD IL6R HP_ABNORMAL_T_CELL_SUBSET_DISTRIBUTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_T_CELL_SUBSET_DISTRIBUTION CASP10 LCP2 RASGRP1 CTPS1 KNSTRN MAGT1 EPG5 CD247 CD3E CIITA FOXN1 RAG2 CD3G HLA-DPB1 ZAP70 FOXP3 UNC119 LCK LEP WDR1 WAS IVNS1ABP FAS IL2RG LEPR EXTL3 RFXANK OTULIN PRKCD ATP6AP2 DCLRE1C CD8A AP3B1 FASLG WIPF1 RFXAP MYC BLM IL7R BCL10 SMARCAL1 RAG1 RFX5 LAT ITK NSMCE3 IKBKB CD3D SYK CASP8 PIK3CD NCKAP1L CD4 PGM3 ATM PNP IL2RA HP_ABNORMAL_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION KCNN4 SLC4A1 SPTA1 TARS1 EPB42 PIEZO1 HBB ERCC3 SPTB RNF113A ANK1 HELLPAR GTF2H5 ERCC2 RHAG CFI CFH MPLKIP CD46 GTF2E2 HP_DECREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION HELLPAR HBB RHAG CFI CFH CD46 HP_INCREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION KCNN4 SLC4A1 SPTA1 TARS1 EPB42 PIEZO1 ERCC3 SPTB RNF113A ANK1 GTF2H5 ERCC2 MPLKIP GTF2E2 HP_ECCENTRIC_VISUAL_FIXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECCENTRIC_VISUAL_FIXATION CNGB3 PDE6C RPGR ATF6 PDE6H GNAT2 CNGA3 HP_OPTIC_NERVE_MISROUTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPTIC_NERVE_MISROUTING TYRP1 SLC38A8 OCA2 MC1R SLC45A2 HP_ABNORMAL_MORPHOLOGY_OF_THE_CHOROIDAL_VASCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MORPHOLOGY_OF_THE_CHOROIDAL_VASCULATURE XYLT1 ABCC6 C1QTNF5 ENPP1 FBN2 CFHR1 TIMP3 XYLT2 GNAQ MAPKAPK3 KRIT1 CFH FBLN1 AGXT CFHR3 APOE HMCN1 FBLN5 CFI CCM2 PRPH2 PDCD10 HLA-A EFEMP1 HP_MACULAR_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULAR_HEMORRHAGE CFHR3 APOE HMCN1 CFH CFHR1 EFEMP1 CFI HP_ABNORMAL_LEFT_ATRIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LEFT_ATRIUM_MORPHOLOGY FLNC SCN5A KIF20A MYL3 MYPN GYS1 TNNI3 RARB STRA6 TLL1 FHOD3 TNNT2 SCN1B HP_ABNORMAL_RIGHT_ATRIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RIGHT_ATRIUM_MORPHOLOGY TBX20 KIF20A MCM10 MYPN TNNI3 ACTC1 GATA4 RPL3L TLL1 FLNC NOTCH1 CITED2 GATA6 MYH6 TNNT2 NKX2-5 HP_POSTERIOR_BLEPHARITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTERIOR_BLEPHARITIS SREBF1 GATA1 UROD MBTPS2 UROS HP_FOCAL_EMOTIONAL_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_EMOTIONAL_SEIZURE KDM5B STXBP1 NGLY1 GLI3 MED12L CUX1 CIC EEF1A2 MBD5 KIF1A DOCK8 PACS1 CDH15 CACNG2 TAOK1 GRIN2B KIRREL3 PPP3CA PHGDH CHAMP1 EPB41L1 ASH1L SYNGAP1 DEAF1 RAB11A BRSK2 CSNK2B GRIN1 CLTC ZMYND11 TRPM3 DYNC1H1 SET DLL1 KCNQ5 NBEA MYT1L HIVEP2 CAMK2B SETD1B CAMK2A TCF4 HP_ABSCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSCESS PSENEN IL10RA RIPK1 ENG LCP2 CDKN2A BRCA2 NCF1 CYBC1 CYBB IL17RA TP53 DLX3 CARMIL2 IL1RN ITGB2 NTRK1 ELANE MNX1 IRAK4 SMAD4 PALLD MPEG1 IKZF3 WDR1 RABL3 NCF2 BRCA1 CYBA PKHD1 IL6R ACVRL1 PGM3 BTK DDR2 DMP1 NCF4 FGF23 BLM ABCB4 RAC2 PHEX CTSC PSEN1 TTC7A IKBKB IL10RB UBE2A KRAS VANGL1 MEFV TGFB1 MYD88 PALB2 ENPP1 PSTPIP1 HP_ABNORMAL_URETER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URETER_MORPHOLOGY FIBP TMEM107 LMOD1 DMXL2 GPC4 MKKS BCOR TRIM8 NODAL TMEM231 GATA6 BRCA2 DYNC2LI1 EVC FLNA SCN2A FANCE SLC6A17 RAB23 LAMB3 TCTN3 ITGA6 DDB1 PIGT NSD1 NADSYN1 MBTPS2 FOXF1 PIGQ MYH11 NEUROD2 RPGRIP1 ERCC8 AVPR2 GLI1 LONP1 FANCI AQP2 PNKP TBX18 GLI3 FAM20C SMC3 TCTN1 ACTB SOS1 WFS1 PBX1 SLX4 SCN1B B9D2 FANCA FUZ CSPP1 ACTG1 SETD2 APC2 PORCN FANCL CHRM3 KCTD1 EDNRA KCNA1 VANGL1 MKS1 SETBP1 PIGP RFWD3 ARID1B KIF14 ERCC4 PSMD12 SOX17 NPHP3 TMEM216 ACTG2 GNAO1 XRCC2 FANCB SOS2 ERCC6 PEX6 CDKL5 HNF1B EVC2 ALG9 CASK ARX CC2D2A ZMPSTE24 LHX1 PIGN NAA10 GPC3 PLD1 RNU4ATAC RPGRIP1L LAMC2 SIK1 ITGB4 FANCF COL18A1 CPT2 TMEM67 SPINT2 FANCC TP63 B9D1 MYLK AXIN1 PIEZO2 LMNA UBE2T B3GLCT FANCG LAMA3 CEP55 RIPK4 RAD51 TCTN2 HPSE2 NDUFAF3 BRCA1 BRIP1 FANCD2 TXNDC15 STXBP1 SLC25A22 FANCM PALB2 EPG5 HS2ST1 TMEM237 MAD2L2 PLEC CEP290 RAD51C HP_ABNORMAL_URETER_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URETER_PHYSIOLOGY HOXA13 ZMIZ1 GTF2I HDAC8 PIGA CDH11 HLA-DPA1 CCNQ GTF2IRD1 KMT2D DSTYK MYCN KANSL1 TAF13 SPOP LAMB3 ANKLE2 MBTPS2 HNF1B RERE KCNQ1OT1 TNXB PHC1 CENPJ KAT5 METTL5 PYCR2 TP63 GREB1L ZEB2 CHRNA3 APC2 FGFR3 EYA1 EFEMP2 METTL27 NIPBL TBL2 MCPH1 SHANK3 SEMA3E EP300 MAP3K7 CDK6 STRA6 NKX2-1 FLNA OTUD5 LRIG2 PIGN SALL1 CEP152 SASS6 TRAPPC14 SALL4 ASPM HNRNPU FGFR2 RARB DVL3 PPP3CA EHMT1 LAMC2 EXT1 PAX2 YY1 COL18A1 MNX1 NCF1 ATP7A TRPS1 HLA-DPB1 RFC2 SLC26A1 ACTG2 HPSE2 DNAJC30 IGF2 HNRNPK PIGQ PIGL LAMA3 PAX6 PRMT7 NRIP1 PSMD12 CHD7 UBE2A BCL7B KIF14 WDR62 ARNT2 DDX6 RAD21 RECQL4 SEC24C STIL SIX1 GATA3 PRTN3 FANCI COMT NODAL ATRX JMJD1C CLIP2 ABHD11 SH2B1 CDC45 FANCF COPB2 SDHAF1 NSD1 ELN ROBO2 MFSD2A EIF4H CCBE1 NCAPG2 TBX18 CEP135 LAT2 KDM6A HSPA9 STX1A BNC2 PBX1 RPL11 CREBBP JAG1 CDKN1C AFF4 BICC1 FUZ DHCR7 FBLN5 SLC35A2 SETD2 BPTF MLXIPL CHRM3 BRD4 BUD23 ASXL1 VANGL1 SETBP1 HIRA CEP63 CDK5RAP2 DACT1 LIMK1 CLDN3 TRRAP MYOD1 FGF10 SOX17 TBX1 BAZ1B POLR3A PIGT KCNQ1 KNL1 UFD1 EBF3 STAMBP SMC3 PIGO SDHB PUF60 RALGAPA1 SMC1A GTF2IRD2 GP1BB PTPN22 SIX5 GRHPR FKBP6 ARVCF POR ISL1 SDHA CIT CHD4 UNC45A CLDN4 VPS37D BRF1 NCAPD3 RREB1 TMEM270 NFIA CTLA4 HAAO KMT2C SDHD HP_BILATERAL_POLYMICROGYRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_POLYMICROGYRIA KDM5B STXBP1 SRPX2 MED12L CUX1 CIC EEF1A2 MBD5 KIF1A DOCK8 CDH15 CACNG2 TAOK1 GRIN2B PI4KA KIRREL3 PPP3CA CHAMP1 EPB41L1 ASH1L SYNGAP1 DEAF1 RAB11A BRSK2 CSNK2B CLTC ZMYND11 GRIN1 TRPM3 DYNC1H1 SET DLL1 KCNQ5 NBEA MYT1L HIVEP2 CAMK2B ADGRG1 SETD1B CAMK2A TCF4 HP_LAGOPTHALMOS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LAGOPTHALMOS NGLY1 RIPK4 LMNA POLR3A ZMPSTE24 HP_SINGLE_FIBER_EMG_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SINGLE_FIBER_EMG_ABNORMALITY DPAGT1 GFPT1 ALG14 ALG2 GMPPB HP_ABNORMAL_FEMALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FEMALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY GNRH1 PPARG HDAC8 GALK1 DUSP6 DNM1L F7 HERC2 FLI1 SEMA3A LMNA FMR1 TRMT10A CDKN2B KISS1 FOS SOX3 GNAS GPR101 ANOS1 NR5A1 LIPE F13A1 FAS ROBO1 FIP1L1 PRKACG CISD2 F11 CAVIN1 MRPS22 HFE AGPAT2 MSTO1 PRKAR1A AIP CDKN1C LMAN1 PIK3CA MSH5 NIN WDR11 FGF8 DCAF17 BCOR PSMC3IP DMRT3 SLFN14 NPHP4 CLEC7A FIGLA DHH CCDC141 PDGFB PHKG2 TACR3 RNF216 TP63 BNC1 PLAG1 BAP1 MCFD2 NDN CYP17A1 ERCC6 WNT4 POLG CDH23 GHR HESX1 VPS13C TRAF3IP1 ALMS1 LIG4 TWNK PROK2 HFM1 WWOX GATA3 FGF17 PRLR FOXL2 DHX37 FOXA2 FSHR LHX4 CLPP AKT2 PROKR2 ITGA8 SNRPN ANTXR1 PTPN11 PML SERPINE1 ATM RAD21 BMP15 NR3C1 ANAPC1 F5 POLG2 SRA1 MCM8 HSD17B4 PHKA2 CDKN1B GP1BA SLC29A3 MAGEL2 TRAF3IP2 VWF IL17RC ZFPM2 IRF5 SPRY4 RIN2 HMGA2 ITGB3 FLRT3 PROP1 ZBTB16 SMCHD1 PINK1 BPTF C14orf39 ESR1 MCM9 FGFR1 BRD4 F8 SNORD116-1 CPE PSMB8 B4GALNT1 NSMF BSCL2 LRRK2 SMO CEP290 UCHL1 GDF9 IQCB1 FSHB LHB GP1BB INVS AR NBN CCN2 PDE4D NBEAL2 SLC25A13 SOX9 PWRN1 WT1 STAT5B POU1F1 HSF2BP F10 GP9 SPIDR MKRN3 PWAR1 BMPR1B WDR19 PMM2 CDKN2C MAP3K1 NR0B1 CDKN1A FEZF1 CAV1 BLOC1S5 TAC3 MYH9 SRY SYNJ1 SIM1 GATA4 ITGA2B HS6ST1 RTN2 SDCCAG8 NUP107 LEP CYP11B1 LEPR AKT1 NABP1 GPR161 UBAP1 SYCE1 BMP4 BLOC1S3 POF1B PODXL TFR2 RARA HPS4 PLAU CHD7 H6PD EIF2B5 ERCC8 KISS1R MCM3AP NIPBL AXL VAMP7 SOX10 COQ2 PLIN1 USP8 CYP19A1 LARS2 MEN1 TTI2 CYB5A TBL1XR1 SLC37A4 ZMPSTE24 HTRA2 TRAF7 ATP7B TKT GALT EIF2B2 OCA2 DIAPH2 PEX6 FGG RCBTB1 IL17RA SOHLH1 AIRE IKZF1 IL17F SUFU PARK7 HARS2 GNRHR PSMD12 NUMA1 IRF2BP2 NPHP3 STAG3 AARS2 PAPSS2 SEMA3E WRN HLA-B RASGRP1 THOC6 WAS ERAL1 ABCD1 SMARCB1 POLR3H IL17RD CASP10 IGF2 DCC WNT7A CTDP1 BMP2 EIF2B1 F2 PRKN NF2 SMARCE1 AGGF1 CCR6 SNCA SETD2 NPM1 PEX1 CEP164 NOBOX TERT XRCC2 NDNF HLA-DRB1 FANCM FGA GLI2 WIPF1 HAMP DNAJC6 OTX2 GP6 SMC3 HPS5 BBS9 FGB YARS1 SMC1A EIF2B4 STUB1 ESR2 PRKCD HJV ARMC5 POR NPAP1 BLM NPHP1 FASLG PCSK1 F13B CDON CIDEC EIF2B3 STAT3 TBL1X SNORD115-1 HP_FEMALE_SEXUAL_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEMALE_SEXUAL_DYSFUNCTION GNRH1 FGFR1 CHD7 DUSP6 TACR3 CCDC141 HS6ST1 NDNF HLA-DRB1 MEN1 SEMA3A HLA-B FGF17 RTN2 CCN2 DNAJC6 WDR11 ABCD1 KISS1 CDH23 ANOS1 VPS13C IL17RD GNRHR TRAF3IP2 HTRA2 IL17RC DCC PROKR2 IRF5 PROK2 SPRY4 COQ2 FLRT3 IL17RA PINK1 FSHB PRKN IKZF1 UBAP1 AIP FEZF1 FGF8 IL17F PODXL KISS1R CCR6 PARK7 CAV1 HESX1 SNCA TAC3 SOX10 NSMF LRRK2 UCHL1 CLEC7A SYNJ1 HP_DYSPAREUNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSPAREUNIA FGFR1 CCDC141 DUSP6 TACR3 FLRT3 HS6ST1 NDNF HLA-DRB1 IL17RA MEN1 SEMA3A IKZF1 HLA-B AIP FGF17 FEZF1 CCN2 IL17F WDR11 PROK2 FGF8 CDH23 CCR6 CAV1 CHD7 HESX1 ANOS1 IL17RD TRAF3IP2 SOX10 SPRY4 IL17RC DCC PROKR2 IRF5 CLEC7A HP_INCREASED_FEMALE_LIBIDO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_FEMALE_LIBIDO GNRH1 FGFR1 KISS1 CHD7 FGF17 GNRHR TAC3 TACR3 HS6ST1 DUSP6 NSMF FGF8 PROKR2 PROK2 SPRY4 KISS1R WDR11 HP_ENCHONDROMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENCHONDROMA POLR1C TCOF1 IDH2 POLR1D RNASEH2C IDH1 RNASEH2B RNASEH2A ACP5 ADAR TREX1 PTPN11 COL2A1 IFIH1 SAMHD1 PTH1R POLR1B HP_HIP_SUBLUXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIP_SUBLUXATION BICRA PLOD1 EIF4A3 DDR2 LMNB2 NEPRO KIF22 AFF4 SLC35A2 NFIX TRAPPC12 EIF2AK3 B3GALT6 DHCR7 IFIH1 THOC2 TONSL HP_FLEXION_CONTRACTURE_OF_DIGIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLEXION_CONTRACTURE_OF_DIGIT ERCC2 GNRH1 LMBR1 RTL1 SATB2 LFNG ALX3 FAT4 SH3PXD2B MYH3 FBN1 TBC1D2B COL12A1 TPM3 TRPV4 DPM1 RAB23 KISS1 SVIL MMP23B MBTPS2 PPP2R5D MYO9A ANTXR2 SMOC1 SPEN SMAD3 ZEB2 ZNF469 CDK13 FGFR3 EFNB1 OCRL WDR11 PITX1 NUP188 EZH2 ERCC1 GJA1 NXN MEGF10 WDR4 HACD1 COL11A1 TBX15 HOXD13 RERE PRKCZ TACR3 SLC35A2 PYROXD1 SMS HSPG2 PORCN MAFB NALCN EMG1 PEX5 PIGN CTCF ROR2 MEG3 CDT1 MED12 DVL3 NOD2 PQBP1 PROK2 TPM2 ZDHHC9 OSGEP FGF17 HUWE1 PHF6 KIF15 GMNN MYOD1 MYLPF CNTN1 DPH1 SETBP1 BCR DHODH MMP2 COG5 TP53RK SLC26A2 POR COL6A3 CHN1 ITGA7 EPB41L1 TMEM70 TP63 CAPN3 DVL1 DCHS1 COG1 ORC1 DYRK1A TCTN3 KDM5C ORC4 KIAA1109 LAMA3 SLC29A3 ANO5 SPRY4 ITGB4 GLUL NUP107 ITCH NEFL ATAD1 TOR1A DPAGT1 FHL1 SETD2 UBE4B IDUA ECEL1 FGFR1 MAGEL2 DLK1 SLC39A13 SCARF2 PSMB8 PIEZO2 NSMF LGI4 ATP6V1A COL17A1 RPL10 COL6A1 FBN2 TBX3 CCN6 POLR3GL SMG9 GPKOW FERMT1 NUP133 AUTS2 TGFBR2 NAA10 ALG8 FGFR2 DUSP6 SKI ADAT3 RAPSN CANT1 TBR1 PHGDH CHRNG KCNK9 TUBB3 GDF5 FGD1 ARX COL11A2 EIF5A FZD2 TWIST2 COL6A2 TAC3 PDPN PAX3 SMARCAD1 ERLIN2 GPC4 WDR73 NLRP3 BCOR FLVCR1 RIPPLY2 SLC35A3 HS6ST1 GLI3 CCDC32 NUP88 FBXW11 RTTN PROKR2 LMX1B IDS MYL2 MESP2 NEK9 TNNT3 ABL1 ALX1 PERP WNT5A FKTN BMP4 SNX14 APC2 GORAB SPART TPRKB EED TGFBR1 BRPF1 LIFR CUL4B MUSK FLNA CHD7 CDC42 DLL3 MORC2 ACTA1 ZC4H2 MAP3K7 CDC6 DYM MAF IGHMBP2 AMER1 MYBPC1 ERCC6 GPC3 ECE1 SUZ12 ADAMTS3 MED13L ZMPSTE24 LUZP1 TGDS IKBKG SHH PEX6 LAGE3 ACTG2 MSL3 PIGL CRKL HINT1 ARID1B DSP TNNI2 MED25 TGFB3 LAMC2 ADAMTSL2 PRG4 NOG NT5C2 L1CAM SMAD4 SLC18A3 UPF3B DOK7 MEGF8 NSD1 GNRHR COL3A1 KLHL7 CCBE1 CRLF1 STAC3 C19orf12 KCNAB2 CCDC22 DDR2 ASXL3 DSE FGF8 HES7 KISS1R BHLHA9 SMC1A TRPS1 NKAP ASXL1 MAPK1 SALL4 PEX2 CDC45 PEX1 UBA1 PRDM5 XYLT1 POLR3A CLCF1 WIPI2 FIBP CASZ1 H1-4 COL2A1 PRDM16 JUP SELENON ALG12 ERCC5 CDH3 THOC6 LMNA CHST3 CTDP1 RAB3GAP1 MAP3K20 LAMB3 ORC6 GABRD BGN RIC1 KAT6B HP_ABNORMAL_LATERAL_VENTRICLE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LATERAL_VENTRICLE_MORPHOLOGY DHX37 SATB1 FANCI TUBB2B MBD5 PTPN23 ATP6AP2 ALG2 PSAT1 PDHA1 VPS51 ALG13 ARSI NDUFB11 YIPF5 ZIC1 TNFRSF11A CHAMP1 EPB41L1 DEAF1 SPG11 FBXW11 BRSK2 PIGG CLTC KCNQ5 PPP2R5D NBEA HIVEP2 CAMK2B KDM1A NCAPG2 GLUL KDM5B ANKRD11 KIDINS220 CIC SEC31A PUS3 NEK1 ASXL3 ZEB2 RAC1 CDH15 SLC35A2 CACNG2 KIAA0753 TAOK1 COX7B MAP2K2 KIRREL3 VPS13A WARS2 ASH1L SYNGAP1 EZH2 RAB11A CSNK2B ZMYND11 TUBB3 TRPM3 STAG2 EP300 MYT1L CREBBP DCX STXBP1 ODC1 PPP1R12A EEF1A2 ACP5 KIF1A SON GRIN2B CCDC174 KAT6B SNRPN TUBA8 NFIX GFM2 GRIN1 ERMARD CSPP1 ZNF462 GRN SET D2HGDH SETD1B TCF4 MED12L CUX1 LONP1 KIAA0586 PEX10 HCCS DOCK8 HS6ST2 KLHL15 RAB3GAP1 PPP3CA COG5 MPDZ DYNC1H1 DLL1 MED25 GCDH CAMK2A HP_COLPOCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLPOCEPHALY TUBA8 ANKRD11 DHX37 PPP1R12A KIAA0586 FANCI SEC31A NDUFB11 MPDZ PEX10 HCCS ERMARD CSPP1 ZNF462 STAG2 ARSI COX7B KDM1A KAT6B NCAPG2 HP_TIP_TOE_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TIP_TOE_GAIT ADSS1 MT-TE KIDINS220 DDHD2 HARS1 SGCG KIF1C SPG11 KCNA1 AASS ERLIN1 DYSF DEAF1 HP_INGUINAL_FRECKLING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INGUINAL_FRECKLING POFUT1 POGLUT1 NF1 PSENEN KRT5 HP_STIFF_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STIFF_SKIN SLC29A3 LMNA PSMB8 ZMPSTE24 FBN1 ADA2 SMAD4 HP_UNCOMBABLE_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNCOMBABLE_HAIR SKIV2L TCHH TTC37 TGM3 PADI3 HP_AUTOIMMUNE_ANTIBODY_POSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AUTOIMMUNE_ANTIBODY_POSITIVITY CASP10 FCGR2B HLA-DRB1 CFHR2 IL12A CFHR3 NFKBIL1 GFI1 RASGRP1 SOCS1 LACC1 IFNGR1 GRIN2A RIPK1 TREX1 TNPO3 ANKRD55 PTPN2 CD244 CIITA TNFAIP3 FOXP3 IL2RB IL2RA FAS ADA2 CSF2RB IL10 STAT4 PGM3 ITCH PTPN22 CD247 FCGR3B ADA IL12RB1 CTLA4 NLRP1 IRAK1 BACH2 RHCE STAT1 RHD SPP1 COPA SLC22A4 RHAG STING1 SRP54 ACP5 CYBC1 MMEL1 PLCG2 MS4A1 TNFSF15 IRF5 COL4A6 FCGR2A PRKCD FASLG COL4A5 POU2AF1 FADD NFKB2 SLC7A7 DNASE1 ELANE MMP2 CSF2RA UBA1 TCIRG1 SPIB HP_PRIMITIVE_NEUROECTODERMAL_TUMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMITIVE_NEUROECTODERMAL_TUMOR PALB2 KIF1B KEAP1 GPC4 BDNF BMPR1A PHOX2B TUBB MLH1 FLI1 RERE PRKCZ HSPG2 SPEN CHEK2 BRAF SEMA4A PMS1 KRAS CASZ1 RPS20 BRD4 PRDM16 ASCL1 MMP23B DICER1 RAF1 NSD1 GPC3 FAN1 GDNF MSH6 LUZP1 SDHB RUNX1 YY1 RET PIK3CA TGFBR2 KCNAB2 PMS2 TP53 MYO1H SETD2 UBE4B APC2 MLH3 CDKN2A NUTM1 EPCAM MAPRE2 MSH2 MDM2 NF1 GABRD PDPN EDN3 SKI PTPN11 HP_CENTRAL_PRIMITIVE_NEUROECTODERMAL_TUMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_PRIMITIVE_NEUROECTODERMAL_TUMOR CDKN2A KEAP1 CHEK2 DICER1 MDM2 TP53 HP_LUNG_ADENOCARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LUNG_ADENOCARCINOMA CASP8 MAP3K8 PPP2R1B TP53 SLC22A18 PIK3CA PRKN CYP2A6 FASLG BRAF IRF1 BAP1 NDUFAF6 KRAS EGFR ERBB2 ERCC6 HP_BURKITT_LYMPHOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BURKITT_LYMPHOMA PRKCD CASP10 XIAP SH2D1A RASGRP1 RHOH FAS FASLG MYC HP_ABNORMAL_DRINKING_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DRINKING_BEHAVIOR NKX2-1 PROKR2 NPHP1 HSD11B2 CTNS KCNJ1 ARNT2 CLCNKB OTX2 HNF1B CYP11B1 DZIP1L AVP CDC73 SLC12A3 NPHP3 CLDN16 HNF1A CYP11B2 PKHD1 BBS9 LRIG2 NPHP4 SLC5A2 AVPR2 HESX1 CLDN10 AQP2 CACNA1D LZTFL1 CASR INSR SOX2 HPSE2 SOX3 KCNJ5 KCNJ10 FGFR1 WFS1 ITPR3 IL6 PTPN22 CISD2 TMEM67 NLRP3 HP_CLINODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLINODACTYLY ATR RNU4ATAC A2ML1 KMT2E HOXA13 CCDC32 HMGA2 GTF2I HDAC8 COLEC10 BUB1B ALX3 SH3PXD2B NUP107 HERC2 LMNA TRPV4 MYCN AMMECR1 RTL1 MAN1B1 CDH1 RBBP8 EBP RAB23 SPOP TGFBR2 TCTN3 MMP23B BPTF MCTP2 OBSL1 WDFY3 NUP37 ABCC8 SLC9A7 BRAF GATA5 CBL SPEN RAB18 MAP2K1 FRMPD4 MAP1B DLK1 RBM8A NEXMIF BMP2 CDKN1C PTCHD1 ACVR1 CDK13 SIN3A SOS2 EFNB1 ARX GRIA4 NIN COG8 CENPE NKX2-5 PTH1R NUP188 BMPR1B PLXND1 CSGALNACT1 NXN ACTL6B KCNMA1 TBL2 SHANK3 SOS1 RFWD3 NOG ERCC4 NKX2-6 KCNJ11 BHLHA9 FBXO11 CLCF1 RAC3 AKT1 HUWE1 PIGN TP63 COL11A1 NRAS MIA3 KCNJ2 MKS1 SATB2 TBX15 HOXD13 RERE PRKCZ PLAG1 PTPN23 UBR7 KCNK4 SYP NDN FAT4 IGF2 SSR4 EMG1 WDR4 DLG3 DVL1 RSPRY1 GPC4 DLEC1 CTCF ROR2 MEG3 PHIP CDT1 MED12 DVL3 MAPK8IP3 FGFR3 EXT2 PQBP1 CACNA1G YY1AP1 SOX6 NCF1 CREBBP HPDL POLE ATRX SMARCC2 KIF15 PUF60 PUM1 DNAJC30 BRCA1 GMNN MYLPF SALL1 CCDC8 BCORL1 RRAS2 KDM4B SRCAP CEP55 B3GALT6 YWHAE BCR SNRPN PSMD12 COG5 CD96 CHD7 BCL7B DMD NSMF AGO2 HIC1 TASP1 POC1A ACSL4 ZNF711 RAD21 CNKSR2 EPB41L1 JARID2 CCNQ MID2 GATA6 LMX1B PTPN11 ARID2 TBX1 BUB1 INTU ZMIZ1 SOX11 BRCA2 C12orf57 GDF1 CEP152 ORC1 GDF5 EVC2 KIF7 RNF216 WASF1 RAB39B KDM5C CHSY1 CDK10 PGAP2 ORC4 SIN3B UBR1 MECOM KIAA1109 GDI1 TRAF7 ELN ARID1B RPS6KA3 PIGH RUNX2 HEPHL1 NIPBL ALG13 CUL7 EIF4H STAG2 MECP2 SLC35A1 ITCH USP27X GJA1 CITED2 PACS2 HOXA11 NSUN2 SVBP FANCA RRAS LIG4 DPAGT1 TANC2 IFT52 PPP2R1A MED27 UBE4B H19 BRD4 BUD23 PLK4 CNOT3 ATG7 SNORD116-1 MAGEL2 PIK3CD DACT1 TCF20 CLDN3 TFAP2B GATA4 SOX5 IGF1 MYOD1 FGF10 MTRR TBC1D24 IQSEC2 KAT8 ODC1 FANCB IGF1R NPR2 RPL10 TBX4 HSPG2 DSP TCF4 TBCK KMT2A CPLANE1 XRCC4 SMC1A PWRN1 NAA10 UPF3B SIAH1 RBM10 RALA KDM1A ERMARD ZNF462 SLC29A3 USP9X STAG1 MKRN3 DOCK3 LEMD3 PWAR1 MACROH2A1 NARS1 QRICH1 MED13L FANCF CLCN4 CANT1 PNPLA6 KIFBP ZNF292 PHGDH GJA5 B3GLCT FGD1 KIAA0753 VPS13B JAG1 POMP REV3L CEP57 FZD2 TRMT1 EP300 CSNK2A1 TMEM270 TRAPPC4 SATB1 FBXW11 G6PC3 PDPN PHF21A MADD RAD51C MYT1L BUB3 RIT1 BCOR CHRNA7 PIGL GTF2IRD1 KNSTRN RAI1 DEAF1 KRAS ESCO2 DLX5 RAF1 OFD1 BBS7 NTNG1 TRIO FLII ATRIP ZNF41 TRIP12 SLC2A10 PIEZO2 PIGV TRMT10A NFIX ZNF81 ANKRD11 SMC3 TNNT3 TELO2 SLX4 ABL1 ALX1 SLC12A2 KPTN POLA1 WNT5A AGTR2 BMP4 SNX14 ZFPM2 IFT43 SPART FTSJ1 PAK3 MBD5 PAX3 PIGY MASP1 DPF2 FLT4 CNOT2 EVC EZH2 METTL27 MAPK1 SEMA3E CDC6 BLM XYLT1 ZC4H2 FGFR2 TRAPPC9 CKAP2L ATP6V1B2 SHOX CUL4B SMARCB1 PAX1 CDC42 IRX5 LMNB2 XRCC2 INPP5E HS2ST1 HDAC4 SPRTN TRAIP UBE3B DYM PUS7 PCNT DLX3 PTEN AMER1 PKDCC NEK1 PIGS PPP1R15B RHOA PDE6D SPECC1L GPC3 SUZ12 TFAP2A DONSON LUZP1 TGDS SMARCA2 WDR19 NONO RLIM LMBR1 IFT122 SHH ACTL6A DCHS1 FANCC RFC2 USP7 PIGW KCNJ5 COL2A1 FAM149B1 UBE2T PAH CRKL FOXP1 RAD51 SMARCD1 OGT FN1 SNRPB MED25 PGAP3 AFF2 ARID1A IL11RA MAD2L2 PALS1 RAB11B RB1 SOX4 L1CAM PRKACB SMAD4 SMOC1 TBX5 ARHGEF6 CLIP2 FANCE ABHD11 PCGF2 WDR35 DHPS SMARCE1 WNT7A FANCI FLNA NCAPG2 ALG3 LAT2 STX1A KCNAB2 CCDC22 TMEM216 PAFAH1B1 SMARCA4 MLXIPL FANCL EIF4A3 TRPS1 TSPAN7 RNF6 LIMK1 SKI CDC45 TRRAP KDM6B SF3B4 BAZ1B DPYSL5 STEEP1 IHH PACS1 PIGO DDX6 MED13 MRAS IL1RAPL1 WIPI2 MAF PIK3C2A CASZ1 PIK3R1 STAMBP PRDM16 FGFR1 KCNN3 LZTR1 NTNG2 JUP CENPJ FLI1 GTF2IRD2 ALG12 DDX11 PITX1 BRAT1 FKBP6 POR CLDN4 FLNB RASA2 NPAP1 HTT VPS37D TRIP13 FANCG HCFC1 TWIST1 TNRC6B ORC6 WWOX KLF13 BRIP1 FANCD2 MAP3K7 GABRD UBE3A SNORD115-1 FANCM PALB2 KAT6B HP_INCREASED_SERUM_TESTOSTERONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SERUM_TESTOSTERONE_LEVEL GNAS HSD3B2 FSHR POLR3A WNT4 CYP11B1 AR NR2F2 INSR HP_ABNORMAL_MUSCLE_FIBER_PROTEIN_EXPRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MUSCLE_FIBER_PROTEIN_EXPRESSION POMT1 FKTN DYSF MYOT SYNE2 FKRP POMT2 COL6A2 GMPPB COL12A1 LARGE1 TMEM43 CRYAB DAG1 LAMA2 POMK POMGNT1 CRPPA FHL1 SYNE1 LMNA GFER EMD COL6A3 COL6A1 CAV3 HP_ABNORMAL_MUSCLE_FIBER_ALPHA_DYSTROGLYCAN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MUSCLE_FIBER_ALPHA_DYSTROGLYCAN POMT1 FKTN FKRP POMT2 GMPPB LARGE1 DAG1 POMK POMGNT1 CRPPA HP_ABNORMALITY_OF_THE_ENDOMETRIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_ENDOMETRIUM PIK3CA MLH1 GREM1 SDHC THOC6 MSH2 SDHB NTHL1 MSH3 PTEN CDH1 POLD1 SEC23B SLC6A17 MSH6 DMPK USF3 SDHD AKT1 BMPR1A PMS2 MLH3 KLLN POLE HP_PROLONGED_BLEEDING_FOLLOWING_CIRCUMCISION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROLONGED_BLEEDING_FOLLOWING_CIRCUMCISION ITGB3 F2 F5 LMAN1 ITGA2B F13A1 F8 MCFD2 F13B HP_ORAL_CAVITY_BLEEDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORAL_CAVITY_BLEEDING RARA F8 TBL1XR1 ZBTB16 BCOR KIF23 STAT5B NABP1 NUMA1 NPM1 F2 F5 F13A1 STAT3 PML IRF2BP2 F10 FIP1L1 PRKAR1A F13B HP_ABNORMAL_BOWEL_SOUNDS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BOWEL_SOUNDS CCR6 CAV1 SLC5A1 HLA-DRB1 CCN2 ATRX DAXX SDHD IRF5 HP_ABNORMAL_LIVER_PARENCHYMA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LIVER_PARENCHYMA_MORPHOLOGY NPHP3 PMM2 BMPER PTRH2 HLA-DRB1 JAK1 BTNL2 HP_TRUNCAL_TITUBATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRUNCAL_TITUBATION FLVCR1 BRAT1 THG1L ACBD5 FAM126A SLC19A3 HP_CHOLANGITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOLANGITIS CIITA ITCH WDR35 RFX5 PKHD1 RFXAP IL21R CD40LG BCS1L CLDN1 DCDC2 ABCB4 RFXANK IL36RN DZIP1L HP_CHOLANGIOCARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOLANGIOCARCINOMA HFE GPR35 MST1 PKHD1 DZIP1L TCF4 SEMA4D HP_FLANK_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLANK_PAIN MPL TBX18 JAK2 TET2 CALR APRT HP_ABNORMAL_VASCULAR_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VASCULAR_PHYSIOLOGY COL1A1 PROC GTF2I PDSS1 IRF5 ARHGAP31 MGP MT-TS1 ENG UBAC2 COL3A1 RBPJ CAV1 EOGT HLA-DPA1 GTF2IRD1 PTPN22 SLC37A4 MT-ND6 NAGS FBN1 RTL1 SLC25A24 FOXE3 EIF2AK4 AGXT PIK3CA TERT RYR1 MEFV CCR1 KLRC4 FOXF1 NFIX C4A MYH6 F2 TGFB2 SCNN1B ACVRL1 HFE STAT4 GLA TGFB3 FAS BANF1 KRT8 ACTB MT-TS2 P4HA2 GATA6 KRAS ABCC6 TNFSF11 IFIH1 ACTG1 GBA SAMHD1 TREX1 TBX20 IDUA RASA1 JAK2 SNX10 GATA4 HTRA1 METTL27 FLNC TBL2 TLR4 MLX NOTCH1 COQ2 CLCN7 HEY2 MT-TH BRAF NOTCH3 MYLK NKX2-1 NF1 GUCY1A1 AKT1 STING1 HLA-B FIG4 ACP5 COG1 MPL SLC34A2 SON NFU1 HSPG2 CBS LOX MT-CO1 HLA-DRB1 PTEN SH2B3 ADA2 PLOD1 NDUFA8 RNASEH2B PIGN VAC14 ALMS1 ZNF699 CTCF SFTPB MEG3 ZMPSTE24 COL4A1 ELN IL12A-AS1 SERPINC1 LMNA THSD1 TNNT2 CACNA1D IKBKG NCF1 BMPR2 HLA-DPB1 RFC2 MTHFR TGFBR3 MFAP5 DNAJC30 APP CITED2 PIK3C2A GDF2 ERAP1 FOXP1 MT-TW EPHB4 COL5A2 MYBPC3 ACTC1 FKBP14 RPL3L SCARB2 UBE2A ADAR BCL7B CCN2 SLC12A3 MED25 TLL1 MT-ND4 PIGA FGFR1 SMAD4 CRELD1 BRCC3 KIF20A TGFBR2 SPECC1L COLQ ENPP1 PRTN3 LIFR RNASEH2C CLCNKB MT-TL1 COX5A IL23R KCNK3 SCNN1A SLC2A10 COX7B CLIP2 SMARCAL1 SMAD9 KCNJ5 ALB F5 MYH11 ABHD11 KIAA0319L TET2 SCN5A NPPA MMACHC RNASEH2A ANGPTL6 LIPT1 EIF4H MT-CO2 LAT2 MYH7 DAAM2 STX1A MYPN SFTPA2 CTNNB1 PLP1 PROS1 AFF4 FGFR3 IRAK1 NOD2 ACTA2 NKX2-5 COL5A1 MT-ND1 AGGF1 IL12B TGFBR1 BTNL2 CCR6 BUD23 MT-ND5 F13A1 CD55 COX8A KRT18 STAT1 MUC5B COL1A2 SPP1 LIMK1 CLDN3 FLNA RNF213 BAZ1B ABCD4 HABP2 TP53 SMAD2 NDUFB10 TNNI3 MT-CO3 IL10 PRKG1 XYLT2 SCNN1G TBX4 IL12A DLL4 VPS33A THPO ADAMTS13 HBB LAMA2 PPCS MAT2A LBR NT5E GTF2IRD2 MED12 ATP5F1A SLC29A3 MT-TF NR2F2 XYLT1 SFTPC SMAD3 TCIRG1 MT-TQ RNF125 FKBP6 GNAQ PAM16 CLDN4 KCNN4 DOCK6 PIEZO1 CHST3 VPS37D SARS2 MLXIPL GJA1 COX6B1 SLC4A1 LAMB2 PLOD3 CALR TMEM270 CTLA4 FSHR G6PC3 DLK1 HP_NIGHT_SWEATS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NIGHT_SWEATS HLA-DRB1 BCL2 IFNGR1 SLC25A13 TH BCL6 TSPOAP1 NAB2 SDHD STAT6 UBA1 HP_PERIPHERAL_HYPERMYELINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_HYPERMYELINATION MPZ SOX10 MTMR2 PMP22 NEFL HP_ABNORMALITY_OF_CENTRAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CENTRAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY PSEN1 NF1 SATB1 PIGA CCDC47 CACNA1A SLC18A3 GRN MT-ND6 ALG13 NSUN2 NEFL GRIK2 AIMP1 NDP SRPX2 GRIN2A GABRB2 DOLK WASHC4 SH3TC2 SPTAN1 KCNMA1 CTNNA2 ABCC8 NBEA CDK19 SLC13A5 IER3IP1 UBE4A AIMP2 SPEN MT-TS2 ATXN10 PEX3 MAP1B SCN8A GABRG2 ZEB2 NEXMIF DIAPH3 FGF12 PEX12 MYO9A SCN2A ERCC8 CNKSR2 CTNND2 CARS2 KCNA1 SLC6A1 BCS1L MAP2K2 LIPT2 NTRK2 VCP HMGCL SNRPN NGLY1 TRAK1 PRKCZ CDKL5 ERMARD TREM2 PEX6 SLC1A2 PIGP CACNB4 PRRT2 LARS2 ALDH5A1 DOCK7 CABP4 AFG3L2 SIK1 EEF1A2 KCNB1 TRAF3 ERCC4 TMEM106B GRIN2D AP2M1 SLC25A10 B3GALNT2 PEX19 MT-TW KCNT2 UGDH SETBP1 ATP6V1A SLC25A1 KCNJ11 SCN1A IQSEC2 UBA5 CEP85L NEUROD2 YWHAG ST3GAL3 DMXL2 DNM1 ARX NTNG2 PLP1 SYN2 UBE3A ALG2 SLC9A6 POMT1 CYP27A1 PRNP PGAP2 TLR3 EFHC1 CHAT ANTXR1 SLC2A1 GALC KCNQ3 SACS PCK1 CYFIP2 CSTB CHI3L1 CILK1 UNC93B1 AARS1 HNMT AP1S2 SCN3A DEPDC5 PNPO RAI1 CHD2 NHLRC1 ABCA5 SLC39A8 GNAO1 SPTBN4 GJC2 TIMM50 SLC12A2 STXBP1 HSPG2 DLL4 WWOX MAP2K1 FKTN NUP133 PHF6 MECP2 MT-TF PPP3CA MARCHF6 NOTCH1 DRD3 RTN4R CLN8 KCNH1 FGF13 NCDN SCN9A EXOC8 SLC6A19 PLCB1 CRADD PDPN CPA6 NMNAT1 RPL10 TRAPPC11 IREB2 MYD88 HIBCH SLC25A46 AHDC1 PIGL DEAF1 SYNJ1 GABBR2 KCNT1 PHACTR1 PEX26 EIF2S3 GRM7 TBC1D24 PIGQ APC2 STX1B ADGRV1 GLYCTK GNB1 COMT DHDDS GABRD ZC3H14 MGAT2 MED23 PRPS1 MADD CELF2 AARS2 CUL4B CHRNA2 PEX14 CLIP1 HECW2 FOXG1 KCTD7 HCN1 ROGDI METTL23 CUL3 PEX5 PRSS12 ACTL6B GABRB3 MT-CO1 P4HTM PIGS XPA LUZP1 RTTN DPYD ARV1 KCNQ2 GABRA1 UPB1 PIGW XPC LAGE3 SAMD12 TUBB2A KCNA2 SZT2 DDB2 FOXP1 GLUD1 TET3 RSRC1 NPRL2 ATP1A2 MFSD8 ALDH7A1 TGFB1 JRK SLC25A22 MAN1B1 PEX1 MT-TL1 AP3D1 EBP COQ2 RMRP EPM2A OPA1 ABCD1 EDC3 SNAP25 TICAM1 MYH3 PIGT LETM1 RELN ACOX1 NLGN3 NTNG1 PHGDH SYT1 NLRP3 ADGRG1 MT-CO2 PEX2 GABRA5 CREBBP APOL4 PAFAH1B1 SLC35A2 CACNA1B CHMP2B SMC1A AKT3 FRRS1L ANKRD17 POMT2 GRIN2B CNTN2 ERCC6 PIGY WDR73 CLTCL1 MT-CO3 KDM5B PDE2A APOL2 SLC12A6 NALCN ATXN1 PI4KA MAF MBOAT7 ERCC3 SYNGAP1 KIF1A LAMC3 STUB1 CLTRN DOCK6 NUS1 LGI1 AP3B2 STRADA SCN1B CCDC88A NEMF YEATS2 CNTNAP2 ZNHIT3 IARS2 GNB2 ITGB6 KRAS PTPN23 TBC1D2B PDHA1 PTS MAPT PEX10 MMP23B C9orf72 SARS1 EDNRB SPTBN1 NPRL3 MFF CNPY3 UFSP2 NDST1 ASL ARHGEF9 NUP188 PRODH CLTC OTOF TRAPPC9 TRAPPC12 EP300 GABRA2 WDR4 ARG1 CACNA1E CRBN RERE PEX16 SMS CASK COX16 CACNA1H SPATA5 UNC80 AHSG COL13A1 FGFRL1 DPM2 WDR45 CPLX1 PLPBP DPM1 SCARB2 UBTF OSGEP SYT2 TP53RK OCRL HIC1 CLCN6 NOTCH2NLC GABRB1 PURA MTHFR TRIM8 PSAT1 ERCC5 PGAP1 GPAA1 CRH DENND5A ASNS LINS1 KMT2D OCA2 PNKP NUP107 ATAD1 BRAF DPAGT1 UBE4B PARS2 RUSC2 KANSL1 FKRP ARFGEF2 AASS DCX PPT1 MDH1 CLN5 GNB5 SQSTM1 TBCK SLC45A1 PIK3CA GFM2 LSS ERCC1 KDM6A MT-TQ CUX2 ATP10A STARD7 NECTIN1 PSAP CC2D1A SLC5A7 TBK1 CHRNB2 GAD1 CHRNA4 NDUFA9 MT-TS1 RBPJ EOGT MTMR2 C12orf4 FLII FARS2 PIGG NSD2 PIGV ALG14 POMGNT1 MED25 NACC1 ADARB1 LMNB1 TPRKB NECAP1 TECR CPT1C MAPK10 MT-TH ATP6V1B2 PDSS2 NLGN4X IQSEC1 LMAN2L PEX11B GUF1 DAOA MORC2 RNF13 SETD1B PRICKLE1 VAMP2 SOX10 YWHAE HRAS ALDH4A1 DCPS MED13L PLAA LONP1 ERCC2 NDUFAF8 GMPPB NRAS TTC5 FBXO31 FLCN MT-ND4 POGZ PGAP3 EZR PEX13 SLC44A1 LARGE1 SEMA6B CTBP1 HNRNPU NDRG1 MED17 TYROBP HTR2A MCOLN1 HCFC1 SNIP1 TIMM8A DAG1 DHPS FMN2 ALG3 KCNAB2 ADRA2B AGRN ALKBH8 TUBGCP2 MT-ND1 TNIK MT-ND5 KPTN ALG11 ANKRD11 SKI ARHGAP31 FDXR ST3GAL5 PIGC CLCN4 PIGO LRPPRC CASZ1 VAMP1 PRDM16 PTRH2 CLCN2 PAX6 NEU1 MOGS SLC1A4 PCDH19 TRIT1 GRIN1 NSF DALRD3 COX4I1 TUSC3 EMC1 EPG5 HP_ABNORMAL_PERIPHERAL_ACTION_POTENTIAL_AMPLITUDE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PERIPHERAL_ACTION_POTENTIAL_AMPLITUDE ATXN1 HK1 VPS13A MPV17 SORD FXN MORC2 SPTLC1 UQCRC1 HSPB8 DHX16 TRPV4 NDRG1 ATL3 TFG ATL1 SPTLC2 BSCL2 HP_TETRAPLEGIA_TETRAPARESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TETRAPLEGIA_TETRAPARESIS NEK1 SARDH FA2H GAD1 TENT5A HSD17B10 PRDM8 LMNB1 FUS KDELR2 RERE PLP1 L2HGDH PRUNE1 PAFAH1B1 EIF2S3 PSAT1 NADK2 EARS2 PRPS1 ADAR ALDH18A1 EXOSC8 CHCHD10 SELENOI GALC KCNJ18 BSCL2 COA8 DYM SDHAF1 SLC18A2 GSS PRF1 LRP4 RANBP2 TRAPPC4 ALS2 BCAP31 LIPT1 LMX1B TXNRD2 SQSTM1 ATP1A2 MBTPS2 GJA1 VCP KRAS MRM2 NAXE NUP62 PSEN1 TARDBP TNFRSF11A TACO1 POLR3K ARSA NEXMIF ARX GM2A SMC1A CARS2 LYRM7 REEP1 WDR62 ARFGEF2 PLA2G6 NDUFS3 AASS LIPT2 GABRA3 NHLRC2 FAR1 AIFM1 PDHX AUH ATP1A3 UGP2 PHACTR1 SLC35A2 TBCD SLC19A3 MFSD2A KCNT1 PNP STAMBP NDUFA8 C9orf72 STXBP1 MC2R STAR TBK1 SDHB KCNQ2 SOD1 SOX4 COL4A1 KCNJ6 ABCD1 AGTPBP1 SLC1A3 CACNA1S TFG IFIH1 AFF3 CACNA1A MRAP GBE1 SDHA SLC25A10 TRAPPC2L UCHL1 PPOX MOCS1 MT-ATP6 PSAP FBLN1 ERLIN2 HINT1 DPYD LIMS2 ATP6V1A ALG3 TBCE NNT PNKP FGFR1 NMNAT1 APOE SDHD HP_KINETIC_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KINETIC_TREMOR MRE11 CCDC88C SEMA6B CWF19L1 ARSA FMR1 POLR3A KNSTRN SPTBN2 POU4F1 MAOA MPLKIP FBXO7 TMEM240 GJC2 RARS1 GSS NOP56 TENM4 PPP2R2B ERCC8 SPTBN1 SACS ITPR1 ATXN10 ATP2B3 TMEM106B PSAP CACNA1A ABCB7 VLDLR SCARB2 LMNB1 TARS1 POLR3B RNF113A KIF1C SCP2 PIK3CD ANO10 GJB1 NKX2-1 TMEM70 SLC25A46 ABHD12 TBP VWA3B PPP1R15B TMEM63A ERCC6 TGM6 PTEN SNCA PLA2G6 SCYL1 GTF2E2 PRICKLE1 CAMTA1 XPNPEP3 ERCC3 PIK3CA RFC1 RNU12 AKT1 FARS2 ERCC2 UFC1 QRICH1 NONO ATCAY FXN ATXN2 ELOVL4 EPRS1 NFASC PNPLA6 UCHL1 SLC6A17 CTDP1 PEX10 KCNJ10 GTF2H5 ITM2B AFG3L2 FAM126A OPHN1 CSTB NOTCH2NLC LEMD2 HP_TITUBATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TITUBATION BRAT1 NKX6-2 PLP1 THG1L ACBD5 HIBCH TMEM63A IFRD1 FLVCR1 PITRM1 UCHL1 SLC19A3 LMNB1 VPS13A GJC2 SIGMAR1 MAG LAMA1 EIF2AK2 ALS2 KIF1C KCNC3 SPG11 FUS FAM126A SPTBN1 HP_TREMOR_BY_ANATOMICAL_SITE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TREMOR_BY_ANATOMICAL_SITE SNRPN SLC12A6 C19orf12 ERLIN2 YEATS2 PLP1 CACNA1G HIBCH MORC2 TSHR CIZ1 PDK3 TMEM63A PPP2R2B SMN1 GJB1 GBA2 RAB3GAP2 DRD3 ITPA COL6A3 UBE3A ITPR1 MARS1 MYBPC1 MFN2 PGAP1 SLC6A17 PEX6 GJC2 SIGMAR1 ALS2 ZFYVE26 NOP56 TENM4 ABCB6 STUB1 KIF1C MTM1 SETX ZFR MPZ DNMT1 GCK SPTBN1 PIK3R5 FGF14 MARCHF6 TFG NEFL NKX6-2 ADRA2B IFRD1 TOR1A SAMD12 UCHL1 ANO3 SMN2 LMNB1 VPS13A CTNND2 LAMA1 CARS2 TAF1 EIF2AK2 SPG11 SCP2 CNTN2 DDC PMP22 FUS TUBB4A AFG3L2 NOTCH2NLC SH3TC2 HP_FATIGABLE_WEAKNESS_OF_BULBAR_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FATIGABLE_WEAKNESS_OF_BULBAR_MUSCLES TPM2 DCTN1 NGLY1 HACD1 PON2 NEB ANG PPARGC1A ACTA1 PON1 TAF15 TPM3 SQSTM1 MYPN DKK1 SOD1 COA8 KBTBD13 DMPK CHMP2B CFAP410 GLE1 ATXN2 PON3 C9orf72 SELENON GLT8D1 OPTN ERBB4 EPHA4 CHCHD10 MYL2 TREM2 UBQLN2 UNC13A DAO TARDBP FIG4 VAPB NEFH FUS PRPH HNRNPA1 DES MATR3 TBK1 VCP MAP3K20 GMPPB GIPC1 NEK1 ANXA11 KLHL41 CCNF ITGA7 PFN1 HP_FATIGABLE_WEAKNESS_OF_SWALLOWING_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FATIGABLE_WEAKNESS_OF_SWALLOWING_MUSCLES DCTN1 UNC13A DAO TARDBP PON2 FIG4 VAPB ANG PPARGC1A NEFH FUS PON1 TAF15 PRPH HNRNPA1 SQSTM1 MATR3 DKK1 TBK1 SOD1 VCP COA8 CHMP2B CFAP410 GLE1 NEK1 ATXN2 PON3 C9orf72 ANXA11 GLT8D1 OPTN ERBB4 CCNF EPHA4 CHCHD10 TREM2 UBQLN2 PFN1 HP_FATIGABLE_WEAKNESS_OF_RESPIRATORY_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FATIGABLE_WEAKNESS_OF_RESPIRATORY_MUSCLES DCTN1 PON2 AK9 ANG CFL2 PPARGC1A PON1 CHRNE TAF15 SQSTM1 SOD1 NEB SCN4A CHMP2B CFAP410 GLE1 CHRND ATXN2 PON3 C9orf72 ACTA1 GLT8D1 OPTN ERBB4 COL13A1 RNASEH1 KLHL41 EPHA4 CHCHD10 MUSK TREM2 UBQLN2 UNC13A DAO TARDBP RRM2B CHRNB1 FIG4 LRP4 VAPB NEFH FUS KCNE3 PRPH HNRNPA1 DES MATR3 CHRNA1 TBK1 TPM2 VCP RAPSN NEK1 AGRN ANXA11 CCNF CACNA1S DOK7 LMOD3 PFN1 HP_FATIGABLE_WEAKNESS_OF_SKELETAL_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FATIGABLE_WEAKNESS_OF_SKELETAL_MUSCLES FLNC POMT1 TPM2 FKRP POMT2 CHRNB1 AK9 LRP4 ACADM MINPP1 CFL2 ORAI1 KCNK9 CHRNE SCN4A TFG MYPN LARGE1 CHRNA1 GMPPB NEB HINT1 RAPSN LDB3 TOE1 TPM3 CHRND STIM1 CASQ1 AGRN ACTA1 COL13A1 DOK7 KLHL41 LMOD3 MUSK HP_FATIGABLE_WEAKNESS_OF_DISTAL_LIMB_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FATIGABLE_WEAKNESS_OF_DISTAL_LIMB_MUSCLES NEB HINT1 ACTA1 LDB3 KLHL41 LMOD3 CFL2 TPM2 HP_FATIGUABLE_WEAKNESS_OF_PROXIMAL_LIMB_MUSCLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FATIGUABLE_WEAKNESS_OF_PROXIMAL_LIMB_MUSCLES FLNC NEB TPM2 CFL2 TPM3 ORAI1 STIM1 KCNK9 CASQ1 ACTA1 TFG MYPN KLHL41 LMOD3 HP_RESPONSE_TO_DRUGS_ACTING_ON_NEUROMUSCULAR_TRANSMISSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPONSE_TO_DRUGS_ACTING_ON_NEUROMUSCULAR_TRANSMISSION DPAGT1 GFPT1 LAMB2 COLQ ALG2 ALG14 GMPPB HP_SLOW_PUPILLARY_LIGHT_RESPONSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLOW_PUPILLARY_LIGHT_RESPONSE PSAP CHRNA3 GALC LAMB2 COLQ PMP22 MPZ PRPS1 TULP1 HP_COLLECTIONISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLLECTIONISM HTR2A TMEM106B PSEN1 CHMP2B MAPT SLC6A4 C9orf72 TREM2 VCP GRN SQSTM1 HP_INAPPROPRIATE_CRYING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INAPPROPRIATE_CRYING GABBR2 PHGDH SLC18A2 STXBP1 FOXG1 PIGS IQSEC2 KIF15 TBC1D2B PSAP NTNG1 CDKL5 GALC PSAT1 SLC19A3 MECP2 ALG9 SMC1A HP_VISUAL_AGNOSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VISUAL_AGNOSIA ABCD1 TREM2 MAPT GRN CHMP2B C9orf72 CEP85L PSEN1 TMEM106B HP_PERSEVERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERSEVERATION SQSTM1 TMEM106B PSEN1 FUS VCP USP7 TREM2 NONO TARDBP NPC2 GRN CHCHD10 TACO1 MAPT CHMP2B C9orf72 TBK1 PRNP HP_HIGHLY_ELEVATED_CREATINE_KINASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIGHLY_ELEVATED_CREATINE_KINASE LAMA2 PYGM DPM3 CRPPA ANO5 POPDC3 HP_ABNORMALITY_OF_MUSCLE_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_MUSCLE_SIZE MME PPARG FOXE1 LEMD3 CCDC47 PPARGC1A CIZ1 DCTN1 SELENON TAF15 GNE SLC18A3 TPM3 GAA SFXN4 BBS1 NDE1 TGFB1 EGR2 ATXN3 NEFL PNPLA6 LDB3 FOS CCT5 HARS1 LMNA TK2 SMAD4 SH3TC2 TTN LIPE MPZ PAX7 ERCC8 AMPD2 SLC25A19 FARS2 TNXB SPG11 PRPS1 DAG1 AGPAT2 HINT1 VCP CHCHD10 AGA IFRD1 NEXMIF YARS1 CHRNE CEP126 MATR3 SPTLC2 TBK1 TSHB TRPV4 MYO9A MDH2 VLDLR LMOD3 CAV3 POU1F1 RBM28 PLXND1 ANXA11 ATP6V1B2 DOK7 ATL1 TDP1 HNRNPA2B1 SNRPN SLC25A46 SDHC HACD1 PHKG2 BBS9 KIF1B DYSF MAP3K20 DMD KCNMA1 SGCB SUCLG1 PFKM KBTBD13 POLG FUS SCAPER NDUFA8 PLP1 NAGA CEP290 MSTN MEG3 GPC3 SLC5A7 MTAP ARSB NDUFA12 MYOT AFG3L2 YARS2 GNAS ANO5 CA8 UBQLN2 SLC7A7 AP1S2 TFG NCF1 POP1 HSPB1 HYMAI INSR ATRX MT-TL1 WASHC5 KIF1A MYOD1 HNRNPK PMP22 PIK3C2A SETBP1 BVES TPI1 FKBP14 SLC25A1 FHL1 COL6A3 BCL7B GDAP1 ZFP57 GJB1 B4GAT1 ARID1A CHN1 KLHL41 AIFM1 SPEG NEFH NEB IYD NEU1 SLC9A6 PGAP1 FBXL4 DMPK DNM2 FUCA1 SIL1 NPPA FKRP CAPN1 AARS1 CHAT CHRND ELN SACS CHP1 KIF1C EIF4H COL4A1 SETX TREM2 UNC13A HRAS RRM2B PFN1 CRPPA CLCN1 SLC5A5 AFF4 HNRNPA1 CNTNAP1 CHRNA1 DNM1L GMPPB CCDC115 IDUA BUD23 PDE8B TSHR DES KAT6A SDHD OPA1 DHX16 VRK1 DLK1 SLC39A13 CPLANE1 PSMB8 B4GALNT1 CLDN3 SMN1 TCAP COL6A1 SPTBN4 SLC12A6 SYNE2 DNAJB2 PON2 MYH7 PHGDH TIMMDC1 TBCD EXOSC3 PLEKHG5 PHKA1 LARGE1 MYPN EHMT1 SDCCAG8 ERLIN2 LAMA2 C9orf72 SLC25A4 SDHB ERBB4 GFPT1 NKX2-1 CTLA4 KCNN3 POMGNT1 FLNC CFAP418 ATP8A2 HK1 SOD1 RAPSN GLE1 ANG KY BSCL2 PRKAR1A SDHA TRMU AR FAM111B KLHL40 TPO POMT2 DALRD3 LIMS2 LAMB2 TMEM270 RXYLT1 TRIM32 STIM1 CEP19 SMARCB1 OGDH NDUFS4 TRAPPC11 GPC4 RNASEH1 PNKP POLR3A PTEN PEX1 DNMT3B RTN2 ABCC9 MT-TE HELLS ERGIC1 BBS12 SIGMAR1 CHRNG KCNQ1OT1 HEXB IDS NPHP1 ADSL MYL2 FBXO38 TARDBP VAMP1 FITM2 VAPB LHX4 SLC46A1 TBCK ACTA1 FLVCR1 HNRNPDL SCN4A MECP2 BBS5 ABCC8 B4GALT7 BBS7 MAG FTO METTL27 MYF6 NDRG1 ALS2 NALCN ERLIN1 PRX REEP1 TTC19 MUSK STING1 INPP5E CDCA7 TIA1 ZC4H2 MAP3K7 SPRTN NIPA1 ZBTB20 C19orf12 DCAF8 SCYL1 IGHMBP2 DPM3 DUOX2 TPM2 PIGS HESX1 HSPB8 PLEC HSPB3 AGTPBP1 MTMR14 SQSTM1 LRP4 CHRNB1 RFC2 WNT5A TNNT1 ATXN2 IGF2 MTRFR IFT172 GBE1 PEX10 LAMP2 ALG3 USF3 NEK1 RBM8A ITGA7 ZEB2 NEMF FAM126A FRG1 COG7 PLIN1 VPS13D NGLY1 PRUNE1 GARS1 CLIP2 SPAST GBA2 DGUOK COG8 ALDH18A1 ABHD11 SCN5A ALG8 SNAP25 ZBTB24 DARS2 SLC26A4 NDUFAF6 PAX8 FDX2 FKTN NUP88 PHYH STX1A WDPCP COL12A1 DHTKD1 LTBP4 COQ2 NOTCH2NLC MT-ATP8 SUCLA2 ACADSB WARS2 IL6ST SALL4 PYCR2 ALG6 MGME1 TMEM43 JPH1 SURF1 TRAF3IP2 COA7 ATAD3A GNPTAB PEX7 KLC2 PLAGL1 TBC1D23 VPS33A ALG9 ATXN1 POMK FBN2 UNC45B BIN1 VWA1 GLT8D1 GTF2IRD2 STUB1 HSPG2 STAC3 DYNC1H1 POMT1 TTC8 DUX4 RNF125 PIEZO2 PRPH COL7A1 VPS37D ACTN2 SGCA PRKACA PLOD3 HBB AKT1 FOXG1 TRIP4 SNX14 TBCE CUL4B SHOX MPV17 HMGA2 RTL1 GTF2I SGCD MED25 LITAF KIF5A PDK3 ARL6 CHMP2B GPR101 LMNB2 CAPN3 NOP56 COL13A1 CAVIN1 WDR81 CTNS MAN2B1 RYR1 GYG1 SGCG ZFYVE26 AGL AIP ADK SLC16A2 GIPC1 TBL2 CPT1A PRKAG2 PQBP1 KLLN ABCA1 GAN ERBB3 CARS1 PYROXD1 CYP7B1 DVL1 LHX3 POMGNT2 PIP5K1C HUWE1 ACADM PHF6 SYNE1 DNAJC30 PUS1 SYT2 VPS13A NARS2 ENTPD1 FBLN5 PNPT1 BBIP1 SEPTIN9 LRSAM1 LMX1B LZTFL1 COLQ PNPLA2 PHKA2 FGD4 SDHAF1 MYBPC1 FIG4 TTPA KDM5C ASCC1 MTM1 RAB7A SMPD1 CDKN1C COL6A2 MYH3 ADSS1 PYGM UBA1 MFN2 KANSL1 B3GALNT2 KRT14 MYMK SCO2 C2orf69 KCNQ1 TBX3 UBE3A PEX6 SMARCA4 PON3 OPTN MED13L SLC52A2 PEX5 BAG3 KCNK9 KCNH1 SPTLC1 SRY SMN2 INPP5K REV3L RPS6KA3 BBS4 BBS2 AGRN KCNA1 SMCHD1 HS2ST1 FIBP NDUFA9 MAFB GTF2IRD1 MTMR2 ASAH1 DHH NKX2-5 ROR2 CFAP410 ACTB IFT27 GLB1 POLR2A MKS1 POPDC3 BICD2 SCN9A GPR35 UBAP1 DNAJC19 ADARB1 PSAT1 MRE11 SPART INF2 RASA1 CPT1C IFT74 PIK3CA USP8 PROP1 MORC2 SLC25A21 TCF4 ATM GRIA3 PON1 KLHL9 TOE1 SOX10 SBF2 ATL3 TYMP YY1 CD28 FXN APTX TNFRSF1B SEMA4D SVBP VMA21 MKKS CYP27A1 COMP RAI1 AK9 TBX5 COLEC11 WRN ATP6V0A2 ARSI SNIP1 FUZ FLNA EXOSC8 MCCC2 BMP1 KRT5 CD59 THRA LAT2 NBN IBA57 PIGW MINPP1 TG FLRT1 MSTO1 COL2A1 IFT140 RETREG1 CCNF TUBB2B LIMK1 BAZ1B ABHD12 PDE11A AMPD1 ERCC6 SLC52A3 GATA1 COASY SEC23B DUOXA2 MST1 PTRH2 MYH14 DNA2 SLC33A1 CAV1 KCNJ11 EPHA4 DAO ANTXR2 ATP7A FKBP6 CLDN4 MLXIPL PSMG2 CIDEC PIK3R2 EMD BBS10 WNK1 LRP12 HP_HAND_MUSCLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAND_MUSCLE_WEAKNESS FLNC BSCL2 COLQ AK9 MORC2 PDK3 TK2 GARS1 CHRNE PNPLA2 GJB1 GNE MFN2 POLG LDB3 HARS1 CHRND TIA1 COL13A1 MYH7 MUSK DYSF NEFL CHRNB1 LRP4 NEB REEP1 SCN4A CHRNA1 DCTN1 BICD2 HINT1 RAPSN LAMB2 PMP22 AGRN DOK7 SQSTM1 HP_PORTAL_VEIN_THROMBOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PORTAL_VEIN_THROMBOSIS MPL SLC4A1 KCNN4 NOTCH1 PIEZO1 MET CTNNB1 SERPINC1 JAK2 TET2 PIGM HP_SPLANCHNIC_VEIN_THROMBOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPLANCHNIC_VEIN_THROMBOSIS EPAS1 SLC4A1 PRSS2 PRSS1 JAK2 SPINK1 CD55 PIGM MPL CFTR KCNN4 NOTCH1 PIEZO1 MET CTNNB1 SERPINC1 PIGA CTRC CASR CPA1 TET2 HP_DEFECTIVE_T_CELL_PROLIFERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEFECTIVE_T_CELL_PROLIFERATION MRTFA CTPS1 TGFB1 WIPF1 CD3E RASGRP1 HP_LARGE_INTESTINAL_POLYPOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_INTESTINAL_POLYPOSIS PIK3CA APC GREM1 SDHC RNF43 KEAP1 SDHB MUTYH NTHL1 TP53 PTEN BMPR1A POLD1 CHEK2 ENG AXIN2 SEC23B SMAD4 FLCN CDKN2A MSH3 DICER1 MDM2 USF3 SDHD AKT1 PMS2 POLE KLLN MLH1 HP_MICROPHALLUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROPHALLUS FANCF TOE1 HMGA2 TACR3 MINPP1 OPHN1 CDKN1C PLAG1 SAMD9 GATA4 SIN3A IGF2 RTTN THOC2 CILK1 TRRAP HP_HYPERPLASTIC_CALLUS_FORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPLASTIC_CALLUS_FORMATION TENT5A KRT17 KRT6B KDELR2 MBTPS2 IFITM5 KRT16 KRT6A HP_ABNORMAL_ERYTHROCYTE_ENZYME_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ERYTHROCYTE_ENZYME_LEVEL RPS29 RPS28 RPL11 KHK RPS10 RPS19 GATA1 RPS26 PHKG2 RPS15A RPL27 RPL15 ADA2 RPL26 RPL18 TSR2 RPS20 GALT RPL5 VPS13A RPS7 PHKA2 RPL31 RPL35 PRPS1 RPS17 ADA ALAD RPS27 PKLR RPL35A RPS24 PIGA HP_FLATTENED_FEMORAL_EPIPHYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLATTENED_FEMORAL_EPIPHYSIS COL2A1 TBX4 SLC39A13 TRPS1 COL9A1 TRPV4 UFSP2 KIF22 GNPTG SLC26A2 CCN6 TONSL ACAN HP_LOWER_LIMB_METAPHYSEAL_IRREGULARITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_METAPHYSEAL_IRREGULARITY TRPV4 CSPP1 RSPRY1 COL10A1 SRP54 RPL13 CFAP410 KIAA0586 DNAJC21 SBDS HP_UPPER_EXTREMITY_JOINT_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_EXTREMITY_JOINT_DISLOCATION SHOX ATR TENT5A KDELR2 COL1A1 NOG HDAC8 B3GAT3 SMAD6 FBN1 SMOC1 FLNB DVL1 B3GALT6 ORC1 FZD2 GPC6 ORC4 GSC EXOC6B AEBP1 IFITM5 BMP1 NIPBL GDF5 LMX1B FLNA MBTPS2 ARF1 EXTL3 CHST3 PRKAR1A WNT5A COL5A1 BRD4 ARFGEF2 ASXL1 NXN CDC6 ARID1B SLC39A13 SCARF2 CDC45 XYLT1 NGLY1 RNU4ATAC TBX15 MAP3K7 TMTC3 DVL3 CREBBP HSPG2 COL1A2 SMC3 B4GALT7 ROR2 CDT1 SMC1A COL27A1 DONSON MACROH2A1 SKI ERCC1 CANT1 PITX1 AFF3 CD96 CHRNG APC GMNN SLC26A2 NEDD4L SRCAP ERMARD COL5A2 EP300 NOTCH2 ORC6 KIF22 LRP4 MAP1B RAD21 HP_LOWER_EXTREMITY_JOINT_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_EXTREMITY_JOINT_DISLOCATION ATR ATP7A COL1A1 MKKS GTF2I HDAC8 IARS2 CFL2 CCDC47 COL12A1 SLC18A3 TPM3 KMT2D PTCH1 B3GALT6 KANSL1 GORAB DNAJC21 MCTP2 DLL1 TDGF1 OBSL1 FGF8 GEMIN4 ZNF469 PPP2R5D GLRA1 SOX9 SMOC1 TBX4 ARF1 RYR1 FZD2 SIX3 PYCR1 RBM8A FLNB OCRL GPHN MYO9A EYA1 FOXH1 TBL2 RFWD3 ALDH18A1 EP300 ERCC4 SLC6A5 NGLY1 AKT1 HACD1 RNU4ATAC FIG4 GLI2 ZIC2 GLI3 TMTC3 ERGIC1 COLEC10 STXBP1 VAC14 COL13A1 FGFRL1 LMNA CPLX1 TPM2 OSGEP COL1A2 ATP6V0A2 NCF1 FLNA TGIF1 PUF60 COL3A1 DNAJC30 SYT2 NEDD4L AEBP1 YWHAE ATP6V1A COL5A2 SLC25A1 UBE2A COL6A3 BCL7B SLC35A3 ARNT2 DISP1 SELENON SHROOM4 RAD21 ITGA7 SEC24C LMX1B B3GAT3 SIL1 SHH SMAD6 COMT DVL1 SLC26A2 JMJD1C BRCA2 RECQL4 POMT2 GSC CHAT ELN KIF22 ADAMTS2 EIF2AK3 NODAL NOTCH2 KLHL41 CUL7 NSDHL EIF4H GDF5 GJA1 CDON SEC31A FANCA TOR1A FHL1 DHCR7 FBLN5 ACTA1 GMPPB FGFR1 PORCN ECEL1 BRD4 BUD23 HOXA11 ARFGEF2 COX8A PLOD1 HIRA CLDN3 CREBBP COL6A1 TBX1 SIX1 FANCB TBCD EXOSC3 LARGE1 MYH7 TBX15 KAT6B NEB DPYSL5 USP9X ZC4H2 TONSL ATP6V1E1 FANCF ERCC1 CANT1 KDM6A CHRNG ARVCF COL2A1 ERMARD RREB1 INPP5K BRCA1 TMEM270 SLC5A7 MYH8 CHRM3 RAD51C GPC4 LONP1 GTF2IRD1 SLC2A10 ATAD1 NSD2 NFIX EXOC6B COL6A2 MYL2 DHODH SLC12A2 TNNT3 TELO2 SLX4 CHST3 WNT5A ADAMTSL2 GAS1 SMO EFEMP2 METTL27 NIPBL MBTPS2 PIGL XYLT1 LMOD3 SLC6A9 AARS1 XRCC2 STAG2 UBE3B COLEC11 PTEN SLC10A7 PKDCC ZMPSTE24 GPC3 HK1 FKRP AFF3 FANCC RFC2 APC GLRB UBE2T EBP ALG9 RAD51 LRP4 MAP1B MAD2L2 C12orf57 TMEM251 CTBP1 GNPTAB PRKACB SMC1A CLIP2 FANCE ABHD11 DSTYK SNAP25 MYH3 LETM1 IFIH1 WNT7A FUT8 THRA FANCI LAT2 STX1A AGRN CCDC8 SNRPB MASP1 COL5A1 FANCL EIF4A3 BPNT2 IL6ST LIMK1 PYCR2 SF3B4 BAZ1B CLTCL1 PIEZO2 HACE1 DVL3 UFD1 FBN2 VAMP1 SMC3 PTRH2 FLI1 GTF2IRD2 GP1BB PAFAH1B1 OFD1 HSPG2 BICD2 POMT1 CD96 FKBP6 CLDN4 VPS37D FANCG MLXIPL FBLN1 MAP3K20 CHST11 BRIP1 FANCD2 MAP3K7 FANCM PALB2 HP_ABNORMAL_PERIOSTEUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PERIOSTEUM_MORPHOLOGY SLCO2A1 GALNT3 IL1RN COL1A1 KL HP_ANGULAR_CHEILITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANGULAR_CHEILITIS DSC3 SREBF1 KRT17 CUBN KRT6B KRT16 CAST AMN KRT6A HP_WEAKNESS_OF_FACIAL_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WEAKNESS_OF_FACIAL_MUSCULATURE POLG2 MYL1 SGCD CFL2 SELENON COL12A1 SLC18A3 TPM3 CHCHD10 LMOD3 GJA1 MTMR2 DOK7 ASAH1 MT-TE MUSK GIPC1 LRP4 DNAJB6 ZNF41 TK2 SH3TC2 NUTM2B-AS1 COL13A1 POMT1 SLC9A7 MYH7 SLC25A4 GAN MYL2 AKT1 ANKH ZNF81 HOXB1 PEX26 CHRNB1 BAP1 MSTO1 RYR1 FRMPD4 ITGB4 SCN4A ACTA1 CHRND CHRNE AGTR2 PTCHD1 DES CAPN3 SLC39A14 PIK3CA ARX MYO9A FTSJ1 PAK3 SOST EYA1 PLXND1 SHMT2 CHRNA1 CRPPA FKRP SEMA3E MEGF10 MGME1 CLCN7 VCP CHD7 CACNA1A LRP5 PEX10 PDGFB SCN1A CLCF1 HACD1 CHKB ABCA1 SLC25A21 FRG1 ZC4H2 MYPN MYMK SYP GMPPB AMER1 KBTBD13 DLG3 ADA2 POLG ANO5 NEFL BMS1 TPM2 SYNE1 PEX3 DMPK COL4A1 BIN1 PLEC HK1 TFAP2A COL6A3 HLA-DRB1 TRAF7 NEB PABPN1 MTMR14 SQSTM1 PEX14 TTN PUF60 GSN SLC19A3 MTRFR SYT2 SUFU RRM2B PEX2 TREX1 SALL4 NARS2 PEX6 SLC25A1 MTM1 ATP1A2 PEX13 DMD KLHL41 ALG2 ACSL4 ZNF711 PEX5 CNKSR2 ITGA7 SPEG MID2 BICRA SIX1 COLQ PEX19 AK9 POMT2 ALG14 SLC25A42 ARHGEF6 GNE CNTNAP1 COX6A2 RAB39B DNM2 NF2 MPZ GJC2 SMARCB1 SNAP25 GDI1 TNFSF11 CHAT AGRN RPS6KA3 PEX1 ALG13 ACTN2 ADGRG1 FKTN MT-TN SLC5A7 MECP2 COL6A2 SRPX2 USP27X KY BTNL2 DLL4 TRIM32 NOD2 DNM1L NOTCH2NLC SMARCE1 ADSS1 RAPSN UBA1 TSPAN7 TUBB6 SMCHD1 OPA1 TGFB1 KLHL40 MED12 SMO COL6A1 PEX11B FLNC PTDSS1 DPAGT1 SPTBN4 SLC12A6 IQSEC2 TCIRG1 STEEP1 TERT SCO2 ACADS SLC52A3 LARGE1 CRYAB EBF3 IL1RAPL1 PI4KA LAMA2 YME1L1 VAMP1 SNX10 GFPT1 PTRH2 UPF3B DNA2 YARS1 PEX12 USP9X RNASEH1 SURF1 IRF2BPL CLCN4 GLE1 SLC52A2 PEX16 SIX5 MT-TS1 TWNK BAG3 CRLF1 TUBB3 DCTN1 HCFC1 MAP3K20 LAMB2 REV3L PRRT2 TRPV4 SUCLA2 ADCY6 LRP12 HP_INCREASED_INTERVERTEBRAL_SPACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_INTERVERTEBRAL_SPACE PLCB3 TRPV4 EXTL3 ACP5 SLC26A2 HP_RETINAL_THINNING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_THINNING GPR179 RHO TRPM1 GNB3 GNAT1 ABCA4 ELOVL4 RIMS2 COL2A1 GRK1 ALDH3A2 CYP4V2 KIF3B POMGNT1 SAG CABP4 LRIT3 CNGB3 GRM6 NYX SLC6A6 LAMA1 PDE6B PROM1 HLA-A CFAP418 PRPH2 CACNA1F CACNA2D4 PCYT1A SLC24A1 HP_ABNORMAL_CIRCULATING_GONADOTROPIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_GONADOTROPIN_CONCENTRATION GATA4 DMXL2 NR5A1 FSHR FOXL2 CYP11A1 FMR1 CNBP DHH CFTR KISS1R MCM8 HSD17B4 NUP107 SMARCB1 POLR3H C14orf39 MAGEL2 ZFPM2 AKT1 TEX14 BAP1 FGD1 LHX4 SNRPN BNC1 POLA1 PIK3CA FAM111A NF2 SMARCE1 ESR1 POU1F1 TDRD9 WT1 SRY SOHLH1 VAMP7 DMRT3 CYP17A1 CPE SMO GDF9 FIGLA PDGFB NSMCE2 LARS2 FANCM PROP1 TERT LHB NANOS1 XRCC2 CBX2 AR MEIOB TEX15 GNRH1 ZMYND15 TAF4B ERCC6 CDH23 LHX3 CYB5A SOX9 NDN HESX1 HFM1 SPIDR ESR2 WWOX BMP15 TRAF7 SYCE1 OCA2 MRPS22 DHX37 POR MAP3K1 NR0B1 PNPLA6 SUFU CFAP47 TEX11 KLHL10 PPP2R3C SYCP3 ANOS1 LHCGR STAG3 PSMC3IP HP_DECREASED_CIRCULATING_GONADOTROPIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_GONADOTROPIN_CONCENTRATION TRAF7 DMXL2 PDGFB MAGEL2 OCA2 BAP1 PROP1 TERT LHB LHX4 SNRPN PNPLA6 GNRH1 PIK3CA NF2 SMARCE1 SUFU NDN POU1F1 LHX3 SMARCB1 HESX1 ANOS1 CPE SMO AKT1 HP_DECREASED_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_CONCENTRATION TRAF7 DMXL2 POU1F1 PDGFB LHX3 SMARCB1 BAP1 PROP1 TERT HESX1 LHX4 ANOS1 CPE PIK3CA NF2 SMO SMARCE1 SUFU AKT1 HP_ABNORMAL_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_CONCENTRATION GDF9 FIGLA GATA4 DMXL2 PDGFB NR5A1 NSMCE2 CYP11A1 PROP1 TERT XRCC2 SRY CBX2 BNC1 BAP1 FANCM CNBP ERCC6 KISS1R MCM8 LHX3 CYB5A SOX9 SMARCB1 HESX1 ESR2 ZFPM2 WWOX AKT1 TRAF7 CYP17A1 FGD1 FOXL2 DHX37 LHX4 POR MAP3K1 NR0B1 PIK3CA FAM111A NF2 SMARCE1 C14orf39 SUFU POU1F1 WT1 PPP2R3C ANOS1 VAMP7 DMRT3 CPE AR SMO HP_ABNORMAL_CIRCULATING_ANDROGEN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_ANDROGEN_LEVEL SLC39A4 GNRH1 GATA4 DMXL2 PDGFB CHD7 CYP11A1 TERT LHB B4GALNT1 AR POLR3A TACR3 BAP1 HS6ST1 NFKB2 DHH DMPK WNT4 KISS1 CYB5A SOX9 TP53 SMARCB1 MC2R NR3C1 ALMS1 STAR GNRHR GNAS NR5A1 LEP CYP11B1 ZFPM2 WWOX DUSP6 LEPR DCAF17 PROKR2 TXNRD2 PROK2 SPRY4 AKT1 TRAF7 CYP17A1 HFE FGF17 FGD1 MRAP DHX37 INSR POR MAP3K1 FSHB NR0B1 POLA1 SRY PIK3CA FGF8 NF2 SMARCE1 KISS1R WDR11 SUFU HSD3B2 FGFR1 RBM28 WT1 FSHR VAMP7 TAC3 DMRT3 CPE NNT NDNF NSMF NR2F2 ALG6 SMO HP_INCREASED_CIRCULATING_ANDROGEN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_ANDROGEN_CONCENTRATION HSD3B2 WNT4 TP53 ALMS1 INSR AR POLR3A GNAS FSHR CYP11B1 NR2F2 ALG6 HP_DECREASED_CIRCULATING_ANDROGEN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_ANDROGEN_CONCENTRATION SLC39A4 GNRH1 GATA4 DMXL2 PDGFB CHD7 CYP11A1 TERT LHB B4GALNT1 TACR3 BAP1 HS6ST1 NFKB2 DHH DMPK KISS1 CYB5A SOX9 SMARCB1 GNRHR NR5A1 LEP ZFPM2 WWOX DUSP6 LEPR DCAF17 PROKR2 PROK2 SPRY4 AKT1 TRAF7 CYP17A1 HFE FGF17 FGD1 DHX37 POR MAP3K1 FSHB NR0B1 POLA1 SRY PIK3CA FGF8 NF2 SMARCE1 KISS1R WDR11 SUFU HSD3B2 FGFR1 RBM28 WT1 VAMP7 TAC3 DMRT3 CPE NDNF NSMF SMO HP_ERYTHEMATOUS_PAPULE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERYTHEMATOUS_PAPULE MEFV KRT14 POFUT1 POGLUT1 KRT5 COL7A1 PSENEN HAVCR2 HP_ABNORMAL_SERUM_INSULIN_LIKE_GROWTH_FACTOR_1_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SERUM_INSULIN_LIKE_GROWTH_FACTOR_1_LEVEL ADAT3 RBM28 SMPD1 GHRHR IGF1R GHSR MEN1 IGFALS GPR101 MCTP2 STAT5B GHR AIP ALG12 NFKB2 SOX3 DCAF17 GALT HP_DECREASED_SERUM_INSULIN_LIKE_GROWTH_FACTOR_1 http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SERUM_INSULIN_LIKE_GROWTH_FACTOR_1 ADAT3 RBM28 SMPD1 GHRHR GHSR IGFALS MCTP2 STAT5B GHR ALG12 NFKB2 SOX3 DCAF17 GALT HP_ABNORMAL_SERUM_INTERFERON_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SERUM_INTERFERON_LEVEL PTPN22 ANKRD55 PRF1 UNC13D PTPN2 IL2RB CD247 RNASEH2C RNASEH2B STXBP2 RNASEH2A ADAR STX11 POLA1 TREX1 STAT1 IL2RA PSMB8 SP110 IFIH1 STAT4 SAMHD1 HP_ABNORMAL_PROPORTION_OF_CLASS_SWITCHED_MEMORY_B_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PROPORTION_OF_CLASS_SWITCHED_MEMORY_B_CELLS SOCS1 PRKCD IRF2BP2 ICOS LRBA CD19 IL21 LCP2 TET2 PIK3CD IL6R HP_SPOKEN_WORD_RECOGNITION_DEFICIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPOKEN_WORD_RECOGNITION_DEFICIT MAPT HSD17B10 GRN GRIN2A PSEN1 TMEM106B C9orf72 CHMP2B TREM2 VCP HP_CHOROID_PLEXUS_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOROID_PLEXUS_CARCINOMA CDKN2A CHEK2 MDM2 SMARCB1 TP53 HP_ABNORMAL_PLATELET_AGGREGATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLATELET_AGGREGATION RUNX1 VWF IKZF5 ITGA2B ITGB3 LCP2 GP1BB AP3B1 KCNJ1 GP1BA FLI1 RASGRP2 P2RY12 DTNBP1 BLOC1S3 TBXA2R ABCG8 NBEAL2 GUCY1A1 MGAT2 PLAU GATA1 CALR EPHB2 BLOC1S5 THPO SH2B3 HPS6 GP9 PLA2G4A CISD2 HP_GLUCAGONOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLUCAGONOMA GCGR MEN1 CDKN1A CDKN1B CDKN2C CDKN2B HP_PANCREATIC_ENDOCRINE_TUMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_ENDOCRINE_TUMOR CDKN1B TSC2 CDKN2C MAFA GCGR MEN1 CDKN1A VHL TSC1 CDKN2B HP_PRIMARY_PERITONEAL_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRIMARY_PERITONEAL_CARCINOMA NBN RAD51 RAD51D BARD1 PALB2 RAD51C BRCA1 PTEN TP53 BRCA2 MRE11 BRIP1 CHEK2 RAD50 HP_NEUROMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUROMA PDCD10 NF1 NF2 KRIT1 CCM2 HP_OSTEOCHONDROMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOCHONDROMA EXT1 GLI3 FGFR3 PRKAR1A EXT2 SOX6 HP_PILOMATRIXOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PILOMATRIXOMA APC KEAP1 CTNNB1 EP300 DICER1 CREBBP HP_PULMONARY_CARCINOID_TUMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_CARCINOID_TUMOR MEN1 CDKN1A CDKN1B CDKN2C ATRX DAXX SDHD LMNA CDKN2B HP_SOFT_TISSUE_SARCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOFT_TISSUE_SARCOMA MLH1 SRC APC AURKA PAX3 DICER1 NF1 KEAP1 NRAS BUB3 BUB1B BUB1 PRLR SUFU PTEN SDHC RASGRP1 KRAS TP53 PTCH1 CDKN2B CDKN1B SMARCB1 ELMO2 FH CASP10 KCNH1 AKT1 KRT17 FGFR3 FAS DHCR24 TLR2 FLNA SPTBN1 PIK3CA HRAS NBN PTPRJ BAP1 SDHB MAP2K1 ATP6V1B2 COL1A1 PDGFRB PTPN11 CCND1 MEN1 TSC2 SSX1 SPRED1 PAX7 NF2 DLC1 SMARCE1 FOXC2 MCC MSH6 GJC2 SDHD CTNNB1 EP300 PDGFRL FAM20C ABCA5 PLCD1 AXIN2 ANTXR2 BRAF KLLN SMO KIT PTCH2 PDGFB GREM1 TSC1 MSH2 TERT CHEK2 BAX FLCN SEC23B CDC73 VEGFC CEP57 NOTCH3 RSPRY1 PTPN12 BMPR1A MTAP MLH3 IFNG KCNN3 COL4A6 REST PRKCD TRAF7 DCC SOS1 LRP1 CDKN2C RAD54B PRKAR1A SSX2 COL4A5 CDKN1A TRIP13 FASLG FOXO1 CDKN2A FLT4 ASPSCR1 PLA2G2A MDM2 USF3 MC1R SLC22A18 HP_ABNORMAL_VISUAL_ELECTROPHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VISUAL_ELECTROPHYSIOLOGY NDUFS4 PROM1 OPA1 CRX PSAP CFHR3 ABCA4 ZNHIT3 GNB3 BEST1 PCARE CA4 ARL2BP USP45 BBS1 ARL6 SLC25A22 RAB3GAP1 ADAR PEX1 ADGRV1 GALC RPE65 LRAT RAB3GAP2 NYX BBS12 PDE6A OFD1 GUCY2D SPG11 GDF6 EMC1 IFT27 MKS1 NPHP1 IDH3B IDS ARSA GUCA1A USH2A ACOX1 TRPM1 EYS LCA5 MFF PRPF3 SPATA7 DHDDS FLVCR1 TBC1D20 TNFSF11 GNAT2 MYO7A IFT140 RS1 CEP78 PRCD IMPDH1 BBS5 AIPL1 BBS7 RPGR SNX10 ERCC8 TIMP3 NR2E3 HADHA KIAA1549 CLCN7 NOTCH3 PDE6B IDH3A IFT74 SAG PDE6C RHO PDSS2 RGR CWC27 PRPF31 BBS9 GNAT1 PDE6H CABP4 RP9 PRPH2 IMPG2 TOPORS RP1 BBS2 USH1C AHI1 GUCA1B RP1L1 CNGA3 POLG WWOX NRL IQCB1 PDZD7 SCAPER TYR CRB1 ZNF699 IFT88 CEP290 RDH12 CFAP418 CACNA2D4 REEP6 ZNF408 CNGB1 ARHGEF18 AAAS POMGNT1 RD3 SEMA4A MT-ATP6 CERKL AGBL5 IFT172 TPP1 ELOVL4 ARSG CEP104 BBIP1 MKKS MFRP RLBP1 CYP27A1 CLCC1 WHRN SLC7A14 ROM1 KIZ PCYT1A LZTFL1 CFHR2 NDRG1 NMNAT1 KCNJ13 MCOLN1 ARL3 RDH11 PLA2G6 CAPN5 PRPS1 TIMM8A SSBP1 KIF3B RNF216 COQ2 POGZ GRK1 ESPN OPN1SW CDH23 TTPA PIEZO2 PEX12 AGK PCDH15 PDE6G CLN3 CACNA1F SLC25A4 RAB18 ALG3 TULP1 MAK ATXN3 PRPF8 HGSNAT WDPCP NUP62 CNGA1 SUCLA2 FSCN2 LRIT3 DHX38 GRM6 FXN CDHR1 RPGRIP1 MFN2 KLHL7 ZNF513 HARS1 PPT1 HSD17B4 GJC2 CLN5 GNB5 TTC8 MERTK CYP4V2 CHM CLRN1 SNRNP200 ATXN1 SDCCAG8 LAMA2 NEK2 CNGB3 AHR LARGE1 TKFC MOGS PRPF6 RDH5 GPR179 OPN1LW ARHGEF2 PNPLA6 TUB PRPF4 CLN8 TCIRG1 CIB2 RP2 OPN1MW COX6B1 RBP3 FAM161A MT-TS2 PDE6D ERCC6 VSX1 BBS4 TRIM32 USH1G CEP19 ATF6 BBS10 SLC24A1 HP_ABNORMAL_FULL_FIELD_ELECTRORETINOGRAM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FULL_FIELD_ELECTRORETINOGRAM CACNA1F CFHR2 RLBP1 RHO CFHR3 GNB3 GNAT1 PDE6H CABP4 RPGRIP1 RP9 RS1 GRK1 BEST1 TTC8 ADAR NR2E3 RP1 CYP4V2 KIF3B CNGA3 AIPL1 RPE65 CERKL LRAT IDS OPN1SW NYX PDE6B SAG GUCY2D LARGE1 USP45 CFAP418 CACNA2D4 PCYT1A CNGB3 RDH5 GPR179 ALG3 PDE6C ACOX1 TRPM1 ZNF513 RPGR IDH3B NUP62 PROM1 ABCA4 POMGNT1 MT-ATP6 CLRN1 GNAT2 LRIT3 PRPH2 IMPDH1 GRM6 MCOLN1 RGR MFRP ATF6 SLC24A1 PPT1 HP_ABNORMAL_DARK_ADAPTED_ELECTRORETINOGRAM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DARK_ADAPTED_ELECTRORETINOGRAM GPR179 CACNA2D4 CFHR2 RLBP1 RHO TRPM1 SAG CFHR3 GNB3 GNAT1 CABP4 RS1 ABCA4 GRK1 LRIT3 GRM6 NYX PDE6B CFAP418 CACNA1F SLC24A1 HP_REDUCED_AMPLITUDE_OF_DARK_ADAPTED_BRIGHT_FLASH_ELECTRORETINOGRAM_A_WAVE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_AMPLITUDE_OF_DARK_ADAPTED_BRIGHT_FLASH_ELECTRORETINOGRAM_A_WAVE CABP4 GPR179 LRIT3 RHO TRPM1 GRM6 NYX PDE6B GNB3 GNAT1 CFAP418 GRK1 CACNA1F CACNA2D4 SLC24A1 SAG HP_CHORIOCAPILLARIS_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHORIOCAPILLARIS_ATROPHY ACVRL1 CRB1 CYP4V2 GUCA1A GUCY2D PRPH2 TIMP3 HP_ABNORMALITY_OF_FOVEAL_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FOVEAL_PIGMENTATION IMPG1 CFHR3 APOE HMCN1 SLC38A8 CFHR1 RAB28 CTNNA1 HP_MACULAR_THICKENING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULAR_THICKENING TSPAN12 RDH5 APC ARL3 KIAA1549 ZNF408 C1QTNF5 DHDDS RP9 PRPF31 CTNNB1 IDH3A NR2E3 CYP4V2 POMGNT1 NF2 RHO PDE6G PRPH2 TREX1 ARHGEF18 NDP NRL TRNT1 FZD4 RP1L1 MFRP HLA-A RLBP1 LRP5 VHL NOD2 REEP6 PRPF8 HP_YELLOW_WHITE_LESIONS_OF_THE_MACULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_YELLOW_WHITE_LESIONS_OF_THE_MACULA CFHR3 APOE HMCN1 CNGB3 IMPG2 IMPG1 ELOVL4 ABCA4 CFHR1 PROM1 CFI TIMP3 PRPH2 BEST1 CFH EFEMP1 HP_RETINOSCHISIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINOSCHISIS MFRP RS1 NR2E3 ACTB ACTG1 HP_YELLOW_WHITE_LESIONS_OF_THE_RETINA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_YELLOW_WHITE_LESIONS_OF_THE_RETINA RB1 FZD4 C1QTNF5 FAM111A CFHR2 IMPG2 CFHR3 IFT172 CFHR1 BEST1 TIMP3 XYLT2 TINF2 LRP5 SPATA7 ESPN CFH GUCY2D AGXT LCA5 PROM1 APOE HMCN1 CNGB3 TMEM98 ELOVL4 ALMS1 ZFYVE26 CFI PRPH2 TSPAN12 RLBP1 GUCA1A IMPG1 XYLT1 RDH5 ABCA4 RPE65 ABCC6 RHO NDP TREX1 LRAT NEU1 FBLN5 MFRP CTC1 KCNJ13 EFEMP1 CTNNA1 HP_MODERATELY_REDUCED_VISUAL_ACUITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MODERATELY_REDUCED_VISUAL_ACUITY OPA1 IMPG1 IMPG2 DNM1L RAC1 LRP5 HP_HETERONYMOUS_HEMIANOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HETERONYMOUS_HEMIANOPIA TRAF7 PDGFB CDH23 SMARCB1 BAP1 TERT CTNNB1 MEN1 AIP BRAF PIK3CA NF2 SMO SMARCE1 SUFU AKT1 HP_PARACENTRAL_SCOTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARACENTRAL_SCOTOMA RLBP1 ACO2 CYP4V2 CFH EFEMP1 CFI HP_VISUAL_ACUITY_TEST_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VISUAL_ACUITY_TEST_ABNORMALITY TRAF7 PDGFB APC C1QTNF5 POU3F4 SMARCB1 BAP1 TERT LRP5 PAX6 TUBB3 PIK3CA NF2 SMO SMARCE1 SUFU AKT1 HP_COLOR_VISION_TEST_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLOR_VISION_TEST_ABNORMALITY CNGB3 OPN1SW PDE6C AFG3L2 RPGR FA2H ATF6 PDE6H GNAT2 CNGA3 HP_ABNORMAL_VISUAL_FIELD_TEST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VISUAL_FIELD_TEST TRAF7 PDGFB CDH23 SMARCB1 BAP1 TERT CTNNB1 MT-ATP6 BRAF PIK3CA NF2 SMO SMARCE1 SUFU AKT1 HP_ABNORMAL_POSTERIOR_SEGMENT_IMAGING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_POSTERIOR_SEGMENT_IMAGING CNGB3 PMM2 PDE6C KIAA1549 RLBP1 RPGR PDE6H PRPH2 TIMP3 PROM1 PRPF31 AIRE ARSG CWC27 IDH3A CCDC28B ARL6 CFH KIF3B GUCY2D POMGNT1 SELENOI GNAT2 CNGA3 BBS1 SLC6A6 TRNT1 CFI HLA-A CFAP418 SLC24A5 CLCC1 ATF6 GUCA1A EFEMP1 HP_ABNORMAL_FUNDUS_AUTOFLUORESCENCE_IMAGING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FUNDUS_AUTOFLUORESCENCE_IMAGING BBS1 KIAA1549 PRPH2 CFI TIMP3 PROM1 PRPF31 AIRE ARSG CWC27 CFAP418 IDH3A RPGR CCDC28B ARL6 CFH GUCA1A KIF3B GUCY2D POMGNT1 EFEMP1 HP_ABNORMAL_OPTICAL_COHERENCE_TOMOGRAPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_OPTICAL_COHERENCE_TOMOGRAPHY CNGB3 PMM2 PDE6C RLBP1 RPGR SLC6A6 TRNT1 PDE6H PRPH2 TIMP3 HLA-A SLC24A5 CLCC1 ATF6 GUCA1A GUCY2D SELENOI GNAT2 CNGA3 HP_PHOTORECEPTOR_LAYER_LOSS_ON_MACULAR_OCT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHOTORECEPTOR_LAYER_LOSS_ON_MACULAR_OCT PMM2 HLA-A SLC6A6 TRNT1 CLCC1 HP_ABNORMAL_FOVEAL_MORPHOLOGY_ON_MACULAR_OCT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FOVEAL_MORPHOLOGY_ON_MACULAR_OCT RLBP1 SLC24A5 GUCA1A GUCY2D PRPH2 HP_PERIFOVEAL_RING_OF_HYPERAUTOFLUORESCENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIFOVEAL_RING_OF_HYPERAUTOFLUORESCENCE PROM1 PRPF31 AIRE CFH GUCA1A GUCY2D EFEMP1 PRPH2 CFI HP_HYPERAUTOFLUORESCENT_MACULAR_LESION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERAUTOFLUORESCENT_MACULAR_LESION BBS1 ARSG CFAP418 CCDC28B ARL6 CFH GUCA1A GUCY2D POMGNT1 EFEMP1 PRPH2 CFI HP_RETINAL_NEOVASCULARIZATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RETINAL_NEOVASCULARIZATION TSPAN12 NDP TREX1 FZD4 ZNF408 BEST1 CTNNB1 LRP5 CAPN5 LRRC32 HP_ANTENATAL_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTENATAL_ONSET GLUL LMNB1 FARSB LMOD1 MYH11 KIDINS220 SOS1 OBSL1 RPL10 RNF2 FARSA BICC1 ACTG2 KIAA0753 MNS1 KDELR2 SDHD MRPS22 CYP26B1 SCUBE3 RIPK4 MCM10 COX16 EIF5A KIF20A KIF5C PPP1CB CHUK NDUFC2 MKS1 DCC DYNC2LI1 TOGARAM1 XYLT1 HP_ABNORMAL_MORPHOLOGY_OF_MYOCARDIAL_TRABECULAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MORPHOLOGY_OF_MYOCARDIAL_TRABECULAE JUP MIPEP LDB3 SCN5A NPPA COA6 SDHA DTNA NONO ACTN2 MYBPC3 MIB1 ACTC1 PRDM16 TNNT2 MYH7 HCN4 SDHD HP_BRAIN_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRAIN_NEOPLASM APC RB1 FLI1 NF1 DMPK POLD1 COL14A1 RELA AAGAB ZFTA POLE HP_VEIN_OF_GALEN_ANEURYSMAL_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VEIN_OF_GALEN_ANEURYSMAL_MALFORMATION RASA1 PLCB4 EDN1 EPHB4 GNAI3 HP_CENTRAL_NERVOUS_SYSTEM_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CENTRAL_NERVOUS_SYSTEM_CYST LARGE1 SEPSECS GPC4 WDR73 BUB3 BUB1B SIX3 AHDC1 POMT2 FLVCR2 PDHB TMEM231 POLR3A EBP KIF7 FKRP FGFR1 PDHA1 VPS51 ADAR KRAS PEX1 NPHP3 OFD1 STIL ZIC1 TCTN3 GLI2 NUP88 C2CD3 TMEM216 NSD2 KCNQ1OT1 POMT1 ZIC2 POMK DYNC2I1 TXN2 BCOR DAG1 TCTN1 ATP6V0A2 IFT80 GDF6 SNX14 CSPP1 OCRL DYNC2I2 PSAT1 DPF2 LAMA1 FTO TMEM67 CRPPA SEMA3E ARID1B DYNC2H1 BRAF ATP6V1B2 LIPT2 SMARCB1 PDHX LARS2 PIGN MKS1 FGFR2 GRIA3 FARSA ABAT SLC35A2 TUBB SHH DOCK6 PPP1CB ZSWIM6 GPC3 POMGNT1 HRAS RPGRIP1L POMGNT2 FGFRL1 CDC42 CPLX1 AFF3 LONP1 KIAA0586 B9D1 ASXL1 SMARCC2 PUF60 FAR1 IGF2 MYOD1 NRAS TSEN2 MT-ATP6 DPH1 DISP1 SMARCD1 ATP6V1A ALG3 FGF8 CHD7 TXNDC15 EVC2 B4GAT1 OPHN1 ARID1A TMEM237 TMEM107 SOX4 ARID2 CTBP1 BUB1 SLC18A3 USP9X PLG AP1S2 NID1 WDR35 DOK7 CEP290 LETM1 DENND5A SMARCE1 RPGRIP1 COL3A1 COL4A1 B3GALNT2 FKTN WDR81 GLUL CCDC22 CTNNB1 B9D2 CDKN1C NUP62 DHCR7 TUBGCP2 SMARCA4 EXOC2 CPT2 B4GALT1 EVC PIEZO2 WASHC5 HYLS1 PMM2 TBC1D24 ODC1 MUSK PHGDH EXOSC3 KCNQ1 SMG9 CEP57 CC2D2A DPYSL5 CEP120 MAB21L1 D2HGDH GLI3 ATP6V1E1 RAPSN TSEN15 GMPPB GRM1 TRIP13 TMEM138 TCTN2 ARMC9 GFM1 TSEN54 VSX1 RXYLT1 RNF113A TSEN34 SOX11 HP_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARCINOMA APC POLD1 SMARCA4 RSPO1 MSH2 NLRP1 POLE DKC1 PTEN CDKN1B MLH1 HP_SACROCOCCYGEAL_TERATOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SACROCOCCYGEAL_TERATOMA SETBP1 MNX1 SETD2 APC2 NSD1 HP_INTRAVENTRICULAR_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRAVENTRICULAR_HEMORRHAGE F8 LMBRD1 KANSL1 RNF168 PET100 SPARC HP_TOOTH_ABSCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TOOTH_ABSCESS DMP1 FGF23 PHEX DLX3 NTRK1 ELANE ENPP1 HP_RENAL_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENAL_FIBROSIS GBE1 BSND NPHP1 NPHP3 REN ANTXR1 ACP5 SLC37A4 PKHD1 ARL3 NPHP4 SLC7A7 CLCN5 PTPRO MUC1 NDUFAF6 HP_EAR_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EAR_PAIN TRAF7 PDGFB SMARCB1 BAP1 TERT KRT16 KRT17 KRT6B PIK3CA NF2 SMO SMARCE1 KRT6A SUFU AKT1 HP_ABNORMALITY_OF_THE_PROTEIN_C_ANTICOAGULANT_PATHWAY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PROTEIN_C_ANTICOAGULANT_PATHWAY NGLY1 PROC PROS1 ALG8 DPM1 F5 DPAGT1 MPI ALG12 ALG6 HP_ABNORMAL_SERUM_INTERLEUKIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SERUM_INTERLEUKIN_LEVEL PRF1 PRKCD ATP8B1 IL2RB CD247 STXBP2 IL12RB1 STX11 RASGRP1 FASLG STAT4 PTPN22 ANKRD55 UNC13D FADD PTPN2 MEFV FAS NR1H4 ABCB11 POLA1 CASP10 IL2RA PSMB8 SP110 ABCB4 IL6R HP_INCREASED_CIRCULATING_INTERLEUKIN_6 http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_CIRCULATING_INTERLEUKIN_6 PRF1 STX11 UNC13D MEFV PSMB8 STXBP2 IL6R HP_ANOMIC_APHASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANOMIC_APHASIA PLP1 TREM2 MAPT GRN CHMP2B C9orf72 PSEN1 TMEM106B HP_PHOTOPSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHOTOPSIA CYSLTR2 GNAQ SF3B1 CACNA1A ARHGEF18 SCN1A PRRT2 BAP1 ATP1A2 GNA11 HP_ABNORMAL_JAW_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_JAW_MORPHOLOGY TRPS1 COL1A1 CCDC32 PIGA BUB1B TENT5A ALX3 NUP107 TPM3 ERCC8 DPM1 FOS GORAB TCTN3 RERE WDFY3 SMAD4 ARSL SMOC1 KAT5 ANKH AGPAT2 ANKRD11 AIMP2 CBL MAP2K1 ZEB2 NEXMIF CTSK SIN3A PEX12 SOS2 AIP COG4 FOXE1 GRHL3 CSGALNACT1 NXN LMNA KCNMA1 SOS1 CHST14 MYLK MIR140 TMEM70 SNRPN RAC3 HACD1 HUWE1 PIGN FIG4 NRAS KCNJ2 DIS3L2 C1R PLAG1 PARN PEX5 KBTBD13 ARCN1 VAC14 HNRNPU EFTUD2 MEG3 CDT1 MED12 PEX7 ERCC2 PQBP1 MYH8 EXT1 RPS29 RPS10 PTCH1 NCF1 CREBBP HYMAI B9D1 INSR SUFU AP2M1 DPH1 ITGA8 RFT1 SETBP1 AEBP1 RPS24 CHN1 NAA10 CHUK JARID2 BICRA PREPL DONSON PDE4D MAPRE2 ZMIZ1 PLA2G6 SLC9A6 SLC2A10 DCHS1 C12orf57 CEP152 COG1 FAT4 KDM5C WDR35 PGAP2 GDF11 SH3BP2 UBB ARHGAP29 GSC ELN SIX1 EIF4H SRPX2 PTPN22 B9D2 CDH11 TOR1A MED27 CRPPA ECEL1 FGFR2 BRD4 EDN1 MTX2 PI4KA RAI1 MKS1 FBN1 HIRA DLK1 CLDN3 HNRNPH2 TBX1 PTDSS1 SETD5 ATP6V1A TMEM216 MYH7 ODC1 TBCD SLC26A2 MYPN GLDN DZIP1L KAT6B CDC73 CC2D2A CLCN7 ZMPSTE24 NUP133 ADAMTS10 FKTN CASK SATB2 KCNN3 STAG1 D2HGDH ADAT3 RAPSN POLR1C SEC24D TOE1 IGF2 VPS13B NEK9 RTL1 EIF5A CEP57 TMEM270 LRP5 GLE1 SATB1 RAF1 PAX3 CEP290 RAD51C RPS28 SMPD4 HERC2 KIF11 BUB3 RIT1 FLNB RPL18 DNMT3B SLC25A24 ABCC9 DOK7 ATRIP RAB3GAP2 ESS2 GNAI3 NFIX CLCN4 IDS MYL2 IBA57 NSDHL TCOF1 FGD1 SLX4 ALX1 BMP4 TP63 HPDL PRKAR1A PTH1R FTO EED RNF113A METTL27 ARID1B SEC23A LMOD3 NALCN SLC6A9 RELN KIF7 TSEN54 PSMD12 MUSK TSR2 PPP1R12A HS2ST1 PPP1R15B DEAF1 ZC4H2 MAP3K7 CWC27 UBE3B PUS7 P4HTM SLC10A7 PDE6D SUZ12 PPP3CA PRRX1 TFAP2A GJA1 RLIM TAFAZZIN KDM4B SLC25A19 RFC2 ALG1 TTN PIGW LAGE3 UBE2T B3GLCT HS6ST2 SLC3A1 FOXP1 PEX3 CPLANE1 SNRPB ORC6 RBM8A PIGG CD247 TGFB3 COG7 TGFBR2 MEN1 SLC35C1 SLC18A3 ZNF341 CLIP2 AP3D1 EBP ZBTB24 SNAP25 OPHN1 PIGT LETM1 BDNF COL3A1 IFIH1 ADGRG1 PAX6 MITF TRIP12 TPM2 EP300 RPS19 SLC35A2 DNMT3A FANCL TGFBR1 LAS1L SOX5 SMC1A BGN BPNT2 KAT6A RBBP8 OFD1 FAM20C ERCC6 PYCR2 EYA1 TMEM107 RPL11 CLTCL1 DPYSL5 PTEN OTX2 ATAD3A PRKG1 ALG14 CLCF1 BMP2 DDX6 ALG9 RNU4ATAC TNNT3 FBN2 SMC3 LZTR1 ACTA1 SP7 TAPT1 GP1BB ESCO2 HSPG2 STAC3 STAT4 FMR1 SKI RPL10 SMAD3 COL11A1 BLM DLG1 HRAS CTDP1 TWIST1 MAP3K20 PCNT NARS1 GPC6 HBB FANCD2 TRIP4 CCDC88A LARGE1 KMT2E EXOSC1 NF1 HMGA2 GTF2I CFL2 TBC1D2B INTS1 MYCN AMMECR1 TERT COL2A1 DDB1 DNAJC21 BPTF MCTP2 C2CD3 TGFB2 TXNL4A BANF1 RAB18 FZD2 MGAT2 NUP188 PLAGL1 GNPAT SFRP4 RFWD3 LTBP3 LRP4 COL9A1 OTUD5 TUBB MIA3 GBA PEX16 PYROXD1 PTPN23 SMS RPS20 MAFB ERGIC1 DKC1 IGBP1 MADD UNC80 DVL3 AP4M1 MYH3 RPGRIP1L PEPD CACNA1G SLC6A8 SOX6 LBR TMEM67 IRF6 KIAA0586 COL11A2 ZBTB18 DNAJC30 DYRK1A GMNN SYT2 BCORL1 CEP55 TP53RK ANTXR1 MCM5 AGO2 PTPN11 TXNDC15 POC1A RECQL4 SEC24C SPECC1L COLQ RPL27 POLR1D INTU NSMCE2 PSAT1 SHOX ORC1 ERCC1 ACTG1 WASF1 TNFSF11 ASNS ATP7A RUNX2 STAG2 FANCA HERC1 DHCR7 CSNK2B RUSC2 PLK4 FRMPD4 MAGEL2 SCARF2 PIEZO2 TCF20 MYOD1 PUS1 FGF10 LGI4 ARL6IP6 SOX9 KAT8 UBE3A PLAA GTF2E2 GPKOW RYR1 ORC4 PEX2 CEP120 WNT3 FANCF CHRNA1 SIX5 ZNF292 XRCC4 ARVCF KCNK9 KCNH1 ATP10A KIAA0753 COX7B P4HB TRAPPC4 MAMLD1 SLC5A7 PSPH CNOT3 FLVCR2 GTF2IRD1 ERCC5 SPEN MYBPC1 SLC6A17 NTNG1 TRIO FLII GATA4 NUP88 RSPO2 RPL35 TERC TRMT10A RPL35A RAB3GAP1 DYNC2I1 SLC12A2 KPTN NDUFB11 WNT5A PITX2 TBC1D7 ADAMTSL2 DYNC2I2 TPRKB SOST PIGY DOCK3 FGFR1 XRCC2 MYMK TMCO1 AMER1 NOP10 ATR ADAMTSL4 ADAMTS3 CTNND2 MED13L CHRND DSE TGDS HDAC6 COL5A1 YY1 HDAC8 FANCC MFAP5 MSL3 PAH FLCN EDA IFT43 ANO5 MAD2L2 RB1 LIFR COLEC11 SEMA3E RDH11 SNIP1 FOXC1 MTM1 AP1S2 EHMT1 DPM2 CRLF1 MAN2B1 LAT2 NBN POLR1B MINPP1 GNPTAB MSTO1 B3GALT6 TNNI2 TUBGCP2 RPS7 DGCR6 POMT2 DPYD BSCL2 ALG11 LIMK1 TAB2 MESD CCBE1 ADAMTS2 COL1A2 LIG4 TRIP11 CENPE VAMP1 EXOC7 LTBP4 WNT7A USB1 EXOC6B ALG12 MOGS FLNA ATP6AP2 VPS35L NSD1 CEP135 RASA2 FANCG SPATA5 CTU2 COL9A3 BRIP1 FANCB FANCM PALB2 TONSL A2ML1 SH3PXD2B TGFB1 BMPER APC RAB23 SVIL TNRC6B PAX7 RPS6KA3 DHCR24 RHOBTB2 BRAF TBX4 GATA1 CENPF CHRNE RSRC1 MYO9A COG8 SC5D EZH2 ASXL2 PLXND1 TUBB3 RPS27 DYNC2H1 ERCC4 CTBP1 NOTCH3 ACTB OTUD6B LOXL3 EMG1 GPC4 ZNF699 ROR2 ATPAF2 PHIP FKRP YARS2 ZDHHC9 OSGEP FDFT1 POLE ZBTB11 CLIC2 PEX19 RRAS2 DSTYK DHODH COG5 SLC25A1 CD96 COL6A3 BCL7B PPARG SPEG COL13A1 NEB B3GAT3 SCYL2 BUB1 COMT PIGB DVL1 ATRX COASY BRCA2 MPLKIP PTCH2 CHSY1 CHAT TBCE ACAN ZNF335 POLR1A SVBP RRAS AFF4 TANC2 NHS CNTNAP1 COL9A2 TARS1 BUD23 OSTM1 ATG7 RPS26 IGF1 PTPN2 PMM2 SLC12A6 IGF1R SIM1 PHGDH BCL11B LAMA2 DDR2 AUTS2 KNL1 ERMARD GFPT1 EXTL3 AHDC1 KIFBP CENPJ LAMB2 TWIST2 EDEM3 BRCA1 GHR STRA6 PIGL POLR3A SLC35A3 APC2 PEX1 HYLS1 PHF21A HELLS CHRNG PEX26 SERPINH1 OCLN SELENON EMC1 RTTN PEX14 HOXB1 RARB TELO2 ABL1 CHST3 NELFA IFT80 PRKACA FGFR3 SMO PIEZO1 ARID2 MAPK1 CDC6 PAX1 ERF CDCA7 SPRTN TRAIP ZBTB20 EPG5 SON LOX DOCK6 NEK1 ERCC3 IQSEC2 GPC3 DPAGT1 KCNJ6 ACTL6A MAPK8IP3 ANK1 KCNJ5 PNKD TAF1 PIGQ CCNK RAD51 NOTCH2 IL11RA TMEM237 PLCB4 VPS33B PRKACB RPL5 HCCS FANCE ABHD11 POGZ MEGF8 DGCR2 KDM6A POLD1 FANCI VARS1 MBTPS2 WDR26 STX1A NEPRO COL12A1 MYO18B RIPK4 ASXL1 SETD2 SALL4 NECTIN1 WDR73 SMAD2 FGF3 UFD1 MED13 MRAS STAMBP BIN1 MAT2A POMT1 WRAP53 AKT1 CSPP1 GTF2IRD2 RNF125 VPS37D GRIP1 BRF1 EFEMP2 KCTD1 FOXG1 STEEP1 PDGFRB SF3B4 CUL4B EXT2 ANKLE2 PEX6 ZNHIT3 IARS2 GNB2 ADA2 HNF1B GPR101 PKHD1 IDUA GEMIN4 CRIPT SH2B1 CAVIN1 NHP2 TCTN1 GALNS PYCR1 PEX10 CDKN1C SCN9A GRIA4 MECP2 SOX18 ACTL6B TBL2 HEY2 NEDD4L WDR4 ERBB3 TBX15 UBR7 KCNK4 SSR4 FARS2 FGFRL1 CPLX1 CDH1 TINF2 RPL26 PUF60 IL1RAPL1 MYLPF SRCAP COL5A2 MMP2 KLHL41 OCRL GTF2H5 TASP1 ARNT2 RAD21 ITGA7 BRCC3 PURA JMJD1C LRRC32 MYH11 IGFALS WBP11 DNA2 NIPBL CUL7 OCA2 UPF3B GLI3 SEC31A ATP6V1B2 NSUN2 FHL1 RPL15 ACTA2 CANT1 CCDC22 EDNRA UBA1 BNC2 CPE ADAMTSL1 PIK3R1 ABCD4 TBCK RPL31 B4GALT7 RBM10 SLC29A3 LEMD3 BRAT1 KIDINS220 CTC1 AGA GLI2 SRY RREB1 REV3L TRMT1 CSNK2A1 WASHC5 RPS17 FBXW11 ALX4 COL6A1 CILK1 PRRT2 NSD2 GAD1 MYT1L RPS15A WT1 TMEM231 KRAS FOXE3 CA2 FOXF1 PIGV COL6A2 FBXL3 POLA1 TBC1D20 MBD5 VPS13A CDK5 GATAD2B CNOT2 DGCR8 KIF14 DLX4 CHD7 GLB1 IRX5 GRIA3 ABAT ANKRD55 DYM SHANK3 MAF MRPS22 PKDCC PIGF PIK3CA SPOP ASPH AFF3 COG6 ACTG2 HBA2 FAM149B1 POMGNT1 NPM1 PRMT7 ARX SEMA5A MED25 PGAP3 LEMD2 PALS1 KDELR2 PEX11B PCGF2 C1S IL2RB IL2RA RPGRIP1 FUT8 NCAPG2 MSX1 AGRN ASXL3 SPRED1 PGM1 EIF4A3 BCL11A CDC45 TRRAP KDM6B BAZ1B HSD17B4 PIGO ADGRG6 RTEL1 PIK3C2A HYOU1 NTNG2 HBA1 VPS53 PEX13 YARS1 CAV1 BICD2 THOC6 FKBP6 CLDN4 HTT TRIP13 MLXIPL TCTN2 SMG8 HP_ABNORMAL_C_PEPTIDE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_C_PEPTIDE_LEVEL CNOT1 CEL AGPAT2 ABCC8 KLF11 INS NEUROD1 INSR BLK HNF4A APPL1 HADH GCK NAB2 STAT6 PDX1 FOS PAX4 HNF1A KCNJ11 PPARG UCP2 CAV1 BSCL2 CAVIN1 HP_REDUCED_C_PEPTIDE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_C_PEPTIDE_LEVEL KCNJ11 CNOT1 INS GCK NAB2 STAT6 HP_INCREASED_C_PEPTIDE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_C_PEPTIDE_LEVEL FOS PPARG UCP2 AGPAT2 ABCC8 CAV1 HNF1A HADH BSCL2 INSR CAVIN1 KCNJ11 HP_SCAPHOCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCAPHOCEPHALY HSD17B4 IFT122 IFT43 GLI3 FBN1 TRAIP KCNJ2 KIF15 KPTN ASXL3 KCNJ5 CNTN1 DPH1 TBC1D7 ERGIC1 IFT140 FBN2 ARCN1 NFIX AGO2 IL6ST ALG14 PEX19 IDS OFD1 IL11RA KRAS SOX6 TWIST1 HP_ABNORMAL_TONGUE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TONGUE_MORPHOLOGY LMNB1 FOXE1 RTL1 GTF2I ALX3 CCDC47 GAA PTPN22 GJB6 DDX59 FOS GPR101 TCTN3 LMNB2 MCTP2 NOP56 C2CD3 CUBN SH3TC2 ECM1 CAVIN1 SPTBN1 PLCB4 FAM20C AGPAT2 TCTN1 MAN2B1 P4HA2 AGA GJB2 TBX22 FREM2 TSHB AIP MGAT2 POU1F1 PLAGL1 PLXND1 MT-TE NXN CRPPA TBL2 GPC4 PTEN ATP6V1B2 DYNC2H1 PRKAG2 COL11A1 PQBP1 KLLN SNRPN SDHC GRIP1 ENG FIG4 MKS1 TBX15 KCNMA1 NFIX SLC26A4 DVL1 LHX3 KIAA0753 VAC14 DNMT3B ZNF699 ROR2 MEG3 GPC3 ARSB DVL3 RPGRIP1L LMNA TMEM67 NCF1 POP1 BTK HYMAI B9D1 INSR ATRX COL11A2 CLIC2 DNAJC30 GSN HNRNPK PIK3C2A NRXN1 RIPK4 SETBP1 BCR PRRX1 BCL7B ZFP57 PPARG TXNDC15 ARID1A PAX8 RERE IYD POLR1D PIGB SLC5A5 TSHR WDR35 DMPK FUCA1 POMT2 FKRP ELN KDM5C RUNX2 EIF4H OCA2 COL2A1 HRAS GLI3 NEFL SRPX2 B9D2 NEK1 CDKN1C AFF4 UBE3A DHCR7 CSNK2B GMPPB POLR1B IDUA ECEL1 EDN1 BUD23 MTX2 EDNRA SGCG SDHD DLK1 PSMB8 CLDN3 BSCL2 SOX9 KIF7 TMEM216 POMT1 KRT14 MYMK EXOSC3 KCNQ1 LARGE1 EHMT1 TBCK ERLIN2 CPLANE1 LAMA2 CC2D2A SMARCA4 CEP120 RBM10 NKX2-1 KCNN3 IL36RN PANK2 MED13L POLR1C KY AMN TRMU KCNH1 NFASC TPO VPS13B LIMS2 POMGNT1 REV3L FZD2 TMEM270 SLC6A19 SMARCB1 HS2ST1 CEP290 FIBP TMEM231 GTF2IRD1 POU4F1 PEX1 SLC25A24 ABCC9 NKX2-5 HELLS OFD1 RSPO2 GNAI3 KCNQ1OT1 HEXB GLB1 IDS DYNC2I1 ACVRL1 TCOF1 TELO2 LHX4 SLC46A1 IFT80 WNT5A BMP4 SNX14 CSPP1 DYNC2I2 VPS13A ABCC8 SMO FTO METTL27 PEX16 LIFR PIK3CA RAB3GAP2 FLNA INPP5E PROP1 MORC2 CDCA7 FRG1 HLA-DRB1 DUOX2 PIGS SLC39A4 HESX1 PDE6D ZMPSTE24 TGDS LMBRD1 MMP1 AFF3 RFC2 TRIM37 FAM149B1 IGF2 CRKL TAF1 ALG3 USF3 NEU1 CHUK SNRPB MED25 COG7 TMEM237 TMEM107 AMPD2 SLC35C1 CLIP2 SNIP1 ABHD11 ACTB ALG8 MMACHC ZBTB24 RPGRIP1 FDX2 KRT5 THRA ADGRG1 LAT2 STX1A CCDC22 PIGW TG IFT140 SOX5 HLA-B MAPK1 RBBP8 IL6ST LIMK1 ALG6 FRAS1 BAZ1B TRAF3IP2 SDHB OTX2 GNPTAB SLC52A3 GATA1 VPS33A SEC23B PI4KA WNT10A POMK DUOXA2 RALGAPA1 AKT1 GTF2IRD2 CAV1 KCNJ11 CLTRN KRT6A RNF125 FKBP6 CLDN4 PTDSS1 COL7A1 VPS37D MLXIPL RAB3GAP1 TCTN2 FAM111A FOXG1 PTH1R PKP1 CUL4B HP_ABNORMAL_TONGUE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TONGUE_PHYSIOLOGY SLC39A4 NDUFS4 FRAS1 CACNA1A SCN1A VCP SLC25A21 GNAI3 SYNGAP1 SLC52A3 SMN1 MTPAP EXOSC3 ASAH1 ALS2 AIFM1 ADPRS ELP1 NTRK1 NOP56 VWA1 SH3TC2 CHCHD10 TSPYL1 AGTPBP1 PLCB4 FXR1 EDN1 SLC52A2 RETREG1 KCNK9 KIF1A WNK1 SMN2 TBCD UBA1 GIPC1 ATP1A2 ATP13A2 GAA PRRT2 RMND1 TUBB4A OPTN SCN9A HP_ENLARGED_TONSILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_TONSILS CD40LG IDUA IDS AKT2 IL2RA HP_GINGIVAL_RECESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GINGIVAL_RECESSION C1R CTSC DSP FIG4 VAC14 HP_ABSENT_FOVEAL_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_FOVEAL_REFLEX RHO ATF6 CNGB3 RDH5 PRPH2 CACNA1F PDE6C RPGR PDE6H RBP4 HPS6 RLBP1 GNAT2 CNGA3 HP_WHEEZING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_WHEEZING SPEF2 ATP8B1 DNAI2 CCDC39 CFAP221 DNAH1 SERPINA1 ODAD2 RSPH4A DNAAF6 DNAAF2 SCNN1G ODAD3 DNAH9 RSPH9 CRLF1 SCNN1A MCIDAS DNAH11 DNAAF3 CCDC40 CCDC103 SCNN1B HLA-DQA1 DNAAF4 HLA-DQB1 TTC12 DNAAF1 GAS8 DNAJB13 CFAP300 RSPH1 DNAAF5 CCNO DRC1 CCDC65 FCGR3A FOXJ1 OFD1 SPAG1 NKX2-1 ZMYND10 CFTR DNAI1 NME8 NOS1 NEK10 ODAD1 DNAH5 ODAD4 RPGR RSPH3 DNAAF11 CFAP298 LRRC56 HYDIN DNAL1 STK36 GAS2L2 HP_ABNORMAL_BREATH_SOUND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BREATH_SOUND PAX8 HLA-DRB1 GNPTAB RTEL1 CFAP221 DNAH1 ODAD2 TRPV4 SLC18A3 RSPH4A DNAAF2 SCNN1G SERPING1 DSP DPP9 FUZ FLNA MUC5B DNAH9 LAMB3 CRLF1 SLC18A2 RYR1 SCN4A SNAP25 CHAT MCIDAS SLC25A1 KIF22 HLA-DQA1 DNAAF4 CSF2RB TTC12 SLC5A7 DNAAF1 DNAJB13 PLP1 AGRN CFAP300 CCNO DRC1 CCDC65 FOXJ1 SCNN1B MYO9A SPAG1 CCDC40 GTPBP3 ZMYND10 DNAI1 TERT NEK10 ODAD1 RSPH3 COQ2 SCARF2 SCNN1A DNAL1 GAS2L2 SPEF2 ATP8B1 SFTPA2 DNAI2 CCDC39 SFTPA1 SERPINA1 SLC52A3 DNAAF6 VPS33A IGHMBP2 ODAD3 VAMP1 RSPH9 DNAH11 DNAAF3 COL13A1 CCDC103 LAMC2 MIR140 D2HGDH HLA-DQB1 ABCA3 TSPYL1 TERC GAS8 RSPH1 DNAAF5 FAM13A FCGR3A LAMA3 SYT2 OFD1 NKX2-1 CFTR NME8 NOS1 ATP11A CSF2RA STN1 SFTPC DNAH5 ODAD4 RPGR PARN MAP3K7 DNAAF11 CFAP298 LRRC56 HYDIN STK36 HP_CRACKLES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRACKLES NKX2-1 TERC MUC5B HLA-DRB1 CFTR SFTPA2 RYR1 TERT RTEL1 ATP11A CSF2RA STN1 SFTPA1 SFTPC SCNN1G FAM13A PARN SCNN1A SCNN1B DSP DPP9 CSF2RB ABCA3 HP_SHOULDER_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHOULDER_PAIN HELLPAR B2M TONSL SMAD6 CFI PMP22 CFH CD46 HP_HIP_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIP_PAIN VCP MATN3 HNRNPA1 COL2A1 HNRNPA2B1 TRPV4 LMNA BSCL2 ZMPSTE24 HP_KNEE_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KNEE_PAIN B2M SLCO2A1 COL2A1 COL9A1 MATN3 COL9A2 COL9A3 COMP BSCL2 TRAPPC2 TONSL LMX1B HP_CHOKING_EPISODES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHOKING_EPISODES VAMP1 SCN4A SNAP25 SLC25A1 ZNF699 CHAT AGRN SLC2A3 SLC18A3 SLC5A7 COL13A1 HTT CACNA1A PLA2G6 SYT2 MYO9A HP_ABNORMALITY_OF_VENOUS_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VENOUS_PHYSIOLOGY MPL HFE JAK2 PIGA BMPR2 CD55 F5 TET2 HP_HETEROTAXY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HETEROTAXY CRELD1 NR2F2 NSD2 ZIC3 CCDC32 GATA6 CFC1 CPLX1 PKD1L1 GDF1 CFAP53 CTBP1 FOXJ1 MMP21 NELFA LETM1 GATA4 NODAL ACTG2 CCDC39 FANCB PIGG KDM3B HP_SCLERAL_STAPHYLOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCLERAL_STAPHYLOMA IMPG2 HADHA ARL2 VPS4A OCA2 BEST1 PIGT MC1R HP_ADDICTIVE_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADDICTIVE_BEHAVIOR RARA ADH1B TLR3 TRAF3 TBL1XR1 ZBTB16 TICAM1 BCOR HTR2A TBK1 STAT5B SLC2A3 NABP1 NUMA1 NPM1 ADH1C HTT STAT3 PML IRF2BP2 GABRA2 FIP1L1 UNC93B1 PRKAR1A HP_ABNORMAL_CARDIAC_VENTRICULAR_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CARDIAC_VENTRICULAR_FUNCTION GDF1 KIF20A TGFBR2 ENPP1 MT-TL1 POLG FBN1 MT-CO2 FOXE3 MYH11 EIF2AK4 MT-TV ROR2 DMPK LDB3 SCN5A POMT2 SDHAF1 MT-TF SLC6A6 NPPA COA6 DAXX APOB SELENON LMNA FHOD3 MYH6 MYH7 TGFB2 PCSK9 TGFB3 MYPN FKRP BTNL2 MT-TK ABCG5 TET2 LDLRAP1 FBLN5 PRDM16 ACTA2 MED13L GATA6 NKX2-5 SDHD POLG2 TTN EYA4 TBX20 TGFBR1 GTPBP3 TLL1 SGCG EFEMP2 FLNC VHL MT-TS1 HEY2 DLD DYSF MYLK MT-ND1 ABCC6 OTUD5 SMAD2 TNNI3 PRKG1 SLC34A2 MT-ND6 MT-ND5 ATRX LOX TOP3A LAMA2 PPCS DVL1 ACADVL LDLR MAT2A ZMPSTE24 SDHB MT-TW ELN POMT1 MT-CYB TNNT2 MT-TQ HLA-DRB1 NONO B2M SMAD3 TWNK GATA4 WNT5A SDHA MFAP5 CITED2 BMPR2 RRM2B ABCG8 MT-TC TAB2 ACTC1 SLC25A4 RPL3L MT-TS2 GAA MT-CO3 MT-CO1 SMAD4 HP_ABNORMALITY_OF_PULMONARY_CIRCULATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PULMONARY_CIRCULATION PROC PDSS1 IRF5 ARHGAP31 MGP MT-TS1 ENG UBAC2 RBPJ CAV1 EOGT SLC37A4 MT-ND6 RTL1 SLC25A24 EIF2AK4 TERT MEFV CCR1 KLRC4 FOXF1 NFIX C4A MYH6 F2 ACVRL1 FAS BANF1 KRT8 MT-TS2 GATA6 KRAS COL1A1 TNFSF11 GBA TBX20 IDUA JAK2 SNX10 FLNC TLR4 MLX NOTCH1 CLCN7 MT-TH NKX2-1 NF1 AKT1 HLA-B FIG4 COG1 MPL SLC34A2 NFU1 HSPG2 CBS MT-CO1 PTEN NDUFA8 PIGN VAC14 ALMS1 ZNF699 CTCF SFTPB MEG3 ZMPSTE24 STAT4 IL12A-AS1 SERPINC1 LMNA TNNT2 CACNA1D IKBKG BMPR2 GATA4 MTHFR CITED2 GDF2 FBN1 ERAP1 FOXP1 MT-TW ACTC1 RPL3L HLA-DRB1 SCARB2 UBE2A CCN2 MED25 TLL1 MT-ND4 PIGA FGFR1 KIF20A SPECC1L COLQ ENPP1 LIFR MT-TL1 COX5A IL23R KCNK3 COX7B SMAD9 KCNJ5 KIAA0319L TET2 MMACHC LIPT1 MT-CO2 DAAM2 MYH11 MYPN SFTPA2 PLP1 PROS1 AFF4 FGFR3 NOD2 SMARCAL1 NKX2-5 MT-ND1 AGGF1 IL12B BTNL2 CCR6 MT-ND5 F13A1 CD55 COX8A KRT18 STAT1 MUC5B FLNA ABCD4 HABP2 ABCC6 NDUFB10 TNNI3 MT-CO3 IL10 TBX4 IL12A DLL4 COL1A2 VPS33A THPO HBB LAMA2 PPCS MED12 ATP5F1A SLC29A3 MT-TF SMAD4 SFTPC TCIRG1 MT-TQ GNAQ PAM16 KCNN4 DOCK6 PIEZO1 CHST3 SARS2 GJA1 ACTA2 COX6B1 SLC4A1 LAMB2 G6PC3 DLK1 HP_REDUCED_FEV1_FVC_RATIO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_FEV1_FVC_RATIO SCNN1G DNAH11 ENG CFTR SCNN1A SCNN1B HLA-DPB1 HP_ABNORMALITY_ON_PULMONARY_FUNCTION_TESTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_ON_PULMONARY_FUNCTION_TESTING TPM2 HLA-DRB1 NEB B3GALT6 GNPTAB AK9 PRTN3 NLRP3 MT-TN NFKB2 SELENON HLA-DPA1 CHCHD10 HLA-B SLC34A2 MYO1H TNFRSF13B RTL1 EIF2AK4 MYOT TERT ICOS SMARCB1 FKRP CD81 HLA-DPB1 CHRND PIEZO2 SCNN1G TTN COL13A1 ACTN2 NDUFAF6 ITCH CSF2RB IDS AKT1 HPS1 CR2 TPM3 CHRNB1 BAP1 GALNS SFTPA2 SGCG ABCC6 SCN4A TOR1A ACTA1 COL6A2 DNASE1L3 MYPN CHRNA1 PIK3CA NF2 SMARCE1 HES7 RAPSN BTNL2 HPS4 CRPPA GZF1 GIPC1 MT-TL1 MUC5B MEGF10 DNAH11 PARN VCP COPA DOK7 SCNN1A SMO CD19 PDGFB SLC12A6 TSC1 GLB1 ENG TSC2 MYH7 RTEL1 SLC25A21 MAP3K20 FRG1 XYLT2 CHRNE FARSA TNFSF12 TRAPPC11 PYROXD1 KBTBD13 SYNE1 PLOD1 DDR2 UNC45B ALMS1 ACP5 CSF2RA MEG3 MT-TS1 FCGR2A TNFRSF13C SCNN1B CFTR MS4A1 STAC3 MUSK PTPN22 MESP2 XYLT1 TRAF7 SFTPC LRP4 DKC1 BAG3 NEK10 TGFB1 FLNB IKZF1 PRKCD STK36 COL2A1 SUFU NKX2-1 MCIDAS RYR1 FGFR3 RNU4ATAC AGRN CTLA4 KLHL41 DLK1 NFKB1 MT-TL2 RNF168 LRP12 HP_INTERLOBULAR_SEPTAL_THICKENING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERLOBULAR_SEPTAL_THICKENING SLC34A2 BMPR2 CSF2RB SFTPB EIF2AK4 HP_RAYNAUD_PHENOMENON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RAYNAUD_PHENOMENON GUCY1A1 STAT4 STING1 COQ2 RNASEH2C RNF125 CLCNKB ACP5 IRAK1 IFIH1 SAMHD1 AGXT COL4A1 TREX1 RNASEH2B RNASEH2A ZMPSTE24 LBR ADAR SLC12A3 SPP1 LMNA ADA2 HP_CORONARY_ARTERY_ANEURYSM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORONARY_ARTERY_ANEURYSM ABCG5 LDLR ABCG8 LDLRAP1 PRKG1 APOB PCSK9 HP_HYPERINTENSITY_OF_CEREBRAL_WHITE_MATTER_ON_MRI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERINTENSITY_OF_CEREBRAL_WHITE_MATTER_ON_MRI PSAP ODC1 PLP1 CACNA1G DDHD2 CLN5 RPL10 ARSA ALG2 PAK1 ACTL6B CYP7B1 MMACHC RARS1 ZFYVE26 SPG11 PIK3CA GFM2 CNP ATN1 AHCY AP5Z1 DPYD CLN8 MSTO1 SDHB SLC39A14 PUS3 UBTF PDP1 LMNB1 ACTA2 TREX1 SELENOI COL4A1 NKX6-2 STRADA TM4SF20 AKT3 HTRA1 GM2A GAA TRAPPC12 B4GALNT1 RFT1 CYP27A1 PYCR2 CNKSR2 NOTCH3 LEMD2 HP_PERIVENTRICULAR_WHITE_MATTER_HYPERINTENSITIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIVENTRICULAR_WHITE_MATTER_HYPERINTENSITIES ACTA2 SELENOI PSAP STRADA MMACHC DDHD2 CLN5 RPL10 ARSA GM2A CNP PAK1 ACTL6B CNKSR2 HP_ABNORMAL_GASTROINTESTINAL_MOTILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GASTROINTESTINAL_MOTILITY MDM2 MYH11 RRM2B HSD17B10 TRAPPC11 MT-TS1 CDKN2A BRCA2 MT-TL1 FLVCR1 MT-ND6 MYO1H MYL9 ACTB FAH DMPK SLC6A8 FOXP3 POLG NUTM2B-AS1 IVNS1ABP RABL3 GUCY2C UBR7 TANGO2 IDS MT-CO2 HMBS TXN2 MT-TS2 AAAS HMGA2 EWSR1 SAMD9 DHCR7 RAD21 MT-ND1 CAVIN1 MTRFR SOX10 MT-ND5 CLMP STAT3 MT-TH TWNK GUCY1A1 GLA ACTG2 PHOX2B MT-CO3 ATP1A2 FLNA TP53 SON MT-CO1 CDK4 GMPPA WT1 CPOX SMAD4 FCGR2A PALLD FUS COL4A6 BRCA1 CFTR MT-TF HNRNPK TYMP SLC1A3 LMOD1 CACNA1A MT-TQ TGFB1 COL4A5 UNC45A DDIT3 PPOX ATP1A3 IARS2 MT-TW ACTA2 KRAS WFS1 MT-ND4 MYLK PALB2 HP_PRURITIS_ON_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRURITIS_ON_HAND ATP8B1 CFTR NR1H4 ABCB11 ABCB4 HP_ABNORMAL_PERISTALSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PERISTALSIS MYH11 GUCY1A1 GLA TRAPPC11 LMOD1 ACTG2 ACTB PHOX2B AAAS COL4A5 FLVCR1 SAMD9 MYO1H MYL9 RAD21 IARS2 ACTA2 GMPPA CLMP STAT3 IVNS1ABP COL4A6 MYLK HP_LOW_APGAR_SCORE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_APGAR_SCORE ALDH7A1 PLPBP USP9X PDHA1 LONP1 SLC13A5 PRPS1 MCTP2 PNPO HP_ELEVATED_GAMMA_GLUTAMYLTRANSFERASE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_GAMMA_GLUTAMYLTRANSFERASE_LEVEL LIPA TREX1 SLC51B ABCB4 MRPL3 SLC25A13 COG6 PKHD1 MICOS13 DZIP1L ALMS1 HP_GLOMERULAR_DEPOSITS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLOMERULAR_DEPOSITS COL4A5 GATA3 SPRY2 COL4A4 MMP1 NUP107 COL4A3 ARHGDIA CFH CEP83 NOS1AP MME COL7A1 DGKE LMX1B HP_PULMONARY_VENOUS_HYPERTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_VENOUS_HYPERTENSION FLNC SLC4A1 KCNN4 PIEZO1 KIF20A MYPN TNNI3 TNNT2 SLC37A4 HP_ABNORMALITY_OF_CARDIOVASCULAR_SYSTEM_ELECTROPHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CARDIOVASCULAR_SYSTEM_ELECTROPHYSIOLOGY SCN5A SDHD A2ML1 CIZ1 GAA PTPN22 MT-ND6 SCN3B MT-CO2 HCN4 AGXT CDKN2B MT-TV LDB3 GNAS SVIL LAMB3 HNF1A MT-TK TP53 DLL1 TDGF1 FHOD3 RAF1 MYH6 MYH7 LMNA NAA10 NDUFS2 CBL MT-TS2 SMAD3 STX16 SIX3 MT-ND1 DES SOS2 PRDM16 GNB2 TSHB SCN2B RANGRF POLG2 POU1F1 MT-ND4 RYR2 MT-ATP6 FOXH1 RHCE FGF8 SOS1 KCNQ1 TRPM4 TMEM70 MT-ND2 AKT1 SDHC NRAS KCNJ2 CALM2 GLI2 GATAD1 FBP1 MT-CO3 SHH CDH23 PEX3 DMPK CPOX NDUFA8 PKP2 LARS2 RET CALM3 ZNF699 TECRL GPC3 UQCRFS1 CSRP3 LAMC2 CACNB2 CACNA1D MAX LRP1 NCF1 TBX20 ACAD9 TGIF1 MT-TL1 MT-TE CLIC2 DSP PPOX RRAS2 RRM2B MT-TW KCNE3 MT-TC BVES TNXB MYBPC3 NKX2-5 DNAJC19 FHL1 ABCC9 BCL7B SGO1 PTCH1 DISP1 MYLK2 CACNA1C MDH2 HNF4A MYL3 MT-CYB SLC25A20 IYD MT-ND5 RAB3GAP2 KCNK3 SELENON CACNA2D1 CASQ2 RBM20 FBXL4 CDKN1B MT-TF NPPA YY1 ELN CALM1 PRKAG2 NODAL AKAP10 HEPHL1 TANGO2 EIF4H ABCA12 CAV3 GLUL HRAS COQ9 RRAS TOR1A CASR MT-CO1 FGFR1 LDLRAP1 MED13L TBX5 AKAP9 BPTF KIF1B BUD23 LEMD2 PSMB8 MT-TS1 CLDN3 ACTC1 SYNE2 ATP6V1A KCND3 TAB2 CDC73 LAMA2 PPA2 SDHB PEX12 DCAF17 TNNC1 TGFB3 CPT2 FH TRDN CDKN2C AMN SDHA CDKN1A MRPL12 TPO GNAQ HFE TMEM270 NF1 SALL4 ABCC8 GPC4 RIT1 RNASEH1 BMP2 RYR1 KCNJ18 KIT PIK3CA MEN1 VHL CSF2RB IDS GLA ZIC2 HADHA LHX4 TMEM127 ACTN2 SNTA1 FOXC2 TTN SLC19A2 MGAT2 POMT2 KCNH2 ERCC8 SCO1 METTL27 TGFBR1 FLNC MADD KYNU MFAP5 FLAD1 HMBS ATRX PTEN DUOX2 NDUFB11 HESX1 ABCC6 SPECC1L IFNG PLEC CDH2 TAFAZZIN RFC2 ELP1 KCNJ5 IKZF1 CITED2 ATP1A3 SCN1B SCN4B GDAP1 LAMP2 PSMD12 NEU1 XK PEX13 DSG2 ACTA1 HADHB JUP ABCA3 KIF20A PRTN3 CLCNKB STAG2 HLA-B HCCS SCNN1A CLIP2 WAS RMRP ABHD11 TCAP SCUBE3 MTFMT SCN10A DST PHYH ATP6V1E1 STX1A CREBBP BTNL2 PEX7 SFTPB SCO2 DNMT3A MT-ATP8 NEXN DPP6 KCNJ11 MYPN MMP14 MGME1 TMEM43 TNNI3 PLN CLCF1 WIPF1 VPS33A GJA5 MRAS WIPI2 COL4A1 LDLR LZTR1 GPD1L GTF2IRD2 ALDOA HJV CACNA1S PLXND1 VPS37D BRF1 NDUFB8 SURF1 PHOX2B HBB EFEMP2 DSC2 CSF2RA KCNE5 KCNE2 GTF2I LRP6 HLA-DPA1 GNA11 SEMA3A JPH2 CUBN UCP2 ANK2 GPX4 BANF1 P4HA2 ABCG5 TSC2 SCNN1B DMD SCN9A COX7B SCN4A SOX10 GATA4 ISCU TBL2 CTNNA3 CPT1A GYG1 EP300 DYSF GABRA3 ATP1A2 EMD BRAF HSPG2 TOP3A LHX3 ACADVL PPP1CB TNNT2 HLA-DRB1 APRT GMPPB ACADM ASXL1 DNAJC30 GSN GTPBP3 PEX2 HDAC4 KCNA5 MECP2 PEX6 SRSF2 TPM3 PTPN11 TLL1 POLG PEX5 CRELD1 TPM2 KCNE1 PAX8 SLC5A5 ALPK3 MYO1H TSHR DBH SDHAF1 TPM1 TTPA MTM1 LIPT1 GJA1 CDON DPAGT1 HADH GATA6 FMO3 EYA4 PYGM STIL MEFV RHD TET2 TSPYL1 NKX2-6 PIGU GNB5 SCNN1G TBX3 TGFBR2 GFM2 GATA5 NR2F2 EPAS1 SLC1A3 MYL4 PEX16 BRAT1 MT-TQ USP18 SLC40A1 SFTPC SLMAP NOS1AP SRY SLC25A11 SDHAF2 ERCC6 CTLA4 PSAP MT-ND4L MMP2 GDF1 ENPP1 GTF2IRD1 KRAS MTO1 APOB SLC2A10 PCSK9 MT-ND3 PEX26 COQ4 GAS1 MT-TH PEX10 RHAG ALG10B PROP1 GALC SLC12A3 DLST ECE1 TTR NDUFAF3 HLA-DPB1 PEX14 LAMA3 SLC25A4 TDP2 TNNI3K PEX19 GBA SMC1A GCGR CNBP NUP155 PCCA DAXX SYNE1 PEX1 KCNJ8 CRLF1 LAT2 GNAI2 TG PCCB CAVIN1 PGM1 MRPS14 FXN HTRA2 TWNK LIMK1 PEX11B BAZ1B HMGCL MYOZ2 PNPLA2 TSC1 DUOXA2 CACNA1A FKBP6 CLDN4 RASA2 MYL2 MLXIPL ABCG8 DTNA LRP12 HP_ABNORMAL_MORPHOLOGY_OF_THE_GREAT_VESSELS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MORPHOLOGY_OF_THE_GREAT_VESSELS A2ML1 COL1A1 CCDC32 NRAS MGP LEMD3 BUB1B DNAH1 PRKG1 KMT2D HPGD PTPN22 FANCB RAB23 KANSL1 WDFY3 GLI2 ERCC8 ARSL MYH7 DHCR24 MYRF NAA10 GATA1 GATA5 CBL SPEN MAP2K1 SMAD3 KRAS ZEB2 RBM8A SOS2 IFIH1 FLNB SAMHD1 ELN MRPS16 NKX2-5 DNAJB11 RPS15A CSGALNACT1 NXN NOTCH1 KCNMA1 SOS1 RPS27 ERCC4 CRTAP MYLK HUWE1 CCDC39 PIGN FIG4 ZIC2 NOTCH3 DIS3L2 MKS1 CDON RBP4 PRKCZ ACTB TMTC3 SUCLG1 TDGF1 SHH SIK3 SALL4 RSPRY1 STXBP1 LARS2 CALM3 VAC14 ZNF699 CTCF ROR2 SFTPB MEG3 GPC3 TRIP11 UQCRFS1 EXT2 PQBP1 GJA5 RPS29 RPS10 GAS8 NCF1 MEGF8 HYMAI GBA HNRNPK RRAS2 AMMECR1 AEBP1 UBE2A BCL7B DNAH5 PTEN RPS24 GATA6 CACNA1C SMAD4 JARID2 BICRA ARID2 RERE B3GAT3 BUB1 COMT COL5A1 RSPH4A ZMIZ1 SLC2A10 BRCA2 C12orf57 YY1AP1 GDF1 DNAH9 SRCAP NSD1 ARID1B NADSYN1 EIF4H LMX1B TTC12 PACS1 PTCH1 CITED2 POLR1A NONO JAG1 SVBP RRAS TMEM94 AFF4 TANC2 PPP2R1A CCDC65 FGFR1 LDLRAP1 MED13L MED27 TBX5 BPTF POLR1B FLNA APOE BUD23 ARFGEF2 LRRC56 KAT6A EIF2AK4 FBN1 HIRA STAG2 DACT1 CLDN3 RPS26 CYP7A1 TBX1 NPHP3 FOXH1 TBX4 BAP1 HSPG2 DLL4 SMAD6 BCL11B EHMT1 SMG9 ODAD3 ZMPSTE24 AMER1 ADAMTS10 PIGO DISP1 DNAAF3 DOCK3 QRICH1 ADAT3 POLR1C PHGDH SOX2 IGF2 NEK9 CRELD1 ERMARD TAB2 CEP57 LMNA BRCA1 TMEM270 WT1 SATB1 PRDM6 G6PC3 PDPN CXCR4 KYNU CHRM3 RAD51C RPS28 RPL10 GAS1 BUB3 STRA6 HIBCH RIT1 BMP2 ODAD2 FBLN5 RIPPLY2 RPL18 FOXC1 PEX1 SLC25A24 ESCO2 RAF1 FADD BCOR CHRNG ESS2 NOTCH2 IDS MESP2 ZIC3 GLI3 IFT43 SMC3 TCOF1 TELO2 SLX4 ABL1 SIX3 ALX1 TKT CHST3 CCNO TNFSF11 DRC1 ZFPM2 FOXC2 FGFR3 MGAT2 TGIF1 MASP1 FTO EED DLL1 EFEMP2 METTL27 TGFBR1 PIGL CLCN7 MFAP5 PSMD12 SPEF2 HS2ST1 SLC34A2 WDPCP UBE3B PUS7 SON LOX UMPS PLOD1 NDUFB11 SPECC1L SH3PXD2B CDC42 LUZP1 THSD1 RLIM ACTL6A BMPR2 RFC2 MAPK8IP3 ACVR2B RSPH1 ANK1 UBE2T TTC37 B3GLCT CRKL RAD51 NME8 ALG3 ALG12 HRAS ODAD4 GATA4 MAP1B TGFB3 ARID1A TGFBR2 ENPP1 PRKACB RNASEH2C CFAP53 NODAL RPL5 COX7B CLIP2 THOC6 FANCE KCNE5 WNT4 ABHD11 PKD1 NID1 PKD1L1 RNASEH2A PIGT DGCR2 KDM6A SMARCE1 COL3A1 FANCI DNAAF1 MBTPS2 STX1A GJA8 CCDC22 TRIP12 CREBBP SAMD9 FANCD2 TMEM260 SNRPB RPS19 HES7 DNMT3A SPAG1 SMARCA4 FANCL MED12 SMC1A NKAP MAPK1 DNAL1 SIX6 MMP14 GAS2L2 SKIV2L RPL11 SMAD2 ABCC9 DPYSL5 PKD2 BICC1 DNAAF6 DDX6 VPS33A UFD1 MED13 RNU4ATAC MRAS MAF FBN2 LDLR KCNN3 UNC45B LZTR1 MAT2A CCDC40 FGF8 GTF2IRD2 GP1BB PEX19 FMR1 SKI PLXND1 CHD4 DOCK6 VPS37D BRF1 OFD1 PCNT FKTN GPC6 MYH11 TRIP4 PTH1R BGN STK36 KAT6B KMT2E NR2F2 GTF2I B3GALT6 LFNG CFAP221 KCNJ8 ADA2 ALX3 MYCN RTL1 DDX59 ENG MMP23B MCTP2 C2CD3 UBR7 TGFB2 SPTBN1 ARF1 DNAJB13 P4HA2 ACTA2 ABCG5 WDR37 GRIA4 ADK PLAGL1 ODAD1 ACTL6B TBL2 GPC4 RFWD3 RSPH3 HEY2 EP300 NKX2-6 MEIS2 CWC27 NF1 ALDH18A1 OTUD5 HLA-B TRAIP FGFR2 CARS1 IGBP1 SLC35A2 TFAP2B PTPN23 RPS20 TSC1 PORCN NFIX COL1A2 TSC2 FOXF1 PPP1CB DNAH11 DVL3 COL18A1 DPM1 HPDL RPL26 HCCS SMARCC2 TGFBR3 PUF60 DNAJC30 SALL1 BCORL1 NEDD4L CDH2 KDM4B BCR ADH5 COL5A2 FKBP14 TPM3 CHD7 ADAR RPGR PRKCD AGO2 NEK8 TLL1 TALDO1 CCNQ SEC24C TPM2 PTPN11 RPL27 POLR1D TBX20 EIF2AK3 INTU JMJD1C DNAAF2 DYRK1A WASF1 TRAF7 ANGPTL6 TREX1 ASCC1 DNAAF4 RIN2 GJA1 FANCA RPL15 DHCR7 NOD2 SETD2 UBE4B TP63 MYH3 STIL TSFM DNAI1 NEK10 CNOT3 TCF20 AASS FGF10 TBC1D24 ARL6IP6 ABCD4 ABCC6 KAT8 RPL31 MMP21 CEP120 RBM10 ALG8 ZNF462 USP9X SLC29A3 ALG9 FANCF WAC USP18 ARVCF SRY MYOCD RREB1 TRMT1 WASHC5 TRAPPC4 RPS17 CDK8 FBXW11 MMP2 SOX11 SUFU MADD TENT5A MYT1L ARHGAP31 RBPJ EOGT GTF2IRD1 FOXE3 NTNG1 RSPO2 COA6 RPL35 APOB RPL35A PCSK9 PGM3 SLC12A2 SNX14 TSR2 ROBO4 RAC1 APC2 COQ4 DPF2 FLT4 ACSL4 SNX10 GANAB SEMA3E MLX DGCR8 ATP6V1B2 SSR4 SMARCB1 ZNF148 NSMCE2 WDR26 XRCC2 TBX2 DLL3 HDAC4 MYPN SHANK3 TMCO1 HLA-DRB1 PLCB3 RNASEH2B ECE1 ANKS6 SMARCA2 ALB TGDS COG6 FANCC BRAF PAH POLA1 SMARCD1 CHUK MED25 DNAAF11 CFAP298 HYDIN MAD2L2 PALS1 SOX4 KDELR2 RAI1 LIFR HGD WRN PCGF2 WDR35 MCIDAS DYNC2LI1 KCNH1 NCAPG2 LAT2 KCNAB2 CFAP300 FOXJ1 AGGF1 MLXIPL IL12B RPS7 ZMYND10 DGCR6 LIMK1 TRRAP SF3B4 BAZ1B DNAI2 ERCC6 KDM3B CASZ1 SNRPN ARX RSPH9 PRDM16 NTNG2 LTBP4 CCDC103 FLI1 BMPR1A DDX11 CD96 TCIRG1 MKKS FKBP6 DNAAF5 CLDN4 RASA2 HTT TRIP13 FANCG CTU2 CFC1 TNRC6B ABCG8 DTNA BRIP1 MAP3K7 SMG8 GABRD DLK1 PIK3R2 FANCM PALB2 HP_ABNORMAL_SYSTEMIC_BLOOD_PRESSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SYSTEMIC_BLOOD_PRESSURE PPARG EXT2 AGTR1 SDHD COL1A1 GTF2I NF1 NEUROG3 LEMD3 CFH ENG NTRK1 COL3A1 LRP6 HLA-DPA1 VHL SLC12A1 LMNA GNA11 BBS1 ARL6 TTR TJP2 MUC1 MT-CO2 CDKN2B FBN1 MT-TV SOX3 GNAS COL4A3 MT-TK GPR101 TP53 CYP11B2 PKHD1 SPG11 CBL SMAD4 STN1 ERCC8 EGFR HMBS TGFB2 HFE BANF1 TNFRSF11B RPGRIP1L ABCC6 TRIM28 ABCG5 AIP SDHB CHRNA3 SCN2B HGD MGP GNB3 DNAJB11 GBA COL4A4 NOTCH1 TBL2 ACVRL1 HEY2 PRKAG2 NPHP4 GIGYF2 MYLK TMEM70 GUCY1A1 DBH HLA-B SDHC FIG4 BBS9 MT-TL1 TSC1 CYP17A1 SAA1 CUL3 MPL TMEM67 ADA2 NFIX CDH23 TSC2 CHCHD2 SCAPER LARS2 RET TRAF3IP1 VAC14 ALMS1 STAR CEP290 MT-TW LRIG2 NOD2 GLIS3 YY1AP1 HLA-DRB1 TRPC6 APRT CACNA1D MAX OSGEP NCF1 CYB561 MRAP ATP7A FOXA2 THBD TGFBR3 MT-TE INF2 TET2 HPSE2 DNAJC30 PPOX GSN SCNN1A DNMT3A BMPR2 ITGA8 TREX1 WT1 MT-TC POU6F2 COL5A2 REN SRSF2 ABCD3 NR3C2 PKD2 TNFRSF11A BBIP1 FGFR2 BCL7B DCDC2 PIGA LMNB1 MDH2 BRCC3 SEC24C CPOX LZTFL1 IL12A SLC25A20 CYP11A1 COMT NR3C1 PDE4D FLT1 JMJD1C SLC2A10 MC4R AVPR2 MYH11 BSCL2 F5 CDKN1B MT-TF ANGPTL6 ELN SCNN1B EIF4H IRF5 INPP5E ITCH RUNX1 TRIP13 PROP1 SLC30A10 SHPK HESX1 CASR WNK4 FN1 FUZ LDLRAP1 ACTA2 FMO3 SLC37A4 TBX19 IDUA KIF1B NOS3 KCTD1 BUD23 SUGCT PDE8B APOA1 CEP19 VANGL1 CFHR3 KCNJ5 DGUOK HIRA BNC2 PSAP MT-TS1 CLDN3 DYRK1B SCNN1G COQ7 CD2AP MTRR TBX1 KCNMB1 CC2D2A LHX4 IQCB1 HSD11B2 MYMK INVS XYLT2 DLL4 MPI CACNA1H CCN2 DZIP1L SDCCAG8 GMPPA POU1F1 CFAP418 ALG9 VPS35 XYLT1 WDR19 EPAS1 ACE FH CLCNKB CDKN2C ARVCF GBE1 PRKAR1A GDF2 PAM16 SFTPC CDKN1A LRRK2 CLDN1 SLC25A11 CFI SDHAF2 CAV1 RREB1 G6PC1 ERCC6 TMEM270 BBS4 BBS2 TRIM32 CTLA4 ALX4 MMP2 ASXL1 CFHR1 ENPP1 NPHP1 ARHGAP31 KLHL3 ARMC5 RBPJ KCNJ1 RYR1 EOGT CLCN2 GTF2IRD1 STAT2 NFKB2 PHF21A FOXE3 KIT NPHP3 OFD1 BBS12 GCH1 APOB LEP CYP11B1 HEXB IFT27 LYZ LEPR MKS1 SH2B3 NOTCH2 IDS PCSK9 GLA TGFB3 KRT8 MTTP EIF4G1 HELLPAR TMEM127 CCDC28B GPR35 PDE3A BBS5 BBS7 JAK2 WNK1 METTL27 GANAB LIPA ADD1 MAFB MLX COQ2 MDM2 PLIN1 IFT74 NOTCH3 KYNU AGT NSMCE2 FARSB USP8 ACP5 TCF4 C3 EDA MEN1 MT-ND6 ACTG2 NFU1 MT-ND5 ATRX CBS LOX SLC12A3 MC2R DLST TNFSF15 ADAMTSL4 ECE1 ZMPSTE24 SMAD6 THSD1 MT-TQ SIM1 ALB CYP21A2 SPRY2 PTGIS DNAJC13 CD46 HLA-DPB1 RFC2 ELP1 SEMA4D PIGM MFAP5 AAAS HSD3B2 IFT172 MKKS FGA NNT SP110 SNCA MT-CO1 ABCA3 TGFBR2 HBB CFHR2 PRTN3 ABCB6 ARSA FMR1 WRN CLIP2 CYP3A5 SMARCAL1 TNPO3 LMX1B SERPING1 CALR ABHD11 PKD1 DCTN1 WDR35 PDE11A DAXX DHPS ERCC4 NDUFAF6 MYH7 TXNRD2 LAT2 STX1A NKX2-5 CORIN IL12RB1 WDPCP BTNL2 SERPINA6 ABCB4 SLC35A2 SFTPB STOX1 COL5A1 MLXIPL PRKACA IL12B TGFBR1 CCR6 GATA5 KRT18 STAT1 LIMK1 MMP14 BAZ1B HMGCL MT-ND1 CEP164 SMAD2 PRKG1 BICC1 MMEL1 GLI2 UFD1 COL4A5 OTX2 LDLR MST1 XPNPEP3 MAT2A CCND1 REST GTF2IRD2 H19 GP1BB TMEM237 MT-CYB PTPN22 B2M SDHA SMAD3 TTC8 POU3F4 FKBP6 POR POU2AF1 CLDN4 DIS3L2 DOCK6 VPS37D ACTN4 GJA1 ABCG8 CFB EDA2R MT-TS2 GPC3 SPIB ACAT1 BRCA2 DDC MT-CO3 MEF2A BBS10 HP_POSTEXERTIONAL_MALAISE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTEXERTIONAL_MALAISE PYGM COL9A1 SCN5A SVIL COL9A2 PYGL KCNQ1 NPPA COL9A3 COMP SLC2A9 SLC22A12 KCNE1 HP_CRYPTOZOOSPERMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CRYPTOZOOSPERMIA SYCP2 NR5A1 CATIP TEX15 TDRD9 HP_SCLEROSING_CHOLANGITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCLEROSING_CHOLANGITIS CIITA CD40LG DCDC2 ABCB4 RFXAP RFXANK RFX5 HP_ACROPARESTHESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACROPARESTHESIA SLC26A2 PMP22 COMP LMX1B GALC PRNP SH3TC2 HP_LINGUAL_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LINGUAL_DYSTONIA VPS13A ATP13A2 NGLY1 THAP1 GNAL HP_ANKYLOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANKYLOSIS PLCB4 ENPP1 PTDSS1 MUSK TNFRSF11B NOG ZMPSTE24 MMP2 MBTPS2 LMNA POR FGFR2 GNAI3 FGFR1 ADGRG6 GNAS GDF5 WNT7A PERP TRPV3 HP_ARTERIA_LUSORIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTERIA_LUSORIA PLD1 KNSTRN PIK3CD DDX6 NKX2-6 PLXND1 HP_BONE_MARROW_HYPERCELLULARITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BONE_MARROW_HYPERCELLULARITY PRKCD CXCR4 ZBTB16 NABP1 SLC7A7 SRC RASGRP1 FASLG JAK2 TET2 RPS14 CALR KIT MPL RARA TBL1XR1 FAS SRSF2 BCOR STAT5B CASP10 NUMA1 NPM1 STAT3 ASXL1 PML IRF2BP2 FIP1L1 PRKAR1A HP_CHRONIC_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_INFECTION TET2 HBB ZBTB16 NABP1 BCHE SF3B1 MAGT1 RPS14 RARA TBL1XR1 CARD9 BCOR PLEKHM1 STAT5B CLCN7 NUMA1 NPM1 STAT3 PML IRF2BP2 TCIRG1 FIP1L1 PRKAR1A HP_ACRAL_BLISTERING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACRAL_BLISTERING KRT5 FERMT1 ITGB4 COL7A1 COL17A1 SMARCAD1 PLEC HP_PARAPROTEINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARAPROTEINEMIA MYD88 LIG4 CCND1 CFHR2 CFHR3 HP_IMPAIRMENT_OF_ACTIVITIES_OF_DAILY_LIVING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRMENT_OF_ACTIVITIES_OF_DAILY_LIVING GBE1 PSAP CHRNA4 WASHC5 FLVCR1 TRPV4 RTN2 TTR DKK1 CDKN2B SIGMAR1 KCNT1 FAR1 NOP56 ZNF41 HEXB HLA-DQB1 AP5Z1 SLC9A7 HMBS ARSA AKT1 ZNF81 BAP1 FITM2 FRMPD4 ZFYVE26 ZEB2 NEXMIF KIF5A AGTR2 PTCHD1 ALDH18A1 UBAP1 SPTLC2 PIK3CA ARX SCN4A ALS2 FTSJ1 PAK3 MYF6 SPG11 CPT1C COL2A1 VCP ATL1 NOTCH3 AUH PDGFRB CHRNA2 PDGFB SCN9A TBP CACNA1G MORC2 NIPA1 GABRB3 SYP IGHMBP2 GABRG2 DLG3 PIGF FMR1 CACNA1H SLC2A1 ALMS1 ADNP KCNC3 LRIG2 ATL3 FARS2 CABP4 HSPD1 CHMP2B TRAF7 VANGL2 PDCD1 KCND3 VANGL1 HPSE2 SYNE1 HS6ST2 SALL1 SUFU CRKL CAPN1 BCR COG5 NOTCH2NLC EIF2AK2 DMD SLC12A3 ATP13A2 SQSTM1 MTMR14 LMNB1 ACSL4 ZNF711 SLC44A1 CNKSR2 HLA-DRB1 PANK2 FA2H SEC24C ABCD1 MID2 TYROBP CLCNKB COMT GBA2 ARHGEF6 JMJD1C SLC9A6 MYO1H BIN1 RAB39B RETREG1 CDKN1B SMARCB1 DSTYK CRH GDI1 CFAP43 RPS6KA3 ALG13 DDHD2 HTRA1 MECP2 SACS NEFL BNC2 USP27X KY PLP1 FUZ COQ2 NF2 TBCD SMARCE1 DEPDC5 TSPAN7 ATXN10 MAPK1 ATXN8OS HIRA SPG7 DACT1 STUB1 MED12 SMO TBX1 C19orf12 IQSEC2 SBF1 STEEP1 TERT TIMM50 GALC TP63 RYR1 PRDM8 DNM2 UFD1 TRIO IL1RAPL1 PEX11B CYP7B1 GALNT2 IFT57 MNX1 DPYSL5 UPF3B HACE1 ZC4H2 USP9X GP1BB SLC1A4 DNMT1 GJC2 JRK CLCN4 CDKN2C ARVCF ISL1 MEN1 CDKN1A SPAST CCL2 GABRA1 HCFC1 COPB1 ACSF3 RREB1 SLC20A2 SPTLC1 TBXT FUS CHRNB2 HP_ABNORMAL_OVARIAN_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_OVARIAN_MORPHOLOGY GNRH1 PPARG GATA4 GTF2I F7 GTF2IRD1 PTEN BBS1 ARL6 NR5A1 HS6ST1 DHH KISS1 NUP107 FOS BBS12 SOX3 LIPE LEP CYP11B1 IFT27 LEPR ANTXR2 MKS1 NPHP1 PROKR2 SOX9 CAVIN1 AGPAT2 INSR WDR11 BBS5 BBS7 DCAF17 WT1 METTL27 LMNA SRY TBL2 VAMP7 DMRT3 IFT74 KLLN PIK3CA FIGLA SDHC AKT1 CHD7 PHKG2 CYP19A1 LARS2 PPP1R12A TP63 BBS9 ATM TACR3 CYB5A SCAPER PAX6 ALMS1 CEP290 PRLR SLC37A4 GNAS NR0B1 WWOX PROK2 HNF1A NCF1 FGF17 PRKAR1A RFC2 MRPS22 FOXL2 DNAJC30 AKT2 DMRT1 IFT172 SETBP1 HARS2 USF3 BBIP1 BCL7B MKKS PTPN11 PSMC3IP PLIN1 FSHR LZTFL1 ZPR1 FLT1 CLIP2 POR ERAL1 ABHD11 MCM8 PHKA2 POLR3H GNRHR ELN ZFPM2 EIF4H SPRY4 LMNB2 LAT2 STX1A CORIN NTHL1 WDPCP BNC1 STK11 CBX2 FGF8 STOX1 C14orf39 ESR1 KISS1R FGFR1 MSH3 BUD23 SDHD SETD2 BSCL2 OFD1 CYP17A1 LIMK1 CLDN3 NSMF MMP14 PMM2 BAZ1B SDHB LHB AR ALG9 MAP3K1 SEC23B SDCCAG8 GTF2IRD2 SPIDR CAV1 CFAP418 DUSP6 BMP15 TTC8 DHX37 FKBP6 CLDN4 VPS37D MLXIPL MT-CYB MSX1 CIDEC TMEM270 BBS4 BBS2 TRIM32 TAC3 CEP19 MMP2 NDNF BBS10 HP_ABNORMAL_OVARIAN_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_OVARIAN_PHYSIOLOGY GNRH1 NR5A1 FSHR FOXL2 BMP15 GALK1 ANAPC1 LMNA FMR1 POLG2 RASGRP1 HS6ST1 ERAL1 SDCCAG8 MCM8 KISS1 NUP107 POLR3H GNRHR CASP10 FAS PROKR2 SPRY4 RIN2 EIF2B1 BNC1 FSHB AIP BMP4 POF1B FGF8 C14orf39 KISS1R WDR11 FGFR1 DCAF17 EIF2B5 MCM3AP TWNK B4GALNT1 NPHP4 NSMF CEP290 FIGLA IQCB1 CEP164 CHD7 LARS2 NOBOX XRCC2 INVS MEN1 TACR3 TTI2 NBN POLG CDH23 TRAF3IP1 PRLR ZMPSTE24 HSF2BP EIF2B4 HFM1 SPIDR DUSP6 PROK2 PRKCD WDR19 GALT EIF2B2 THOC6 DIAPH2 FGF17 PMM2 MRPS22 RCBTB1 AIRE BLM NPHP1 USP8 FASLG EIF2B3 TAC3 NPHP3 STAG3 ATM AARS2 PSMC3IP HP_ABNORMAL_ENDOCRINE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ENDOCRINE_PHYSIOLOGY CYP17A1 ABCC8 MRAP PROP1 LHX4 POR GH1 NFKB2 PPOX POU1F1 RBM28 LHX3 GHRHR HNF1A MC2R HESX1 TXNRD2 STAR KCNJ11 GNAS UCP2 NNT SP110 MOGS HP_ABNORMAL_RESPONSE_TO_ENDOCRINE_STIMULATION_TEST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RESPONSE_TO_ENDOCRINE_STIMULATION_TEST CYP17A1 RBM28 GHRHR MC2R MRAP TXNRD2 STAR POR LHX4 GH1 NFKB2 NNT HP_ABNORMAL_RESPONSE_TO_ACTH_STIMULATION_TEST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RESPONSE_TO_ACTH_STIMULATION_TEST CYP17A1 RBM28 NFKB2 TXNRD2 POR HP_ABNORMAL_RESPONSE_TO_INSULIN_TOLERANCE_TEST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RESPONSE_TO_INSULIN_TOLERANCE_TEST LHX4 GH1 GHRHR NNT MC2R MRAP STAR TXNRD2 HP_DECREASED_PREALBUMIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_PREALBUMIN_LEVEL FOXP3 CRLF1 NOS1 HLA-DQA1 HLA-DQB1 HP_ABNORMAL_HUMERUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HUMERUS_MORPHOLOGY GNPTAB RSPO2 ATP7A SRCAP FLNB TMEM251 COL2A1 KIAA0753 RNU4ATAC SLC26A2 HP_ABNORMAL_THYROID_STIMULATING_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THYROID_STIMULATING_HORMONE_LEVEL PMM2 NKX2-1 PAX8 THRB IGSF1 IYD PROP1 LHX4 PRKAR1A TG SLC5A5 SLC35A2 IRS4 SMARCAL1 TSHB DUOX2 TSHR TPO POU1F1 SLC16A2 CDH23 LHX3 DUOXA2 HESX1 ALMS1 PDGFRB CPE PSMB8 TBL1X SECISBP2 DCAF17 HP_DECREASED_THYROID_STIMULATING_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_THYROID_STIMULATING_HORMONE_LEVEL POU1F1 LHX3 CPE PROP1 HESX1 LHX4 TSHB TSHR HP_ABNORMAL_CIRCULATING_INHIBIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_INHIBIN_LEVEL NDN SNRPN MAGEL2 OCA2 XRCC2 POR HP_ABNORMAL_UTERUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_UTERUS_MORPHOLOGY CCNQ MLH1 SRC AURKA HOXA13 COL1A1 GATA3 BMPR1A STRA6 FLI1 PTEN HNF1B BRCA2 THOC6 NAB2 ESCO2 FANCE TP53 SLC6A17 WDR35 DMPK POLD1 NDP ALG9 FH FOXF1 AKT1 FGFR3 RPS6KA3 TNXB FANCI TLR2 DYNC2I1 PIK3CA COL3A1 PTPRJ RARB SLX4 SMAD3 NTHL1 IFT80 FANCA STK11 CCND1 CDH1 DHCR7 FREM2 DLC1 BUB1 COL5A1 MCC FANCL DYNC2I2 MSH6 MSH3 NRAS SDHD CTNNB1 SETBP1 TGFBR1 EP300 RFWD3 PDGFRL PMS2 DYNC2H1 AXIN2 ERCC4 BRAF KLLN HYLS1 FRAS1 FGF10 SF3B4 GREM1 SDHC GRIP1 LARS2 MSH2 SDHB PIGN XRCC2 FANCB PPP1R12A LRP2 SRY APC WT1 SALL1 BUB1B CHEK2 BAX FLCN CREBBP SEMA4A SEC23B STAT6 CDC73 SPECC1L RPS20 RIPK4 TGFBR2 PTPN12 MNX1 FGFR2 MLH3 COL4A6 INTU POLE DCC FANCF RAD54B PRKAR1A FANCC PHGDH COL4A5 AXIN1 UBE2T CDKN1B FANCG ITGA8 RAD51 COL5A2 PLA2G2A DACT1 BRCA1 USF3 BRIP1 FANCD2 CXCR4 FANCM PALB2 MAD2L2 RAD51C HP_TRICEPS_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRICEPS_WEAKNESS ADSS1 RAPSN FBXO38 CHRNB1 AK9 LRP4 CHRND AGRN CHRNE SCN4A POMT1 COL13A1 DOK7 DYSF CHRNA1 MYH7 MUSK MFN2 HP_RECURRENT_GASTROENTERITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_GASTROENTERITIS ADAT3 ADAM17 DCLRE1C MAN2B1 CD3G SLC35C1 FOXP3 IRF9 EGFR BLM SP110 VPS33A CD3E HP_THINNING_OF_DESCEMET_MEMBRANE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THINNING_OF_DESCEMET_MEMBRANE OVOL2 CYP1B1 FOXC1 PAX6 PITX2 FOXE3 HP_IMPAIRED_OROPHARYNGEAL_SWALLOW_RESPONSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_OROPHARYNGEAL_SWALLOW_RESPONSE PLAA SEPSECS NGLY1 TSEN34 BRAF TSEN54 TSEN2 TSEN15 TAF1 PMP22 GIPC1 HP_MULTIFOCAL_SEIZURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIFOCAL_SEIZURES SLC13A5 CDKL5 WARS2 PIGQ BRAT1 SMC1A CARS2 GALNT2 TANGO2 PIGS TBCK HP_POSTTERM_PREGNANCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTTERM_PREGNANCY NDN SNRPN MAGEL2 OCA2 DUOX2 HP_NUCHAL_RIGIDITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NUCHAL_RIGIDITY IRF3 CACNA1A SCN1A PRRT2 TLR3 TRAF3 UNC93B1 TICAM1 ATP1A2 TBK1 HP_ABNORMAL_CIRCULATING_PROGESTERONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_PROGESTERONE_LEVEL HSD3B2 CYP17A1 EIF2B3 CYP11B1 EIF2B4 EIF2B2 EIF2B5 FOXL2 EIF2B1 POR HP_INAPPROPRIATE_ANTIDIURETIC_HORMONE_SECRETION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INAPPROPRIATE_ANTIDIURETIC_HORMONE_SECRETION POU1F1 LHX3 PPOX SP110 PROP1 MOGS HESX1 LHX4 HP_ABNORMAL_RADIOACTIVE_IODINE_UPTAKE_TEST_RESULT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RADIOACTIVE_IODINE_UPTAKE_TEST_RESULT TSHR TRHR POU1F1 LHX3 DUOX2 DUOXA2 IYD PROP1 HESX1 LHX4 TG SLC5A5 TSHB TPO HP_INTERNALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERNALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS TTN LAMA2 ANO5 SQSTM1 ACTN2 RYR1 NOTCH2NLC HP_SWOLLEN_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SWOLLEN_LIP KNG1 HS3ST6 PLG MYOF ANGPT1 HP_PRODUCTIVE_COUGH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PRODUCTIVE_COUGH SPEF2 DNAI2 CCDC39 CFAP221 DNAH1 ODAD2 RSPH4A DNAAF6 DNAAF2 ODAD3 DNAH9 RSPH9 TBL1XR1 MCIDAS DNAH11 DNAAF3 STAT5B SCNN1G CCDC40 CCDC103 SCNN1B DNAAF4 FIP1L1 TTC12 PRKAR1A DNAAF1 GAS8 DNAJB13 ZBTB16 CFAP300 RSPH1 DNAAF5 NABP1 CCNO DRC1 CCDC65 FOXJ1 OFD1 SPAG1 RARA ZMYND10 CFTR DNAI1 NME8 NEK10 ODAD1 BCOR DNAH5 NUMA1 ODAD4 RPGR NPM1 RSPH3 STAT3 PML IRF2BP2 DNAAF11 CFAP298 LRRC56 SCNN1A HYDIN DNAL1 STK36 GAS2L2 HP_ABNORMAL_SUBCLAVIAN_ARTERY_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SUBCLAVIAN_ARTERY_MORPHOLOGY PLD1 KNSTRN PIK3CD EP300 DDX6 NKX2-6 CREBBP PLXND1 HP_DELIRIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELIRIUM MT-TE SLC25A13 ALAD PRDX1 FIG4 NAGS RYR1 DNMT1 MMACHC HP_ABNORMAL_BOWMAN_CAPSULE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BOWMAN_CAPSULE_MORPHOLOGY ZAP70 AVIL DAAM2 KIRREL1 EMP2 NOS1AP HP_SHOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHOCK TRDN SCNN1A SCNN1G RPL3L DSP ATRX DAXX SCNN1B NAA10 JUP HP_HYPOVOLEMIC_SHOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOVOLEMIC_SHOCK SCNN1A SCNN1G DSP SCNN1B JUP HP_FLUSHING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FLUSHING EPAS1 SDHA SLC1A3 SDHD MAX FH NPRL3 SDHC CACNA1A RUNX1 HNF4A SRSF2 ATP1A2 VHL TMEM127 TET2 SDHB HPGD ADGRE2 ATP1A3 SETD2 DNMT3A SLC25A11 MAOA APC2 SCN9A KIT ALDH2 KIF1B RET SDHAF2 RYR1 DLST NPRL2 NSD1 DEPDC5 CBL ASXL1 NF1 MDH2 HP_ABNORMAL_PERIFOLLICULAR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PERIFOLLICULAR_MORPHOLOGY KRT83 LRP1 KRT81 KRT86 HLA-DRA MBTPS2 HP_CUTANEOUS_ABSCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CUTANEOUS_ABSCESS PSENEN IL10RA PSEN1 CARMIL2 RIPK1 IKBKB LCP2 IL10RB BTK ELANE MNX1 UBE2A CYBC1 IL17RA TGFB1 MPEG1 IKZF3 PGM3 IL6R CTSC HP_LEFT_ATRIAL_ENLARGEMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEFT_ATRIAL_ENLARGEMENT FLNC SCN5A KIF20A MYL3 MYPN GYS1 TNNI3 TLL1 FHOD3 TNNT2 SCN1B HP_INTERSTITIAL_CARDIAC_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTERSTITIAL_CARDIAC_FIBROSIS FLNC KIF20A MYPN TNNI3 RPL3L TNNT2 HP_ABNORMAL_CARDIOMYOCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CARDIOMYOCYTE_MORPHOLOGY CACNA1S ACTN2 DSP RYR1 RPL3L GYG1 PNPLA2 HP_VEGETATIVE_STATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VEGETATIVE_STATE ISCA2 PSAP NHLRC1 ABCD1 ARSA PLA2G6 EPM2A HP_ECCHYMOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECCHYMOSIS ITGA2B COL1A1 USP8 GP1BA F2 F13A1 AIP STX11 GGCX CALR UNC13D MPL GP6 IFNG TBL1XR1 GP1BB TET2 GBA STAT5B GFI1B FIP1L1 PRKAR1A PRF1 COL3A1 ZBTB16 STXBP2 P2RY12 NABP1 ITGB3 TERC JAK2 TBXA2R CD109 TERT F13B COL5A1 SBDS RARA COL5A2 BCOR ITGA2 NUMA1 NPM1 STAT3 PML IRF2BP2 CHST14 HP_MACULAR_PURPURA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACULAR_PURPURA ITGA2B CASP10 GATA1 COL1A1 USP8 GP1BA F2 LCP2 GP1BB F13A1 AIP STX11 FYB1 WIPF1 GGCX WAS CALR GNA14 CLCN7 UNC13D MPL GP6 IFNG TBL1XR1 TET2 GBA STAT5B OCLN GP9 GFI1B PEPD FIP1L1 PRKAR1A PRF1 ETHE1 COL3A1 ZBTB16 USP18 STXBP2 P2RY12 NABP1 ITGB3 SAMD9 TERC JAK2 FERMT3 TBXA2R CD109 TERT ETV6 F13B COL5A1 SBDS RARA APOE HOXA11 COL5A2 RAB27A NEU1 BCOR ITGA2 NUMA1 NPM1 FCGR2C STAT3 PML IRF2BP2 TREX1 CHST14 HP_METAPHYSEAL_STRIATIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAPHYSEAL_STRIATIONS KIF22 AMER1 MTAP ADA RECQL4 WDR26 ANAPC1 PISD TONSL PORCN HP_INTESTINAL_PERFORATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTESTINAL_PERFORATION B2M TYMP C1R POLG GATA6 HP_ANKLE_WEAKNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANKLE_WEAKNESS RAPSN LDB3 TTN CHRNB1 AK9 LRP4 CHRND MATR3 BSCL2 AGRN CHRNE SCN4A COL13A1 DOK7 CHRNA1 MUSK HP_ABNORMAL_CELL_PROLIFERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CELL_PROLIFERATION CD3E LCP2 WIPF1 RFXAP RASGRP1 MRTFA CTPS1 KNSTRN IL7R RAC2 IL2RG CD247 RAG1 PNP RFX5 CD27 CIITA MGAT2 JAK3 NSMCE3 CD3D RAG2 SYK ZAP70 TGFB1 PIK3CD PGM3 IL2RA EXTL3 RFXANK HP_ABNORMAL_T_CELL_PROLIFERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_T_CELL_PROLIFERATION MRTFA CTPS1 TGFB1 NSMCE3 PGM3 RAG2 LCP2 WIPF1 RAG1 CD3E RASGRP1 HP_DECREASED_LYMPHOCYTE_PROLIFERATION_IN_RESPONSE_TO_MITOGEN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_LYMPHOCYTE_PROLIFERATION_IN_RESPONSE_TO_MITOGEN CD27 CIITA CD3E MGAT2 JAK3 CD3D RAG2 RFXAP SYK ZAP70 RASGRP1 KNSTRN PIK3CD IL7R RAC2 IL2RG IL2RA CD247 RAG1 EXTL3 RFXANK PNP RFX5 HP_DECREASED_LYMPHOCYTE_PROLIFERATION_IN_RESPONSE_TO_ANTI_CD3 http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_LYMPHOCYTE_PROLIFERATION_IN_RESPONSE_TO_ANTI_CD3 KNSTRN PIK3CD JAK3 RAC2 IL2RA HP_ABNORMAL_PROPORTION_OF_CD4_POSITIVE_T_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PROPORTION_OF_CD4_POSITIVE_T_CELLS PRKCD ATP6AP2 LCP2 RFXAP MYC RASGRP1 KNSTRN BLM IL7R IL2RG MAGT1 EPG5 FASLG SMARCAL1 RFX5 LAT ITK CIITA NSMCE3 IKBKB FAS HLA-DPB1 CASP10 UNC119 LCK PIK3CD LEP WAS IVNS1ABP CD4 PGM3 ATM LEPR EXTL3 RFXANK OTULIN HP_ABNORMAL_PROPORTION_OF_CD8_POSITIVE_T_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PROPORTION_OF_CD8_POSITIVE_T_CELLS PRKCD NSMCE3 CD8A IKBKB FAS WIPF1 CD3G ZAP70 CASP10 WAS BLM IL7R IL2RG RASGRP1 FASLG PGM3 EXTL3 HP_ABNORMAL_CD4_CD8_RATIO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CD4_CD8_RATIO CIITA AP3B1 RFXAP RASGRP1 CASP8 CTPS1 UNC119 ZAP70 WDR1 MAGT1 PGM3 IL2RA RFXANK RFX5 HP_ABNORMAL_PROPORTION_OF_DOUBLE_NEGATIVE_ALPHA_BETA_REGULATORY_T_CELL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PROPORTION_OF_DOUBLE_NEGATIVE_ALPHA_BETA_REGULATORY_T_CELL PRKCD CASP10 FOXP3 FAS RASGRP1 FASLG HP_REDUCED_ANTIGEN_SPECIFIC_T_CELL_PROLIFERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_ANTIGEN_SPECIFIC_T_CELL_PROLIFERATION CTPS1 NSMCE3 PGM3 RAG2 LCP2 RAG1 HP_IMPAIRED_ANTIGEN_SPECIFIC_RESPONSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_ANTIGEN_SPECIFIC_RESPONSE ICOS PRKCD TNFRSF13B PMM2 RIPK1 COG6 CD19 LCP2 CD247 CR2 SLC35C1 CTPS1 KNSTRN ZAP70 IRF2BP2 RAC2 RASGRP1 MAGT1 FASLG TNFRSF13C CARD11 RAG1 PIK3CD CARMIL2 NSMCE3 LRBA CD70 RAG2 CD81 FAS CASP10 CASP8 ADA WAS ALG12 PGM3 IL2RA HP_INCREASED_PROPORTION_OF_CD25_MAST_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_PROPORTION_OF_CD25_MAST_CELLS LYST TET2 CBL RUNX1 SRSF2 ASXL1 HP_ABNORMAL_CHROMOSOME_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CHROMOSOME_MORPHOLOGY PARN ZCCHC8 RTEL1 MDM4 TERT HP_ABNORMAL_NASAL_MUCUS_SECRETION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NASAL_MUCUS_SECRETION CCDC40 SREBF1 CCDC39 ODAD1 LRRC56 DNAH1 SDHD SCN9A HP_INCREASED_BODY_MASS_INDEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_BODY_MASS_INDEX FLT1 THOC2 THRA STOX1 CORIN HP_ABNORMAL_CIRCULATING_OSTEOCALCIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_OSTEOCALCIN_LEVEL COL2A1 AVP FAM20A FN1 SLC34A3 HP_ABNORMAL_SPEECH_PROSODY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SPEECH_PROSODY MT-ND3 MT-ND2 DNAJC13 EIF4G1 CWF19L1 MAPT MT-TL1 MT-ND5 FOXP2 LRRK2 MT-ND1 MT-TK SNCA MT-TV FBXO7 MT-ND4 SRPX2 GRIN2A GBA MT-ATP6 MT-TW MT-ND6 GIGYF2 VPS35 HP_MONOTONIC_SPEECH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MONOTONIC_SPEECH FBXO7 LRRK2 DNAJC13 GBA EIF4G1 GIGYF2 CWF19L1 SNCA VPS35 HP_PREGNANCY_EXPOSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREGNANCY_EXPOSURE MME GDF1 TP63 IRF6 SERPINC1 MED13L NECTIN1 MSX1 HP_EROSION_OF_ORAL_MUCOSA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EROSION_OF_ORAL_MUCOSA KRT14 COL7A1 MMP1 LAMB3 KRT5 LAMC2 LAMA3 DSG3 HP_SOFT_TISSUE_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SOFT_TISSUE_NEOPLASM COL4A5 PDGFRB APC COL4A6 NOTCH3 NAB2 STAT6 HP_IMPAIRMENT_IN_PERSONALITY_FUNCTIONING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRMENT_IN_PERSONALITY_FUNCTIONING SARDH PSEN1 SDHD CCDC32 TOMM40 NTRK1 PPARGC1A CIZ1 CACNA1A TAF15 GATAD2B VPS16 PTPN22 MT-ND6 NSUN2 ADGRV1 GRIK2 CDKN2B MIR17HG SLC9A6 MAMLD1 KANSL1 KISS1 AIMP1 GNAS NDP TP53 ASH1L DNMT1 DLL1 TDGF1 WDFY3 WASHC4 HLA-DQB1 CDK19 SLC13A5 FGF14 PIK3CA UBE4A MSTO1 VCP MT-TS2 ATXN10 STX16 SIX3 GABRG2 ATP2A2 NEXMIF MATR3 TBK1 TSHB CEP78 POLG2 CNKSR2 MSH2 FOXH1 ANXA11 FGF8 KCNMA1 BCS1L TUBB3 GABRB2 PDGFRB NTRK2 TWNK PINK1 SNRPN TRAK1 SDHC HUWE1 ABCA7 TBP USP7 GLI2 TACR3 SLC19A3 TREM2 SLC1A2 SEMA4A POLG PRRT2 PAK3 ALDH5A1 PHIP TACO1 CABP4 PQBP1 PROK2 CHMP2B UBQLN2 MAX NCF1 FGF17 FA2H TMEM106B TGIF1 KIF15 PPOX DPH1 B3GALNT2 MSX1 RRM2B MT-TW ATP6V1A CLCNKA KCNJ2 BCL7B PTCH1 PLA2G6 DISP1 LMNB1 UBA5 FTSJ1 CEP85L MDH2 JARID2 YWHAG CPOX DNM1 NTNG2 SHH SLC35C1 COMT UBE3A TK2 XPR1 NR3C1 PPP2R2B ZMIZ1 ATRX PGAP1 DMPK PRNP ATXN8OS CDKN1B YY1 PET100 ELN SCN1A NODAL HEPHL1 EIF4H SPRY4 DRD2 PDE10A NDUFA12 UNC13A NDUFS2 NDUFS3 APP FTL NONO SVBP CYFIP2 HNRNPA1 CASR FUZ TANC2 MED27 BPTF IDUA FGFR1 KIF1B BRD4 AARS1 BUD23 HNMT SCN3A NDUFA13 VANGL1 HIRA PSAP NHLRC1 CLDN3 HNRNPH2 SLC18A2 LRRK2 UCHL1 EEF1A2 TBX1 FIG4 PON2 SNCA IGF1R HIVEP2 SLC12A2 STXBP1 EHMT1 WWOX SMPD1 C9orf72 DPYSL5 KNL1 ERBB4 MECP2 SETD5 DUSP6 DOCK3 MT-TF ADAT3 FH GRIN2D CDKN2C PPP3CA CDKN1A ADCY5 NCDN SPAST SCN9A PRKAR1A CDH23 TMEM270 SLC20A2 SLC6A19 SATB1 CRADD ECHS1 NF1 ABCB4 SYNJ1 MAPT FUS GAS1 MLH1 DEAF1 NAGS HS6ST1 GABBR2 KMT2A MEN1 KCNT1 ADH1C WFS1 CLCN4 PROKR2 ADSL AKT1 PGK1 STX1B TARDBP BAP1 VAPB STAG2 EIF4G1 TMEM127 PRKCG GABRD ZC3H14 GCSH MBD5 RET CTSF MYO7A MED23 ARID2 METTL27 MAPK1 CBS COQ2 WDR62 CELF2 NOTCH3 GBA CHRNA2 TTC19 GLA CLIP1 CACNA1G FOXG1 HS2ST1 HCN1 METTL23 ZBTB20 PUS7 PRSS12 C19orf12 HMBS GABRB3 PAH MT-CO1 CDKL5 RPS20 KCTD17 NFIX PIGS SLC39A4 SLC2A1 IQSEC2 TOR1A TRAF7 ATP7B RLIM MMP1 ACTL6A DNAJC13 ARV1 RFC2 MAPK8IP3 GABRA1 ATP13A2 NKX2-1 TAF1 USP8 ATP1A3 FGF13 KCNA2 GALT CRKL FOXP1 ARSG TET3 RSRC1 AR PSMD12 NEK1 XK PER2 NECTIN1 WAC PDHA1 AARS2 PDGFB MAN1B1 MT-TL1 FMR1 KCNB1 KMT2E CLIP2 SNCAIP MAOA DGUOK ABHD11 EPM2A EDC3 DCTN1 SCN8A PDE11A NSD1 UQCRC1 PCDH15 RELN NTNG1 PTCHD1 MSH6 MT-CO2 NDUFAF6 STX1A LARP7 GABRA5 EIF2B1 TRIP12 CREBBP CLN6 PRKN AMACR NDUFA10 MTPAP CACNA1B NDUFV2 ZIC2 DNMT3A ARSA LAS1L DEPDC5 MED12 EPCAM SOX5 SETD2 NDUFV1 DHDDS MT-CO3 KDM5B B4GALNT1 ALG14 DDX6 ALG9 SUGCT UFD1 PMS1 MED13 DNAJC6 ATXN2 MBOAT7 SYNGAP1 SMC3 FGF12 GLT8D1 AP2S1 SMC1A GTF2IRD2 GP1BB CLTRN TRHR SDHA DYRK1A ARMC5 RNF125 VHL CHD8 DLAT COL7A1 PRPH VPS37D NUS1 LGI1 PHGDH SZT2 GRIN2A SCN1B GM2A USH1G EIF2B3 NDUFAF2 STEEP1 NEMF GNRH1 SURF1 GTF2I HDAC8 TBC1D2B GNA11 SLC45A1 GALC PTS ACSL4 GPR101 DDB1 SQSTM1 NR1H4 SPG11 SARS1 CISD2 SPTBN1 USH2A GRM7 TP63 TGFBR2 MAN2B1 P4HA2 PMS2 UFSP2 NDST1 SDHB AIP GRIA4 MLH3 WDR11 PPM1D CLTC COQ5 ACTL6B TBL2 TRAPPC9 SGCE EP300 GIGYF2 ATP8B1 GABRA2 ANG ATP1A2 SATB2 CRBN CARS1 PTPN23 TSC1 HSPG2 UBR7 TSC2 PDZD7 CACNA1H VPS13C CLCNKB PPP1CB ADNP LIPT1 MED12L GLUD2 PDCD1 RAI1 HPDL DNAJC30 IL1RAPL1 GSN UBTF BCORL1 GRN CDH2 KDM4B SRCAP TREX1 NDUFS8 BCR VPS13A OCRL CHD2 AGO2 SETD1A FRRS1L RNF168 RAD21 SEC24C SCN2A DNA2 PSAT1 JMJD1C PURA TLK2 PDE2A WASF1 TMEM240 CRH NOVA2 LINS1 BSND OCA2 GLI3 PRKAR1B PER3 CDON COX15 FMO3 PARS2 CNOT3 MAGEL2 TCF20 NSMF NDUFS7 SMO PPT1 PFN1 KAT8 CLN5 SLC7A6OS TBCK ABCB11 DNAJC5 PON3 PSEN2 SLC2A3 FAN1 OPTN VPS35 PANK2 EPAS1 SLC1A3 JRK FOXRED1 MT-TQ ARVCF NFASC ATP10A AFF2 SLC25A11 SDHAF2 RREB1 SPG21 TRMT1 NDUFAF5 TRAPPC4 CC2D1A TAC3 FBXW11 PHF21A AFG3L2 CLRN1 MADD CHRNB2 RORA CUX2 MYT1L THOC2 JPH3 CHRNA4 BMPR1A HTT MT-TN MT-TS1 CHRNA7 GTF2IRD1 C12orf4 SPEN CHCHD10 TYROBP SLC6A17 KRAS FLII IRF6 CFAP410 GCH1 LEPR MED25 KPTN RIMS2 GPR35 APC2 TBC1D7 PODXL SPART EMC10 NDUFA2 EIF2B5 NECAP1 TECR GLDC NIPBL MAPK10 MT-TH MTFMT IQSEC1 LMAN2L CHD7 TCF4 PON1 TMCO1 SETD1B USH1C HLA-DRB1 NFIB ST3GAL3 DLST GLE1 ALAD HTRA2 ALDH4A1 DCPS EIF2B2 SEMA4D SUFU TTC5 FBXO31 PARK7 SLC25A4 CYP27A1 MT-ND4 WHRN MT-TL2 EZR PALS1 HSD17B10 AP3B2 AMT PCDH19 ESPN SMARCB1 ELP1 GNRHR CLN3 FMN2 NDUFA9 LAT2 SORL1 ALKBH8 NF2 SMARCE1 KISS1R MT-ND1 MLXIPL PRKACA RPS6KA3 FLT4 TNIK MT-ND5 HLA-B CCNF HARS1 LIMK1 STUB1 BCL11B BAZ1B CEP152 NDUFA4 TERT PIGC NR4A2 NDUFS1 COASY SLC6A4 SOD1 HTR2A SPECC1L MST1 FLI1 EIF2B4 EPHA4 CSF1R DAO CIB2 HLA-DQA1 FKBP6 NEFH CLDN4 SRPX2 GDAP2 NDUFS4 DALRD3 TNRC6B TUSC3 DDC HP_LOW_SELF_ESTEEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_SELF_ESTEEM GABRG2 JRK TP63 IRF6 CACNA1H FMO3 SLC2A1 GABRB3 GABRA1 NECTIN1 MSX1 HP_STATUS_EPILEPTICUS_WITHOUT_PROMINENT_MOTOR_SYMPTOMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STATUS_EPILEPTICUS_WITHOUT_PROMINENT_MOTOR_SYMPTOMS GABRG2 STX1B SCN1A ADGRV1 ODC1 CDKN2C STXBP1 GABRA1 SCN2A SCN9A ADORA2A MEN1 CDKN1A GRIN2A SCN1B GABRD CDKN2B CDKN1B HCN1 CHD2 PCDH19 HP_ABNORMAL_MITRAL_VALVE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MITRAL_VALVE_PHYSIOLOGY CRELD1 ADAMTSL2 PIK3R2 KIF20A COL1A1 NF1 GTF2I PDSS1 GNPTAB UBAC2 FBN1 IL23R GTF2IRD1 ALPK3 NOTCH1 RPL5 HCCS HADHA CLIP2 ABHD11 DZIP1 GPR101 TPM1 MEFV CCR1 MCTP2 APOB ELN FAR1 KLRC4 COL1A2 AKT3 NOTCH2 HEPHL1 FHOD3 RPS6KA3 RAF1 C4A MYH6 EIF4H GJA1 FBLN5 PCSK9 LAT2 ANKRD11 FAS STX1A MYPN MAN2B1 NKX2-5 SMAD3 ABCC6 SMAD4 AGA HLA-B ABCG5 NDUFB11 DSE FHL1 B3GALT6 ALDH18A1 LDLRAP1 PRDM16 GATA6 SCO2 AIP DNMT3A COL5A1 SDHD MLXIPL TBX20 HADHB IDUA BUD23 SOX5 NKAP TLL1 GATA4 FLNA ADAMTS10 METTL27 FLNC MAPK1 TBL2 TLR4 LIMK1 CLDN3 MAP3K7 LMNA MTX2 BAZ1B GLA ZNF148 IRX5 TNNI3 IL10 GBA XYLT2 IL12A PYROXD1 VPS33A LTBP2 DCHS1 FBN2 LDLR RSPRY1 NDUFS2 PPP1CB CTCF ZMPSTE24 PLD1 STAT4 GTF2IRD2 IL12A-AS1 NDUFAF3 TNNT2 POLG SKI NR2F2 XYLT1 LOX NCF1 CCND2 RFC2 FKBP6 CLIC2 CLDN4 DNAJC30 CHST3 VPS37D CITED2 NDUFB8 SURF1 ERAP1 COX7B CBL LZTR1 CRYAB ABCG8 COL5A2 ACTC1 RPL3L TMEM270 DTNA UBE2A BCL7B SGO1 HAAO G6PC3 PKD1 BGN TGFB3 RIT1 HP_ABNORMAL_CIRCULATING_T4_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_T4_LEVEL TRHR MAGEL2 OCA2 IYD PROP1 LHX4 SNRPN TG SLC5A5 TSHB DUOX2 TSHR TPO NDN POU1F1 LHX3 DUOXA2 HESX1 ALMS1 HP_ABNORMAL_THYROID_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THYROID_HORMONE_LEVEL TRHR MAGEL2 OCA2 IYD PROP1 LHX4 SNRPN TG SLC5A5 IRS4 THRB TSHB DUOX2 TSHR TPO NDN POU1F1 LHX3 DUOXA2 MADD HESX1 ALMS1 USP9X CPE TBL1X THRA HP_SUBRETINAL_FLUID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBRETINAL_FLUID TSPAN12 CTNNB1 NDP ZNF408 LRP5 CFH FZD4 BEST1 EFEMP1 CFI HP_SUBRETINAL_DEPOSITS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBRETINAL_DEPOSITS CSPP1 C1QTNF5 KIAA0586 CYP4V2 TIMP3 HP_INCREASED_THETA_FREQUENCY_ACTIVITY_IN_EEG http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_THETA_FREQUENCY_ACTIVITY_IN_EEG CHRNA2 RPL10 KCNQ3 DEPDC5 CHRNA4 CABP4 CRH SETD1B KCNT1 KCNQ2 CHRNB2 HP_ABNORMAL_DERMOEPIDERMAL_JUNCTION_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DERMOEPIDERMAL_JUNCTION_MORPHOLOGY PLEC ZAP70 ITGA6 LAMB3 LAMC2 COL17A1 LAMA3 ITGB4 DSP JUP HP_CARDIAC_CONDUCTION_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIAC_CONDUCTION_ABNORMALITY JUP GPC4 SLC25A20 MT-TS1 RNASEH1 MT-TL1 MT-ND5 SCN1B SCN5A SELENON CACNA2D1 MT-ND6 CASQ2 KCNJ5 HCN4 SEMA3A RMRP AGXT KCNJ18 DMPK LDB3 GPD1L SDHAF1 NPPA MT-ATP6 CPT2 ACADVL RAF1 SYNE1 CALM1 CACNB2 LMNA SCN10A MTM1 GPX4 MYH6 MYH7 MT-CO2 KCNJ8 KCNH2 MT-ND3 RRM2B PHYH ATP6V1E1 BANF1 MT-TS2 CREBBP GNAI2 BTNL2 TRPM4 ACTN2 MT-ND1 DES GNB2 MT-TK GATA6 TMEM43 TBX5 SCO2 KCNQ1 NKX2-5 MT-ATP8 RANGRF TTN TBX20 MT-ND4 POMT2 RYR2 TLL1 SCNN1A CTNNA3 SCN3B GYG1 MT-TH EP300 PTPN11 DYSF MMP14 GLA GABRA3 MT-ND2 ATP6V1A MT-CO3 PIGU KCND3 GNB5 ATP1A2 EMD CACNA1C PEX7 BRAF MYOZ2 SCN2B MT-CO1 PKP2 NDUFS2 MT-TW FHL1 PPP1CB CALM3 GPC3 SDHB KCNJ2 AKAP9 PLEC CDH2 TTR NDUFAF3 MT-TF HLA-DRB1 TNNC1 CACNA1D SLC1A3 CACNA1S LRP1 SYNE2 CACNA1A GATA4 MT-TQ SDHA SLMAP CITED2 PRKAG2 ATP1A3 NDUFB8 SURF1 MT-TV GJA1 MT-CYB SCN4B KCNE3 BVES TRDN MYBPC3 ACTC1 ABCC9 SGO1 GJA5 MMP2 TNNI3K ACTA1 KCNE5 SDHD LEMD2 HP_ABNORMAL_QT_INTERVAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_QT_INTERVAL SCN5A GABRA3 KCNE1 GPC4 ALG10B SCN4B TECRL KCNJ2 CALM2 CLCNKB ALPK3 CACNA2D1 KCNJ5 CALM3 KCNJ18 CDKN2B CDC73 SLC12A3 GNAS CDKN1B SVIL RYR1 ACADVL GPC3 SCN10A CACNA1C ANK2 CALM1 KCNQ1 TANGO2 CACNB2 KCNH2 CACNA1S AKAP9 CAV3 CDKN2C GMPPB STX16 MEN1 SNTA1 DPAGT1 CDKN1A NOS1AP DNAJC19 HADH SRY KCNE2 BPTF CAVIN1 PHOX2B KCNA5 MECP2 TBX5 PSMD12 TNNI3K TRDN TRPM4 HP_ABNORMAL_AORTIC_VALVE_CUSP_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_AORTIC_VALVE_CUSP_MORPHOLOGY NXN CRELD1 TGFBR2 TAF2 RAI1 GTF2I B3GAT3 ARHGAP31 CCNQ GTF2IRD1 NOTCH1 CLIP2 FBN1 SNIP1 SLC25A24 FOXE3 KIF3B MYH11 BCOR ABHD11 KANSL1 MCTP2 ELN NADSYN1 FOXF1 PPP2R5D TNXB EIF4H MYH7 TGFB2 SPTBN1 PACS1 LAT2 TGFB3 STX1A SMC3 GJA8 NKX2-5 SMAD3 CREBBP CHST3 ABCC9 ZEB2 B3GALT6 ACTA2 ROBO4 RAC1 BBS2 MLXIPL TGFBR1 GATA6 BUD23 GATA5 EDNRA AGO2 GATA4 FLNA METTL27 TBL2 HEY2 LIMK1 EP300 CLDN3 MMP14 MYLK BAZ1B SKIV2L SMAD2 WT1 NOTCH3 PRKG1 ACTB SMAD6 LOX FBN2 MAT2A ZNF462 GTF2IRD2 YY1AP1 HNRNPK GJA5 RPL26 NR2F2 IFT122 NCF1 WAC RFC2 FDFT1 FKBP6 CAPN15 MFAP5 PUF60 CLDN4 DNAJC30 TTC37 VPS37D SRY MYOCD CBL NAA10 TAB2 OGT TMEM270 BCL7B SGO1 MAP3K7 MMP2 SMAD4 HP_SUICIDAL_IDEATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUICIDAL_IDEATION CHRNA2 DEPDC5 FIG4 CHRNA4 CRH KCNT1 DCTN1 SLC2A3 HTT CABP4 CYP27A1 CEP85L CHRNB2 SPTBN1 HP_ABNORMAL_PR_INTERVAL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PR_INTERVAL SCN2B GABRA3 MT-CYB DMPK CACNA1S GPD1L KCNA5 CLCNKB SLC12A3 GAA PRKAG2 TLL1 GNB5 TRPM4 NKX2-5 KCNJ18 HP_ABNORMALITY_OF_FUNDUS_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FUNDUS_PIGMENTATION MIR140 BLOC1S6 APC SLC25A15 MUTYH AIPL1 KIF7 SOX10 CAPN5 EPG5 CFH GUCY2D GGCX TSC1 LRAT ARL6 CFI RBP3 COL4A1 IFNG EDNRB CRX PDE6G GUCA1A PRPF8 RDH5 CLRN1 POU3F4 GPR143 MTTP PRPH2 CNGA1 TSC2 SLC45A2 TYR RHO ROM1 EFEMP1 CACNA1F MC1R PAX3 MITF CFAP418 RLBP1 OCA2 HP_GEOGRAPHIC_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GEOGRAPHIC_ATROPHY CFHR3 APOE HMCN1 IMPDH1 CFHR1 NMNAT1 HP_IMPAIRED_TANDEM_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_TANDEM_GAIT PALS1 JARID2 MYT1L KMT2E CCDC32 HUWE1 KAT8 DPYSL5 HS2ST1 BPTF SLC35C1 ZMIZ1 PUS7 DDX6 PTPN23 MED13 UBR7 WASF1 NTNG1 PLOD1 FMR1 NTNG2 WDFY3 DOCK3 ATP6AP2 RLIM ACTL6A MAPK8IP3 TRIP12 HPDL SLC12A2 SVBP TANC2 HTT MED27 BCORL1 GRIA4 KDM4B MTRFR TNRC6B PSMD12 TRMT1 CNOT3 TRAPPC4 COQ5 ACTL6B KCNMA1 SATB1 FBXW11 AGO2 TCF20 MADD HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_PHYSIOLOGY COL1A1 NF1 GTF2I PDSS1 UBAC2 FBN1 PRKAR1A GTF2IRD1 MYCN SLC25A24 ATP6AP1 GPR101 MEFV COA6 CCR1 MCTP2 APOB FAR1 KLRC4 COL1A2 FHOD3 RPS6KA3 RAF1 C4A MYH6 MYH7 PCSK9 ANKRD11 FAS MAN2B1 SMAD3 ABCC6 AGA ABCG5 NDUFB11 ALDH18A1 WDR37 PRDM16 AIP SDHD TBX20 HADHB IDUA GATA4 CSGALNACT1 FLNA ADAMTS10 METTL27 FLNC MAPK1 TBL2 TLR4 MAP3K7 LMNA GLA ZNF148 IRX5 PYROXD1 ATRX LTBP2 DCHS1 RSPRY1 PPP1CB CTCF ZMPSTE24 PLD1 STAT4 DVL3 IL12A-AS1 NDUFAF3 TNNT2 NONO LOX NCF1 RFC2 CLIC2 GBA DNAJC30 CITED2 CDH2 ERAP1 CRYAB COL5A2 ACTC1 RPL3L UBE2A BCL7B SGO1 TLL1 TGFB3 CRELD1 ADAMTSL2 PIK3R2 KIF20A GNPTAB IL23R ALPK3 NOTCH1 RPL5 HCCS HADHA CLIP2 ABHD11 DZIP1 TPM1 DAXX ELN AKT3 NOTCH2 HEPHL1 EIF4H GJA1 FBLN5 NCAPG2 LAT2 SCN5A ATP6V1E1 STX1A MYPN NKX2-5 NEK1 SMAD4 HLA-B DSE DLL4 FHL1 B3GALT6 LDLRAP1 GATA6 SCO2 RAD21 DNMT3A COL5A1 MLXIPL BUD23 SOX5 NKAP LIMK1 CLDN3 MTX2 BAZ1B MYSM1 TAB2 TNNI3 RNF2 IL10 XYLT2 IL12A VPS33A ALG9 FBN2 LDLR NDUFS2 GTF2IRD2 ARL6 POLG SKI NR2F2 XYLT1 RPS19 CCND2 FKBP6 CLDN4 CHST3 VPS37D NDUFB8 SURF1 COX7B CBL LZTR1 COX6B1 ABCG8 TMEM270 DTNA HAAO G6PC3 PKD1 BGN RIT1 HP_ABNORMAL_TRICUSPID_VALVE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TRICUSPID_VALVE_PHYSIOLOGY ADAMTSL2 KIF20A MYSM1 TAB2 TNNI3 RNF2 PRKAR1A ALPK3 HCCS VPS33A HADHA ALG9 MYCN SLC25A24 ATRX COL1A2 ATP6AP1 PPP1CB COA6 DAXX PLD1 DVL3 HEPHL1 ARL6 MYH6 TNNT2 SDHD MYH7 NONO NCAPG2 RPS19 SCN5A ATP6V1E1 MYPN GATA4 TBX20 NEK1 CLIC2 NDUFB11 DLL4 FBN1 CITED2 CHST3 WDR37 GATA6 RAD21 DNMT3A NKX2-5 CDH2 COX7B HADHB COX6B1 ACTC1 RPL3L TLL1 CSGALNACT1 FLNA FLNC MTX2 HP_ABNORMAL_AORTIC_VALVE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_AORTIC_VALVE_PHYSIOLOGY TENT5A NR2F2 GTF2I PDSS1 BUB3 ARHGAP31 BUB1B UBAC2 GTF2IRD1 LMNA EBP FBN1 FOXE3 SCN1B HCN4 NPHP3 MEFV COA6 CCR1 APOB KLRC4 IDUA COL1A2 C4A TGFB2 SPTBN1 PCSK9 BCOR TGFB3 ARF1 FAS MAN2B1 KRAS GNPTG ZEB2 ABCG5 ROBO4 RRAS2 B4GALT7 GATA4 NOTCH1 FLNA ADAMTS10 EFEMP2 METTL27 TBL2 TLR4 HEY2 EP300 MYLK GLB1 ACTB TMTC3 LOX LTBP2 FOXF1 ZMPSTE24 SMAD6 STAT4 ELN ANKS6 IL12A-AS1 NCF1 RFC2 CLIC2 MFAP5 PUF60 DNAJC30 TTC37 DPH1 NEDD4L CRKL ERAP1 BCR BCL7B NEK8 MAP1B FGFR1 FBLN5 SMAD4 CRELD1 CCNQ C12orf57 ADAMTSL2 KDELR2 TGFBR2 GNPTAB BUB1 IL23R SLC2A10 CLIP2 YY1AP1 SNIP1 MYH11 DYRK1A ABHD11 PCGF2 SHOC2 VWF CYP24A1 NOTCH2 IFIH1 EIF4H ALDH18A1 LAT2 SLC35A1 MBTPS2 ATP6V1E1 STX1A NKX2-5 SON CREBBP GJA1 HLA-B LDLRAP1 ACTA2 MLXIPL TGFBR1 GATA6 BUD23 GATA5 CCDC22 ARFGEF2 MAPK1 DDX58 LIMK1 CLDN3 WASHC5 BAZ1B SKIV2L SMAD2 TAB2 NKX2-6 IL10 PRKG1 GBA IL12A EHMT1 CEP57 LDLR AMER1 MAT2A FLI1 GTF2IRD2 D2HGDH SMAD3 FKBP6 PLXND1 CLDN4 CHST3 VPS37D TRIP13 CBL ERMARD ABCG8 TMEM270 WT1 HAAO HP_ABNORMAL_HEART_VALVE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HEART_VALVE_PHYSIOLOGY WNT4 SARDH COL1A1 NR2F2 NF1 GTF2I RTEL1 BUB1B KRAS FBN1 LMNA MYCN MAP2K2 DSP HCN4 RAB23 KANSL1 MUC5B GPR101 RAF1 CCR1 MCTP2 FAR1 IDUA COL1A2 IGFBP7 FHOD3 RPS6KA3 MYH6 MYH7 TGFB2 SPTBN1 BRAF DNAL1 ARF1 ANKRD11 FAS MAN2B1 MAP2K1 SMAD3 ABCC6 AGA ZEB2 ABCG5 ZNF469 ALDH18A1 WDR37 PRDM16 AIP ELN ADK MGP TBX20 GATA4 CSGALNACT1 NOTCH1 ADAMTS10 TBL2 GPC4 RPL27 HEY2 EP300 MYLK OTUD5 ACTB PYROXD1 TMTC3 RSPRY1 FOXF1 PPP1CB ZNF699 CTCF GPC3 PLD1 STAT4 DVL3 TNNT2 LOX NCF1 FLNA CLIC2 PUF60 GBA DNAJC30 DPH1 NRXN1 NEDD4L CDH2 ERAP1 BCR COL5A2 STN1 UBE2A BCL7B SGO1 PTPN11 NEK8 TLL1 FGFR1 SMAD4 CRELD1 CCNQ GDF1 BUB1 IL23R ALPK3 SLC2A10 DCHS1 HADHA YY1AP1 PGAP1 MYH11 DYRK1A DZIP1 TPM1 TRAF7 SHOC2 AKT3 VWF NOTCH2 HEPHL1 EIF4H SLC35A1 HRAS SCN5A SOS1 NKX2-5 GJA1 NEK1 FHL1 LDLRAP1 FBLN5 ACTA2 GATA6 RAD21 BPTF BUD23 CCDC22 TERT ARFGEF2 KAT6A CLDN3 CREBBP NPHP3 MYSM1 SFTPA2 NKX2-6 SOS2 IL10 XYLT2 TAB2 EHMT1 TBCK AMER1 SLC29A3 ARL6 D2HGDH SKI GATA5 XYLT1 PIK3R2 CCND2 WAC CITED2 B3GLCT MAP3K7 COX7B CBL COX6B1 ERMARD CEP57 LZTR1 WASHC5 TMEM270 WT1 HLA-B HAAO G6PC3 TENT5A PDSS1 BUB3 ARHGAP31 STRA6 UBAC2 BMP2 PRKAR1A GTF2IRD1 EBP SLC25A24 FOXE3 SCN1B CCDC32 ATP6AP1 MEFV COA6 APOB KLRC4 FBXW11 C4A PCSK9 BCOR ZIC3 NEK9 TGFB3 SMC3 ADA GNPTG NDUFB11 ROBO4 SDHD RRAS2 HADHB RNF135 B4GALT7 EFEMP2 METTL27 FLNC MAPK1 TLR4 CHD7 GLA ZNF148 GLB1 CDC42 IRX5 TBX2 SFTPA1 CUL3 ATRX LTBP2 ZMPSTE24 SMAD6 ANKS6 IL12A-AS1 NDUFAF3 ABCA3 NONO RFC2 MFAP5 TTC37 CRKL CRYAB ACTC1 ATP11A RPL3L PSMD12 INVS PARN MAP1B LEMD2 C12orf57 ADAMTSL2 KIF20A KDELR2 TGFBR2 ACAD8 GNPTAB SEMA3E RPL5 HCCS CLIP2 SNIP1 DPP9 ABHD11 NRAS PCGF2 DAXX KDM6A CYP24A1 IFIH1 NCAPG2 LAT2 MBTPS2 ATP6V1E1 STX1A MYPN SON MRAS DSE DLL4 B3GALT6 SCO2 DNMT3A COL5A1 MLXIPL TGFBR1 FLT4 SOX5 AGO2 NKAP DDX58 LIMK1 MTX2 PRDM5 BAZ1B SKIV2L SMAD2 TNNI3 RNF2 POLR3A PRKG1 IL12A VPS33A ALG9 ENPP1 FBN2 LDLR NDUFS2 MAT2A FLI1 GTF2IRD2 POLG TERC RPS19 FKBP6 PLXND1 FAM13A CLDN4 CHST3 VPS37D TRIP13 NDUFB8 SURF1 ABCG8 DSG1 FKTN DTNA SFTPC PKD1 BGN FAT4 RIT1 HP_ABNORMAL_PULMONARY_VALVE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PULMONARY_VALVE_PHYSIOLOGY WNT4 SARDH ACAD8 NF1 GTF2I GNPTAB ARHGAP31 RTEL1 GDF1 STRA6 BMP2 KRAS FBLN5 GTF2IRD1 SHOC2 GATA6 SEMA3E DCHS1 TTC37 CLIP2 MAP2K2 DSP DPP9 PGAP1 ABHD11 NRAS RAB23 KANSL1 CCDC32 MUC5B KIF20A TRAF7 RAF1 KDM6A ELN FBXW11 FOXF1 CYP24A1 IGFBP7 EIF4H NOTCH2 BCOR ZIC3 BRAF LAT2 DNAL1 HRAS NEK9 STX1A SMC3 GATA4 SOS1 MAP2K1 SMAD3 CREBBP ADA MRAS ZEB2 PTPN11 ZNF469 SCO2 RAD21 BPTF ADK MLXIPL MGP RNF135 FLT4 FBN1 B4GALT7 BUD23 CCDC22 COL1A1 TERT AGO2 KAT6A ADAMTS10 METTL27 TBL2 GPC4 NOTCH1 RPL27 LIMK1 EP300 PPP1CB CLDN3 WASHC5 CHD7 PRDM5 BAZ1B ALDH18A1 OTUD5 CDC42 TAB2 SFTPA2 TBX2 NKX2-6 COL1A2 SOS2 POLR3A SFTPA1 CUL3 TBCK LTBP2 ENPP1 NDUFS2 ZNF699 GPC3 GTF2IRD2 SLC29A3 ANKS6 NDUFAF3 ABCA3 TERC NCF1 WAC RFC2 FKBP6 PLXND1 FAM13A CLDN4 DNAJC30 CHST3 B3GLCT VPS37D NDUFB8 NRXN1 SURF1 LZTR1 DSG1 FKTN ATP11A EFEMP2 TMEM270 PSMD12 INVS STN1 SFTPC BCL7B SGO1 PARN MAP3K7 NEK8 G6PC3 FAT4 RIT1 LEMD2 HP_ABNORMAL_HEART_SOUND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HEART_SOUND CRELD1 NR2F2 CWC27 GDF1 BICRA NKX2-5 BMPR2 GATA4 TBX20 GNPTAB ABCG5 PRKAR1A CITED2 LDLRAP1 TMEM260 MED13L GATA6 GJA1 IDS LDLR GATA5 ABCG8 ACTC1 TLL1 SMARCA2 NOTCH1 APOB SMAD6 RBBP8 FBN1 GAA DDX6 MYH6 MYH7 SDHD SPTBN1 PCSK9 HP_SYSTOLIC_HEART_MURMUR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYSTOLIC_HEART_MURMUR GJA1 TBX20 ACTC1 GATA4 TLL1 CITED2 TMEM260 GATA6 MYH6 NKX2-5 HP_ABNORMAL_STOOL_COMPOSITION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_STOOL_COMPOSITION EPCAM CPOX ALAD SLC9A3 GATA1 UROD UROS HP_OPPORTUNISTIC_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPPORTUNISTIC_INFECTION PIK3CD RAG2 DCLRE1C IKBKG ELANE IL21R ZAP70 ADA IL12RB1 IL7R TGFB1 MPEG1 MBL2 IL2RG PTPRC RAG1 JAK3 PNP HP_SEVERE_VIRAL_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_VIRAL_INFECTION CD27 TPP2 PGM3 MCM10 CD70 XIAP ADORA2A CTPS1 TGFB1 BLM SH2D1A RAC2 TLR7 MAGT1 FCGR3A IL2RA LAT IKBKG HP_SEVERE_CYTOMEGALOVIRUS_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_CYTOMEGALOVIRUS_INFECTION TPP2 MCM10 MAGT1 LAT IKBKG HP_COMPENSATORY_HEAD_POSTURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COMPENSATORY_HEAD_POSTURE CABP4 GPR179 LRIT3 RHO TRPM1 GRM6 NYX PDE6B GNB3 GNAT1 TUBB3 GRK1 KIF21A CACNA1F CACNA2D4 SLC24A1 SAG HP_RECURRENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT BCKDHA ADORA2A DBT SMC1A BCKDHB HP_ABNORMAL_BASOPHIL_COUNT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BASOPHIL_COUNT BACH2 ASXL1 SRSF2 TET2 KIT HP_ABNORMAL_ORAL_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ORAL_PHYSIOLOGY SIM1 MRE11 LRP6 SATB1 PPARGC1A SLC12A5 POU3F3 ATP6AP2 PDE10A ATP7B TAF15 TPM3 EIF2S3 PTPN22 RTL1 AP4E1 SPEN PTS CHMP2B CFAP410 SRPX2 GRIN2A WNT10A ZNF41 IRF6 GNAI3 F13A1 AP4S1 EDARADD FGF10 PPP2R5D ALS2 TP63 SLC9A7 PAX9 FIP1L1 SNRPN IDS SPTBN1 MYL2 ZNF81 TARDBP MSX1 VAPB P4HA2 STXBP1 FRMPD4 KANSL1 NABP1 NEXMIF AGTR2 PTCHD1 MATR3 HPDL TBK1 ARX QDPR GABRG2 FGFR3 RARA MECP2 SLC16A2 SPART FTSJ1 PAK3 SHMT2 BCOR LBR ANXA11 TH TUBB3 SCNN1A SCN9A SH3TC2 HACD1 LMNB2 ANG FOXG1 ACTA1 SATB2 GPT2 ZC4H2 PON1 SLC12A2 GABBR2 PYROXD1 SYP HLA-DRB1 DLG3 MAGEL2 TBL1XR1 GLE1 POLR3A FGFR2 MEG3 ADNP WAS FARS2 AP4M1 SCNN1B CLDN10 SMARCA2 MAT1A UBQLN2 TPM2 CERT1 GABRA1 NOD2 KIF23 FUS KIF15 ZBTB11 FOXP2 IKZF1 GSN GCH1 NRXN1 GFM2 CFTR VPS13A BCORL1 GNS NEK1 DMD NUMA1 UBE3A TASP1 ZEB2 PML IRF2BP2 SERPINE1 SELENBP1 ACSL4 ZNF711 CNKSR2 ITGA7 MID2 COLQ NTNG2 SCN2A TGFA F5 ARHGEF6 ATRX HLA-B SLC9A6 SQSTM1 FGFR1 SCN1B SERPING1 RAB39B PCGF2 GDI1 ATXN2 C9orf72 SCN1A SCNN1G RPS6KA3 ALG13 ADGRG1 OCA2 CHCHD10 IRF5 TREM2 UNC13A DLAT F8 FIG4 USP27X ZBTB16 NONO TANGO2 F2 HERC1 HNRNPA1 TSPOAP1 DEAF1 ADSS1 PYGM VCP MTRFR SUMO1 CCR6 ATP1A3 TSPAN7 NPM1 CCNF FOXP1 MED12 HNRNPH2 PLA2G6 PFN1 NECTIN1 DCTN1 SETD5 IQSEC2 CLDN11 PON2 AP4B1 STEEP1 POLR3B MED27 PRPS1 AXIN2 CCN2 SOD1 IL1RAPL1 PI4KA LAMA2 UPF3B PON3 STAT5B GRIN1 SELENON GLT8D1 OPTN ERBB4 USP9X EPHA4 PCDH19 EXTL3 PRKAR1A DAO CLCN4 VAC14 WNT10B NEFH PRPH ATP10A PMP22 FBLN1 F13B HCFC1 MAP3K20 CAV1 LAMB2 STRADA TUBB2B EDA STAT3 DLK1 F10 CHRM3 HP_DECREASED_CIRCULATING_PARATHYROID_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_PARATHYROID_HORMONE_LEVEL CASR AIRE PTH GCM2 TBX1 SLC34A3 HP_ABNORMAL_WAIST_TO_HIP_RATIO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_WAIST_TO_HIP_RATIO IL6 HNF1A ADRB3 ENPP1 AKT2 HNF4A NEUROD1 HNF1B PPARG ABCC8 SLC2A2 IRS2 MAPK8IP1 GCK PDX1 IRS1 KCNJ11 RETN LIPC PTPN1 PPP1R3A HMGA1 CARTPT IGF2BP2 UCP3 ADRB2 MTNR1B TCF7L2 AGRP GPD2 WFS1 SDC3 PAX4 GHRL NR0B2 SLC30A8 POMC HP_ABNORMAL_REFLEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_REFLEX PSEN1 PRDM8 SLC25A15 KIAA0586 PIGA MECR DCTN1 PDYN CACNA1A ADGRG1 FLI1 TPM3 EIF2S3 EGR2 NEFL PNPLA6 ABHD5 NDP DNAJC6 GRID2 RTEL1 MPZ CTNNA2 ERCC8 AMPD2 SLC39A14 SLC25A19 PHC1 CENPJ METTL5 IER3IP1 FXR1 SPG11 PYCR2 NKX6-2 ATXN10 PUS3 STX16 ZEB2 MT-ND1 PC KIF5A GJB2 PEX12 ZSWIM6 VLDLR TSHB ATXN7 TREX1 POU1F1 MT-ND4 BCS1L GABRB2 DOK7 ATL1 IDH3A SAG ANO10 NTRK2 TWNK SNRPN MT-ND2 NGLY1 HACD1 TRAK1 TOPORS PEX6 GUCA1B SYP ALDH18A1 TRAPPC14 PEX5 KBTBD13 DLG3 NAGA IFT88 MSTN ABCB7 TACO1 ERCC2 MYOT HSPD1 PQBP1 CA8 PLEKHG5 ZFR DYSF NCF1 TRAF3 ELOVL4 MT-TL1 WASHC5 RARS2 PPOX HNRNPK PMP22 RFT1 RRM2B ERAP1 RNASEH2C UGDH CCT5 TPI1 TBK1 GJB1 LMNB1 B4GAT1 UBA5 CNKSR2 DNM1 NEFH SNAP29 IYD TK2 PPP2R2B ARL3 NEU1 PLA2G6 PGAP1 KDM5C FBXO7 PRNP PGAP2 CAPN1 AARS1 TRMT5 PET100 GBA ELN SACS CHP1 EYA1 RPS6KA3 PDE6G TANGO2 EIF4H COL4A1 SETX NDUFA12 TMEM106B SUCLG1 HPRT1 NEB NDUFS3 SRPX2 KIF1A COQ9 FTL CRPPA VPS37A CYFIP2 NUP62 LYST CHRNA1 DNM1L GMPPB UNC93B1 GRIN2A DHX38 SCN3A COX8A RAI1 CHRND FBN1 OPA1 DHX16 PSAP TPP1 CDK5RAP2 B4GALNT1 TFG GRM1 CLDN3 TCAP SPTBN4 CLDN11 IL10 TBX4 TBCD EXOSC3 LARGE1 MYPN WWOX SMG9 ERLIN2 C9orf72 SDHB CASK SLC25A4 USP9X FKBP10 CFL2 QRICH1 FHL1 ARHGEF2 TUB KY PPP3CA AP4M1 MTTP BSCL2 TOE1 FGF13 GBA2 TRIM2 ATP6V1A RBP3 TIMM50 TMEM270 RXYLT1 EXOC8 HK1 ADCY6 RAD51C FUS RNASEH1 SLC25A46 CA4 ATP1A3 SPTBN2 RTN2 KCNJ18 MT-TE SIGMAR1 MME C4A NAGLU GAN MYL2 ZNF81 GLYCTK HADHA MECP2 SLX4 LHX4 TBCK FLVCR1 HNRNPDL TARDBP PRKCG LINS1 ISCA2 PAK3 GM2A MAG RPGR RNF113A METTL27 PRPS1 TH LAMA2 ALS2 WDR62 LMOD3 LDB3 NALCN SLC6A9 PRX REEP1 SH3TC2 TTC19 PPP1R15B HCN1 ZC4H2 NIPA1 SASS6 DCAF8 PAH SCYL1 IGHMBP2 TUBA8 TPM2 PLOD1 XPA HSPB8 PITX3 PLEC NT5C2 POLR3A HSPB3 SYNE2 FKRP MTMR14 SQSTM1 RFC2 ALG1 TTN PIGW ATXN2 SCAPER AAAS ATP13A2 UBE2T MTRFR KCNA2 DDB2 PEX10 NOTCH2NLC PEX3 XK PDE8B ACTA1 HADHB FAM126A COG7 STUB1 MARS1 SCN1A NDUFS2 SLC35C1 PRUNE1 KCNB1 ARHGEF6 CLIP2 MRPS34 RMRP POLG DKC1 BSND GJC2 DSTYK COX10 SNAP25 DCC MFSD2A DDHD2 DST HGSNAT IFT140 COQ2 CACNA1B PRKRA SUCLA2 FANCL ARSA ACO2 TCTN2 SDHA ATXN8OS BEST1 SLC6A19 ERCC6 MGME1 SURF1 DHDDS VWA3B POLR3B TGM6 KNL1 TBC1D23 ALG9 IL1RAPL1 SYNGAP1 FGF12 VWA1 SOD1 MT-ND6 HSPG2 STAC3 PPIL1 PDGFB GFPT1 BRAT1 POU3F4 TREM2 GNAQ RETREG1 CIT NUS1 AP3B2 MAP3K20 NARS1 SZT2 FKTN FANCD2 AP4S1 TRIP4 CCDC88A ATL3 CLCNKA GFER ATXN3 KLC2 MCCC1 SEPSECS PROM1 MRE11 EXOSC1 MPV17 GTF2I CNTNAP2 MED25 PLP1 LITAF ADAR TTR AP4E1 PTS UROC1 SYNJ1 CCR1 CLPB COL13A1 IDH3B SPTBN1 RYR1 RAB18 FRMPD4 DARS1 PTCHD1 ZFYVE27 MFN2 ERLIN1 SCN4A SLC16A2 CLTC SIK1 CPT1A RFWD3 RGR SLC6A5 GABRA3 PRPF31 GABRA2 CACNA1E CRX ATP1A2 PEX16 PYROXD1 ERGIC1 GLRB GARS1 LHX3 FMR1 PIGN ZFYVE26 MKS1 STAT4 LIPT1 SLC19A3 CACNA1G REEP6 HUWE1 DPM1 SMN1 CLP1 CHRNE SYNE1 DNAJC30 TMEM67 CARS2 SYT2 C19orf12 KCNQ3 HDAC4 VPS13A NARS2 ACTL6B FBLN5 PNPT1 DMD APOB RARS1 LRSAM1 ATXN1 SLC2A1 VCP COLQ CWF19L1 PNPLA2 SLC5A5 PSAT1 OPA3 NUBPL RAB39B GPAA1 EGF PMPCA POMT2 TMEM240 MAPT DENND5A ASCC1 ASNS CSF1R ALG13 INPP5E SLC35A1 CRB1 FANCA DPAGT1 ST3GAL3 TSPOAP1 ADSS1 RAPSN RUSC2 CEP63 PIEZO2 GAMT SCN9A LGI4 IQSEC2 CNTNAP1 POMT1 TRAPPC11 KCND3 MATR3 UBE3A CYP2U1 PLAA GTF2E2 PEX2 KATNB1 AIFM1 LMNA PRPF6 ACOX1 USP8 FANCF ERCC1 FOXRED1 SLC52A2 RDH12 ARX TBC1D20 TBC1D24 BAG3 KCNK9 NFASC RUBCN RP2 SMN2 NCAPD3 POMGNT1 NOP56 NDUFAF5 SLC5A7 TSEN34 AFG3L2 PRPH NEK1 HTT ITPR1 GTF2IRD1 ASAH1 DKK1 ZNHIT3 CHCHD10 DYM FLII UBAP1 MEFV ASPA ATP1A1 TRMT10A AP5Z1 LAMB2 RAB3GAP1 POMK MT-ND3 PGM3 PRPF3 BICD2 LRP4 GABRG2 XRCC1 SPART INF2 PIGY NDUFA2 DOCK3 SHMT2 GLDC NR2E3 CPT1C MTFMT XRCC2 PROP1 TTBK2 GALC SLC25A12 NDUFA1 SOX10 MAGEL2 VAPB PCLO IL12A-AS1 ARL6IP1 UFC1 NONO CACNA1S APTX FANCC DNM2 MSL3 AGBL5 COQ8A DHH FIG4 SLC7A14 MAD2L2 SLC44A1 TAF2 SEMA6B MORC2 AK9 LIFR L1CAM AMT MED17 SAMD9L PITRM1 MTPAP SNIP1 BIN1 AP1S2 COPB2 AR SPR DPM2 MCCC2 CD59 NDUFA9 MAN2B1 ALG3 HSPB1 LAT2 PHYH IBA57 ENTPD1 MINPP1 RLIM FLRT1 NRL MSTO1 GLRX5 DEGS1 WNK1 TIMM8A TUBGCP2 KLHL41 SLC25A22 TSPAN7 CDHR1 ALG11 LIMK1 KCNA4 UBA1 NDUFA4 RNF2 ST3GAL5 NDUFS1 SLC52A3 PIGT CLRN1 VAMP1 DUOXA2 MFF OTOG SLC33A1 ATN1 OFD1 OCLN COL12A1 GDAP2 DDHD1 FANCG HCFC1 MT-TV DGUOK GFM1 BRIP1 GMPPA FANCM EMD PALB2 PCARE PDHB SLC18A3 GAA NDE1 GJB6 TAF13 GNAS HARS1 DNMT1 SPTAN1 PAX7 PPP2R5D FARS2 TERT CDK19 SLC13A5 DAG1 FAS QARS1 IFRD1 DES GPHN TRPV4 MYO9A MDH2 POLG2 TECPR2 JAM3 TUBB3 KIAA1549 TDP1 ERCC4 PDGFRB PINK1 KIF1B GPT2 IMPG2 SLC1A2 PIGP ALDH5A1 MAT1A CHMP2B COG4 WARS1 SPATA7 GLRA1 TSEN2 CNTN1 PEX19 SELENOI COG5 SLC25A1 MTM1 RFC1 BCL7B GDAP1 ATM ACSL4 ZNF711 ROM1 SPEG MID2 CCDC88C PPP1R21 SCYL2 ACER3 PIGB COX5A MT-ND5 IL23R MYH14 ATP6AP2 SELENON GNE ATRX BRCA2 CDC40 MPLKIP HSD17B4 TLR3 WDR81 NSD1 CHAT USH2A KIF1C LPIN1 GLUL KIDINS220 TULP1 USP27X JAG1 PDXK FUZ PARN MT-TK CNGA1 FSCN2 TARS1 BUD23 NDUFA13 VANGL1 OSTM1 VRK1 PSMB8 MED12 SLC39A8 SLC18A2 LRRK2 UCHL1 EEF1A2 PMM2 CC2D2A SLC12A6 DNAJB2 FANCB STXBP1 KIZ RLBP1 PEX11B ADPRS PLEKHG4 CAMTA1 AUTS2 PRRT2 MAB21L1 FLNC EXTL3 ATP8A2 PIK3R5 CLCN4 GLE1 CFAP418 GRIN2D TRMU ADCY5 SPAST ELP2 TPO ALG2 BRCA1 SLC20A2 STIM1 PLCB1 ECHS1 APOE NDUFS4 SIM1 SAR1B IREB2 HIBCH UBAC2 PIGL RNF170 ARL2BP DEAF1 ACD PEX1 MT-ATP6 NDUFS7 PEX26 GRM7 ZNF41 ATAD1 EMC1 HEXB ADSL KDM1A FBXO38 EYS MT-TT SLC46A1 PCYT2 GOSR2 MARS2 PRCD MYORG GCSH FTSJ1 CTSF FASTKD2 MYF6 TLR4 AUH CELF2 PEX14 CEP152 ERCC3 TRAPPC6B DPM3 DUOX2 ALG6 ASPM MT-TW HESX1 KCNC3 RP9 MUSK KCNJ6 DPYD ARV1 KCNQ2 ELP1 XPC TAF1 NDUFAF4 RAD51 GBE1 PNKP PDHA1 TRIM37 FA2H VPS13D PAX1 GCLC FANCE ABHD11 ABCD1 LRAT TICAM1 DARS2 IFT172 ORAI1 FDX2 FANCI MYH7 NDUFAF6 CEP135 CTDP1 DLAT STX1A PRPF8 GABRA5 HLA-B KCNA1 PRKN NDUFA10 PEX7 AHI1 NDUFV2 MT-ATP8 CHRNB1 WARS2 SNCA NDUFV1 JPH1 SBF1 STEEP1 COA7 SCN8A IL12A VPS33A SNRNP200 VPS13C PI4KA YWHAG NEK2 AHR GTF2IRD2 CLTRN RP1L1 DYNC1H1 ERBB3 DNAJC3 VPS37D PODXL BCAT2 JPH3 TSEN54 NDUFAF3 MCOLN1 NDUFAF2 RMND1 SNX14 SPG7 CAV1 MYL1 IARS2 PDK3 KRAS ANKLE2 FAR1 GCH1 GEMIN4 SLC9A7 COX6A1 RPGRIP1L OCRL SUMF1 GIPC1 COQ5 TBL2 MCPH1 MEGF10 ABCA1 CARS1 PRPH2 SLC12A2 KCNK4 CYP7B1 CHCHD2 WDR4 POMGNT2 BEAN1 ACADM CRAT CNGB1 ARHGEF18 SEMA4A GRN NDUFS8 REEP2 KIF14 GTF2H5 CNNM2 SEPTIN9 DYNC1I2 ISCA1 ITGA7 PET117 SIL1 PRICKLE1 MYO1H ERCC5 ARL6 TSHR COX20 DBH FGD4 SDHAF1 GDI1 TTPA SLC29A3 OCA2 GRIA3 RAB7A MAK GJA1 SMPD1 SEC31A COX15 JAM2 PARS2 KLHL7 AASS B3GALNT2 TSPYL1 AP4B1 HPDL CLN5 MICOS13 SCO2 TTC8 CREBBP CRYAB RPE65 UPF3B SLC2A3 GFM2 MRPS25 PANK2 SLC1A3 PRPF4 TSEN15 VAC14 GNB4 SPTLC1 TINF2 FAM161A INPP5K SPG21 EP300 TMX2 AGRN SDHD GAD1 PDSS1 WDR73 MT-TN EXOSC9 PCDH12 PDE6A KLRC4 PIGG PIGV ABCC8 AGTR2 DNASE1L3 TMEM43 IMPDH1 CDK5 NECAP1 LBR MCM3AP LYRM7 PDE6B ATP6V1B2 RHO CDK6 CLCNKB SLC25A21 CHMP1A TMEM63A ABAT SHANK3 BBS2 KLHL9 PKDCC SBF2 KARS1 HRAS HTRA2 ALDH4A1 TYMP FXN ZNF408 RP1 UQCRQ NRAS CERKL PRSS12 HINT1 PARK7 PTF1A GTPBP2 CYP27A1 MT-TL2 PGAP3 PEX13 ABCA4 STIL NDRG1 ALG14 TYROBP ARSI SLC1A4 CNP PLPBP HTRA1 TG TRIM32 MLXIPL ZNF513 TUBB2B ATP5MK NSUN2 BAZ1B ABHD12 HMGCL AMPD1 UGP2 PIGO COASY MERTK EEF2 KCNT1 MT-TS1 ATP7A FKBP6 CLDN4 GRIN1 PTRH2 HIKESHI DALRD3 COX4I1 MBOAT7 ACAT1 GEMIN5 DDC LRP12 HP_LYMPHANGIECTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LYMPHANGIECTASIS FOXF1 HRAS ADAMTS3 SOX18 PIEZO1 FAT4 MPI CCBE1 HP_ABNORMAL_LIBIDO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LIBIDO GNRH1 CHD7 FGF17 CDKN2C MEN1 FSHB TACR3 CDKN1A HTT AIP HS6ST1 FGF8 KISS1R WDR11 CDKN2B ABCD1 FGFR1 KISS1 CDH23 CDKN1B GNRHR SLC2A3 TAC3 DUSP6 NSMF PROKR2 PROK2 SPRY4 HP_ISOMERISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ISOMERISM CFC1 ZIC3 FANCB GDF1 NODAL HP_INEFFECTIVE_ESOPHAGEAL_PERISTALSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INEFFECTIVE_ESOPHAGEAL_PERISTALSIS ACTB MYH11 GUCY1A1 GLA GMPPA TRAPPC11 PHOX2B AAAS COL4A5 STAT3 FLVCR1 SAMD9 IVNS1ABP COL4A6 MYO1H IARS2 HP_ABNORMAL_HEART_RATE_VARIABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HEART_RATE_VARIABILITY DLL1 GLI2 NODAL FOXH1 PHOX2B STAG2 SHH TDGF1 CDON SMC1A PTCH1 GALC ZIC2 GAS1 FGF8 SIX3 MADD TGIF1 DISP1 FGFR1 PSAP HP_BLOODSTREAM_INFECTIOUS_AGENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLOODSTREAM_INFECTIOUS_AGENT CD27 ITK CTPS1 PRKCD TPP2 IKZF3 PGM3 MAGT1 TET2 ELANE LAT HP_ABNORMAL_LIVER_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LIVER_PHYSIOLOGY SC5D ATP8B1 PGM1 CYP7B1 AKR1D1 ABCB11 SLC25A13 ASAH1 ABCB4 ALMS1 AMACR TMPRSS6 HSD3B7 AP1B1 AP1S1 TJP2 PKHD1 HP_RECURRENT_JOINT_DISLOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_JOINT_DISLOCATION COL1A2 COL5A2 CHST14 PRKACB COL1A1 RYR1 DSE HP_ACROMICRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACROMICRIA SNRPN PWRN1 MEG3 HERC2 MAGEL2 SNORD116-1 NPAP1 SLC26A2 RTL1 SNORD115-1 MKRN3 PWAR1 NDN DLK1 HP_ABNORMAL_EYELID_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EYELID_PHYSIOLOGY PANK2 TBP AARS1 POLR1C TCOF1 THAP1 TBC1D24 POLR1D MAPT MAFB FTL DRD5 CLCN1 CACNA1A HPCA ANO3 HSPG2 SYNJ1 POLR1B STARD7 TWIST1 VPS13A KCTD17 CPLX1 PARK7 TAF1 SALL4 ATP13A2 PLA2G6 TOR1A ATN1 FGFR3 DDC FGFR2 CP TUBB4A CHN1 HP_AGYRIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGYRIA DCX CDK5 FKTN POMT2 TUBA1A DAG1 POMT1 POMK PAFAH1B1 KIF2A LARGE1 TUBG1 FKRP CEP85L CRPPA HP_ABNORMAL_LDL_CHOLESTEROL_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LDL_CHOLESTEROL_CONCENTRATION CYP7A1 LCAT SAR1B NGLY1 MTTP TTPA LDLR CCT5 SLC25A13 SMPD1 APOC3 FHL1 APOB PPP1R17 SYNE1 LMNA APOA2 ANGPTL3 LPL ALB PANK2 PCSK9 ABCA2 GHR SYNE2 FDFT1 TMEM199 ABCG5 SLC7A7 LDLRAP1 EPHX2 TMEM43 MSMO1 CCDC115 APOE APOA5 ABCG8 CEP19 LIPA EMD ALG6 HP_ABNORMAL_HDL_CHOLESTEROL_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HDL_CHOLESTEROL_CONCENTRATION LCAT ABCA1 SLC25A13 CREB3L3 MTTP APOA1 ALMS1 APOC3 CETP SLC7A7 LMNA PPARG SMPD1 APOE APOA5 LIPC GALNT2 CEP19 LIPA PSMB8 HP_ELEVATED_TOTAL_SERUM_TRYPTASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_TOTAL_SERUM_TRYPTASE TET2 CBL ASXL1 RUNX1 SRSF2 KIT HP_MICROGRAPHIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MICROGRAPHIA VPS13A MAPT GLUD2 ATXN8OS SNCA TBP SLC20A2 FTL NR4A2 ADH1C SNCAIP PDGFRB GBA ATXN2 PDGFB HP_ABNORMAL_CRANIAL_NERVE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CRANIAL_NERVE_PHYSIOLOGY SGCD CFL2 COL3A1 SELENON HLA-DPA1 SLC18A3 LMOD3 GJA1 DOK7 SDHC MUSK ENG MMP23B CCR1 RERE TK2 SH3TC2 COL13A1 SLC9A7 HMBS ANKH TPM3 FAS SPEN RYR1 FRMPD4 ITGB4 SCN4A CHRND CHRNE PTCHD1 CAPN3 PIK3CA ARX MYO9A POLG2 EYA1 PLXND1 MYH7 CHRNA1 PTEN MEGF10 RFWD3 VCP ERCC4 PLEC LRP5 PDGFB CLCF1 ABCA1 GAN PRKCZ BAP1 PMP22 SYP CCDC174 GMPPB KBTBD13 DLG3 ADA2 POLG CDH23 PEX3 DMPK STAT4 LRP4 HLA-DRB1 PABPN1 TGFBR3 PUF60 GSN SALL1 SYT2 RRM2B ERAP1 SDHB PEX2 NARS2 PEX6 SLC25A1 MTM1 CHD7 DMD KLHL41 CHCHD10 CHN1 ACSL4 ZNF711 PEX5 CNKSR2 SPEG TPM2 MID2 BICRA NEB SIX1 COLQ IL23R PTPN11 TFG GNE BRCA2 CNTNAP1 RAB39B DNM2 MPZ POMT2 FKRP GDI1 CHAT ANGPTL6 RPS6KA3 ANO5 ALG13 MECP2 TTN SRPX2 USP27X IDH1 FANCA ACTA1 COL6A2 LYST MYPN NOD2 PRNP UBE4B RAPSN UBA1 TUBB6 SMCHD1 TGFB1 DACT1 MED12 SMO COL6A1 PTDSS1 DPAGT1 SPTBN4 SLC12A6 IQSEC2 LMNA NRAS TCIRG1 FANCB MYMK IL10 SCO2 ACADS HSPG2 LARGE1 CRYAB LAMA2 CLCN7 YME1L1 AMER1 UPF3B GFPT1 PEX12 ZC4H2 USP9X FANCF CLCN4 GLE1 DES SLC52A2 PEX16 SIX5 BAG3 TUBB3 PSAP ADSS1 KLHL40 DCTN1 LAMB2 REV3L BRCA1 AGRN CTLA4 SLC5A7 PDPN TRPV4 SUCLA2 ADCY6 RAD51C TENT5A NLRP3 MYD88 MAFB UBAC2 MTMR2 ASAH1 DKK1 ESCO2 MEFV DNAJB6 KLRC4 ZNF41 POMT1 C4A LMX1B SLC25A4 AKT1 ZNF81 HOXB1 PEX26 CHRNB1 SLX4 AGTR2 DNASE1L3 TNFSF11 AIP SLC39A14 TNFRSF11A FTSJ1 PAK3 SOST SNX10 SHMT2 CRPPA SEMA3E TLR4 SDHAF2 MGME1 SDHD PEX10 WDR26 CHKB XRCC2 FRG1 MEN1 NEFL BMS1 BIN1 HK1 IL12A-AS1 TFAP2A SMARCB1 LUZP1 COL6A3 THSD1 TRAF7 MTMR14 SQSTM1 HLA-DPB1 FANCC PEX14 UBE2T SLC19A3 MTRFR SUFU RAD51 SALL4 PEX13 ALG2 MAD2L2 KDELR2 PEX19 AK9 PRTN3 ALG14 ARHGEF6 FUZ FANCE NF2 GJC2 SNAP25 PEX1 FANCI ADGRG1 FKTN MBTPS2 KCNAB2 KY BTNL2 HLA-B UGT1A1 DLL4 TRIM32 SMARCE1 FANCL AKT3 TSPAN7 SKI PEX11B STEEP1 TERT SLC52A3 IL12A IL1RAPL1 PI4KA CASZ1 VAMP1 PRDM16 PTRH2 DNA2 PTPN22 TWNK CRLF1 OSTM1 COL12A1 FANCG HCFC1 IDH2 BRIP1 FANCD2 GABRD FANCM PALB2 TNFRSF1A LRP12 HP_OCULAR_FLUTTER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCULAR_FLUTTER SLC1A3 CACNA1A SLC35A2 ATP1A3 SLC6A3 ATP1A2 HP_DELAYED_ABILITY_TO_WALK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_ABILITY_TO_WALK RORA LMNB1 HERC2 REPS1 CNOT3 SATB1 AHDC1 FAR1 COL12A1 PUS7 SPOP SIGMAR1 CAMK2A PIGG CUBN PPP2R5D MYO9A NBEA TRIO RUBCN POLR2A SNRPN KDM1A PPP2CA DHX30 FBXL3 ERLIN2 LSS FITM2 SDHB SLC12A2 CPLX1 PCYT2 ZEB2 NCDN FLVCR1 CDK13 ADARB1 WASF1 ZSWIM6 MECP2 DOCK3 SHMT2 FASTKD2 BRPF1 TCF20 SPG11 LAMA2 ARID1B DPM3 PIEZO2 XYLT1 TNPO3 FBXO11 ZNF148 KARS1 WDR26 HECW2 LMNB2 INPP5E FOXG1 TMEM63A TRAPPC9 CWC27 CUL3 NDUFA1 AHI1 WDR4 P4HTM CLCNKB PAK3 ALMS1 IQSEC1 MAPK8IP3 NDUFA12 HK1 SMARCA2 YY1 HUWE1 CREBBP CYP3A4 MSL3 HS6ST2 PHEX HNRNPK CLCNKA TBR1 SMARCD1 DYNC1I2 NEUROD2 RAB11B RAI1 SEMA6B SLC9A7 PLP1 UBE3A RYR1 SLC25A42 GARS1 KMT2E PAK1 LRRC32 COG1 PGAP1 TMTC3 MPZ SET ATG5 DAG1 OPHN1 DHPS SHOC2 SYT1 BSND PRMT7 ACTN2 TANGO2 STAG2 NCAPG2 SLC5A7 ABCA2 PACS2 SON NONO MRAS AMPD2 EP300 ASXL3 TMEM94 GRIA4 MTPAP PIGC CSNK2B RUSC2 SMC1A MRPS14 ARL13B KPTN FRMPD4 PLOD1 ATG7 MAGEL2 PNPLA2 FOXP1 SLC18A2 TRRAP BCL11B SETD5 ODC1 CLDN11 CHD3 TIMM50 RPL10 DPF2 SLC16A2 SLC25A1 EBF3 KDM3B KDM5B GALNT2 ALS2 DPYSL5 PIGO GRIN1 RALA CASK MRPS25 ZC4H2 NARS1 DYNC1H1 BRAT1 PMPCA AMN DLAT NFASC ATP10A KLHL15 FBLN1 TRIM2 RAB3GAP1 COPB1 AP3B2 ATP6V1A TRMT1 MBOAT7 FUS CNKSR2 NMNAT1 HP_ABNORMAL_CONUS_TERMINALIS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CONUS_TERMINALIS_MORPHOLOGY NSD2 CPLX1 CTBP1 CREBBP NELFA LETM1 DARS1 EXT1 RASA1 EP300 PRMT7 TRAF7 MNX1 CTNNB1 KDM1A HAAO FGFRL1 PIGG PIK3CA EXT2 HP_USUAL_INTERSTITIAL_PNEUMONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_USUAL_INTERSTITIAL_PNEUMONIA MUC5B TERT SFTPA2 RTEL1 ABCA3 SFTPC HP_NOCTURNAL_SEIZURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NOCTURNAL_SEIZURES CHRNA2 DEPDC5 NPRL3 CHRNA4 SATB1 CRH NPRL2 KCNT1 GPHN RELN GRIN2A CABP4 GLRA1 LGI1 CHRNB2 SPTBN1 HP_ELEVATED_CIRCULATING_ASPARTATE_AMINOTRANSFERASE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_CIRCULATING_ASPARTATE_AMINOTRANSFERASE_CONCENTRATION SUCLG1 VPS13A NSMCE2 ATP6AP1 HADHA SLC2A2 SMPD1 BAAT SCO1 ASL LIPA PRKCD SLC51B PEX16 NR1H4 MRPL3 NFS1 HADHB PEPD OCRL COG8 HP_SPASTIC_PARAPARETIC_GAIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPASTIC_PARAPARETIC_GAIT KIF1A ATP6AP2 KIF5A FARS2 AMPD2 SLC39A14 ARL6IP1 SHMT2 FBXO7 HP_ARM_DYSTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARM_DYSTONIA DLAT SYNE1 SPG11 VPS16 FUS SIGMAR1 ALS2 FTL HP_ELEVATED_CIRCULATING_ALANINE_AMINOTRANSFERASE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_CIRCULATING_ALANINE_AMINOTRANSFERASE_CONCENTRATION SUCLG1 FADD VPS13A NSMCE2 ATP6AP1 SLC2A2 SMPD1 BAAT TKFC SCO1 LIPA PRKCD SLC51B GAA NR1H4 MRPL3 NFS1 BCAT2 PKHD1 OCRL HP_ABNORMAL_URINE_CARBOHYDRATE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_CARBOHYDRATE_LEVEL MIR140 APC KHK STK11 TKT GALT KRT8 GALK1 MAN2B1 RPIA KRAS NEU1 GALE MANBA CASP10 SNX14 FBP1 TTC37 KLF6 TP53 GK DCXR FUCA1 IRF1 SLC25A13 ERBB2 MUTYH KRT18 OCRL GAA SMAD4 PIK3CA GLB1 FGFR2 HP_ABNORMAL_URINE_CARBOXYLIC_ACID_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_CARBOXYLIC_ACID_LEVEL KIF1B TMEM70 CPOX HMGCL NDUFB10 HPD UMPS AUH OXCT1 BCKDHB SLC25A15 TIMM50 MICOS13 UROS HGD ASL ATAD3A AGK ATP5F1D OPA3 SUCLG1 MVK TAT POLG UROC1 GATA1 ALDH5A1 ATPAF2 BCKDHA CLPB ALAD PCCB ASS1 SERAC1 HMBS TAFAZZIN SLC7A7 ACADM PCCA ARG1 PPOX DNAJC19 RET ATP5F1E SDHA HTRA2 PAH DBT HP_ABNORMAL_PULMONARY_THORACIC_IMAGING_FINDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PULMONARY_THORACIC_IMAGING_FINDING ABCA3 SEC24C HLA-DRB1 B3GALT6 PRTN3 RTEL1 MYD88 CFAP221 UBAC2 COMT DNAH1 HLA-DPA1 ODAD2 IFNGR1 IL23R RSPH4A JMJD1C RASGRP1 DNAAF2 DSP DPP9 EIF2AK4 BIRC3 MUC5B DNAH9 MEFV CCR1 MCIDAS HLA-DPB1 KLRC4 CASP10 FAS C4A DNAAF4 CSF2RB IRF5 TTC12 CCNO COL3A1 DNAAF1 DNAJB13 SMPD1 CFAP300 PAX3 HLA-B RPGR DRC1 CCDC65 FOXJ1 ODAD1 SFTPB SPAG1 BACH2 BTNL2 CCR6 ZMYND10 DNAI1 TERT NEK10 HIRA PDGFRA TLR4 LPIN2 RSPH3 DNAL1 GAS2L2 SPEF2 TBX1 NHLRC2 TSC1 TSC2 MALT1 SFTPA2 DNAI2 CCDC39 STAT3 IL10 SFTPA1 GBA SLC34A2 DNAAF6 IL12A UFD1 CCN2 ODAD3 LAMA2 RSPH9 DNAH11 CSF2RA DNAAF3 STAT4 CCDC40 CCDC103 PLEC IL12A-AS1 GAS8 GP1BB PTPN22 FOXP1 PRKCD SFTPC TERC BMPR2 ARVCF RSPH1 DNAAF5 FAM13A FASLG OFD1 NKX2-1 ERAP1 RIPK4 CAV1 RREB1 APOE ASAH1 NME8 ATP11A RAB27A STN1 UBA1 CTLA4 DNAH5 ODAD4 OCRL PARN BCL10 CXCR4 DNAAF11 CFAP298 LRRC56 HYDIN IL2RA STK36 HP_DIMINISHED_ABILITY_TO_CONCENTRATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIMINISHED_ABILITY_TO_CONCENTRATE POLG TWNK TREX1 DYM HERC2 EMC10 ERF TBL1X SPTBN1 HP_HETEROPHORIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HETEROPHORIA HACE1 KIDINS220 AFF4 HOXB1 TRAPPC11 SCN8A TBX1 HP_HETEROTROPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HETEROTROPIA RORA RPL10 RTL1 ARHGAP31 IARS2 GNB2 AHDC1 GRHL2 PIGL ADGRG1 HERC2 SLC18A3 POU4F1 DPM1 AMMECR1 GALC OVOL2 TCTN3 RERE GRID2 FBXW11 CRIPT TENM3 PIGV KCNMA1 EMC1 PPP2R5D COL6A2 KDM1A BCOR HOXB1 ATOH7 SMAD3 CHST3 RPE65 NEXMIF NCDN ADARB1 VSX1 BLOC1S3 ZSWIM6 HPDL MYO9A MBD5 COG8 ATAD3A FGFR3 RRAS2 LRAT WARS2 PIGY MC1R TMEM67 RNF113A HADHA TUBB3 CRB1 LYRM7 MADD CYB5R3 OCA2 SYT1 SH3TC2 PAX6 SNRPN SLC25A46 NGLY1 CDC42 CHMP1A ATP1A2 ZC4H2 USP7 GBA SLC35A2 PYROXD1 SEC23A SON NDN LCA5 P4HTM GLRB MAGEL2 ERCC3 RP1L1 PIGN PDE6D WT1 MYF5 FGFR2 UNC80 DPAGT1 ADNP COL13A1 COL4A1 AHCY ERCC2 SOBP SLC6A8 NONO KAT8 TMEM216 HUWE1 PEX5 PTEN PIGW PUF60 FAM149B1 DDOST ATP1A3 CYB5A SYT2 ALG9 CLP1 SALL2 DNMBP BCORL1 SLC25A1 CPLANE1 COL6A3 GTF2H5 ZEB2 ADD3 COL8A2 CLCN6 PGAP3 GTF2E2 NEUROD2 TAF2 PPP1R21 NTNG2 B3GAT3 PDE4D ALG2 SREBF1 ATRX PRPS1 MRPS34 DYRK1A MPLKIP PGAP2 CACNA1A SNAP25 EFNB1 CHAT TMEM231 COL4A2 GRM1 SLC38A8 THOC2 RRM2B KIDINS220 AGRN COL12A1 FBN1 ACADSB TARS1 TGFBR1 SOX5 PHOX2A SNORD116-1 DLK1 HNRNPH2 PYCR2 KDM6B ADAT3 SLC17A5 MYOD1 FGF10 LGI4 PMM2 APC KIF7 ZEB1 NR2F1 RNF2 SCO2 SPATA7 PIGO PIGT TBC1D23 UBE3A OFD1 NALCN GNA14 VAMP1 PWRN1 GALNT2 PTRH2 SIAH1 TGFBR2 RNASEH1 MKRN3 PWAR1 IRF2BPL SLC1A3 MEG3 SOST TRIT1 COL11A1 NPAP1 KIAA0753 LMNB1 PHGDH TYR TBX1 EXOC8 SLC5A7 DPP6 LAGE3 KIF21A SNORD115-1 COL6A1 HMGB3 NMNAT1 HP_ABNORMAL_SPUTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SPUTUM TGFBR2 HLA-DRB1 PRTN3 ENG CFAP221 UBAC2 DNAH1 HLA-DPA1 ODAD2 COL5A1 IL23R RSPH4A F5 DNAAF2 FBN1 FOXE3 MYH11 EIF2AK4 DNAH9 COL5A2 MEFV CCR1 MCIDAS KLRC4 TRAF3IP2 SCNN1G IL17RC C4A DNAAF4 TTC12 TGFB2 TGFB3 COL3A1 DNAAF1 FAS DNAJB13 CFAP300 BTNL2 HLA-B CCNO DNASE1L3 DRC1 CCDC65 FOXJ1 ACTA2 SPAG1 IL12B TGFBR1 ZMYND10 DNAI1 NEK10 ODAD1 TLR4 MLX RSPH3 ACVRL1 HEY2 SCNN1A DNAL1 CLEC7A GAS2L2 SPEF2 MYLK TSC1 SMAD2 TSC2 DNAI2 CCDC39 IL10 PRKG1 SLC34A2 DNAAF6 IL12A LOX ODAD3 RSPH9 MAT2A DNAH11 DNAAF3 FCGR2A STAT4 CCDC40 CCDC103 ELN IL12A-AS1 SCNN1B CFTR SMAD4 PTPN22 SMAD3 GAS8 HLA-DPB1 IL17RA TGFB1 RSPH1 MFAP5 DNAAF5 IL17F GDF2 OFD1 ERAP1 NME8 CTLA4 DNAH5 ODAD4 RPGR TLL1 DNAAF11 CFAP298 LRRC56 HYDIN STK36 HP_DECREASED_VIGILANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_VIGILANCE MEN1 CACNA1A PLP1 SCN1A CDKN1A PRRT2 CDKN1B CDKN2C ATP1A2 CDKN2B HP_FOCAL_CORTICAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_CORTICAL_DYSPLASIA NPRL3 CNTNAP2 AKT3 TSC1 NPRL2 DEPDC5 PIK3CA COL4A1 MTOR NUP133 TSC2 HP_FOCAL_CORTICAL_DYSPLASIA_TYPE_II http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_CORTICAL_DYSPLASIA_TYPE_II MTOR NPRL3 TSC2 TSC1 DEPDC5 HP_HYPEREOSINOPHILIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPEREOSINOPHILIA TRAC NLRP1 SPINK5 CARD9 EXTL3 HP_GASTROINTESTINAL_EOSINOPHILIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROINTESTINAL_EOSINOPHILIA TGFB2 TGFB1 TGFBR2 TGFBR1 TGFB3 SMAD3 JAK1 HP_LEFT_VENTRICULAR_OUTFLOW_TRACT_OBSTRUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEFT_VENTRICULAR_OUTFLOW_TRACT_OBSTRUCTION GDF1 GAA FHOD3 TAB2 MED13L HP_UNUSUAL_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNUSUAL_INFECTION PSENEN TNFRSF13B ATP7A RNU4ATAC SH3KBP1 C1R TRPS1 RAG1 SATB1 MGP CCDC47 SLC7A9 STX1A HERC2 SLC18A3 TPM3 GAA KMT2D TRIP11 PTPN22 VPS51 GJB6 KRAS DNAAF1 TAPBP KANSL1 LAMB3 TNRC6B C5 NTRK1 CARD9 MBTPS2 ARSL NBEA MYH6 EGFR KAT5 IFNGR2 IER3IP1 NFE2L2 CACNA1B NAA10 CCNO FAS CFD CD247 TET2 TPP2 AGA ZEB2 IRF2BP2 CHRNA3 GJB2 IL2RG SIN3A TGM1 MYO9A SBDS BACH2 CFI DNAJB11 GRHL3 CCDC65 BCOR NXN SLC6A14 MYD88 IGKC STAT3 ERCC4 TP63 SLC46A1 NGLY1 AKT1 HACD1 LRIG2 PHKG2 ENG CCDC39 SRP54 CTBP1 ZAP70 CCDC103 IRAK4 MANBA DYNC2I2 PARN SUCLG1 NDN ELANE ITGB2 ZNF699 STAR NDUFC2 CTCF ROR2 ARSB LCK IKZF3 WAS EHMT1 AK2 ERCC2 LAMC2 SCNN1B GLIS3 SNORA31 EXT1 HYAL1 MESP2 DNAAF11 COG4 GAS8 NCF1 MRAP CREBBP BTK INSR TBX20 NEK10 TGFB1 KIF15 GUSB HPSE2 TSEN2 UROD KCNN4 RFX5 CD79A ERAP1 SETBP1 CSF3R PRPS1 SNRPN CFAP410 GNS SLC25A1 SMARCA2 PKD2 UBE2A BCL7B DNAH5 PML NFKB1 ATM ARID1A CEBPE EDNRA ADNP CACNA1C COL13A1 CEACAM6 SLC2A1 ARID2 PPP1R21 NFKB2 ORAI1 SLC35C1 SOCS1 L2HGDH RAB3GAP2 COL5A1 IL23R RSPH4A FLT1 BRCA2 COG1 FCN3 IGLL1 ALB FAT4 MPLKIP TMC8 FBXL4 PLG SCNN1A CYBB DNAH9 JAK3 FUCA1 SRCAP UBB ARHGAP29 CHAT ELN ARID1B MAGEL2 TBCE NHEJ1 IL17RC HEPHL1 TCIRG1 SERAC1 EIF4H ABCA12 TTC12 GLUL ITCH PLP1 DOCK8 DNAJB13 LYST BCL10 USB1 DNAAF6 PSMB9 BPTF DEAF1 CD27 IDUA FLNA PSEN1 TARS1 RAG2 BUD23 TYK2 GOT2 LRRC56 FOXJ1 PLEKHM1 MEFV CISD2 SNORD116-1 PSMB8 CLDN3 SLC39A8 ATN1 SMN1 AICDA COL6A1 MDM4 SPTBN4 IGHM RIPK1 ODC1 FANCB TLR3 IL10 TIMMDC1 TBCD RAC2 DZIP1L POLR3GL ODAD3 LAMA2 DDR2 PWRN1 CLPB DNAAF3 IRF5 FOXN1 MKRN3 MIR140 PWAR1 EXTL3 PRKAR1A ADAT3 EDARADD ISL1 STK36 FCGR3A RTL1 POMP LAMB2 CDH23 TTC7A FGFR3 BRCA1 TMEM270 TBX1 SLC6A19 PSAP SLC5A2 IRF9 G6PC3 CXCR4 TF PNP RFXAP IL2RA KMT2C RAD51C SIM1 RPL10 VPS45 C3 CD19 UBAC2 ODAD2 STX3 POLR3A MBL2 BCHE BCL6 TAP1 CD3D CD3E HELLS FADD RSPH1 ATP6AP1 ICOS ALOXE3 CD81 PRF1 CD3G ESS2 GRM7 PTPRC C4A IDS BMP4 RFXANK MYL2 TOP3A UNG PTEN CD8A SLX4 ATP6V0A2 FCGR3B NELFA ADORA2A FLVCR1 RAC1 TNFSF11 DRC1 GBA FOXC2 NFKBIA RARA TRIP4 MGAT2 CD70 NCF2 RNF113A EFEMP2 METTL27 FLNC MAPK1 TNXB PEPD TLR4 BLM CLDN19 CD4 CLCN7 MAP3K7 BRAF RBCK1 MYSM1 SPEF2 FARSB TSC1 STING1 CDCA7 ACP5 CTPS1 IL2RB VPS4A UBE3B EPG5 IL21 TNFRSF13C SON DCLRE1C CD79B UMPS P4HTM CARMIL2 PLOD1 MS4A1 TNFSF15 ERCC3 SLC37A4 UNC119 IL17F PLEC CFTR CDC42 EN1 COL6A3 MVK ADAM17 TAFAZZIN C1QB IKBKG OCA2 DNAJC21 RFC2 AP3B1 TRIM37 ELP1 NCF4 AIRE SLC7A7 IKZF1 UBE2T TTC37 SF3B1 CITED2 USP8 CTSC PSMB4 STAT1 ITK NKX2-1 CRKL FOXP1 MCIDAS RAD51 NME8 ACTC1 ALG3 ALG12 A2ML1 PSMD12 IL7R ORC6 CASP8 NUMA1 VANGL1 ODAD4 INPPL1 SP110 DDX6 PGM3 PIGG FBLN5 KIF20A CFHR2 PRTN3 DNAH1 RASGRP1 SERPINA1 ZNF341 HLA-B ITGA3 CLIP2 SMARCAL1 TNPO3 THOC6 AP3D1 FANCE ABHD11 PKD1 ZBTB24 MCM10 SNAP25 MYH3 DGCR2 KDM6A SCNN1G IL12RB1 SMARCE1 WAC ALOX12B IFIH1 DNAI2 NLRP3 LEP FANCI IFNGR1 CR2 WDR26 HLA-DRB1 CORIN NEPRO EP300 SAMD9 SLC35A2 PCYT1A SPAG1 SMARCA4 FANCL ZMYND10 TCF3 DDOST HMOX1 ANKRD17 IL6ST SETD2 NCKAP1L CLEC7A PLCG2 DNAL1 MGME1 NECTIN1 GAS2L2 SKIV2L TRAF3IP2 TNNI3 ALMS1 GNPTAB BICC1 TNFSF12 IL12A WIPF1 TBC1D23 VPS33A TRIO C8A SCN10A KIF1A HBB TBC1D24 WRAP53 BCL2 SELENON RALGAPA1 CCDC40 CSPP1 SGSH GTF2IRD2 TBX6 CLTRN FMR1 SLC9A3 DYRK1A GRHPR ATRX LAMTOR2 POU2AF1 VPS37D PRKDC TERT DLG1 OFD1 SMPD1 MAP3K20 PCNT DSG1 TSEN54 RMRP TCTN3 SPIB FANCD2 ALPL STIM1 PKP1 KAT6B SEPSECS LMNB1 GTF2I FCHO1 CFAP221 UROS HLA-DPA1 PRDM12 TECPR2 PDHA1 UROC1 TNFRSF11A DDB1 PKHD1 CCR1 CRIPT IVNS1ABP DNAAF2 ANTXR2 ECM1 FIP1L1 SPTBN1 EFL1 NHP2 PIK3R1 ALG1 GALNS MAN2B1 P4HA2 DLK1 WASF1 LAT COL11A2 DBR1 ODAD1 LBR GATA4 SDCCAG8 CHAMP1 SIK1 TBL2 SHANK3 RFWD3 MCM4 RSPH3 CIITA PIK3CD UNC93B1 ERF KATNIP KRT1 TRAIP RYR1 GCLC PYROXD1 B2M SLC26A9 DKC1 IGBP1 DNMT3B DNAH11 FCGR2A STAT4 WDR1 IFNAR2 RELB DPM2 TNNT2 APRT CDH1 TPM2 CORO1A KIAA0586 TINF2 ASXL1 SMARCC2 TICAM1 COL4A5 DNAJC30 SYT2 C6 BCR SLC26A2 DISC1 POLA1 RPGR ADA OCRL PRKCD GTF2H5 DCTN4 TASP1 TLL1 MC2R SETD1A RNF168 SHROOM4 ITGA7 CRELD1 SLC39A4 SLC3A1 XIAP HFE PURA PET117 COLQ TMEM70 LCP2 GMNN EIF2AK3 ANAPC1 ARL3 SREBF1 MAGT1 MYL9 BIRC3 IARS1 GSTM3 PHKA2 CPLX1 SLC29A3 EOMES KDM5C RUNX2 SEC61A1 NOTCH2 DNAAF4 LMNB2 SLC35A1 SCN9A MYH11 GLI3 FOXP3 ZBTB16 CTNNB1 NSUN2 FANCA IRF3 NPHS1 DHCR7 GATA6 FMO3 SULT2B1 KCTD1 CCDC22 DNAI1 IKBKB BNC2 TLR7 CYBA AASS EYA4 TSC2 MALT1 KRT14 SDR9C7 PIGU MRTFA IL17RA CLCA4 NBN MNS1 GTF2E2 MASP2 LRBA MECP2 HAX1 LIPN STAT5B SIAH1 USP9X WDR19 KCNJ6 TONSL ALG9 MEG3 SLC11A1 IL6R NR2F2 MED13L FANCF SFTPC CD40 TSEN15 PEX5 LETM1 CYP4F22 MSN CTC1 ALG13 SRY WASHC5 CTLA4 SLC5A7 HPS6 TSEN34 TBK1 LEPR SOX11 IL7 BTD NSD2 NRAS CFHR3 CFH GFI1 EXOSC9 STK4 GTF2IRD1 KNSTRN POLE ASAH1 SPINK5 ZNHIT3 DYM TAP2 KLRC4 TERC C4B MPEG1 ISG15 HGSNAT POLR2A ACVRL1 STXBP2 NABP1 IRF8 DNASE1L3 RSPH9 NAGLU C1QC DPF2 SNX10 SYK GANAB DGCR8 DLX4 SMARCB1 NHLRC2 GLB1 IRF6 XRCC2 ACTA1 MIF GRIA3 CYBC1 STX11 C1QA GALC NLRC4 GATA1 IFNG NOP10 TBL1XR1 CFAP298 LRRC8A ADAMTS3 ARPC1B COL4A6 IL12A-AS1 CEACAM3 ADA2 LMBRD1 YY1 DLL3 COG6 LONP1 HLA-DPB1 FANCC AGXT SCN11A NPM1 LAMA3 RPS14 GINS1 SMARCD1 MTHFD1 TK2 CD40LG MED25 NNT HYDIN MAD2L2 IL10RA SOX4 HOXA13 FLI1 SAMD9L GATA2 MYO5A SMARCD2 SH2D1A RAB27A UNC13D PCGF2 COL5A2 CLDN16 JAGN1 TFRC NIPAL4 TRAC KRT5 TXNRD2 MSX1 LAT2 HSPA9 COL6A2 MYPN C7 RPL11 AGRN CFAP300 JAK1 ASXL3 FERMT3 STOX1 CARD11 NKX2-5 MLXIPL CAVIN1 CHRM3 WFS1 DGCR6 SLC25A22 CD55 IL21R KPTN LIMK1 CFB BCL11B BAZ1B BLNK HLA-DQB1 RNF2 UGP2 CCBE1 SLC52A3 MMEL1 LIG4 RTEL1 HYOU1 VAMP1 MNX1 SLC1A4 ATP6AP2 FKBP6 DNAAF5 CLDN4 NPAP1 COL2A1 FANCG C8B NDE1 BRIP1 SNORD115-1 FANCM PALB2 TNFRSF1A HP_SACCADIC_OSCILLATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SACCADIC_OSCILLATION KIF1B SLC1A3 CACNA1A TMEM240 VPS13D TCIRG1 SNX10 SLC6A3 ATP1A2 GBA CLCN7 TNFSF11 SLC35A2 ATP1A3 HP_CONJUNCTIVAL_ICTERUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONJUNCTIVAL_ICTERUS PIGA PIEZO1 PKHD1 SLCO1B3 SLCO1B1 HP_LIMBAL_STEM_CELL_DEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMBAL_STEM_CELL_DEFICIENCY FGFR3 NLRP1 FGF10 FGFR2 DDR2 PAX6 HP_ABNORMAL_PERIPHERAL_NERVOUS_SYSTEM_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PERIPHERAL_NERVOUS_SYSTEM_PHYSIOLOGY OPA1 SLC25A15 MPV17 PSAP FLVCR1 TRPV4 MED25 LITAF PDK3 MTMR2 EGR2 NEFL DHH GALC CCT5 NTRK1 PMP22 TBC1D24 SH3TC2 MPZ ERCC8 EDNRB ARSA VCP FBXO38 MFF GDAP1 DIAPH3 CEP126 HPDL SPTLC2 LMNB1 VPS13A OTOF DYNC1H1 PRPS1 NDRG1 LAMA2 NALCN PRX ARHGEF10 MORC2 KIF1B IDUA ERCC3 TPI1 YEATS2 DCAF8 MTRFR IGHMBP2 GARS1 PNKP SOX10 SBF2 HSPB8 ATL3 SETX PLEKHG5 FXN DNM2 REEP1 KIF1A SUMF1 FBN1 TYMP SORD NOTCH2NLC FBLN5 PNPT1 GJB1 SIGMAR1 CYP27A1 FAM126A COMP FIG4 LTBP3 LRSAM1 AIFM1 ATXN1 RRM2B RAI1 SEMA6B SNAP29 PLP1 NGLY1 MYH14 TFG PLA2G6 TIMM8A EBP EPM2A ABCD1 SAMD9L FGD4 GJC2 AARS1 MYH3 UQCRC1 SACS POLG MARCHF6 HSPB1 RAB7A MATR3 CTDP1 LYST DEGS1 WNK1 SUCLA2 ATXN10 BSCL2 MFN2 DHX16 NHLRC1 CPLANE1 ERCC6 SCN9A JPH1 ABHD12 SPTBN4 SLC12A6 HSD17B4 SBF1 PEX6 ATL1 PTRH2 LMNA GFM2 NEU1 CHCHD10 MOGS HK1 TBC1D20 RETREG1 NFASC SPTLC1 STARD7 SAMD12 SPG21 ERCC4 NMNAT1 HP_DECREASED_CIRCULATING_TOTAL_IGG http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_TOTAL_IGG KNSTRN ATP6AP1 PIK3CD IVNS1ABP MS4A1 CD19 CD81 SYK CR2 HP_DECREASED_CIRCULATING_IGG_SUBCLASS_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_IGG_SUBCLASS_LEVEL CTPS1 ADA EPG5 ATM CD247 CR2 PIK3CD HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_VACCINATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_VACCINATION ICOS TNFRSF13B CD19 CARMIL2 RIPK1 LRBA CD70 CD81 CD247 TNFRSF13C CR2 CASP8 CTPS1 KNSTRN IRF2BP2 PIK3CD RAC2 ALG12 CARD11 HP_EPISODIC_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISODIC_PAIN EPAS1 SDHA SDHD MAX FH SDHC MRAP VHL TMEM127 FLI1 SDHB ERBB3 CDKN1B DNMT3A SLC25A11 ATRX ESR1 CDC73 KIF1B LPL RET SDHAF2 MC2R DLST TGFBI DAXX CPT2 STAR MEFV F12 NNT HEXB PIGA NF1 GNE TXNRD2 MDH2 HP_KERATOSIS_PILARIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KERATOSIS_PILARIS KRT81 BRAF KRT86 ODC1 NLRP1 SOS1 CARD14 SOS2 COL12A1 LRP1 GJA1 KRT83 NRAS WNT10A LZTR1 MAP2K1 MBTPS2 FLG SHOC2 COL6A2 KRT16 KDF1 HEPHL1 RAF1 COL6A3 COL6A1 HP_JOINT_SUBLUXATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_SUBLUXATION COL5A1 GLI3 GLB1 COL1A2 PLOD1 DDR2 COL2A1 COL1A1 MADD GALNS MMP2 EFEMP2 KIF22 PUF60 ADAMTS2 FLNB IDUA B3GALT6 ARSL XYLT1 FBLN5 RMRP TNXB HP_APHTHOUS_ULCER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APHTHOUS_ULCER PRKCD DCLRE1C HLA-DQB1 FAS SRP54 NLRP3 ORAI1 HLA-DQA1 GFI1 NLRP12 UBAC2 IL10 IL17RC HLA-B IL23R IL12A ELANE RASGRP1 FASLG IL21 IL6 PRKDC ERAP1 NOD2 MVK CARMIL2 MEFV CCR1 NCF4 TCIRG1 KLRC4 CASP10 STAT4 TLR4 WDR1 IL12A-AS1 C4A ADA2 HP_UNUSUAL_INFECTION_BY_ANATOMICAL_SITE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNUSUAL_INFECTION_BY_ANATOMICAL_SITE TNFRSF13B PRTN3 TMEM70 UBAC2 L2HGDH HLA-DPA1 SLC35C1 IL23R SH2D1A PTPN22 BCL6 IGLL1 WAS IKBKG UNC13D JAK3 MEFV TFRC PRF1 CD79B CARD9 CCR1 KLRC4 FOXP3 C4B NLRP3 C4A ACVRL1 PGM3 FAS P4HA2 STXBP2 FCGR3B IRF3 HLA-B DNASE1L3 BCL10 RAG1 CD27 CD19 CFI RFX5 NCF2 BTK DBR1 LBR TNFRSF13C STAT1 TLR4 NCKAP1L MYD88 RFXANK CIITA CYBA CYBB CFB UNC93B1 ENG BLNK TLR3 IL10 STX11 MRTFA IL12A WIPF1 NLRC4 NCF1 C8A IL2RG HLA-DRB1 HYOU1 CARMIL2 IGHM LRRC8A BCL2 STAT4 IL12A-AS1 SNORA31 MVK CLTRN ICOS CYBC1 ATRX HLA-DPB1 CR2 TCF3 NCF4 TICAM1 PIK3R1 C8B CD79A ERAP1 NDE1 RAG2 SLC6A19 CTLA4 XIAP VANGL1 CD40LG CXCR4 TBK1 IL7 RFXAP HP_UNUSUAL_SKIN_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNUSUAL_SKIN_INFECTION NCKAP1L PGM3 CARMIL2 CARD9 MVK IKBKG HP_MOLLUSCUM_CONTAGIOSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOLLUSCUM_CONTAGIOSUM NCKAP1L PGM3 CARMIL2 MVK IKBKG HP_SEVERE_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_INFECTION CD3E TPP2 PGM3 FOXP3 TET2 FCGR3B ADORA2A CTPS1 BLM SH2D1A RAC2 RAG1 MAGT1 FCGR3A CD247 TMC8 LAT IKBKG CD27 ITK RAG2 MCM10 CD70 CD3D MECP2 ELANE IL7R XIAP PRPS1 PRKCD TGFB1 IKZF3 PTPRC TLR7 IL7 IL2RA HP_SEVERE_VARICELLA_ZOSTER_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEVERE_VARICELLA_ZOSTER_INFECTION CD27 CTPS1 TGFB1 PGM3 BLM RAC2 CD70 MAGT1 FCGR3A IL2RA HP_ABNORMAL_CIRCULATING_GLOBULIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_GLOBULIN_LEVEL PLG CIITA TF SERPINE1 ALB RFXAP RFXANK RFX5 HP_ABNORMAL_CIRCULATING_METABOLITE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_METABOLITE_CONCENTRATION SDHD SLC25A15 RAG1 NRAS NUP107 FLI1 TNNI3 DPM1 NEFL STX16 FOS ABHD5 LAMB3 MT-TK SLC6A8 TP53 CYP11B2 FECH CARD9 TNNT2 LIPE STEAP3 AQP2 AGPAT2 FKTN LMAN1 MT-ND1 PC FAM111A TSHB MT-ND4 MYH7 RHCE LMNA DPM3 TMEM70 MT-ND2 NGLY1 MCCC2 GLRX5 ITGB4 CALM2 DYSF ACADS ATP8B1 MYH6 CYP27B1 MMAB STAT6 SUCLG1 PDX1 PEX5 KBTBD13 PDHX GMPPB MIEF2 TNNC1 MYO5A PEX7 AHCY UQCRFS1 MYOT PLEKHG5 MPO NCF1 TRAF3 INSR ACAD9 PCCA MT-TE GPD1 PPOX UROD SCNN1A RRM2B AEBP1 INF2 BVES SORD CLCNKA ABCD3 KCNJ2 PKD2 KCNJ11 PIGA B4GAT1 QRSL1 SLC2A1 MT-TF HNF4A ACAT2 CPS1 SLC25A20 CYP11A1 IYD SGCB TK2 GYPC SLC19A1 FLT1 POMT1 ALB NPHS1 FAT4 FBXL4 FAH DMPK LDHA CDKN1B FBP1 FKRP SPINK1 MAX SLC30A2 ELN ANO5 TANGO2 EIF4H COL4A1 B3GALNT2 PANK2 CEL HPRT1 PCK1 SLC33A1 SLC39A14 COQ9 FTL CRPPA SLC34A3 ANK1 AASS LDLRAP1 GCM2 PSMB9 UNC93B1 ACAD8 APOE RAG2 MTX2 GOT2 SLCO1B1 NEB PNPO COX8A RAI1 ABCG5 MEFV DHX16 HIRA MIF GLI2 CLDN3 TCAP SGCD CYP7A1 TBX1 SYNE2 NUP205 ACOX2 COL6A1 LYST SLC30A9 TBCD PHKA1 LARGE1 MYPN GATB FGFR3 DZIP1L CALM3 CDC73 SMPD1 HAVCR2 DISP1 HNF1A PLCE1 IRF5 PHKA2 DCAF17 QRICH1 ATP6V1E1 SPTA1 CYP17A1 FHL1 INS MTTP ATP1A1 UNC45A CDKN1A PPARG PET100 KCNN4 LIMS2 COX6B1 RTL1 G6PC1 CDH23 TMEM270 IL6 RXYLT1 FTH1 ABCB4 PNP UBR1 CFHR1 TRAPPC11 NUP133 ABCC8 BCS1L LCAT CREB3L3 RNASEH1 RYR1 PYGM KCNJ18 HLA-DRB1 ENPP1 ATP6AP1 SLC25A13 PIEZO1 AGL VHL GCK PRF1 GUCY2D ESS2 DNAJB6 CYP11B1 PRKCSH UGT1A1 CSF2RB RFXANK NDUFS1 GLYCTK ZIC2 KRT8 HADHA ATP6V0A2 TBCE GNPTG TMPRSS6 TMEM127 HNRNPDL MCFD2 SLC40A1 TAF1A VCL NUP85 POMT2 KCNH2 LAMA1 SCO1 WNK1 METTL27 PRPS1 LIPA CBS LAMA2 CLDN19 CLCN7 LMOD3 ALDH4A1 LDB3 BCL10 KYNU GLA CAV1 STING1 CHKB TOR1AIP1 CAP2 UBE3B FLAD1 TFAM PAH NADK2 RPS20 MPZ SLC37A4 CFTR ABCB6 PLEC COL6A3 MMP1 PYGL DNAJC21 SQSTM1 RFC2 MAGI2 VCP TTC37 USP8 PSMB4 CTRC SPTB FOXP1 FBN1 XK CAV3 ITGA7 INPPL1 CACNA1D DSG2 HADHB COG7 PLIN1 RHAG CFHR2 TTN MYO1E PRTN3 CLCNKB COL12A1 MMAA MET CLIP2 TNPO3 ZMPSTE24 ABCG8 EBP DUOX2 COQ2 RMRP PKD1 POLG LPL SCN4A MCM10 BSND SLC6A6 COX10 APOL1 PIGT PEX12 CAD NNT TAFAZZIN ABCA2 CRB2 PSMB10 VDR MOCS2 SAMD9 SLC35A2 SLC34A1 GALK1 SUCLA2 CPT2 ALPL KRT18 ERCC6 CTNNB1 APOC2 AP1S1 LACC1 ALG6 MGME1 PIGY MICU1 NDUFB10 FXYD2 BICC1 MT-ND3 CASQ1 NDUFS6 STX11 ABCB11 HBB GALNT2 BCKDHA ACTA1 NT5E FGF8 AP2S1 MT-ND6 GP1BB ANGPTL3 PEX19 IL37 SGCA GFPT1 HJV HAL COL7A1 PTPN22 ACTN2 DMGDH TUFM PHGDH DSG1 KCNJ10 SPIB TBL1X GFER MCCC1 SLC4A1 MPV17 GTF2I PPCS CFH CFL2 LRP6 HLA-DPA1 ATP7B PKLR DOK7 MIPEP UROC1 COL4A3 TNFRSF11A NR1H4 CAPN3 SLC25A38 TMPO SPTBN1 HFE RFXAP SGPL1 DLK1 DMP1 POMC ASL ADK ANKRD1 ENO3 CACNA1S CPT1A COPA GNAS GABRA3 OTUD5 ARG1 EMD AIP FTCD PYROXD1 MT-TL1 HSPG2 CIITA PNPLA8 WDR4 ERGIC1 ABCC9 ACADVL RINT1 PIGN FOXRED1 LBR KIF23 COL3A1 DNAJC30 NPC2 PEX2 ATP6V1A VPS13A NARS2 APOB MRPL3 ARHGDIA AVPR2 PSTPIP1 PHKG2 SEC24C SHH GATA3 EIF2AK3 PNPLA2 SLC5A5 NSMCE2 DNA2 GLUD1 PSAT1 NAB2 ACTN4 BSCL2 TMTC3 EGF G6PD GALM CD244 PNLIP SCNN1B PIGH SEC61A1 CSF1R LIPT1 IL10 DAAM2 NPHS2 FGF23 PLG SLC22A12 WNK4 COL6A2 DHCR7 KCNE2 CASK KLF1 HLCS TBX19 SRP54 BAAT DAG1 CEP19 SGCG RHD DYRK1B COQ7 ETFDH MTRR DPAGT1 ABCC6 NDUFS2 TCIRG1 HSD11B2 MATR3 ABCC2 SCNN1G C2orf69 CETP MPI EHHADH PEX6 KIT GATC NFS1 MEG3 RET IL6R EPAS1 PEX16 BAG3 ARVCF MYC NOS1AP PSAP ADSS1 RAF1 SARS2 ANKFY1 KCNJ5 PRDX1 POMGNT1 SDHAF2 NR3C2 CTLA4 COG2 CTH PSPH TRMT10C CFHR3 KLHL3 RPIA CLCN2 GTF2IRD1 NUP37 NOS3 POMGNT2 STK11 CNNM2 NDUFS7 FLII C1QBP GIPC1 HNF1B DNMT3B LRP5 UNC13D MTHFR ASS1 NUP160 AP5Z1 LAMB2 PKHD1 POMK PCSK9 EPB42 APP PEX26 SDHB NLRP12 DMD ANLN PLA2G7 TXNRD2 CLCN5 NLRP1 DNAJC19 EPHX2 NEXN TFR2 POLG2 ALAS2 RBM20 ETFA SNX10 LMF1 GLDC APOA5 PRDM16 SMCHD1 IRF6 TRMU ABCA1 KARS1 SLCO1B3 TCF4 C3 CPOX OTC NLRC4 MYMK GATA1 DLST SLC26A3 TJP2 ALAD ADAMTS3 CLDN10 ADCY3 HLA-DQB1 GALT APTX HLA-DPB1 AGXT DNM2 NDUFA6 SEMA4D VMA21 GATM EFL1 LAMA3 SLC2A2 HPD HSD3B2 ACADM FLCN FGFR1 EMP2 TWNK PLVAP HSD17B10 ABCD1 AMT NFKBIL1 PITRM1 SEMA3E BIN1 ALG2 AIFM1 CLDN16 AR DPM2 SYNE1 TIA1 PEX1 ITGA6 LAT2 PHYH AKAP9 NEUROD1 CIDEC GNPTAB PABPN1 PREPL TRIM32 MSTO1 STOX1 CAVIN1 DGCR6 CYP19A1 CD55 STXBP2 TPM3 NEFH LIMK1 GPIHBP1 CP UBA1 PCBD1 TRPM6 CCBE1 HAND2 MMEL1 TMEM126B ADAMTS13 NR0B1 DUOXA2 MST1 PPP1R17 PSEN2 ANK2 HAMP ALG12 GNA11 MEN1 HTT SPATA5 MT-TV DCXR DGUOK CFB MMUT ITPR3 IGFALS CDKN1C NDUFB3 DBT TNFRSF1A SCN5A SARDH PRODH IFNGR1 GNE GAA MUC1 MMADHC CPA1 CDKN2B SVIL CCT5 CRLF1 PLN SMAD4 DHCR24 GALNT3 HINT1 TNFRSF11B MRM2 CHCHD10 SEC63 TRPV4 COG8 SC5D ERCC8 DNAJB11 SLC2A9 TDP1 LIPT2 HMGCL HNRNPA2B1 PTPRO SDHC MKS1 NDUFAF3 SEMA4A CUL3 PFKM WDR19 ATP6V0A4 PSEN1 PEX3 ALDH5A1 ZNF699 STAR NDUFC2 ATPAF2 TPM1 LAMC2 PHEX MAT1A SLC7A7 TFG OSGEP COG4 MRAP BTK FDFT1 THBD CYP3A4 AKT2 GCH1 PDGFRB COL9A3 PIK3C2A RFX5 FKBP14 UBE2A NDUFS8 BCL7B PTEN GCDH PLA2G6 ATM SLC5A1 DSP CACNA1C MDH2 PEX10 SLC6A3 COMT COX5A MT-ND5 EPB41 MYH14 MC4R OCRL CYP27A1 AFP SIL1 TLR3 IL1RN RSPO1 SERAC1 SPR LPIN1 GLUL GHR MPC1 INPP5K JAG1 CASR USB1 CCDC115 TPM2 SLCO2A1 KIF1B PTH BUD23 NLRP3 OSTM1 PSMB8 SLC39A8 PMM2 SLC16A1 IDH2 CCND1 FAN1 TMEM165 NDUFS4 UMOD ETFB CSRP3 FLNC IL36RN ACTC1 NDUFS3 PIK3R5 FH CDKN2C TRAPPC2L FAM111B MYBPC3 TPO MT-TI RAB27A STIM1 NF1 CRYAB WT1 SAR1B KCNJ1 POLR3A MT-TP STAT2 DEAF1 NAGS SYNJ1 SLC30A10 PRSS2 APOA2 LIPC TIMM22 NUP214 SNTA1 GOSR2 TNFSF11 MECP2 QDPR L2HGDH SBDS GCSH CYP2R1 TRIP4 MYF6 SIX3 MAGED2 DLD RBCK1 FARSB SLC34A2 FARSA ZBTB20 C19orf12 DCLRE1C NOTCH3 MT-TW TNFSF15 GATAD1 XRCC4 ELP1 NDUFV1 ITK PDE4D NOS1 LAMP2 TKFC HRAS PEX13 NDUFAF1 ALDOB FRG1 ZPR1 VPS33B ITGA3 ABHD11 ALG8 MMACHC TICAM1 DGCR2 NSD1 ORAI1 POLD1 LMBRD1 FDX2 HLA-DQA1 CAMKMT STX1A SETX BMP2 CA12 KY CORIN IL12RB1 TMEM199 BTNL2 KCNA1 LTBP4 TMEM260 NOTCH2NLC TRPC6 DOLK NBAS B4GALT1 IQSEC2 TRDN HK1 KRAS SKIV2L MCEE KLF11 SCN4B NDUFAF8 COA7 CTNS ALMS1 APPL1 VPS33A SUGCT UFD1 TRIO LDLR NR3C1 IGF1 SCN10A PTH1R PCCB GTF2IRD2 ATP5F1A PCYT1A ALDOA KL TRHR SDHA CFI DUX4 POU2AF1 KCNE3 VPS37D ARHGAP24 BCAT2 ACSF3 PRSS1 ERCC4 CSF2RA PLAU MEF2A GPX1 UROS APOC3 SLC12A1 PDK3 PDHA1 NDUFAF6 TAT UCP2 HMBS FAM20C ALG1 APOA1 PRKAR1A BMPR1A SLC52A1 RFX6 ISCU TBL2 MAD2L2 BCKDHB MOCOS B2M COX16 TBC1D8B TRNT1 OAT LAMA4 SLC22A5 SLC25A26 CALM1 GNAS-AS1 GNMT PUS1 DNMT3A NDUFB9 TREX1 SLC9A3R1 TYMP KLHL41 PRKCD MTMR14 ARNT2 SERPINE1 RNF168 ISCA1 XIAP PAX8 PET117 IL12A SLC25A42 CA5A NDUFAF4 GPHN JMJD1C TSHR IARS1 COX20 DBH NDUFAF2 NDUFV2 SLC29A3 SLC10A1 NSDHL NPPA GYS2 LMNB2 CD2AP COQ8B FN1 HADH SETD2 NDUFAF5 STIL TSFM PLA2G4A HNRNPA1 ABCD4 SLC22A4 TET2 AKR1D1 MDH1 KRT14 MICOS13 SCO2 TBCK NDUFA1 SLC2A3 CC2D2A LTC4S ALG9 NUBPL REN NDUFA13 SLC25A11 PDP1 PGK1 RREB1 AMACR GSR BTD CYC1 WDR73 MT-TN VIPAS39 NFKB2 ATP5F1D MVK MTO1 SLC3A1 FOXP3 LEP LEPR OTULIN PTS KCNQ1 POPDC3 ATAD3A GALE GPR35 PGAP2 TMEM43 APC2 UQCRC2 RASA1 TBX5 SYK GANAB PIEZO2 DGCR8 PGAM2 PAX2 PDSS2 CHD7 TF TBK1 BLK KLHL9 GAPVD1 SLC12A3 PDHB PAX4 MC2R AP1B1 ADA2 IFNG KCNE1 POGLUT1 TKT IFT122 COG6 CD46 LONP1 PEX14 BCKDK MOCS1 GK SLC25A4 TDP2 INVS MT-TL2 ALG14 HCFC1 CNBP COX6A2 NUP93 TALDO1 SH2B1 TTPA SLC17A5 WDR35 DES MT-ATP6 CYP24A1 KRT5 CNOT1 NDUFB11 FHL2 NDUFA11 TG HSD3B7 SMARCAL1 PAFAH1B1 MSMO1 DGAT1 MLXIPL SQOR PGM1 TMPRSS15 NSUN2 PEX11B BAZ1B ODC1 HSD17B4 ASPA PPM1B XDH TIMMDC1 MT-TS1 YARS1 FKBP6 CLDN4 ACAT1 MTR LRP12 HP_ABNORMAL_CEREBROSPINAL_FLUID_METABOLITE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CEREBROSPINAL_FLUID_METABOLITE_CONCENTRATION GLUL KARS1 NGLY1 PDHX PET117 GLYCTK LONP1 ALDH5A1 NDUFA4 RPIA PNPT1 DLAT ASPA PDHA1 AASS HP_HYPOCHROMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOCHROMIA RHD RHAG SLC25A38 UMPS SLC11A2 STEAP3 GLRX5 RHCE HBB HP_ABNORMAL_TISSUE_METABOLITE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TISSUE_METABOLITE_CONCENTRATION PEX10 KHK HSD17B4 PEX6 PEX19 PIGA ACBD5 GLRX5 ARSA MCOLN1 PNPLA2 PEX11B PEX16 PEX5 PEX1 PSAP ABCD1 HBB HEXA PEX3 PEX2 PEX26 PEX12 PEX13 STEAP3 HEXB SLC22A5 GLA PEX14 SLC30A10 CCDC115 BCS1L GM2A SLC51B CP HP_ABNORMAL_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_METABOLISM AMN CYP2R1 KHK HLA-DQB1 ERCC5 SLC2A2 UROS MMAA ALG11 SLC19A1 TTR ALG2 ATP6V0A2 CLCN5 COG2 RASGRP1 STT3A COG1 HCFC1 MMACHC MMADHC ABCD1 IARS1 STT3B TTPA ATP6AP1 ALG8 PKHD1 DPM2 GRM7 CASP10 CAD CUBN DOLK SLC10A1 LMBRD1 FAS SPTBN1 ALG3 ERCC2 FTCD CTNS VDR RPL11 SLC30A10 TMEM199 BAAT DMP1 FGF23 CBLIF SLC34A3 GPR35 SLC35A2 CCDC115 MGAT2 COG8 SBDS PGM1 PTH1R SRP54 SLC52A1 DDOST COG5 LRP5 SLC39A8 ALG6 CYP7A1 ERCC3 ABCD4 MCEE FARSB OTUD5 ACOX2 RNF13 TCF4 DPM3 CYP27B1 GALM MAN1B1 DZIP1L MMAB CBS CCND1 SUCLG1 SSR4 GATA1 MST1 GALNT2 ZNF699 SLC37A4 GUCY2C DPAGT1 TJP2 ALDH4A1 SRD5A3 SIM1 MPI KL PRKCD ATP6V1E1 ATP6AP2 MMP1 COG4 PMM2 COG6 DPM1 DNAJC21 HLA-DQA1 ALG1 MTTP SEMA4D CYP3A4 DLAT ALG13 COL7A1 AGA EFL1 FASLG TAT GALT RFT1 PRDX1 ACSF3 SAR1B RPS10 ATP6V1A MAGT1 MMUT BCO1 EDEM3 MTHFD1 MTRR OCRL SLC51B FKTN SUCLA2 MTR ALDOB ENPP1 ERCC4 HP_ABNORMAL_IMMUNE_SYSTEM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_IMMUNE_SYSTEM_MORPHOLOGY PSENEN RNU4ATAC POT1 RAG1 BUB1B LACC1 IFNGR1 TNNI3 TREX1 KRAS CPA1 ABHD5 SH2B3 PLN NTRK1 CARD9 TNNT2 RTEL1 CBL TERT ARHGAP26 GATA1 FLT3 FKTN CD247 MAP2K1 TET2 TPP2 AGA IRF2BP2 IL2RG IFIH1 SAMHD1 PDGFRB COG4 SBDS BACH2 BCOR STAT3 RPS27 GFI1 ERCC4 SLC46A1 ENG SRP54 GATA2 CHIC2 MYH6 IRAK4 CHEK2 MMAB PARN MPL PSEN1 ELANE ITGB2 ZNF699 TNNC1 LPP LCK JAK2 IKZF3 WAS TPM1 AK2 ERCC2 BRCA1 RPS29 SLC7A7 RPS10 GLB1 TRAF3 BTK PCCA RFX5 CD79A RNASEH2B LIPA SETBP1 CSF3R MDM2 UBE2A PML RPS24 NFKB1 PIGA ATM CEBPE DSP RECQL4 NFKB2 BUB1 SLC35C1 SOCS1 SLC19A1 NEU1 BRCA2 IGLL1 FAT4 CDC40 MPLKIP FBXL4 JAK3 FUCA1 TLR3 IL1RN SPINK1 HLA-DPB1 FANCG NHEJ1 GLI1 ITCH PACS2 DOCK8 LIG4 LYST BCL10 USB1 TINF2 PSMB9 UNC93B1 CD27 TARS1 RAG2 NLRP3 OSTM1 MEFV LPIN2 MLH1 SGCD MDM4 PMM2 IGHM APC TP53 RIPK1 FANCB DLL4 RAC2 BCL11B HBB BRD4 FOXN1 SMPD1 HAVCR2 CLPB SMAD4 CEBPA FANCE CSRP3 CTLA4 IL36RN TCAP EXTL3 ACTC1 PRKAR1A RPL26 NOTCH1 RPS17 RUNX1 AMN FCGR3A MYBPC3 VPS13B APOE TTC7A IL10RB FAS RAB27A MLLT10 BCR G6PC3 CXCR4 PNP RFXAP IL2RA CASR ASXL1 RAD51C RB1 RPS28 SALL4 ATRX VPS45 BUB3 CD19 MYD88 RPL18 STAT2 ACD DNMT3B SLC27A4 DYNC2LI1 CD3D CD3E KIT HELLS ATP6AP1 PRSS2 ICOS CD81 PRF1 CD3G PTPRC FANCA RFXANK STAT4 MSH2 PTEN CD8A SLX4 FCGR3B TAF1A VCL RRAS2 RARA MGAT2 CD70 NCF2 CARD11 RNF113A BLM PIGL CD4 MYSM1 DNMT3A STING1 CDCA7 ACP5 CAP2 CTPS1 EPG5 IL21 DCLRE1C DOCK2 CARMIL2 ERCC3 SLC37A4 UNC119 CFTR RPS7 GATAD1 MVK TAFAZZIN IKBKG RPS26 DNAJC21 AP3B1 FASLG NCF4 DNASE1 IKZF1 UBE2T TTC37 SF3B1 PSMB4 CTRC CTSC ITK RAD51 SCARB2 IL7R CASP8 NUMA1 RBM8A VANGL1 TGFB1 DSG2 SP110 PGM3 ZPR1 PRTN3 RNASEH2C MMAA NCF1 RASGRP1 ZNF341 TCN2 HLA-B SMARCAL1 EVC AP3D1 RMRP DKC1 MCM10 MMACHC GSS RNASEH2A ZBTB24 TICAM1 NSD1 CASP10 LMBRD1 FDX2 FANCI CR2 TAL1 DDR2 BTNL2 SAMD9 ABCB4 FANCD2 RPS19 FANCL NUTM1 ABL1 TCF3 DOLK IL6ST NCKAP1L SPP1 LMNA CXCR2 BLOC1S6 SKIV2L RPL11 TNFSF12 WIPF1 VPS33A THPO SCN10A STX11 CBFB WRAP53 PCCB IL37 PPIL1 LAMTOR2 ADA DOCK6 ANAPC1 F13B TERC PRSS1 TTN MMUT NF1 SH3GL1 PPCS FCHO1 UROS ADA2 HLA-DPA1 TNFRSF13B ZAP70 TNFAIP3 CUBN F13A1 IVNS1ABP TMPO FIP1L1 EFL1 NHP2 PIK3R1 CYP26C1 SGPL1 DMP1 CAPN3 LAT ANKRD1 RFWD3 MCM4 MAD2L2 CIITA CYBB SAMD9L PIK3CD OTUD5 MYH7 FTCD RPS20 NPC1 ABCC9 PALLD WDR1 LAMA4 FCGR2A HLA-DRB1 CORO1A ACTN2 SLC35A1 NPC2 ETV6 CDKN2A ADH5 SRSF2 ADAR PRKCD GTF2H5 ENPP1 PSTPIP1 XIAP LCP2 RPL27 EIF2AK3 LMNB2 SREBF1 MAGT1 STAT1 MYPN G6PD SLC29A3 MECOM SEC61A1 NPM1 SCN9A FOXP3 ZBTB16 DDX41 NSUN2 FGF23 RPL15 IRAK1 SETD2 FMO3 CASK IKBKB SGCG CYBA SLC17A5 MTRR ABCD4 IL17RA EVC2 CREBBP NBN GTF2E2 XRCC4 SDHA LRBA RPL31 BAX HAX1 STAT5B TONSL MS4A1 IL6R FANCF NUP214 CD40 CRYAB MYC MSN CTC1 RAF1 SARS2 PRDX1 NSMCE3 LDB3 LZTR1 EP300 CALR ERBB3 PTPN11 PALB2 IL7 MYH9 BAG3 NRAS RPS15A PIK3CA RBPJ STK4 EOGT KIF11 KNSTRN TYROBP KLHDC8B IVD UNC13D RPL35 MPEG1 RPL35A LEP SPINK5 LEPR PKHD1 OTULIN ACVRL1 FANCC NLRP12 STXBP2 TXNRD2 NABP1 TRNT1 NLRP1 TSR2 APC2 NEXN TFR2 PICALM RBM20 LBR SYK PDGFRA PRDM16 CLCN7 TAL2 CHD7 ANKRD26 XRCC2 TBX2 TREM2 TBK1 CYBC1 TTI2 NLRC4 DLX3 RPL5 TNFRSF1B IFNG NOP10 TBL1XR1 LRRC8A ALAD ADAMTS3 ARPC1B GNB1 CD28 ERCC6L2 BRAF SCN11A PHEX GPI RPS14 GINS1 TDP2 MTHFD1 TCIRG1 CD40LG IL10RA FCGR2B ASAH1 SEMA3E GBA SMARCD2 SH2D1A JAGN1 DES TFRC CD79B TRAC RABL3 CLN3 FUT8 MAN2B1 FHL2 JAK1 STS SCN5A FERMT3 HTRA2 TBXAS1 HMGCL ARHGAP31 DMD BLNK CCBE1 HAND2 PNPLA2 CEP57 FIBP PTPN22 HYOU1 MNX1 PSEN2 TNFRSF13C ALG12 ATP6AP2 TRIP13 ACAT1 BRIP1 FANCM TNFRSF1A HP_INCREASED_BLOOD_PRESSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_BLOOD_PRESSURE PPARG EXT2 AGTR1 SDHD GTF2I NF1 NEUROG3 LEMD3 CFH ENG COL3A1 LRP6 HLA-DPA1 VHL LMNA BBS1 ARL6 TJP2 MUC1 MT-CO2 CDKN2B FBN1 MT-TV GNAS COL4A3 MT-TK GPR101 TP53 PKHD1 CBL SMAD4 STN1 ERCC8 EGFR HMBS TGFB2 HFE BANF1 TNFRSF11B RPGRIP1L ABCC6 TRIM28 ABCG5 AIP SDHB SCN2B HGD MGP GNB3 DNAJB11 COL4A4 NOTCH1 TBL2 ACVRL1 HEY2 NPHP4 MYLK TMEM70 GUCY1A1 HLA-B SDHC FIG4 BBS9 MT-TL1 TSC1 CYP17A1 CUL3 MPL TMEM67 ADA2 NFIX CDH23 TSC2 SCAPER LARS2 RET TRAF3IP1 VAC14 ALMS1 CEP290 MT-TW LRIG2 NOD2 GLIS3 YY1AP1 HLA-DRB1 TRPC6 APRT CACNA1D MAX OSGEP NCF1 THBD TGFBR3 MT-TE INF2 TET2 HPSE2 DNAJC30 PPOX SCNN1A DNMT3A BMPR2 ITGA8 TREX1 WT1 MT-TC POU6F2 ABCD3 NR3C2 PKD2 TNFRSF11A BBIP1 FGFR2 BCL7B DCDC2 PIGA MDH2 BRCC3 SEC24C CPOX LZTFL1 IL12A COMT NR3C1 FLT1 JMJD1C SLC2A10 MC4R AVPR2 MYH11 BSCL2 F5 CDKN1B MT-TF ANGPTL6 ELN SCNN1B EIF4H IRF5 INPP5E ITCH RUNX1 TRIP13 SLC30A10 SHPK WNK4 FN1 FUZ LDLRAP1 ACTA2 FMO3 SLC37A4 IDUA KIF1B NOS3 KCTD1 BUD23 SUGCT PDE8B APOA1 CEP19 VANGL1 CFHR3 KCNJ5 DGUOK HIRA BNC2 MT-TS1 CLDN3 DYRK1B COQ7 CD2AP MTRR TBX1 KCNMB1 CC2D2A IQCB1 HSD11B2 MYMK INVS XYLT2 SCNN1G DLL4 MPI CACNA1H CCN2 DZIP1L SDCCAG8 CFAP418 ALG9 XYLT1 WDR19 EPAS1 FH CDKN2C ARVCF PRKAR1A GDF2 PAM16 CDKN1A CLDN1 SLC25A11 SDHAF2 CAV1 RREB1 G6PC1 ERCC6 TMEM270 BBS4 BBS2 TRIM32 CTLA4 ALX4 MMP2 ASXL1 CFHR1 ENPP1 NPHP1 ARHGAP31 KLHL3 ARMC5 RBPJ EOGT CLCN2 GTF2IRD1 STAT2 PHF21A FOXE3 NPHP3 OFD1 BBS12 GCH1 APOB CYP11B1 IFT27 LYZ MKS1 SH2B3 NOTCH2 IDS PCSK9 GLA TGFB3 KRT8 MTTP SRSF2 TMEM127 CCDC28B GPR35 PDE3A BBS5 BBS7 JAK2 WNK1 METTL27 GANAB LIPA ADD1 MAFB MLX MDM2 PLIN1 IFT74 NOTCH3 NSMCE2 FARSB USP8 ACP5 TCF4 C3 EDA MT-ND6 ACTG2 NFU1 MT-ND5 CBS LOX DLST TNFSF15 ADAMTSL4 ECE1 ZMPSTE24 SMAD6 THSD1 MT-TQ CYP21A2 SPRY2 PTGIS CD46 HLA-DPB1 RFC2 ELP1 SEMA4D PIGM MFAP5 IFT172 GBE1 MKKS FGA SP110 MT-CO1 TGFBR2 HBB CFHR2 PRTN3 ABCB6 FMR1 WRN CLIP2 CYP3A5 SMARCAL1 TNPO3 LMX1B CALR ABHD11 PKD1 WDR35 PDE11A ERCC4 NDUFAF6 MYH7 LAT2 STX1A NKX2-5 CORIN IL12RB1 WDPCP BTNL2 SERPINA6 ABCB4 SLC35A2 STOX1 MLXIPL PRKACA IL12B TGFBR1 CCR6 GATA5 KRT18 STAT1 LIMK1 MMP14 BAZ1B MT-ND1 CEP164 SMAD2 PRKG1 GBA BICC1 MMEL1 UFD1 COL4A5 LDLR MST1 XPNPEP3 CYP11B2 MAT2A CCND1 REST GTF2IRD2 H19 GP1BB TMEM237 MT-CYB PTPN22 B2M SDHA SMAD3 CFI TTC8 POU3F4 FKBP6 POR POU2AF1 MEN1 CLDN4 DIS3L2 DOCK6 VPS37D ACTN4 GJA1 ABCG8 CFB EDA2R MT-TS2 GPC3 SPIB ACAT1 AGT BRCA2 MT-CO3 MEF2A BBS10 HP_ABNORMAL_GRANULOCYTE_COUNT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GRANULOCYTE_COUNT RNU4ATAC NRAS RPS28 RPS15A RAG1 ATRX VPS45 GFI1 ADA2 STK4 RPL18 SLC27A4 KRAS KIT CD79A CARD9 ZAP70 UNC13D RPL35 SBDS MEFV FOXP3 CBL CLPB CUBN RPL35A FAS SPINK5 FANCA FIP1L1 RFXANK OTULIN DCLRE1C EFL1 CXCR4 TPP2 GATA1 PGM3 EXTL3 FANCC SRSF2 CD247 STXBP2 RFXAP FCGR3B SLC46A1 MMUT AGA NABP1 ICOS IL7R RAC2 NLRP1 TSR2 CAPN3 PDGFRB COG4 BACH2 TFR2 RARA PRF1 LAMTOR2 RFX5 LBR CARD11 BCOR RNF113A PDGFRA STAT3 RPS27 MAD2L2 ASXL1 CIITA PIK3CD SRP54 TBK1 STX11 IRAK4 RPS20 MMAB PNP RPL5 PIK3R1 ELANE IFNG DOCK8 TBL1XR1 WAS ERCC3 LRRC8A SLC37A4 CHD7 WDR1 RPS7 ERCC2 RAG2 MVK HLA-DRB1 RPS29 LMBRD1 TAFAZZIN CD3E RPS10 IKBKG RPS26 DNAJC21 TRAF3 BTK AP3B1 FASLG RPL26 PCCA TET2 SF3B1 SLC35A1 ETV6 GINS1 CSF3R TDP2 UBE2A TCIRG1 NUMA1 RBM8A CD40LG ADA GTF2H5 AK2 PML IRF2BP2 RPS24 CASP10 RECQL4 RPL27 FANCI SLC35C1 MMAA EIF2AK3 ZNF341 GATA2 SREBF1 TCN2 SMARCD2 SH2D1A RASGRP1 SMARCAL1 IGLL1 MMACHC AP3D1 CDC40 MPLKIP RMRP FBXL4 SAMD9L TLR3 IL1RN JAGN1 GSS TFRC CD79B TICAM1 FANCG MECOM TRAC SEC61A1 FDX2 FUT8 VPS13B ITCH RUNX1 ZBTB16 RPL11 PACS2 JAK1 BTNL2 RPL15 LYST FANCD2 USB1 RPS19 FMO3 SAMD9 UNC93B1 TARS1 HTRA2 IL6ST STAT1 NPM1 IL2RG MDM4 CXCR2 BCL11B MTRR IGHM ABCD4 MYSM1 BLNK WIPF1 VPS33A GTF2E2 FIBP HYOU1 LRBA RPL31 HAX1 ACP5 STAT5B FANCE PCCB IL36RN TONSL PRKAR1A PPIL1 PRKCD RPS17 CD40 AMN MSN TCF3 TERC ANAPC1 TERT LIG4 PRDX1 CD3D RAB27A NLRP3 XIAP G6PC3 HP_REDUCED_FORCED_VITAL_CAPACITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_FORCED_VITAL_CAPACITY MCIDAS SFTPC RYR1 TPM3 UNC45B TPM2 RTEL1 SLC25A21 BAG3 NEK10 TGFB1 FKRP CSF2RA CRPPA FCGR2A COL6A2 PARN STK36 MYH7 CFTR ACTA1 SELENON LRP12 HP_REDUCED_FORCED_EXPIRATORY_VOLUME_IN_ONE_SECOND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_FORCED_EXPIRATORY_VOLUME_IN_ONE_SECOND FCGR2A PARN STK36 CFTR RTEL1 ITCH NEK10 TGFB1 CSF2RA HP_ABNORMAL_GROWTH_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GROWTH_HORMONE_LEVEL DLL1 THOC2 IARS2 SLCO2A1 HERC2 PTCH1 EIF2S3 NFKB2 ZIC2 LHX3 CDKN2B KMT2A RNPC3 SOX3 HESX1 GNAS GPR101 GRM7 TDGF1 FGF8 STAT5B AKT1 GLI3 BAP1 LHX4 DISP1 STX16 SIX3 KANSL1 SNRPN PRKAR1A TP63 POMC AIP FLNB SIN3A PIK3CA PITX2 FGFR1 RRAS2 SBDS POU1F1 RBM28 GAS1 DCAF17 FOXH1 TMEM67 CHD7 PDGFB ZNF148 KATNIP GLI2 NODAL TBX2 STAG2 MAGEL2 PROP1 ACP5 MEN1 TMCO1 NDN WDR4 CDH23 SHH MADD ALMS1 RFWD3 MARS2 SRD5A3 TRAF7 YY1 OCA2 DNAJC21 FOXA2 POLE TGIF1 SLC7A7 EFL1 CDKN1B IGF2 SUFU NKX2-1 PDE4D CDON ARNT2 GH1 ADNP BRCC3 FANCI GMNN SMC1A SEMA3E FANCF DMPK GHRHR SMARCB1 TBCE VPS13B PNPLA6 AFF4 NF2 SMARCE1 PREPL SRP54 BTK SNORD116-1 WASHC5 SMO ADAT3 PMM2 TERT POLR3A POLR3GL TBCK OTX2 PWRN1 SLC29A3 MKRN3 PWAR1 ESCO2 DYRK1A GHSR HPGD POU3F4 CDKN2C CDKN1A NPAP1 CEP57 CDKN1C SNORD115-1 LEPR PCSK1 HP_ACIDEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACIDEMIA ETFDH ABCD4 PRDX1 MCEE ACSF3 ETFA MMACHC MMUT MMAA ETFB PAH DNAJC19 SUCLA2 GCDH LMBRD1 SUGCT HCFC1 IDH2 MMAB MMADHC L2HGDH SUCLG1 HP_PERIVENTRICULAR_NODULAR_HETEROTOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIVENTRICULAR_NODULAR_HETEROTOPIA ZMIZ1 CPLX1 DCHS1 VPS35L TBC1D24 ZNF292 MAP1B ZSWIM6 ERMARD ARF1 NEDD4L ARFGEF2 INTS8 FAT4 HP_SUBCORTICAL_HETEROTOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBCORTICAL_HETEROTOPIA NDE1 EML1 DCHS1 KATNB1 PAFAH1B1 LAMB1 KIF2A COL4A2 TUBG1 CEP85L TUBGCP2 FAT4 CRPPA HP_SUBCORTICAL_BAND_HETEROTOPIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBCORTICAL_BAND_HETEROTOPIA PAFAH1B1 LAMB1 KIF2A TUBG1 EML1 DCHS1 CEP85L TUBGCP2 FAT4 HP_ABNORMAL_C_REACTIVE_PROTEIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_C_REACTIVE_PROTEIN_LEVEL SLC22A4 STING1 PRTN3 NFKBIL1 TBK1 HLA-DPA1 C2orf69 NLRC4 MVK CPA1 HLA-DRB1 PRSS2 MEFV TLR3 IL1RN SPINK1 TICAM1 CD244 IL6 CIITA CFTR IL36RN NLRP3 ADA2 IL37 IL6R OTULIN PTPN22 IL10 TRAF3 HLA-DPB1 NLRP12 NLRP1 CTRC UNC93B1 ITK PRSS1 SYK UBA1 CTLA4 PRKCD MIF PSMB8 COPA LACC1 CASR TNFRSF1A PSTPIP1 HP_PULMONARY_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_CYST PTEN TERC MUC5B AKT1 SFTPA2 TTC7A TERT RTEL1 PRKAR1A ATP11A STN1 SFTPA1 SFTPC FAM13A PARN SREBF1 YARS1 DSP DPP9 ABCA3 FLCN HP_ABNORMAL_PULSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PULSE XYLT1 XYLT2 ABCC6 ENPP1 RASA1 HP_COILED_SPERM_FLAGELLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COILED_SPERM_FLAGELLA DNAH2 CFAP251 ARMC2 DNAH8 CFAP44 CFAP43 CFAP58 CFAP91 CFAP69 CFAP65 CATIP DNAH17 SPEF2 FSIP2 QRICH2 TTC29 DNAH10 CFAP47 DNAH1 HP_TAPERED_SPERM_HEAD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TAPERED_SPERM_HEAD CATIP DNAH17 ARMC2 CFAP70 TTC29 CFAP69 ACTL9 HP_ABNORMAL_RENAL_INSTERSTITIAL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_INSTERSTITIAL_MORPHOLOGY BAZ1B RPGRIP1L GTF2I NPHP1 CLCNKB ALMS1 GTF2IRD1 SLC30A9 CLIP2 CLCN5 PTPRO MUC1 COQ2 ABHD11 WDR19 FAN1 BSND NPHP3 CEP83 CPT2 ANTXR1 ACP5 ELN SLC37A4 FOXP3 NPHP4 TRAF3IP1 GTF2IRD2 NDUFAF6 EIF4H HLA-DRB1 LAT2 IFT122 CTNS STX1A NCF1 RFC2 REN PUS3 FKBP6 BTNL2 PKHD1 CLDN4 SLC7A7 DNAJC30 VPS37D MLXIPL DPH1 FOXC2 GBE1 BUD23 MMUT TMEM270 INVS METTL27 BCL7B SLC12A3 TBL2 BCS1L MRPL3 LIMK1 CLDN3 PDSS2 HP_HAND_APRAXIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAND_APRAXIA GABBR2 PLP1 NTNG1 CDKL5 MECP2 STXBP1 SMC1A HP_SKEWFOOT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKEWFOOT SLC1A3 NDRG1 SLC26A2 CACNA1A ATP1A3 ATP1A2 HP_ELEVATED_LACTATE_PYRUVATE_RATIO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_LACTATE_PYRUVATE_RATIO NDUFS4 SUCLG1 NDUFB10 MRPL3 GFM1 HP_STATUS_EPILEPTICUS_WITH_PROMINENT_MOTOR_SYMPTOMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_STATUS_EPILEPTICUS_WITH_PROMINENT_MOTOR_SYMPTOMS POLG GABRG2 VAMP2 TWNK ASAH1 STXBP1 PEX5 GABRA1 SCN2A MRM2 KCTD7 SCN1A SCN9A SCN1B PCDH19 PDE2A HP_FOCAL_MOTOR_STATUS_EPILEPTICUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_MOTOR_STATUS_EPILEPTICUS SCN1A POLG GABRG2 TWNK SCN9A SCN1B STXBP1 GABRA1 PCDH19 PDE2A SCN2A MRM2 HP_NON_CONVULSIVE_STATUS_EPILEPTICUS_WITHOUT_COMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NON_CONVULSIVE_STATUS_EPILEPTICUS_WITHOUT_COMA SCN1A STX1B ADGRV1 CDKN1B ODC1 CDKN2C HCN1 SCN1B SCN9A GABRG2 MEN1 CDKN1A GRIN2A SCN2A GABRD CDKN2B HP_GENERALIZED_ONSET_MOTOR_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_ONSET_MOTOR_SEIZURE GAD1 SEPSECS CUX2 RPL10 SLC25A15 PCDH19 SATB1 PIGA BUB1B NHLRC1 SCN9A DNM1L GRN KNSTRN GRIN2A MT-TP NDE1 SLC25A22 DPM1 ASAH1 MT-TK SCN1A PCDH12 GABBR2 STXBP1 ADGRG1 PIGQ MTHFR CLTC ADGRV1 KCNQ5 NBEA HIVEP2 IER3IP1 STX1B MT-ND3 KDM5B SCN1B CPLX1 CHD2 SCN8A GABRG2 PCYT2 CILK1 NEXMIF MT-ND1 CDH15 CAMK2A ARHGEF9 DHDDS CACNA1A GBA APC2 GABRD SCN2A CDKL5 MT-ND4 KCNQ2 PLAGL1 CARS2 AFG3L2 KCNA1 COQ5 SIK1 CSNK2B MT-TF SLC6A1 PIGP KATNB1 ZMYND11 TRPM3 MAPK10 MT-TH TRAPPC9 MYT1L MT-ND2 KARS1 NGLY1 GNAO1 KCTD7 GALC SMS CASK NDUFA1 CACNB4 MT-TW ALDH5A1 DOCK7 GAMT DPM2 SETD1B MED13 GLB1 CUX1 PTEN HYMAI SYNGAP1 GABRA1 DNM1 AP2M1 LNPK TSEN2 PRRT2 ACSF3 KCNT2 MT-ND5 ELOVL4 KCNQ3 MFSD8 JRK DLL1 SLC12A5 OPHN1 DMXL2 PURA TBC1D24 MT-RNR1 MBD5 TRIM8 PRICKLE1 UBE3A SLC9A6 EPM2A PIK3CD SDHAF1 CHAMP1 EPB41L1 MT-ATP6 DEAF1 PIGT NSD1 BRSK2 GCK NTNG1 NEUROD2 GABRA5 MT-TQ CLCN2 TANGO2 CAMK2B PNKP CIC NEU1 DPAGT1 CACNG2 SETD2 TAOK1 PAFAH1B1 KCNJ11 TBCD EFHC1 PDX1 KIRREL3 SLC2A1 STAT3 ASH1L RAB11A COX8A MT-TL1 MT-TS1 NUS1 HCN2 SMC1A GABRB3 EEF1A2 KIF1A HACE1 PRDM8 ARX GRIN2B PSAP INS PTRH2 HCN1 SDHB GRIN1 VPS53 SET MT-ND6 MECP2 NARS1 TCF4 DYRK1A MED12L CLN8 BRAT1 TSEN15 TRIT1 SDHA DOCK8 MT-TS2 ABCC8 SPATA5 MT-TV SAMD12 PPP3CA MT-TI PHGDH ALDH7A1 TSEN54 MBOAT7 EXOC8 TMX2 COG2 DYNC1H1 TSEN34 BTD SDHD HP_FOCAL_NON_MOTOR_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOCAL_NON_MOTOR_SEIZURE CACNA1A SCN1A STXBP1 NGLY1 NHLRC1 EEF1A2 MBD5 LGI1 PRRT2 KIF1A PDE2A PACS1 GRIN2B EPM2A PI4KA CHAMP1 EPB41L1 DEAF1 BRSK2 RELN GRIN1 CLTC DEPDC5 SET KCNQ5 NBEA GAL HIVEP2 CAMK2B ADGRG1 SETD1B TCF4 KDM5B NPRL3 GLI3 SRPX2 MED12L CUX1 CIC KCNQ2 DOCK8 CDH15 CACNG2 TAOK1 KIRREL3 PPP3CA TREX1 CNTN2 KCNQ3 PHGDH NPRL2 ASH1L SYNGAP1 RAB11A MICAL1 ATP1A2 CSNK2B KCNA1 ZMYND11 TRPM3 DYNC1H1 DLL1 SCN8A MYT1L CAMK2A HP_TONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TONIC_SEIZURE CUX2 GABRG2 RPL10 SCN1A DMXL2 PURA SATB1 SCN2A MBD5 TRIM8 PTPN23 DPM1 PCDH19 SCN1B CHAMP1 EPB41L1 GRIA2 DEAF1 PIGT BRSK2 PIGQ CLTC ADGRV1 NEUROD2 GABRA5 KCNQ5 NBEA TANGO2 HIVEP2 CAMK2B PNKP KDM5B CIC STXBP1 SCN8A NEXMIF CDH15 ARHGEF9 CACNG2 TAOK1 CACNA1A PAFAH1B1 TBCD GRIN2A KIRREL3 SQOR KCNQ2 SLC25A22 AKT3 ASH1L SYNGAP1 KCNA1 RAB11A CHD2 SIK1 CSNK2B PIGP ZMYND11 TRPM3 MAPK10 HCN2 MYT1L GNAO1 KARS1 NGLY1 GABRB3 EEF1A2 PSAP CLCN4 PHACTR1 KIF1A CDKL5 CUL3 CASK ARX GRIN2B MECP2 PIK3CA GRIN1 DOCK7 VPS53 SET EN1 SETD1B TCF4 KCNQ3 MED12L CUX1 GABRA1 DNM1 DOCK8 SCN9A PRRT2 NSF PPP3CA COG2 DYNC1H1 DLL1 CAMK2A CEP85L HP_MYOCLONIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOCLONIC_SEIZURE GAD1 SEPSECS CUX2 SLC25A15 PCDH19 SATB1 PIGA BUB1B NHLRC1 SCN9A DNM1L PTPN23 GRN KNSTRN GRIN2A MT-TP NDE1 SLC25A22 DPM1 SLC13A5 ASAH1 MT-TK SCN1A PCDH12 GABBR2 STXBP1 ADGRG1 MTHFR CLTC KCNQ5 HEXB NBEA HIVEP2 APC2 IER3IP1 STX1B MT-ND3 KDM5B ADGRV1 RTN4IP1 CPLX1 CHD2 GABRG2 CILK1 NEXMIF NCDN MT-ND1 CDH15 CAMK2A DHDDS CACNA1A GBA GABRD CDKL5 MT-ND4 PLAGL1 CARS2 AFG3L2 SIK1 CSNK2B MT-TF SLC6A1 ZMYND11 TRPM3 MAPK10 MT-TH TRAPPC9 MYT1L MT-ND2 NGLY1 KCTD7 GALC SMS SETD1B NDUFA1 MT-TW ALDH5A1 GAMT DPM2 CACNA1D PLPBP GLB1 CUX1 PTEN HYMAI SYNGAP1 GABRA1 DNM1 AP2M1 LNPK TSEN2 PIGQ KCNT2 MT-ND5 ELOVL4 MFSD8 KCNJ11 ALDH7A1 TGFB1 DLL1 SLC12A5 OPHN1 CEP85L PPP1R21 TBC1D24 MT-RNR1 SCN2A MBD5 PRICKLE1 DMXL2 SCN1B AP3D1 CDC40 EPM2A PIK3CD GPAA1 SDHAF1 CHAMP1 EPB41L1 MT-ATP6 DEAF1 PIGT NSD1 BRSK2 GCK TMEM231 NTNG1 GABRA5 MT-TQ CLCN2 TANGO2 CAMK2B CIC NEU1 DPAGT1 CACNG2 SETD2 TAOK1 PAFAH1B1 PDX1 KIRREL3 SLC2A1 STAT3 ASH1L RAB11A COX8A MT-TL1 MT-TS1 NUS1 PYCR2 SMC1A GABRB3 CLN5 EEF1A2 MICOS13 EFHC1 KIF1A HACE1 PRDM8 GRIN2B CAMTA1 INS EXOC7 PTRH2 HCN1 SDHB GRIN1 VPS53 SET MT-ND6 MECP2 NARS1 TCF4 EXTL3 PPIL1 DYRK1A ARX MED12L CLN8 BRAT1 TSEN15 TRIT1 SDHA DOCK8 MT-TS2 ABCC8 SPATA5 MT-TV SAMD12 DALRD3 PPP3CA MT-TI PHGDH TSEN54 MBOAT7 EXOC8 PSAP DYNC1H1 TSEN34 KCNMA1 BTD SDHD HP_INFECTION_RELATED_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFECTION_RELATED_SEIZURE SEPSECS GABRG2 RPL10 LMNB1 DMXL2 HERC2 TBC1D24 SLC35C1 SCN2A TRIM8 FAR1 SCN9A AP2M1 GABRA1 PCDH19 SCN1B DYRK1A GALC SCN1A EFHC1 GRIA2 PIGQ ADGRV1 NEUROD2 NFIX KMT5B WAC SPTBN1 PNKP KCNQ3 STX1B NPRL3 GABRD STXBP1 CHD2 SCN8A CILK1 ADORA2A GLS RSRC1 MBD5 GRIN2A SLC2A1 PTH1R EMC10 KCNQ2 KCNA1 DEPDC5 SLC6A1 PIGP HCN2 APP AUH AASS CACNA1A WDR26 GNAO1 KCTD7 GPT2 CDKL5 PDE2A TBCD CASK ARX GABRB3 ERLIN2 MAF CACNB4 CPLX1 CACNA1H HCN1 CLCN2 RNU12 CPA6 SETD5 ALDH4A1 PEPD SIK1 MVK JRK COG4 KCNJ6 DPYD TSEN15 ACADM SYNGAP1 MT-TK SRPX2 PRRT2 HS6ST2 TSEN2 NEXMIF VPS11 TSEN54 MBOAT7 NPRL2 ATP1A2 AP4S1 TSEN34 SLC12A5 POGZ SLC25A22 CNKSR2 CEP85L SLC44A1 HP_ABNORMAL_URINE_PH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_PH NDUFS4 CPOX ACAD8 HPD PET117 SLC25A20 OXCT1 UROS BTD HGD MMAA MT-ND5 TCN2 HLCS PEX1 HCFC1 MMACHC HOGA1 MMADHC MVK AGXT TAT DHTKD1 UROC1 PCCA MT-ATP6 CPT2 SLC25A1 MCCC2 LMBRD1 HMBS SUCLG1 ETHE1 MT-ND3 MPC1 PCCB MT-ND1 LDHD HADH MT-TK L2HGDH SDHD SUCLA2 MT-ND4 SLC52A1 SUGCT ETFA SCO1 MCCC1 HMGCL ETFDH KIF1B ABCD4 MT-ND2 MCEE NDUFB10 GCDH SLC25A21 ACADS MT-TL1 GATM FLAD1 SLC25A19 IDH2 MMAB NADK2 POLG ACADVL GATA1 COX16 MT-TW ALDH5A1 ETFB SLC25A4 ALAD MT-ND6 NFS1 D2HGDH MLYCD TAFAZZIN SLC52A2 ACAD9 GRHPR ACADM SLC26A1 PPOX RET PDP1 ACSF3 MT-TV PRDX1 MMUT DNAJC19 MRPS2 CD320 HP_ABNORMAL_BRONCHOALVEOLAR_LAVAGE_FLUID_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BRONCHOALVEOLAR_LAVAGE_FLUID_MORPHOLOGY NKX2-1 SFTPC SLC7A7 BTNL2 HLA-DRB1 TERT SFTPA2 SFTPB CSF2RB CSF2RA MARS1 MUC5B COPA ABCA3 HP_ABNORMAL_CELLULAR_COMPOSITION_OF_BRONCHOALVEOLAR_FLUID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CELLULAR_COMPOSITION_OF_BRONCHOALVEOLAR_FLUID NKX2-1 BTNL2 MUC5B TERT COPA SFTPA2 HLA-DRB1 SFTPC HP_ELEVATED_BRONCHOALVEOLAR_LAVAGE_FLUID_NEUTROPHIL_PROPORTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_BRONCHOALVEOLAR_LAVAGE_FLUID_NEUTROPHIL_PROPORTION NKX2-1 MUC5B TERT SFTPA2 SFTPC HP_PERSISTENT_HEAD_LAG http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERSISTENT_HEAD_LAG SUCLG1 MECP2 FARSB EN1 COX10 MICOS13 NONO UGP2 SPTBN1 HP_DELAYED_ABILITY_TO_ROLL_OVER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DELAYED_ABILITY_TO_ROLL_OVER MRPS25 NDUFA8 VPS35L MECP2 SON PGAP1 YIF1B HP_INCREASED_FECAL_PORPHYRIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_FECAL_PORPHYRIN CPOX ALAD GATA1 UROD UROS HP_MALE_REPRODUCTIVE_SYSTEM_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALE_REPRODUCTIVE_SYSTEM_NEOPLASM GATA4 RAD51D GREM1 AKT1 RNF43 KEAP1 TP53 PALB2 FLI1 CHEK2 MAD1L1 NAB2 AR STAT6 PTEN NBN CDC73 BARD1 SOX9 WT1 MC2R DICER1 AAGAB STAR CDH1 APC NR5A1 BMPR1A CYP11B1 ZFPM2 COL14A1 WWOX STK11 TXNRD2 KLF6 RAD50 RAD51 MRAP PRKAR1A RAD51C BRCA1 EWSR1 STS KANSL1 MAP3K1 ZFHX3 NR0B1 CDKN1B IGF2 DHX37 RNASEL EPHB2 CDKN2A MDM2 MXI1 BRCA2 SRY VAMP7 DMRT3 MRE11 NNT BRIP1 HP_FEMALE_REPRODUCTIVE_SYSTEM_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEMALE_REPRODUCTIVE_SYSTEM_NEOPLASM PIK3CA MLH1 SRC GREM1 AURKA SDHC BMPR1A MSH2 SDHB BUB3 BUB1B BUB1 APC FLI1 MSH3 PTEN CHEK2 BAX FLCN SEMA4A NAB2 SEC23B TP53 STAT6 CDC73 SLC6A17 CEP57 DMPK RPS20 POLD1 FH PTPN12 AKT1 MLH3 FGFR3 COL4A6 STK11 TLR2 POLE DCC PTPRJ RAD54B PRKAR1A NTHL1 COL4A5 DOCK8 CCND1 CDH1 TRIP13 CDKN1B SRY DLC1 MCC MSH6 NRAS PLA2G2A USF3 SDHD CTNNB1 EP300 PDGFRL CXCR4 PMS2 AXIN2 BRAF KLLN HP_DECREASED_NASAL_NITRIC_OXIDE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_NASAL_NITRIC_OXIDE DRC1 MCIDAS DNAJB13 CCNO CFAP298 LRRC56 HP_MOTOR_REGRESSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTOR_REGRESSION POLR3K SELENOI HSD17B4 ADH5 CLN8 POLR3GL HP_PSYCHOGENIC_NON_EPILEPTIC_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSYCHOGENIC_NON_EPILEPTIC_SEIZURE PALS1 JARID2 MYT1L SDHD KMT2E SDHC CCDC32 HUWE1 KAT8 DPYSL5 CIZ1 HS2ST1 BPTF CDKL5 ZMIZ1 PUS7 DDX6 PTPN23 MED13 UBR7 DNAJC6 WASF1 VHL GABBR2 SPART NTNG1 STXBP1 TP53 DLST NTNG2 VPS13C WDFY3 HTRA2 MECP2 DOCK3 KCTD17 RET DRD2 EPAS1 SDHA RLIM MAX FH ACTL6A MAPK8IP3 TRIP12 HPDL CREBBP SLC12A2 SVBP TMEM127 PINK1 SDHB PRKN TANC2 HTT DNMT3A SLC25A11 MED27 BCORL1 GRIA4 PODXL KDM4B KIF1B PARK7 SDHAF2 TNRC6B PSMD12 TRMT1 CNOT3 SNCA TRAPPC4 ACTL6B KCNMA1 SATB1 FBXW11 AGO2 TOR1A EP300 TCF20 SGCE NF1 LRRK2 UCHL1 MADD SMC1A SYNJ1 MDH2 HP_DECREASED_SERUM_TERMINAL_COMPLEMENT_COMPONENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SERUM_TERMINAL_COMPLEMENT_COMPONENT C6 C7 C9 C5 C8B C8A HP_ABNORMAL_FACTOR_IX_ACTIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FACTOR_IX_ACTIVITY PMM2 GGCX F9 VKORC1 MGAT2 HP_ABNORMAL_MACROSCOPIC_URINE_APPEARANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MACROSCOPIC_URINE_APPEARANCE WT1 PLCE1 NUP133 NUP205 TSC1 TSC2 BLVRA UROS ABCC2 MYO1E CPOX DMD NUP37 MAGI2 ACTN4 NPHS1 PYGM GAPVD1 NUP93 GATA1 TBC1D8B CPT2 APOL1 ALAD NUP160 CLTRN HMBS STAT4 DAAM2 CD2AP CRB2 NPHS2 ANLN UROD IRAK1 ARHGAP24 NUP107 ANKFY1 COL4A3 INF2 NUP85 TRPC6 EMP2 COQ8B SLC6A19 SPP1 ARHGDIA PAX2 PTPRO HP_APLASIA_HYPOPLASIA_OF_THE_THYROID_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_THYROID_GLAND TRHR NKX2-1 FOXE1 PAX8 POLR1C GLI3 TCOF1 NKX2-5 PROP1 POLR1D LHX4 IRS4 TSHR TSHB DUOX2 POLR1B POU1F1 SLC26A4 LHX3 HESX1 NSDHL ADAMTSL1 KAT6B HP_INCREASED_SULFUR_AMINO_ACID_LEVEL_IN_URINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SULFUR_AMINO_ACID_LEVEL_IN_URINE SLC3A1 ABCD4 PRDX1 PREPL SLC7A9 MTRR MTHFR CBS LMBRD1 HCFC1 PPM1B MTR AASS MMACHC MMADHC CAMKMT HP_INCREASED_ASPARTATE_FAMILY_AMINO_ACID_LEVEL_IN_URINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_ASPARTATE_FAMILY_AMINO_ACID_LEVEL_IN_URINE SLC3A1 SLC7A7 AASS SLC1A1 GUCY2D SLC7A9 HP_INCREASED_URINE_PROTEINOGENIC_AMINO_ACID_DERIVATIVE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_URINE_PROTEINOGENIC_AMINO_ACID_DERIVATIVE_LEVEL OPLAH MOCS2 ASPA GPHN MOCS1 GSS HP_INCREASED_URINARY_NON_PROTEINOGENIC_AMINO_ACID_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_URINARY_NON_PROTEINOGENIC_AMINO_ACID_LEVEL SLC6A19 SLC3A1 CTH SLC6A20 DMGDH PLOD2 SLC7A9 SLC36A2 SLC7A7 AASS MMACHC TNFRSF11A DHTKD1 PRDX1 TNFRSF11B PRODH ALDH5A1 SLC6A18 ALDH4A1 LMBRD1 HP_INCREASED_SERINE_FAMILY_AMINO_ACID_IN_URINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_SERINE_FAMILY_AMINO_ACID_IN_URINE SLC6A19 SLC36A2 SLC6A20 GCSH GLYCTK IVD PRODH ACADM AMT SLC6A18 GLDC PCCA MCCC2 PCCB ALDH4A1 HP_INCREASED_PROTEINOGENIC_AMINO_ACID_LEVEL_IN_URINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_PROTEINOGENIC_AMINO_ACID_LEVEL_IN_URINE SARDH SLC3A1 ABCD4 SLC6A20 ARG1 AMT PRODH PREPL SLC7A9 HCFC1 PPM1B MMACHC SLC36A2 MMADHC SLC6A19 IVD GUCY2D OPLAH MCCC2 MTHFR PCCB ALDH4A1 LMBRD1 CLTRN CAMKMT PCCA HAL SLC7A7 AASS PRDX1 GCSH GLYCTK ACADM SLC1A1 SLC6A18 GLDC MTRR CBS MTR HP_ABNORMAL_CIRCULATING_PROTEINOGENIC_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_PROTEINOGENIC_AMINO_ACID_CONCENTRATION SARDH PSPH CPS1 HPD PET117 AMT MMAA PRODH COX5A SLC19A1 PSAT1 NADK2 NAGS TTC37 MMACHC MMADHC TAT TALDO1 FAH UROC1 SLC25A13 COX10 GUCY2D GCH1 MTHFR ASS1 LMBRD1 SPR SUCLG1 PTS GLUL GLYCTK FTCD SLC30A10 ARG1 GLRX5 AASS ASL QDPR ADK GCSH AHCY GLDC PNPO COX8A CBS MCCC1 DLD ALDH4A1 IRF6 KYNU MTRR PCBD1 ABCD4 NDUFB10 MDH1 MCCC2 BCKDHB OTC MMAB PAH COX16 NDUFC2 BCKDHA PCCB NFS1 MAT1A PCCA HAL BCKDK SLC7A7 GNMT BCAT2 PDP1 PRDX1 TNFRSF11B PHGDH MMUT DBT MTR HP_ABNORMAL_CIRCULATING_PROTEINOGENIC_AMINO_ACID_DERIVATIVE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_PROTEINOGENIC_AMINO_ACID_DERIVATIVE_CONCENTRATION NDUFS4 CTH RRM2B TMEM70 MT-ND2 KARS1 NDUFB10 PDHX TRMT10C BCKDHB MICOS13 CA5A MT-TL1 COX5A MT-ND5 ASPA NAGS MMACHC TMEM126B FBXL4 PNPLA8 MIPEP MTO1 SLC25A13 FBP1 COX16 MT-ATP6 MT-TW COX10 NDUFC2 BCKDHA MTHFR MT-ND6 ATP5F1A NFS1 POLG ALDH4A1 LMBRD1 MT-ND3 COQ9 PDHA1 SLC7A7 MT-ND1 PC MT-TK NDUFA13 PDP1 UQCRC2 MT-TV PRDX1 COX6B1 MT-ND4 TYMP SCO1 COX8A MRPL3 DBT LIPT2 HP_ABNORMAL_CIRCULATING_NON_PROTEINOGENIC_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_NON_PROTEINOGENIC_AMINO_ACID_CONCENTRATION MT-ND3 MT-ND2 MPO SLC25A15 APP DMGDH PCK1 SLC25A13 MRM2 MT-TL1 MT-ND5 OTC SLC7A7 NOS3 MT-ND1 MT-TK AASS MT-TV CPS1 MT-ND4 MT-ATP6 MT-TW ALDH5A1 OAT MT-ND6 PLAU HFE HP_ABNORMAL_RIGHT_VENTRICULAR_FUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RIGHT_VENTRICULAR_FUNCTION ROR2 TBX20 TTN DVL1 MYH7 ACTC1 GATA4 WNT5A DAXX TLL1 SLC34A2 SELENON CITED2 GATA6 BMPR2 MYH6 ATRX SDHD NKX2-5 EIF2AK4 HP_ABNORMAL_SHOULDER_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SHOULDER_PHYSIOLOGY SGCA PKDCC GNPTAB HGD TPM2 TRAPPC2 ZMPSTE24 RECQL4 ZC4H2 GNE COMP LMNA FBN1 MYH7 HP_ABNORMAL_RENAL_ECHOGENICITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_ECHOGENICITY TCTN2 MYH11 KIF14 COG6 PBX1 KIAA0586 REN INVS CC2D2A CSPP1 SLC30A9 BICC1 IFT43 DAAM2 SARS2 CILK1 DZIP1L MYOCD HP_ABNORMAL_CIRCULATING_CERULOPLASMIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_CERULOPLASMIN_CONCENTRATION COG2 SLC33A1 CP AP1B1 AP1S1 CCDC115 TMEM199 HP_ABNORMAL_PHARYNX_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PHARYNX_MORPHOLOGY TNFRSF13B SH3KBP1 CD19 FCHO1 MGP GFI1 STX3 PTPN22 NFKB2 SCNN1G CTLA4 TAP1 DNAAF1 TAPBP RSPH1 DYM ICOS CD79A TAP2 CD81 ZAP70 LEP IVNS1ABP IL2RG DNAAF2 HGSNAT NME8 LEPR EGFR IDS ANKH CXCR4 UNG GALNS P4HA2 ADA SERPING1 IRF2BP2 IL7R MID1 SCNN1B RAG1 NAGLU MGAT2 CFI CCDC65 DPF2 RFX5 TCOF1 GIPC1 TNFRSF13C PRPS1 STAT3 BLM CD4 RFXANK CIITA PIK3CD SMARCB1 KATNIP GLB1 SRP54 GUSB PNP HLA-DRB1 CD79B CARMIL2 RSPRY1 FGFR1 CFAP298 PLP1 ALMS1 ADNP UNC119 MED12 ARSB WAS ADA2 SMARCA2 DNAAF11 COG4 RSPH4A TNFSF12 CREBBP TP63 NEK10 CR2 SMARCC2 FOXP1 MCIDAS SMARCD1 SALL4 GNS TCIRG1 PRKCD DCLRE1C NFKB1 ATM RNF168 ARID1A SOX4 ARID2 COL5A1 GJA1 SH2D1A MAGT1 PLG JAK3 COL5A2 RAG2 TP53 ELANE HLA-DPB1 SLC29A3 ARID1B KDM5C SMARCE1 DNAI2 DNAAF4 SHH SPAG1 FGFR2 MATR3 GLI3 EP300 RPGR STK11 DOCK8 DNAJB13 USB1 DNAAF6 ODAD1 SMARCA4 ODAD2 ZMYND10 IKBKB HLA-B FOXJ1 IL21R STXBP2 NCF4 SETBP1 F12 STAT1 PSMB8 AICDA MDM4 IGHM MYSM1 GNPTAB MST1R IL17RA RAC2 NBN GAS2L2 LRBA SCNN1A TBC1D24 ACP5 FOXN1 USP9X SGSH GAS8 ALG12 OFD1 MS4A1 IL6R STK36 FCGR3A DNAH5 HYDIN ASAH1 DNAAF5 XIAP HPS6 SOX11 RFXAP TNFRSF1A HP_DECREASED_CD4_CD8_RATIO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CD4_CD8_RATIO CASP8 CTPS1 UNC119 MAGT1 AP3B1 IL2RA HP_ABNORMAL_GLOMERULAR_MESANGIAL_CELLULARITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GLOMERULAR_MESANGIAL_CELLULARITY SPRY2 CFHR2 KIRREL1 COPA CFHR3 APOE HP_NON_MOTOR_SEIZURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NON_MOTOR_SEIZURE CUX2 PCDH19 SATB1 NHLRC1 FAR1 SCN9A GABRA1 GRIN2A DPM1 SLC13A5 NFKB2 SCN1A ADGRG1 ZNF41 PIGQ MTHFR CLTC KCNQ5 KCNMA1 NBEA SLC9A7 HIVEP2 STX1B ZNF81 KDM5B ADGRV1 NPRL3 SCN1B STXBP1 FRMPD4 CHD2 SCN8A GABRG2 ZEB2 CILK1 NEXMIF GOSR2 AGTR2 PTCHD1 CDH15 DHDDS CACNA1A APC2 ARX GABRD GDI1 ATAD3A SCN2A FTSJ1 PAK3 KCNQ2 GATAD2B KCNA1 MICAL1 CSNK2B SLC6A1 PIGP ZMYND11 TRPM3 RELN DPM3 MAPK10 MYT1L WDR26 NGLY1 GNAO1 RORB CDKL5 CASK SON SETD1B GABRB3 SYP DLG3 CACNB4 CACNA1H SLC2A1 ALDH5A1 ALMS1 DOCK7 ALDH4A1 EFHC1 SIK1 PLPBP KCNB1 AFF3 CUX1 PTEN SYNGAP1 PIGM DNM1 AP2M1 PRRT2 HNRNPK SZT2 HCN1 TREX1 KCNT2 KCNQ3 GLUD1 NPRL2 ATP1A2 ALDH7A1 DMD SLC35A3 JRK DLL1 SLC12A5 SLC25A22 ACSL4 CEP85L ZNF711 CNKSR2 MID2 DMXL2 MBD5 LGI1 TRIM8 UBE3A ARHGEF6 PGAP1 NUBPL EPM2A RAB39B KIF4A GPAA1 CHAMP1 EPB41L1 ASAH1 DEAF1 PIGT NSD1 BRSK2 DEPDC5 RPS6KA3 NEUROD2 WAC CLCN2 ALG13 CAMK2B PNKP MECP2 GLI3 SRPX2 USP27X CIC SMARCA2 CSTB CACNG2 SETD2 TAOK1 PAFAH1B1 KIRREL3 CNTN2 FRRS1L TSPAN7 ASH1L RAB11A NUS1 MED12 IQSEC2 STEEP1 EEF1A2 CLCN4 KIF1A PDE2A PACS1 GRIN2B EHMT1 IL1RAPL1 PI4KA LAMA2 SMPD1 UPF3B GRIN1 SET SATB2 RNU4ATAC USP9X GAL TCF4 DYRK1A MED12L DOCK8 SPATA5 HCFC1 PPP3CA PHGDH DHFR DYNC1H1 CAMK2A HP_ABNORMAL_GLOMERULAR_BASEMENT_MEMBRANE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GLOMERULAR_BASEMENT_MEMBRANE_MORPHOLOGY COL4A5 GATA3 COL4A4 COL4A3 ARHGDIA CFH CEP83 NOS1AP DGKE LMX1B HP_ELEVATED_URINARY_MONOCARBOXYLIC_ACID_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_URINARY_MONOCARBOXYLIC_ACID_LEVEL NDUFB10 OXCT1 ACADM ALDH5A1 HGD HP_ACUTE_PHASE_RESPONSE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_PHASE_RESPONSE SDHD NLRP3 MYD88 BCS1L HLA-DPA1 IFNGR1 STAT2 PTPN22 STX16 MVK CPA1 CDKN2B VHL ANKRD55 HLA-DRB1 PRSS2 PTPN2 GNAS CLDN19 PIEZO1 PRF1 MEFV IL2RA STEAP3 SLC25A38 OTULIN HFE STAT4 P4HA2 NLRP12 STXBP2 PRKAR1A TMEM127 ADORA2A SDHB NLRP1 SLC40A1 FTL TFR2 TREX1 RET SYK SLC34A3 COPA NF1 MEN1 STING1 SDHC IL2RB GLRX5 TBK1 STX11 CPOX CYP27B1 NLRC4 DLST TNFRSF1A CFTR ARPC1B PHEX ADA2 IFNG MAX SLC7A7 LPIN2 TRAF3 HLA-DPB1 CASR NOD2 GNAS-AS1 AIRE CYP3A4 CDKN1B PUS1 PSMB4 CTRC ITK PDE4D UBA1 OCRL PRKCD CD247 PSTPIP1 MDH2 XIAP CASP10 CDC73 CYP2R1 PRTN3 NFKBIL1 SLC19A1 TMPRSS6 UNC13D MCM10 TLR3 IL1RN SPINK1 TICAM1 CD244 CIITA IL10 BMP2 PSMB10 VDR HJV IRAK1 GCM2 PSMB9 UNC93B1 KIF1B PTH HLA-B TGFB1 PKLR MIF PSMB8 SPP1 LACC1 CP HBB SLC22A4 C2orf69 LYST HAMP HAVCR2 FAM20A IL6 RNU4ATAC SLC29A3 IL36RN IL37 KL SOST SDHA FH CDKN2C TRPV6 CDKN1A KCNN4 SLC25A11 SLC4A1 SDHAF2 POMP PRSS1 PSMG2 TBX1 CTLA4 FTH1 HP_NEURALGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEURALGIA TRAF7 TENT5A PDGFB KDELR2 MBTPS2 SMARCB1 BAP1 TERT PRNP PIK3CA NF2 SMO SMARCE1 SH3TC2 SUFU AKT1 HP_PSYCHIC_EPILEPTIC_AURA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PSYCHIC_EPILEPTIC_AURA PDE2A PRRT2 RELN NPRL3 SCN8A GAL NPRL2 LGI1 DEPDC5 MICAL1 HP_EPILEPTIC_AURA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPILEPTIC_AURA CACNA1A SCN1A NPRL3 SRPX2 NHLRC1 LGI1 PRRT2 PDE2A EPM2A PI4KA TREX1 CNTN2 NPRL2 DEPDC5 MICAL1 ATP1A2 KCNA1 RELN SCN8A GAL ADGRG1 HP_ABNORMAL_URINE_METABOLITE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_METABOLITE_LEVEL MCCC1 SARDH COQ2 SDHD HPD GTF2I GALK1 SIX3 NT5C3A UROS PRODH MYO1E SLC7A9 NUP107 HLA-DPA1 SLC12A1 ATP7B LMNA AGK CLCN5 FGFR1 MT-ND6 NDUFAF6 MMADHC TAT VHL UROC1 KIRREL1 COL4A3 MT-TK KCNJ11 WDR19 TOP2A TK2 CLPB CUBN GEMIN4 HMBS ZIC2 IER3IP1 CTNS MT-TS2 GALNS MAN2B1 PUS3 SGPL1 AGA SDHB ASL OCRL SUMF1 KLF6 HGD TREX1 ERCC8 SLITRK6 DNAJB11 ABCC8 COL4A4 INS SLC2A9 KANK2 ISCU TBL2 BCS1L ALK TNFRSF11A HMGCL SLC34A1 PTPRO MIR140 TMEM70 NGLY1 WDR4 SDHC PHKG2 ARG1 PSTPIP1 BCKDHB MIA3 FAH GUSB DMD FTCD CYP27B1 MANBA MAGI2 FBP1 MT-TL1 PIGA MMAB SGCB SUCLG1 PDX1 LMX1B MAFB SHH SAA1 PEX5 ACADVL COX16 CPOX TBC1D8B RET CLCNKB ALDH5A1 NAGA OAT CACNA1S IDUA ATPAF2 ARSB SMAD4 PEPD CFH TRPC6 APRT GATA3 MAX SLC7A7 OSGEP NCF1 CASR ACADM ERCC4 THBD PCCA MT-TE INF2 COL4A5 DNAJC30 PPOX GSN TP53RK DNMT3A PIK3C2A DISP1 ITGA8 FH SLC36A2 MT-TW AMMECR1 ANLN LCAT PRPS1 OTC CLCNKA DNAJC19 GNS FGF8 SMARCA2 SLC6A20 BCL7B MTRR ARHGDIA GCDH MDH2 SLC3A1 AMN CYP2R1 STK11 HNF4A CPS1 SNAP29 PREPL CA5A PIGB CPT2 FLT1 LMNB2 NEU1 GPHN SUOX ACTN4 NPHS1 ERCC5 OPA3 DHTKD1 DBH LDHA PHKA2 FUCA1 G6PD MUTYH ELN GCK ANO5 NIPBL SERAC1 BSND TANGO2 EIF4H GYS2 PAX2 NUP133 LPIN1 SLC35A1 CEL NPHS2 HPRT1 DAAM2 PCK1 CD2AP COQ8B SLC22A12 ZAP70 FN1 HADH IRAK1 FMO3 CASK PIGT SLC37A4 TP53 SCARB2 PYGM MEFV KIF1B NOS3 STIL CRPPA BUD23 APOA1 PLOD1 DGUOK LPIN2 GLI2 CLDN3 AASS ETFDH PMM2 TBC1D24 ABCD4 NUP205 AUH LRP2 TIMM50 MICOS13 GATM KRAS PHKA1 HSD17B10 EHHADH SLC6A19 FAN1 LIN28B WT1 HNF1A ETFB PLCE1 NFS1 ALG9 MT-TF PDSS2 EPAS1 DMGDH MT-TQ TRPV6 SLCO1B1 PLOD2 UNC45A MTHFR SARS2 SLC25A11 PET100 CFI ANKFY1 PRDX1 PGK1 HFE SDHAF2 G6PC1 ERCC6 TMEM270 SLC5A2 CTLA4 GAA PAH OGDH SUCLA2 PNP NF1 FGFR2 HMOX1 CTH KHK WDR73 CFHR3 OXCT1 MT-TS1 NOS1AP KCNJ1 RYR1 RPIA GTF2IRD1 NUP37 STAT2 PEX1 SPINK5 ATP5F1D COX14 MVK COA8 OFD1 SLC25A13 FARS2 IVD HNF1B PIEZO1 GUCY2D OPLAH ASS1 NUP160 HGSNAT LAMB2 APOE GLB1 LYZ IDS NOTCH2 ALAD STAT4 GLA GLYCTK KRT8 HADHA FKRP TPRKB HIBCH HELLPAR TMEM127 TRNT1 SLC16A12 DNASE1L3 GALE SNX14 GBA FOXC2 NAGLU GCSH NUP85 GATA6 ETFA ACSL4 GLDC METTL27 GANAB CBS MT-TH SLC16A1 SLC5A1 PIK3CA PGAM2 DLD ALDH4A1 ATP6V1B2 PHOX2B NSMCE2 KARS1 SLCO1B3 ACP5 C3 BLK MARS1 GAPVD1 MT-CO1 POLG UMPS PAX4 GATA1 DLST XPA COL4A6 TAFAZZIN SPRY2 TKT GALT DPYD PYGL CD46 HLA-DPB1 RFC2 ERCC2 XPC LAGE3 COL2A1 MOCS1 CASP10 DDOST SLC2A2 DDB2 GK TNFRSF11B GLUD1 SLC6A18 EMP2 CHUK SLC12A3 FGA MT-ND4 HADHB ALDOB CFHR2 PRTN3 AMT MMAA ITGA3 TTC37 CLIP2 SMARCAL1 HCFC1 GCLC MMACHC RMRP KCNE5 ABHD11 PKD1 NUP93 SH2B1 LMO1 CLDN16 GSS PFKM APOL1 MCCC2 LMBRD1 CD59 MT-CO2 CAMKMT MT-TN APC LAT2 RRM2B STX1A CRB2 NEUROD1 CORIN MOCS2 STOX1 MT-ND1 ATP5F1E STAT3 CD81 SDHA MT-ND5 SLC1A1 HTRA2 ALPL KRT18 SPP1 LIMK1 SLC19A2 COQ6 MTX2 BAZ1B MCEE NDUFB10 KLF11 HACE1 SLC25A15 MT-CO3 ATAD3A PKD2 GNPTAB BICC1 APPL1 ASPA VPS33A DGKE SUGCT PPM1B XDH ADAMTS13 MAF MYCN IRF1 ERCC3 ERBB2 BCKDHA PCCB SGSH GTF2IRD2 ALDOA CLTRN SURF1 PTPN22 B2M FKBP6 MYH9 HAL CLDN4 VPS37D ARHGAP24 MLXIPL PCBD1 DCXR CFB GRHPR ACAT1 DBT MTR KYNU HP_ABNORMAL_URINE_OSMOLALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_URINE_OSMOLALITY AQP2 SLC12A1 CLCN5 NPHP1 AVPR2 KCNJ1 HP_TISSUE_ISCHEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TISSUE_ISCHEMIA CRELD1 BRCC3 TGFBR2 GTF2I ENPP1 PRTN3 ENG UBAC2 COL3A1 HLA-DPA1 IL23R GTF2IRD1 PTPN22 SCNN1A SLC2A10 NAGS CLIP2 FBN1 SMARCAL1 FOXE3 MYH11 ABHD11 PIK3CA SCN5A NPPA MEFV MPL CCR1 ANGPTL6 ELN KLRC4 KRAS C4A MYH6 EIF4H TGFB2 SCNN1B ACVRL1 LAT2 GLA TGFB3 MYH7 FAS STX1A ACTB P4HA2 CTNNB1 HLA-B ACTA2 ACTG1 GATA6 NKX2-5 IL12B TBX20 TGFBR1 BUD23 TLL1 JAK2 GATA4 HTRA1 METTL27 TBL2 TLR4 MLX HEY2 LIMK1 CLDN3 BRAF NOTCH3 MYLK RNF213 GUCY1A1 BAZ1B TP53 ABCC6 SMAD2 IL10 PRKG1 SCNN1G IL12A SON THPO CBS ADAMTS13 LOX HLA-DRB1 SH2B3 ADA2 MAT2A ZMPSTE24 RASA1 STAT4 COL4A1 GTF2IRD2 IL12A-AS1 LMNA THSD1 SMAD4 NR2F2 SMAD3 IKBKG NCF1 HLA-DPB1 RFC2 FKBP6 TGFBR3 MFAP5 CLDN4 DNAJC30 VPS37D APP CITED2 MLXIPL PIK3C2A GDF2 ERAP1 EPHB4 TET2 CALR MYBPC3 ACTC1 TMEM270 CTLA4 BCL7B HP_NEUROINFLAMMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUROINFLAMMATION ERAP1 POLG FAS MEFV UBAC2 CCR1 IL10 TK2 KLRC4 HLA-B IL23R STAT4 TLR4 IL12A IL12A-AS1 NOD2 NLRP3 C4A HP_TUBE_FEEDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TUBE_FEEDING PTCD3 SEPSECS SIM1 DLL1 GAS1 DNM1L PIGL PTPN23 TPM3 KNSTRN PTCH1 PDHA1 TGIF1 DPM1 NSUN2 RTL1 C12orf4 ZIC2 GRIK2 AIMP1 SPOP SIGMAR1 COL2A1 C2CD3 GRM7 TDGF1 FGF8 FOXP3 CLTC WASHC4 PIGV KCNQ5 NBEA SARS1 HIVEP2 ITCH MYL2 TXN2 BRAF KDM5B UBE4A MFF SHH SIX3 DISP1 MED25 TBCK KANSL1 NACC1 UFSP2 NDST1 CDH15 KIAA0753 FGFR1 ZC3H14 TRIP4 MGAT2 PIGY TECR CARS2 FOXH1 MED23 MT-TE CSNK2B ZMYND11 TRAPPC9 SPG11 TRPM3 TRAPPC12 EP300 MYT1L PDSS2 IQSEC1 LMAN2L GLI2 NODAL WDR26 STXBP1 HACD1 CLIP1 HECW2 STAG2 RNF13 ACTA1 SATB2 CRBN GPT2 METTL23 GALC SLC35A2 PRSS12 SON ST3GAL3 MAGEL2 CLCNKB PLP1 ZNF699 CTCF MEG3 UNC80 ADNP COL4A6 DCPS EN1 DPM2 SETD1B NONO YY1 TPM2 CUX1 LONP1 FDFT1 PIGW COL4A5 CDON UBTF TSEN2 HNRNPK B3GALNT2 TTC5 SRCAP UGDH SETBP1 FBXO31 CLCNKA COG5 RSRC1 SCN3A FRRS1L CLCN6 PGAP3 EZR SLC5A6 ITGA7 SCN1A RECQL4 MAN1B1 GNPTAB MBD5 SMC1A PSAT1 TFG MYO1H DCHS1 PRPS1 PGAP1 COQ2 EPM2A EDC3 DMPK PGAP2 CHAMP1 EPB41L1 DEAF1 PIGT BRSK2 LINS1 WAC FMN2 KRT5 BSND CAMK2B CIC ASXL3 ALKBH8 TOR1A AFF4 PPP2R1A DEGS1 CACNG2 TAOK1 KIRREL3 MTRFR HNMT TNIK ASH1L SYNGAP1 RAB11A COX8A PIK3CD NHLRC1 KLHL40 AASS CREBBP SPTBN4 CLTCL1 KRT14 EEF1A2 PIGU SLC12A2 PIGC KIF1A PACS1 PIGO NALCN TRIO LRPPRC GRIN2B PDE10A SNRPN MBOAT7 SLC45A1 ALS2 PNPT1 PUF60 GFM2 GRIN1 SELENON RALGAPA1 YARS1 SET ASPA ABCD1 ALG12 MOGS SLC1A4 TCF4 DYRK1A MED12L CLN8 TSEN15 KCNK9 DOCK8 TRMU COL7A1 BLM NCDN ANAPC1 SPATA5 DALRD3 PPP3CA MAP3K20 ACSF3 TSEN54 EDEM3 TUSC3 PSAP CC2D1A DYNC1H1 CRADD TSEN34 DLK1 NEMF FUS CAMK2A FAT4 HP_ELEVATED_URINARY_DICARBOXYLIC_ACID_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_URINARY_DICARBOXYLIC_ACID_LEVEL CPOX ALAD PPOX GATA1 UROS HMBS HP_ABNORMAL_CIRCULATING_BILIRUBIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_BILIRUBIN_CONCENTRATION RHAG SLC4A1 SLC2A1 PAX8 GPX1 VPS33B IL12A IYD SPTB UROS VIPAS39 GYPC SLC19A1 EPB41 EIF2AK3 SLC5A5 PKLR TNPO3 TSHR ABCC2 SLC30A10 SLC17A5 SLC25A13 FBP1 WDR35 PFKM G6PD NR1H4 PRF1 LRP5 SLC10A1 PRKCSH LIPT1 PKHD1 UGT1A1 SPTBN1 EPB42 IL12RB1 TG POMC SEC63 ANK1 HSD3B7 SLC35A2 CASK PAFAH1B1 KLF1 SPTA1 TSHB ADK SC5D POLG2 BAAT RFX6 RHCE SLCO1B1 OSTM1 DGUOK RHD SLCO1B3 ABCB11 HK1 TRMU ATP8B1 ODC1 FARSB AKR1D1 GLRX5 CPOX MMEL1 DUOX2 GATA1 DUOXA2 HBB TNFSF15 ZNF699 IGF1 LBR IRF5 PEX19 CPT2 MTTP KIF23 POU2AF1 KCNN4 PIEZO1 TPO FH PGK1 ABCD3 AMACR UBE2A SPIB PIGA ALDOB ABCB4 GSR HP_ACUTE_CORONARY_SYNDROME http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACUTE_CORONARY_SYNDROME BAZ1B THOC2 TP53 JAK2 HLA-B ABCA1 GTF2I UBAC2 IL10 LRP6 IL23R GTF2IRD1 WRN IL12A BCHE CLIP2 BRAF ADAMTS13 ABHD11 SH2B3 ENPP1 CYP27A1 LDLR MEFV RAF1 CCR1 APOB ELN ZMPSTE24 KLRC4 SLC2A10 STAT4 SCNN1G GTF2IRD2 IL12A-AS1 SCNN1B LPL LMNA C4A EIF4H PCSK9 LAT2 GLA FAS STX1A NCF1 RFC2 FKBP6 CTNNB1 MYH9 ABCG5 CLDN4 DNAJC30 IKZF1 VPS37D LDLRAP1 MLXIPL ABCC6 HGD IL12B ERAP1 BUD23 MPL ABCG8 CFTR TET2 CALR CEP19 TMEM270 METTL27 BCL7B TBL2 CBS TLR4 MLX VHL LIMK1 PIGA CLDN3 SCNN1A DYRK1B PTPN11 MEF2A HP_ABNORMAL_MUSCLE_FIBER_TYPE_DISTRIBUTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MUSCLE_FIBER_TYPE_DISTRIBUTION TPM2 SPEG DPAGT1 NEB COLQ AK9 ALG14 CFL2 RYR1 KCNA1 ACTA1 CHRNE GARS1 MYPN DNM2 BIN1 GMPPB TPM3 KBTBD13 UNC45B MYH7 CHRND PNPT1 TTN POMT1 COL13A1 KLHL41 ACTN2 COL6A3 MUSK DYNC1H1 FXR1 GFPT1 COL6A2 MTMR14 CHRNB1 LRP4 KY TNNT1 SCN4A CHRNA1 KLHL40 LMOD3 RAPSN LAMB2 COQ5 MYF6 AGRN DOK7 ALG2 CLCN6 COL6A1 HP_SHORT_TERM_MEMORY_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHORT_TERM_MEMORY_IMPAIRMENT RRM2B GSN RNASEH1 MAPT PRNP HP_PULMONARY_INTERSTITIAL_THICKENING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_INTERSTITIAL_THICKENING SLC34A2 SFTPC BMPR2 CSF2RB SFTPB EIF2AK4 HP_EEG_WITH_FRONTAL_EPILEPTIFORM_DISCHARGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_FRONTAL_EPILEPTIFORM_DISCHARGES GRIN2A SRPX2 FRRS1L ADGRG1 PI4KA SPATA5 HP_EEG_WITH_CENTROTEMPORAL_EPILEPTIFORM_DISCHARGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EEG_WITH_CENTROTEMPORAL_EPILEPTIFORM_DISCHARGES SRPX2 GRIN2A IQSEC2 FRRS1L GABRG2 HP_LUPUS_NEPHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LUPUS_NEPHRITIS FCGR2B PTPN22 DNASE1 CTLA4 TREX1 FCGR2A HP_ABNORMAL_EXTEROCEPTIVE_SENSATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EXTEROCEPTIVE_SENSATION TENT5A SIM1 MPV17 BMPR1A MLH1 NTRK1 UBAC2 KCNJ1 UROS PRNP TRAPPC2 SLC12A1 SLCO2A1 HERC2 RAI1 GNA11 KIF5A DEAF1 PTPN22 DKK1 GALC MFN2 KRAS GABBR2 MEN1 FLII GNAS STXBP1 GPR101 MEFV H19 HARS1 CCR1 FAR1 KLRC4 NGF SCN11A HEXB HLA-DQB1 C4A NAGLU LMX1B ALAD VCP GLA PIK3CA NPRL3 TGFBR2 FAS P4HA2 PMS2 STX16 SCN10A SNRPN ZEB2 CBLIF ALDH18A1 SPTLC2 PMP22 SCN9A AIP GABRG2 SCN4A MLH3 ZFHX2 SLC19A2 MSH2 CHAMP1 SHANK3 TLR4 MADD TDP1 CHST14 LIFR SH3TC2 CACNA1A SCN1A ABCA1 MAGEL2 MORC2 GRIA3 CDKL5 HMBS SEMA4A DCAF8 NAGA SCYL1 KLHL9 NDN HLA-DRB1 SH2B3 RPS20 SLC12A3 GATA1 CUBN RELA UNC80 STAT4 ATL3 ALDH4A1 IL12A-AS1 SLC2A1 SETX DSE MPZ PDCD1 OCA2 COL1A1 HSPB1 ELP1 KIF1A CASR UBTF UROD HNRNPK ERAP1 HINT1 AEBP1 CCT5 TYMP HDAC4 FBN1 SORD NPRL2 DHH ATP1A2 OPA3 GJB1 COMP AIFM1 ATXN1 RRM2B IGF2 DDHD1 KDELR2 CLCNKB NGLY1 TK2 IL23R FMR1 PRPS1 SLC26A2 SERPING1 ABCD1 POLG NF2 FGD4 YY1 MPL NTNG1 KDM5C MSH6 SEPTIN9 SACS MBTPS2 NEFL HLA-B ATP13A2 WNK1 EPCAM SDHA DEPDC5 SNORD116-1 JAK2 NLRP3 IQSEC2 SMC1A KRT14 APP TP53 KRT5 CLTCL1 HPDL SYNGAP1 IL10 IL12A ATL1 NALCN PMS1 THPO EBF3 CCND1 GNA14 PLEKHG4 PWRN1 MECP2 PRRT2 VWA1 FAN1 MKRN3 PWAR1 ZFTA NARS1 HK1 HPGD TGM1 GBE1 RETREG1 SRPX2 NPAP1 MTHFR CTDP1 TET2 CALR GRIN2A SPTLC1 PSAP KCNQ1OT1 SNORD115-1 TNFRSF1A HP_DEATH_IN_ADULTHOOD http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEATH_IN_ADULTHOOD TYMP BAZ1B LAT2 PIK3CA TGFBR2 STX1A NCF1 GTF2I CST3 RFC2 MLH1 FKBP6 PMS2 GTF2IRD1 CLDN4 DSP DNAJC30 VPS4A VPS37D CLIP2 MLXIPL PMS1 APP SCN4A MLH3 ABHD11 ACTB KRAS SLC9A6 BCS1L BUD23 EPCAM MSH2 RPS6KA3 TMEM270 ELN METTL27 BCL7B TBL2 FAN1 POLG GTF2IRD2 LIMK1 CLDN3 MSH6 EIF4H HP_SUPERNUMERARY_CUSP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUPERNUMERARY_CUSP CHSY1 EP300 NEK1 NHS CREBBP HP_ABNORMAL_LEUKOCYTE_PHYSIOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LEUKOCYTE_PHYSIOLOGY TNFRSF13B RNU4ATAC SH3KBP1 NRAS GPC4 VPS45 CD19 CFHR3 MYD88 STX1A IFNGR1 KNSTRN RAG2 NFKB2 DNMT3B CTLA4 SPINK5 KRAS RAG1 CD3E MVK IKBKG HELLS ATP6AP1 KLHDC8B IL4R SLC25A13 TERT ICOS TNFRSF11A CD79A CD81 PRF1 CARD9 ZAP70 UNC13D ESS2 FOXP3 LEP IVNS1ABP TGFB1 IL2RG FAS LEPR ITCH RFXANK OTULIN CISD2 NFE2L2 CXCR4 TPP2 PGM3 PIK3R1 UNG PTEN EXTL3 CD247 STXBP2 RNF168 RFXAP SLC46A1 ADA TBX1 ZEB2 TRNT1 IRF2BP2 IL7R GPR35 NLRP1 GBA LAT BACH2 MGAT2 CD70 RFX5 SYK RNF113A TNFRSF13C SLC6A14 IGKC STAT3 BLM CFTR DGCR8 CIITA JAK3 MYSM1 PIK3CD STING1 PSTPIP1 CDCA7 TCF4 MIF ATM STX11 CTPS1 IL2RB GCLC NLRC4 EPG5 IL21 SON PNP CD79B UMPS B2M SLC26A9 CARMIL2 ELANE MS4A1 TNFSF15 ERCC3 LRRC8A GPC3 WAS ADAMTS3 AK2 ERCC2 MTOR PEPD CEACAM3 ADA2 SETX IFIH1 COG6 CD28 TNFSF12 COL1A1 BTK AP3B1 FASLG TNFRSF1B CR2 SEMA4D SLC7A7 CCND1 TTC37 PSMB4 MS4A2 TP53 KCNN4 ITK HLA-DRB1 ALG12 MTHFD1 SCARB2 CASP8 RBM8A CD40LG PRKCD GTF2H5 DCLRE1C DCTN4 SP110 NFKB1 PLVAP EDNRA SLC5A6 SLC39A4 XIAP CASP10 SEC24C CEACAM6 HFE HLA-DQB1 CFHR2 GATA3 IL12A LCP2 COMT RASGRP1 SLC35C1 SAMD9L SERPINA1 IKBKB TCN2 SH2D1A JMJD1C MAGT1 SMARCAL1 RAB27A TNPO3 IGLL1 ALB CDSN TIMM8A CNBP FAT4 MPLKIP RMRP IKZF1 GSTM3 ZBTB24 TFRC PIGT DGCR2 IRAK4 NHEJ1 LIG4 LMNA COL7A1 KRT5 ADAM17 MAN2B1 SFTPA2 WIPF1 IL12RB1 STAT5B DOCK8 BCL10 KRT9 PSMB9 CARD11 CD27 CAVIN1 FLNA TARS1 TYK2 DGCR6 TCF3 HMOX1 CD55 IL21R IL6ST HIRA MUC5B NCKAP1L RTEL1 PSMB8 PLCG2 AICDA MOGS IGHM SKIV2L RIPK1 KRT14 BLNK CCBE1 MRTFA MMEL1 RAC2 VPS33A CLCA4 NBN UFD1 GTF2E2 HYOU1 LRBA MST1 IRF5 GP1BB TONSL SLC11A1 KRT1 IL6R SLC9A3 ATP6AP2 CD40 PMM2 HLA-DQA1 LAMTOR2 ARVCF MSN POU2AF1 FCGR3A SFTPC POMP NSMCE3 RREB1 CD3D CSNK2A1 SPIB PLA2G7 IL2RA HP_ABNORMAL_CIRCULATING_SEX_HORMONE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_SEX_HORMONE_CONCENTRATION SLC39A4 GNRH1 GATA4 DMXL2 FSHR CYP11A1 POLR3A HS6ST1 NFKB2 POR DHH DMPK KISS1 NUP107 TP53 SMARCB1 POLR3H GNRHR NR5A1 LEP CYP11B1 ZFPM2 LEPR PROKR2 TXNRD2 SPRY4 AKT1 HFE CTDP1 BAP1 FGD1 EIF2B1 BNC1 FSHB POLA1 PIK3CA FGF8 NF2 SMARCE1 KISS1R WDR11 FGFR1 RBM28 DCAF17 EIF2B5 WT1 SRY VAMP7 DMRT3 CYP17A1 CPE B4GALNT1 NSMF ALG6 SMO PDGFB CHD7 LARS2 TERT LHB XRCC2 AR TACR3 WNT4 CYB5A SOX9 MC2R NR3C1 ALMS1 STAR GNAS EIF2B4 SPIDR WWOX DUSP6 BMP15 PROK2 TRAF7 EIF2B2 FGF17 MRAP MRPS22 FOXL2 DHX37 INSR MAP3K1 NR0B1 SUFU HSD3B2 EIF2B3 TAC3 NNT NDNF NR2F2 PSMC3IP HP_BLISTERING_BY_ANATOMICAL_LOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLISTERING_BY_ANATOMICAL_LOCATION LAMC2 KRT14 PLEC KRT5 ITGB4 KRT1 COL17A1 COL7A1 KRT6B COL2A1 LAMA3 CD151 ITGA6 MMP1 DSG1 LAMB3 FERMT1 KRT16 KRT17 SMARCAD1 DSG3 KRT6A HP_BLISTERING_BY_HISTOLOGICAL_LOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLISTERING_BY_HISTOLOGICAL_LOCATION KRT5 KRT14 PLEC LAMA3 LAMB3 ITGB4 LAMC2 ITGA6 COL7A1 HP_ABNORMAL_RENAL_VASCULAR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_VASCULAR_MORPHOLOGY NF1 POU3F4 FIG4 SDHB SDHD JAG1 ABCG5 LDLRAP1 ALG9 ELN TMEM127 PNPLA2 MLXIPL LDLR ABCG8 RET VHL VAC14 MAX APOB STAT1 ADA2 KIF1B YY1AP1 PCSK9 HP_VIRAL_ENCEPHALITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VIRAL_ENCEPHALITIS CD27 UNC93B1 TICAM1 NCKAP1L HYOU1 TBK1 STAT1 TLR3 DBR1 SNORA31 HP_ABNORMAL_CIRCULATING_GABA_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_GABA_CONCENTRATION MPO APP NOS3 PLAU HFE ALDH5A1 HP_PERIPHERAL_CYANOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_CYANOSIS ETHE1 COL1A1 TCF4 RNASEH2C KCNQ2 ELP1 PAX3 FUCA1 IFIH1 SAMHD1 AGXT COL5A1 MVK KCNQ3 COL5A2 RNASEH2B RNASEH2A ADAR TREX1 RPS6KA3 SEPTIN9 HP_MORTALITY_AGING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MORTALITY_AGING NDUFS4 ERCC2 GAD1 PLEC SMPD4 PEX6 GPC4 GTF2I LAMB3 MYL1 SATB1 PIGA FCHO1 MLH1 SLC25A46 PQBP1 STX3 GTF2IRD1 STAT2 TRIP11 SLC25A22 RNASEH2A SLC25A24 ESCO2 PEX1 KRAS SLC9A6 FADD FANCB ATP6AP1 FARS2 MBTPS2 TNFRSF11A PEX26 GRM7 FOXF1 DOLK HEXB ALG14 ROBO1 NDUFA2 GLI3 PIK3CA TPP2 FAM20C TGFBR2 CENPF FXR1 PEX3 PMS2 GLB1 MRM2 NAXE ATAD3A PEX10 GPR161 PEX12 FREM2 SCN4A MLH3 LAT SLC26A2 SDHD WDR11 POLG2 GCSH ETFA MSH2 PTH1R PLXND1 ERCC1 SMO NXN GLDC METTL27 LIPA TBL2 PEX16 NR1H4 PROKR2 MADD PHOX2B CRTAP AARS2 HMGCL DCX MUSK KARS1 GRIP1 COL11A1 ITGB4 ABAT VPS4A PEX5 ITPA TFAM ACTL6B HSPG2 PLCB3 MRPS22 EMG1 NFIX ACADVL RINT1 COX16 ERCC6 HESX1 ROR2 SFTPB GPC3 INTU HDAC6 TYMP LBR PIP5K1C DLL3 LMOD1 AFF3 NCF1 COG6 RFC2 ALG1 CALCRL DNM2 BMPR1B OGDH LHX4 DSP RARS2 DNAJC30 PITX1 GDF5 STT3B CNTN1 TSEN54 PEX19 RNASEH2C CEP55 BCS1L PTF1A GBA RPL3L BOLA3 CD96 SNRPB FLNA BCL7B RBM8A OCRL NEK8 MRPL3 MYLK LMNA QRSL1 VPS33B NEB TMEM70 AMT SCYL2 PIGB SMOC1 COX5A FLNB PEX11B NAXD NADK2 SMARCD2 COASY CLIP2 SUOX RAB27A CDC40 ABHD11 ACTB SLC17A5 UBR1 SLC35D1 KIF20A COX10 DPM2 ELN ACOX1 NADSYN1 MYH11 POLG ITGA6 NDUFB11 MSH6 MYO5B LIPT1 NSDHL EIF4H CRLF1 SUCLG1 LAT2 GLUL LAMA3 RET STX1A SNAP29 SEC31A ASXL3 TOR1A TMEM260 FKRP FGFR3 IDUA BUD23 EPCAM TSFM CCDC22 DNM1L HTRA2 COX8A OSTM1 ATG7 KLHL40 PSMB8 LIMK1 CLDN3 ATP5MK COL2A1 HYLS1 FRAS1 MTX2 ETFDH BAZ1B NDUFB10 ACTG2 NRAS TSPYL1 PSAP WT1 GNPTAB C2orf69 GLE1 PRPS1 TIMMDC1 CLCF1 SLC25A19 PMS1 APP RNU4ATAC VPS33A HYOU1 ARX ABCB11 ZMPSTE24 MESP2 PEX2 ASCL1 SIK1 AIMP1 ETFB FAN1 PEX13 LTC4S GATC ATP7A FLI1 GTF2IRD2 NFS1 ABCA3 PPIL1 ERCC5 ATRX VPS35L CST3 ANTXR2 PEX14 BRAT1 PHGDH FKBP6 POR PKHD1 CLDN4 VPS37D MLXIPL PET100 NSF CDON POMT2 TUFM NDUFAF3 REV3L RPS6KA3 WASHC5 TMEM270 LAMC2 EXOC8 SCO2 RMND1 ALPL EPG5 JPH2 HP_CHROMOSOME_BREAKAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHROMOSOME_BREAKAGE PALB2 FANCL BRIP1 TRAF7 PDGFB BRCA2 FMR1 BAP1 FANCC FANCI TERT BRCA1 FANCD2 PIK3CA NF2 SMARCE1 ERCC4 SUFU COX4I1 FANCF SMARCB1 FANCE RAD50 MCM4 BLM FANCA RNF168 SMO AKT1 HP_PROMINENT_COCCYX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROMINENT_COCCYX TAF1 COLEC10 SH3PXD2B MASP1 COLEC11 TBX15 HP_FINGER_CLINODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FINGER_CLINODACTYLY ATR RNU4ATAC A2ML1 HOXA13 HMGA2 GTF2I HDAC8 BUB1B ALX3 SH3PXD2B LMNA TRPV4 MYCN AMMECR1 RTL1 MAN1B1 RBBP8 EBP RAB23 SPOP TCTN3 MMP23B BPTF MCTP2 OBSL1 NUP37 ABCC8 BRAF GATA5 CBL SPEN RAB18 MAP1B RBM8A NEXMIF BMP2 CDKN1C ACVR1 SOS2 EFNB1 NIN COG8 CENPE NKX2-5 BMPR1B PLXND1 CSGALNACT1 NXN TBL2 SHANK3 SOS1 RFWD3 ERCC4 NKX2-6 KCNJ11 BHLHA9 AKT1 PIGN TP63 COL11A1 NRAS MIA3 SATB2 TBX15 HOXD13 RERE PRKCZ PLAG1 KCNK4 IGF2 EMG1 WDR4 RSPRY1 GPC4 CTCF ROR2 MEG3 CDT1 MAPK8IP3 FGFR3 EXT2 PQBP1 YY1AP1 SOX6 NCF1 CREBBP PUF60 DNAJC30 GMNN MYLPF SALL1 CCDC8 RRAS2 CEP55 B3GALT6 YWHAE BCR COG5 KCNJ2 CD96 CHD7 BCL7B HIC1 RAD21 EPB41L1 CCNQ GATA6 LMX1B PTPN11 TBX1 SLC9A7 BUB1 DVL1 BRCA2 C12orf57 GDF1 CEP152 ORC1 GDF5 EVC2 RNF216 CHSY1 SRCAP ORC4 UBR1 MECOM ELN PIGH RUNX2 NIPBL CUL7 EIF4H STAG2 CITED2 PACS2 HOXA11 NSUN2 FANCA RRAS LIG4 IFT52 PPP2R1A UBE4B H19 BRD4 BUD23 PLK4 ATG7 PIK3CD DACT1 CLDN3 TFAP2B GATA4 TBC1D24 KIF7 ODC1 FANCB NPR2 RPL10 TBX4 HSPG2 DSP KMT2A CPLANE1 TCF4 MECP2 NAA10 SIAH1 KDM1A ZNF462 STAG1 LEMD3 MACROH2A1 QRICH1 FANCF CANT1 PNPLA6 ZNF292 FGF10 XRCC4 GJA5 B3GLCT FGD1 KIAA0753 VPS13B JAG1 REV3L CEP57 FZD2 EP300 BRCA1 TMEM270 PDPN PHF21A RAD51C CNOT3 BUB3 RIT1 BCOR CHRNA7 GTF2IRD1 KNSTRN RAI1 DEAF1 KRAS RAF1 OFD1 CCDC32 FLII ATRIP SLC2A10 PIEZO2 SMC3 TELO2 SLX4 ABL1 ALX1 KPTN POLA1 WNT5A BMP4 ZFPM2 IFT43 MBD5 MASP1 FLT4 CNOT2 EVC METTL27 TCF20 SEMA3E ARID1B BLM GJA1 ZC4H2 FGFR2 TRAPPC9 CKAP2L ATP6V1B2 SHOX CUL4B LMNB2 XRCC2 HDAC4 CDC6 TRAIP UBE3B DYM PCNT DLX3 PTEN AMER1 PKDCC NEK1 PIGS PDE6D SPECC1L GPC3 DPAGT1 TFAP2A DONSON LUZP1 TGDS SMARCA2 WDR19 NONO KDM4B KAT8 LMBR1 SHH FANCC RFC2 USP7 FAM149B1 UBE2T PIGL CRKL RAD51 IFT122 OGT SNRPB AFF2 MAD2L2 RB1 NOG L1CAM PRKACB SMOC1 TBX5 CLIP2 FANCE ABHD11 DHPS FANCI LAT2 STX1A KCNAB2 TMEM216 PAFAH1B1 MLXIPL FANCL EIF4A3 AGO2 TRPS1 MAPK1 ANKRD11 LIMK1 IQSEC2 SKI CDC45 TRRAP KDM6B BAZ1B XYLT1 IHH PACS1 DVL3 TRIO MRAS WIPI2 MAF CASZ1 SNRPN PRDM16 LZTR1 IGF1 JUP CENPJ PTH1R SMC1A GTF2IRD2 MED12 ALG12 ESCO2 PITX1 BRAT1 ATRX FKBP6 CLDN4 FLNB RASA2 VPS37D TRIP13 FANCG TWIST1 ORC6 KLF13 BRIP1 FANCD2 MAP3K7 WDR35 GABRD DLK1 UBE3A FANCM PALB2 KAT6B HP_CLINODACTYLY_OF_THE_2ND_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLINODACTYLY_OF_THE_2ND_FINGER KNSTRN PIK3CD CHSY1 MED12 CSGALNACT1 HP_CLINODACTYLY_OF_THE_3RD_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLINODACTYLY_OF_THE_3RD_FINGER PKDCC KNSTRN PIK3CD DLK1 RTL1 MEG3 HP_CLINODACTYLY_OF_THE_4TH_FINGER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLINODACTYLY_OF_THE_4TH_FINGER KNSTRN SNRPN PIK3CD ABCC8 KCNJ11 HP_CHORIORETINAL_HYPOPIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHORIORETINAL_HYPOPIGMENTATION PAX6 SIM1 TSC2 DCT MAGEL2 SLC25A15 TSC1 WT1 VPS33A HP_ONYCHOGRYPOSIS_OF_FINGERNAIL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ONYCHOGRYPOSIS_OF_FINGERNAIL KRT17 KRT6B DVL1 WNT5A DVL3 FZD2 KRT16 COL7A1 KRT6A HP_ABNORMAL_HEMIDIAPHRAGM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HEMIDIAPHRAGM_MORPHOLOGY GNE GATA6 NDUFAF5 NR2F2 WT1 HP_DECREASED_ADIPOSE_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ADIPOSE_TISSUE PLIN1 PPARG CAV1 LMNA IGF1R POLR3A TGFB1 SLC25A24 RBM28 MPLKIP GTF2E2 ERCC2 BSCL2 FOS ERCC3 ERCC4 ZMPSTE24 LIPE KCNJ6 CAVIN1 SKI LMNB2 NAA10 TOP3A AGPAT2 ATP6V1E1 FBN1 INSR BLM KCNK9 SLC2A2 FH TARS1 MTX2 SOX18 PTF1A ERCC6 ERCC8 CIDEC RNF113A GTF2H5 PSMB8 TGFB3 LEMD2 HP_ABNORMAL_LOWER_LIMB_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LOWER_LIMB_BONE_MORPHOLOGY ATR ATP7A RNU4ATAC LMBR1 DYNC2LI1 TRPS1 CCDC32 NF1 SATB1 TENT5A CCDC47 HERC2 IFNGR1 MMP13 CLCN5 DDRGK1 WDR19 RAB23 GNAS TPM2 PLEKHM1 TCTN3 OBSL1 WDFY3 COL1A2 ARSL CHEK2 RPS6KA3 CEP41 SMOC1 ANKH MATN3 TBX4 DAG1 SPEN GABRG2 ZEB2 RBM8A FLNB ACVR1 MYH3 TSHB COG4 COG8 SC5D POU1F1 BMPR1B GJA1 INPP5E KCNA1 CSGALNACT1 NXN LMNA KCNMA1 TUBB3 DYNC2H1 RPL13 NOG ERCC4 CRTAP BHLHA9 MIR140 TCTN1 NGLY1 AKT1 CANT1 HUWE1 FIG4 COL11A1 KCNJ2 CTBP1 MKS1 HOXD13 USP7 PRKCZ CDKL5 GLI3 DOLK CYP27B1 SUCLG1 NDN FAT4 EMG1 PEX5 SALL4 ARCN1 RSPRY1 FGFR2 STXBP1 NANS GPC4 VAC14 CTCF ROR2 ZSWIM6 MEG3 GPC3 TRIP11 CDT1 MAPK8IP3 PHEX DYNC2I1 SIK1 EXT1 WNT10B GLB1 TMEM237 MEGF8 ERCC2 POP1 CERT1 B9D1 NALCN ATRX GUSB COL2A1 PITX1 GDF5 PIK3C2A SETBP1 AEBP1 FBN1 SNRPN COL9A1 CFAP410 PPIB UBE2A FLNA PTEN B4GAT1 EPB41L1 JARID2 TBL1XR1 RECQL4 DMXL2 IYD B3GAT3 SCYL2 AHI1 SLC35C1 COMT RAB3GAP2 DONSON PDE4D ZMIZ1 DVL1 BRCA2 C12orf57 COG1 POR FBXL4 CDC45 WDR35 CHSY1 FUCA1 SIL1 WDR81 ORC4 KIF22 ADAMTS2 MAGEL2 SCN1A TBCE HEPHL1 TCIRG1 GLI1 COL4A1 FN1 ABCA12 LMX1B NKX3-2 PTPN22 POLR1A B9D2 CRPPA NEK1 SVBP TOR1A AFF4 SLC34A3 TANC2 FGFR3 MED27 TMEM38B ECEL1 COL10A1 BRD4 MTX2 HOXA13 RUNX2 KAT6A HTT HIRA SNORD116-1 SLC39A13 DACT1 PTPN2 TBX1 TMEM216 FANCB IGF1R SERPINF1 RBPJ HSPG2 DLL4 DHCR24 SLC26A2 TBX15 KAT6B CC2D2A TCF4 ZMPSTE24 DDR2 SMC1A PWRN1 ADAMTS10 SATB2 PHF6 POMGNT1 MECP2 SETD5 FKBP10 MKRN3 TP63 DOCK3 PWAR1 EXTL3 ADAT3 P3H1 SUFU NOTCH1 GLE1 PHGDH PLOD2 UNC45A TBXAS1 SCN9A TPO RTL1 PDE6D LRP5 BRCA1 RXYLT1 GHR PDPN TRPV4 LTBP3 CEP290 RAD51C CEP120 SIM1 SMPD4 POMT2 BMP2 TRAPPC2 POLR3A GDF6 ARMC9 PEX1 DOK7 PIK3CA NPHP3 GABBR2 IFT80 COMP SBDS PIGQ COL1A1 STX1B ADGRV1 SMC3 FGD1 TNNT3 TELO2 SLX4 LARGE1 LHX4 ATP6V0A2 CHST3 NELFA GNPTG GORAB PRKAR1A GABRD CYP2R1 CEP104 MASP1 PTH1R EED EVC TMEM67 EZH2 MAPK1 MAFB CDC6 ARID1B PIGL MADD MAP3K7 RELN SHOX CUL4B GLA MUSK LMNB2 RAG1 HS2ST1 FGFR1 UBE3B ZBTB20 PUS7 TP53 MYBPC1 SLC10A7 DUOX2 PIGS HESX1 SPECC1L PAPPA2 SH3PXD2B RAG2 EN1 LUZP1 TGDS RLIM KDM4B OCA2 ACTL6A DCHS1 DNAJC21 WNT5A RB1 GABRA1 KCNJ5 UBE2T B3GLCT EBP CRKL RAD51 FMR1 ALG12 NOTCH2 CPLANE1 ORC6 COL3A1 INPPL1 IFT140 DDX6 SLC25A22 PIGG CD247 TGFB3 GTF2E2 PAPSS2 TMEM107 TMEM251 PRKACB ALOX12B SMAD4 SMARCAL1 SCN2A FANCE RMRP LETM1 NTNG1 NEUROD2 IFIH1 FANCI CCBE1 NUP88 MBTPS2 VDR TTC21B TRIP12 CREBBP CCDC8 NEPRO SAMD9 PEX7 NFIX PCYT1A DNMT3A FANCL PSAT1 LAS1L MYH8 BGN BPNT2 KATNIP RIPK4 ASXL1 EVC2 HYLS1 MMP14 XYLT1 CLTCL1 ABCC9 DPYSL5 IFT172 IHH UFD1 MED13 DDX59 KDELR2 MAF ENPP1 FBN2 KCNN3 GALNT2 CSPP1 TAPT1 GP1BB ESCO2 STAT4 SKI DYRK1A LZTFL1 ADA RETREG1 ERCC6 TMEM231 CHD4 PIEZO2 HDAC6 IDUA DOCK6 ANAPC1 GRIP1 PCNT PLOD3 GPC6 PPP2R3C RET CHST11 SCN1B TWIST1 FANCD2 SF3B4 ALPL WNT7A SHH KMT2E SLC35D1 HDAC8 B3GALT6 KCNJ8 AGPS ARL6 AMMECR1 TRPV6 TNFRSF11A MMP23B MET UBR7 GPX4 SGMS2 SOX9 DCLRE1C RAB33B PTHLH GALNS MAN2B1 DLK1 DMP1 WASF1 EFNB1 GRIA4 MGAT2 ARL13B MGP COL11A2 PPM1D NUP188 AIFM1 ACTL6B PIGP RFWD3 EP300 ZNF423 CBY1 ARL3 SYT1 FBXO11 OTUD5 IL7R MIA3 BPTF RERE SLC12A2 SLC35A2 PTPN23 CASK BBS1 ERGIC1 LHX3 RINT1 PIGN ALMS1 EXT2 RPGRIP1L POMGNT2 FGFRL1 CPLX1 LBR KIAA0586 HPDL GMNN MYLPF SALL1 BCORL1 SUMF1 SRCAP TREX1 HDAC4 BCR PSMD12 MMP2 CHD7 AGO2 NEK8 TXNDC15 IFT52 POC1A RAD21 DYM SEC24C CAMK2G TRIM8 TMEM138 SLC5A5 UFSP2 JMJD1C HADHA ORC1 TSHR TCTN2 KDM5C EIF2AK3 CIBAR1 ZBTB16 PNKP VPS13B COL9A2 MMP9 NSUN2 FANCA DHCR7 UBE4B BBS2 PORCN SRP54 KIF5C CNOT3 KANSL1 TGFB1 PIBF1 SCARF2 TCF20 TFAP2B ADAMTSL1 TBC1D24 ARL6IP6 KIF7 NPR2 KAT8 B3GALNT2 ALOXE3 CCN6 SHROOM4 PLAA KMT2A B4GALT7 PUF60 RBM10 GFM2 USP9X ZC4H2 SLC29A3 TONSL ACAN FANCF ERCC1 CTSK CHRNG ARVCF FGF9 PSAP SRY KNSTRN KIAA0753 LIG4 CUL7 RREB1 INPP5K FZD2 TRMT1 TRAPPC4 FBXW11 CTC1 NSD2 SMARCA2 MYT1L CDH11 ATP6AP2 EOGT FKRP MYCN ERCC5 DLX5 OFD1 GATA4 TBX3 C2CD3 SLC2A10 ACTB EXOC6B PIGV POMK BMP4 CCDC28B FBLN1 MBD5 ADAMTSL2 DYNC2I2 SPART HADHB RASA1 NIPBL SEMA3E KIF14 ATP6V1B2 WDR26 GNAO1 XRCC2 COL9A3 PROP1 ANKRD55 AMER1 PIGF KIAA0825 INTU IFT122 AFF3 FANCC KIF1A HBA2 MSL3 APC POMT1 FAM149B1 EFL1 HINT1 PRMT7 CHUK TNNI2 MED25 LRP4 CYP27A1 MAD2L2 LEMD2 PALS1 PRG4 LIFR WRN PIK3CD FAM50A IL2RB IL2RA KCNH1 TRAF3IP1 RPGRIP1 TBX22 PHYH HSPA9 KCNAB2 SON FKTN TG WNK1 EIF4A3 HPGD IL2RG PEX2 TRRAP ARHGAP31 RNF2 GBA DVL3 ARX CENPE IFT74 FIBP CASZ1 PRDM16 DUOXA2 NTNG2 HBA1 EXOC7 BBS9 HCN1 CLCN7 FLI1 PCDH19 BMPR1A HOXD10 CD96 VPS35L MKKS NPAP1 FANCG COX4I1 TNRC6B ASAH1 BRIP1 SMO SNORD115-1 FANCM PALB2 HP_ABNORMAL_UPPER_LIMB_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_UPPER_LIMB_BONE_MORPHOLOGY SHOX ATR ATP7A LMBR1 A2ML1 KMT2E HOXA13 TRPS1 COL1A1 CCDC32 GTF2I RNU4ATAC HDAC8 B3GALT6 COLEC10 SH3PXD2B KCNH1 AGPS KRAS SUFU LMNA HPGD TRIP11 FANCB AMMECR1 RTL1 STX16 EXOSC2 HOXD13 GNAS TPM2 TCTN3 SF3B4 OBSL1 WDFY3 OTUD6B GPX4 RPS6KA3 SMOC1 NOG MATN3 HFE RAB33B BANF1 CBL PTHLH GALNS FZD2 PRKAR1A RBM8A FLNB CTSK SOS2 KIAA0753 SUMF1 GRIA4 COG4 PRKD1 MMP9 COL11A2 EZH2 NDN BMPR1B GNPAT PLXND1 NXN CHST3 ACTL6B KCNMA1 TBL2 GPC4 SOS1 RECQL4 RFWD3 EP300 ERCC4 MAP2K2 LRP4 MEIS2 CWC27 AKT1 HUWE1 FIG4 NRAS GUSB SATB2 FGFR2 TBX15 BPTF GLI3 BMP2 PTPN23 UBR7 HHAT SUCLG1 FAT4 MAFB SALL4 NFIX B2M SMO DVL1 RSPRY1 RMRP VAC14 ROR2 MEG3 GPC3 ADNP ZIC1 MED12 DVL3 FGFR3 MYH3 EXT2 PQBP1 FGFRL1 GJA5 CPLX1 RUNX2 NCF1 MEGF8 KIAA0586 HPDL ASXL1 GNAS-AS1 PUF60 DNAJC30 GDF5 MYLPF COL9A3 SALL1 BCORL1 FGF16 SLC26A2 TRPV4 RRAS2 KDM4B SRCAP SETBP1 DNMT3A FBN1 HDAC4 PSMD12 COL5A2 DHODH MMP2 KCNJ2 POR FGF9 CD96 FLNA BCL7B PTEN AGO2 PTCH1 IFT52 CHN1 POC1A RAD21 LTBP3 JARID2 CCNQ DYM USP9X LMX1B PTPN11 BICRA PDE4D B3GAT3 SIL1 FANCI SMAD6 RAB3GAP2 DONSON INTU ZMIZ1 COL2A1 BRCA2 WASF1 CHSY1 MECOM GSC ELN KIF22 NIPBL ACAN EIF4H ZBTB16 VPS13B COL9A2 MMP13 PTPN22 HOXA11 NONO NSUN2 JAG1 SVBP FANCA BRAF RRAS SMARCA2 AFF4 TANC2 NHS FGFR1 MED27 TBX5 PORCN COL10A1 BRD4 CANT1 BUD23 MTX2 ALX4 CNOT3 TGFB1 PIK3CD SLC39A13 SCARF2 PIEZO2 DACT1 TCF20 CLDN3 CREBBP SCN9A FGF10 PTCH2 PTPN2 PTDSS1 SETD5 KIF7 NPR2 MYSM1 MMP14 KAT8 DLL4 TBX3 KAT6B CPLANE1 FERMT1 MAP2K1 DDR2 ADAMTS10 B4GALT7 MSX2 SIAH1 FANCE RBM10 SNRPN WDR19 FKBP10 TP63 TONSL DOCK3 MACROH2A1 EXTL3 RPL26 P3H1 FANCF ESCO2 NOTCH1 ERCC1 PEX5 CHRNG AGA B3GLCT SRY KNSTRN CUL7 LRP5 INPP5K REV3L TRMT1 BRCA1 TMEM270 TRAPPC4 SATB1 FBXW11 G6PC3 HS2ST1 MADD RAD51C TENT5A MYT1L LONP1 RIT1 RBPJ EOGT GTF2IRD1 POLR3A ABCC9 RAF1 NTNG1 GATA4 BCOR COMP INPPL1 NSD2 EXOC6B IFITM5 GLB1 FBXL3 FANCC SLX4 SLC12A2 FBLN1 PDE3A TCF12 MASP1 LBR EED GATAD2B TMEM67 METTL27 ZNF141 ARID1B CLCN7 XYLT1 CHD7 RSPO2 XRCC2 RNF13 MAP3K7 ANKRD55 IHH PUS7 MAF COLEC11 CDKL5 CYP26B1 PCNT IFT80 BHLHA9 NEK1 PIGS PDE6D ZMPSTE24 TBX22 MAGEL2 RLIM IFT122 AFF3 ACTL6A DCHS1 RFC2 MAPK8IP3 WNT5A TWIST1 KIF1A APC FAM149B1 UBE2T CTSC RAD51 ALG12 NOTCH2 IFT43 CD247 MAD2L2 PALS1 ADAMTSL2 PRG4 TMEM251 KDELR2 RAB23 CTBP1 TWIST2 SEMA3E ZIC3 CLIP2 SNIP1 ABHD11 RETREG1 GPC6 LETM1 IL2RB IL2RA IFIH1 WNT7A BMP1 PRMT7 LAT2 COL3A1 MBTPS2 PHYH STX1A GJA8 ACVR1 TMEM216 TRIP12 CCDC8 NEPRO SAMD9 FANCD2 SNRPB WNK1 PCYT1A COL5A1 MLXIPL FANCL EIF4A3 BGN BPNT2 NALCN FGF23 LIMK1 PYCR2 BAZ1B ARHGAP31 DPYSL5 SUZ12 GNPTAB PEX7 PACS1 PIGT DDX6 OFD1 TRIO LIG4 MED13 MRAS EXT1 COL9A1 TNNT3 RIPK4 SMC3 LZTR1 NTNG2 TNNI2 DHCR7 CSPP1 TAPT1 SMC1A GTF2IRD2 COL27A1 STAT4 KL BMPR1A SPARC SKI RPS19 PITX1 VPS35L MKKS DYNC2H1 COL11A1 FKBP6 NSD1 CLDN4 RASA2 DOCK6 ANAPC1 HTT VPS37D FANCG TNRC6B BRIP1 SHH PDGFRB DLK1 IFT81 ATL3 FANCM PTH1R PALB2 SLC25A24 HP_ABNORMAL_FOREARM_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FOREARM_BONE_MORPHOLOGY CCNQ ATR SALL4 LMX1B FANCI SMAD6 MAFB TBX5 RAB3GAP2 FLNB SEMA3E SLC26A2 SHOX BRCA2 POR FANCE SLX4 FANCF TBX3 SF3B4 OBSL1 EXOC6B GDF5 WNT7A NIPBL ZBTB16 DHODH MMP13 GLI3 COL2A1 CCDC8 JAG1 FANCA AFF4 SAMD9 B3GALT6 PRKAR1A FGFR3 FANCL EIF4A3 HOXA11 TMEM67 RFWD3 RECQL4 FGF23 SCARF2 ERCC4 LRP4 CHD7 FGF10 NPR2 XRCC2 FANCB TRPV4 PIGT IHH EXT1 PDE4D B2M PCNT RIPK4 FGFR2 RBM10 TAPT1 ESCO2 DONSON BMPR1B RPL26 P3H1 RPS19 VPS35L FANCC DYNC2H1 COL11A1 TRIP11 APC CHST3 UBE2T FANCG RAD51C RAD51 CUL7 ALG12 BRCA1 FLNA BRIP1 FANCD2 IFT81 IFT43 FANCM PALB2 CHN1 MAD2L2 EXT2 HP_HYPOPITUITARISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPITUITARISM DLL1 THOC2 GAS1 SIX3 HBB IARS2 ALX3 HS6ST1 HERC2 SEMA3A PTCH1 EIF2S3 FGFR1 TGIF1 NFKB2 ZIC2 LHX3 KMT2A RNPC3 STIL SOX3 HESX1 GNAS GPR101 TP53 GLI2 ANOS1 GRM7 TDGF1 FGF8 STAT5B LEP LEPR PROKR2 AKT1 GLI3 BAP1 SHH LHX4 DISP1 STX16 KANSL1 SNRPN PRKAR1A TP63 POMC FSHB FLNB SIN3A AIP BMP4 PIK3CA PITX2 TSHB RRAS2 SBDS POU1F1 RBM28 CHD7 DCAF17 SMO FOXH1 KISS1R TMEM67 SOX10 SEMA3E APOA5 BRAF PDGFB ZNF148 KATNIP NODAL DUSP6 TACR3 CCDC141 TBX2 STAG2 MAGEL2 PROP1 ACP5 EDA MEN1 CDON FARSA FGF17 TMCO1 NDN WDR4 CDH23 MADD ALMS1 RFWD3 ZSWIM6 MARS2 SRD5A3 TRAF7 YY1 OCA2 DNAJC21 FOXA2 POLE MT-TL1 SLC7A7 B3GLCT EFL1 IGF2 SUFU NKX2-1 PROK2 PDE4D ARNT2 GH1 ADNP BRCC3 FANCI GMNN SMC1A FANCF DMPK GHRHR SMARCB1 IL17RD TBCE DCC VPS13B FLRT3 AAAS CTNNB1 PNPLA6 AFF4 NF2 SMARCE1 MT-ATP8 PREPL SRP54 BTK SNORD116-1 WASHC5 ADAT3 TBX19 TRAPPC11 TERT NDNF POLR3A RRM2B POLR3GL TBCK WDR11 OTX2 PWRN1 SLC29A3 MKRN3 PWAR1 TRHR ESCO2 DYRK1A GHSR IGSF1 POU3F4 NPAP1 FEZF1 EDA2R CEP57 CDKN1C SPRY4 GMPPA SNORD115-1 PCSK1 HP_AXONAL_DEGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AXONAL_DEGENERATION IGHMBP2 ABCD1 DNM2 TTC19 TXN2 TFG CTDP1 APTX SLC25A21 SERPING1 FLVCR1 GDAP1 GJB1 SH3TC2 NAGA LAMA2 CYP27A1 SEPTIN9 TRIM2 SETX LRSAM1 HP_IRREGULAR_DENTITION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRREGULAR_DENTITION RIN2 TMEM231 NFIX DCHS1 FAT4 NMNAT1 HP_ANTEVERTED_EARS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANTEVERTED_EARS BCOR RPL10 KANSL1 PBX1 KAT6A TTI2 FGF3 CACNA1G SYNGAP1 HMGB3 HP_HAPPY_DEMEANOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HAPPY_DEMEANOR RAB11B HDAC8 SNRPN WDR26 TCF4 SATB2 ASXL1 UBE3A ZEB2 DYRK1A TASP1 SLC9A6 TBC1D23 ATP10A ZSWIM6 OCA2 ADSL HP_TOE_WALKING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TOE_WALKING TPM2 PSAP PANK2 MORC2 B4GALNT1 COL12A1 CAPN3 DMD SLC18A3 GJB1 MYPN COASY HADHA CYP2U1 TLK2 ALDH18A1 PNPLA8 VAMP1 SIGMAR1 FKRP FHL1 SNAP25 ALS2 CHAT SYNE1 GFM2 LMNA COL13A1 DYSF POMT1 LMX1B SPTBN1 ARSA FKTN SGCA VCP ATL1 SYNE2 AIFM1 KY INPP5K AGRN BICD2 KMT2B TMEM43 SYT2 MYO9A FBN1 HADHB SLC25A1 TPM3 CRPPA SLC5A7 SPG11 SMG8 FUS EMD LRSAM1 HP_ABNORMAL_CIRCULATING_RENIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_RENIN CACNA1D CYP11B2 CYP17A1 CLCNKB CYP11A1 SCNN1G HSD11B2 KCNJ1 CASR INSR SLC12A1 CLCN2 CYP11B1 SCNN1B AVPR2 HSD3B2 KCNJ5 KCNJ10 SLC12A3 CLCNKA SCNN1A NR3C2 MAGED2 KCNJ16 BSND HP_ABNORMAL_CIRCULATING_ALDOSTERONE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_ALDOSTERONE MEN1 CDKN1A CDKN1B CDKN2C SCNN1A SCNN1G SCNN1B CDKN2B HP_ABNORMAL_PROLACTIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PROLACTIN_LEVEL TRAF7 TRHR PDGFB LHX4 GLI3 IGSF1 BAP1 PROP1 PRKAR1A TERT FOXA2 HESX1 GLI2 PIK3CA NF2 SMARCE1 SUFU OTX2 POU1F1 RBM28 SOX3 GNAS LHX3 SMARCB1 SMO AKT1 HP_ABNORMAL_BLOOD_FOLATE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_FOLATE_CONCENTRATION OTUD5 FTCD HLA-DQB1 HLA-DQA1 ZNF699 HP_NEOPLASM_OF_THE_INNER_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_INNER_EAR HRAS NF2 VHL PRKAR1A KARS1 HP_BILATERAL_EXTERNAL_EAR_DEFORMITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_EXTERNAL_EAR_DEFORMITY SLC26A2 FIG4 DSP VAC14 JUP ERLIN2 HP_ABNORMALITY_OF_THE_EUSTACHIAN_TUBE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_EUSTACHIAN_TUBE WDR26 TP63 IRF6 NECTIN1 MSX1 HP_ABNORMAL_VITAMIN_B12_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_VITAMIN_B12_LEVEL PRKCD LMBRD1 AMN ABCD4 HLA-DQB1 HLA-DQA1 RNF13 MMAA SLC19A1 RASGRP1 FASLG MMACHC MMAB MMADHC ABCD1 PRDX1 FAS CUBN MTHFD1 GUCY2C GRM7 CASP10 MTRR MTR HP_ABNORMAL_SWEAT_HOMEOSTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SWEAT_HOMEOSTASIS FCGR2A CFTR SCNN1A SCNN1B FUCA1 TGFB1 HP_ABNORMAL_NERVE_CONDUCTION_VELOCITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NERVE_CONDUCTION_VELOCITY AIFM1 ATXN1 RRM2B SLC25A15 RAI1 PSAP NDRG1 ARSA NGLY1 FLVCR1 MED25 MYH14 LITAF PRPS1 PDK3 PLA2G6 MTMR2 EGR2 NEFL GALC SAMD9L MPZ CCT5 FGD4 GJC2 AARS1 PMP22 UQCRC1 SACS PLP1 SH3TC2 POLG VCP HSPB1 FBXO38 RAB7A MATR3 CTDP1 MFF GDAP1 LYST DEGS1 WNK1 HPDL SUCLA2 IDUA ERCC8 FXN DYNC1H1 ATXN10 BSCL2 MFN2 DHX16 LAMA2 NALCN PRX SCN9A JPH1 ABHD12 SLC12A6 HSD17B4 SBF1 ARHGEF10 MORC2 KIF1B PEX6 ERCC3 GJB1 TPI1 DCAF8 MTRFR IGHMBP2 GARS1 PNKP SOX10 SBF2 PTRH2 PNPT1 LMNA GFM2 NEU1 CHCHD10 SETX PLEKHG5 HK1 TBC1D20 DNM2 REEP1 RETREG1 KIF1A NFASC SPTLC1 FBN1 TYMP SORD ERCC6 NOTCH2NLC FBLN5 SIGMAR1 CYP27A1 FAM126A FIG4 LTBP3 LRSAM1 HP_ABNORMAL_SERUM_IRON_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SERUM_IRON_CONCENTRATION TFR2 FOXP1 HJV TRNT1 BMP2 BCS1L CARD9 KIF23 PKLR SKIV2L COL7A1 STEAP3 CP PIGA TTC37 HAMP HFE HP_ABNORMAL_MOTOR_NERVE_CONDUCTION_VELOCITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MOTOR_NERVE_CONDUCTION_VELOCITY JPH1 ATXN1 RRM2B SLC12A6 MORC2 KIF1B GDAP1 GJB1 MED25 LITAF PMP22 MTMR2 EGR2 NEFL DCAF8 GARS1 PRX MPZ CCT5 FGD4 PNKP GJC2 SBF2 AARS1 PTRH2 UQCRC1 SACS LMNA SH3TC2 POLG SETX PLEKHG5 HK1 HSPB1 FBXO38 RAB7A CTDP1 TBC1D20 FXN REEP1 BSCL2 DEGS1 HPDL TYMP SORD NOTCH2NLC DYNC1H1 MFN2 PRPS1 NDRG1 SIGMAR1 FAM126A FIG4 NALCN LRSAM1 HP_ABNORMAL_SENSORY_NERVE_CONDUCTION_VELOCITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SENSORY_NERVE_CONDUCTION_VELOCITY ATXN1 RRM2B SLC12A6 TYMP NOTCH2NLC FXN PTRH2 NGLY1 RETREG1 SACS KIF1A FLVCR1 CHCHD10 SPTLC1 POLG WNK1 HPDL PMP22 SCN9A MFN2 MTRFR HP_ABNORMAL_CIRCULATING_FERRITIN_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_FERRITIN_CONCENTRATION XIAP HBB BCS1L GLRX5 SLC19A1 STX11 CPOX LYST STAT2 NLRC4 HAMP UNC13D MCM10 PIEZO1 HAVCR2 PRF1 FTL SLC40A1 STEAP3 SLC25A38 IFNG HFE SLC7A7 HJV BMP2 STXBP2 SLC30A10 KCNN4 PUS1 ITK TFR2 SLC4A1 FTH1 PKLR CP GFER HP_ABNORMAL_HEPATIC_IRON_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_HEPATIC_IRON_CONCENTRATION HBB BCS1L STEAP3 CP PIGA GLRX5 HP_ABNORMAL_TRANSFERRIN_SATURATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TRANSFERRIN_SATURATION TFR2 HFE HAMP PKLR BCS1L STEAP3 HJV SLC30A10 SLC40A1 HP_DEGENERATION_OF_THE_STRIATUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEGENERATION_OF_THE_STRIATUM ATXN3 RNASEH2C RNASEH2B RNASEH2A ADAR PDE8B SLC2A3 TREX1 HTT IFIH1 SAMHD1 HP_CORTICAL_MYOCLONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORTICAL_MYOCLONUS RAPGEF2 CASR GNA11 PGM3 TNRC6A HP_ACNE_INVERSA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACNE_INVERSA PSENEN MEFV POFUT1 POGLUT1 PSEN1 HYOU1 KDF1 NCSTN IKBKB KRT5 HP_ELEVATED_URINARY_CARBOXYLIC_ACID http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_URINARY_CARBOXYLIC_ACID KIF1B CPOX UROC1 NDUFB10 HPD GATA1 OXCT1 ACADM ALDH5A1 UROS HGD ALAD PPOX RET MVK HMBS TAT HP_GENERALIZED_OSTEOPOROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GENERALIZED_OSTEOPOROSIS CDC73 MEN1 MMP14 B3GAT3 TENT5A CHST3 STAT1 CBS COL1A1 SP7 COL2A1 COL1A2 ZBTB20 CCN6 LMNA GCM2 HP_LOCALIZED_OSTEOPOROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOCALIZED_OSTEOPOROSIS OTX2 LHX4 RUNX2 FSHR NUP107 SOX3 PROP1 MRPS22 POLR3H FOXA2 TRAPPC2 POU1F1 BNC1 NR5A1 HESX1 GLI2 SPIDR BMP15 PSMC3IP HP_ORTHOKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORTHOKERATOSIS LIPN WNT10A DSG1 CARD14 AAGAB CLDN1 FLG2 KDF1 LORICRIN CYP4F22 COL14A1 CSTA HP_ABNORMAL_PELVIS_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PELVIS_BONE_MORPHOLOGY PTH1R BMPER ATP7A FIG4 POR COL11A2 FGFR2 TRPV4 B3GLCT EXT1 IDUA PCNT DYM RSPRY1 ERCC6 ERCC8 BGN VAC14 TRIP11 MBTPS2 EXT2 HP_ABNORMALITY_OF_THE_PERIOSTEUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PERIOSTEUM SLCO2A1 GALNT3 IL1RN COL1A1 FGFR2 KL HP_ABNORMALITY_OF_HAIR_GROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_HAIR_GROWTH ADAM17 BRAF KRT81 TRPS1 IFT122 GJA1 KRT74 CST6 KRAS TP63 DSG4 EGFR GJB6 EDAR KRT83 RPL21 LIPH EDARADD MAP2K1 KRT71 PPP1CB SHOC2 RNF113A KRT86 LPAR6 MAP2K2 KRT25 GTF2E2 HP_ABNORMALITY_OF_THE_TONGUE_MUSCLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_TONGUE_MUSCLE POMT1 DMPK FKRP LARGE1 POMT2 GMPPB HP_MACROTHROMBOCYTOPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MACROTHROMBOCYTOPENIA SLC35A1 GP9 GP1BA GP1BB GATA1 ITGA2B TUBB1 PRKACG HP_OSTEOCHONDROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOCHONDROSIS ACAN DYRK1A ACTB SMAD3 ACTG1 ORC1 LMX1B FGFR1 KRAS HP_SCALING_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCALING_SKIN ADAM17 SAMHD1 KRT1 CARD14 TGM1 CASP14 CAST KIF11 LMNA EGFR IL7R TGM5 CDSN MPDU1 ELOVL4 CSTA CARMIL2 CHST8 LRBA DCAF17 RASA1 PPP2R3C KRT10 MBTPS2 OSMR SULT2B1 ZMPSTE24 PKP1 RNF168 IL2RA LDHA HP_INCREASED_HEAD_CIRCUMFERENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_HEAD_CIRCUMFERENCE KMT2E CCDC32 FMR1 NF1 PEX6 EML1 SLC35D1 CNTNAP2 PIGA SIX3 DIS3L2 GNB2 LFNG KCNJ8 RAB39B KRAS SUFU PTCH1 TRIP11 FGFR1 ARL6 MAN1B1 APC CHD1 PEX10 TNFRSF11A TNRC6B DLL1 TDGF1 FGF8 WDFY3 PEX3 ZNF469 PPP2R5D SH2B1 STRADA SLC9A7 ANTXR2 DHCR24 SOX9 ZIC2 SPTBN1 PLCB4 ANKH BRAF DAG1 PTHLH MAN2B1 TNFRSF11B FRMPD4 RPGRIP1L CDKN1C PTCHD1 PEX12 EXT2 ZSWIM6 FAM111A AKT1 ARX GRIA4 MGAT2 ADK FGFR3 EZH2 ASXL2 FOXH1 CSGALNACT1 NXN ACTL6B KCNMA1 GPC4 SHANK3 TUBB3 PTEN DYNC2H1 MAP2K2 KLLN SDHC OTUD5 HUWE1 CACNA1E OBSL1 GUSB SATB2 BPTF USP7 GLI2 IGBP1 PEX16 PLAG1 PTPN23 UBR7 SYP IGF2 BBS1 SHH DLG3 DVL1 PPP1CB PIGN DNMT3B ROR2 GPC3 MED12 ARSB DVL3 MTOR POMGNT2 LMNA LBR SPINT2 ZDHHC9 POP1 ACADM HPDL POLE PHF6 CLIC2 TGIF1 TWIST1 TMEM67 MAB21L2 KIF7 DPH1 BCORL1 SUMF1 DISP1 DLK1 FH PEX19 CDH2 FAM149B1 KDM4B ZIC1 PSMD12 MTM1 MPDZ SLC26A2 SYN1 UBE2A DMD AGO2 MTMR14 SETD1A GCDH B4GAT1 POC1A ACSL4 ZNF711 CNKSR2 JARID2 USP9X MID2 SLC2A1 BICRA RERE ALKBH8 L1CAM CAMK2G ACER3 L2HGDH ZMIZ1 C12orf57 WASF1 PLG KDM5C WDR35 PGAP2 KIAA1109 NSD1 GDI1 SHOC2 SLC25A1 RPS6KA3 AKT3 NODAL RUNX2 NOTCH2 CSF1R ALG13 ACAN COL4A1 UPF3B INPP5E HEPACAM GRIA3 WDR81 COL2A1 MECP2 HRAS ITCH HMGA2 GLI3 NKX3-2 SOS1 USP27X CDON SMPD1 ABCC9 NONO CRPPA SVBP SHPK AP1S2 TMEM94 HERC1 CCND2 TANC2 SETD2 MED27 H19 DEAF1 STIL CCDC22 SDHD CNOT3 MSX2 KANSL1 CRADD TCF20 PTCH2 ETFDH PTDSS1 CC2D2A IQSEC2 FIG4 KAT8 B3GALNT2 ODC1 TCIRG1 B4GALT1 LRP2 SIM1 TBX15 TBCK YME1L1 MAP2K1 CAMTA1 AMER1 MEG3 PEX2 B4GALT7 PIK3CA ETFB CEP120 KDM1A ERMARD POMGNT1 TONSL DOCK3 D2HGDH MACROH2A1 CLCN4 FBN1 PIK3R2 PEX14 SEC24D B3GLCT LRP5 FZD2 LZTR1 TRMT1 WASHC5 TRAPPC4 RXYLT1 NFIA SLC29A3 PSAP SATB1 FBXW11 PHF21A RAF1 MADD NDUFS4 FIBP GAD1 TENT5A MYT1L PDSS1 NLRP3 BRWD3 KCNJ1 FAR1 POMT2 CHRNA7 PIGL POLR3A RIPPLY2 FKRP APC2 INPPL1 PEX1 TCF12 HELLS NTNG1 ASPA ADGRG1 PEX26 SERPINH1 LRP4 ZNF41 SLC2A10 LAMB1 GNAI3 PIGV RTL1 HEXB TRIO IDS PPP2CA POMK DYNC2I1 MESP2 ZNF81 EDN1 IFT43 LARGE1 SLC12A2 IFT80 KPTN WNT5A AGTR2 RAC1 CCDC28B TNFSF11 SNX14 TBC1D7 DYNC2I2 RNF135 FTSJ1 PAK3 PIGY GAS1 EIF2B5 ETFA SNX10 SMO EED ANK3 TMCO1 MYF6 CLCN7 XYLT1 CUL4B PEX11B ERF FGFR2 STAG2 PPP1R12A GFAP DLL3 HS2ST1 CDCA7 HDAC4 CWC27 GALC IHH ZBTB20 PEX5 SEC23A PUS7 MYMK SON GABBR2 PKDCC NFIB DOCK6 NFIX ZMPSTE24 SUZ12 SMARCB1 RLIM EIF2B2 TMEM216 DPYD ACTL6A MAPK8IP3 PIGW POMT1 MOCS1 CCNK FOXP1 DICER1 TET3 USF3 NEU1 SEC23B PGAP3 PEX13 AFF2 PALS1 TRIM37 SOST KDELR2 SMAD4 SMC1A GNAQ GJA1 ARHGEF6 PAK1 BIN1 NRAS PCGF2 OPHN1 ACADVL ZBTB24 THRA SIX2 MBTPS2 MITF EIF2B1 TRIP12 FKTN MRAS DNMT3A MOCS2 SPRED1 HES7 AGGF1 MYH8 TSPAN7 ANKRD17 HSD17B4 SDHB CHD3 DPYSL5 STEEP1 SLC16A2 RYR1 PIGO PIGT BMP2 DDX6 DNM2 MED13 IL1RAPL1 IFT74 H1-4 MLC1 NTNG2 FLI1 EIF2B4 TBX6 ZBTB42 OFD1 BICD2 BMPR1A PITX1 VPS35L RNF125 CHD8 CHD4 HDAC6 IDUA HTT HOXD13 HCFC1 NDUFAF3 EIF2B3 IFT81 UBE3A TBL1X BGN RIT1 HP_DECREASED_HEAD_CIRCUMFERENCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_HEAD_CIRCUMFERENCE RNU4ATAC CCDC32 SATB1 PIGA BUB1B CCDC47 CACNA1A EIF2S3 KMT2D CAMK2B DPM1 VPS51 RNASEH2A SASS6 TRMT10A GRIK2 MIR17HG KANSL1 NDP SLC6A8 RTEL1 GABRB2 WDFY3 MBTPS2 DOLK MRPS28 NUP37 CTNNA2 ERCC8 SLC39A14 NBEA PHC1 CENPJ DCPS KAT5 METTL5 IER3IP1 PYCR2 CACNA1B UBE4A AIMP2 SPEN PUS3 MAP1B SIX3 ZEB2 NEXMIF TUBG1 SIN3A PEX12 ASPM ZSWIM6 SAMHD1 NIN KCNA1 FGF8 KCNMA1 ARF1 NTRK2 SNRPN NGLY1 TRAK1 HUWE1 FIG4 VARS2 ACADS CDON USP7 GLI2 PRKCZ CYB5R3 SUCLG1 TDGF1 TRAPPC14 ARCN1 RSPRY1 PDHX FZD4 GMPPB VAC14 HNRNPU RFWD3 EFTUD2 MEG3 CDT1 PEX7 AHCY EHMT1 MAPK8IP3 ERCC2 EXT2 PQBP1 CTNNB1 EXT1 RPS29 EEF1A2 RPS10 NCF1 KIF14 CUX1 CERT1 B9D1 ATRX RARS2 ZIC2 HNRNPK NDUFV2 B3GALNT2 RFT1 RNASEH2C UGDH ZIC1 EIF2AK2 KCNJ2 SMARCA2 NF1 PTCH1 RPS24 B4GAT1 UBA5 CHN1 JARID2 TBL1XR1 SLC13A5 SLC2A1 DMXL2 DNM1 BICRA ARID2 RERE SNAP29 TUBB2B SLC35C1 MBD5 DONSON MAPRE2 ZMIZ1 SLC9A6 DCHS1 CEP152 COG1 POR PGAP1 FBXL4 KDM5C PGAP2 SIN3B FKRP ELN ARID1B NODAL TANGO2 EIF4H COL4A1 KIFBP SRPX2 COQ9 B9D2 CRPPA VPS37A CYFIP2 TOR1A COPB2 NDE1 MED27 TAOK1 DEAF1 GRIN2A BRD4 AARS1 FREM1 GOT2 DNM1L SCN3A PNPO COX8A MKS1 HIRA CDK5RAP2 CLDN3 HNRNPH2 TBX1 TMEM216 FAR1 RBPJ FOXH1 TBX4 SHH HSPG2 TBCD EXOSC3 LARGE1 TCF4 WWOX SMG9 KAT6B CC2D2A NUP133 FKTN NAA10 CLPB TUBGCP6 DISP1 AIMP1 SDHB CASK LRP5 SPIDR STAG1 ERCC5 QRICH1 COG6 ADAT3 ATP6V1E1 ARHGEF2 ACE PPP3CA AP4M1 TSEN54 TOE1 PLEKHG2 NCDN DLD INTS8 PET100 VPS13B ATP6V1A EIF5A CEP57 TMEM270 RXYLT1 EXOC8 DPP6 TGIF1 CEP290 RAD51C UBR1 RPS28 TRAPPC11 SMPD4 ZNF408 KIF11 GAS1 BUB3 ALDH3A2 RPL18 SLC25A24 ATRIP RAB3GAP2 TCTN3 SIGMAR1 ADGRG1 ESS2 ADAR CLTC NFIX FANCA IBA57 NDUFS1 TOP3A GLYCTK NSDHL CDK6 LSS SLX4 ATP6V0A2 HNMT KMT2B RAC1 BMP4 HPDL FGFR1 ZC3H14 SNAI2 LINS1 MASP1 FTO MED23 RNF113A DLL1 METTL27 BLM TRAPPC9 WDR62 CKAP2L NALCN SLC6A9 WDR73 RELN CUL4B CHKB PPP1R12A HS2ST1 SLC1A2 KCTD7 PPP1R15B HCN1 ZC4H2 METTL23 UBE3B PEX5 PUS7 PRSS12 ACTL6B PAH TUBGCP4 NADK2 P4HTM MPDU1 NACC1 PIGS TUBB XPA ELAC2 RAD50 IQSEC1 TFAP2A EN1 SETD1B RLIM ZNF592 SLC25A19 TRPS1 RFC2 AP3B1 ALG1 UPB1 PIGW LAGE3 AAAS UBE2T B3GLCT CYB5A FGF13 KCNA2 DDB2 CRKL RSRC1 ALG3 SNRPB ORC6 SP110 DDX6 PIGG COG7 FBLN5 MAN1B1 DHX37 KIF5A COX15 SMAD4 PRUNE1 KCNB1 CLIP2 AP3D1 MRPS34 COG8 EDC3 DKC1 SCUBE3 LETM1 MFSD2A SMARCE1 PHGDH BDNF FOXRED1 BCAP31 PAX6 CENPT ABCA2 UFM1 GJA1 GJA8 LARP7 CIC TRIP12 HSPD1 MOCS2 GRIA4 RPS19 SLC35A2 CACNG2 SMARCA4 SUCLA2 FANCL EXOC2 ACO2 SMC1A MAPK1 KAT6A RBBP8 OFD1 FAM20C SIX6 MGME1 PIGY RPL11 MICU1 DHDDS DPYSL5 ARX MT-ND3 HACE1 KNL1 TBC1D23 SLC12A6 ALG9 NDUFS6 MBOAT7 SYNGAP1 SMC3 KIF1A GALNT2 FGF12 ALS2 SOX4 TAPT1 TBX6 GP1BB ESCO2 PEX19 STAC3 SKI RPL10 BRAT1 MED12L CIT NUS1 PRKDC AP3B2 TUFM PCNT NARS1 SZT2 TTI2 SLC25A20 FANCD2 AP4S1 DYNC1H1 CCDC88A KDSR NEMF FAT4 SEPSECS TCTN2 LMNB1 KMT2E EXOSC1 HMGA2 GTF2I PTPN23 FBN1 SLC25A22 MYCN AP4E1 DDX59 YIPF5 MIPEP QDPR SPOP DNAJC21 BPTF SYNJ1 MCTP2 C2CD3 MED25 SARS1 SLC20A2 SPTBN1 TXN2 EFL1 RAB18 SGPL1 UFSP2 NDST1 CDH15 FREM2 COX7B MGAT2 PRKD1 SLC16A2 SCN1A NUP188 GNPAT CHAMP1 CSNK2B ZMYND11 TRAPPC12 PYCR1 FBXO11 STXBP1 GABRA2 OTUD5 STT3A SATB2 PEX16 DDX3X RPS20 WDR4 ACADVL SPATA5 UNC80 ADNP AHSG RNASET2 RPGRIP1L CACNA1G TMEM67 HCCS SMARCC2 ZBTB18 DNAJC30 DYRK1A GMNN CARS2 CCDC8 BCORL1 SUMF1 TAT ADH5 PSMD12 NARS2 TP53RK CHD7 MCM5 AGO2 TXNDC15 CEP63 FRRS1L RARS1 POC1A DYM SEC24C RPL27 CWF19L1 RPS23 EIF2AK3 PSAT1 SOX11 GJB4 PURA ORC1 TLK2 PDE2A ACTG1 WASF1 TMTC3 EGF SET POMT2 GRIA2 EOMES DENND5A ASNS ATP7A PIGH STAG2 PNKP SLC35A1 DPAGT1 RNF13 DHCR7 TBC1D24 NCAPH UBE4B KIRREL3 RUSC2 CDCA7 PLK4 RAB11A PIEZO2 TCF20 ARFGEF2 CREBBP DCX PUS1 PPT1 MTRR ALDH18A1 POMT1 KAT8 NDUFS2 AUH C2orf69 TUBB4A UBE3A GRIN2B PLAA GTF2E2 GPKOW YME1L1 ORC4 PEX2 MECP2 GRIN1 KATNB1 FANCF ERCC1 TBC1D20 ZNF292 USP18 XRCC4 ARVCF ALG13 TAF6 NFASC ATP10A NCAPD3 PRDX1 POMGNT1 ERCC6 PSPH TRAPPC4 COG2 CC2D1A TSEN34 CAMK2A MADD CNOT1 THOC2 MAFB FLVCR2 CHRNA7 GTF2IRD1 COG4 NCAPD2 C12orf4 RBM28 ZNHIT3 NDUFS7 NTNG1 RNPC3 TRIO NUP107 FLII GATA4 ASPA RPL35 MTHFR RPL35A RAB3GAP1 POMK BCOR L1CAM ANKRD11 MYH3 RNF168 SLC12A2 NDUFB11 LDHD GABRG2 SDHD TPRKB EIF2B5 SHMT2 EP300 XYLT1 AGT LMAN2L KARS1 XRCC2 DLL3 GALC ITPA FRMD4A MYMK TMCO1 GABBR2 ST3GAL3 PCLO ATR ALDH6A1 CTNND2 UFC1 HDAC8 EIF2B2 FANCC MRPS22 ERCC6L2 NDUFA6 NDUFB10 GINS1 TTC5 SMARCD1 GFM2 FLCN CHUK ADD3 POGZ EZR MAD2L2 HSD17B10 RB1 TAF2 MED17 AP2M1 SAMD9L SEMA3E STT3B POLR3H SPR DPM2 PMPCB FMN2 LAT2 NBN POLR1B ENTPD1 MINPP1 STAT5B BNC1 DEGS1 TUBGCP2 IFT140 RPS7 DGCR6 TNIK COG5 TBCE ALG11 LIMK1 FRAS1 KCNA4 MESD RNF2 ST3GAL5 PIGC PUF60 LIG4 CENPE MFF KIT EXOC7 EIF2B4 ALG12 DDX11 LARS1 CEP135 OCLN FANCG CTU2 DPYD GFM1 NDUFB3 BRIP1 GABRD TMEM126B DLK1 GMPPA ACD FANCM PALB2 GBA NSUN2 TAF13 TNRC6B KMT2C WASHC4 SPTAN1 RPS6KA3 TERT CDK19 DHCR24 RHOBTB2 KDM5B GATA1 DAG1 CENPF QARS1 PEX3 AGA CDK13 IFIH1 TECPR2 SC5D CNKSR2 LIAS SLC6A1 JAM3 MTHFS TUBB3 SPG11 RPS27 TRPM3 ERCC4 NSD1 LIPT2 HMGCL ERCC3 GRIP1 MCPH1 CTBP1 GPT2 ACTB CDKL5 NDUFAF3 OTUD6B PIGP EMG1 NDUFA8 NANS PAK3 ZNF699 NDUFC2 CTCF ATPAF2 YARS2 SIK1 GJA5 OSGEP POLE GRIN2D KIF15 ZBTB11 CLPP BRCA1 TSEN2 MT-ND1 RNASEH2B CLP1 XPR1 DNMT3A SELENOI DSTYK CD96 NDUFS8 BCL7B CEP85L NTNG2 DIAPH1 SCYL2 BUB1 COMT NOP10 ALG2 COASY BRCA2 MACF1 RAD51 MPLKIP CDC45 CDK10 SIL1 EPB41L1 SLC25A1 NHEJ1 IARS1 SERAC1 LMX1B ZNF335 MPC1 INPP5K POLR1A SVBP AFF4 TANC2 PARN TARS1 BUD23 AP1S2 OSTM1 DGUOK HHAT IGF1 FANCB IGF1R HIVEP2 POLR3GL TMEM165 NDUFS4 AUTS2 PIGO FANCE MAB21L1 PHF6 DOCK3 EXTL3 NDUFS3 CPT2 GLE1 KCNH1 SDHA TRAPPC2L SOX2 POLG DALRD3 VPS11 PGAP3 CRADD SMARCB1 G6PC3 PDPN KYNU IQSEC2 HMGB3 PIGL RIPPLY2 SLC35A3 PCNA NAGS KMT2A CHRNG PDGFRB PEX26 GRM7 PIGQ EMC1 RTTN ADSL PPP2CA NUP214 MESP2 TELO2 NELFA CHD2 GORAB PAX3 CDC6 STIL CELF2 MYSM1 GJB3 FARSB CLIP1 LMNB2 INPP5E ACBD5 FOXG1 RAD21 PHACTR1 FARSA CUL3 TRAIP VPS4A TRAPPC6B EPG5 MVK WDR45B DOCK6 PAPPA2 CDC42 LUZP1 AGTPBP1 RPS26 KCNJ6 ACTL6A ARV1 PTEN XPC ANK1 TAF1 NDUFV1 TET3 OGT NR5A1 NDUFAF1 ARID1A TMEM237 RAB11B TMEM107 ZPR1 VPS33B VPS13D GATA6 ITGA3 THOC6 SCN2A ABHD11 MTFMT MMACHC ARSL DGCR2 KDM6A NHP2 NEUROD2 GABRA5 FANCI VARS1 DLAT STX1A EIF2B1 TMEM260 HES7 ACADSB MYO18B RIPK4 ASXL1 KIF1C GLS ANKRD17 SALL4 NEK9 SBF1 NDUFAF8 NAT8L SCN8A GNAO1 PACS1 UFD1 MED13 VPS33A PI4KA YWHAG STAMBP GTF2IRD2 ATP5F1A CTSD DOCK8 PTDSS1 VPS37D BRF1 LAS1L DHFR ACSF3 MCOLN1 EFEMP2 EIF2B3 FUS TREX1 ANKLE2 PEX6 GALK1 LFNG SLC12A5 ADA2 ITGB6 PDHA1 RTL1 ACSL4 SLC18A2 MMP23B LINGO1 GEMIN4 CRIPT DHX30 TCTN1 CYP26C1 INSR PEX10 FGFR3 WDR37 EFNB1 LEMD3 TBL2 MCM4 MEIS2 NKX2-1 CRBN CARS1 KIF2A TRIP13 UBR7 SSR4 POMGNT2 FGFRL1 CPLX1 RAI1 AGTR1 EPRS1 RPL26 UBTF MORC2 TP53 PPP2R1A FH KDM4B NDUFB9 BCR REN DISC1 GTF2H5 TASP1 CNNM2 ARNT2 JAM2 DYNC1I2 PSMC3IP ISCA1 FSHR TMEM70 TRIM8 YIF1B NDUFAF4 JMJD1C CNTNAP1 DHTKD1 PDGFB SDHAF1 NDUFAF2 BRSK2 WBP11 DNA2 NIPBL OCA2 ZBTB16 SLC30A10 RPL15 PARS2 PORCN MT-ND2 NDUFAF5 KIF5C ASH1L CNOT3 AASS ADAMTSL1 MDH1 AP4B1 MICOS13 PHF8 SHROOM4 IKBKG TBCK RPL31 NDUFA1 SLC45A1 MRPS25 MYORG LTC4S NUBPL PMM2 PEX14 TSEN15 CAPN15 PLAG1 AFF2 COPB1 TINF2 TRMT1 RREB1 CSNK2A1 TMX2 PSAP RPS17 HAAO FBXW11 SUFU NSD2 MYT1L RPS15A ARHGAP31 CDH11 VIPAS39 EXOSC9 WT1 TMEM231 RRP7A PEX1 PCDH12 FARS2 PIGV KCNQ5 POLR2A PTS FBXL3 SCN1B POLA1 ADARB1 CSPP1 TSR2 UQCRC2 POLR3K CDK5 DPF2 NECAP1 TECR BRPF1 DGCR8 ATP6V1B2 NDUFA11 ZNF148 NSMCE2 WDR26 CHMP1A SALL1 HDAC4 SHANK3 RPL5 PIGF AFF3 LONP1 ACTG2 HBA2 MOCS1 FBXO31 ELOVL4 PTF1A PRMT7 TDP2 SEMA5A GTPBP2 SLC5A6 LEMD2 PALS1 AMPD2 PAFAH1B1 PEX11B HCFC1 PCGF2 SLC1A4 CNP RPGRIP1 FUT8 PLPBP NCAPG2 KCNAB2 PLP1 ASXL3 ALKBH8 PISD MSMO1 AGGF1 HTRA2 BCL11A TRRAP SF3B4 BAZ1B FDXR CLCN4 UGP2 ALX4 EBF3 KCNT1 IFT74 SPART CASZ1 PRDM16 TUBA1A HBA1 PTRH2 TIMMDC1 VPS53 PEX13 YARS1 BMP15 TSPAN12 TRIT1 FKBP6 CLDN4 HTT MLXIPL NSF TUSC3 SMG8 RIC1 HP_MILD_MICROCEPHALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MILD_MICROCEPHALY THOC6 SDHAF1 LARP7 ASPA CWF19L1 COG6 SDHA SDHB PLAG1 GATA6 UBE3A RIC1 OCA2 CEP85L SDHD HP_ENCEPHALOMALACIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENCEPHALOMALACIA TGFBR3 DNMT3A ABCC6 ALX4 ENG ENPP1 COL3A1 THSD1 MSX2 ANGPTL6 HP_NON_MEDULLARY_THYROID_CARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NON_MEDULLARY_THYROID_CARCINOMA DMPK MINPP1 HABP2 FOXE1 SRGAP1 HRAS NKX2-1 NRAS HP_ABNORMAL_CONSUMPTION_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CONSUMPTION_BEHAVIOR SIM1 SOX4 ARID2 ABCC8 NPHP1 MC4R KCNJ1 ARNT2 CLCNKB UBE3A PREPL SH2B1 HERC2 SLC18A3 HNF1B SPEN PCDH19 MEN1 GNAS HNF1A CLDN16 MMP23B SNAP25 YY1 PKHD1 DHPS CHAT MAPT ARID1B MAGEL2 SMARCE1 NPHP4 LEP UCP2 AVPR2 HESX1 LEPR AQP2 OCA2 SNRPN CTNS KCNAB2 AGRN CTNNB1 POMC SOX2 NEXMIF CACNA1A UBE4B MYO9A MBD5 SMARCA4 KCNJ10 FGFR1 WFS1 DPF2 NDN PTPN22 DPYD KCNJ11 KCNJ5 SETD2 CISD2 BSCL2 SNORD116-1 NTRK2 NLRP3 BRAF SKI PLA2G6 SMARCB1 NKX2-1 PROKR2 LARP7 HSD11B2 SYNGAP1 SATB2 OTX2 RERE PRKCZ HSPG2 PACS1 CYP11B1 MAN1B1 DZIP1L AVP IFT74 CDC73 SLC25A13 CASZ1 SLC12A3 VAMP1 PSEN1 PRDM16 NPHP3 PWRN1 CYP11B2 ALMS1 ZNF699 BBS9 ADNP SLC2A3 LRIG2 COL13A1 GRN SLC5A2 MKRN3 CLDN10 LUZP1 PWAR1 CACNA1D LZTFL1 CASR GPR101 INSR AGPAT2 SMARCC2 HPSE2 SLC7A7 NPAP1 HTT ATP10A SLC3A1 SYT2 ELP2 SOX3 SMARCD1 SCN4A ITPR3 SLC25A1 IL6 ACAT1 MN1 SLC5A7 GABRD PDPN TMEM67 SNORD115-1 SOX11 ARID1A PCSK1 HP_ABNORMAL_SKIN_MORPHOLOGY_OF_THE_PALM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SKIN_MORPHOLOGY_OF_THE_PALM ATR RNU4ATAC SEPSECS C1R RTL1 PPCS HDAC8 LEMD3 DIS3L2 WNT10A KRAS SUFU TNNI3 RSPO1 KRT6B HPGD PDHA1 VPS51 GJB6 HNRNPK TERT APC TPM2 GPR101 PEX10 PLN GJB3 TNNT2 MCTP2 COL17A1 SLURP1 PEX3 IVNS1ABP ZNF469 UBR7 TMPO RPS6KA3 KRT1 SMOC1 SPTBN1 BRAF NHP2 FKTN GJA1 MAP1B TRPV3 SPECC1L ATP2A2 NIPAL4 NEXMIF GJB2 SIN3A KCNK9 WDR37 NECTIN1 NOG AIP ANKRD1 NUP188 ASXL2 CSGALNACT1 NXN MBTPS2 MAP2K2 KLLN BHLHA9 ITGB4 SDHC OTUD5 MYH7 FIG4 CAST ENPP1 MYH6 PTEN PEX6 PARN PORCN KANK2 NALCN PEX5 ABCC9 DKC1 PSEN1 STXBP1 TGM5 VAC14 CTCF ROR2 MEG3 TNNC1 ADNP MED12 FGFR3 TPM1 MTOR MYH3 SRD5A3 FGFRL1 LAMA4 EXT1 CPLX1 TGM1 PTCH1 TINF2 ACTN2 DSP MYOD1 TSEN2 CHST14 DSG1 DPH1 TAT CEP55 KRT10 COL7A1 PSENEN SMARCA2 FGF9 CD96 FGFR2 AUTS2 ALOXE3 TASP1 RAD21 TBL1XR1 SNAP29 KRT5 RPS23 KRT14 ARL3 GJB4 KDSR LORICRIN LAMA3 PTCH2 KRT17 CDK10 PEX16 SMARCAD1 MYPN UBR1 CARD14 NECTIN4 SHOC2 NIPBL LMX1B HRAS CTSB VPS13B SASH1 ATP6V1B2 KRT9 TP63 BRD4 CSTA ABCA12 SDHD SETBP1 PLOD1 DLK1 PKP1 ADAMTSL1 SGCD LAMC2 POMP TRAPPC11 SDR9C7 RPL10 PIEZO2 TBX4 CREBBP PLAA TCF4 FERMT1 MAP2K1 SDHA KRT2 B4GALT7 KRT83 PUF60 RBM10 CSRP3 ZNF462 CTLA4 KATNB1 KCNN3 STAG1 TCAP ACTC1 COG6 RAPSN GLE1 ZNF292 TSEN15 CRYAB CTC1 KCNH1 RAF1 B3GLCT FGD1 MYBPC3 POFUT1 NAA10 LDB3 CEP57 LZTR1 EP300 G6PC3 TSEN34 BAG3 THOC2 SMPD4 CERS3 DLX4 SLCO2A1 PEX1 BMPR1B SLC25A24 COX14 NUP88 SOX18 TERC NSD2 AAGAB GDF5 CTSC ITCH PPP2CA ANKRD11 SMC3 EXTL3 TELO2 ATP6V0A2 PLEC TXNRD2 PERP GPR35 NLRP1 BMP4 KRT6C LAMB3 TAF1A NEXN VCL MT-TS1 RBM20 TRPM4 KLHL24 PEPD ARID1B CD4 PRDM16 XYLT1 CYP4F22 AQP5 CKAP2L CHD7 PIK3CA PEX11B PEX14 CAP2 PEX26 HDAC4 ZC4H2 MAP3K7 UBE3B PKDCC DOCK6 NOP10 PIGS KRT16 DPAGT1 TFAP2A GATAD1 DSE TGDS YY1 KDM4B IFT122 AFF3 DPYD CD28 LONP1 TRPS1 TRIM37 TNFRSF1B SEMA4D PNPLA1 AAAS MSL3 PIGL NPM1 FOXP1 USF3 MED25 DSG2 IFT43 PEX13 JUP RAB11B CTBP1 LIFR AMACR ALOX12B PEX12 NGLY1 SLC18A3 MCOLN1 SEMA3E RHBDF2 BCOR EHMT1 DES TCF12 DOK7 LETM1 WAC COL14A1 TAFAZZIN CCBE1 NUP107 PEX2 FHL2 MRAS PEX19 ASXL3 SCN5A SERPINB7 CIB1 DOLK ASXL1 SERPINA12 LMNA NBAS MTX2 MUSK SDHB DMD RIN2 PACS1 HAND2 GATA1 VPS33A SEC23B RTEL1 POGLUT1 TNNT3 RIPK4 MST1 FLG IFT57 TNNI2 IGF1 WRAP53 PSEN2 LBR AKT1 USB1 SMC1A ESCO2 OFD1 DDX11 FLNA KRT6A CDK19 CHST3 BRF1 PNPLA6 TWIST1 SLC39A13 TSEN54 PLOD3 TTN DSC2 CFTR GMPPA RIT1 KAT6B HP_ABNORMAL_INSULIN_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_INSULIN_LEVEL ABCA4 PLIN1 DMXL2 PROM1 HNF4A ABCC8 GALK1 MC4R DIS3L2 MAFA SLC16A1 PCARE CA4 SH2B1 HERC2 ARL2BP ARL3 LMNA GLUD1 NAB2 TRMT10A ARL6 BSCL2 DBH LRAT DMPK MEN1 FOS HNF1A KCNJ11 PDE6A YY1 AKT2 OFD1 USH2A INSR IFT172 LEP UCP2 PDE6G LEPR GCK IDH3B CAVIN1 CEL CRB1 EYS AGPAT2 TULP1 MAK NEUROD1 PRPF3 PRPF8 HGSNAT DHDDS NRL IFT140 HADH AHI1 CNGA1 PRCD ESR1 FSCN2 IMPDH1 DHX38 MTX2 DCAF17 RPGR INS CDHR1 BEST1 NR2E3 KLHL7 ZNF513 SNORD116-1 KIAA1549 CPE PDE6B IDH3A SAG RHO RGR PMM2 PRPF31 KLF11 CRX ALMS1 BLK APPL1 POMC PRPH2 PLAGL1 IMPG2 KIZ MPI TTC8 MERTK TOPORS BBS2 CLRN1 SNRNP200 RLBP1 RPE65 GUCA1B STAT6 PDX1 NDN NEK2 AHR PAX4 HYMAI PWRN1 IFT88 PAPPA2 CAV1 MKRN3 RP9 PRPF6 PWAR1 SIM1 RP1L1 ZMPSTE24 RDH12 REEP6 CFAP418 TUB PRPF4 ZNF408 RNF125 SPATA7 CNGB1 ARHGEF18 SCAPER RP1 NPAP1 CDKN1B PPARG SEMA4A RP2 CERKL AGBL5 RBP3 FAM161A SNRPN POMGNT1 ZFP57 MAGEL2 SNORD115-1 PCSK1 SLC7A14 ROM1 HP_HYPOINSULINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOINSULINEMIA DMXL2 CEL ABCC8 PAX4 KLF11 HYMAI KCNJ11 NEUROD1 RNF125 INS HNF1A BLK HNF4A APPL1 ZFP57 PLAGL1 GCK NAB2 STAT6 PDX1 HP_ELEVATED_HEMOGLOBIN_A1C http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ELEVATED_HEMOGLOBIN_A1C KCNJ11 NSMCE2 CEL PAX4 KLF11 INS NEUROD1 GCK ABCC8 HNF1A BLK HNF4A APPL1 YIPF5 PDX1 MTX2 HP_REDUCED_NATURAL_KILLER_CELL_COUNT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_REDUCED_NATURAL_KILLER_CELL_COUNT RIPK1 MCM10 CD70 AP3B1 SYK KNSTRN PIK3CD MCM4 IL2RG NLRC4 FCGR3A PGM3 DNMT3B HP_ABNORMAL_SIZE_OF_THE_DENTAL_ROOT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SIZE_OF_THE_DENTAL_ROOT BCOR SUMO1 LRP6 IRF6 MSX1 WNT10B EDA WNT10A TGFA AXIN2 EDARADD FGFR1 TONSL PAX9 HP_PULMONARY_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_HEMORRHAGE SLC35A1 SLC7A7 COL3A1 ENG PRTN3 HLA-DPB1 ZBTB16 HLA-DPA1 NABP1 WIPF1 NLRC4 WAS EIF2AK4 RARA TBL1XR1 BCOR CTCF STAT5B CTLA4 NUMA1 NPM1 STAT3 PML IRF2BP2 COPA SP110 FIP1L1 PRKAR1A PTPN22 HP_ABNORMAL_SIZE_OF_THE_CLITORIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SIZE_OF_THE_CLITORIS CCNQ ATR GAD1 GATA4 NR5A1 PEX6 UBE3B CYP11A1 FGFR2 PEX11B HCCS CEP152 PEX1 ORC1 ESCO2 POR CDC45 FOS ORC4 UBR1 PEX26 CYP11B1 RSPO1 ZFPM2 INSR CAVIN1 AGPAT2 PEX3 MINPP1 NDUFB11 PEX10 ATIC PEX12 COX7B WT1 SRY BSCL2 VAMP7 DMRT3 ARID1B PEX2 FRAS1 FDXR TRAIP PPP1R12A FIG4 AR CDC6 PEX16 PEX5 KAT6B TOE1 SOX9 VAC14 MAP3K1 DHCR7 CDT1 PEX13 CAV1 WWOX CD96 PEX14 NR0B1 GMNN DHX37 PEX19 HSD3B2 ORC6 PPARG TALDO1 HP_IMPAIRED_GLUCOSE_TOLERANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMPAIRED_GLUCOSE_TOLERANCE POLG2 NSMCE2 CEL USP8 KLF11 SLC2A2 NEUROD1 IFT172 MAFA INSR SLC40A1 AIP LRP6 BLK HNF4A APPL1 GCK PDX1 ESR1 PAX4 HNF1B KCNJ11 LMNA ABCC8 INS HNF1A WFS1 CAV1 PSMB8 SLC5A1 HP_ADENOCARCINOMA_OF_THE_INTESTINES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADENOCARCINOMA_OF_THE_INTESTINES RPS29 RPS28 RPL11 APC GREM1 RPS10 GATA1 RPS26 RPS15A RPL27 MUTYH TCF4 NTHL1 ADA2 RPL26 SEMA4D BMPR1A RPL18 RPL15 GPR35 TSR2 RPS19 RPS20 RPL5 POLD1 RPS7 RPL31 MST1 MLH1 AAGAB RPL35 RPS17 SMAD4 RPS27 RPL35A MSH2 RPS24 COL14A1 POLE HP_ADENOCARCINOMA_OF_THE_SMALL_INTESTINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADENOCARCINOMA_OF_THE_SMALL_INTESTINE APC GREM1 MLH1 AAGAB NTHL1 BMPR1A SMAD4 MSH2 COL14A1 HP_ADENOCARCINOMA_OF_THE_COLON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ADENOCARCINOMA_OF_THE_COLON RPS29 RPS28 RPL11 GREM1 RPS10 GATA1 RPS26 RPS15A RPL27 MUTYH ADA2 RPL26 RPL18 RPL15 TSR2 RPS19 RPS20 RPL5 POLD1 RPS7 RPL31 AAGAB RPL35 RPS17 BMPR1A RPS27 RPL35A RPS24 COL14A1 MLH1 POLE HP_NEOPLASM_OF_THE_PITUITARY_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_PITUITARY_GLAND PDGFB APC USP8 BMPR1A MEN1 MLH1 TERT AIP PKD2 BICC1 BAP1 SEMA4A PMS1 TSC1 PKD1 CDKN2B KRAS RPS20 CDKN1B TSC2 GPR101 SMARCB1 YY1 FAN1 CDH23 MSH6 ALG9 AKT1 TRAF7 GNAS PIK3CA TGFBR2 CDKN2C PRKAR1A IDH1 CTNNB1 PMS2 CDKN1A NF2 SMARCE1 MLH3 SUFU DNAJB11 EPCAM MSH2 IDH2 GANAB BRAF SMO HP_NASOGASTRIC_TUBE_FEEDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NASOGASTRIC_TUBE_FEEDING IQSEC1 LMAN2L PTCD3 SIM1 RECQL4 MAN1B1 CLIP1 HECW2 SLC12A2 KDM5B PIGC CRBN METTL23 KNSTRN SLC35A2 PACS1 PSAT1 PRSS12 NSUN2 C12orf4 EPM2A GRIK2 EDC3 PGAP1 MBOAT7 AIMP1 ST3GAL3 MAGEL2 SLC45A1 CLCNKB PLP1 ZNF699 FOXP3 GRIN1 WASHC4 LINS1 WAC ASPA ABCD1 COL4A6 DCPS FMN2 SARS1 DPM2 BSND MOGS NONO GRM7 UBE4A MFF MED25 KCNK9 ASXL3 NACC1 UFSP2 COL4A5 NDST1 ALKBH8 NCDN ANAPC1 B3GALNT2 ZC3H14 TTC5 SRCAP FBXO31 ACSF3 HNMT TNIK CLCNKA TECR RSRC1 CARS2 MED23 TUSC3 CC2D1A TRAPPC9 CRADD PIK3CD NHLRC1 NEMF FRRS1L EZR AASS HP_ABNORMAL_CIRCULATING_FREE_FATTY_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_FREE_FATTY_ACID_CONCENTRATION UCP2 ABCC8 MTX2 GLYCTK HNF1A HADH ACADVL HP_DECREASED_SERUM_IRON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SERUM_IRON FOXP1 SKIV2L COL7A1 CP PIGA TRNT1 CARD9 HP_MALE_SEXUAL_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALE_SEXUAL_DYSFUNCTION GNRH1 FGFR1 ABCD1 HBB HS6ST1 SEMA3A FMR1 TTR RTN2 CDKN2B DMPK KISS1 CDKN1B NDP GPR101 SMARCB1 ANOS1 AR IL17RD GNRHR DCC HEXB PROKR2 SPRY4 HFE AKT1 SACS FLRT3 BAP1 BMP2 PINK1 PRKN UBAP1 COQ2 AIP HJV PIK3CA FGF8 NF2 SMARCE1 PODXL KISS1R WDR11 LMNB1 TFR2 CHD7 SNCA ATXN8OS SOX10 NSMF LRRK2 SMO UCHL1 GUCY1A1 PDGFB DUSP6 TACR3 CCDC141 CACNA1G TERT NDNF GALC MEN1 FGF17 DNAJC6 CDH23 VPS13C HAMP HTRA2 PROK2 TRAF7 CDKN2C SLC40A1 CDKN1A FEZF1 SUFU PARK7 HESX1 TAC3 PIGA SYNJ1 HP_OLIGOARTHRITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIGOARTHRITIS PTPN22 ANKRD55 PTPN2 IL2RB CD247 TNFRSF1A MEFV HLA-B IL2RA IL36RN STAT4 HP_BLIND_VAGINA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLIND_VAGINA CYP17A1 MTM1 MAMLD1 AR WT1 HP_DARK_URINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DARK_URINE PYGM STAT4 SPP1 CPOX IRAK1 HMBS HP_HYPOPLASIA_OF_THE_OLFACTORY_BULB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_OLFACTORY_BULB TUBB3 SMCHD1 GSX2 POU3F3 ZSWIM6 HP_ABNORMAL_MORPHOLOGY_OF_THE_OLFACTORY_BULB http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MORPHOLOGY_OF_THE_OLFACTORY_BULB DLL1 GLI2 NODAL FOXH1 STAG2 SHH TDGF1 POU3F3 CDON SMC1A PTCH1 ZIC2 GAS1 FGF8 SIX3 ZSWIM6 SMCHD1 GSX2 TGIF1 DISP1 FGFR1 TUBB3 HP_ABNORMAL_SUBSTANTIA_NIGRA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SUBSTANTIA_NIGRA_MORPHOLOGY MAPT C19orf12 GLUD2 TBP ATXN2 NR4A2 PRKN SNCAIP ATXN3 SNCA WDR45 FBXO7 ATXN8OS VPS41 SPG11 GCH1 FTL ADH1C LRRK2 TBCE GBA SLC44A1 HP_ABNORMAL_MORPHOLOGY_OF_THE_RADIUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MORPHOLOGY_OF_THE_RADIUS CCNQ SF3B4 ATR SALL4 LMX1B NPR2 TRPV4 FANCI SMAD6 MAFB TBX5 FLNB GLI3 SLC26A2 IHH SHOX SLX4 EXT1 PDE4D FANCF B2M PCNT TBX3 FGFR2 RFWD3 RBM10 WNT7A TAPT1 FGFR3 ESCO2 NIPBL GDF5 DONSON RPL26 P3H1 DHODH RPS19 MMP13 FGF10 COL11A1 TRIP11 APC AFF4 SAMD9 B3GALT6 PRKAR1A RAD51C EIF4A3 HOXA11 ALG12 TMEM67 FLNA RECQL4 FGF23 FANCB LRP4 IFT81 IFT43 CHN1 EXT2 HP_ABNORMALITY_OF_PERIPHERAL_NERVES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_PERIPHERAL_NERVES AIFM1 ATXN1 RRM2B SLC25A15 MPV17 RAI1 PSAP SNAP29 NDRG1 ARSA NGLY1 FLVCR1 TRPV4 MED25 MYH14 LITAF PRPS1 PDK3 TFG PLA2G6 MTMR2 EGR2 DKK1 NEFL DHH GALC SAMD9L MPZ CCT5 FGD4 GJC2 NTRK1 AARS1 PMP22 UQCRC1 SACS PLP1 SH3TC2 ERCC8 POLG VCP HSPB1 FBXO38 RAB7A MATR3 CTDP1 MFF GDAP1 CEP126 LYST DEGS1 PRNP WNK1 HPDL SPTLC2 SUCLA2 IDUA VPS13A FXN DYNC1H1 ATXN10 BSCL2 MFN2 DHX16 LAMA2 CPLANE1 ERCC6 NALCN PRX SCN9A JPH1 ABHD12 SLC12A6 HSD17B4 SBF1 ARHGEF10 MORC2 KIF1B PEX6 ERCC3 GJB1 TPI1 LMNA ATL1 DCAF8 MTRFR IGHMBP2 EXT1 GARS1 PNKP SOX10 SBF2 PTRH2 PNPT1 GFM2 HSPB8 ATL3 NEU1 CHCHD10 EXT2 SETX PLEKHG5 B2M HK1 TBC1D20 DNM2 REEP1 RETREG1 KIF1A NFASC SPTLC1 SUMF1 FBN1 TYMP SORD SPG21 NOTCH2NLC FBLN5 ERCC4 SIGMAR1 CYP27A1 FAM126A FIG4 LTBP3 LRSAM1 HP_HYPOLIPIDEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOLIPIDEMIA APOC3 SAR1B NGLY1 ACOX2 CETP ANGPTL3 PCYT1A GALNT2 MTTP PNLIP HP_CONGENITAL_MALFORMATION_OF_THE_LEFT_HEART http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONGENITAL_MALFORMATION_OF_THE_LEFT_HEART CRELD1 NR2F2 TBX1 ZNF148 MYRF ARHGAP31 NKX2-5 MKKS WT1 GJA1 POLR3A TBX5 B3GLCT PAH COQ4 GATA6 GATA4 GATA5 CCDC22 FOXF1 PKD1L1 WASHC5 TRAF7 DTNA MCTP2 NOTCH1 SMAD6 NADSYN1 CDK8 HAAO STAG2 FLI1 ANKRD11 KYNU SPOP HP_NARROW_PALPEBRAL_FISSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_PALPEBRAL_FISSURE SMARCA2 TBL1XR1 RPL10 BICRA RTL1 LARP7 SMAD4 PDE4D GATAD2B MYCN INTS1 RECQL4 SPEN KMT2A SLC6A17 PCGF2 SPOP DOCK6 WDR35 ESS2 DGCR2 TRIP12 TENM3 PHF6 CACNA1G HSPG2 MED13 MEG3 KDM4B DDR2 DNMT3A TBX1 CEP55 PCNT TRMT1 HDAC4 B9D2 DGCR6 GPC6 EDEM3 EFEMP2 KCTD1 KPTN ARID2 DLK1 DGCR8 DDX6 PGM3 RBMX ADNP HP_ABNORMALITY_OF_THE_THORACIC_CAVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_THORACIC_CAVITY PDGFB MALT1 GNPTAB TERT RASGRP1 BAP1 PTPN22 BCL6 MAGT1 NAB2 NCF1 RHBDF2 STAT6 EIF2AK4 HLA-DRB1 PORCN BIRC3 BRD4 WT1 SMARCB1 HLA-DPB1 BCL2 AKT1 FOXP1 TRAF7 CYBC1 DNAJC21 P4HA2 EWSR1 NCF4 EFL1 FBLN5 PIK3CA NF2 SMARCE1 SUFU NUTM1 SBDS BTNL2 SRP54 APOE NCF2 HLA-B EFEMP2 PRKCD BCL10 GLMN CYBA CYBB SMO HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_UPPER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_UPPER_LIMBS ZMPSTE24 COL3A1 MMP14 LMNA BANF1 DDR2 FLNA RETREG1 KIF1A HPGD CTSK CTSC WNK1 MAFB MTX2 MMP2 NOTCH2 PDGFRB IFIH1 ATL3 SCN9A HP_ABNORMAL_LACTATE_DEHYDROGENASE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LACTATE_DEHYDROGENASE_LEVEL RHAG HLA-DRB1 B3GALNT2 TCIRG1 SIL1 POMT2 SLC19A1 FLI1 LYST PNPLA2 PITRM1 FKRP TP53 CALR MVK OCRL MPL SLC25A13 HBB TET2 CPT2 POMGNT1 PLEC POMGNT2 CHEK2 COL4A1 CFH POMK LDHA STAT4 DAG1 ACADM LARGE1 RB1 KY FKTN ACAD9 CRPPA MYC HELLPAR POMT1 SLC7A7 KCNN4 PIEZO1 USB1 JAK2 IRAK1 CFI RPS14 VPS13A SLC4A1 INPP5K RHCE RXYLT1 LIPA GAA RHD SPP1 PIGA GATA1 B4GAT1 PLA2G6 CD46 HP_DECREASED_SERUM_COMPLEMENT_C4 http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SERUM_COMPLEMENT_C4 STAT4 C4B C4A PRKCD CFHR2 SPP1 IRAK1 CFHR3 HP_ABNORMAL_DLCO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DLCO XYLT1 SFTPC HLA-DRB1 TERT SFTPA2 RTEL1 CSF2RA ABCC6 XYLT2 EIF2AK4 MUC5B PARN COPA NDUFAF6 HP_TIGER_TAIL_BANDING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TIGER_TAIL_BANDING ERCC2 ERCC3 TARS1 GTF2H5 RNF113A MPLKIP GTF2E2 HP_ABNORMAL_LEVELS_OF_ALPHA_FETOPROTEIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LEVELS_OF_ALPHA_FETOPROTEIN PIK3R5 PLEC SETX ITGB4 NGLY1 MKS1 FLI1 MET ZBTB20 PRPS1 FGFR3 OCRL STK11 NPHS1 FAH AFP PEX6 SLC25A13 PIGN KIT NR1H4 MAD2L2 ITGA6 CTNNB1 ATM RNF168 BCL10 HP_ABNORMALITY_OF_THE_TESTIS_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_TESTIS_SIZE GNRH1 SIM1 GATA4 DMXL2 RPL10 THOC2 FMR1 DUSP6 HS6ST1 CDKN1C SEMA3A ARL6 XRCC2 CFTR KISS1 SOX3 MBTPS2 ANOS1 C14orf39 NR5A1 LEP LEPR PROKR2 DAZ2 DAZ3 GLI3 DHX37 TEX14 MECP2 SLX4 RAB18 SNRPN AGA FSHB POLA1 CCDC28B FAM111A TSHB WDR11 FGF8 CHD7 DCAF17 WT1 KISS1R SRY AXL VAMP7 SOX10 DMRT3 RFWD3 MAP3K7 ERCC4 CUL4B CCDC141 AKT1 TACR3 FANCM MAGEL2 NANOS1 MEIOB SATB2 TSPY1 ZMYND15 FGF17 HSPG2 PTEN BBS1 CYB5A NDN ALMS1 XPA PROK2 GNAS TOGARAM1 USP9Y PQBP1 LHCGR NR0B1 WWOX HDAC8 ZDHHC9 OCA2 FANCC FOXA2 ERCC2 PHF6 CLIC2 XPC IL1RAPL1 UBE2T GDF6 DDB2 HSD3B2 RAD51 FEZF1 HESX1 KLHL10 OGT DNAJC19 GNRHR SYCP3 NF1 NSMF ARX PROP1 MAD2L2 BRCC3 SLC39A4 FGFR1 ZPR1 CYP11A1 SEMA3E WRN DDX3Y ATRX BRCA2 UPF3B SRA1 ERCC5 FANCE KDM5C MCM8 B4GAT1 IL17RD TEX15 SLC29A3 PHGDH SOX9 RSPO1 DCC ZFPM2 CUL7 FANCI SPRY4 CTDP1 FLRT3 DAZ1 RLIM FANCA SAMD9 CYP11B1 FANCL CHRM3 TDRD9 RBMY1A1 CYP19A1 FBN1 SOHLH1 CYP17A1 PMM2 LHX4 FANCB NDNF PHF8 MED12 GLI2 TAF4B OTX2 ERCC3 POU1F1 KCNJ6 FANCF SYCE1 TBC1D20 DKC1 MAP3K1 FANCG GBA2 DAZ4 CFAP47 TEX11 BRCA1 TCTN3 BRIP1 FANCD2 TAC3 RBMX PALB2 RAD51C HP_HYPERKERATOTIC_PAPULE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERKERATOTIC_PAPULE POFUT1 KRT14 KRT5 POGLUT1 LRP1 COL14A1 COL7A1 AAGAB PSENEN HP_SEROSITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEROSITIS PMM2 WT1 PLCE1 NUP133 PRG4 FCGR2B NUP205 PRTN3 UBAC2 IL10 MYO1E HLA-DPA1 IL23R NUP37 IL12A PTPN22 MAGI2 MAF TREX1 ACTN4 NPHS1 GAPVD1 HLA-DRB1 NUP93 F5 TBC1D8B MEFV CCR1 ELANE APOL1 IL6 KLRC4 STAT4 IL12A-AS1 NOD2 NUP160 C4A MVK FCGR2A JAK2 DAAM2 MYH11 FAS CD2AP CRB2 NPHS2 HLA-DPB1 P4HA2 ANLN HBA1 HLA-B BRCA1 DNASE1 CTLA4 ARHGAP24 NUP107 ERAP1 ANKFY1 COL4A3 INF2 NUP85 HBA2 TRPC6 EMP2 COQ8B TLR4 MIF ARHGDIA LACC1 PAX2 TNFRSF1A CFB PTPRO HP_THIN_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THIN_EYEBROW JUP GJB6 KRT71 TRPS1 ST14 EDAR UBE3B RPS28 ATP1A2 RIN2 HDAC4 GNPTAB LIPH POLR3A FIG4 KMT2D ITGA3 TMCO1 SPINK5 ALX4 RNU4ATAC RMRP LPAR6 SNRPE KANK2 WNT10A CDC45 KRT17 EDARADD MBTPS2 GJB2 BRF1 DSG4 MEGF8 NECTIN4 COL11A1 CRIPT DOLK AEBP1 STAG1 EDA SLC1A3 KDM6A CDH3 KIFBP KDM4B NAA10 CACNA1A BANF1 PEX6 KRT74 TP63 APCDD1 KREMEN1 ASXL3 CHST3 EBP CLDN1 ATP1A3 NECTIN1 LSS CCNK B4GALT7 SOX18 HRURF EDNRA DSP KAT6A RPL21 ANTXR1 NF1 EPS8L3 TWIST2 AASS PEX1 BCL11B HP_SPARSE_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPARSE_EYEBROW JUP GAD1 GJB6 PURA TRPS1 DLX4 RPS28 POLR3A FIG4 KMT2D ITGA3 SPINK5 RECQL4 HNRNPK MAN1B1 GJA1 RMRP LPAR6 KRT17 MBTPS2 WDR35 TBX3 GJB2 DSG4 ANTXR1 MEGF8 NECTIN4 KDM6A CRIPT DOLK HEPHL1 KDM1A KAT5 KIFBP NAA10 LIPH WDR26 BANF1 SOS1 STAG2 ALX1 SON NSUN2 TP63 ATAD3A LRP1 HERC1 NECTIN1 LSS TBCD B4GALT7 NUP188 SOX18 EDNRA KAT6A EDARADD CHST3 TWIST2 KRT74 KRT25 PIGK MEIS2 MTX2 KRT71 WNT10B ST14 EDAR CDC42 IRX5 HECW2 ODC1 LARP7 MESD SOS2 COG6 RIN2 HDAC4 GNPTAB CWC27 UBE3B SMS TMCO1 ALX4 LIG4 RNU4ATAC SNRPE KANK2 WNT10A NFIB BRF1 PPP1CB VAC14 SIAH1 COL11A1 PQBP1 ZMPSTE24 EDA SMARCA2 SPOP APCDD1 MED12L YY1 CDH3 LMNA EBP CLDN1 DPH1 LZTR1 HRURF DSP PPP2R3C RPL21 NF1 DSC3 MED25 GTPBP2 RAF1 HP_DECREASED_PROPORTION_OF_CD3_POSITIVE_T_CELLS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_PROPORTION_OF_CD3_POSITIVE_T_CELLS CD3E DCLRE1C IL7R IL2RG PGM3 CD3D RAG2 PNP CD247 RAG1 HP_ABNORMALITY_OF_BODY_MASS_INDEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_BODY_MASS_INDEX SLC2A3 SLC16A2 SLC25A13 FLT1 HTT THOC2 THRA STOX1 CORIN HP_LIMB_MYOCLONUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_MYOCLONUS SCN8A JRK KCNQ3 TBC1D24 KCNQ2 KCTD7 PRNP CDKL5 GABRB3 PRRT2 GABRA1 GABBR2 SCN2A GABRG2 CPLX1 STXBP1 CACNA1H ASAH1 SLC2A1 NOP56 NTNG1 MECP2 ABCD1 TOR1A SGCE KCTD17 MAPT SMC1A DRD2 HP_KNEE_JOINT_HYPERMOBILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_KNEE_JOINT_HYPERMOBILITY TNFRSF1A FGFR3 COMP MEFV LMX1B HP_DECREASED_LIBIDO http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_LIBIDO MEN1 FSHB CDKN1A CDH23 CDKN1B AIP CDKN2C CDKN2B HP_PAIN_IN_HEAD_AND_NECK_REGION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAIN_IN_HEAD_AND_NECK_REGION TRAF7 SF3B1 PDGFB ZEB1 BAP1 TERT CTNS GRHL2 TGFBI GNAQ KRT6B VSX1 DKK1 SLC39A14 PIK3CA NF2 SCN9A SMARCE1 GNA11 SUFU OVOL2 SMARCB1 RASA1 NTRK1 KRT16 CYSLTR2 KRT17 COL8A2 TONSL COL17A1 SMO HMBS CHST6 KRT6A AKT1 HP_ABNORMAL_CERVICAL_SPINE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CERVICAL_SPINE_MORPHOLOGY TENT5A CHRNA1 KDELR2 MBTPS2 DHX37 TRPV4 FLNB POLR3A GLE1 SLC26A2 RIPPLY2 CHST14 FUCA1 CHRNG SOX9 ARSL CHRND DSE HP_EARLY_ONSET_OF_SEXUAL_MATURATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EARLY_ONSET_OF_SEXUAL_MATURATION MYT1L SIM1 KMT2E CCDC32 GTF2I GAS1 NRAS HERC2 FLI1 GTF2IRD1 RAI1 KMT2D DEAF1 TGIF1 IDH1 SPEN RAB23 NTNG1 FOS FLII TNRC6B WDFY3 PIGQ NSD2 SMAD4 NFIX CYP11B1 RTL1 INSR CAVIN1 GLI3 AGPAT2 SHH SIX3 SCN1B DLK1 SLC12A2 KANSL1 SNRPN MKRN3 TSC2 AIP GRIA4 H6PD DDX3X PLAGL1 KCNA1 DLL1 ACTL6B METTL27 PIGP KCNMA1 TBL2 PTH1R NF1 HUWE1 GNAO1 MAGEL2 MIA3 HS2ST1 BPTF CDKL5 SLC35A2 PUS7 PTPN23 CASK UBR7 NDN TDGF1 NODAL PCNT PIGF MC2R HSD3B2 ALMS1 STAR GNAS EHMT1 IFNG FGFRL1 LHCGR SIK1 SOX6 CPLX1 RLIM OCA2 NCF1 ACTL6A MRAP RFC2 MAPK8IP3 HYMAI HPDL USP7 MSL3 CDON DNAJC30 MAB21L2 BCORL1 KDM4B SRCAP HSD11B1 PSMD12 HRAS FGF8 BCL7B AGO2 PPARG NNT SLC25A22 IQSEC2 PAPSS2 PALS1 JARID2 DMXL2 CTBP1 MEN1 TRIM8 ZMIZ1 CLIP2 SCN2A WASF1 ABHD11 KISS1R PIGT LETM1 ELN NEUROD2 ZIC2 GLI2 EIF4H TXNRD2 PNKP LAT2 KDM6A PTCH1 STX1A TRIP12 SVBP ASXL3 TANGO2 TANC2 DHCR7 LMNA MED27 MLXIPL BUD23 CNOT3 LRP5 SNORD116-1 LIMK1 TCF20 CLDN3 BSCL2 KRAS MMP14 BAZ1B KAT8 DPYSL5 FOXH1 DDX6 CREBBP ARX MED13 TSC1 NR0B1 PWRN1 MEG3 IDH2 NTNG2 NR3C1 GTF2IRD2 CAV1 TONSL DOCK3 PWAR1 STK11 CYP17A1 DYRK1A FKBP6 CLDN4 NPAP1 HTT VPS37D EIF5A TRMT1 EP300 TMEM270 TRAPPC4 SATB1 FBXW11 DISP1 MMP2 STXBP1 SNORD115-1 KMT2C MADD HP_NEOPLASM_OF_THE_PERIPHERAL_NERVOUS_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_PERIPHERAL_NERVOUS_SYSTEM SDHD APC RNF43 NF1 DLST MAFA VHL SDHC CDKN2B MEN1 NF2 CDKN1B SMARCB1 YY1 DAXX MAX SDHB SPTBN1 AKT1 HRAS RET BAP1 TMEM127 SPRED1 PIK3CA SMARCE1 DNMT3A LZTR1 KIF1B PDCD10 SDHAF2 EDN3 PHOX2B SMO MLH1 KIT LMNA PDGFB BDNF TERT ATRX TSC1 TSC2 ASCL1 CCND1 KARS1 CCM2 GDNF TRAF7 EPAS1 SDHA FH LRP1 CDKN2C PRKAR1A GCGR CDKN1A MYO1H KRIT1 SLC25A11 SUFU MDH2 HP_SCHWANNOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCHWANNOMA LZTR1 NF1 HRAS NF2 RNF43 SMARCB1 PRKAR1A KARS1 HP_INTRACRANIAL_MENINGIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTRACRANIAL_MENINGIOMA TRAF7 PDGFB NF2 SMARCB1 BAP1 TERT PIK3CA SMO SMARCE1 SUFU AKT1 HP_NEOPLASM_OF_THE_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_EYE PIK3CA RB1 NF1 SF3B1 SDHD SDHC TSC1 AKT1 TSC2 SDHB BAP1 KRT1 VHL PTEN ERCC5 SEC23B KRT10 GNA11 DMPK NF2 NDP ERCC3 DLST CCND1 XPA CYSLTR2 BRAF IFNG MSH6 STK11 SDHA MAX FH CHEK2 ERCC4 ERCC2 XPC GNAQ TMEM127 SLC25A11 DDB2 KIF1B RET SDHAF2 USF3 KLLN TP53 MDH2 HP_NEOPLASM_OF_THE_BREAST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_BREAST MLH1 RAD51D APC RNF43 PIK3CA PALB2 CDKN2A CTNNB1 BRCA2 NQO2 TP53 PRLR PTEN LMNA WRN RB1CC1 RASGRP1 AXIN2 SLC6A17 ATM POLD1 BARD1 BRCA1 AKT1 PPM1D NTHL1 AAGAB PHB CASP10 CDH1 CDKN2B RABL3 COL14A1 FAS RAD51 IDH1 STK11 ATR MGMT PRKN CDK4 XRCC3 MSH6 HMMR SDHD CASP8 FGFR2 MEFV MRE11 BRIP1 KLLN OPCML NF1 SDHC RAD51C MSH2 SDHB RAD54L BAP1 POT1 CHEK2 SEC23B NBN TERF2IP RELA MITF SMAD4 GNAS PALLD ZFTA RAD50 POLE PRKCD ESR1 MC1R PRKAR1A TERT BLM FASLG ACD SLC22A18 IDH2 KRAS MDM2 USF3 TWIST1 ERBB2 HP_EPIRETINAL_MEMBRANE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPIRETINAL_MEMBRANE TSPAN12 CTNNB1 HLA-A APC NF2 NDP ZNF408 C1QTNF5 LRP5 TRNT1 FZD4 HP_NUCLEAR_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NUCLEAR_CATARACT WFS1 BFSP1 GALK1 CRYBB2 CRYBB3 CRYBB1 HSF4 VIM CRYGC IMPG2 GJA8 NHS CFAP410 MIP CHMP4B MVK FTL HP_CORTICAL_CATARACT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORTICAL_CATARACT OPA3 NF2 KIAA1549 BFSP1 OCRL MIP HP_CEREBRAL_PALSY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_PALSY CACNA1D ITGA2B PCBD1 RAD51 DNAL4 WDR81 HPGD GP1BA IDH1 RNF125 SLC6A3 GABRA2 SLCO2A1 DNASE1L3 DCC NTN1 OTUD6B AIP CD109 SCN4A PROC VLDLR IDUA KANK1 ITGB3 GPR101 UGT1A1 AUTS2 IDH2 SPR GP1BB FBXW11 RBM10 ITGA2 AP4S1 TUBB2B AP4M1 PNP SMARCB1 CA8 SYT1 ATP8A2 SLC5A6 DCX SPTBN1 HP_RECURRENT_HAND_FLAPPING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_HAND_FLAPPING ASXL3 HERC2 HECW2 NOVA2 SYNGAP1 CDK19 NEXMIF UBE3A HNRNPH2 AFF2 OCA2 FMR1 HP_CONSPICUOUSLY_HAPPY_DISPOSITION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONSPICUOUSLY_HAPPY_DISPOSITION SLC9A6 KANSL1 SIN3A HNRNPH2 NALCN SATB2 UNC80 HP_OVERFRIENDLINESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVERFRIENDLINESS BAZ1B LAT2 STX1A NCF1 GTF2I RFC2 FKBP6 KANSL1 GTF2IRD1 CLDN4 DNAJC30 VPS37D CLIP2 MLXIPL ABHD11 BUD23 TMEM270 ELN METTL27 BCL7B TBL2 PIGH GTF2IRD2 LIMK1 CLDN3 MED13L EIF4H SMARCA2 HP_ARTERIOVENOUS_MALFORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTERIOVENOUS_MALFORMATION ARL6IP6 ARHGAP31 AKT1 COL1A1 ENG XRCC2 FANCB RBPJ CCBE1 EOGT DLL4 BRCA2 FAT4 FANCE CBS PTEN PIK3CA RASA1 ADAMTS3 FANCI SMAD4 EPHB4 ACVRL1 FANCF MNX1 NOTCH1 FANCC SLX4 FANCA KRAS GUSB COL3A1 TEK DOCK6 UBE2T FANCG GDF2 IL6 COL5A1 AGGF1 FANCL GNAQ RAD51 COL5A2 BRCA1 BRIP1 FANCD2 RFWD3 GLMN FANCM ERCC4 PALB2 MAD2L2 RAD51C HP_RECURRENT_PANCREATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_PANCREATITIS MT-TW PRSS2 PRSS1 MT-TS1 MT-TS2 MT-TQ MT-ND5 MT-CO3 SPINK1 MT-TL1 CDC73 CFTR MT-ND6 MT-TH MT-ND4 GCGR MT-TF MT-CO2 CTRC CASR MT-CO1 CPA1 MT-ND1 HP_NEOPLASM_OF_THE_THYROID_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_THYROID_GLAND APC SOX4 ARID2 KEAP1 BMPR1A SLC26A4 MLH1 DICER1 PTEN EDNRB LMNA WRN RASGRP1 FOXI1 ERBB3 CDKN2B KRAS DMPK ERBB2 HABP2 CDKN1B KCNJ10 RET ARID1B CASP10 FLCN SMARCE1 FOXE1 TG FAS MSH6 GDNF SEMA3D PIK3CA TGFBR2 PMS2 TP53 JAG1 NRTN MEN1 MLH3 SMARCA4 ABCD1 MSH3 EPCAM DPF2 ECE1 MSH2 MINPP1 SDHD KLLN EDN3 SMARCB1 GREM1 SDHC SDHB SEMA3C NKX2-1 CDC73 SMO CHEK2 SEMA4A PMS1 SEC23B RPS20 SRGAP1 FAN1 AKT1 HRAS PRKCD ATP7A SREBF1 CDKN2C PRKAR1A SMARCC2 CDKN1A FASLG NRAS CDKN2A SMARCD1 MDM2 USF3 SOX11 ARID1A HP_TICS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TICS PANK2 CRKL VPS13A BCR EMC10 GATAD2B ARID2 MAPK1 PUF60 PTCHD1 ZBTB20 SLITRK1 HDC ZSWIM6 PDGFB SPTBN1 HP_MOTOR_TICS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MOTOR_TICS PANK2 VPS13A PTCHD1 SLITRK1 HDC PDGFB HP_ABNORMALITY_OF_THE_PUBIC_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PUBIC_HAIR CCDC141 GJB6 GATA4 NR5A1 FSHR FOXL2 SPRY4 DUSP6 WDR11 LHB SEMA3E HLA-DRA GNRH1 SRA1 NUP107 CYB5A SOX9 ITGB4 POLR3H SPIDR ZFPM2 WWOX BMP15 APCDD1 CYP17A1 MRPS22 TP63 MAP3K1 BNC1 FSHB NR0B1 DHX37 FGF17 FEZF1 WT1 PPP2R3C GNRHR COL17A1 EPS8L3 ORC6 ANOS1 SRY AXL VAMP7 DMRT3 AR MDM2 PSMC3IP HP_ABNORMALITY_OF_THE_AXILLARY_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_AXILLARY_HAIR CCDC141 GJB6 GATA4 SPRY4 DUSP6 WDR11 LHB CCBE1 SEMA3E HLA-DRA ZBTB20 TBX3 AXIN2 SRA1 FAT4 APOE CYB5A SOX9 ITGB4 MAP3K1 NR5A1 ADAMTS3 ZFPM2 WWOX APCDD1 CYP17A1 LPAR6 TP63 GNRH1 SNRPE FSHB NR0B1 DHX37 FGF17 FEZF1 WT1 PPP2R3C GNRHR COL17A1 EPS8L3 ORC6 DSC3 SRY AXL VAMP7 DMRT3 PSMB8 AR HP_FRAGMENTED_EPIPHYSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FRAGMENTED_EPIPHYSES KIF22 COL9A1 COL9A2 COMP COL9A3 HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_UPPER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_UPPER_LIMBS TFAP2B GDF5 A2ML1 RECQL4 SALL4 NOG PTPN11 BICRA GTF2I CTBP1 HDAC8 B3GALT6 HOXA13 B3GAT3 COLEC10 SMAD6 RIT1 SMOC1 DONSON GTF2IRD1 COLEC11 CLIP2 KRAS BMPR1B DYNC2LI1 EVC POR FLNA ABHD11 RAF1 CHSY1 BCOR MECOM GSC LETM1 ELN NSD2 FGFR3 TBX22 GLI1 EIF4H FGFR2 LAT2 DHODH STX1A MYH3 CBL CHST3 HOXA11 NONO PAX3 RRAS HOXD13 SOS2 FBLN1 TBX5 MASP1 MLXIPL BRD4 BUD23 TCF12 NXN METTL27 NIPBL TBL2 SOS1 PIEZO2 LIMK1 CLDN3 MAP3K7 BHLHA9 SF3B4 BAZ1B XYLT1 NRAS IHH FGFR1 EVC2 MAF TBX15 MRAS KAT6B CYP26B1 SMC3 LZTR1 B4GALT7 ROR2 ZIC1 WNT7A SMC1A GTF2IRD2 PQBP1 FGFRL1 ESCO2 MACROH2A1 RPL26 CPLX1 CANT1 PITX1 NCF1 ATP7A RFC2 FKBP6 TWIST1 CLDN4 APC PTDSS1 FLNB FGF9 RASA2 DNAJC30 ANAPC1 VPS37D FGF16 RRAS2 SETBP1 TMEM270 BCL7B RBM8A LRP4 RAD21 HP_SYNOSTOSIS_OF_JOINTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOSTOSIS_OF_JOINTS ATP7A A2ML1 RAD51 SALL4 GPC4 GTF2I HDAC8 B3GALT6 COLEC10 RIT1 MAFB FGFR2 GDF5 MEOX1 SUFU GTF2IRD1 GDF6 KRAS NTN1 DKK1 BMPR1B DYNC2LI1 RAF1 ROR2 OFD1 KANSL1 TPM2 BCOR NSD2 SMOC1 NOG DHODH TBX4 ANKRD11 MYH3 CBL CHST3 FKRP RBM8A ACVR1 SOS2 FBLN1 HES7 PAX3 TCF12 MASP1 NXN METTL27 NIPBL TBL2 SOS1 RECQL4 MAP3K7 SH3TC2 BHLHA9 FLNA NRAS NOTCH3 SALL1 HOXD13 FGFR1 GLI3 MAF COLEC11 CYP26B1 PCNT GPC3 ZIC1 FGFR3 TFAP2A PQBP1 KAT6B FGFRL1 TBX22 DONSON CHRND NONO CPLX1 DLL3 PTCH1 NCF1 TBX6 RFC2 TWIST1 PUF60 APC COL2A1 DNAJC30 FGF16 RRAS2 SETBP1 FN1 POR BCL7B CHRNG LRP4 EVC2 CHN1 RAD21 TFAP2B PTPN11 BICRA CTBP1 ENPP1 HOXA13 B3GAT3 FANCI SMAD6 SMAD4 HGD SLC26A2 DCC CLIP2 EVC ABHD11 PTCH2 CHSY1 IL1RN MECOM GSC LETM1 ELN NADSYN1 WBP11 GLI1 EIF4H LAT2 DNAL4 STX1A HOXA11 RRAS AFF4 FUZ TBX5 MLXIPL BRD4 MYO18B BUD23 SOX5 RIPK4 NALCN VANGL1 PIEZO2 LIMK1 CLDN3 SIX6 SF3B4 BAZ1B XYLT1 ABCC6 LMBR1 IHH TBX15 MRAS TNNT3 MESP2 GDF3 SMC3 LZTR1 TNNI2 B4GALT7 WNT7A SMC1A GTF2IRD2 ESCO2 MACROH2A1 RPL26 CHRNA1 CANT1 PITX1 BMPER MKKS FKBP6 CLDN4 PTDSS1 FLNB FGF9 RASA2 ANAPC1 SOX2 VPS37D FGD1 TMEM270 PTH1R HP_SARCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SARCOMA RB1 RPS28 NF1 KEAP1 NRAS RPS15A BUB3 BUB1B ADA2 PRLR SUFU WRN PTEN LMNA RPL18 KRAS IDH1 CDKN2B APC ELMO2 FH RPL35 AKT1 RPL35A FGFR3 FAS DHCR24 SPTBN1 PIK3CA GATA1 PTPRJ BAP1 SDHB MAP2K1 COL1A1 EWSR1 SDHA SQSTM1 PTPN11 CCND1 TSC2 SSX1 TSR2 DLC1 FOXC2 MSH6 EP300 RPS27 PLCD1 AXIN2 ANTXR2 KLLN PTH1R EXT1 PDGFB GREM1 SDHC TSC1 TP53 PDGFRA CHEK2 ABCA5 FLCN CTNNB1 RPS20 RPL5 VEGFC NOTCH3 RSPRY1 WT1 MLH1 BMPR1A MTAP NR4A3 HRAS IFNG EXT2 COL4A6 REST MSH2 RPS29 TRAF7 DCC RPS10 LRP1 RPS26 RAD54B PRKAR1A SSX2 BMPR1B RPL26 BRAF COL4A5 PDGFRB CDKN1B FOXO1 KIT CDKN2A FLT4 MDM2 USF3 RPS24 PTCH1 RECQL4 SRC AURKA PAX3 DICER1 RPL27 BUB1 RASGRP1 SMARCB1 CASP10 KCNH1 KRT17 TLR2 FLNA TBX18 NBN ATP6V1B2 RPL15 MEN1 SPRED1 RPS19 PAX7 NF2 SMARCE1 MCC NUTM1 RPS7 GJC2 SDHD GDF5 PDGFRL FAM20C SMO PTCH2 RPL11 TERT TAF15 BAX SEC23B CDC73 CEP57 BRD4 RPL31 IDH2 PTPN12 MLH3 KCNN3 PRKCD SOS1 CDKN2C CDKN1A ANAPC1 TRIP13 FASLG GNAS ASPSCR1 PLA2G2A RPS17 MC1R SLC22A18 HP_LEIOMYOSARCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEIOMYOSARCOMA DCC PIK3CA SRC AURKA PTPRJ RAD54B APC BUB1B CCND1 CHEK2 BAX FLCN DLC1 TP53 BUB1 FH MCC NRAS PLA2G2A PTPN12 CTNNB1 EP300 AKT1 MLH3 FGFR3 PDGFRL AXIN2 BRAF TLR2 HP_FIBROSARCOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FIBROSARCOMA APC GREM1 COL1A1 BMPR1A MTAP PDGFB CTNNB1 FOXC2 HP_METAPHYSEAL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METAPHYSEAL_DYSPLASIA CWC27 RUNX2 LONP1 AIFM1 NKX3-2 EXTL3 DNAJC21 SRP54 POP1 POLE UFSP2 ACP5 EIF2AK3 GJA1 CDKN1C MMP13 FGFR3 EFL1 RMRP PIK3C2A SBDS COL10A1 DYM TMEM165 COL2A1 ALG3 SFRP4 TGFB1 PTH1R GPX4 HDAC6 HP_SENILE_PLAQUES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SENILE_PLAQUES MAPT GRN PSEN2 PSEN1 PRNP APOE TMEM106B C9orf72 CHMP2B ABCA7 TREM2 VCP HP_ECTRODACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECTRODACTYLY JPH1 NSD2 ARHGAP31 HSD17B4 MORC2 CTBP1 TP63 RBPJ ITGB6 GDAP1 GNPTAB EOGT PLAG1 DLL4 GLI3 PMP22 DLX5 FGFR1 PORCN NEFL CDH3 DLX6 BHLHA9 SBF2 CPLX1 BTRC LETM1 ROR2 DHCR7 AHSG MBTPS2 MED12 ARSB WNT7A MPZ IGF2 FGFRL1 IDS SEM1 LSS WNT10B HSPB1 NOTCH1 HMGA2 CTDP1 SLC52A2 NELFA SVBP CDKN1C DOCK6 EPS15L1 TBX5 FGFR3 HINT1 FGFR2 INF2 MMP2 TCTN3 NXN BSCL2 NDRG1 EGR2 SIGMAR1 PIGG PRX IRF6 HP_PREAXIAL_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREAXIAL_POLYDACTYLY NSD2 TMEM107 SALL4 TFAP2A RAB23 KIAA0586 CTBP1 COLEC10 MAFB TMEM231 KIF7 GLI3 CDC45 OFD1 EFTUD2 WDR35 HOXD13 TCTN3 CPLX1 MEGF8 LETM1 C2CD3 RPGRIP1 DYNC2I1 CENPF TCTN1 TMEM216 NELFA B9D2 NEK1 IFT80 FANCD2 BMP4 CSPP1 DYNC2I2 FGFR2 MKS1 NEK9 GJA1 DACT1 DYNC2H1 HYLS1 FLNA PHF8 SALL1 LMBR1 CPLANE1 SMO CC2D2A BHLHA9 PDE6D ZNF699 IFT57 ZSWIM6 CEP120 GLI1 RPGRIP1L FGFR3 FGFRL1 INTU EXTL3 TMEM67 SHH FGF10 B9D1 PUF60 FAM149B1 PITX1 KIAA0753 CTU2 TCTN2 TXNDC15 IFT43 PIGG CHN1 CILK1 TMEM237 CEP290 HP_POSTAXIAL_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POSTAXIAL_POLYDACTYLY CEP120 TCTN2 DYNC2LI1 GPC4 MKKS KIAA0586 TMEM231 ALX3 GLI1 KIF7 BBS1 ARL6 HYLS1 DDX59 HNRNPK GLI3 NPHP3 OFD1 WDR19 SC5D RAB23 BBS7 TBX3 MBTPS2 IFT80 BBS12 TCTN3 C2CD3 TMEM216 CRB2 IFT27 MKS1 NPHP1 SMOC1 DYNC2I1 IFT43 TCTN1 RPGRIP1L BMP4 PRKACA CCDC28B CSPP1 GLI2 DYNC2I2 BBS5 B9D2 SMO EVC TBX1 TMEM67 ZNF141 DYNC2H1 IFT74 LMBR1 IQCE OTUD5 INPP5E BBS9 FGFR2 WDPCP TMCO1 KIAA0753 SCAPER BHLHA9 NEK1 CEP290 GPC3 TOGARAM1 CC2D2A CFAP418 KIAA0825 RBM10 INTU PLAA NKX2-6 LBR WDR35 SHH MEGF8 COG6 SUFU B9D1 BMPR1B HOXD13 GDF5 EBP GDF6 IFT172 CPLANE1 BBIP1 FLNA TXNDC15 IFT140 EVC2 IFT52 GATA6 TMEM237 NKX2-5 PIK3R2 TMEM107 LZTFL1 HOXA13 PRKACB USP9X KIF3B AKT3 RPGRIP1 WNT7A CIBAR1 NCAPG2 TTC21B CCND2 UQCC2 PPP2R1A DHCR7 BBS2 PORCN TGFBR1 SETBP1 SETD5 SYNGAP1 SDCCAG8 IFT57 TGFBR2 EXTL3 TTC8 CD96 CTU2 ARMC9 PDE6D CHST11 BBS4 TRIM32 CEP19 IFT81 CILK1 BBS10 HP_MESOAXIAL_POLYDACTYLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MESOAXIAL_POLYDACTYLY CPLANE1 FAM149B1 KIF7 GLI3 CHSY1 MKKS LZTFL1 TCTN3 TMEM216 PDE6D FGFR2 TWIST1 HOXD13 TFAP2B OFD1 KIAA0753 HP_ABNORMAL_TENDON_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TENDON_MORPHOLOGY ERCC2 ATR LARGE1 RNU4ATAC LMBR1 PIGA LEMD3 ALX3 CCDC47 FAT4 SELENON SH3PXD2B SLC18A3 TPM3 ERCC8 TRPV4 NDE1 DPM1 B3GALT6 SLC9A6 RAB23 KISS1 SVIL PLEC GRID2 DLL1 LMNA TDGF1 MBTPS2 PAX7 PPP2R5D SLC39A14 SLC25A19 MYO9A DHCR24 SMOC1 PIK3CA AIMP2 SPEN SMAD3 SIX3 ZEB2 CHRNE CDK13 IFIH1 MYH3 SAMHD1 HGD PITX1 LMOD3 RBM28 RAPSN EZH2 LIAS MSH2 PLXND1 FOXH1 GJA1 NXN CHRNA1 FGF8 SPG11 TNPO3 CHST14 SLC25A46 NGLY1 HACD1 COL11A1 ITGB4 HOXD13 USP7 GLI2 PRKCZ TACR3 GLI3 OTUD6B SEMA4A ALDH18A1 PIGP SUCLG1 NALCN EMG1 PEX5 SIK3 KBTBD13 CTCF ROR2 MEG3 CDT1 MED12 PEX7 FKRP NOD2 PQBP1 MYH8 PROK2 KRT1 ZDHHC9 OSGEP FGF17 POP1 CREBBP FDFT1 TGIF1 KIF15 CLIC2 MYOD1 GDF5 CNTN1 PIK3C2A DPH1 SETBP1 DHODH COG5 GBA GNS SLC25A1 MTM1 FHL1 KCNJ11 COL6A3 CCN2 PTCH1 DISP1 CHN1 KLHL41 EPB41L1 SPEG NEB PPP1R21 B3GAT3 SHH SCYL2 ACER3 TP63 DVL1 SLC2A10 DCHS1 COASY COG1 POR MPLKIP TCTN3 KDM5C CYP27A1 DNM2 FUCA1 SIL1 ORC4 NPPA KIAA1109 GSC CHAT POMK KIF22 TRPV3 GCK NODAL ANO5 SPRY4 GLUL HRAS GHR ZNF335 ITCH NEFL NKX3-2 SRPX2 PTPN22 TOR1A LDLRAP1 CNTNAP1 PSMB9 GMPPB TPM2 PDX1 IDUA ECEL1 FGFR1 APOE TARS1 MTX2 PI4KA RYR1 ABCG5 FBN1 DHX16 VRK1 LPIN2 DLK1 SLC39A13 PSMB8 TFG SLC39A8 COL6A1 PTPN2 PMM2 SPTBN4 SLC12A6 ATP6V1A CLDN11 MYH7 COL17A1 PIEZO2 TBX4 ACADS HSPG2 PHGDH TBCD EXOSC3 PLEKHG5 MYPN TBX15 POLR3GL SMG9 KAT6B ERLIN2 LAMA2 FERMT1 ZMPSTE24 DDR2 NUP133 AUTS2 FKTN NAA10 RFC1 AIMP1 SDHB GFPT1 DUSP6 NARS1 EXTL3 ADAT3 CPT2 GLE1 CANT1 KY PLOD2 SDHA TUBB3 GBA2 KLHL40 ABCC8 TRIM2 ARX DAG1 POMT2 CAV1 VPS11 EIF5A TWIST2 EXOC8 STIM1 PDPN ADCY6 PAX3 CRYAB SMARCAD1 RPL10 SMPD4 GPC4 NLRP3 MLH1 FLVCR1 POLR3A RIPPLY2 SLC35A3 HS6ST1 ESCO2 MT-TE CCDC32 ERGIC1 BCOR SIGMAR1 CHRNG DNAJB6 APOA2 RTTN IDS PROKR2 FKBP10 GAN MYL2 IBA57 MESP2 VAMP1 FITM2 TNNT3 TELO2 ABL1 ALX1 CHST3 ACTA1 PERP BMP4 HPDL GORAB TRIP4 B4GALT7 EED RNF113A TGFBR1 SLC6A9 TSEN54 SH3TC2 CUL4B MUSK FLNA TOR1AIP1 SLC1A2 ZC4H2 MAP3K7 CDC6 SPRTN PHACTR1 ZBTB20 OPA1 IGHMBP2 P4HTM MYBPC1 SLC10A7 MPDU1 RPS20 NACC1 WDR45B SYNE1 PLOD1 ERCC6 PIGS ERCC3 GPC3 DPAGT1 SUZ12 PPP3CA NT5C2 TFAP2A CDC42 LUZP1 TGDS MMP1 IKBKG SYNE2 MTMR14 KCNJ6 CHRNB1 ALG1 TNNT1 TTN LAGE3 NDUFAF4 PSMB4 SLC26A2 CRKL FOXP1 GBE1 GTF2H5 ALG3 CD247 TGFB3 LAMC2 ZPR1 NOG VPS33B RNASEH2C SMAD4 COL12A1 STAG2 PRUNE1 GARS1 MRPS34 SCN5A FGFR3 GJB2 ALG8 SNAP25 DOK7 RNASEH2A MEGF8 NSD1 DARS2 ORAI1 COL3A1 PCNA POLD1 MSH6 KLHL7 ADGRG1 CCBE1 NUP88 DST ATP6V1E1 F8 CCDC22 HSPD1 GRIA4 LTBP4 SNRPB ZIC2 HES7 CCR6 EXOC2 MYO18B STAT3 EPCAM SMC1A NKAP ASXL1 MAPK1 IL6ST SALL4 PYCR2 PIGY WDR73 XYLT1 HLA-DRB1 KLC2 CLCF1 VPS33A PMS1 WIPI2 MAF RIPK4 FBN2 LDLR KCNN3 BIN1 KIF1A ALS2 POMT1 VWA1 UROS PTH1R RAB3GAP2 TAPT1 TGFBR2 ABCD1 ZBTB42 STAC3 STAT4 KL SKI SGCA CDH3 TRAK1 ATRX POU3F4 TGM1 PTDSS1 COL7A1 BRF1 CTDP1 MAP3K20 PLOD3 LAMB3 ORC6 ERCC4 AP4S1 SNX14 RFT1 FUS BGN WNT7A GNRH1 ANKLE2 RTL1 MYL1 IRF5 SATB2 IARS2 GNB2 LFNG CFL2 ITGB6 TBC1D2B TTR PLP1 KIF5A PDHA1 AP4E1 MAN1B1 ALG9 MMP23B TMEM107 FCSK ANTXR2 FAM20C BANF1 RAB18 GDAP1 PMS2 SGCG ZNF469 KIAA0753 CAPN3 EFNB1 OCRL ERLIN1 SCN4A MLH3 WDR11 MECP2 COL11A2 SLC16A2 SOX10 NUP188 AIFM1 GNPAT ERCC1 MEGF10 NEDD4L PYCR1 SYT1 OTUD5 WDR4 CACNA1E ERBB3 GUSB EMD CARS1 RERE SLC35A2 PYROXD1 SMS PORCN MAFB COL1A2 PIGN UNC80 AHSG COL13A1 DVL3 DPM2 PIP5K1C HUWE1 ACADM PHF6 GMNN MYLPF SYT2 CEP55 C19orf12 BCR MMP2 TP53RK ADAR PCSK9 PSTPIP1 ITGA7 TMEM70 DNA2 PSAT1 ORC1 DYRK1A SDHAF1 LAMA3 CD244 CIITA SLC29A3 TREX1 ASCC1 NIPBL NSDHL IL10 NUP107 CDON SEC31A ATAD1 SHPK RNF13 COL6A2 SETD2 UBE4B KIF5C UBA1 MAGEL2 SCARF2 NSMF COQ7 DCX PPT1 LGI4 SLC22A4 TBX3 ELN CCN6 PLAA GTF2E2 GPKOW GFM2 FAN1 FGFR2 LSS TBC1D20 TBR1 BRAT1 PRKCG BAG3 KCNK9 KIDINS220 ALG13 UCHL1 FGD1 PMP22 REV3L FZD2 LZTR1 EP300 SLC5A7 TAC3 HS2ST1 SDHD GAD1 TENT5A BMPR1A VIPAS39 FLVCR2 EXOSC9 ERCC5 ZNHIT3 MFN2 KRAS GCH1 APOB FBXW11 ALG14 LMX1B NEK9 FANCC DMD MYOT BICD2 WNT5A EPHX2 TMEM43 APC2 LMNB1 SPART TPRKB GAS1 CDK5 BRPF1 CRPPA KIF14 LIFR WDR26 CHD7 DLL3 MORC2 CHMP1A ANKRD55 DYM MYMK KLHL9 MTRFR AMER1 RNASEH2B ECE1 ALAD ADAMTS3 MED13L CHRND DSE SMARCA2 UFC1 YY1 COL2A1 PEX6 LONP1 ACTG2 HBA2 MSL3 VMA21 PIGL HINT1 ARID1B ELOVL4 DSP TNNI2 MED25 ALG2 FIG4 ARL6IP1 ADAMTSL2 PRG4 KDELR2 GNPTAB L1CAM DDHD2 NFKBIL1 UPF3B EXOSC8 KIAA0319L AP1S2 TTPA CACNA1A GNRHR IL2RB IL2RA ITGA6 FUT8 NCAPG2 CRLF1 KCNAB2 SON AGRN ASXL3 FLRT1 DEGS1 KISS1R MLXIPL CAVIN1 BHLHA9 TRPS1 PLA2G6 PEX2 NSUN2 CDC45 PEX1 PRDM5 ABHD12 MYH2 AP4B1 GJB1 ADGRG6 FIBP CASZ1 H1-4 PRDM16 INS HBA1 EXOC7 PTRH2 JUP PPP1R17 PNPT1 VPS53 EXOC6B ALG12 SLC1A4 THOC6 SRD5A3 HIKESHI RAB3GAP1 ABCG8 ASAH1 PSMG2 SEPSECS GABRD PIK3R2 RIC1 HP_SYNOSTOSIS_INVOLVING_DIGITS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOSTOSIS_INVOLVING_DIGITS BHLHA9 TFAP2B NOG PCNT RECQL4 CHSY1 GDF5 NONO IHH PTDSS1 ANAPC1 PQBP1 BMPR1B HP_DISTAL_SYMPHALANGISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISTAL_SYMPHALANGISM TFAP2B NOG IHH PCNT GDF5 BMPR1B HP_PROXIMAL_SYMPHALANGISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROXIMAL_SYMPHALANGISM BHLHA9 NOG CHSY1 GDF5 NONO PTDSS1 PQBP1 HP_SYNOSTOSIS_OF_METACARPALS_METATARSALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOSTOSIS_OF_METACARPALS_METATARSALS NOG BHLHA9 TCF12 TWIST1 POR NONO SALL1 HOXD13 ZIC1 FGF9 SLC26A2 FGFR3 PQBP1 GDF5 FBLN1 FGF16 SMOC1 HP_SYNOSTOSIS_OF_CARPALS_TARSALS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOSTOSIS_OF_CARPALS_TARSALS GDF5 FLNA SALL4 NOG HOXA13 FGFR2 SMOC1 LMBR1 GDF6 MYH3 GLI3 EVC2 BMPR1B DYNC2LI1 EVC POR OFD1 TNNT3 CHSY1 BHLHA9 TPM2 FGFR1 TNNI2 ROR2 ATP7A ESCO2 GLI1 MACROH2A1 B3GALT6 TBX4 PITX1 MKKS PAX3 APC FLNB HOXD13 FGFR3 FBLN1 MAP3K7 NALCN NXN RBM8A RECQL4 LRP4 HP_LIP_PIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIP_PIT NECTIN1 IRF6 OFD1 RIPK4 EYA1 KDM6A TFAP2A SIX1 GRHL3 MSX1 TP63 KMT2D HP_NEOPLASM_OF_THE_COLON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_COLON MLH1 SH3KBP1 RPS28 APC RNF43 RPS15A BMPR1A BUB3 RPL27 CDKN2A BUB1B BRCA2 BUB1 ADA2 RPL18 AXIN2 SMAD4 KRAS DMPK POLD1 AAGAB RPL35 MUTYH RPL35A PMS2 RABL3 COL14A1 MSH6 MSH2 PIK3CA GATA1 TGFBR2 KIT NTHL1 SDHA TP53 STK11 RPL15 ENG FOXE1 TSR2 RPS19 MLH3 RPS7 MSH3 EPCAM MINPP1 RPS27 RPL11 GREM1 PMS1 PDGFRA SMAD7 CHEK2 SEMA4A RPS20 RPL5 CEP57 RPL31 FAN1 PALLD BRCA1 POLE RPS29 SDHB RPS10 RPS26 SDHC PRKAR1A RPL26 BLM TRIP13 FLCN MDM2 HABP2 PTEN RPS17 RPS24 PALB2 HP_DIFFUSE_CEREBELLAR_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DIFFUSE_CEREBELLAR_ATROPHY TXN2 TARS1 PEX10 CARS2 ERCC3 TBC1D24 BTD RNF113A EMC1 FMR1 DAB1 GTF2H5 KIF1A ERCC2 MPLKIP GTF2E2 HP_SKIN_PIT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_PIT SIX1 GATA6 TBX1 TFAP2A CTBP1 EYA1 SUFU PAX1 KMT2D JAG1 GDF1 PTCH1 PTCH2 OFD1 RAB23 GSC KDM6A LETM1 WBP11 IRF6 NSD2 RIPK4 EIF2AK3 GRHL3 TP63 STAG2 PLCB4 EDN1 GATA5 MITF CITED2 XYLT2 ATP2A2 ZFPM2 NKX2-5 FLT4 EDNRA CIB1 SYK KAT6A GPC4 GATA4 NKX2-6 NECTIN1 GNAI3 KRT5 SALL1 MSX1 POGLUT1 SPECC1L AUTS2 PPP1CB GPC3 ZNF462 HK1 FGFRL1 HNRNPK CPLX1 LRP1 GJA5 ANK1 B3GLCT POFUT1 PSENEN KCNJ2 UBE2A HP_PERIAURICULAR_SKIN_PITS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIAURICULAR_SKIN_PITS SIX1 EYA1 GATA6 PAX1 TBX1 TFAP2A CTBP1 GNAI3 SALL1 KMT2D JAG1 GDF1 RAB23 SPECC1L AUTS2 NKX2-5 PPP1CB GSC LETM1 GPC3 WBP11 NSD2 ZNF462 EIF2AK3 ZFPM2 HK1 FGFRL1 HNRNPK STAG2 PLCB4 CPLX1 EDN1 KDM6A LRP1 GATA5 MITF CITED2 XYLT2 GJA5 ANK1 B3GLCT FLT4 EDNRA KCNJ2 SYK UBE2A KAT6A GPC4 GATA4 NKX2-6 HP_ULCERATIVE_COLITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ULCERATIVE_COLITIS BACH2 NOD2 MASP2 MST1 TCF4 SLC37A4 SEMA4D INAVA CYBC1 MAP3K7 GPR35 PLCG2 IL6 IL37 HP_CROHN_S_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CROHN_S_DISEASE BACH2 INAVA CYBC1 NOD2 IGHM IL10RA IL21 PSTPIP1 IL6 CTLA4 SYK MEFV HP_EMG_MYOTONIC_DISCHARGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMG_MYOTONIC_DISCHARGES DMPK GNE SCN4A SGCG LRP12 HP_EMG_IMPAIRED_NEUROMUSCULAR_TRANSMISSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMG_IMPAIRED_NEUROMUSCULAR_TRANSMISSION SPEG DPAGT1 OPA1 COLQ AK9 ALG14 CHRNE SLC18A3 GMPPB RYR1 VAMP1 BIN1 GFPT1 SNAP25 CHAT CHRND COL13A1 MUSK CACNA1D CHRNB1 LRP4 AGRN TTN SCN4A CHRNA1 SYT2 MYO9A RAPSN LAMB2 NOTCH2NLC SLC25A1 SLC5A7 DOK7 ALG2 HP_EMG_SLOW_MOTOR_CONDUCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EMG_SLOW_MOTOR_CONDUCTION DMXL2 ATL3 ATL1 SPTLC2 SPTLC1 HP_MUSCLE_FIBER_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_FIBER_ATROPHY SPTBN4 HACD1 MYH7 COLQ RYR1 ACTA1 EMD ORAI1 TK2 SLC18A3 TPM3 CHRNA1 CNBP LAMA2 POLG VAMP1 PLOD1 TRAPPC11 SIGMAR1 FHL1 SNAP25 ALS2 CHAT SYNE1 CASQ1 PNPT1 SELENON LMNA COL13A1 GFPT1 CPT2 ANO5 IFIH1 ALG14 ACTN2 ALDOA HNRNPK MYL2 TPM2 STAC3 SYNE2 AGRN CHRNE SARS2 TMEM43 SYT2 MYO9A MAP3K20 VPS13A TTN LAMB2 SLC25A1 STIM1 TRIP4 SLC5A7 SPG11 FUS HNRNPA2B1 ITGA7 HP_INCREASED_ENDOMYSIAL_CONNECTIVE_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_ENDOMYSIAL_CONNECTIVE_TISSUE COL6A3 COL12A1 MYOT ANO5 GIPC1 LAMA2 COL6A2 TOR1AIP1 COL6A1 NOTCH2NLC MYH7 SGCG HP_MUSCLE_FIBER_INCLUSION_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_FIBER_INCLUSION_BODIES TPM2 DPAGT1 MYH2 NEB ALG14 CFL2 NDUFB3 RYR1 ORAI1 ACTA1 HNRNPA1 GNE PYROXD1 MYPN CRYAB GMPPB TPM3 KBTBD13 NEFL CASQ1 FLNC KLHL41 GFPT1 KY MYOT KLHL40 LMOD3 MYO18B TNNT1 STIM1 ALG2 HP_MUSCLE_FIBER_TUBULAR_INCLUSIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUSCLE_FIBER_TUBULAR_INCLUSIONS CASQ1 DPAGT1 GFPT1 ALG2 ALG14 ORAI1 STIM1 GMPPB HP_CEREBRAL_CORTICAL_HEMIATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_CORTICAL_HEMIATROPHY MBTPS2 MYO5A ACTB ACTG1 TCTN3 EHMT1 HP_SUBDURAL_HEMORRHAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBDURAL_HEMORRHAGE F8 ERCC6 ERCC8 MMACHC GCDH HP_CEREBRAL_INCLUSION_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_INCLUSION_BODIES HNRNPA1 MAPT GBA PRDM8 ABCA7 TOMM40 SNCA NHLRC1 APOE RAB39B NR4A2 NOS3 C19orf12 SNCAIP PLA2G6 VPS13C ATXN2 EPM2A NPC1 FBXO7 ATXN8OS PRNP PSEN2 ADH1C LRRK2 GRN HFE CYLD VPS35 GLUD2 MPO APP SORL1 DNAJC13 TBP EIF4G1 TREM2 TIA1 VCP PSEN1 NPC2 SNCB HNRNPA2B1 ITM2B PLAU GIGYF2 HP_LEWY_BODIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEWY_BODIES MAPT GBA GLUD2 SNCA DNAJC13 TBP EIF4G1 TIA1 RAB39B NR4A2 LRRK2 C19orf12 SNCAIP PLA2G6 VPS13C ATXN2 FBXO7 SNCB ATXN8OS ADH1C GRN GIGYF2 VPS35 HP_ABNORMAL_DENTATE_NUCLEUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_DENTATE_NUCLEUS_MORPHOLOGY ERCC6 CYP27A1 ERCC8 WDR81 CP DPM1 PDGFRB ATN1 SLC20A2 FTL PDGFB HP_JUVENILE_ASEPTIC_NECROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JUVENILE_ASEPTIC_NECROSIS ATP7A TRPS1 MATN3 DYRK1A ACTB SIL1 SMAD3 COL1A2 CREBBP COL2A1 KRAS UNC45A ACAN DVL1 WNT5A DVL3 ACTG1 ORC1 ADAMTSL2 SRCAP TREX1 INPP5K COMP FZD2 COL1A1 EP300 FN1 UFSP2 ADAMTS2 SLC2A10 PHF6 TRPV4 TONSL LMX1B FGFR1 EXT1 HP_SCLERODERMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCLERODERMA LBR SLC29A3 UROS WRN SLC12A3 HFE PAH POLD1 LEMD3 UROD CLCNKB LMNA HP_IMMUNOLOGIC_HYPERSENSITIVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IMMUNOLOGIC_HYPERSENSITIVITY SEC24C BICRA HLA-DQB1 IL12A GP1BB UBAC2 COMT SOCS1 IL23R JMJD1C VPS51 MUC7 ARL6 TNPO3 CTLA4 SPINK5 CDSN ERCC2 SIX3 FGFR1 IL4R SRCAP GP1BA MEFV CCR1 HLA-DPB1 KLRC4 FOXP3 CBL IVNS1ABP WAC GLI2 IGF2 ARSL COX4I2 IL13 CDH3 C4A IDS LMX1B SPTBN1 NEK9 PGM3 HMGA2 FAS RUNX1 SCN4A SRSF2 TNF DDX41 CREBBP ADA IL12RB1 NSUN2 JAK1 STAT5B HLA-B DOCK8 AFF4 CDKN1C DNASE1L3 CCDC28B GPR35 HNMT MLXIPL CSTA TGIF1 CARD11 SCGB3A2 IL6ST HIRA STAT3 TLR4 EP300 FGF8 ALOX5 LIFR BCL11B TBX1 NKX2-1 MTOR ODC1 TRAIP MIA3 ZIC2 TCF4 IL10 ALMS1 CDON USP7 PLAG1 MMEL1 PLCG2 ALG9 ELN UFD1 LIG4 HLA-G ODAD3 TBCK BBS1 SIK3 CARMIL2 LRBA MST1 STXBP1 TGM5 FLG TNFSF15 FOXH1 ZNF699 PTGER2 PTCH1 FCGR2A IRF5 STAT4 SATB2 GP9 IL12A-AS1 CFTR PEPD SDHD SHH GRHL2 SOX6 CCL11 ADRB2 HLA-DQA1 PEX5 NOD2 ARVCF TGFB1 SEMA4D NODAL TDGF1 POU2AF1 UNC45A TET2 NFKB2 MS4A2 SLC27A4 ERAP1 FOXP1 TBX21 ELOVL4 DLL1 RREB1 GTF2H5 PLA2G7 DISP1 CASP8 RBM8A SPIB GAS1 CHD1 SUFU RIC1 TALDO1 PSTPIP1 ASXL1 HP_UNILATERAL_CLEFT_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNILATERAL_CLEFT_LIP KAT5 SMAD4 TAPT1 GDF11 SUMO1 HYLS1 KIF7 HP_UNILATERAL_CLEFT_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UNILATERAL_CLEFT_PALATE KAT5 CDH1 MSX1 GDF11 IRF6 CDH11 SUMO1 ARHGAP29 DLX4 BMP4 TP63 DLG1 NECTIN1 HP_NON_MIDLINE_CLEFT_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NON_MIDLINE_CLEFT_LIP SMPD4 SHH TFAP2A DLX4 PIGN SIX3 FGFR1 FGF20 HYLS1 DDX59 STIL HOXD13 IRF6 GDF11 GLI2 SF3B4 RET RSPO2 DISP1 SMAD4 FGF8 TAPT1 SPOP ZIC2 YAP1 KAT5 TP63 NBN CTNND1 CDH1 MSX1 PTCH1 B3GALT6 NECTIN1 SUMO1 DHODH ITGA8 GREB1L GJA1 KIF7 CHUK HP_BILATERAL_CLEFT_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_CLEFT_LIP SMPD4 SHH TP63 ZIC2 DLX4 CTNND1 SIX3 CDH1 GLI2 FGFR1 DISP1 MSX1 PTCH1 STIL IRF6 NECTIN1 RSPO2 FGF8 CHUK SPOP YAP1 HP_BILATERAL_CLEFT_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILATERAL_CLEFT_PALATE CDH1 MSX1 PTCH1 NECTIN1 IRF6 DLX4 CTNND1 ARHGAP29 GLI2 SLC26A2 BMP4 TP63 CHUK SPOP DLG1 YAP1 HP_NON_MIDLINE_CLEFT_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NON_MIDLINE_CLEFT_PALATE KAT5 CDH1 MSX1 PTCH1 GDF11 NECTIN1 IRF6 DLX4 CTNND1 CDH11 SUMO1 ARHGAP29 GLI2 SLC26A2 BMP4 TP63 CHUK SPOP DLG1 YAP1 HP_CONTRACTURES_OF_THE_JOINTS_OF_THE_UPPER_LIMBS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONTRACTURES_OF_THE_JOINTS_OF_THE_UPPER_LIMBS ERCC2 ATR LMBR1 RTL1 IRF5 GNB2 LFNG ALX3 SH3PXD2B FBN1 TBC1D2B COL12A1 TPM3 TRPV4 KIF5A B3GALT6 RAB23 SVIL CAV1 MMP23B MBTPS2 ANTXR2 DHCR24 SMOC1 SPEN FGFR3 MYH3 EFNB1 OCRL PITX1 MECP2 EZH2 ERCC1 GJA1 NXN SPG11 MEGF10 PYCR1 WDR4 HACD1 COL11A1 EMD TBX15 HOXD13 RERE PRKCZ SLC35A2 PYROXD1 HSPG2 ALDH18A1 PORCN MAFB NALCN EMG1 PEX5 SIK3 ERGIC1 CTCF ROR2 MEG3 UNC80 CDT1 MED12 NOD2 PQBP1 TPM2 ZDHHC9 FDFT1 ASXL1 GMNN MYOD1 OSGEP MYLPF CNTN1 PIK3C2A BCR DHODH MMP2 COG5 TP53RK SLC26A2 COL6A3 CCN2 PSTPIP1 ITGA7 B3GAT3 TMEM70 TP63 CAPN3 SELENON DVL1 ORC1 FAT4 POR DYRK1A KDM5C ORC4 LAMA3 KIF22 LMNA ANO5 NIPBL ITGB4 NUP107 NEFL TOR1A FHL1 SETD2 UBE4B IDUA ECEL1 DHX16 DLK1 SLC39A13 SCARF2 PSMB8 PIEZO2 SLC39A8 LGI4 COL17A1 RPL10 COL6A1 FBN2 PLEKHG5 TBX3 CCN6 POLR3GL SMG9 GPKOW ERLIN2 FERMT1 DDR2 NUP133 AUTS2 TGFBR2 NAA10 SLC29A3 EXTL3 SKI ADAT3 CPT2 RAPSN CANT1 TBR1 PHGDH CHRNG PLOD2 KCNK9 TUBB3 GDF5 FGD1 COL11A2 PMP22 FZD2 TWIST2 COL6A2 PDPN PAX3 HS2ST1 GPC4 WDR73 NLRP3 BCOR SLC25A46 FLVCR1 RIPPLY2 SLC35A3 ESCO2 GLI3 SIGMAR1 NUP88 FBXW11 RTTN FKBP10 LMX1B IDS MYL2 MESP2 ALX1 CHST3 WNT5A FKTN BMP4 TMEM43 APC2 TPRKB TGFBR1 LAMA2 SMARCAD1 SLC6A9 LIFR CUL4B MUSK FLNA DLL3 MORC2 ACTA1 MAP3K7 CDC6 SPRTN IGHMBP2 AMER1 P4HTM MYBPC1 PLOD1 ERCC6 GPC3 ECE1 ADAMTS3 TFAP2A ZMPSTE24 LUZP1 TGDS IKBKG SYNE2 SHH PEX6 TNNT1 LAGE3 ACTG2 PIGL CRKL HINT1 ARID1B GTF2H5 RNU4ATAC TNNI2 MED25 TGFB3 LAMC2 ADAMTSL2 PRG4 NOG L1CAM SLC18A3 FGFR2 HLA-DRB1 UPF3B KIAA0319L TNNT3 GJB2 DOK7 NSD1 SYNE1 CCBE1 CRLF1 ALG3 C19orf12 KCNAB2 KY ASXL3 SNRPB HES7 SMC1A TRPS1 MAPK1 IL6ST CDC45 PEX1 UBA1 PIGY XYLT1 SUZ12 POLR3A CLCF1 DVL3 CCR6 CASZ1 COL2A1 PRDM16 ALS2 PTRH2 UROS LARGE1 EXOC6B ERCC5 CDH3 SMAD3 SRD5A3 PTDSS1 CTDP1 RAB3GAP1 MAP3K20 PLOD3 LAMB3 TCTN3 ORC6 EED GABRD FUS WNT7A KAT6B HP_ABNORMALITY_OF_LOWER_LIMB_JOINT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_LOWER_LIMB_JOINT ATR ATP7A COL1A1 MKKS NF1 CCDC47 SH3PXD2B ADGRG1 HERC2 SLC18A3 TPM3 GLI1 RTN2 MMP13 KMT2D CLCN5 TRIP11 TGFB1 DPM1 B3GALT6 DDRGK1 RAB23 KANSL1 SVIL TPM2 GORAB NTRK1 DLL1 TDGF1 OBSL1 COL1A2 PPP2R5D SLC39A14 MYO9A SMOC1 MATN3 TBX4 SMAD3 PUS3 SIX3 GABRG2 ZEB2 RBM8A KIF5A MEFV FLNB GPHN TRPV4 EYA1 RPS15A FOXH1 CSGALNACT1 FGF8 TUBB3 SPG11 ALDH18A1 RPL13 NOG ERCC4 MAP2K2 CRTAP BHLHA9 MIR140 NGLY1 AKT1 HACD1 CANT1 IL2RB FIG4 HOXD13 GLI2 MYH3 GLI3 CYP27B1 TMTC3 NDN LOXL3 SIK3 RSPRY1 RMRP STXBP1 NANS VAC14 ZNF699 ZSWIM6 CDT1 ARSB NOD2 LMNA EXT1 HYAL1 OSGEP NCF1 MEGF8 FDFT1 BMPR1B TGIF1 GLRA1 CYP3A4 COL2A1 PITX1 GDF5 COL9A3 AEBP1 SELENOI FLT4 YWHAE SNRPN COL9A1 COG5 SLC25A1 COL6A3 FLNA BCL7B SLC35A3 PTCH1 DISP1 SELENON RECQL4 BICRA B3GAT3 SHH SMAD6 COMT RAB3GAP2 COL5A1 FGFR3 ATP6AP2 DVL1 ATRX BRCA2 C12orf57 POR CDC45 CHSY1 ORC4 NSD1 CAPN1 GSC CHAT ELN KIF22 ADAMTS2 SCN1A TNFRSF1A NODAL ANO5 EIF4H FN1 LMX1B NKX3-2 PTPN22 KIF1A POLR1A TOR1A AFF4 SLC34A3 CNTNAP1 GMPPB BPTF COL9A2 ECEL1 COL10A1 BRD4 BUD23 HOXA11 ARFGEF2 KAT6A GJC2 HTT COX8A RYR1 DHX16 HIRA SNORD116-1 PSMB8 CLDN3 SLC39A8 COL6A1 PTPN2 TBX1 SPTBN4 SIX1 ATP6V1A FANCB FGFR2 SERPINF1 LMBR1 TBCD EXOSC3 LARGE1 KIF7 TBX15 KAT6B ERLIN2 MAP2K1 DDR2 PWRN1 DPYSL5 VDR SDHB FKBP10 MKRN3 PWAR1 EXTL3 ATP6V1E1 CPT2 ATL1 KY AP4M1 PLOD2 SDHA FGF13 CENPJ SCN9A TRIM2 DAG1 VPS13B ERMARD LAMB2 EIF5A BRCA1 TMEM270 MYH8 CHRM3 RAD51C GPC4 SLC25A46 TRAPPC2 SLCO2A1 GDF6 DYNC2LI1 ESCO2 BCOR COMP SERPINH1 ATAD1 NFIX IL2RA RTTN TIMM22 GAN MYL2 STX1B ADGRV1 TNNT3 TELO2 SLX4 ATP6V0A2 CHST3 GNPTG PRKACA FGFR1 GABRD CYP2R1 SMO EZH2 EFEMP2 METTL27 MBTPS2 MAFB PEPD CDC6 ARID1B PIGL MAP3K7 LMOD3 SLC6A9 REEP1 SHOX SH3TC2 LMNB2 TOR1AIP1 ZC4H2 NIPA1 UBE3B ZBTB20 COLEC11 CBS PTEN P4HTM SLC10A7 PLOD1 GPC3 DONSON MMP1 WDR35 FKRP TRPS1 RFC2 AP3B1 NEB GABRA1 UBE2T EBP STAT4 SLC26A2 COL7A1 ALG9 RAD51 NOTCH2 PSMD12 ORC6 INPPL1 MAP1B CD247 TGFB3 STUB1 FA2H TMEM251 ZPR1 ENPP1 PRKACB COL12A1 STAG2 CLIP2 SPAST SMARCAL1 EVC FANCE ABHD11 GJB2 DSTYK SNAP25 KDM6A LETM1 IFIH1 FBN1 FANCI MYH7 CENPT CTDP1 STX1A CREBBP CCDC8 NEPRO SNRPB ZIC2 FANCL MYO18B BGN BPNT2 NALCN IL6ST PYCR2 PIGY XYLT1 CLTCL1 GNPTAB HACE1 UFD1 RNU4ATAC VPS33A FBN2 SMC3 IFT57 ACTA1 DYNC2I1 PTH1R SOD1 CSPP1 SMC1A GTF2IRD2 TGFBR2 ABCD1 GP1BB HSPG2 POMT1 SKI RPL10 GFPT1 POU3F4 DYNC2H1 ERCC6 CHD4 PTDSS1 ANAPC1 VPS37D MAP3K20 GPC6 HBB CHST11 TCTN3 SCN1B NLRP3 FANCD2 WNT7A COL11A1 ANKLE2 GTF2I HDAC8 IARS2 GNB2 CFL2 KRAS TBC1D2B ANKRD55 DNAJC21 MCTP2 IDUA GEMIN4 AP4S1 ZNF469 UBR7 SOX9 SPTBN1 VCP EFL1 RAB33B ARF1 CTNS GALNS MAN2B1 RAB18 FZD2 DMP1 PYCR1 ZFYVE27 WASF1 OCRL ERLIN1 SFRP4 TBL2 RFWD3 TRAPPC12 EP300 DYSF SLC6A5 MIA3 GUSB COG1 SATB2 CARS1 SLC35A2 VEGFC ERGIC1 CYP7B1 COLEC10 RINT1 PIGN UNC80 COL13A1 EXT2 FGFRL1 MPZ KRT5 CPLX1 KIAA0586 PHF6 PUF60 COL3A1 SYNE1 DNAJC30 GMNN MYLPF SYT2 NEDD4L C19orf12 COL5A2 MMP2 ARNT2 EVC2 IFT52 SHROOM4 RAD21 ANO10 PSTPIP1 ITGA7 DYM SEC24C COLQ SIL1 SCN2A CAPN3 PSAT1 GBA2 JMJD1C ORC1 DYRK1A SAMD9L POMT2 SDHAF1 TNFSF11 EIF2AK3 RUNX2 KLHL41 CUL7 NSDHL OCA2 GJA1 CDON SEC31A FANCA BRAF UBE3A FHL1 DHCR7 FBLN5 SETD2 PORCN TGFB2 SCARF2 LGI4 DPAGT1 ABCC6 GPX4 AP4B1 CCN6 B4GALT7 CEP120 GFM2 USP9X SLC29A3 TONSL ACAN FANCF ERCC1 HPGD BAG3 CHRNG ARVCF PMP22 FGF9 UCHL1 FGD1 RREB1 INPP5K COL6A2 PSAP SLC5A7 CTC1 HS2ST1 SDHD TENT5A LONP1 GTF2IRD1 MFN2 OFD1 CA2 SLC2A10 NSD2 EXOC6B GLB1 DHODH SLC12A2 AP4E1 BICD2 WNT5A FBLN1 APC2 TBC1D7 ADAMTSL2 SPART GAS1 HS6ST1 NIPBL CLCN7 LIFR AARS1 XRCC2 CHMP1A SALL1 GRIA3 GALC IHH KLHL9 AMER1 PKDCC ZMPSTE24 ALAD HRAS HK1 NONO YY1 AFF3 FANCC UFSP2 APC GLRB NRAS PHEX DSP PRMT7 MAGEL2 LRP4 ALG2 MAD2L2 ARL6IP1 KDELR2 CTBP1 NT5C2 ALG14 HGD MCOLN1 TIMM8A MYOT SLC35D1 THOC2 FUT8 THRA NDUFAF6 LAT2 IFT172 AGRN MASP1 EIF4A3 RETREG1 CYP19A1 LIMK1 UBA1 MTX2 FLNC SF3B4 BAZ1B UGP2 PIEZO2 SLC16A2 SLC52A3 PIGT GATA1 DVL3 VAMP1 PTRH2 TNNI2 JUP HCN1 PNPT1 FLI1 PAFAH1B1 PCDH19 AIFM1 CD96 FKBP6 SRD5A3 CLDN4 NPAP1 FANCG MLXIPL ASAH1 BRIP1 PIK3R2 SNORD115-1 FANCM PALB2 WNK1 HP_JOINT_CONTRACTURES_INVOLVING_THE_JOINTS_OF_THE_FEET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_JOINT_CONTRACTURES_INVOLVING_THE_JOINTS_OF_THE_FEET BCOR ERLIN2 ERCC1 MMP1 NT5C2 LIFR CHRNG PHF6 PIEZO2 TBC1D2B COL7A1 FHL1 FGFR3 MYLPF HSPG2 GLI3 AMER1 FBN1 EIF5A MMP2 DSP PIGN MYH3 JUP SCARF2 PSMB8 SLC29A3 PPP2R5D NOD2 TGFB3 FLNA HP_ABNORMAL_MAST_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MAST_CELL_MORPHOLOGY KIT RUNX1 CYP26C1 SRSF2 LYST TET2 CBL ASXL1 HP_DEVIATION_OF_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DEVIATION_OF_TOES MYT1L KMT2E HOXA13 ZMIZ1 CCDC32 GTF2I B3GALT6 FGFR2 MYH3 GTF2IRD1 NTNG1 TGFBR2 C2CD3 ZNF41 WDFY3 TRMT10A SLC9A7 ITCH ZNF81 FRMPD4 CHST3 SLC12A2 ZEB2 ZNF469 BMP2 AGTR2 PTCHD1 ACVR1 ARX GRIA4 COG8 SLC16A2 FTSJ1 PAK3 ACTL6B METTL27 KCNMA1 TBL2 XYLT1 EP300 ERF CWC27 AKT1 HUWE1 HS2ST1 KCNJ2 SALL1 BPTF PUS7 PTPN23 UBR7 SYP PTEN CDKL5 DLG3 COL1A2 RSPRY1 PPP1R15B DLEC1 FGFR3 NONO RLIM YY1 NCF1 ACTL6A RFC2 MAPK8IP3 HPDL USP7 KCNJ5 DNAJC30 DYRK1A BCORL1 KDM4B AEBP1 PSMD12 BCL7B DMD AGO2 ACSL4 ZNF711 IL11RA CNKSR2 PALS1 JARID2 MID2 B3GAT3 TP63 ARHGEF6 CLIP2 WASF1 ABHD11 RAB39B CHSY1 BMPR1B FGFR1 TCF12 GDI1 CKAP2L GBA ELN SLC29A3 RPS6KA3 PIGH HEPHL1 ALG13 EIF4H FLNA ALG3 LAT2 MECP2 NUP107 STX1A USP27X ATP6V1B2 TRIP12 SVBP FHL1 TANC2 MED27 MLXIPL BUD23 EIF4A3 KAT6A TSPAN7 CNOT3 HOXD13 SCARF2 RNF6 PSMB8 DACT1 LIMK1 MED12 TCF20 CLDN3 CREBBP SF3B4 PRDM5 BAZ1B IQSEC2 KAT8 DPYSL5 STEEP1 DDX6 MED13 GDF5 IL1RAPL1 NTNG2 UPF3B ERMARD USP9X FLI1 GTF2IRD2 KCNN3 RBBP8 DOCK3 CLCN4 FKBP6 CLDN4 FGF9 KCNH1 HTT VPS37D SRY HCFC1 TWIST1 TNRC6B TRMT1 CHST11 TMEM270 TRAPPC4 WWOX SATB1 FBXW11 ATL3 SATB2 MADD HP_VITAMIN_B12_DEFICIENCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VITAMIN_B12_DEFICIENCY ABCD1 GRM7 SLC19A1 LMBRD1 AMN CUBN HLA-DQB1 HLA-DQA1 GUCY2C HP_ABNORMALITY_OF_VITAMIN_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VITAMIN_METABOLISM CYP7A1 AMN CYP2R1 ABCD4 MCEE FARSB OTUD5 HLA-DQB1 ACOX2 RNF13 CTNS UROS TCF4 MMAA SLC19A1 TTR CLCN5 CYP27B1 RASGRP1 HCFC1 MMACHC DZIP1L MMAB MMADHC CCND1 SUCLG1 ABCD1 IARS1 TTPA GATA1 MST1 GALNT2 CUBN PKHD1 ZNF699 SLC37A4 GUCY2C GRM7 CASP10 TJP2 SLC10A1 ALDH4A1 LMBRD1 FAS SIM1 KL SPTBN1 PRKCD MMP1 FTCD DNAJC21 VDR HLA-DQA1 RPL11 SLC30A10 MTTP SEMA4D BAAT DMP1 FGF23 CYP3A4 DLAT COL7A1 CBLIF SLC34A3 GPR35 EFL1 FASLG GALT SBDS PRDX1 PTH1R ACSF3 SAR1B SRP54 RPS10 SLC52A1 MMUT BCO1 LRP5 MTHFD1 MTRR OCRL SLC51B SUCLA2 MTR ENPP1 HP_ABNORMALITY_OF_VITAMIN_D_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VITAMIN_D_METABOLISM CYP2R1 FARSB MMP1 CTNS HLA-DQB1 CLCN5 ACOX2 DNAJC21 VDR HLA-DQA1 RPL11 UROS TCF4 MTTP SEMA4D DMP1 FGF23 CYP3A4 COL7A1 SLC34A3 CYP27B1 GPR35 EFL1 DZIP1L GALT IARS1 SBDS PTH1R SRP54 RPS10 GATA1 MST1 GALNT2 PKHD1 LRP5 SLC37A4 OCRL SLC10A1 SLC51B ENPP1 KL HP_LOW_LEVELS_OF_VITAMIN_D http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOW_LEVELS_OF_VITAMIN_D FARSB MMP1 HLA-DQB1 ACOX2 DNAJC21 HLA-DQA1 CTNS RPL11 UROS TCF4 MTTP SEMA4D FGF23 COL7A1 GPR35 EFL1 DZIP1L GALT SBDS PTH1R SRP54 RPS10 GATA1 MST1 GALNT2 PKHD1 SLC37A4 OCRL SLC10A1 SLC51B HP_ABNORMALITY_OF_VITAMIN_E_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VITAMIN_E_METABOLISM CYP7A1 SBDS TTPA SRP54 MST1 DNAJC21 PKHD1 SLC30A10 TCF4 MTTP SEMA4D SLC51B GPR35 EFL1 DZIP1L HP_POLLAKISURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POLLAKISURIA FMR1 FA2H HOGA1 NBN ALDH18A1 BNC2 DYSF FAR1 HP_DYSURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSURIA SPART HOGA1 CARMIL2 LAMB3 WFS1 GPR101 HPRT1 AGXT ALMS1 CISD2 BNC2 IKZF1 HLA-B LAMC2 HMBS LAMA3 AIP APRT HP_ANURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANURIA CFHR1 CFI ACE MYH11 CFB CD46 AGTR1 REN CFH C3 THBD CFHR3 AGT HP_OLIGURIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OLIGURIA SLC25A20 CCR6 CAV1 RYR1 HLA-DRB1 CCN2 DZIP1L PKHD1 IRF5 APRT HP_NEOPLASM_OF_THE_THYMUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_THYMUS PTEN MEN1 CDKN1A AKT1 CDKN1B CDKN2C CDKN2B HP_LIVER_ABSCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIVER_ABSCESS CYBC1 NCF2 IRAK4 NCF1 NCF4 CYBB ABCB4 CYBA PKHD1 CTSC HP_ABNORMAL_BLOOD_PHOSPHATE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_PHOSPHATE_CONCENTRATION CDC73 CYP2R1 HNF4A FAM111A SLC34A1 ENPP1 NRAS SLC2A2 RYR1 GNA11 CLCN5 NDUFAF6 NAB2 STX16 OCRL KCNJ18 FAH GNAS COL4A3 TBCE GCM2 FAM20C CTNS GALNT3 VDR FGF23 DMP1 PRKAR1A CASR SLC34A3 TNFSF11 PGAP2 PTH SNX10 ALPL CLCN7 KRAS GABRA3 MEN1 ABCC6 GATM CYP27B1 EHHADH STAT6 CACNA1S PTH1R AP2S1 PHEX KL ALDOB TCIRG1 GNAS-AS1 CYP3A4 TNFRSF11B SLC9A3R1 PDE4D HRAS INPPL1 HP_ABNORMAL_CALCIUM_PHOSPHATE_REGULATING_HORMONE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CALCIUM_PHOSPHATE_REGULATING_HORMONE_LEVEL NF1 GNAS CDC73 CYP2R1 SDHD MEN1 SDHC PDE4D CYP27B1 CASR STX16 GCM2 CDKN2B VHL CDKN1B CLDN19 DLST FAM20A RNU4ATAC PHEX KL SOST SDHA MAX FH CDKN2C VDR TRPV6 PRKAR1A GNAS-AS1 TMEM127 AIRE CYP3A4 ADORA2A CDKN1A SDHB SLC25A11 RET KIF1B SDHAF2 PTH TBX1 SLC34A3 OCRL MDH2 HP_INFLAMMATORY_ABNORMALITY_OF_THE_EYE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INFLAMMATORY_ABNORMALITY_OF_THE_EYE TNFRSF13B SF3B1 CERS3 HDAC8 CD19 NLRP3 IARS2 NTRK1 UBAC2 UROS ERF HLA-DPA1 ALDH3A2 ERCC8 BAP1 GJB6 TERT ANKRD55 HLA-DRB1 PTPN2 GNAS MEFV CCR1 KLRC4 TNFAIP3 TERC MBTPS2 ZEB1 FGFR3 IL2RA FAS C4A NHP2 ATOH7 ERCC6 TKT STX16 PLEC TP63 NIPAL4 FGFR2 ICOS GJB2 DNASE1L3 GPR35 NLRP1 FOXC2 PLXND1 NCF2 LBR RNF113A TNFRSF13C DDB2 NIPBL TLR4 MLX PLCD1 SCN9A COL17A1 CYBB SREBF1 PAX1 HLA-B IL2RB TCF4 PARN MMP1 GNA11 CD79B DKC1 GATA1 NOP10 ERCC2 ERCC3 SLC39A4 PIGN XPA LRRC8A TNFRSF1A STAT4 PAX6 COL4A6 IL12A-AS1 NOD2 ADAM17 TGM1 IKBKG CYBC1 HLA-DPB1 TINF2 BTK ERCC4 CR2 SEMA4D XPC NCF4 AIRE COL4A5 IKZF1 GSN UROD PSMB4 PIK3R1 NPM1 CD79A PTPN22 ERAP1 POLH AEBP1 RAG2 GTF2H5 ALOXE3 CD247 RAD21 SAMD9 AP1B1 PRTN3 ALOX12B BTD SLC35C1 IL23R CAPN5 RASGRP1 IGLL1 ERCC1 ERCC5 WAS MPLKIP PLG BIRC3 TFRC CYSLTR2 CASP10 HLA-A IGSF3 BTNL2 GNAQ EGFR USB1 RAG1 PSMB9 MSMO1 HLCS CD27 IL12B BRD4 TARS1 ABCA12 KAT6A IL6ST MIF PSMB8 CYBA LACC1 FGF10 EPCAM IGHM ST14 TRAF3IP2 MALT1 CLTCL1 BLNK IL10 TBX4 IL12A WIPF1 VPS33A NCF1 GTF2E2 STX11 RTEL1 FERMT1 LRBA MST1 SMC3 WRAP53 IL6 MAB21L1 SMC1A SLC29A3 STUB1 FOXP1 PRKCD FBN1 RNF125 CST6 COL7A1 MTTP CRLF1 TCF3 CTC1 BLM FASLG PNPLA1 APOE REV3L CTLA4 BCL10 HP_EPISCLERITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPISCLERITIS MBTPS2 DNASE1L3 PSMB8 SLC29A3 NLRP3 HP_ABNORMALITY_OF_THE_SUPRAORBITAL_RIDGES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_SUPRAORBITAL_RIDGES PEX6 TBX1 PPP1R21 KCNJ8 KRAS FGFR2 KIF11 PEX11B KNSTRN POR SOX11 TTC37 GDF1 FREM1 SLC25A24 FLNA PEX1 PIK3CD RAB23 FOS SPOP OPHN1 ERCC4 PEX26 FGFR3 RPS6KA3 PRMT7 IDS CAVIN1 GRIA3 BRAF AGPAT2 GATA5 CITED2 PEX3 NEU1 PSMC3 NSUN2 PEX10 FHL1 PEX12 ZSWIM6 PITX2 UBE2A MAP2K2 NKX2-5 FGFR1 LAS1L FBXO31 TCF12 MASP1 FLT4 SEC23A TRAPPC9 BSCL2 NKX2-6 MYOD1 PIK3R1 ABCC9 MAP3K7 ARX PEX16 PHF8 PEX5 SHANK3 LIG4 GATA6 MAP2K1 PEX2 HBA1 PAK3 RBM10 ZIC1 SUZ12 PTH1R PEX13 SP7 ZFPM2 PHF6 CAV1 ESCO2 EDA PEX14 TWIST1 GJA5 PDGFRB CHD8 TAF1 HBA2 PEX19 JAG1 LZTR1 ANTXR1 GHR HDAC8 PPARG GATA4 RBMX HP_PERIORBITAL_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIORBITAL_EDEMA WT1 PLCE1 NUP133 PSPH COL1A1 GTF2I PRTN3 CDH11 MYD88 MYO1E HLA-DPA1 SLC35C1 GTF2IRD1 NUP37 KNSTRN CLIP2 ABCC9 ACTN4 NPHS1 ZNHIT3 ABHD11 SOX18 NUP93 GPR101 CAMTA1 DNMT3B APOL1 ELN SLC29A3 NUP160 IGSF3 EIF4H CCBE1 SPTBN1 RIN2 LAT2 DAAM2 STX1A CD2AP CRB2 ACTB NPHS2 ANLN SNX14 ACTG1 PSMB9 SUMF1 AIP NUP107 COL5A1 KCTD1 COL4A3 NUP85 BUD23 TRPC6 PIEZO1 KAT6A KPTN METTL27 TBL2 SHANK3 PIK3CD LIMK1 CLDN3 SMCHD1 PAX2 PEX2 PTPRO BAZ1B NUP205 GNPTAB ADAMTS2 MAGI2 FRMD4A GAPVD1 PEX5 TBC1D8B KIF1A TNFRSF1A LTBP4 GTF2IRD2 PTPN22 MED12L DUX4 NCF1 HLA-DPB1 RFC2 FKBP6 CLDN4 DNAJC30 VPS37D GSN PSMB4 ARHGAP24 MLXIPL ANKFY1 INF2 POMP COL5A2 TMEM270 EMP2 ANTXR1 COQ8B CTLA4 BCL7B FOXG1 ARHGDIA FRG1 HP_PALPEBRAL_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALPEBRAL_EDEMA MED12L RIN2 PSPH DUX4 COL1A1 ACTB CDH11 GNPTAB SLC35C1 KNSTRN ADAMTS2 GSN SNX14 FRMD4A SHANK3 ACTG1 ABCC9 AIP ZNHIT3 SOX18 COL5A1 PEX5 KCTD1 CAMTA1 COL5A2 GPR101 KIF1A DNMT3B KAT6A KPTN ANTXR1 SLC29A3 FOXG1 PIK3CD SMCHD1 PEX2 FRG1 SPTBN1 HP_FEMORAL_HERNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FEMORAL_HERNIA ADAMTSL2 ATP7A PTDSS1 DIS3L2 FZD2 COL1A2 COL1A1 TBX1 ADAMTS2 SLC2A10 SMAD4 DVL1 FANCB WNT5A SLC26A2 DVL3 EHMT1 TRIP11 HP_ABNORMAL_LOCALIZATION_OF_KIDNEY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LOCALIZATION_OF_KIDNEY RPS28 HMGA2 RPS15A GTF2I NRAS COLEC10 STRA6 MAFB ADA2 CCNQ GTF2IRD1 HNF1B RAI1 RPL18 KMT2D DEAF1 RAB3GAP1 MYCN SPINK5 DDX59 ESCO2 SC5D FLII HOXD13 RAB3GAP2 DDB1 RAF1 RPL35 MCTP2 RPL35A RTTN FANCA KAT5 ZIC3 GLI3 GATA1 FANCC SLX4 GREB1L ZEB2 RBM8A TBC1D20 TSR2 UBE2A LEMD3 DPF2 METTL27 JAM3 TBL2 SEMA3E RPS27 RFWD3 ARID1B MAP3K7 ERCC4 SSR4 CHD7 SMARCB1 CWC27 XRCC2 SMS BRAF SON RPS20 PORCN RPL5 SALL4 SPECC1L HNRNPU RARB ADAMTS3 CFAP418 RBM10 DSE RPS29 RPS10 RPS26 AFF3 NCF1 RFC2 RPL26 SMARCC2 PUF60 APC DNAJC30 UBE2T CHST14 SALL1 RAD51 SMARCD1 DACT1 HRAS NRIP1 FGFR1 CHUK CD96 BCL7B LRP4 RPS24 DDX6 CHN1 ARID1A MAD2L2 RECQL4 USP9X PIK3R2 SOX4 BICRA ARID2 RPL27 FANCI SMOC1 COLEC11 BRCA2 CLIP2 THOC6 FAT4 POR DYRK1A FANCE ABHD11 PIK3CD TCTN3 FANCF DSTYK KDM6A ELN DYNC2LI1 DNA2 SMARCE1 AKT3 WAC TBX22 NIPBL EIF4H CCBE1 RAB18 LAT2 STX1A PBX1 RPL11 AFF4 FUZ RPL15 FANCD2 SNRPB RPS19 SMARCA4 MLXIPL FANCL RPS7 BUD23 VANGL1 RBBP8 FGFR2 LIMK1 IQSEC2 CLDN3 PTPN11 KRAS BAZ1B FANCB WT1 PAX2 XRCC4 RIPK4 RPL31 MNX1 DHCR7 GTF2IRD2 STAG1 EXTL3 CCND2 DKC1 FKBP6 CAPN15 CLDN4 VPS37D SRY KNSTRN FANCG BRCA1 TMEM270 RPS17 BRIP1 FANCM PALB2 SOX11 RAD51C HP_COGNITIVE_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COGNITIVE_IMPAIRMENT PSEN1 ERCC3 GBA PRDM8 TOMM40 CACNA1A GRN MT-ND6 ALG13 ATXN3 MT-CO2 TMEM106B METTL23 MT-TV HEXA MT-TP DNMT1 MBTPS2 ERCC8 CDK19 SLC13A5 FGF14 PIK3CA FAS NKX6-2 VCP MT-TS2 DNAJC6 PEX3 GABRG2 APOE PEX12 TGM1 ATXN7 POLG2 TREX1 RBM28 CNKSR2 MSH2 SPG11 GABRB2 PDGFRB NTRK2 TWNK PINK1 HNRNPA2B1 SDHC TRAK1 ABCA7 TBP MAPT NPHP1 DOLK TREM2 SLC1A2 SEMA4A ALDH18A1 SHH KRT83 ADA2 CUBN GPC4 MTOR CABP4 GNAS ATP1A3 CHMP2B MPO GLB1 FA2H ERCC4 MYO1H APP GCH1 SLC2A1 PHOX2B PEX19 RRM2B ERAP1 MT-TW MT-TC DSTYK ATP6V1A TBK1 PLA2G6 LMNB1 UBA5 HNF4A DNM1 PLP1 SYN2 TUBB2B TK2 XPR1 IL23R PPP2R2B AIFM1 ECM1 POMT1 OCRL FBXO7 CYP27A1 DMPK HSD17B4 PRNP ATXN8OS MT-TF SRCAP YY1 SCN1A CYLD B3GALNT2 PANK2 GALC HLA-DQB1 NEFL TIA1 GRIN2A FTL SERPINI1 CYFIP2 CSTB AASS FGFR1 CHI3L1 DNM1L WDR45 SYNJ1 AARS1 SCN3A SDHD EPM2A ATXN10 DEPDC5 OPA1 CISD2 PSAP NHLRC1 GLI2 MT-TS1 ABCA5 SLC18A2 LRRK2 UCHL1 EEF1A2 SNCA BDNF NRAS TLR3 IL10 STXBP1 LYST SLC30A9 TIMMDC1 DZIP1L WWOX LAMA2 PLEKHG4 CAMTA1 SMC1A C9orf72 FKTN NUP133 DISP1 SLC25A4 SDHB PEX16 GJC2 HLA-DRB1 ATP6V1E1 DRD3 PNPLA6 RTN4R CLN8 GRIN2D ATP13A2 PPP3CA GBE1 SDHA CENPJ SPAST SCN9A GBA2 PRKAR1A COX6B1 TSC1 SLC20A2 NFIA TUBB4A CFHR1 GJB6 FUS MYD88 HIBCH MLH1 UBAC2 RNASEH1 MEOX1 PNKP PTEN NAGS SPTBN2 RBM12 MT-ATP6 MT-TE KMT2A MEN1 ATRIP SIGMAR1 ALOXE3 CHRNG KCNT1 PEX26 ADH1C HEXB C4A IDS AKT1 IBA57 STX1B STAT4 ATP1A2 ADGRV1 ZIC2 SMC3 BAP1 EIF4G1 DSG4 ERF KMT2B COMT MARS2 TARDBP PRKCG QDPR GABRD SNCB MYORG GMPPB NDUFA6 GM2A LAMA1 CTSF SIX3 TLR4 CYP2U1 MT-TH NOTCH3 AUH CELF2 CHRNA2 TTC19 GLA KCTD7 HCN1 ROGDI TRAIP PEX5 C19orf12 PAH MT-CO1 POLG RPS20 ERCC2 XPA SLC37A4 MAG GDNF SIM1 VAMP1 TRAF7 IKBKG DNAJC13 ARV1 GABRA1 TUBA4A XPC ATXN2 LAGE3 SLC7A7 FGF13 KCNA2 GALT DDB2 ROBO3 P2RY11 FOXG1 LAMP2 NOTCH2NLC NPRL2 USF3 MFSD8 UBQLN2 SQSTM1 ITGA7 AARS2 PDGFB STUB1 MT-RNR1 MT-TL1 FMR1 KCNB1 SNCAIP DGUOK RMRP ABCD1 NF2 DCTN1 SCN8A ATG5 MTFMT MMACHC PDE11A CLMP DARS2 KRT86 ALOX12B MSH6 GDF5 MATR3 CTDP1 GABRA5 EIF2B1 CREBBP APOL4 HLA-B UGT1A1 CLN6 PRKN LTBP4 COQ2 CACNA1B PRKRA SCO2 MTRFR ARSA EPCAM FRRS1L PDCD10 POMT2 SPP1 MT-ND1 WDR73 DHDDS SLC25A15 MT-CO3 TINF2 IL12A APOL2 ITM2B CLCF1 TP53 PMS1 ATXN1 VPS13C YWHAG GDF3 SYNGAP1 FGF12 ALS2 CACNA1G FGF8 NAGA MOG TSC2 GNE LZTFL1 SOST CTSD DLAT REEP2 IDUA NUS1 KRIT1 NDUFB8 JPH3 SURF1 FGFR3 ACSF3 SZT2 MCOLN1 SCN1B EIF2B3 KARS1 ABCA12 SPG7 PLAU PEX6 CNTNAP2 GALK1 CFH RAB39B ATP7B L1CAM KIF5A TTR RBBP8 FBN1 PKHD1 CCR1 FAR1 DCC HMBS SPTBN1 CERS1 NPRL3 TGFBR2 CTNS ITPR1 SGPL1 PMS2 PEX10 SUMF1 BBS12 MLH3 CENPE DCAF17 CLTC SDCCAG8 BRAF EP300 EDN3 GIGYF2 MAOA KLLN CLN5 BBS10 NF1 GABRA2 WDR4 RNF216 PORCN NPC1 AP5Z1 ALMS1 ZFYVE26 CCM2 GLUD2 IRF6 EPRS1 SCARB2 COL3A1 GSN OSGEP FLNA NPC2 TYMP MECP2 VPS13A ACTL6B TP53RK CHD2 WFS1 TNFSF4 MTHFR SCN2A UBTF ERCC5 OPA3 CEP120 BSCL2 SDHAF1 TMEM240 CRH TTPA CFAP43 MT-TQ SEC61A1 CSF1R HEPACAM RIN2 NUP107 PRKAR1B TRPM7 MT-TK IRAK1 JAM2 SULT2B1 PARS2 MYH3 STIL GTPBP3 TSFM PLK4 PTPN22 CFHR3 CST3 FKRP SMO DCX PPT1 HNRNPA1 ARL6IP6 GCDH KCND3 MICOS13 VPS37A SLC7A6OS PLAA TBCK XRCC4 SLC25A13 PEX2 DNAJC5 LIPN PSEN2 SLC2A3 FAN1 VPS35 HCRT SLC1A3 CTSK PEX14 PMPCA CCDC78 CYP4F22 POMK FGD1 STARD7 PRDX1 BBS5 SPG21 ATN1 CTC1 AFG3L2 CHRNB2 CUX2 CHRNA4 CCNF BMPR1A HTT SDR9C7 NOS3 ASAH1 PEX1 CHCHD10 TYROBP KRAS MPDU1 MTO1 UBAP1 MEFV ZNF365 KLRC4 HGSNAT PTS POMGNT1 CTSH GRID2 DMD SNORD118 PODXL NAGLU POLR3K TPRKB EIF2B5 NECAP1 HTRA1 MAPK10 DNAJC3 DAOA LARS2 ATM KCNC1 PCNT MT-ND5 PRICKLE1 MAGEL2 ATR ADAMTSL4 COL18A1 ERCC6 HTRA2 IL12A-AS1 NDUFAF3 TTC8 EIF2B2 APTX BBIP1 SUFU PARK7 COL4A1 ADD3 MT-ND4 SLC44A1 LARGE1 AP3B2 GNPTAB HTR2A PEX11B COASY TTC37 GDF6 RAB27A TIMM8A PDE10A ACTB SMARCB1 SPR NIPAL4 CLN3 HFE CRLF1 SLC5A7 NBN SORL1 GJB2 CEP152 SMARCE1 CHRM3 IFT140 CP UBA1 COA3 KRT81 GABRB3 TERT NR4A2 LRPPRC HSD17B10 SEC23B SPART CYP7B1 NDUFS2 PEX13 EIF2B4 PCDH19 MT-CYB GDAP2 DALRD3 NDP ATP6V0A2 MFN2 HP_NEOPLASM_OF_THE_HEART http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_HEART PTCH2 TSC1 LMOD1 TSC2 ACTG2 PRKAR1A SUFU MYH11 IFNG PTCH1 MYLK MYH8 SOX6 HP_ARTERIAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ARTERIAL_STENOSIS BRCC3 PPARG TGFBR2 ENPP1 ABCA1 GTF2I NF1 GTF2IRD1 LMNA CLIP2 YY1AP1 FBN1 KCNJ5 ABCG8 FOXE3 MYH11 ABHD11 AGXT VHL BEST1 MPL MAX APOB ELN SLC2A10 ATP7A ERCC8 APOA2 LIPC ADA2 EIF4H IDS TGFB2 PCSK9 LAT2 GHR TGFB3 STX1A SDHB ABCC6 JAG1 ACTA2 ABCG5 LDLRAP1 EPHX2 ESR1 MLXIPL IL12B SERPIND1 TGFBR1 APOE BUD23 CEP19 METTL27 TBL2 STAT1 MLX HEY2 LIMK1 CLDN3 NOTCH3 MYLK CYP7A1 BAZ1B ARL6IP6 SMAD2 HLA-B FIG4 PRKG1 XYLT2 ERCC6 JAK2 THPO TMEM127 LOX PNPLA2 F12 LDLR SMPD1 RET MAT2A VAC14 PPP1R17 GTF2IRD2 XYLT1 SMAD3 NCF1 POU3F4 RFC2 FKBP6 SDHD MFAP5 COL3A1 CLDN4 DNAJC30 ZNF687 VPS37D PCNT AEBP1 TMEM270 BCL7B CYP27A1 KIF1B SMAD4 HP_EXSTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXSTROPHY KRAS PAH CDH11 UPB1 TP63 ISL1 HP_NEOPLASM_OF_THE_TRACHEOBRONCHIAL_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_TRACHEOBRONCHIAL_SYSTEM CASP8 DICER1 MAP3K8 KEAP1 PPP2R1B TERT SLC22A18 PIK3CA SFTPA2 PRKN CYP2A6 COL4A5 FASLG BRAF MUC5B IRF1 COL4A6 KRAS EGFR ERBB2 ERCC6 SFTPC HP_ASYMMETRIC_GROWTH http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ASYMMETRIC_GROWTH MIR140 ARL6IP6 IGF2 SETD5 AKT1 NRAS TUBB PTEN RERE PRKCZ H19 HSPG2 PLAG1 USP9X COL2A1 HNF1B KCNQ1 SPEN KRAS PORCN EXT1 PIK3CA EBP CASZ1 PRDM16 MMP23B EFNB1 AKT2 ZNF699 HRAS ACTB SATB2 KCNQ1OT1 TONSL LUZP1 MNX1 HMGA2 IKBKG KCNAB2 PTHLH RNF125 DMP1 CDKN1C UBE4B SALL1 BPTF HOXD13 AGGF1 GNAQ MAPRE2 TRPV4 RASA1 FN1 KAT6A PSMD12 MAPK1 GABRD PDPN DACT1 SKI ENPP1 EXT2 HP_HEMIATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HEMIATROPHY MIR140 EBP EFNB1 ZNF699 PSMD12 BPTF HP_LOWER_LIMB_ASYMMETRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LOWER_LIMB_ASYMMETRY PTEN SETD5 MNX1 AKT1 KCNAB2 IGF2 SPEN TUBB DMP1 RERE PRKCZ H19 COL2A1 HSPG2 USP9X UBE4B SALL1 PORCN AGGF1 EXT1 GNAQ CASZ1 PRDM16 MAPRE2 TRPV4 RASA1 MMP23B FN1 KAT6A KRAS MAPK1 ACTB SATB2 GABRD PDPN DACT1 TONSL SKI LUZP1 PIK3CA ENPP1 EXT2 HP_UPPER_LIMB_ASYMMETRY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_LIMB_ASYMMETRY PTEN AGGF1 MIR140 AKT1 MAPRE2 IGF2 PTHLH TUBB H19 ACTB PORCN HOXD13 HP_SPINAL_CORD_LESION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPINAL_CORD_LESION CCNQ TENT5A KDELR2 MBTPS2 RAI1 HMGA2 TBX6 NRAS CREBBP NOTCH3 WASHC5 ABCA1 GLRX5 UBAP1 KRIT1 DKK1 RTN2 FBLN1 FUZ EXT1 DDR2 RUNX2 CCM2 NFIA CTNNB1 PDCD10 SETD2 FOXF1 SLC33A1 KDM1A ACY1 NOTCH2 EP300 SH2B1 LEMD3 EXT2 HP_NEOPLASM_OF_THE_ENDOCRINE_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_ENDOCRINE_SYSTEM GCM2 SDHD KEAP1 BMPR1A NF1 MLH1 MAFA VHL CLCN2 PTEN LMNA FOXI1 CDKN2B KRAS SDHC ERBB2 MEN1 GPR101 TP53 APC RET KCNQ1OT1 TG CDH23 FAS GDNF CASR AKT1 PIK3CA TGFBR2 BAP1 PMS2 TMEM127 AIP SDHB MLH3 DNAJB11 DPF2 ECE1 MSH2 GANAB SDHAF2 BRAF KLLN SMARCB1 PDGFB GREM1 USP8 SEMA3C CDC73 SLC26A4 CYP11B1 CHEK2 SEMA4A ATRX TSC1 RPS20 TSC2 DLST TRAF7 MAX MINPP1 PRKAR1A SMARCC2 IGF2 CDKN1B SLC25A11 DNMT3A NRAS SUFU CDKN2A SMARCD1 MDM2 USF3 SLC12A3 MSH3 SEC23B ARID1A MDH2 SOX4 ARID2 CLCNKB DICER1 EDNRB WRN RASGRP1 ERBB3 PKD1 DMPK SCN4A HABP2 YY1 KCNJ10 DAXX ARID1B CASP10 FLCN SMARCE1 FOXE1 MSH6 SEMA3D IDH1 CTNNB1 JAG1 CDKN1C NRTN NF2 SMARCA4 KIF1B ABCD1 EPCAM CACNA1S SMO EDN3 TERT NKX2-1 PKD2 BICC1 KCNQ1 PMS1 SRGAP1 CYP11B2 CCND1 FAN1 ALG9 HRAS PRKCD EPAS1 SDHA GNAS FH ATP7A SREBF1 CDKN2C GCGR KCNE3 CDKN1A FASLG IDH2 SOX11 HP_ABNORMALLY_OSSIFIED_VERTEBRAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALLY_OSSIFIED_VERTEBRAE DYNC2I1 LBR COL2A1 FLNB BMPER NKX3-2 VPS35L IFT80 TRAPPC2 COL11A2 TRIP11 HSPG2 RMRP DYNC2I2 WDR35 WNT3 RSPO2 INPPL1 SOX9 RNU4ATAC DYNC2H1 ALPL SLC26A2 LFNG HP_CARCINOID_TUMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARCINOID_TUMOR APC CDKN1B TSC2 CDKN2C DAXX MEN1 CDKN1A ATRX TSC1 SDHD LMNA CDKN2B HP_CARDIAC_DIVERTICULUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CARDIAC_DIVERTICULUM KRAS RPS20 PIK3CA TGFBR2 EPCAM BMPR1A MSH2 MLH1 PMS2 FAN1 MSH6 SEMA4A PMS1 MLH3 HP_BILIARY_TRACT_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BILIARY_TRACT_NEOPLASM HFE RNF43 PTPN3 MST1 PKHD1 ARSA TCF4 SEMA4D STK11 PSAP GPR35 DZIP1L HP_NEOPLASM_OF_THE_GALLBLADDER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_GALLBLADDER PSAP GPR35 MST1 ARSA TCF4 SEMA4D HP_AMAUROSIS_FUGAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AMAUROSIS_FUGAX CACNA1A SCN1A MARCHF6 TP53 PIK3CA TGFBR2 HLA-B YEATS2 BMPR1A ADRA2B P4HA2 MLH1 PMS2 SAMD12 PTPN22 SEMA4A PMS1 MLH3 HLA-DRB1 IL12B SH2B3 KRAS RPS20 MPL EPCAM TET2 MSH2 CTNND2 CALR ATP1A2 FAN1 PRRT2 MLX CNTN2 JAK2 MSH6 ADA2 HP_LIPOATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIPOATROPHY PLIN1 PPARG LMNA PPCS DMD MYH7 RNASEH2C CAP2 POLR3A LMNB2 TNNI3 WRN HAND2 MYH6 DOLK ABCC9 PIK3R1 SDHA PSEN1 MYPN DES PLN RNASEH2B CLMP RNASEH2A SLC25A24 TNNT2 PSEN2 TNNC1 TREX1 CSRP3 ACTB TPM1 TMPO GATAD1 LAMA4 TAFAZZIN TCAP ACTC1 FKTN FBN1 BANF1 FHL2 CRYAB FUCA1 ACTN2 TXNRD2 PIK3CA SCN5A RAF1 FLNA IFIH1 MYBPC3 SAMHD1 TAF1A NEXN VCL ANKRD1 RBM28 MTX2 RBM20 LDB3 TTN ADAR COL3A1 PDGFRB DSG2 PRDM16 SGCD BAG3 DSP HP_MUCOSAL_TELANGIECTASIAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MUCOSAL_TELANGIECTASIAE PIK3CA ACVRL1 GLA SDHC ENG SDHB IRF5 ERCC4 CTSA ERCC2 GNAQ ATM XPC PTEN HLA-DRB1 GDF2 ERCC5 SEC23B DDB2 KIAA0319L CCR6 NAGA PEX6 CAV1 ERCC3 MASP1 XPA USF3 SDHD LBR CCN2 AKT1 PCNA RNF168 SETX KLLN SMAD4 HP_BARRETT_ESOPHAGUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BARRETT_ESOPHAGUS MYH11 CTHRC1 ASCC1 RAD21 MSR1 FH HP_ENDOCARDITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENDOCARDITIS CRELD1 NR2F2 ERAP1 GATA6 FAS PRKAR1A MEFV UBAC2 CCR1 IL10 GATA4 GBA KLRC4 HLA-B IL23R STAT4 TLR4 IL12A IL12A-AS1 C4A HP_TELANGIECTASIA_OF_THE_SKIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TELANGIECTASIA_OF_THE_SKIN NF1 GLA ARL6IP6 ENPP1 ENG GNPTAB IRF5 HLA-DRB1 WNT10A TCF4 ATM CYLD LMNA WRN POLE PCNA SLC37A4 SLC2A10 CCN2 ATRX ERCC5 PARN NAGA TERT KIAA0319L SOX18 PORCN PIK3CA RTEL1 CCR6 DKC1 CAV1 ERCC3 NOP10 MST1 ELMO2 ABCC6 DAXX XPA ARX WRAP53 LBR SLC29A3 TERC VPS53 USB1 ANTXR2 SDHD SMAD4 IL7 ACVRL1 NHP2 IKBKG TINF2 ERCC4 XRCC4 ERCC2 SEMA4D XPC CTC1 COL3A1 LIG4 GPR35 USP8 CIB1 NPM1 GDF2 DDB2 TMC8 FERMT1 CDH23 BLM TMC6 HP_ABNORMAL_PREPUTIUM_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PREPUTIUM_MORPHOLOGY FANCF CENPT XRCC2 FANCB DKC1 FANCC SLX4 FANCA UBE2T BRCA2 SETD2 FANCG APC2 FANCE FANCL MAMLD1 RAD51 FERMT1 AR BRCA1 NSD1 CTCF BRIP1 FANCD2 ERMARD RFWD3 PQBP1 FANCM ERCC4 PALB2 FANCI MAD2L2 RAD51C HP_UROGENITAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UROGENITAL_FISTULA SALL4 MKKS LONP1 POLR1D DLL3 LFNG SALL1 CCNQ RIPPLY2 KIF7 KMT2D FGF20 POR WDR35 DDB1 UBR1 RET PIGN MNX1 DYNC2I1 MESP2 KDM6A SPINT2 POLR1C TCOF1 CAPN15 IFT80 FREM1 SLC35A2 HES7 POLR1B DYNC2I2 IL10RB ITGA8 DACT1 SYK TCTN3 GREB1L CDK8 OCRL TGFB1 RECQL4 DYNC2H1 JAK3 PKP1 HP_RECTAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECTAL_FISTULA SPINT2 SALL4 POLR1C MKKS LONP1 TCOF1 POLR1D SALL1 FREM1 CCNQ KIF7 POLR1B DDB1 UBR1 IL10RB DACT1 PIGN TCTN3 MNX1 CDK8 RECQL4 JAK3 HP_PERITONEAL_ABSCESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERITONEAL_ABSCESS KRAS PALLD RABL3 TP53 BRCA1 TTC7A CDKN2A PALB2 BRCA2 SMAD4 HP_CALCIFICATION_OF_CARTILAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CALCIFICATION_OF_CARTILAGE HGD PEX5 MGP ABCC6 DDR2 ENPP1 ZBTB20 TNFRSF11B PEX2 ANKH SLC26A2 HP_ABSENT_NARES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_NARES SHH STIL ZIC2 SIX3 GLI2 FGF8 OTX2 DISP1 PRRX1 FGFR1 SMCHD1 HP_PULMONARY_EDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PULMONARY_EDEMA ABCA3 MT-CYB KIF20A MYPN MYBPC3 TNNI3 NKX2-6 PLXND1 SFTPC HELLPAR FLNC FSHR PRKAG2 EPHB4 SFTPB MOGS CFI TNNT2 CFH CD46 EIF2AK4 HP_ECLAMPSIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ECLAMPSIA HELLPAR PPARG NOS3 LMNA STOX1 CORIN CFI CFH CD46 HP_TOXEMIA_OF_PREGNANCY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TOXEMIA_OF_PREGNANCY PPARG ATP8B1 LMNA FDXR F5 HBA1 HELLPAR CYP11B1 ADGRG6 CFI NOS3 HBA2 CYP11B2 NR1H4 ABCB11 DHPS NR3C2 SLC25A20 EP300 STOX1 LBR CORIN ABCB4 CFH CD46 SPTBN1 HP_NEOPLASM_OF_THE_LARYNX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_LARYNX CDKN2A MLH1 MSH6 MSH2 NLRP1 MDM2 TP53 CHEK2 RSPO1 CAT HP_NEOPLASM_OF_THE_RESPIRATORY_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_RESPIRATORY_SYSTEM CASP8 MLH1 MAP3K8 TSC1 AKT1 DICER1 KEAP1 TSC2 TP53 MSH2 SLCO2A1 MST1R LMNA BRAF WRN IRF1 CHEK2 BAP1 NAB2 CAT PERP STAT6 PTEN NOTCH3 TERT WT1 PIK3CA RELA AAGAB NSD1 REST IFNG COL4A6 H19 RSPO1 COL14A1 NDUFAF6 ZFTA ERBB2 RB1 TRIM28 HPGD TRIP13 SFTPA2 EWSR1 PRKN COL4A5 FASLG STK11 DIS3L2 NLRP1 PDGFRB SETD2 APC2 EGFR SFTPC CDKN2A MSH6 PPP2R1B POU6F2 SLC22A18 MBTPS2 MDM2 CYP2A6 GPC3 MUC5B BRCA2 KRAS ERCC6 TRPV3 HP_DYSMENORRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSMENORRHEA PPARG LMNA PHKA2 HMGA2 CYB5A PHKG2 GPR101 ANTXR1 CDKN1C PLAG1 CYP17A1 IGF2 AIP HP_METRORRHAGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METRORRHAGIA RARA CDH23 TBL1XR1 ZBTB16 BCOR STAT5B NABP1 NUMA1 FLI1 NPM1 F5 STAT3 PML IRF2BP2 USP8 FIP1L1 PRKAR1A HP_MULTIPLE_GLOMERULAR_CYSTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MULTIPLE_GLOMERULAR_CYSTS MT-TV NPHP3 MT-ND3 MT-ND2 MT-ND4 HNF1B MT-ATP6 MT-TW MT-TL1 MT-ND5 MT-ND1 MT-ND6 MT-TK MYOCD HP_ODONTOGENIC_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ODONTOGENIC_NEOPLASM SUFU PTCH2 APC OFD1 OCRL FGF3 PTCH1 HSPG2 HP_MYOSITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MYOSITIS STAT4 STING1 FAS PSTPIP1 RNASEH2C UBAC2 IL10 HLA-B IL23R IL12A IRAK1 CAPN3 IFIH1 PSMB4 PSMB9 SAMHD1 LAMA2 ERAP1 PSMG2 MEFV RNASEH2B RNASEH2A CCR1 KLRC4 ADAR FOXP3 TNFRSF1A TREX1 TLR4 SPP1 IL12A-AS1 C4A HNRNPA2B1 HP_OVARIAN_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OVARIAN_NEOPLASM PTCH2 GATA4 RAD51D AKT1 RNF43 PIK3CA RAD51C KEAP1 PALB2 CDKN2A MLH1 CTNNB1 WNT10A BRCA2 TP53 SUFU FLI1 LMNA WRN CHEK2 PTEN FGFR2 PMS1 PTCH1 NBN KRAS DMPK BARD1 SOX9 WT1 DICER1 RELA MAP3K1 SMAD4 NR5A1 FAN1 PALLD RABL3 ZFPM2 BRCA1 WWOX MSH6 ZFTA RAD50 RAD51 TGFBR2 IDH1 EWSR1 PMS2 NR0B1 PRKN DHX37 MLH3 MSH3 EPCAM MSH2 IDH2 MDM2 SRY VAMP7 DMRT3 MRE11 BRIP1 STAG3 CDH1 OPCML ERBB2 HP_LEYDIG_CELL_NEOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LEYDIG_CELL_NEOPLASIA NNT MC2R MRAP STAR TXNRD2 HP_GERMINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GERMINOMA FGFR2 PIK3CA KEAP1 AKT1 DICER1 CTNNB1 MAP3K1 STS PRKN IGF2 CDH1 OPCML ERBB2 HP_DYSGERMINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSGERMINOMA FGFR2 PIK3CA PRKN AKT1 CDH1 CTNNB1 MAP3K1 OPCML ERBB2 HP_ENLARGED_THORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_THORAX DYM A2ML1 PTPN11 TRPV4 PRKACB NRAS RIT1 BCOR TRAPPC2 VPS33A KRAS MRAS KDELR2 GPKOW RAF1 PCGF2 WNT4 GATA4 FUCA1 ZMPSTE24 LZTR1 NAA10 ACP5 OBSL1 EIF2AK3 ACAN INTU P3H1 LBR BRAF RAB33B COL2A1 HRAS BMPER MYH3 CBL POP1 MAP2K1 CCDC8 TRIP11 GUSB RRAS PRKACA LMNA RASA2 CHST3 SOS2 RRAS2 SRCAP CUL7 TNFRSF11B XYLT2 KAT6A FBN1 MAPK1 SOS1 LRP5 CILK1 WNT7A HP_CHRONIC_HEPATIC_FAILURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_HEPATIC_FAILURE HFE CC2D2A HADHB MST1 ALDOB RPGRIP1L TCF4 SEMA4D AKR1D1 GPR35 TMEM67 SP110 HADHA INPP5E HP_DISPLACEMENT_OF_THE_URETHRAL_MEATUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DISPLACEMENT_OF_THE_URETHRAL_MEATUS WNT4 ATR HOXA13 PEX6 HDAC8 BUB1B COLEC10 LFNG ADA2 HNF1B TERT MAMLD1 HOXD13 MMP23B RAF1 RERE MCTP2 OBSL1 NR5A1 C2CD3 SMAD4 MED25 SPTBN1 KAT5 NHP2 GATA1 SPEN PEX3 MAP2K1 TP63 ZEB2 PEX10 CDKN1C CHRNA3 SIN3A PEX12 KIAA0753 FREM2 EFNB1 COX7B LMOD3 POLE B9D2 GPC4 RPS27 DMRT3 RFWD3 GATA4 EP300 ERCC4 KRAS NKX2-1 TMEM70 OTUD5 GRIP1 PIGN FIG4 TUBB CTBP1 CARS1 PRKCZ PEX16 PLAG1 GLI3 SMS BRAF RPS20 PARN SUCLG1 FAT4 SSR4 ARCN1 DKC1 NDUFA8 PAX6 VAC14 ZNF699 MAP3K1 GPC3 ATPAF2 CDT1 MED12 PQBP1 FGFRL1 WWOX RPS29 CPLX1 MED12L MNX1 RPS10 AR HUWE1 KIAA0586 TINF2 FDFT1 ATRX RPL26 HCCS SMARCC2 PUF60 COL3A1 SLC25A10 GMNN FLNA MAB21L2 KIF7 SALL1 PEX19 SRCAP SETBP1 DNAJC19 DACT1 UBE2A PTPN11 RPS24 EVC2 RAD21 KLHL41 USP9X SEC24C TBX1 BICRA ARID2 SPECC1L SOX2 PDE4D NEB CYP11A1 RPL27 COMT MAPRE2 DVL1 JMJD1C DCHS1 BRCA2 COG1 POR DYRK1A FBXL4 CDC45 ORC4 UBR1 SRY ARID1B NOTCH2 RSPO1 ZFPM2 NIPBL KMT2D GLI1 CUL7 KIFBP MKKS HMGA2 NSUN2 SMCHD1 FANCA CDH11 TMEM94 AFF4 RPL15 DHCR7 SETD2 UBE4B BRD4 CDCA7 CCDC22 UBA1 KANSL1 HIRA EVC PIEZO2 PRKAR1A CREBBP PTDSS1 ARL6IP6 SETD5 FANCB MYMK RPL10 SYNGAP1 HSPG2 SOX9 ZMPSTE24 RPL31 KDM5B PEX2 MECP2 NAA10 SIAH1 ERMARD TONSL ADAT3 CYP17A1 FANCF KDM6A PEX14 FGF10 CHRNG ARVCF LETM1 ISL1 CTC1 NR0B1 B3GLCT KLHL40 IGF2 RREB1 FZD2 LMNA WASHC5 BRCA1 RPS17 PDPN SOX11 CILK1 RAD51C NDUFS4 NSD2 RPS28 PSPH ZMIZ1 RPS15A BCOR WT1 POLR3A RIPPLY2 RPL18 PEX1 DYNC2LI1 ESCO2 RPL35 PEX26 TERC FOXF1 RPL35A RTTN KDM1A MESP2 LSS SLX4 ABL1 NELFA NDUFB11 WNT5A RAC1 MID1 BMP4 TSR2 PITX2 APC2 DPF2 ARX GATAD2B VAMP7 PSMD12 SMARCB1 KARS1 CDC42 XRCC2 CYB5A PPP1R12A DLL3 TMEM63A CDC6 PEX5 EPG5 RPL5 PCNT NOP10 FGFR1 HSD3B2 TFAP2A SRD5A2 TBX22 FGFR2 LUZP1 SMARCA2 CYP21A2 TTC8 WDR35 RPS26 FANCC ORC1 HBA2 UBE2T NPM1 RAD51 SMARCD1 OGT ALG12 ORC6 PIGG ARID1A MAD2L2 SOX4 STAR PEX11B COLEC11 TTC37 FOXC1 FANCE MTM1 SCUBE3 EHMT1 CLMP NSD1 SMARCE1 BDNF FANCI KCNAB2 CCDC8 RLIM SAMD9 RPS19 HES7 SMARCA4 FANCL RPS7 ACTA1 RBBP8 SKI HYLS1 SIX6 FRAS1 RPL11 MTOR DVL3 UFD1 LIG4 KDM3B RTEL1 CASZ1 PRDM16 SMC3 HBA1 WRAP53 PEX13 CSPP1 USB1 TAPT1 SMC1A FGFR3 GP1BB ATP6AP2 THOC6 DHX37 FANCG PNPLA6 BRIP1 FANCD2 SMG8 GABRD FANCM PALB2 WNT7A CUL4B HP_NEOPLASM_OF_THE_ADRENAL_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_ADRENAL_GLAND SDHD APC SDHC TP53 CLCN2 CYP11B1 KCNQ1 CHEK2 CDKN2B VHL MEN1 SCN4A CDKN1B DLST CYP11B2 YY1 KCNQ1OT1 SDHB RET EPAS1 SDHA MAX FH CDKN2C PRKAR1A IDH1 CDKN1C TMEM127 KCNE3 CDKN1A IGF2 DNMT3A SLC25A11 PTEN CDKN2A KIF1B SDHAF2 IDH2 MDM2 CACNA1S NF1 MDH2 HP_ESOPHAGITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESOPHAGITIS MYH11 ATP7A SLC6A5 TRAPPC11 PSPH TCF4 RPL11 SMAD3 GLRA1 GLRB MEN1 CDKN1B GPHN IARS1 ADAMTSL2 FERMT1 CARMIL2 PHGDH TGFBR1 CARD8 STXBP1 ADAMTS2 SLC2A10 ATAD1 TGFB2 TGFB1 TGFBR2 PGM3 TGFB3 LMX1B HP_NEUROENDOCRINE_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEUROENDOCRINE_NEOPLASM SDHD NF1 APC SDHC DLST SDHB MAFA VHL ATRX TSC1 TMEM127 CDKN2B MEN1 CDKN1B TSC2 RET CCND1 YY1 DAXX MAX EPAS1 SDHA FH CDKN2C PRKAR1A GCGR CDKN1A SLC25A11 DNMT3A KIF1B SDHAF2 LMNA MDH2 HP_ERECTILE_DYSFUNCTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ERECTILE_DYSFUNCTION GNRH1 FGFR1 GUCY1A1 ABCD1 PDGFB CHD7 HBB DUSP6 TACR3 CCDC141 CACNA1G TERT HS6ST1 NDNF GALC MEN1 SEMA3A FMR1 BAP1 FGF17 TTR WDR11 CDKN2B DMPK KISS1 CDH23 CDKN1B NDP GPR101 SMARCB1 ANOS1 AR IL17RD GNRHR HAMP DCC HEXB PROKR2 PROK2 SPRY4 HFE AKT1 TRAF7 SACS COQ2 FLRT3 CDKN2C BMP2 SLC40A1 CDKN1A AIP HJV FEZF1 PIK3CA FGF8 NF2 SMARCE1 KISS1R SUFU LMNB1 TFR2 HESX1 ATXN8OS TAC3 SOX10 PIGA NSMF SMO HP_NEOPLASM_OF_THE_ADRENAL_CORTEX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_ADRENAL_CORTEX APC TP53 CDKN2C PRKAR1A IDH1 CDKN1C MEN1 CLCN2 KCNE3 CDKN1A IGF2 CYP11B1 KCNQ1 CHEK2 CDKN1B PTEN CDKN2B CDKN2A SCN4A IDH2 CYP11B2 MDM2 KCNQ1OT1 CACNA1S HP_ABNORMALITY_OF_NAIL_COLOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_NAIL_COLOR KANK2 GJB6 PLCD1 PEX1 TRPS1 RNU4ATAC PEX6 GJB2 CAST DSC3 STK11 ATP2A2 KIF11 FOXC2 DSP ABCA12 DSG1 GJA1 HP_THYROIDITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THYROIDITIS HLA-DQB1 IL7R FOXD3 TBX2 RAG1 CLCNKB TCF4 SOCS1 C1S PLCG2 RASGRP1 PTEN LRBA MST1 PIK3CA SLC37A4 CHD7 CASP10 FOXP3 AKT1 RAG2 FAS ADA2 ITCH PRKCD DCLRE1C HLA-DQA1 ZFAT ADA SEMA4D STAT5B CTLA4 GPR35 NLRP1 FASLG LIG4 TG TTC7A IL18BP RMRP SLC12A3 STAT1 IL2RG POLG SEC23B CDKN1B IL2RA HP_GRAVES_DISEASE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GRAVES_DISEASE SLC12A3 GABRA3 CACNA1S CLCNKB KCNJ18 HP_NEOPLASM_OF_THE_TONGUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_TONGUE PRKCD TRAF7 PLCB4 TMEM107 PDGFB EDN1 KIF7 BAP1 TERT DYNC2H1 TMEM216 GNAI3 NEK1 TCTN3 FAM149B1 WDPCP RASGRP1 FASLG OFD1 PIK3CA NF2 KIAA0753 SMARCE1 SUFU CPLANE1 SMARCB1 FAS PDE6D C2CD3 CASP10 TMEM231 INTU SMO MDM4 KAT6B AKT1 HP_NEOPLASM_OF_THE_ORAL_CAVITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_ORAL_CAVITY PTCH2 MLH1 TMEM107 PDGFB APC KIF7 FGF3 MSH2 TERT GNAI3 SUFU LMNA WRN BAP1 WDPCP RASGRP1 OFD1 HSPG2 PTCH1 CPLANE1 NEK1 SMARCB1 TCTN3 PDE6D C2CD3 CASP10 TMEM231 FAS INTU AKT1 PRKCD TRAF7 PLCB4 EDN1 PLAG1 DYNC2H1 TMEM216 MYC FAM149B1 FASLG PIK3CA NF2 KIAA0753 SMARCE1 MSH6 OCRL SMO MDM4 KAT6B HP_VAGINAL_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VAGINAL_NEOPLASM COL4A5 CEP57 COL4A6 TRIP13 BUB3 BUB1B NAB2 BUB1 STAT6 FH HP_TYPE_I_DIABETES_MELLITUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TYPE_I_DIABETES_MELLITUS HLA-DQB1 ABCC8 NEUROG3 PSTPIP1 MT-TS1 MIA3 MT-CO3 CLCNKB TCF4 MT-TL1 INS EDA FLT1 MT-ND6 CAT MT-CO1 MT-TE LRBA MST1 GCK HNF1A FOXP3 EIF2AK3 SLC29A3 STUB1 ADA2 MT-TF MT-CO2 ITCH TKT MT-TS2 MT-TQ HLA-DQA1 CORIN SEMA4D AIRE GPR35 STOX1 MT-ND1 MT-TW KCTD1 EDA2R TTC7A MT-ND5 IL18BP KCNJ11 SLC12A3 STAT1 STAT3 CNOT1 MMP2 MT-TH MT-ND4 DNAJC3 IL2RA MMP14 HP_CELLULITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CELLULITIS LMNA GJC2 SRP54 COL1A1 STAT3 BLNK BTK GATA2 GFI1 SLC35C1 NCF1 TCF3 CYBB KIF11 FOXC2 RAC2 ELANE PHEX VEGFC SHANK3 IGLL1 PIK3R1 SLC35A1 PIK3CD CD79A AGGF1 AEBP1 FLT4 IGHM PIEZO1 CD79B LRRC8A TCIRG1 MPEG1 CXCR4 NCF2 CYBA PLCG2 IL2RA IL6R TNFRSF1A PSTPIP1 HP_ABNORMAL_CEREBRAL_VASCULAR_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CEREBRAL_VASCULAR_MORPHOLOGY SDHD COL1A1 GTF2I B3GALT6 ENG COL3A1 PDCD10 F7 GAA LMNA MT-ND6 TTR MT-CO2 VHL MT-TV ZAP70 OBSL1 F13A1 ERCC8 FHOD3 MYH6 TGFB2 SERPINF2 SPTBN1 PLCB4 CYP26C1 MT-TS2 SMAD3 ABCC6 ACTA2 TPP2 ABCG5 SDHB LMAN1 IFIH1 PIK3CA SAMHD1 TREX1 TBX20 ITGB3 DNAJB11 APP GATA4 TBL2 ACVRL1 HEY2 PDGFRB MYLK NF1 GUCY1A1 PDGFB SDHC MCCC2 BAP1 ADA2 NDUFA8 DOCK8 RET CCM2 MT-TW TNNT2 PROC CFH CACNA1D MAX ACAD9 NCF1 PCCA TGFBR3 F8 DNAJC30 DNMT3A PIK3C2A IL6 MT-TC TNXB COL5A2 MYBPC3 GBA ANTXR1 ADAR ITGA2 BCL7B PIGA SERPINE1 RNF168 SMAD4 MDH2 CRELD1 BRCC3 SNAP29 GP1BA F5 SLC2A10 MYH11 MT-TF NPPA MPL ANGPTL6 ELN COL4A2 ATP7A TANGO2 EIF4H WFS1 JAG1 MT-TK DPAGT1 FN1 LDLRAP1 PRNP GATA6 KIF1B BUD23 ALX4 THSD1 TLL1 CST3 KANSL1 MCCC1 JAK2 MT-TS1 CLDN3 DYRK1B SMO DCX RNF213 PMM2 TP53 ODC1 GCDH HSD11B2 RPL10 XYLT2 GP1BB MSX2 SIAH1 RASA1 F10 TONSL ALG9 NR2F2 XYLT1 EPAS1 CPT2 FH MT-TQ USP18 CITED2 MTHFR SLC25A11 PET100 CFI GNAQ KCNJ5 CUL7 SDHAF2 TMEM270 SLC20A2 PNP STIM1 ITGA2B TENT5A ENPP1 F2 MYD88 PRKAR1A CLCN2 GTF2IRD1 STAT2 NAGS FBN1 FOXE3 IVD GYS1 KCNQ1 APOB CYP11B1 ASS1 SH2B3 PCSK9 AKT1 EDN1 GLA TGFB3 ACTB MECP2 HELLPAR KRAS TMEM127 ALOX5AP GGCX MCFD2 ACTG1 CD109 SLC19A2 HTRA1 METTL27 GANAB SCN5A FLNC CBS MT-TH NOTCH3 FARSB KRIT1 OTC SON MT-ND5 LOX MT-CO1 CPS1 DPM3 PCNT DLST RNASEH2B ZMPSTE24 COL4A1 COL5A1 TRAF7 LMBRD1 RFC2 FGG AGXT MFAP5 GDF2 PTEN SUFU EPHB4 ACTC1 FCGR2C MT-ND4 KIF20A KDELR2 TGFBR2 HBB RNASEH2C MT-TL1 NGLY1 PAFAH1B1 WRN CLIP2 SMARCAL1 WAS ABHD11 PKD1 TET2 SMARCB1 MMACHC RNASEH2A PRKCH LAT2 MBTPS2 STX1A MYPN NOS3 CCDC8 PROS1 SAMD9 NF2 SMARCE1 NKX2-5 MT-ND1 MLXIPL TGFBR1 GATA2 STAT1 LIMK1 BAZ1B SMAD2 TNNI3 TERT MT-CO3 GNAI3 PRKG1 PKD2 FGA ERCC6 BICC1 WIPF1 LRPPRC THPO ADAMTS13 LDLR CYP11B2 MAT2A NR3C1 FGB PCCB GTF2IRD2 FLNA MT-CYB SPARC SDHA FKBP6 CLDN4 VPS37D F13B NDE1 ABCG8 PLOD3 CALR MMUT COLGALT1 AIRE RFT1 ALPL BGN CD46 HP_DYSKINESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DYSKINESIA NDUFS4 MRE11 PRRT2 IREB2 BMPR1A MLH1 MECR CACNA1A RAB39B PDE10A NSUN2 C12orf4 GRIK2 KRAS AIMP1 SLC18A2 SYNJ1 GABRB2 PIGQ CLTC WASHC4 KCNQ5 NBEA SARS1 HIVEP2 CDK19 SLC13A5 MT-ND3 GRM7 FGF14 KDM5B PIK3CA TGFBR2 UBE4A EIF4G1 ATXN10 MED25 SCN1B PMS2 STX16 MRM2 VPS35 UFSP2 NDST1 KCNA2 MT-ND1 CDH15 DNAJC19 GABRG2 TSEN2 ATXN7 MLH3 ZC3H14 PODXL POLR3K KCNMA1 MT-ND4 CNKSR2 DDX3X MSH2 GBA NECAP1 TECR SLC6A3 MED23 KCNA1 FASTKD2 CSNK2B PIGP ZMYND11 TRAPPC9 TRPM3 COQ2 MYT1L GIGYF2 CELF2 DEAF1 NTRK2 SLC46A1 IQSEC1 LMAN2L MT-ND2 STXBP1 GABRA2 TRAK1 CLIP1 GNAO1 FOXG1 HCN1 CRBN METTL23 CDKL5 PRSS12 CASK SLC1A2 SEMA4A RPS20 ST3GAL3 MT-TW VPS13C UNC80 HTRA2 DCPS NDUFAF3 SIK1 SETD1B PRKRA CHMP2B ADCY5 DNAJC13 CUX1 ARV1 SLC25A10 PNKD SLC2A1 FGF13 B3GALNT2 TTC5 FBXO31 PARK7 ATP6V1A VPS13A RSRC1 ACTL6B XK PNPT1 ATP13A2 DLL1 CYP27A1 FRRS1L SLC25A22 UBA5 EZR PDGFB SNCA PANK2 AP3B2 MAN1B1 DMXL2 DNM1 PLP1 SIL1 MBD5 TRIM8 YIF1B MT-ND5 KCNB1 PURA PGAP1 SCN2A PIK3CD EDC3 TMEM43 CHAMP1 EPB41L1 MT-ATP6 FTL BRSK2 TSEN54 NEUROD2 LINS1 GRIN2B FMN2 SYT1 MSH6 CAMK2B PNKP SLC35A1 MICU1 SLC39A14 CIC GABRA5 PINK1 CYFIP2 ALKBH8 PRKN CACNG2 JAM2 MT-TK CACNA1B SCO2 TAOK1 PARS2 KIRREL3 AARS1 HNMT EPCAM TNIK SCN3A ASH1L SYNGAP1 RAB11A DPYS ATG7 B4GALNT1 NDUFS8 LRRK2 UCHL1 EEF1A2 DHDDS SLC12A2 PIGC MT-TL1 SCN8A SLC16A2 KIF1A SLC30A9 NALCN ARX PMS1 LRPPRC WWOX WIPI2 DNAJC6 YWHAG MBOAT7 SLC45A1 NDUFS2 FGF12 GRIN1 FAN1 SET MT-ND6 GNAS TCF4 MED12L GRIN2D PPP3CA DOCK8 C9orf72 AGA NCDN CUX2 NUS1 KNSTRN NDUFB8 NDUFA13 SURF1 MT-TV DALRD3 SZT2 INPP5K GABRB3 TUSC3 ACAT1 CC2D1A DYNC1H1 CRADD NEMF CAMK2A NMNAT1 HP_ANGIOEDEMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANGIOEDEMA HS3ST6 PLG XPNPEP2 SERPING1 F12 KNG1 DNASE1L3 PLCG2 SPINK5 MYOF ANGPT1 CPN1 HP_ABNORMAL_PIGMENTATION_OF_THE_ORAL_MUCOSA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PIGMENTATION_OF_THE_ORAL_MUCOSA ABCD1 XYLT1 XYLT2 STK11 KRT14 MTX2 ABCC6 HP_ABNORMAL_TRABECULAR_BONE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_TRABECULAR_BONE_MORPHOLOGY PTH1R TNFRSF11A CYP2R1 RECQL4 NHP2 CLCN5 TINF2 TNFRSF11B VDR DMP1 CTC1 TRPV4 SLC34A3 ANAPC1 CYP27B1 NPM1 PARN TERT PORCN PLCB3 RTEL1 DKC1 AMER1 NOP10 WRAP53 SLC29A3 TERC TCIRG1 USB1 NOTCH2 ENPP1 HP_PREMATURE_SKIN_WRINKLING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PREMATURE_SKIN_WRINKLING PIK3R1 TBL1XR1 C1R ALDH18A1 ENPP1 EDAR CDH11 AP2M1 POLR3A KRAS FBLN5 ATP6V0A2 ACD BRAF SLC25A24 TALDO1 DKC1 MAP2K1 ALG8 TGM5 ABCC6 RAF1 RTEL1 ZMPSTE24 ADAMTS2 MED12 KCNJ6 ZNF469 LMNA TERT EDA ATP6V1E1 PTEN NAA10 SYNGAP1 MRAS CHD2 EDARADD SMARCA2 COL3A1 TOR1A PARN FGFR3 ELN ADAMTSL2 SLC2A1 TINF2 CSTA LZTR1 ATP6V1A NEXMIF COG5 TWIST2 SLC6A1 FGFR2 PLOD1 CFTR SCN1A PYCR1 MAP2K2 PTPN11 RIT1 HP_LACK_OF_SKIN_ELASTICITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LACK_OF_SKIN_ELASTICITY SMARCAD1 ADAMTSL2 COL1A1 ENPP1 USP8 PDE11A AIP LMNA SDR9C7 WRN PHGDH SPEN PAH TP53 TGFBR2 ALOXE3 ABCC6 NIPAL4 LIPN ZMPSTE24 FBN1 ALOX12B POLD1 GNAS COL5A1 SMAD3 TGM1 CYP4F22 PRKAR1A FBLN5 SULT2B1 COPB1 PRKACA PSAT1 DLG4 COL5A2 PDE8B HRAS EFEMP2 TGFBR1 TGFB2 ABCA12 CUL4B HP_ABNORMAL_SHARPEY_FIBER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SHARPEY_FIBER_MORPHOLOGY HYAL1 PTPN2 CDC73 MEN1 PTPN22 FXYD2 KCNJ1 CLCNKB DMP1 SLC12A1 ATP7B LMNA ANKRD55 WRN ALPL PHEX PDGFRB MEFV ANKH GCM2 NOTCH3 SLC12A3 IL2RB HLA-B IL2RA ATP7A AP2S1 TNFRSF1A TNFRSF11B CD247 GNA11 ENPP1 STAT4 HP_ENTHESITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENTHESITIS DMP1 PTPN2 IL2RB HLA-B IL2RA ANKRD55 PHEX PTPN22 CD247 ENPP1 STAT4 HP_ABNORMALITY_OF_THE_CURVATURE_OF_THE_CORNEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_CURVATURE_OF_THE_CORNEA COL11A1 MYT1L PROM1 KMT2E ZMIZ1 CRX CCDC32 GTF2I CC2D2A KIF11 GRHL2 PCARE CA4 GTF2IRD1 ARL2BP USP45 INTS1 ARL6 OVOL2 RPE65 NTNG1 C1QBP PDE6A GPR143 DNAJC21 RERE OFD1 GUCY2D GDF6 SLC2A10 WDFY3 MBTPS2 ZNF469 EMC1 PPP2R5D TUB IDH3B EYS ANKRD11 MAN2B1 SLX4 PRPF3 SLC12A2 TGFBI SPATA7 DHDDS ZEB2 KMT2B CCDC28B LRAT VSX1 BLOC1S3 IFT140 APC2 GRIA4 TBC1D7 CEP78 MBD5 PRCD IMPDH1 AIPL1 MAG RPGR GATAD2B RNF113A ACTL6B METTL27 KCNMA1 TBL2 NR2E3 RFWD3 ARID1B CLDN19 KIAA1549 PDE6B IDH3A ERCC4 SAG COL17A1 RHO RGR COL9A1 PRPF31 OTUD5 RNU4ATAC HUWE1 XRCC2 PPP1R12A HS2ST1 CACNA1F CHMP1A BPTF MAP3K7 PRPH2 UBE3B IMPG2 PUS7 PTPN23 TOPORS BBS2 UBR7 GUCA1B LOXL3 BBS1 P4HTM GLRB COL1A2 ARCN1 IQCB1 STXBP1 ERCC3 CRB1 RHOA IFT88 RDH12 ADNP COL4A1 ERCC2 HK1 RP9 DSE RLIM YY1 NCF1 REEP6 DPYD ACTL6A FANCC RFC2 ZNF408 MAPK8IP3 TRIM37 HPDL CNGB1 ARHGEF18 SCAPER RP1 COL3A1 DNAJC30 UBE2T PIGQ RD3 CHST14 SEMA4A BCORL1 CERKL KDM4B AGBL5 RAD51 AEBP1 ARSG PSMD12 KCNV2 PITX2 ANTXR1 WAC BCL7B GTF2H5 AGO2 LCA5 POGZ COL8A2 SLC7A14 ROM1 MAD2L2 PALS1 JARID2 ABCA4 PCYT1A CHRDL1 NEUROD2 LMX1B AP1B1 NMNAT1 FANCI KCNJ13 ARL3 USP9X MYO1H BRCA2 CLIP2 SMARCAL1 DYRK1A FANCE MPLKIP WASF1 ABHD11 MARK3 DMPK SCUBE3 CLDN16 CEP290 SHOC2 PIGT USH2A NSD1 ELN PIEZO2 KRAS IFT172 SLC39A8 SLC4A11 PDE6G NIPBL PRMT7 EIF4H VARS1 LAT2 STX1A KIDINS220 TULP1 MAK PRPF8 PACS2 GNPTAB TRIP12 HGSNAT SVBP FANCA DPAGT1 NRL FBN1 TANC2 NFIX SETD2 MED27 AHI1 CNGA1 COL9A2 FSCN2 FANCL TARS1 BUD23 DHX38 HRAS KAT6A MIR184 CNOT3 CDHR1 RPGRIP1 PLOD1 BEST1 KLHL7 ZNF513 TGFB2 HARS1 LIMK1 TCF20 CLDN3 PRDM5 BAZ1B SETD5 CLDN11 ZEB1 TCF4 KAT8 FANCB CHD3 DPYSL5 NR2F1 KERA RNF2 KIZ DDX6 TTC8 MERTK GNB5 MED13 CLRN1 SNRNP200 POLR3GL EBF3 RLBP1 GTF2E2 NEK2 FIBP H1-4 AHR KDM5B NTNG2 GALNT2 BBS9 GTF2IRD2 DOCK3 PRPF6 RP1L1 CHST6 TBCE FLNA FANCF ARHGEF2 CFAP418 PRPF4 TEAD1 FKBP6 CHD4 CLDN4 HTT VPS37D FANCG MLXIPL RP2 RBP3 TNRC6B FAM161A MT-TS2 TYR TRMT1 COL9A3 EDEM3 BRCA1 TMEM270 TRAPPC4 POMGNT1 BRIP1 FANCD2 SATB1 FBXW11 SMG8 FANCM PALB2 SLC25A24 MADD RAD51C HP_IRIDODONESIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_IRIDODONESIS CHRDL1 FBN1 ADAMTS17 LTBP2 CPAMD8 HP_TIBIAL_TORSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TIBIAL_TORSION SCN1A GABRG2 STX1B FIBP ADGRV1 STXBP1 GABRA1 SCN2A HCN1 SCN1B SCN9A RBM8A SLC29A3 DDX6 SLC26A2 PCDH19 GABRD HP_SCARRING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCARRING ATP7A PLEC PROM1 C1R COL1A1 TFAP2A LAMB3 B3GALT6 LEMD3 NTRK1 UROS PCARE CA4 ARL2BP ERCC8 PRDM12 EBP COL7A1 PDE6A OFD1 COL17A1 COL1A2 ZNF469 NCSTN ECM1 IDH3B EYS CYP26C1 PRPF3 ERCC6 SMAD3 TGFBI DHDDS PRCD IMPDH1 ADAMTSL2 B4GALT7 RPGR TGFBR1 NR2E3 KIAA1549 PDE6B IDH3A EP300 SAG RHO CHST14 RGR PRPF31 NGLY1 CRX KRT14 ITGB4 MAP3K7 PRPH2 IMPG2 TOPORS BBS2 GUCA1B MMP1 ADA2 CARMIL2 PLOD1 GATA1 CPOX RHOA IFT88 RP9 DSE HLA-DRB1 COL5A1 LRP1 REEP6 ZNF408 SPATA7 COL12A1 CNGB1 ARHGEF18 SCAPER RP1 COL3A1 PPOX UROD SEMA4A CERKL CTSC AGBL5 TNFRSF11B AEBP1 COL5A2 FKBP14 POLA1 OCRL SLC7A14 ROM1 ABCA4 APC SLC35C1 ARL3 ERCC1 ARL6 LAMA3 LRAT MBTPS2 GJB2 USH2A ADAMTS2 C1S IFT172 HLA-A ITGA6 PDE6G KRT5 NPPA NCAPG2 DST CRB1 TULP1 MAK PRPF8 HGSNAT CREBBP BTNL2 NRL IFT140 AHI1 CNGA1 FSCN2 DHX38 NLRP1 CDHR1 BEST1 KLHL7 ZNF513 SLC39A13 PRDM5 LAMC2 KIZ TTC8 MERTK CLRN1 SNRNP200 RLBP1 RPE65 IKBKG NEK2 FERMT1 AHR TGFBR2 COL6A3 PRPF6 RP1L1 FLNA RDH12 CFAP418 TUB PRPF4 CLDN1 RP2 RBP3 SH3BP2 FAM161A ERCC4 CFI COL6A2 POMGNT1 PKP1 COL6A1 HP_ABNORMAL_ARACHNOID_MATER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ARACHNOID_MATER_MORPHOLOGY ADAT3 SCN1A OTUD5 SACS NRAS PUS3 SON NOTCH3 FGFR2 PKD2 PUF60 BICC1 DNAJC19 SHANK3 SCN2A PKD1 FOXC2 ATP6AP1 DNAJB11 XPNPEP3 NEK1 FGFR1 GPSM2 ARID2 GANAB KRAS TMEM231 OFD1 WAC PPP2R5D RTTN SH2B1 ALG9 NARS1 HP_TONGUE_THRUSTING http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TONGUE_THRUSTING GABBR2 BRAF STXBP1 FOXG1 KIF15 UBE3A NTNG1 CDKL5 DDC MECP2 SHANK3 OCA2 SMC1A HP_CEREBRAL_VISUAL_IMPAIRMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CEREBRAL_VISUAL_IMPAIRMENT POLG2 SEPSECS DLL1 LMNB1 CC2D2A PIGA CCDC47 AHDC1 PTCH1 DPM1 VPS51 RAB3GAP1 NSUN2 C12orf4 ZIC2 MT-CO2 GRIK2 MT-TV AIMP1 RAB3GAP2 RERE GABRB2 GRM7 TDGF1 FGF8 CLTC WASHC4 KCNQ5 EMC1 VPS11 NBEA SARS1 FCSK CLCN4 HIVEP2 BRAF KDM5B CACNA1B UBE4A TELO2 DISP1 MED25 TBCK SIX3 GNB1 UFSP2 NDST1 TBC1D20 CDH15 FGF12 ADARB1 FGFR1 ZC3H14 SCN1A CDKL5 GAS1 TECR FOXH1 MED23 PARS2 CSNK2B ZMYND11 MTHFS TRAPPC9 TRPM3 TRAPPC12 MYT1L PDSS2 PSMD12 IQSEC1 LMAN2L GLI2 NODAL STXBP1 CLIP1 HECW2 CACNA1E STAG2 RNF13 CHMP1A CRBN METTL23 MT-ND6 SLC35A2 PRSS12 SHANK3 SON MT-ND5 NAGA PIGP NADK2 POLG P4HTM VAMP2 ST3GAL3 SHH PIGS SPATA5 ADNP MT-TW DOCK7 MAPK8IP3 HK1 DCPS SETD1B MT-TQ CACNA1D AFF3 CUX1 CERT1 FDFT1 GRIN2D TGIF1 TSEN2 PIGQ B3GALNT2 RRM2B TTC5 FBXO31 SELENOI GLYCTK MT-TC NARS2 COG5 RSRC1 SLC25A4 CDON SCN3A FRRS1L CLCN6 EZR CEP85L MT-CO1 NEUROD2 MAN1B1 GABRB1 AMPD2 ARHGDIA DIAPH1 KIF5A MT-TL1 MBD5 YIF1B SMC1A TIMM8A PGAP1 COQ2 POGZ EDC3 MT-TF CHAMP1 EPB41L1 TRAF7 DEAF1 PIGT SLC25A1 BRSK2 ASNS LINS1 FMN2 FOXRED1 TANGO2 CAMK2B RAB18 CIC MT-TK ALKBH8 COPB2 PPP2R1A CACNG2 TAOK1 TUBGCP2 KIRREL3 HNMT TNIK KAT6A ASH1L SYNGAP1 RAB11A MT-TS1 PYCR2 ATN1 PIGY SPTBN4 MT-ND1 CHD3 EEF1A2 NR2F1 PIGU SLC12A2 ST3GAL5 PIGC KIF1A GRIN2B POLR3GL SNRPN MBOAT7 SLC45A1 GRIN1 RALGAPA1 SET MT-CYB PPP3CA TCF4 TWNK MED12L TSEN15 GABRA2 DOCK8 TRAPPC2L NCDN PET100 COX6B1 PHGDH TSEN54 TUSC3 MT-TS2 CC2D1A DYNC1H1 CRADD TSEN34 MT-CO3 NEMF CAMK2A HP_ABNORMAL_GLIAL_CELL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_GLIAL_CELL_MORPHOLOGY PSEN1 THOC2 MAPT POT1 FUS NF1 BMPR1A PIGA MLH1 PDHA1 ADAR ATXN3 CHCHD10 CDKN2B KRAS FARS2 C9orf72 APC ADH1C LRRK2 ERCC8 STRADA MSH2 PIK3CA TGFBR2 VCP EIF4G1 PMS2 LRPPRC CDKN2A TSC2 TARDBP APC2 L2HGDH MLH3 GRN EIF2B5 ETFA GBA SMO GIGYF2 SLC25A46 NGLY1 TBP CHEK2 SEMA4A SNCA TSC1 POLG RPS20 PLP1 RELA TBK1 RANBP2 MTOR IDH1 EHMT1 IFNG AP4M1 NDUFAF3 CHMP2B YY1 GLUD2 TFG EIF2B2 DNAJC13 LONP1 TMEM106B MOCS1 TP53 MT-ATP6 TSEN54 SETBP1 NARS2 MDM2 MSH3 UBQLN2 ARX CYP27A1 LMNB1 TREM2 PRNP COX15 TYROBP BRCA2 NAXD PLA2G6 SNCAIP FBXO7 ATXN8OS NF2 CDKN1B PMPCA NSD1 MSH6 SQSTM1 MAN2B1 ZNF335 NBN EIF2B1 SLC30A10 SERPINI1 PRKN MOCS2 NUP62 SETD2 SCO2 TBCD HTT EPCAM AKT3 VRK1 ETFDH ATP6V1A HSD17B4 TLR3 NR4A2 ERCC6 AVP PAX2 PMS1 KCNT1 KDM3B ATXN2 LAMA2 NDUFS2 ETFB FAN1 EIF2B4 VPS35 ERBB2 ZFTA CSF1R DYRK1A AIFM1 CDKN2C BRAT1 MEN1 CDKN1A GDAP2 NDUFB8 SURF1 IDH2 EIF2B3 LRP5 KMT2C HP_ABNORMAL_ASTROCYTE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ASTROCYTE_MORPHOLOGY PSEN1 APC POT1 NF1 BRCA2 ERCC6 CHEK2 ADAR TSC1 SQSTM1 LAMA2 MAPT POLG NF2 TSC2 C9orf72 NSD1 MTOR IDH1 PMS2 IFNG ERCC8 STRADA ERBB2 MSH6 CHMP2B TMEM106B AIFM1 SLC30A10 TREM2 TP53 CDKN2A NUP62 PRNP SETD2 MT-ATP6 APC2 GRN MSH3 IDH2 MDM2 VCP MLH1 HP_ABNORMAL_THORACIC_SPINE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_THORACIC_SPINE_MORPHOLOGY TPM2 AK9 CDH11 TRAPPC2 TBX5 FLI1 SMARCAL1 MPLKIP SC5D PCGF2 WDR81 CHRND GBA KIF22 TMEM231 COL13A1 AEBP1 ITCH MAN2B1 VPS13B ANKRD11 CHRNB1 KY XYLT2 NEPRO SCN4A DES CHRNA1 ERLIN1 MGAT2 MTRFR RAPSN TARS1 COL2A1 SOX5 AIFM1 RNF113A TUBB3 DOK7 PYCR2 SH3TC2 MIR140 MOGS NPR2 TRPV4 GUSB GNPTAB CHRNE SPRTN PHF8 DYM MYPN ALDH3A2 VPS33A CCN6 GTF2E2 PIK3C2A AMER1 PLOD1 ERCC3 ALMS1 PUF60 ERCC2 ZMPSTE24 RBBP8 EXTL3 MUSK SGCA MED12L POP1 LRP4 FLNB PEX5 GDF3 SRD5A3 LMNA SLC26A2 IARS2 HINT1 NEK9 FGFR3 NARS1 TPM3 AGRN GTF2H5 PIK3R2 CYP27A1 TONSL LHX3 HP_ABNORMAL_LUMBAR_SPINE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LUMBAR_SPINE_MORPHOLOGY MAN2B1 MED12L ERLIN2 NPR2 CDH11 POP1 FLNB GUSB NEPRO TRAPPC2 GNPTAB COL2A1 VPS33A BMPER CCN6 SLC26A2 POLR3GL MGAT2 SC5D AMER1 FGFR3 NTRK1 GBA KIF22 ATG7 RPS6KA3 EXTL3 LHX3 HP_SELF_INJURIOUS_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SELF_INJURIOUS_BEHAVIOR SIM1 THOC2 HERC2 NTRK1 BCOR GRIN1 RAI1 NDE1 DEAF1 SLITRK1 SLC6A17 FLII SPOP NDP SLC6A8 MMP23B RERE GRM7 FBXW11 PIGQ KMT2C CLTC NFIX KCNQ5 SCN11A RTTN NBEA HIVEP2 ADSL KAT5 KDM5B SPEN TKT SCN1B SNRPN NEXMIF CDH15 WASF1 UBE2A MGAT2 MBD5 VPS13A GATAD2B KCNA1 CSNK2B PIGP MAPK1 ZMYND11 SHANK3 TRPM3 MADD EP300 AUH MYT1L SYT1 STXBP1 HECW2 LARP7 GNAO1 INPP5E MAGEL2 SATB2 GRIA3 USP7 PRKCZ CDKL5 GABBR2 ZBTB20 CASK TMCO1 SMARCC2 TSC1 PAH NDN VAMP2 PIGF TSC2 ALDH5A1 IQSEC2 UNC80 GAMT EHMT1 LUZP1 SIK1 SETD1B OCA2 CUX1 KIF15 SVBP CDH2 HDAC4 TMEM231 OCRL DLL1 POGZ SLC25A22 DMXL2 NTNG2 TRIM8 KMT2E DCHS1 MAOA SCN2A AP1S2 CHAMP1 EPB41L1 OPHN1 GRIA2 BRSK2 NEUROD2 WAC NIPBL CAMK2B ABCA12 PNKP HPRT1 KCNAB2 GJB2 FMR1 CIC CREBBP RLIM ASXL3 DPAGT1 DHCR7 CACNG2 TAOK1 UBE4B KIRREL3 SOX5 KIF5C ASH1L SYNGAP1 KPTN RAB11A DPYD GLS CTNNB1 ATG7 SNORD116-1 FOXP1 HNRNPH2 HDC SKI TCF4 ODC1 CLTCL1 EEF1A2 NAT8L CLCN4 KIF1A DNM1 HSPG2 ALG14 NALCN SLC6A4 TRIO ARX GRIN2B HTR2A CASZ1 PRDM16 PWRN1 NAA10 SET MKRN3 SLC1A4 PWAR1 RPL10 ATRX MED12L ATP1A1 DOCK8 NPAP1 ELP2 SPATA5 PPP3CA RPS6KA3 DYNC1H1 SMG8 GABRD PDPN SNORD115-1 TREX1 CAMK2A FAT4 HP_HYPOPLASIA_OF_THE_EAR_CARTILAGE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOPLASIA_OF_THE_EAR_CARTILAGE LAGE3 WDR73 NUP107 TPRKB WDR4 OSGEP NUP133 TP53RK DDR2 CD96 HP_MEDIASTINAL_LYMPHADENOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MEDIASTINAL_LYMPHADENOPATHY HLA-DRB1 MALT1 CYBC1 P4HA2 EWSR1 TERT RASGRP1 NCF4 PTPN22 BCL6 MAGT1 NCF1 EIF2AK4 BIRC3 BTNL2 APOE WT1 NCF2 HLA-B HLA-DPB1 BCL2 PRKCD BCL10 CYBA CYBB FOXP1 HP_GASTROINTESTINAL_STROMA_TUMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GASTROINTESTINAL_STROMA_TUMOR SDHD NF1 SDHB CR2 SDHC TNFSF12 NFKB2 KIT PDGFRA SDHA PRKCD TNFRSF13B ICOS CD81 TNFRSF13C NFKB1 MS4A1 CD19 HP_HYPERCOAGULABILITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERCOAGULABILITY HBB AGGF1 SLC4A1 SPTA1 EPB42 DAAM2 PROC F9 HRG PROS1 MYD88 GATA2 SPTB F5 ANK1 THBD DLD HP_LICHENIFICATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LICHENIFICATION VEGFC FLT4 CD28 CARD14 NTRK1 GJC2 LBR TNFRSF1B OSMR HLA-DRA CTLA4 COL7A1 CSTA HP_GERM_CELL_NEOPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GERM_CELL_NEOPLASIA DHH GATA4 RNF43 PIK3CA KEAP1 TP53 CTNNB1 AR KCNQ1 CHEK2 FGFR3 STK11 SOX9 PAX6 AKT1 DICER1 WT1 MNX1 NSD1 MAP3K1 KIT NR5A1 KCNQ1OT1 ZFPM2 WWOX FGFR2 STS CDKN1C NR0B1 IGF2 PRKN SRY SETD2 DHX37 APC2 CDKN2A SETBP1 MSH3 MDM2 VAMP7 DMRT3 CDH1 BCL10 OPCML ERBB2 HP_LARGE_FACE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LARGE_FACE MYT1L RPL10 KMT2E CCDC32 FMR1 NF1 MGP SATB2 BRWD3 EYA1 KRAS SUFU SLC18A3 TPM3 ERCC8 EIF2S3 RAI1 ARMC9 DEAF1 AHI1 APC2 HNRNPK TMEM237 MAN1B1 SPEN PEX13 APC SLC9A6 NTNG1 KANSL1 FLII GPR101 TCTN3 CAMTA1 CHRNG IDUA HYLS1 SLC2A10 WDFY3 OTUD6B TSPAN7 NFIX PPP2R5D CLCN4 STRADA CEP41 MYL2 BCOR ANKRD11 NSDHL MSTO1 TMEM216 ERCC6 SMAD3 RPGRIP1L SLC12A2 AGA PRKACA CHRNE SIN3A KCNK9 UBE2A AKT1 AIP GRIA4 MYO9A ARL13B ATAD3A RAPSN MID2 CEP104 DDX3X ASXL2 DOCK3 INPP5E CHAMP1 ACTL6B CEP120 KCNMA1 TCF20 RECQL4 PQBP1 ZNF423 CBY1 ARL3 MAP2K2 TCTN1 FBXO11 HACD1 HUWE1 TRAIP PPP1R12A HS2ST1 ACTA1 BPTF UBE3B PYROXD1 MYPN PUS7 PTPN23 SMS UBR7 CCDC174 PTEN KBTBD13 NFIB PDE6D COL13A1 BIN1 SLC6A8 NONO SOX6 RLIM TPM2 AP1S2 ACTL6A ATP7A CHRNB1 MAPK8IP3 HPDL TTN TAF1 FAM149B1 B3GLCT MOCS1 TMEM67 POLA1 SYT2 BCORL1 MKS1 CRKL KDM4B HDAC4 BCR PSMD12 TET3 SLC25A1 MTM1 FGF3 FLNA KLHL41 OCRL AGO2 PTCH1 SELENON TGFB3 POC1A ITGA7 PALS1 JARID2 C12orf57 SPEG SEC24C NEB SNAP29 ALKBH8 SLC9A7 PRKACB KIAA0586 COMT TMEM138 PDE4D ZMIZ1 PAK1 JMJD1C PURA TLK2 MMACHC ERCC1 RMRP WASF1 TCTN2 PCGF2 SCUBE3 ZNF711 SNAP25 OPHN1 CHAT NSD1 COL3A1 UPF3B CRLF1 PBX1 DDR2 TRIP12 AGRN MRAS SVBP BRAF MOCS2 HERC1 FBN1 TANC2 NHS SETD2 MED27 MYH3 CCDC115 CPLANE1 RUSC2 MED12 CEP290 HRAS KATNIP KAT6A NKAP SGCG TBL1XR1 ASXL1 CNOT3 MAPK1 ATG7 HIRA PIBF1 IQSEC2 NBAS RAB39B NSUN2 PIGK PTCH2 SETBP1 PMM2 TBX1 CC2D2A SLC12A6 SIX1 KIF7 TAB2 KAT8 DPYSL5 PIGU B9D1 PHF8 SYNGAP1 SLC16A2 CLCF1 DDX6 MYH7 OFD1 UFD1 MED13 EBF3 XRCC4 RYR1 MAP2K1 VAMP1 NTNG2 GALNT2 GFPT1 GP1BB ALG12 MEIS2 TONSL EXTL3 ADAT3 CSPP1 BRAT1 ARVCF TMEM231 FLNB HTT KIAA0753 MAP3K20 PRDX1 TNRC6B RREB1 CEP57 NPHP1 TRMT1 ERCC4 TRAPPC4 NFIA SATB1 SLC5A7 STEEP1 FBXW11 SNX14 RIC1 WNT7A MADD HP_PANCREATIC_FIBROSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PANCREATIC_FIBROSIS TMEM107 TMEM67 NPHP3 TMEM216 CC2D2A TCTN2 TCTN1 TCTN3 B9D1 B9D2 NEK1 MKS1 TMEM231 DYNC2I1 TXNDC15 RPGRIP1 RPGRIP1L PTRH2 CSPP1 TMEM237 CEP290 HP_NEOPLASM_OF_THE_PARATHYROID_GLAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_PARATHYROID_GLAND GCM2 CDC73 MEN1 NF1 CDKN2C PRKAR1A IDH1 CLCNKB CDKN1A CDKN1B RET TSC1 CDKN2B TSC2 IDH2 SLC12A3 FLCN CASR HP_HYPERTENSIVE_CRISIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERTENSIVE_CRISIS IL12B TBX1 SEC24C CCR6 HLA-B CAV1 RREB1 HLA-DRB1 MYMK ARVCF COMT HIRA MLX JMJD1C GP1BB UFD1 CCN2 IRF5 HP_ABNORMAL_SOFT_PALATE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SOFT_PALATE_MORPHOLOGY NXN RPS28 DLL1 SMPD4 RPS15A CDH11 ADA2 POMT2 PIGL PTCH1 RPL18 FKRP HYLS1 AMMECR1 ZIC2 DDX59 SELENOI ROR2 IRF6 COL2A1 RPL35 ESS2 TDGF1 FGF8 KMT2C SMAD4 PIGV RPL35A SMCHD1 BMP4 POMK SPTBN1 PLCB4 BCOR EDN1 TP63 GATA1 DAG1 TXNL4A SLX4 LARGE1 DISP1 SMAD3 SIX3 TBX1 ZEB2 TBX22 KCNK9 TSR2 FGFR1 FGFR3 PSAT1 EYA1 PIGY GAS1 GRHL3 DDX3X FOXH1 FTO TCOF1 SHMT2 TGFBR1 SEMA3E RPS27 RFWD3 RECQL4 DGCR8 XYLT1 KIF14 DLX4 ERCC4 MSX2 KIF7 GLI2 NODAL XRCC2 STAG2 FGFR2 MAP3K7 CDC6 CUL3 SEC23A SON RPS20 RPL5 AMER1 IGBP1 SHH NEK1 PPP1CB CDT1 POMGNT2 RPS29 HYAL1 CDH1 RPS10 WDR35 RPS26 FANCC RPL26 TTN PIGW TGIF1 COL11A2 ORC1 POMT1 GMNN UBE2T MYLPF HNRNPK POLA1 MSX1 RAD51 AEBP1 ALG3 FKBP14 CDON COL11A1 CHD7 NECTIN1 SMARCD1 RPS24 B4GAT1 PGAP3 TGFB3 MAD2L2 SPEG ZPR1 BICRA SPECC1L RPL27 RPS23 SMC1A DVL1 USP9X BRCA2 TTC37 SERPING1 PGAP1 FANCE PGAP2 DLG3 ORC4 UBB ARHGAP29 DGCR2 DLK1 TBCE TMEM231 FANCI COL4A1 STAC3 GLI3 ATP6V1B2 FKTN NONO CRPPA RLIM FANCA RPL15 SNRPB RPS19 FANCL IFT140 PGM1 RPS7 EIF4A3 DGCR6 TUBB6 RAI1 TGFB2 SLC39A13 CDC45 FGF10 SF3B4 PTDSS1 RPL11 SIX1 B3GALNT2 FANCB GNAI3 POLR3A PIEZO2 PHGDH PIGO DHCR24 SLC25A19 ALG9 RYR1 SNRPN RPL31 KCNN3 BIN1 TGFBR2 B4GALT7 SIAH1 SATB2 RNU4ATAC POMGNT1 SETD5 MEG3 FLNA FANCF THOC6 DYRK1A KCNH1 FANCG DLG1 RTL1 BRCA1 TCTN3 ORC6 RXYLT1 RPS17 BRIP1 FANCD2 HAAO SMS FANCM PALB2 BGN RAD51C KAT6B HP_ABNORMAL_EATING_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EATING_BEHAVIOR SIM1 SOX4 ARID2 ABCC8 MC4R CLCNKB UBE3A PREPL SH2B1 HERC2 SLC18A3 SPEN PCDH19 MEN1 GNAS HNF1A MMP23B SNAP25 YY1 DHPS CHAT MAPT ARID1B MAGEL2 SMARCE1 LEP UCP2 LEPR OCA2 SNRPN KCNAB2 AGRN CTNNB1 POMC NEXMIF CACNA1A UBE4B MYO9A MBD5 SMARCA4 KCNJ10 DPF2 NDN PTPN22 DPYD KCNJ11 SETD2 BSCL2 SNORD116-1 NTRK2 BRAF SKI PLA2G6 SMARCB1 NKX2-1 LARP7 SYNGAP1 SATB2 RERE PRKCZ HSPG2 PACS1 MAN1B1 IFT74 SLC25A13 CASZ1 SLC12A3 VAMP1 PSEN1 PRDM16 PWRN1 ALMS1 ZNF699 BBS9 ADNP SLC2A3 COL13A1 GRN SLC5A2 MKRN3 LUZP1 PWAR1 GPR101 AGPAT2 SMARCC2 SLC7A7 NPAP1 HTT ATP10A SLC3A1 SYT2 ELP2 SMARCD1 SCN4A ITPR3 SLC25A1 IL6 ACAT1 MN1 SLC5A7 GABRD PDPN SNORD115-1 SOX11 ARID1A PCSK1 HP_BULIMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BULIMIA NDN SNRPN MAGEL2 OCA2 NEXMIF HP_VASCULAR_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VASCULAR_NEOPLASM NSD2 TENT5A SDHD NF1 TFAP2A NRAS LEMD3 DIS3L2 ENG GFI1 KRAS VHL PTEN IDH1 ESCO2 SPEN EIF2AK4 PIK3CA SIX3 HOXD13 NDP FLT4 GLI2 BRAF GLI3 CYP26C1 CTSA NELFA KANSL1 TMEM127 TEK SDHB WNT5A TSC2 AKT1 APC2 MGAT2 RRAS2 RET TGIF1 RASA1 MYF6 RECQL4 ARID1B NOTCH1 ACVRL1 SEC23A FGF8 MAP2K2 ATP6V1B2 KLLN PTH1R SDHC TSC1 SRP54 TBX2 ZIC2 CTBP1 CDON MPL DLST FOXH1 PPP1CB CCM2 HRAS IFNG FGFRL1 ANTXR1 SHH CPLX1 MAX DPM1 NODAL MSL3 SLC26A2 GDF2 SETBP1 EPHB4 USF3 CD96 TCIRG1 MTMR14 SEC23B GAS1 PIGG FGFR1 MDH2 KDELR2 GNAQ DVL1 BIN1 CALR SHOC2 NSD1 TET2 LETM1 MTM1 STAC3 MBTPS2 DHCR7 JAK2 SETD2 AGGF1 KIF1B CCDC22 ASXL1 PDCD10 KDM6B TBC1D24 ARL6IP6 MTOR GNPTAB RYR1 KDR DVL3 DNM2 CREBBP GNA14 MAP2K1 IDH2 CCND1 PTCH1 PUF60 OFD1 SMAD4 EXTL3 BMPR1A SDHA FGFR2 FH POR SRD5A3 TDGF1 ELANE KRIT1 SLC25A11 DLL1 SDHAF2 FZD2 GPC6 EP300 WASHC5 DISP1 SUFU HS2ST1 HP_NEOPLASM_OF_THE_RECTUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_RECTUM PIK3CA GREM1 SDHC RNF43 KEAP1 BMPR1A SDHB MLH1 MUTYH PDGFRA PTEN CHEK2 SEMA4A PMS1 SEC23B SMAD4 KRAS RPS20 POLD1 DICER1 FAN1 POLE MSH6 TGFBR2 KIT NTHL1 PMS2 SDHA TP53 STK11 ENG MLH3 CDKN2A MSH3 EPCAM MSH2 MDM2 USF3 SDHD AKT1 KLLN AXIN2 HP_ABNORMALITY_OF_THE_HUMERORADIAL_JOINT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_HUMERORADIAL_JOINT SHOX ATR TENT5A KDELR2 COL1A1 RNU4ATAC B3GAT3 SMAD6 GDF5 FGFR2 TBX15 MAP3K7 DONSON FGFR1 B3GALT6 CREBBP POR FZD2 CYP26B1 NOG GSC B4GALT7 WNT7A EXOC6B IFITM5 BMP1 NIPBL COL27A1 LMX1B FLNA SKI ERCC1 MBTPS2 AFF3 CD96 EXTL3 CHRNG CHST3 PRKAR1A PTDSS1 FGF9 COL5A1 SRCAP COL5A2 GPC6 EP300 NOTCH2 ASXL1 KIF22 ARID1B SLC39A13 SCARF2 HP_CHEST_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHEST_PAIN SDHD TGFBR2 HLA-DRB1 PRTN3 HLA-DPA1 PRKAR1A FBN1 FOXE3 WAS MYH11 VHL DBH GNAS CRLF1 TMEM43 MPL MEFV SCNN1G HLA-DQA1 TGFB2 STAT4 TGFB3 COL3A1 MYH7 SCN4A STX16 BTNL2 TMEM127 SDHB IRAK1 ACTA2 IL12B TGFBR1 KIF1B RET RASA1 MLX JAK2 RNF6 SPP1 HEY2 SCNN1A MYLK TP53 TSC1 SMAD2 HLA-B SDHC ENG TSC2 PRKG1 SLC34A2 APC BAP1 PLN WIPF1 CTNNB1 THPO LOX PNPLA2 EXT1 SH2B3 DPM3 DLST HBB MAT2A DLEC1 ELN COL4A6 SCNN1B CDH2 HLA-DQB1 TNNC1 PTPN22 EPAS1 SDHA MAX SMAD3 FH HLA-DPB1 NOD2 MFAP5 COL4A5 MT-TK PPOX MYL2 DNMT3A SLC25A11 SDHAF2 CFTR TET2 CALR MYBPC3 NOS1 WWOX CTLA4 PIGA NF1 MEF2A TNFRSF1A EXT2 SMAD4 MDH2 HP_ATELECTASIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ATELECTASIS SPEF2 ABCA3 TBX1 SEC24C NHLRC2 TSC1 TSC2 B3GALT6 DNAI2 CCDC39 STAT3 CFAP221 COMT DNAH1 ODAD2 RSPH4A DNAAF6 JMJD1C DNAAF2 UFD1 ODAD3 DRC1 LAMA2 DNAH9 RSPH9 MCIDAS DNAH11 DNAAF3 CCDC40 CCDC103 PLEC GAS8 GP1BB DNAAF4 TTC12 CCNO DNAAF1 DNAJB13 CFAP300 ARVCF PAX3 SFTPC RSPH1 DNAAF5 RPGR CCDC65 FOXJ1 ODAD1 SFTPB OFD1 SPAG1 NKX2-1 RIPK4 ZMYND10 RREB1 ASAH1 DNAI1 NME8 NEK10 DNAH5 ODAD4 HIRA OCRL RSPH3 CXCR4 DNAAF11 CFAP298 LRRC56 HYDIN DNAL1 STK36 GAS2L2 HP_ESOPHAGEAL_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ESOPHAGEAL_NEOPLASM MYH11 SDHB SDHC RHBDF2 KIT PDGFRA MSR1 SDHA COL4A5 STK11 WWOX BLM ASCC1 TGFBR2 RAD21 FH CTHRC1 DCC APC AAGAB DLEC1 STAT1 LZTS1 RNF6 COL4A6 COL14A1 HP_SCHIZOPHRENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCHIZOPHRENIA TBX1 SEC24C NKX2-1 DAOA KRT81 MTHFR SYN2 ARSA COMT PRODH CHRNA7 MED12 HTR2A APOL2 JMJD1C RBM12 UPF3B UFD1 USH1C ADGRV1 CAT KRT83 MT-TE ESPN PDZD7 CDH23 SHANK3 PCDH15 KRT86 WFS1 FLI1 GP1BB VPS35 GJA5 USH2A ZDHHC9 DRD3 RTN4R DNAJC13 GJA8 MSTO1 EIF4G1 CIB2 ARVCF ATP2A2 APOL4 DSG4 LRRK2 CHI3L1 MYO7A DNMT3A CEP78 ARSG MT-TS2 RREB1 GBA USH1G ATG7 HIRA PSAP HARS1 SETD1A GIGYF2 WHRN CLRN1 FTSJ1 SNCA HP_MANIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MANIA TBX1 SEC24C TWNK FA2H MECP2 MT-TS1 MT-TS2 MT-TQ MT-CO3 ARVCF COMT MT-TL1 CLCN4 CHRNA7 ATP2A2 VPS16 JMJD1C MT-ND6 USP8 POLG UFD1 DNMT3A MT-CO1 TBCK MT-ND1 POLG2 RRM2B MT-TW SLC25A13 RPS6KA3 SMPD1 RREB1 CDH23 MT-ND5 SLC25A4 HIRA FLI1 MT-TH GP1BB MT-ND4 MT-TF MT-CO2 CEP85L HP_ABNORMALITY_OF_SALIVATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_SALIVATION SIM1 MRE11 SATB1 PPARGC1A SLC12A5 POU3F3 ATP6AP2 PDE10A ATP7B TAF15 EIF2S3 RTL1 AP4E1 SPEN PTS CHMP2B CFAP410 SRPX2 GRIN2A ZNF41 AP4S1 FGF10 SLC9A7 SNRPN SPTBN1 ZNF81 TARDBP VAPB STXBP1 FRMPD4 TP63 NEXMIF AGTR2 PTCHD1 MATR3 HPDL TBK1 ARX QDPR GABRG2 FGFR3 MECP2 SLC16A2 SPART FTSJ1 PAK3 SHMT2 LBR ANXA11 TH ALS2 SCN9A SH3TC2 LMNB2 ANG FOXG1 SATB2 GPT2 ZC4H2 PON1 SLC12A2 GABBR2 SYP DLG3 MAGEL2 GLE1 POLR3A FGFR2 MEG3 AP4M1 CLDN10 SMARCA2 UBQLN2 CERT1 GABRA1 NOD2 FUS KIF15 ZBTB11 FOXP2 IKZF1 GSN GCH1 NRXN1 GFM2 VPS13A BCORL1 GNS NEK1 DMD UBE3A TASP1 ZEB2 ACSL4 ZNF711 CNKSR2 MID2 NTNG2 SCN2A ARHGEF6 ATRX HLA-B SLC9A6 SQSTM1 SCN1B SERPING1 RAB39B PCGF2 GDI1 ATXN2 C9orf72 SCN1A RPS6KA3 ALG13 ADGRG1 OCA2 CHCHD10 IRF5 TREM2 UNC13A DLAT FIG4 USP27X NONO TANGO2 HERC1 HNRNPA1 TSPOAP1 DEAF1 VCP CCR6 ATP1A3 TSPAN7 CCNF FOXP1 MED12 HNRNPH2 PLA2G6 PFN1 DCTN1 SETD5 IQSEC2 CLDN11 PON2 AP4B1 STEEP1 HLA-DRB1 POLR3B MED27 PRPS1 CCN2 SOD1 IL1RAPL1 PI4KA UPF3B PON3 GLT8D1 OPTN ERBB4 USP9X EPHA4 PCDH19 EXTL3 DAO CLCN4 VAC14 EDARADD NEFH PRPH ATP10A PMP22 FBLN1 HCFC1 CAV1 STRADA TUBB2B DLK1 CHRM3 HP_GANGRENE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GANGRENE ABCC6 HLA-B ENPP1 PRTN3 UBAC2 IL10 HLA-DPA1 IL23R KIF11 SDR9C7 IL12A PTPN22 CAT HLA-DRB1 AGXT TBL1XR1 MEFV ALOXE3 CCR1 NIPAL4 LIPN STAT5B KLRC4 STAT4 CTLA4 ALOX12B IL12A-AS1 C4A FIP1L1 PROC PRKAR1A PROS1 FAS CD28 HLA-DPB1 P4HA2 ZBTB16 TNFRSF1B CYP4F22 NABP1 TGM1 SULT2B1 IL12B ERAP1 RARA BCOR NUMA1 NPM1 TLR4 ABCA12 MLX STAT3 PML IRF2BP2 HP_CLUBBING_OF_FINGERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLUBBING_OF_FINGERS TERC SFTPA2 RTEL1 TGFB1 TERT SFTPA1 RASGRP1 SLC34A2 FAM13A DSP INTU IL21 DPP9 NLRP3 EIF2AK4 SFTPC MUC5B LRBA ATP11A CD55 STN1 FCGR2A PTEN PTH1R PARN NCKAP1L SLCO2A1 TLL1 PSMB8 CFTR STK11 ABCA3 HSPG2 SLC5A6 BMPR1A HP_CLUBBING_OF_TOES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLUBBING_OF_TOES GJB6 FANCF HPGD XRCC2 FANCB FANCC SLX4 FANCA SMARCA2 SLCO2A1 UBE2T BRCA2 FANCG FANCE RHBDF2 FANCL RAD51 BRCA1 UBE2A BRIP1 FANCD2 RFWD3 PIGL TLL1 FANCM ERCC4 PALB2 FANCI MAD2L2 RAD51C HP_VISCERAL_ANGIOMATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VISCERAL_ANGIOMATOSIS PTEN PIK3CA TENT5A FGFR2 AKT1 KDELR2 MBTPS2 IDH2 ENG SLC26A2 KRAS GNAQ TEK ACVRL1 GDF2 PTH1R IDH1 SMAD4 FGFR1 HP_ABNORMALITY_OF_THE_LYMPHATIC_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_LYMPHATIC_SYSTEM TNFRSF13B PPARG RNU4ATAC A2ML1 RAG1 CCDC47 FAT4 IFNGR1 GAA PTPN22 DPM1 RNASEH2A MAP2K2 KRAS KLF1 DDRGK1 CDKN2B RAB23 DCDC2 SH2B3 CARD9 FGA CBL STEAP3 ERCC8 BRAF MYRF CENPF FAS SPEN CTSA TET2 TPP2 ZEB2 IL2RG SOS2 IFIH1 SAMHD1 AKT1 BACH2 SC5D RHCE BCOR LMNA SOS1 STAT3 HBB NGLY1 PHKG2 CCDC39 PSTPIP1 NRAS GLRX5 ZAP70 MKS1 PRKCZ DOLK PARN SHH MPL TMEM67 PEX5 RSPRY1 ZNF699 TSC2 THPO RFWD3 DLEC1 MEG3 GPC3 RARB ARSB JAK2 IKZF3 AK2 BRCA1 GLIS3 PIK3CA SLC7A7 COG4 GAS8 MEGF8 BTK B9D1 TGFB1 GUSB CDKN2A GBA GPD1 CDKN1B UROD PIK3C2A RRAS2 ERAP1 RNASEH2C LIPA WT1 ACD OTC POU6F2 TPI1 CFAP410 COG5 GNS HLA-DRB1 ABCD3 DNAH5 PML NFKB1 ATM CPOX SLC2A1 NFKB2 COMT GYPC SOCS1 EPB41 IL23R RSPH4A NEU1 CD247 FAH DNAH9 JAK3 FUCA1 F5 IL1RN CALR HLA-DPB1 TCIRG1 TTC7A TTC12 HRAS ITCH TRIP13 B9D2 RRAS LIG4 MGMT ANK1 LYST USB1 CCDC65 FGFR1 FOXE1 PSMB9 CA2 CCDC115 POLR1B CD27 IDUA RAG2 PLEKHM1 OSTM1 EIF2AK4 DGUOK HIRA LPIN2 PKLR MIF GLI2 PSMB8 AICDA PTPN2 TBX1 CC2D2A NPHP3 TP53 TMEM216 FGFR2 IL10 CCND1 BAP1 HSPG2 RAC2 DHCR24 DZIP1L PSAP ODAD3 CLCN7 SMPD1 HAVCR2 DISP1 SMAD4 IL6 DNAAF3 CTLA4 KCNN3 PRKAR1A SPTA1 RUNX1 POLR1C CDKN2C CDKN1A TBXAS1 CLDN1 KCNN4 NEK9 POMP APOE DNAI1 RAB27A BCL10 G6PC3 PDPN CXCR4 STIM1 IL2RA ASXL1 CEP290 NDUFS4 FGG RORC GPC4 ATRX VPS45 NLRP3 MYD88 STRA6 RIT1 LCAT UBAC2 ODAD2 SLCO2A1 STAT2 BCL6 ESCO2 KIT RAF1 CCDC32 ATP6AP1 SLC25A13 ICOS TCTN3 PIEZO1 CD81 PRF1 SOX18 OCLN AKR1D1 PTPRC HEXB C4A IDS ZIC3 STAT4 UNG ZIC2 PTEN HBG1 TCOF1 CCNO TNFSF11 DRC1 GATA1 RARA CD19 CD70 NCF2 ALDOA SIX3 PEPD TLR4 RBCK1 RELN SPEF2 ATP8B1 CAV1 TSC1 STING1 IL2RB FARSA EPG5 DCLRE1C SCYL1 PNP UMPS MVK TNFRSF1A IFNG TFAP2A CFTR CDC42 LUZP1 ATP7B GNE AP3B1 ALG1 FASLG ACVR2B PIGM RSPH1 NCF4 AIRE SLC4A1 TTC37 SF3B1 PSMB4 SPTB ITK ALG9 GBE1 HBA2 NME8 XK SCARB2 IL7R CASP8 NUMA1 RBM8A ODAD4 SP110 COG7 TMEM237 TMEM107 DNAH1 NCF1 RASGRP1 NODAL RIPK1 GCLC AP3D1 ABCG8 WAS LPL MCM10 FLT4 COX10 FGB ELANE LETM1 CASP10 CCBE1 CR2 DNAAF1 PHYH BMP2 PSMB10 BTNL2 HLA-B SAMD9 SPAG1 EXOC2 NCKAP1L RNF6 ORAI1 SPP1 APOC2 DNAL1 LACC1 HYLS1 HK1 GAS2L2 SKIV2L HBG2 GNPTAB PEX7 DNAAF6 TNFSF12 RHAG IL12A WIPF1 VPS33A UFD1 MRAS STX11 ABCB11 SNX10 LZTR1 WRAP53 UROS BCL2 REST CCDC40 FGF8 SGSH GP1BB B2M HJV BPGM ADA PLXND1 BLM OFD1 MMUT HABP2 RMRP FAM111A TREX1 STK36 HMGA2 GALK1 FCHO1 CFAP221 VANGL2 RTL1 TERT TGFBR2 TNFRSF11A MMP23B PKHD1 CCR1 MEFV ANTXR2 FIP1L1 HFE NHP2 PIK3R1 DNAJB13 TCTN1 CTNS MAN2B1 P4HA2 RPGRIP1L EWSR1 APOA1 HBA1 TRIM28 TP63 CDK4 SCNN1B SUMF1 LAT SOX10 ABCB4 ODAD1 MCM4 NOTCH1 RSPH3 CYBB ABCA1 CDIN1 COG1 RERE EPB42 NPC1 RINT1 DKC1 TERF2IP FOXF1 MITF ALMS1 DNAH11 FCGR2A CYP7B1 PALLD WDR1 FGFRL1 CPLX1 LBR COL18A1 MC1R TINF2 CASR GSN NPC2 SRSF2 ADAR RPGR PRKCD NEK8 TXNDC15 RNF168 TALDO1 SLC39A4 XIAP SEC24C PTPN11 GDF1 POLR1D BCR BRCA2 JMJD1C DNAAF2 MAGT1 BIRC3 IARS1 PHKA2 G6PD AKT2 SEC23B SLC29A3 NOTCH2 DNAAF4 INPP5E FOXP3 ZBTB16 ATP6V1B2 SLC30A10 CELSR1 IRAK1 NOD2 FMO3 CASK UBE4B STIL MINPP1 NEK10 SETBP1 RHD RPSA CYBA MALT1 NKX2-6 MNS1 NBEAL2 LRBA IDH2 NF1 MMP21 STAT5B RASA1 WNT3 ABL1 LEMD3 MS4A1 CD40 HPGD CTSK TRPV6 XRCC4 ARVCF MYC CTC1 AGA KCNH1 SH3BP2 NSMCE3 RREB1 ERCC6 COG2 ERBB3 LRRC56 PALB2 TMEM231 MYCN SCNN1G IDH1 UNC13D INPPL1 KLRC4 TERC NSD2 MPEG1 ISG15 HGSNAT ALG14 GLB1 LYZ OTULIN NLRP12 STXBP2 NABP1 TRNT1 IRF8 DNASE1L3 GALE GPR35 NLRP1 SNX14 CSPP1 NAGLU VPS13A SYK TNFRSF13C PDGFRA PTH1R CHD7 ALPK1 TCF4 CYBC1 TWIST1 ANKRD55 POT1 NLRC4 TNFRSF1B NOP10 TBL1XR1 RNASEH2B ADAMTS3 MPIG6B ARPC1B IL12A-AS1 ADA2 MPI CD3E COG6 CD28 SEMA4D MTHFR GPI NPM1 GINS1 EPHB4 CD40LG IRF2BP2 DNAAF11 CFAP298 HYDIN CDAN1 CTBP1 ASAH1 BTD SAMD9L SEMA3E SH2D1A KIF3B PIK3CD SLC17A5 WDR35 DAXX MCIDAS DYNC2LI1 RPGRIP1 TRAC RABL3 COX4I2 KCNAB2 IFT172 CFAP300 JAK1 IL12RB1 HSD3B7 FOXJ1 FERMT3 CARD11 CAVIN1 ZMYND10 GATA2 KPTN STAT1 BSCL2 GPIHBP1 SKI PEX2 FRAS1 HSD17B4 DNAI2 GP1BA CDON ALAS2 HAMP PNPLA2 RTEL1 CASZ1 RSPH9 PRDM16 TNFRSF4 MST1 SCNN1A ACP5 CCDC103 YARS1 H19 MOGS SDHD FOXP1 AGPAT2 DNAAF5 MEN1 RASA2 DIS3L2 CFC1 TCTN2 CD3D PSMG2 WWOX GABRD DLK1 HP_LYMPHANGIOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LYMPHANGIOMA PTEN COL18A1 AKT1 ADAMTS3 IDH2 FAT4 PTH1R IDH1 CCBE1 HP_ABNORMALITY_OF_THE_TONSILS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_TONSILS TBX1 SEC24C BTK IDUA ARVCF COMT ADA CYBC1 RIPK1 ABCA1 BLM IL2RG JMJD1C SCNN1G UFD1 SCNN1B IDS RSPRY1 RREB1 SCNN1A AKT2 ELANE HIRA CD40LG MPEG1 DCLRE1C GP1BB IL2RA HP_ABNORMAL_LYMPHATIC_VESSEL_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LYMPHATIC_VESSEL_MORPHOLOGY TSC1 HRAS TSC2 FLT4 SOX18 RASA1 PIEZO1 FAT4 CCBE1 FOXF1 CELSR1 ADAMTS3 IFNG MPI HP_ABNORMAL_PLACENTA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_PLACENTA_MORPHOLOGY MEG3 MUSK HMGA2 RTL1 TP53 HYMAI PHGDH CORIN MKS1 HELLPAR FLT1 LMNA CDKN1C PLAG1 CHEK2 DLK1 TTC37 FGFR3 STOX1 CFI STK11 CDKN2A FANCF ZMPSTE24 PLAGL1 MDM2 IGF1 KIT IGF2 GLB1 CFH BCL10 HSPG2 CD46 SPTBN1 HP_CHORIOCARCINOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHORIOCARCINOMA CDKN2A CHEK2 TP53 FGFR3 MDM2 STK11 BCL10 KIT HP_SYNOVITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SYNOVITIS PTPN2 F8 PTPN22 MAP2K1 BRAF POLR3A IL2RB PTPN11 IL2RA LPIN2 ANKRD55 NOD2 CD247 STAT4 HP_HYPEROSTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPEROSTOSIS SOST HNRNPA1 GJB6 LRP5 PTDSS1 THOC2 AKT1 LEMD3 PTEN FLNA ALMS1 GJA1 WIPF1 ABCC9 ERCC5 WAS ANKH GNAS ERCC3 AMER1 NOTCH3 TNFSF11 XPA SMAD4 TCIRG1 LRP4 COL1A1 COX4I2 PIK3CA TNFRSF11A GALNT3 MAN2B1 TNFRSF11B ERCC4 ERCC2 KRAS GNAQ XPC PRKAR1A VCP IDUA TBXAS1 PHEX SLC39A14 CA2 DDB2 SLCO2A1 B3GALT6 RPS6KA3 MAP2K1 SLC29A3 TGFB1 HNRNPA2B1 FGFR1 HP_RECURRENT_PHARYNGITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_PHARYNGITIS SLC29A3 XIAP SH2D1A PTPN22 ALG12 P4HA2 NFKB2 HLA-B TNFRSF1A HLA-DRB1 HP_EXOSTOSES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXOSTOSES EXT2 ATP7A AKT1 TRPS1 IDH1 PTEN CHRNG RAD21 PTPN11 ACAN COL2A1 PHF21A COL11A2 EXT1 ALX4 IDH2 MSX2 SHOX HP_UROGENITAL_SINUS_ANOMALY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UROGENITAL_SINUS_ANOMALY SRD5A2 NR5A1 GATA4 CYP11A1 PPP1R12A MKKS DHX37 AR MAP3K1 NR0B1 SRY CHRM3 SOX9 WT1 VAMP7 DMRT3 ZFPM2 WWOX NR2F2 HP_CONJUNCTIVAL_HAMARTOMA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONJUNCTIVAL_HAMARTOMA PIK3CA AKT1 PTEN SDHC SDHB KLLN USF3 SDHD SEC23B KRT1 KRT10 HP_ABNORMAL_SACROILIAC_JOINT_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SACROILIAC_JOINT_MORPHOLOGY DMP1 HLA-B PHEX TWIST2 FGFR3 ENPP1 TNFRSF1A HP_BREAST_APLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BREAST_APLASIA KCTD1 DYRK1A LMNA ORC4 TP63 PLXND1 REV3L ORC6 ORC1 CDT1 CDC6 GMNN TBX3 TWIST2 IKBKG CDC45 HP_PERIPHERAL_ARTERIOVENOUS_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PERIPHERAL_ARTERIOVENOUS_FISTULA RASA1 AGGF1 COL3A1 EPHB4 ACVRL1 ENG GDF2 SMAD4 HP_INSOMNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INSOMNIA BAZ1B CPOX ATP8B1 GTF2I SATB1 DCTN1 CLCNKB HLA-DRB1 GTF2IRD1 NAGS HCRT CLIP2 PDE2A PRNP DNAJC6 ABHD11 SLC25A13 MEN1 VPS13C GALNT2 NR1H4 ABCB11 YY1 ELN SLC2A3 HLA-DQB1 HTRA2 FARS2 GTF2IRD2 EIF4H HMBS LAT2 STX1A NCF1 RFC2 FKBP6 PINK1 CLDN4 PRKN DNAJC30 HTT VPS37D CRY1 ZNF365 MLXIPL PODXL PARK7 BUD23 TMEM270 SNCA METTL27 BCL7B SLC12A3 TBL2 TUBB3 LIMK1 STUB1 CLDN3 LRRK2 ABCB4 UCHL1 SYNJ1 HP_HYPERSOMNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERSOMNIA PAX8 NKX2-5 DMPK FOXE1 GPR101 TDP2 NKX2-1 SLC26A4 TSHR PRNP DUOX2 AIP HP_PROSTATE_NEOPLASM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PROSTATE_NEOPLASM RAD51 RAD51D GREM1 RNF43 TP53 PALB2 RAD51C BRCA1 ZFHX3 CHEK2 MAD1L1 RNASEL NAB2 AR STAT6 EPHB2 NBN CDKN2A BARD1 AAGAB MDM2 MXI1 CDH1 PTEN BRCA2 APC BMPR1A MRE11 BRIP1 COL14A1 KLF6 RAD50 HP_HERNIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HERNIA WNT4 ATP7A C1R COL1A1 RTL1 GTF2I KIAA0586 HDAC8 SIX3 SATB2 DIS3L2 TENT5A LFNG KCNJ8 SH3PXD2B FBN1 VANGL2 FGFR1 BMPER FREM1 MAMLD1 RAB23 HOXD13 GORAB TNRC6B ALG9 H19 DNAJC21 MCTP2 MBTPS2 SMAD4 COL1A2 SH2B1 GLRA1 RPS6KA3 TNXB SMCHD1 ZIC2 TGFB2 NAA10 TP63 ARF1 GALNS MAN2B1 DACT1 SMAD3 RPGRIP1L AGA PYCR1 ZNF469 FLNB CDKN1C SIN3A FREM2 EFNB1 TSHB GPHN ELN COX7B POU1F1 EZH2 PLAGL1 KCNA1 NXN PIGP TBL2 GPC4 SHANK3 RFWD3 NOTCH1 ALDH18A1 HEY2 DYNC2H1 ERCC4 CHST14 STRA6 MYLK CWC27 TMEM70 SLC6A5 WDR4 GRIP1 TRAIP PIGN COL11A1 TUBB GUSB CTBP1 NOTCH3 MKS1 CDKL5 PLAG1 TMTC3 CASK HSPG2 PORCN IGF2 SHH NALCN NFIX COLEC10 DVL1 LHX3 WDR19 NDUFA8 AMH DNMT3B ZNF699 CTCF ROR2 MEG3 GPC3 ADNP RARB PLD1 MED12 ARSB DVL3 EHMT1 ERCC2 MTOR GLIS3 SIK1 SOX6 LBR LMOD1 OSGEP ATP6V0A2 NCF1 MEGF8 CREBBP HYMAI FLNA ATRX HCCS SMARCC2 COL3A1 DNAJC30 TMEM67 GATA6 KIF7 DPH1 NEDD4L DISP1 MSX1 SETBP1 AEBP1 YWHAE BCR ATP6V1A COL5A2 FKBP14 TP53RK ZFPM2 FGF8 CD96 ANTXR1 BCL7B ZFP57 OCRL GTF2H5 HIC1 TASP1 C1S RAD21 MYH11 SEC24C DMXL2 PAX8 ARID2 SPECC1L IYD B3GAT3 GDF1 COMT TRIM8 GMNN COL5A1 SLC5A5 NEU1 JMJD1C SLC2A10 BRCA2 MPLKIP PTCH1 TSHR WDR35 FUCA1 GDF11 SRCAP CPLX1 TRAF7 SHOC2 ADAMTS2 SLC29A3 ARID1B NOTCH2 NIPBL KMT2D NSDHL EIF4H TTC7A STAG2 INPP5E PNKP RIN2 NUP107 HMGA2 GLI3 PBX1 SEC31A ABCC9 ATAD1 FANCA SHPK AP1S2 SMARCA2 TOR1A RNF13 PPP2R1A DLK1 FBLN5 ACTA2 SETD2 MYH3 IDUA STIL BRD4 TARS1 BUD23 CCDC22 ARFGEF2 UBA1 PLOD1 HIRA PIK3CD GLI2 PIEZO2 CLDN3 RPS26 TBX1 PIK3R1 PTDSS1 CC2D2A ABCD4 ACTG2 ODC1 FANCB LRP2 RPL10 WT1 KCNQ1 BCL11B TBX3 SLC26A2 POLR3GL GTF2E2 XRCC4 TCF4 NUP133 KDM5B AUTS2 PUF60 CEP120 SKI ADAT3 ATP6V1E1 P3H1 FANCF KDM6A BRAT1 CHRNG ARVCF LETM1 PLOD2 ISL1 B3GLCT KNSTRN FGD1 TPO PRDM5 NEK9 COL11A2 ERMARD RREB1 COL2A1 FZD2 TWIST2 WASHC5 BRCA1 TMEM270 NFIA MN1 AMHR2 MMP2 STXBP1 SOX11 NR2F2 KMT2C RAD51C NSD2 GAD1 LONP1 WDR73 RPS28 NLRP3 CDH11 PIK3CA GTF2IRD1 RIPPLY2 PCNA SLC25A24 FOXE3 HELLS NPHP3 GATA4 IRF6 CLDN19 ESS2 SERPINH1 FBXW11 FOXF1 PIGQ KCNQ1OT1 HGSNAT IDS POLR2A PPP2CA DYNC2I1 BCOR MESP2 ZIC3 TGFB3 SLX4 ABL1 LHX4 CHST3 SCN1B NELFA GLB1 IFT80 NDUFB11 WNT5A LDHD RAC1 APC2 ADAMTSL2 DYNC2I2 NKX2-5 TPRKB ABCC8 MASP1 DPF2 ARX FTO EED RNF113A TMCO1 EFEMP2 METTL27 CBS DGCR8 GJA1 CHD7 CUL4B SMARCB1 RSPO2 FARSB CDC42 IRX5 GNAO1 XRCC2 PPP1R12A PROP1 DLL3 CDCA7 SALL1 HDAC4 COLEC11 LOX AMER1 SLC10A7 DUOX2 BHLHA9 PIGS ERCC3 HESX1 SUZ12 CTNND2 MED13L EN1 DSE TGDS IKBKG GNE FANCC RFC2 MFAP5 LAGE3 GLRB MTHFR UBE2T TTC37 CRKL RAD51 SMARCD1 ELOVL4 AR CHUK NECTIN1 SEMA5A MED25 DDX6 POGZ MAP1B SLC25A22 PIGG ARID1A MAD2L2 SOX4 KDELR2 TGFBR2 GNPTAB SLC35C1 SEMA3E CLIP2 SNIP1 SCN2A FANCE ABHD11 EOGT GPC6 ZBTB24 DGCR2 NSD1 KCNH1 NEUROD2 SMARCE1 BMP1 THRA ELMO2 FANCI CCBE1 LAT2 STX1A PAFAH1B1 RLIM DNMT3A TG HES7 SMARCA4 MLXIPL FANCL TGFBR1 DGCR6 SMC1A MAPK1 BSCL2 LIMK1 HYLS1 FRAS1 TRRAP MMP14 PIGY TMEM107 BAZ1B SKIV2L SMAD2 NDUFAF5 NAT8L RNF2 CLCN4 PRKG1 PACS1 VPS33A UFD1 TRIP11 KDM3B MAF FIBP RIPK4 DUOXA2 SMC3 MAT2A ZEB1 DHCR7 LTBP4 FLI1 GTF2IRD2 KCNJ11 GP1BB MEIS2 OFD1 FGFR2 DYRK1A FKBP6 AGPAT2 CLDN4 VPS37D BRF1 FANCG MECP2 PHGDH MAPRE2 PPP2R3C BRIP1 FANCD2 IFT81 FANCM PALB2 RIC1 HP_ACANTHOLYSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ACANTHOLYSIS JUP IKZF1 HLA-B DSG1 DSP KRT2 ATP2C1 ATP2A2 HP_ORCHITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORCHITIS ERAP1 FAS MEFV UBAC2 CCR1 IL10 KLRC4 HLA-B IL23R STAT4 TLR4 IL12A IL12A-AS1 C4A TNFRSF1A HP_TOENAIL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TOENAIL_DYSPLASIA VEGFC EOGT TBC1D24 BHLHA9 FLT4 GJC2 BMP2 TP63 TAF1 EVC SHANK3 ATP6V1B2 EVC2 LMX1B SOX18 HP_FINGERNAIL_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FINGERNAIL_DYSPLASIA TFAP2A GJA1 FZD2 KRT16 NXN ROR2 KRT17 TP63 LRP4 KRT6B DVL1 WNT5A DVL3 SOST LMX1B IL11RA KRT6A HP_NEOPLASM_OF_THE_MIDDLE_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_MIDDLE_EAR NKX2-1 SIX1 EYA1 SETD2 DDR2 SYK APC2 NSD1 HP_ABNORMALITY_OF_THE_PERIUNGUAL_REGION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PERIUNGUAL_REGION SLC39A4 TSC1 STING1 LAMB3 TSC2 STAT3 KRT16 RETREG1 KIF1A KRT17 KRT6B BLM LAMC2 WNK1 NFKB2 LAMA3 ADAM17 SCN9A KRT6A HP_SEPSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEPSIS ABCA3 LMOD1 EDNRB SDR9C7 SMARCD2 HLA-B NFKB2 CTLA4 IGLL1 ERBB3 WAS ERBB2 LAMB3 TFRC ALOXE3 CD79B ELANE RET NIPAL4 FOXP3 MYH11 ATP7A ALOX12B KRT5 SERAC1 GDNF DCLRE1C SEMA3D ALG1 FCGR3B MMUT NRTN SAMD9 IL7R IL2RG TGM1 SFTPB FERMT3 SULT2B1 CD27 SBDS ABCD1 SRP54 ECE1 NCF2 COX8A MYD88 CYBA CYBB EDN3 ACTG2 SEMA3C KRT14 BLNK RNF13 RAG1 MRTFA APC SMO RAC2 WIPF1 VPS33A GALM CTNNB1 NCF1 HYOU1 LRBA IGHM MNX1 LIPN LRRC8A CTCF CHD7 YARS1 AK2 LAMC2 RAG2 ALG12 COG4 CYBC1 SREBF1 DNAJC21 BTK ADA CYP4F22 TCF3 SFTPC NCF4 IKZF1 EFL1 PIK3R1 LAMA3 GALT CD79A LIG4 TREX1 RMRP CD40LG ABCA12 G6PC3 CXCR4 MYLK PGM3 PKP1 HP_LONG_FINGERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_FINGERS NSD2 RPL10 C1R ZMIZ1 CNOT3 B3GALT6 SATB2 ZNHIT3 IARS2 GNB2 NUP107 FBN1 PQBP1 COL12A1 POLR3A GATAD2B POR EBP KIF7 ABCC9 FOXE3 SPEN KMT2A TRIO GATA4 GPR101 INPPL1 EIF2S3 SLC2A10 OTUD6B NFIX EXOC6B PIGV ALG14 RPS6KA3 KDM1A TGFB2 TGFB3 SMARCAD1 TNNT3 TELO2 ABL1 SMAD3 NELFA MAP1B KANSL1 ZEB2 ZNF469 SCN9A FGFR3 SIN3A WASF1 AIP CDKL5 B4GALT7 ACSL4 XYLT2 EED DOCK3 TGFBR1 MAPK1 CBS TCF20 PEPD PIEZO2 HEY2 TRAPPC9 CHST14 MFAP5 GJB3 MYLK SLC25A46 FBXO11 PAX1 CDC42 IRX5 LMNB2 FIG4 GATA2 RNF13 CTBP1 MAP3K7 TWIST1 FARSA NSDHL SMS MAF MYMK SON TUBB SETD1B LOX CYP26B1 AMER1 COL1A2 BRF1 PIGN VAC14 UNC80 PHIP ECE1 PAPPA2 EHMT1 ELN COL2A1 DSE SMARCA2 SPOP SOX6 PLAA MED12L PTCH1 ZDHHC9 OSGEP HUWE1 MRPS22 PHF6 ATRX AMMECR1 TTN SUFU ACTG2 PUM1 SVBP TP53RK CTSC CNTN1 CCNK CRKL AEBP1 BCR BCORL1 MTM1 COL11A1 NR5A1 HDAC8 DDX6 PIGG PSMC3IP FBLN5 SMAD4 SPEG SEC24C RAB11B FSHR TGFBR2 UBE3B COMT PIGB FGFR2 MAPRE2 USP9X KMT2E JMJD1C GJB4 UPF3B SNIP1 FLNA MYH11 DYRK1A KCNE5 KDM5C SH2B1 PTCH2 PCGF2 CPLX1 POLR3H COL3A1 RUNX2 BMP1 ALG3 VPS13B GJA1 ASXL3 BNC1 TMEM94 DPAGT1 HERC1 KIF1A ACTA2 SMARCE1 RUSC2 LAS1L MED12 RETREG1 SMC1A NKAP ASXL1 PLOD1 HIRA MAGEL2 SLC39A13 SCARF2 PSMB8 HNRNPH2 SOX5 PYCR2 ADAMTSL1 MYOD1 YY1 PMM2 TBX1 PRDM5 SLC12A6 SMAD2 TCF4 ODC1 HIVEP2 NR2F1 NPR2 PRKG1 TBX4 ARX SIM1 FBN2 PHF8 NALCN UFD1 EBF3 RYR1 BIN1 MAT2A PTRH2 DPYSL5 PUF60 KATNB1 SPIDR STUB1 GP1BB ALG12 OFD1 BMP15 SKI CPT2 LARS1 TBR1 KIFBP CHRNG ARVCF LETM1 CRLF1 CHD4 COPB1 NARS1 RREB1 DLG4 EFEMP2 DLX5 KDSR LAGE3 PHF21A WNK1 KMT2C CNOT1 HP_APLASIA_HYPOPLASIA_OF_THE_COLON http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_COLON LMOD1 SOX10 MYH11 ACTG2 GATA6 LMNA GUCY2C MYLK ZMPSTE24 HP_HALITOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HALITOSIS SCNN1G CFTR SCNN1A SCNN1B SELENBP1 MAT1A HP_BLUE_NEVUS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BLUE_NEVUS TYRP1 ARL6IP6 TASP1 PRKAR1A PUS3 HP_RENOVASCULAR_HYPERTENSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RENOVASCULAR_HYPERTENSION XYLT1 NF1 BAZ1B LAT2 STX1A NCF1 GTF2I FIG4 RFC2 FKBP6 ABCC6 XYLT2 GTF2IRD1 COL3A1 CLDN4 DNAJC30 VPS37D CLIP2 MLXIPL ABHD11 BUD23 VAC14 TMEM270 ELN METTL27 BCL7B TBL2 STAT1 GTF2IRD2 LIMK1 CLDN3 EIF4H YY1AP1 HP_LONG_THORAX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_THORAX PCGF2 PRKACA TRPV4 PRKACB BCOR KAT6A INTU NAA10 HP_INTESTINAL_FISTULA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INTESTINAL_FISTULA KDM6A SPINT2 SALL4 POLR1C MKKS LONP1 TCOF1 POLR1D SALL1 FREM1 CCNQ KIF7 KMT2D B3GLCT POLR1B DDB1 UBR1 IL10RB DACT1 PIGN SYK TCTN3 MNX1 CDK8 TGFB1 RECQL4 JAK3 PKP1 HP_GLOMERULOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GLOMERULOPATHY MTRR GLA LMNA FAS PRTN3 HLA-DPB1 UBAC2 ELP1 AMMECR1 IL10 MT-TE HLA-DPA1 HLA-B IL23R HNF1B LMNB2 IL12A FN1 DNASE1L3 WIPF1 MT-TL1 LMX1B WAS KCNE5 FOXC2 SCARB2 ERAP1 MT-TK ACSL4 MMACHC MEFV CCR1 WT1 KLRC4 CTLA4 STAT4 OCRL TLR4 LPIN2 IL12A-AS1 APOE C4A PTPN22 HP_CHEILITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHEILITIS SREBF1 FERMT1 SLC39A4 KRT16 SLC46A1 CAST IL17RA AMN DSC3 TRAF3IP2 MBTPS2 KRT17 CUBN OCRL KRT6B PERP BLM IL17RC PKP1 IL17F CLEC7A KRT6A HP_LYMPHOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LYMPHOCYTOSIS PRKCD RNASEH2B CASP10 NRAS FAS ZAP70 BTNL2 XIAP EIF2AK3 LMNB2 NCKAP1L ARPC1B IL7R SH2D1A RASGRP1 FASLG KRAS CARD11 HLA-DRB1 HP_GALACTORRHEA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_GALACTORRHEA CDH23 CDKN1B GPR101 CDKN2C MEN1 PRLR AIP CDKN1A CDKN2B HP_ROUND_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ROUND_EAR TNNT3 ERF TPM2 MYH3 CEP57 NALCN TNNI2 PSMC3 HP_ABNORMALITY_OF_VITAMIN_K_METABOLISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_VITAMIN_K_METABOLISM SBDS SRP54 HLA-DQB1 MST1 DNAJC21 HLA-DQA1 PKHD1 TCF4 SEMA4D BAAT TJP2 GPR35 EFL1 DZIP1L HP_VITREOUS_FLOATERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VITREOUS_FLOATERS TSPAN12 CTNNB1 HLA-A ARL3 NDP ZNF408 LRP5 TTR FZD4 HP_NEOPLASM_OF_THE_SMALL_INTESTINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_SMALL_INTESTINE SDHB APC GREM1 SDHC MLH1 KIT AAGAB PDGFRA NTHL1 SDHA BMPR1A STK11 SMAD4 LMNA WRN MSH2 COL14A1 SDHD HP_NEOPLASM_OF_THE_LARGE_INTESTINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_LARGE_INTESTINE MLH1 SH3KBP1 SRC RPS28 APC AURKA RNF43 KEAP1 RPS15A BMPR1A BUB3 RPL27 CDKN2A BUB1B BRCA2 BUB1 ADA2 PTEN RPL18 AXIN2 TP53 SMAD4 KRAS DMPK POLD1 AAGAB RPL35 EPCAM AKT1 MUTYH RPL35A PMS2 FGFR3 RABL3 COL14A1 MSH6 TLR2 PIK3CA MSH2 GATA1 TGFBR2 PTPRJ KIT NTHL1 SDHA STK11 DOCK8 CCND1 RPL15 GPR35 ENG FOXE1 TSR2 RPS19 DLC1 MLH3 MCC RPS7 MSH3 NRAS MINPP1 SDHD CTNNB1 EP300 RPS27 PDGFRL BRAF KLLN RPL11 GREM1 SDHC PMS1 SDHB PDGFRA TCF4 SMAD7 CHEK2 BAX FLCN SEMA4A RPS20 SEC23B RPL5 CEP57 RPL31 MST1 DICER1 PTPN12 FAN1 PALLD BRCA1 POLE RPS29 DCC RPS10 RPS26 RAD54B PRKAR1A RPL26 SEMA4D BLM TRIP13 PLA2G2A MDM2 USF3 HABP2 RPS17 RPS24 PALB2 HP_BENIGN_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BENIGN_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM SDHD BMPR1A NF1 MLH1 ALX3 PIK3CA SMARCE1 VHL WRN PTEN LMNA VPS16 BAP1 FAT4 CDKN2B KRAS NF2 CDKN1B SMARCB1 TCTN3 NTHL1 SUFU WDPCP MSH6 AKT1 GLI3 TGFBR2 ALX1 TMEM216 CREBBP PMS2 TMEM127 SDHB TSC2 MLH3 KIF1B RET EPCAM MSH2 MN1 SMO PDCD10 OFD1 EP300 TP53 KLLN SIX6 PDGFB KIF7 SDHC NRAS TERT GCDH CCBE1 SEMA4A PMS1 TSC1 SEC23B CPLANE1 NOTCH3 RPS20 DLST CCND1 PDE6D ZSWIM6 CCM2 FAN1 ADAMTS3 IFNG TRAF7 SDHA MAX FH CDKN2C ARMC5 MEN1 CDKN1A FAM149B1 SOX2 PDGFRB KRIT1 SLC25A11 CHEK2 KIAA0753 SDHAF2 USF3 FGFR1 OCRL GNAS MDH2 HP_MALIGNANT_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MALIGNANT_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM PALB2 APC POT1 DICER1 NF1 KEAP1 GPC4 BMPR1A MLH1 BRCA2 SUFU SPEN PTCH1 CDKN2B KRAS NF2 CDKN1B MMP23B RAF1 NSD1 PMS2 MSH6 SDHB RUNX1 MSH2 RET PIK3CA NBN TGFBR2 KCNAB2 IDH1 CTNNB1 TP53 CDKN2A TSC2 SETD2 UBE4B APC2 MLH3 NUTM1 MSH3 EPCAM SMO EDN3 PHOX2B SKI PTPN11 PTCH2 KIF1B BDNF TUBB RERE PRKCZ HSPG2 CHEK2 BRAF SEMA4A PMS1 TSC1 CASZ1 RPS20 BRD4 PRDM16 ASCL1 RELA GPC3 FAN1 IFNG GDNF SMARCB1 LUZP1 ERBB2 ZFTA YY1 CDKN2C ASXL1 MEN1 CDKN1A MYO1H SETBP1 MAPRE2 IDH2 MDM2 LRP5 GABRD PDPN HP_RECURRENT_CUTANEOUS_ABSCESS_FORMATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_CUTANEOUS_ABSCESS_FORMATION PSENEN PSEN1 CARMIL2 LCP2 BTK CTSC UBE2A HP_APLASIA_HYPOPLASIA_OF_THE_EYEBROW http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_HYPOPLASIA_OF_THE_EYEBROW GAD1 SMARCA2 GJB6 TRPS1 DLX4 RPS28 EPS8L3 WNT10A ITGB6 KRAS POLR3A LMNA SDR9C7 KMT2D SPINK5 HNRNPK MAN1B1 TBX3 ALOXE3 DSG4 SF3B4 DNAJC21 SOX18 MBTPS2 CRIPT DOLK LPAR6 KDM1A KAT5 DCLRE1C BRAF NAA10 BANF1 STAG2 ALX1 TP63 KREMEN1 ATAD3A LRP1 GJB2 TGM1 STAG1 NECTIN1 LSS RPL21 B4GALT7 NUP188 DCAF17 EDARADD CHST3 MAP2K2 MEIS2 CWC27 KRT71 WDR26 EDAR IL7R CDC42 IRX5 HECW2 LARP7 FIG4 RAG1 ATP1A2 EDA HDAC4 UBE3B SMS SON TMCO1 KANK2 NFIB CDH3 BRF1 PPP1CB VAC14 CHD7 ZMPSTE24 AHSG PQBP1 RAG2 TWIST2 SPOP APCDD1 MED12L YY1 KDM4B WDR35 PEX6 SNRPE HBA2 COL3A1 EBP ATP1A3 DPH1 CCNK HRURF DSP ANTXR1 NF1 PRRX1 HR MED25 GTPBP2 JUP RECQL4 PURA ANAPC1 SHOC2 ITGA3 AXIN2 GJA1 RMRP CDC45 KRT17 MEGF8 NECTIN4 KDM6A NIPAL4 ALOX12B HEPHL1 AEBP1 KIFBP LIPH SOS1 NSUN2 ASXL3 HERC1 SULT2B1 TBCD EDNRA KAT6A RIPK4 IL2RG KRT74 AASS KRT25 PIGK PEX1 MTX2 BCL11B FRAS1 ODC1 WNT10B ST14 MESD SOS2 COG6 OTX2 RIN2 GNPTAB KRT85 ALX4 LIG4 RNU4ATAC MAP2K1 HBA1 LIPN SIAH1 COL11A1 UROS FLI1 SLC1A3 CACNA1A ADA CYP4F22 CLDN1 PCNT LZTR1 EDA2R TTC7A PPP2R3C DSC3 ABCA12 RAF1 HP_SEPTO_OPTIC_DYSPLASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SEPTO_OPTIC_DYSPLASIA CDON OTX2 WDR11 SOX3 LHX4 FGFR1 PROKR2 PROP1 HESX1 WNT3 RSPO2 ARNT2 FOXA2 POU1F1 SOX2 STAG2 GPR161 GLI2 ROBO1 HP_ANAPHYLACTIC_SHOCK http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ANAPHYLACTIC_SHOCK TET2 CBL RUNX1 SRSF2 ASXL1 HP_NEOPLASM_OF_THE_MALE_EXTERNAL_GENITALIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_THE_MALE_EXTERNAL_GENITALIA GATA4 AKT1 KEAP1 MRAP PRKAR1A EWSR1 STS KANSL1 TP53 MAP3K1 FLI1 NR0B1 CHEK2 CDKN1B IGF2 DHX37 PTEN CDKN2A CDC73 SOX9 WT1 MC2R DICER1 MDM2 STAR SRY NR5A1 VAMP7 DMRT3 CYP11B1 AR NNT ZFPM2 WWOX STK11 TXNRD2 HP_ABNORMAL_EMOTION_AFFECT_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_EMOTION_AFFECT_BEHAVIOR SARDH PSEN1 PCDH19 NTRK1 PPARGC1A HERC2 TAF15 PUS7 EIF2S3 VPS16 NDE1 SASS6 TMEM106B MIR17HG SLC9A6 HEXA KANSL1 GNAS NDP SLC6A8 TP53 RERE DLL1 TDGF1 TK2 KMT2C PPP2R5D HLA-DQB1 NBEA KAT5 KDM5B PIK3CA FAS SPEN VCP ATXN10 PUS3 STX16 SIX3 ZEB2 NEXMIF SIN3A MATR3 IFIH1 ZSWIM6 SAMHD1 TBK1 GABRG2 MSH2 FOXH1 KCNA1 SLC6A1 ANXA11 FGF8 BCS1L TUBB3 FIG4 TRPM3 IMPA1 HMGCL PTPRO SLC46A1 TBP ASL USP7 GLI2 PRKCZ CDKL5 CYP27B1 SLC19A3 MANBA MAGI2 FBP1 SEMA4A SUCLG1 NDN CACNB4 PAK3 ALDH5A1 PHIP EHMT1 TACO1 CABP4 SIK1 CHMP2B UBQLN2 EEF1A2 COG4 AP1S2 CUX1 FDFT1 TGIF1 KIF15 GCH1 ERAP1 INF2 SNRPN CLCNKA UBE2A PTCH1 PLA2G6 DISP1 SCN1A FTSJ1 CEP85L DMXL2 ARID2 SLC25A20 NTNG2 SHH SLC6A3 MBD5 UBE3A IL23R ECM1 HLCS DCHS1 NPHS1 KDM5C DMPK EPB41L1 DEAF1 PET100 SLC25A1 ARID1B MAGEL2 NODAL HEPHL1 ABCA12 SPR TREM2 NDUFA12 KCNQ3 PACS1 UNC13A NDUFS2 HPRT1 NDUFS3 GRIN2A FTL NONO HNRNPA1 CASR TAOK1 CILK1 WDR45 BPTF EFHC1 GRN SYNGAP1 NDUFA13 RAI1 ATG7 SNORD116-1 PSAP NHLRC1 HNRNPH2 HDC LRRK2 UCHL1 NUP205 PON2 ODC1 TIMM50 IL10 HSPG2 TCF4 CAMTA1 MYT1L C9orf72 PWRN1 NAA10 DPYSL5 PRRT2 SDHB KNL1 ERBB4 MAB21L1 SATB2 MKRN3 PWAR1 ADAT3 UBA5 SDHA ATP1A1 SPAST ELP2 PRKAR1A EXOC8 SLC6A19 PDPN ECHS1 SUCLA2 IQSEC2 SYNJ1 WT1 SIM1 NUP133 FUS ZMIZ1 KIF11 HIBCH MLH1 UBAC2 NAGS SLC13A5 MT-ATP6 KMT2A KCNT1 PRF1 ESS2 GRM7 TRIP12 PIGQ CLTC NFIX SCN11A RTTN CLCN4 TRIO C4A AQP2 ADSL INPP5E AKT1 PGK1 IBA57 TARDBP NSDHL BAP1 MECP2 VAPB EIF4G1 TKT CHD2 CACNA1A QDPR FGFR1 LINS1 GCSH NUP85 GM2A CTSF ANK3 MAPK1 TH TLR4 COQ2 MADD AUH WDR62 NOTCH3 CUL4B CHRNA2 TTC19 HECW2 FOXG1 SLC1A2 RORB ZBTB20 C19orf12 PAH CPS1 RPS20 NACC1 SLC39A4 DPAGT1 IQSEC1 SLITRK1 LUZP1 SETD1B TRAF7 ATP7B KDM4B OCA2 SLC25A19 DPYD DNAJC13 PYGL NDUFAF4 ATP1A3 PSMD12 NEK1 WAC ALDH7A1 PDHA1 JRK MAPT SLC25A22 ARID1A PDGFB RAB11B ENPP1 RNASEH2C STAG2 SH2B1 FMR1 KMT2E MAOA EBP SCN2A EPM2A POGZ DCTN1 SCN8A PDE11A OPHN1 RNASEH2A APOL1 DGCR2 NSD1 NEUROD2 SMARCE1 PTCHD1 SYT1 MSH6 GABRA1 NDUFAF6 ABCA2 WDR26 CRB2 CIC VDR EIF2B1 CREBBP HLA-B ATP13A2 GRIA4 PRKN NDUFA10 MTPAP UQCC2 CACNG2 NDUFV2 ZIC2 DNMT3A NUP107 SMARCA4 SLC2A1 ARSA LAS1L DEPDC5 MED12 EPCAM SYN1 TRPC6 SOX5 FRRS1L NKAP WARS2 SNCA GLS SETD2 NDUFV1 PYCR2 PIGY CLTCL1 NAT8L B4GALNT1 GNAO1 IL12A ALG14 TBC1D23 ALG9 NALCN PMS1 ATXN1 DNAJC6 PRNP GLT8D1 ASPA TMEM237 METTL5 RBBP8 CLTRN RPL10 DYRK1A ATRX MED12L DOCK8 PRPH ARHGAP24 PHGDH HBB TTI2 EIF2B3 NDUFAF2 STEEP1 DYNC1H1 ZMYND11 ALPL TREX1 FAT4 NDUFS1 SURF1 CNTNAP2 MYO1E GNA11 MAN1B1 GALC SPOP MMP23B SQSTM1 LINGO1 CCR1 SPG11 UROC1 HIVEP2 SPTBN1 HFE TGFBR2 DARS1 PMS2 ZFYVE26 CDH15 WASF1 OCRL MGAT2 MLH3 SLC16A2 DDX3X PRODH GBA CSNK2B PIGP SHANK3 EP300 GIGYF2 STXBP1 LARP7 ANG ATP1A2 AIP CARS1 GABBR2 CASK SMARCC2 TSC1 NDST1 TSC2 TBC1D8B VPS13C CLCNKB UNC80 ADNP STAT4 LIPT1 PLPBP PDCD1 CLP1 ASXL1 DNM1 UBTF CDH2 SRCAP NDUFS8 HDAC4 VPS13A ENTPD1 ADAR TASP1 SETD1A ARHGDIA RNF168 AVPR2 DYNC1I2 USP9X CYP2R1 DNMT1 TRIM8 YIF1B ACTN4 PDE2A SDHAF1 TMEM240 CRH GRIA2 BRSK2 PIGH NIPBL BSND CAMK2B GYS2 GRIA3 PNKP CD2AP PRKAR1B NPHS2 CDON SMPD1 COX15 PINK1 TCN2 RNF13 ST3GAL3 DHCR7 TSPOAP1 UBE4B KIRREL3 RUSC2 KIF5C ASH1L RAB11A FRMPD4 CTNNB1 NDUFS7 SMO DCX PPT1 PFN1 ABCC6 CLN5 KIF1A GRIN2B SLC25A13 PON3 PUF60 SLC2A3 GRIN1 FAN1 OPTN VPS35 PANK2 SLC1A3 FGF14 FOXRED1 SLC52A2 BCAP31 NFASC ATP10A AFF2 ANKFY1 RPS6KA3 NDUFAF5 COQ8B LEPR SOX11 CAMK2A CHRNB2 SDHD CUX2 SMARCA2 THOC2 JPH3 CHRNA4 BMPR1A HTT BCOR NUP37 CHCHD10 TYROBP SLC6A17 KRAS FLII CFAP410 MEFV KLRC4 FBXW11 KCNQ5 ASS1 NUP160 PTS ACOX1 SCN1B ANLN TBX1 ARG1 ABCC8 APC2 PODXL NAGLU SPART COL4A3 GAS1 NDUFA2 DPF2 EIF2B5 GATAD2B SHMT2 GLDC TCF20 MAPK10 DGCR8 MTFMT FMO3 PAX2 SMARCB1 NHLRC2 USP8 PON1 OTC GABRD ITPA TMCO1 AVP GAPVD1 VAMP2 PIGF NFIB RNASEH2B GLE1 ALAD GAMT HTRA2 ALDH4A1 IL12A-AS1 MED13L HDAC8 EIF2B2 SVBP PIGL SUFU SMARCD1 PARK7 TMEM231 CLN8 EMP2 MED25 CYP27A1 HLA-DRB1 PLCE1 SOX4 AMT ASAH1 AP2M1 SMC1A NAXD FUZ NUP93 AIFM1 SLC1A4 CHAMP1 ELP1 ATXN2 CNP NDUFA9 KCNAB2 GJB2 RLIM ASXL3 GLRX5 NF2 PRKACA SARS1 DGCR6 AGO2 KPTN CCNF FOXP1 STUB1 SKI PCBD1 CEP152 NDUFA4 GABRB3 TERT ST3GAL5 SLC6A4 ARX HSD17B10 SOD1 KDM3B ATP5F1A HTR2A CASZ1 PRDM16 C12orf4 CLCN2 VPS53 SET EIF2B4 EPHA4 POLG DAO NEFH SRPX2 NPAP1 NDUFS4 SPATA5 PPP3CA SEPSECS ACAT1 SMG8 DDC CP SNORD115-1 SPG21 HP_ABNORMAL_FEAR_ANXIETY_RELATED_BEHAVIOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_FEAR_ANXIETY_RELATED_BEHAVIOR GNRH1 SDHD KMT2E CCDC32 GTF2I HDAC8 PPARGC1A CIZ1 SCN9A TAF15 GRIN2A GNA11 PTCH1 MT-ND6 SLC45A1 ADGRV1 VHL SCN1A ACSL4 MIR17HG MAPT MAMLD1 KANSL1 KISS1 CHMP2B GNAS NDP GPR101 TP53 DDB1 ASH1L DLL1 TDGF1 FGF8 WDFY3 HMBS SPTBN1 USH2A PIK3CA TGFBR2 MSTO1 MT-TS2 MAN2B1 STXBP1 PMS2 STX16 SIX3 GABRG2 NEXMIF SDHB MATR3 TBK1 AIP GRIA4 CEP78 MLH3 WDR11 POLG2 PPM1D MSH2 FOXH1 ACTL6B ANXA11 KCNMA1 TBL2 SGCE VCP EP300 PINK1 SDHC HUWE1 LARP7 ANG BPTF GLI2 CDKL5 TACR3 ZIC2 PTPN23 SEMA4A TSC1 HSPG2 UBR7 TSC2 PDZD7 FMR1 CACNA1H PRRT2 VPS13C PPP1CB PAK3 ALDH5A1 ADNP PHIP CABP4 PQBP1 PROK2 UBQLN2 MED12L MAX NCF1 FGF17 RAI1 FA2H TMEM106B HPDL TGIF1 C9orf72 DNAJC30 PPOX DNMT3A DPH1 BCORL1 CDH2 RRM2B KDM4B SRCAP MT-TW TREX1 PSMD12 VPS13A BCL7B OCRL AGO2 WFS1 SETD1A TOR1A DISP1 FTSJ1 RAD21 MDH2 JARID2 SEC24C YWHAG TBX1 CPOX HLA-DQB1 SHH SLC35C1 SCN2A COMT NR3C1 PPP2R2B ZMIZ1 JMJD1C SQSTM1 PURA TLK2 DYRK1A WASF1 DMPK CRH YY1 ELN NODAL EIF4H KCTD17 SPRY4 DRD2 PDE10A TREM2 UNC13A PRKAR1B CDON SVBP HNRNPA1 CASR TANC2 PRNP SETD2 MED27 FGFR1 KIF1B BRD4 BUD23 CNOT3 HIRA TCF20 CLDN3 HNRNPH2 NSMF SOX5 LRRK2 CREBBP UCHL1 PFN1 FIG4 PON2 KAT8 IGF1R CLN5 HIVEP2 SLC7A6OS EHMT1 MECP2 PON3 SLC2A3 FAN1 OPTN ERBB4 SETD5 PSEN1 DUSP6 DOCK3 MT-TF RET EPAS1 JRK FH WAC MT-TQ ARVCF ADCY5 NFASC SLC25A11 PRKAR1A SDHAF2 RREB1 CDH23 TRMT1 TMEM270 TRAPPC4 SLC6A19 SATB1 TAC3 FBXW11 PAH PHF21A CLRN1 SATB2 NF1 MADD CHRNB2 SYNJ1 MYT1L THOC2 JPH3 CHRNA4 BMPR1A MT-TS1 MLH1 GTF2IRD1 DEAF1 NAGS HS6ST1 KRAS GABBR2 KMT2A NTNG1 MEN1 FLII CFAP410 KCNT1 GCH1 CLCN4 PROKR2 STX1B TARDBP VAPB STAG2 SLC12A2 KPTN TMEM127 RIMS2 MYO7A APC2 GABRD PODXL GRN EMC10 GAS1 ARID2 METTL27 NIPBL MAPK1 COQ2 MT-TH FMO3 NOTCH3 CHRNA2 TTC19 GLA CHD7 USP8 HS2ST1 PON1 ZBTB20 PUS7 TMCO1 SETD1B USH1C GABRB3 MT-CO1 CACNA1A RPS20 NFIB NFIX DLST SLC2A1 GLE1 ALAD HTRA2 ALDH4A1 NONO RLIM MMP1 ACTL6A RFC2 MAPK8IP3 GABRA1 PDGFRB FUS NKX2-1 TAF1 GALT FOXP1 PARK7 ARSG TET3 AR SLC25A4 NEK1 XK MT-ND4 WHRN PDGFB PALS1 MT-TL1 SMC1A CLIP2 POLG PCDH19 SCN1B FUZ ABHD11 ESPN PDE11A NSD1 GNRHR ATXN2 UQCRC1 PCDH15 CLN3 MSH6 MT-CO2 CHCHD10 LAT2 STX1A TRIP12 PRKN KISS1R MT-ND1 MLXIPL DEPDC5 ATP1A3 FLT4 EPCAM MT-ND5 SNCA CCNF HARS1 LIMK1 STUB1 IQSEC2 BCL11B BAZ1B DCTN1 DPYSL5 MT-CO3 ALG14 DDX6 SLC6A4 UFD1 PMS1 MED13 SOD1 DNAJC6 HTR2A SPART SNRPN SPECC1L SMC3 NTNG2 HCN1 GLT8D1 GTF2IRD2 GP1BB EPHA4 CLTRN SDHA DAO TWNK CIB2 HLA-DQA1 RNF125 FKBP6 NEFH CHD8 DLAT CLDN4 SRPX2 COL7A1 PRPH HTT VPS37D TNRC6B GM2A USH1G STEEP1 HP_APLASIA_OF_THE_MUSCULATURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_APLASIA_OF_THE_MUSCULATURE TBX5 CHRNG LMX1B CHRNA1 TRPV4 TBX3 PLXND1 REV3L CHRND MYMK HP_DUODENAL_STENOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DUODENAL_STENOSIS STRA6 FANCF XRCC2 FANCB FANCC SLX4 FANCA GATA1 UBE2T BRCA2 FANCG FANCE FANCL CDC45 RAD51 FOXF1 BRCA1 RARB BRIP1 FANCD2 RFWD3 TTC7A FANCM ERCC4 PALB2 FANCI MAD2L2 RAD51C HP_PALMAR_TELANGIECTASIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PALMAR_TELANGIECTASIA LBR GPR35 MST1 SOX18 TCF4 SEMA4D HP_ABNORMALITY_OF_THE_PALM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PALM ATR ATP7A RNU4ATAC SEPSECS C1R RTL1 PPCS HDAC8 LEMD3 DIS3L2 WNT10A KRAS SUFU HERC2 LMNA TNNI3 RSPO1 KRT6B HPGD PDHA1 VPS51 GJB6 HNRNPK TERT APC KANSL1 TPM2 GPR101 PEX10 PLN GJB3 TNNT2 MCTP2 COL17A1 SLURP1 PEX3 SMAD4 MRPS28 IVNS1ABP ZNF469 UBR7 GPX4 TMPO RPS6KA3 ANTXR2 KRT1 SMOC1 SPTBN1 BRAF NHP2 FKTN GJA1 FZD2 MAP1B TRPV3 SPECC1L ATP2A2 PRKAR1A NIPAL4 NEXMIF GJB2 SIN3A KCNK9 WDR37 NECTIN1 NOG AIP ANKRD1 COL11A2 NUP188 NDN AIFM1 ASXL2 CSGALNACT1 NXN GPC4 DYNC2H1 MBTPS2 MAP2K2 KLLN BHLHA9 ITGB4 SDHC OTUD5 MYH7 FIG4 COL11A1 CAST ENPP1 MYH6 PTEN PEX6 PARN PORCN KANK2 NALCN PEX5 ABCC9 DVL1 RSPRY1 DKC1 PSEN1 FGFR2 STXBP1 TGM5 VAC14 CTCF ROR2 MEG3 TNNC1 GPC3 TRIP11 ADNP MED12 FGFR3 TPM1 MTOR MYH3 SRD5A3 FGFRL1 LAMA4 EXT1 CPLX1 TGM1 LBR PTCH1 DPM1 TINF2 PUF60 ACTN2 DSP MYOD1 TSEN2 CHST14 DSG1 DPH1 TAT FBN1 CEP55 KRT10 BCR SNRPN COL7A1 PSENEN KCNJ2 SMARCA2 FGF9 CD96 AUTS2 ALOXE3 TRPS1 TASP1 RAD21 LTBP3 PTH1R TBL1XR1 SNAP29 KRT5 SIL1 CAMK2G RPS23 KRT14 RAB3GAP2 ARL3 MAPRE2 YY1AP1 GJB4 KDSR ORC1 RECQL4 LORICRIN KDM5C LAMA3 PTCH2 KRT17 WDR35 CHSY1 CDK10 PEX16 WDR81 SMARCAD1 MYPN UBR1 CARD14 NECTIN4 SHOC2 TBCE NIPBL UPF3B LMX1B HRAS CTSB VPS13B SASH1 ATP6V1B2 FHL1 KRT9 FGFR1 TP63 BRD4 CSTA ABCA12 SDHD RAI1 SETBP1 PLOD1 SNORD116-1 MAGEL2 DLK1 PKP1 ADAMTSL1 SGCD PIK3R1 PTDSS1 LAMC2 POMP TRAPPC11 SDR9C7 RPL10 PIEZO2 TBX4 CREBBP PLAA TCF4 FERMT1 MAP2K1 SDHA PWRN1 ADAMTS10 KRT2 B4GALT7 DPYSL5 KRT83 RBM10 CSRP3 ZNF462 IGF1R CTLA4 KATNB1 KCNN3 STAG1 MKRN3 TONSL TCAP PWAR1 ACTC1 COG6 RAPSN GLE1 ZNF292 TSEN15 CRYAB CTC1 KCNH1 RAF1 B3GLCT KLHL15 FGD1 MAP3K7 MYBPC3 POFUT1 NAA10 INPP5K LDB3 CEP57 LZTR1 EP300 G6PC3 TSEN34 SMS BAG3 THOC2 SMPD4 CERS3 DLX4 SLCO2A1 COG4 PEX1 BMPR1B SLC25A24 COX14 COL9A2 BCOR NUP88 SOX18 SLC2A10 TERC NSD2 AAGAB GDF5 CTSC ITCH PPP2CA DYNC2I1 ANKRD11 SMC3 EXTL3 TELO2 ATP6V0A2 IFT80 PLEC TXNRD2 PERP WNT5A GPR35 NLRP1 BMP4 KRT6C LAMB3 TAF1A NEXN VCL DYNC2I2 MT-TS1 MBD5 RBM20 TRPM4 EVC KLHL24 PEPD ARID1B PIGL CD4 PRDM16 XYLT1 CYP4F22 AQP5 CKAP2L CHD7 CUL4B PIK3CA PEX11B FLNA PEX14 CAP2 PEX26 HDAC4 ZC4H2 IHH UBE3B DYM PKDCC DOCK6 NOP10 PIGS KRT16 DPAGT1 SH3PXD2B TFAP2A KAT6B GATAD1 DSE TGDS HDAC6 YY1 KDM4B IFT122 AFF3 DPYD CD28 LONP1 TRIM37 TNFRSF1B SEMA4D PNPLA1 AAAS MSL3 NPM1 CRKL FOXP1 USF3 INPPL1 MED25 DSG2 IFT43 COL2A1 PEX13 JUP RAB11B ADAMTSL2 CTBP1 LIFR AMACR ALOX12B PEX12 NGLY1 SLC35C1 SLC18A3 MCOLN1 SEMA3E SNIP1 RHBDF2 RMRP SCUBE3 EHMT1 DES TCF12 DOK7 LETM1 WAC COL14A1 TAFAZZIN CCBE1 NUP107 PEX2 FHL2 MRAS PEX19 ASXL3 SCN5A SERPINB7 CIB1 BGN DOLK ASXL1 MAPK1 SERPINA12 EVC2 NBAS MTX2 MUSK SDHB DMD RIN2 PACS1 HAND2 GATA1 VPS33A DVL3 TRIO SEC23B RTEL1 POGLUT1 TNNT3 RIPK4 MST1 FLG IFT57 TNNI2 IGF1 WRAP53 PSEN2 AKT1 USB1 SMC1A ESCO2 OFD1 DDX11 KRT6A CRLF1 POR CDK19 NPAP1 CHST3 BRF1 PNPLA6 TWIST1 SLC39A13 TSEN54 PLOD3 TTN PPP2R3C DSC2 CFTR GMPPA SNORD115-1 RIT1 HP_ABNORMALITY_OF_THE_PLANTAR_SKIN_OF_FOOT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PLANTAR_SKIN_OF_FOOT GJB6 C1R CERS3 PPCS LEMD3 DSP KCNJ8 DSG1 WNT10A KRAS SUFU SLCO2A1 ATP2A2 PTEN TNNI3 RSPO1 KRT6B HPGD HNRNPK TERT GJB2 GPR101 PLN GJB3 SOX18 TNNT2 COL17A1 SLURP1 TERC IVNS1ABP ZNF469 AAGAB TMPO ABCA12 CTSC KRT1 BRAF NHP2 FKTN SMARCAD1 GJA1 ATP6V0A2 TRPV3 PLEC NIPAL4 TXNRD2 PERP NLRP1 KRT6C NECTIN1 TP63 AKT1 LAMB3 AIP TAF1A NEXN VCL ANKRD1 MT-TS1 FERMT1 B4GALT7 RBM20 TRPM4 KLHL24 PEPD CD4 PRDM16 CYP4F22 AQP5 MBTPS2 MAP2K2 KLLN PIK3CA ITGB4 SDHC MYH7 KRT14 GJB4 CAST CAP2 ENPP1 KRT5 MYH6 PARN KANK2 ABCC9 DKC1 PSEN1 NOP10 PIGN KRT16 TNNC1 TPM1 MTOR SRD5A3 GATAD1 LAMA4 TGM1 PTCH1 CD28 TINF2 POMP TNFRSF1B PNPLA1 ACTN2 AAAS PIGQ PIGL NPM1 COL7A1 TAT KDSR KRT10 USF3 FGFR2 KRT17 ALOXE3 DSG2 CYP27A1 LAMC2 JUP TBL1XR1 KRT9 RECQL4 SNAP29 ALOX12B MCOLN1 RHBDF2 LORICRIN LAMA3 PTCH2 MYPN DES CARD14 COL14A1 TAFAZZIN HRAS CTSB SASH1 FHL2 ATP6V1B2 MRAS SCN5A USB1 SERPINB7 SDHD DOLK ASXL1 PLOD1 SERPINA12 LMNA PKP1 SGCD MTX2 SDHB DMD TRAPPC11 SDR9C7 COG6 HAND2 KRT83 CREBBP PLAA SEC23B RTEL1 MAP2K1 SDHA KRT2 WRAP53 PSEN2 CSRP3 CTLA4 KCNN3 TCAP ACTC1 KRT6A CRYAB ERCC6 CTC1 KCNH1 RAF1 ANAPC1 MYBPC3 LZTR1 LDB3 TTN EP300 DSC2 CFTR GMPPA CSTA RIT1 BAG3 HP_THICK_HAIR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_THICK_HAIR ATP6V1E1 VPS13B ATP7A COG4 ATP6V1A KCNN3 SMC3 ATP6V0A2 NEK1 MSTO1 INSR ASXL1 CLDN1 AFF4 VPS33A HP_ENLARGED_OVARIES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ENLARGED_OVARIES PIK3CA PTEN SDHC AKT1 CYB5A SDHB CYP19A1 PRKAR1A INSR USF3 SDHD POR FSHR STK11 CYP17A1 KLLN SEC23B ESR1 HP_ABNORMALITY_OF_GLOBE_LOCATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_GLOBE_LOCATION RNU4ATAC CCDC32 NF1 PIGA COLEC10 ALX3 CCDC47 FAT4 FLI1 DPM1 VPS51 KANSL1 KISS1 NDP TCTN3 WDFY3 ERCC8 DCPS ANKH CBL SPEN MAP2K1 XYLT2 SIX3 KREMEN1 ZEB2 SIN3A ASPM SOS2 FLNB PIK3CA FAM111A COG4 NIN NXN FGF8 KCNMA1 SOS1 MAP2K2 CHST14 MYLK MIR140 SNRPN RAC3 HUWE1 PIGN FIG4 COL11A1 NRAS GATA2 KCNJ2 CDON GLI2 PRKCZ TACR3 PEX5 SALL4 KBTBD13 ARCN1 RSPRY1 PDHX VAC14 HNRNPU ZSWIM6 MEG3 MED12 STAT3 MAPK8IP3 ERCC2 EXT2 LMNA RPS29 MED13 RPS10 PTCH1 CREBBP HYMAI B9D1 ATRX SUFU RARS2 ZIC2 HNRNPK DPH1 ITGA8 UGDH SETBP1 B3GALT6 YWHAE ZIC1 RPS24 CHN1 NAA10 JARID2 TBL1XR1 BICRA RERE SNAP29 ALKBH8 PDE4D MAPRE2 ZMIZ1 SLC2A10 DCHS1 C12orf57 COG1 POR PGAP1 KDM5C PGAP2 FUCA1 SRCAP SH3BP2 KIAA1109 GSC SHOC2 NODAL TTC7A SPRY4 PACS1 KIFBP ITCH NEB NKX3-2 B9D2 CDH11 MED27 CRPPA FGFR1 FGFR2 FREM1 DNM1L COX8A RAI1 MKS1 FBN1 HIRA AFF4 PPP1CB HNRNPH2 ATN1 TBX1 PTDSS1 ATP6V1A TMEM216 FAR1 ODC1 PIEZO2 TBX4 SHH HSPG2 TBCD MYPN TCF4 EHMT1 SMG9 CC2D2A ZMPSTE24 NUP133 ADAMTS10 NKX2-5 DISP1 CASK SATB2 KCNN3 STAG1 PPP3CA QRICH1 ADAT3 ATP6V1E1 RAPSN CANT1 POLR1C CCND2 FGF10 SEC24D INTS8 TSHR EIF5A CEP57 FGFR3 SLC29A3 GLE1 SATB1 MN1 TGIF1 RAF1 PAX3 CEP290 RAD51C RPS28 SMPD4 MYD88 RIT1 RPL18 DNMT3B SLC25A24 ABCC9 ATP6AP1 TCIRG1 KCNQ1OT1 AKT1 TCOF1 BAP1 FGD1 SLX4 ATP6V0A2 TBCE ALX1 TBCK ERF MID1 ZFPM2 HPDL PRKAR1A IFT43 MASP1 EED TMEM67 RNF113A NFIX ACY1 ARID1B PIGL SEC23A TRAPPC9 CKAP2L RELN KIF7 PSMD12 MUSK PPP1R12A HS2ST1 PPP1R15B MAP3K7 WDPCP UBE3B PUS7 COLEC11 PTEN PDE6D SPECC1L SUZ12 TFAP2A POLR3A WDR19 TRAF7 RLIM TAFAZZIN ALG1 TRIM37 PIGW LAGE3 IGF2 UBE2T TTC37 B3GLCT HS6ST2 CRKL FOXP1 DICER1 CTNND1 FMR1 IFT122 BCORL1 FN1 PEX3 CPLANE1 INPPL1 DDX6 PIGG TGFB3 SCN1A TGFBR2 DHX37 PRTN3 TBC1D24 SMAD4 SLC35C1 PRUNE1 SLC18A3 KMT2E AP3D1 EBP ZBTB24 OPHN1 LETM1 COL3A1 GJA8 LARP7 MITF TRIP12 MOCS2 RPS19 DNMT3A FANCL TGFBR1 LAS1L EXOC2 SMC1A BPNT2 MAPK1 ALPL OFD1 ORAI1 FAM20C ERCC6 PYCR2 ALG6 PIGY RPL11 XYLT1 DPYSL5 OTX2 ATAD3A PRKG1 BMP2 ALG9 DDX59 LZTR1 GALNT2 RALGAPA1 TAPT1 GP1BB ESCO2 GNE SKI SMAD3 TCF3 PRKDC HRAS AP3B2 TWIST1 NARS1 PLOD3 TTI2 FANCD2 AP4S1 TRIP4 WDR35 ZMYND11 BGN ATXN3 GNRH1 LMNB1 HMGA2 BUB1B KCNH1 KRAS HLA-DPA1 INTS1 GJA1 SLC45A1 MEF2C EXOSC2 SPOP TNFRSF11A DDB1 COL1A1 DNAJC21 BPTF MCTP2 MED25 TGFB2 SPTBN1 TXNL4A BANF1 FZD2 CDH1 WASF1 FREM2 ADK PLAGL1 GPC4 RFWD3 PYCR1 MSX2 LRP4 FBXO11 OTUD5 PTPN23 SMS RPS20 MAFB ERGIC1 RET DVL3 RPGRIP1L PEPD CACNA1G SOX6 NKX2-6 LBR KIAA0586 CLP1 COL11A2 ZBTB18 DYRK1A PROKR2 CDH2 HDAC4 HELLS TP53RK SLC26A2 CHD7 ANTXR1 CDK5RAP2 AGO2 PTPN11 TXNDC15 CLCN6 POC1A RECQL4 SEC24C SLC9A7 RPL27 FOXH1 POLR1D PSAT1 ACTL6B ACTG1 SET AKT3 RUNX2 FLNA STAG2 SLC35A1 CDKN1C FANCA SHPK BRAF HERC1 LRRC8A DHCR7 UBE4B RUSC2 CDCA7 TCF20 GATA4 NSMF SMO MYOD1 KAT8 LRP2 UBE3A ELN GTF2E2 GPKOW TPM3 SIAH1 MYH3 CEP120 ZC4H2 ALX4 FANCF ERCC1 CHRNA1 PIK3R2 TBC1D20 WAC TBR1 ZNF292 ARVCF ALG13 FGF9 NFASC KNSTRN KIAA0753 DLL1 LRP5 P4HB TRAPPC4 CTLA4 TAC3 MADD FIBP THOC2 CNOT3 DLX4 NTNG1 FLII NUP88 RPL35 TENM3 TRMT10A RPL35A RAB3GAP1 ANKRD11 GLB1 SLC12A2 WNT5A SPART TPRKB GAS1 FLT4 TMCO1 CIT XRCC2 TBX2 AMER1 PCLO GPAA1 ALDH6A1 SOX9 ADAMTS3 CTNND2 MED13L CHRND DSE NONO COL5A1 HDAC8 HLA-DPB1 FANCC PDGFRB MFAP5 MSL3 APC PAH FLCN POGZ MAD2L2 RB1 TWIST2 SEMA3E PAK1 FOXC1 CHRNA7 PIK3CD AP1S2 SMARCB1 DPM2 GNRHR TMEM231 ELMO2 NF2 KISS1R RPS7 KLHL41 DPYD PEX2 FRAS1 BCL11B CHD3 DPF2 RNF2 CCBE1 AVP LIG4 CPLX1 LTBP4 EXOC6B PAFAH1B1 PTPN22 SOST VPS35L NSD1 CDK19 INSR RASA2 COL2A1 FANCG CTU2 BRIP1 PLP1 PEX6 GABRD DLK1 FANCM PALB2 GBA TONSL A2ML1 DIS3L2 SH3PXD2B GATAD2B NDE1 TGFB1 BMPER SLC9A6 PLEC TDGF1 NTRK1 STRADA RPS6KA3 GATA1 GATA5 CENPF MSTO1 QARS1 CDK13 RSRC1 EZH2 ASXL2 RPS27 ALDH18A1 ERCC4 CRTAP GRIP1 CTBP1 NOTCH3 GPT2 ACTB NALCN SIK3 PAK3 ZNF699 CTCF ROR2 GPC3 PHIP MTOR PROK2 GJA5 OSGEP FGF17 KIF15 BRCA1 PITX1 CNTN1 CD79A RRAS2 UBE2A PRRX1 GREB1L CNOT1 GATA6 EPB41L1 PPP1R21 NTNG2 B3GAT3 COMT PIGB COX5A DVL1 BRCA2 GDF1 IGLL1 MPLKIP CDC45 PTCH2 CDK10 KIDINS220 CITED2 PACS2 JAG1 SVBP RRAS TMEM94 TANC2 PPP2R1A USB1 POLR1B CENPJ TARS1 KAT6A SLC39A13 PSMB8 PMM2 SLC12A6 FANCB IGF1R SYNGAP1 LMBR1 PHGDH TBX15 POLR3GL CAMTA1 DDR2 AUTS2 PIGO KNL1 ERMARD PHF6 DUSP6 DOCK3 EXTL3 GLI3 P3H1 AHDC1 COL1A2 EDEM3 PGAP3 PDPN STIM1 FBLN5 DEAF1 HS6ST1 PEX1 HYLS1 KMT2A CHRNG CAMK2A SERPINH1 EMC1 RTTN TRIO KDM1A PPP2CA ZIC3 TELO2 ABL1 CHST3 NELFA LRPPRC NCDN GORAB MGAT2 EEF1A2 EVC RAB3GAP2 FARSB HECW2 ACBD5 PHACTR1 FARSA ZBTB20 EPG5 SON LOX CDKL5 UMPS DOCK6 ERCC3 CDC42 LUZP1 TGDS SRD5A3 THRB CRB1 RPS26 KCNJ6 ACTL6A ANK1 KCNJ5 TAF1 CCNK RAD51 OGT IL11RA TMEM237 TPM2 TMEM107 ZPR1 PRKACB NGLY1 RPL5 ITGA3 COX7B THOC6 FANCE ALG8 DOK7 MEGF8 ACOX1 ACTA1 POLD1 NLRP3 FANCI CCDC22 MRAS ABCA12 GZF1 CHSY1 ASXL1 ANKRD17 IQSEC2 EVC2 SKIV2L WDR73 SMAD2 UFD1 MAF RIPK4 STAMBP IGHM MAT2A PTH1R CSPP1 CHD8 CHD4 TMEM138 RMRP EFEMP2 KCTD1 POLR1A IARS2 ADA2 RTL1 MAN1B1 MMP23B NGF CRIPT UBR7 SH2B1 TCTN1 MAN2B1 AGL WDR37 EFNB1 GRIA4 WDR11 DDX3X AIFM1 SHANK3 HEY2 EP300 MEIS2 PDGFB KATNIP WDR4 CARS1 TUBB KCNK4 HHAT SSR4 ALMS1 FGFRL1 MED12L SPINT2 RPL26 IL1RAPL1 FH KDM4B BCR MMP2 OCRL GTF2H5 TASP1 SETD1A ARNT2 SEPTIN9 DYNC1I2 BRCC3 JMJD1C PRPS1 MYH11 NOVA2 EIF2AK3 NOTCH2 NIPBL RYR1 GRIA3 NUP107 ATP6V1B2 NSUN2 SMCHD1 RPL15 IFT52 ACTA2 STIL BNC2 TFAP2B AASS PIK3R1 ABCD4 PIGU SRC KCNQ1 SHROOM4 XRCC4 POU1F1 RPL31 B4GALT7 PUF60 RBM10 MTHFR LEMD3 CTSK AGA NSMCE3 RREB1 TRMT1 CSNK2A1 WASHC5 VSX1 RPS17 FBXW11 NSD2 GAD1 MYT1L RPS15A EXOSC9 COX14 FOXE3 BBS7 FOXF1 PIGV POLR2A TSR2 SLC39A14 VANGL2 FBXO31 TCF12 WARS2 PARS2 BRPF1 PITX2 IRX5 PPP2R5D FGF20 PLCB3 PKDCC TOGARAM1 MARS2 KAT6B INTU SMARCA2 AFF3 HBA2 FAM149B1 MOCS1 GK PRMT7 SEMA5A SMARCD1 CYP27A1 LEMD2 PALS1 GNPTAB USP9X FGF3 CD79B DHPS RPGRIP1 THRA SIX2 KCNAB2 ASXL3 SPRED1 SMARCE1 MLXIPL MRPS14 NBAS TRRAP MTX2 COA3 HSD17B4 BLNK TERT ADGRG6 EBF3 CASZ1 PRDM16 HBA1 PTRH2 HACE1 YARS1 COL27A1 PLK4 SLC1A4 BMPR1A HTT TNRC6B TCTN2 KLF13 IFT81 HP_ABNORMALITY_OF_GLOBE_SIZE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_GLOBE_SIZE ERCC2 ATR TCTN2 SIX3 BUB1B ALX3 SUFU ERCC8 INTS1 FGFR1 RAB3GAP1 KRAS EBP NDP MBTPS2 RSPO2 RERE FREM2 SMCHD1 ZIC2 SMOC1 HMX1 DAG1 CENPF TCTN1 MSTO1 CRYAA RAB18 ERCC6 XYLT2 ZEB2 SIN3A WDR37 FAM111A OCRL COX7B CYP1B1 NUP188 ERCC1 CPSF1 SLC6A1 RFWD3 ERCC4 STRA6 MIR140 AKT1 GRIP1 PIGN FIG4 TUBB VSX2 MKS1 TBX15 ACTB PORCN SHH SALL4 SMO LRPAP1 FZD4 VAC14 ZNF699 RARB DOCK7 RPGRIP1L FKRP POMGNT2 PQBP1 GLIS3 FANCL TMEM67 OSGEP KIF14 B9D1 PAX6 HCCS PUF60 BRCA1 GDF6 MAB21L2 SALL1 DISP1 NEXMIF FGF8 SMARCA2 CHD7 MFRP GTF2H5 PRSS56 TXNDC15 PTCH1 SCN1A B4GAT1 CHUK SEC24C TBL1XR1 PXDN YAP1 SOX2 ALKBH8 B3GAT3 FANCI POLR1D BUB1 COMT RAB3GAP2 DONSON MAPRE2 JMJD1C BRCA2 C12orf57 RECQL4 ACTG1 MPLKIP CHSY1 POMK FANCG SLC38A8 COL4A1 B3GALNT2 OTX2 GLI3 GJA1 B9D2 CRPPA FANCA NHS POLR1B STIL TARS1 MTX2 HIRA GLI2 PIEZO2 DACT1 ADAMTSL1 ALX1 PTCH2 TBX1 TMEM216 POMT1 FANCB DLL4 IKBKG SMG9 GTF2E2 CC2D2A FKTN NAA10 TUBGCP6 FANCE CEP120 CASK MAB21L1 WNT3 KCNJ6 LRP5 POMGNT1 SETD5 ALX4 ERCC5 FANCF NOTCH1 POLR1C TBC1D20 TBR1 PHGDH GMPPB ARVCF CAPN15 POMT2 VPS13B RREB1 PDE6D CRB1 RXYLT1 HMGB3 CEP290 RAD51C FOXL2 ZNF408 KIF11 WDR73 BUB3 ARHGAP31 PIK3CA BCOR RBPJ KCNJ1 TMEM231 EOGT HYLS1 SLC25A24 COX14 ESCO2 ALDH1A3 TCTN3 BEST1 FBXW11 TENM3 PIGV RTTN ATOH7 TCOF1 FOXE3 FANCC SLX4 LARGE1 BMP4 CHST3 CHD2 NDUFB11 SYCE1 CSPP1 RNF113A SEMA3E NUAK2 KIF7 WDR26 XRCC2 ERCC3 PTEN DOCK6 TMEM98 RHOA ALDH6A1 TOGARAM1 HRAS PITX3 SH3PXD2B TFAP2A MED13L INTU HDAC6 BRIP1 ASPH SYNGAP1 UBE2T NRAS RAD51 TKFC MED25 RBP4 TMEM237 MAD2L2 RB1 TMEM107 TUBGCP4 SMAD4 AP2M1 FGFR2 GNAQ RAX RPGRIP1 FUT8 NCAPG2 PHYH MITF FBN1 FANCD2 SLC2A1 GDF3 RBBP8 SIX6 FRAS1 FGF3 FREM1 CTNNB1 PEX7 ARX PAX2 UFD1 CEP57 RIPK4 VAX1 GP1BB PCYT1A PLK4 ABCB6 TSPAN12 VPS35L TRIP13 CTDP1 MT-CYB DPYD TWIST1 PIK3R2 FANCM PALB2 HP_RECTAL_POLYPOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECTAL_POLYPOSIS BMPR1A GREM1 ENG MUTYH SMAD4 HP_CONNECTIVE_TISSUE_NEVI http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CONNECTIVE_TISSUE_NEVI TSC1 IFNG TSC2 LEMD3 PTEN SLC25A24 HP_SCLEROSIS_OF_FINGER_PHALANX http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SCLEROSIS_OF_FINGER_PHALANX GJA1 NGLY1 TRPS1 EIF2AK3 ERCC6 ERCC8 TONSL HP_OPEN_OPERCULUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OPEN_OPERCULUM FH CSPP1 KIAA0586 GCDH C2CD3 HP_ABNORMAL_RENAL_MEDULLA_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_RENAL_MEDULLA_MORPHOLOGY CEP120 DYNC2LI1 IQCB1 CEP164 RPGRIP1L NPHP1 INVS CEP290 IFT172 ZNF423 TRIP11 SDCCAG8 PDHA1 DYNC2H1 CEP41 MUC1 DZIP1L AHI1 TMEM67 WDR19 FAN1 DCDC2 BSND NPHP3 IFT80 XPNPEP3 CEP83 TRAF3IP1 PKHD1 ZNF699 GLIS2 CRB2 NPHP4 AP2S1 ANKS6 NIPBL DYNC2I1 NEK8 MAPKBP1 DYNC2I2 IFT43 TMEM216 LONP1 PBX1 TTC21B JAG1 TMEM138 IFT140 OSTM1 DHX16 COQ7 HP_NARROW_FORAMEN_OBTURATORIUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NARROW_FORAMEN_OBTURATORIUM CCN2 CCR6 CAV1 IRF5 HLA-DRB1 KIAA0319L HP_SHYNESS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SHYNESS RLIM SETD2 AP4E1 AP4S1 AP4B1 POLA1 AP4M1 C12orf4 FMR1 NONO DPYD HP_HYPERESTHESIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERESTHESIA PSAP NF2 GALC ATL1 COL1A1 NALCN NTRK1 UNC80 HP_ABNORMAL_SHAPE_OF_THE_PALPEBRAL_FISSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SHAPE_OF_THE_PALPEBRAL_FISSURE SIM1 XRCC2 FANCB MAGEL2 RNF2 HERC2 NSDHL BRCA2 FANCE NDN SNRPN PWRN1 STXBP1 KATNB1 EHMT1 MKRN3 FANCI PWAR1 LMX1B KAT5 FANCF OCA2 FANCC FOXL2 SLX4 KIF15 FANCA PUF60 NPAP1 UBE2T BRF1 FANCG UBE2A FANCL RAD51 BRCA1 ANKRD17 MAPK1 BRIP1 FANCD2 SNORD116-1 RFWD3 HNRNPH2 SNORD115-1 FANCM CHD1 ERCC4 PALB2 SYT1 KMT2C MAD2L2 RAD51C HP_SLANTING_OF_THE_PALPEBRAL_FISSURE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SLANTING_OF_THE_PALPEBRAL_FISSURE ATR ATP7A A2ML1 CCDC32 SATB1 PIGA BUB1B SH3PXD2B CACNA1A HERC2 PUS7 BBS1 DPM1 MAP2K2 HNRNPK APC KANSL1 TAF13 TNRC6B WDFY3 PPP2R5D RPS6KA3 PHC1 CDK19 CENPJ DHCR24 ADAMTS3 SMOC1 KAT5 METTL5 SLC13A5 BRAF PYCR2 NAA10 ANKRD11 CBL PEX3 MAP2K1 NEXMIF CDK13 SIN3A PEX12 SOS2 AKT1 SC5D EZH2 CNKSR2 CSGALNACT1 NXN KCNMA1 TUBB3 SOS1 GABRB2 ERCC4 NTRK2 CHST14 TRAK1 HUWE1 FIG4 NRAS BBS9 CTBP1 NOTCH3 SLC19A3 OTUD6B SLC1A2 SYP NDN TRAPPC14 SHH NALCN PEX5 DLG3 SCAPER PAK3 VAC14 CEP290 HNRNPU ROR2 EFTUD2 GPC3 PHIP MED12 PEX7 MAPK8IP3 MTOR PQBP1 OSGEP CREBBP CERT1 KIF15 BRCA1 ZIC2 PITX1 DPH1 PEX19 RRAS2 AMMECR1 YWHAE SNRPN ATP6V1A DHODH CD96 UBE2A FLNA PTEN UBA5 ACSL4 ZNF711 ADNP JARID2 MID2 DNM1 BICRA RERE SNAP29 UBE3B PPP1R21 B3GAT3 BUB1 COMT PIGB RAB3GAP2 MAPRE2 ZMIZ1 ALG2 DVL1 ATRX SLC2A10 BRCA2 CEP152 COG1 FGFR2 PGAP1 FBXL4 PTCH1 CDK10 PGAP2 KIAA1109 NSD1 GSC SHOC2 PACS1 HRAS USP27X POLR1A PACS2 NONO JAG1 SVBP RRAS SMARCA2 CDH11 CYFIP2 TOR1A LIG4 AFF4 TANC2 FGFR1 MED27 CCDC115 BPTF POLR1B AARS1 SCN3A FBN1 HHAT HIRA SNORD116-1 CDK5RAP2 SLC39A13 GLI2 EEF1A2 PMM2 TBX1 SETD5 ODC1 FANCB IGF1R STXBP1 SIM1 TBCD BCL11B POLR3GL TCF4 WWOX SDCCAG8 KAT6B SMC1A PWRN1 KDM5B AUTS2 DPYSL5 PIGO DISP1 CASK KCNN3 USP9X CFAP418 MKRN3 DOCK3 PWAR1 QRICH1 ADAT3 ATP6V1E1 CLCN4 ARHGEF2 GLE1 AHDC1 POLR1C GRIN2D KIFBP FGF10 PPP3CA SEC24D VPS13B EIF5A CEP57 FGFR3 EDEM3 TRIM32 PGAP3 MN1 CEP19 RAF1 CHD1 PAX3 RAD51C NDUFS4 SMPD4 GPC4 KIF11 BUB3 RIT1 BMP2 PIGL POLR3A POR DEAF1 PEX1 SLC25A24 ESCO2 DOK7 ZIC1 ATRIP BBS12 CHRNG CAMK2A PEX26 ZNF41 TRIP12 NFIX RTTN TRIO NPHP1 KDM1A ZNF81 NSDHL ACTB TCOF1 FGD1 TELO2 SLX4 ATP6V0A2 CHST3 NELFA BBS5 RNF135 FTSJ1 MGAT2 BBS7 EED ARID2 MAPK1 SIX3 ARID1B MAP3K7 CELF2 CUL4B TSR2 PPP1R12A HS2ST1 PPP1R15B HCN1 ZC4H2 CWC27 TRAIP ZBTB20 SON SASS6 COLEC11 UMPS MVK ASPM SPECC1L SUZ12 PRRX1 TFAP2A CDC42 DONSON GJA1 RLIM KDM4B DPYD ACTL6A ARV1 AP3B1 WNT5A PIGW ANK1 UBE2T TAF1 B3GLCT HS6ST2 EBP FGF13 KCNA2 SZT2 FOXP1 IFT172 RAD51 BCORL1 NOTCH2 PSMD12 ORC6 ZEB2 PIGG TGFB3 COG7 RAB11B KCNB1 KMT2E ARHGEF6 DMXL2 THOC6 FANCE KCNE5 CKAP2L MEGF8 PIGT MFSD2A FANCI CEP135 CENPT CCDC22 GABRA5 MRAS WDPCP EP300 UQCC2 CACNA1B FANCL EXOC2 ASXL1 ANKRD17 SETD2 OFD1 IQSEC2 SETBP1 YY1 DHDDS STEEP1 ATAD3A RIN2 SCN8A KNL1 DDX6 UFD1 MED13 IL1RAPL1 MAF YWHAG RIPK4 SYNGAP1 LZTR1 GALNT2 FGF12 IFT57 ZSWIM6 FGF8 TBX6 GP1BB TMEM237 STAC3 SKI TTC8 DYRK1A CHD8 CIT CHD4 NUS1 PCNT NARS1 HBB EFEMP2 FOXG1 FANCD2 BGN LMNB1 PEX6 RNU4ATAC SATB2 MYH3 KRAS ARL6 SLC45A1 AP4E1 MAN1B1 MEF2C RBBP8 EXOSC2 SPOP ANKLE2 DDB1 SF3B4 DNAJC21 SYNJ1 MCTP2 C2CD3 MED25 UBR7 SLC9A7 SPTBN1 FAM20C FRMPD4 PEX10 PTCHD1 WASF1 EFNB1 ARX GRIA4 CENPE CLTC CHAMP1 ACTL6B MCPH1 RFWD3 PYCR1 LRP4 MEIS2 NF1 FBXO11 GABRA2 OTUD5 IGBP1 PEX16 PTPN23 SMS TUBB COLEC10 PPP1CB PIGN UNC80 DVL3 CACNA1G MED12L RAI1 HPDL PPP2R1A CDH2 MPDZ BBIP1 DMD KIF14 OCRL AGO2 TASP1 SETD1A WDR62 SEPTIN9 COL11A1 DYNC1I2 SEC24C PURA LZTFL1 PTPN11 POLR1D GMNN JMJD1C TLK2 RAB39B DYNC1H1 CPLX1 GDI1 NOVA2 KDM5C EIF2AK3 ALG13 MECP2 GLI3 ATP6V1B2 FANCA HERC1 FHL1 PARS2 STIL RDH11 PLK4 CNOT3 PLOD1 TGFB2 CEP63 TCF20 TFAP2B SOX5 MYOD1 KAT8 LRP2 MYMK AP1S1 PHF8 NBN TBCK KMT2A RAPSN PEX2 UPF3B SIAH1 PUF60 ZNF462 SLC29A3 ALX4 MED13L FANCF WAC TBR1 PEX14 ZNF292 XRCC4 ARVCF LETM1 KCNH1 NCAPD3 COPB1 COL11A2 NECTIN1 RREB1 P4HB FZD2 TRMT1 WASHC5 BBS4 TRAPPC4 BBS2 FBXW11 MADD NSD2 FIBP GAD1 MYT1L DLX4 RPS28 PIK3CA CHRNA7 KIF7 MYCN SPEN NTNG1 FLII GATA4 CAMTA1 PIGV TRMT10A IFT27 MKS1 SLC12A2 KPTN AGTR2 LDHD ADARB1 GABRG2 ACTG1 APC2 PIGY NECAP1 GATAD2B CNOT2 TMCO1 BRPF1 RECQL4 IFT74 CHD7 CDK6 ZNF148 XRCC2 HDAC4 ABAT ABCA5 SETD1B PKDCC TOE1 NFIB ALDH6A1 CTNND2 ZMPSTE24 DSE COL5A1 ASPH FANCC PDGFRB HBA2 MSL3 POLA1 FLCN MKKS MAGEL2 SEMA5A MAD2L2 PALS1 C12orf57 ADAMTSL2 AP3B2 AMPD2 PEX11B SEMA3E FGF3 TTC37 COPB2 WDR35 EHMT1 DYNC2LI1 MINPP1 ASXL3 SPRED1 MASP1 TNNI2 TUBGCP2 TSPEAR TSPAN7 BCL11A TWIST2 TRRAP HSD17B4 PHOX2B NR2F1 DPF2 ADAMTS2 GATA1 EBF3 SPART NTNG2 HBA1 DHCR7 PEX13 FLI1 PAFAH1B1 BMPR1A RPS19 VPS35L LMNA RASA2 NPAP1 HTT TRIP13 FANCG HCFC1 DALRD3 CTU2 BRIP1 UBE3A SNORD115-1 FANCM PALB2 BBS10 HP_ABNORMAL_SIZE_OF_THE_PALPEBRAL_FISSURES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_SIZE_OF_THE_PALPEBRAL_FISSURES ATR RNU4ATAC LMNB1 KMT2E CCDC32 RTL1 GTF2I SIX3 COLEC10 FAT4 KRAS GATAD2B KMT2D INTS1 FGFR1 MYCN HNRNPK KANSL1 EXOSC2 SPOP DDB1 BPTF RERE MCTP2 WDFY3 SMAD4 OTUD6B SLC9A7 ZIC2 SMOC1 SPTBN1 TXNL4A RAB18 FRMPD4 PTCHD1 CDK13 ARX GRIA4 B9D2 NXN ACTL6B KCNMA1 TBL2 RECQL4 RFWD3 PYCR1 ERCC4 MAP2K2 MIR140 ERF HUWE1 LARP7 KCNJ2 TBX15 ACTB PTPN23 TUBB HSPG2 UBR7 SYP HHAT SHH SALL4 DLG3 SMO DVL1 MADD ROR2 MEG3 ADNP CACNA1G SOX6 MED13 NCF1 CREBBP FOXL2 CLP1 HPDL PHF6 KIF15 PUF60 DNAJC30 BRCA1 MYLPF SALL1 BCORL1 DISP1 KDM4B CEP55 UGDH HDAC4 BCR PSMD12 FGF8 SMARCA2 BCL7B DMD AGO2 AUTS2 SEPTIN9 FTSJ1 CHN1 ACSL4 ZNF711 CNKSR2 JARID2 TBL1XR1 MID2 BICRA UBE3B CAMK2G DONSON PDE4D MAPRE2 ZMIZ1 SOX11 SLC2A10 DCHS1 BRCA2 CEP152 PURA ORC1 TLK2 ACTG1 WASF1 RAB39B PGAP2 GDI1 ELN RPS6KA3 ALG13 EIF4H MECP2 USP27X GJA1 NSUN2 SVBP FANCA BRAF TANC2 MED27 STIL BUD23 CNOT3 MAGEL2 DLK1 SCARF2 GLI2 PIEZO2 DACT1 MED12 TCF20 CLDN3 HNRNPH2 MOGS IQSEC2 ATP6V1A KAT8 ODC1 FANCB RBPJ BCL11B GPKOW KMT2A MAP2K1 ZMPSTE24 UPF3B PIGO RBM10 ERMARD USP9X SETD5 DOCK3 FANCF CLCN4 ERCC1 WAC TRMT1 EIF5A CEP57 FZD2 LMNA EDEM3 TMEM270 TBX1 TRAPPC4 SATB1 FBXW11 RBMX PAX3 RAD51C MYT1L RPL10 SMPD4 STRA6 MAFB PIGL GTF2IRD1 KAT6B SLC25A24 ABCC9 SPEN SLC6A17 NTNG1 ESS2 ZNF41 TRIP12 TENM3 PIGV ALG14 BCOR ZNF81 ANKRD11 SLX4 SLC12A2 WNT5A AGTR2 RAC1 SNX14 PAK3 PIGY MASP1 ARID2 METTL27 BRPF1 DGCR8 NUAK2 CUL4B ZNF148 MUSK XRCC2 PPP1R12A HS2ST1 PUS7 COLEC11 NFIB DOCK6 PCLO RHOA SOX9 RLIM AFF3 ACTL6A FANCC RFC2 MAPK8IP3 TP63 PIGW ANK1 KCNJ5 UBE2T B3GLCT CCNK CRKL FOXP1 RAD51 DDX6 PGM3 PGAP3 TGFB3 COG7 MAD2L2 PALS1 LIFR ARHGEF6 CLIP2 THOC6 FANCE ABHD11 PCGF2 WDR35 MYH3 DGCR2 KDM6A BMP1 PRMT7 FANCI LAT2 STX1A DDR2 DNMT3A EP300 FANCD2 MLXIPL FANCL DGCR6 TSPAN7 KPTN MAPK1 LIMK1 TMEM107 BAZ1B CLTCL1 DPYSL5 STEEP1 DVL3 ALX4 LIG4 IL1RAPL1 FIBP RIPK4 NTNG2 GTF2IRD2 STAC3 FKBP6 ERCC6 CHD4 CLDN4 HTT VPS37D FANCG HCFC1 AP3B2 PCNT TNRC6B GPC6 EFEMP2 KCTD1 FOXG1 BRIP1 PIK3R2 FANCM POLR1A PALB2 HP_ABNORMAL_LENGTH_OF_CORPUS_CALLOSUM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LENGTH_OF_CORPUS_CALLOSUM AHSG SLC35A2 ITGB6 PDHB LSS HP_NEOPLASM_OF_FATTY_TISSUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEOPLASM_OF_FATTY_TISSUE PIK3CA RPL10 APC SDHC AKT1 ENPP1 SDHB ALX3 PTEN MT-RNR1 SEC23B CDKN2B CDC73 MT-TK CDKN1B MT-TP ABCC6 ZSWIM6 FLCN AP2S1 MT-TQ BMPR1A VANGL2 CDKN2C MSTO1 ALX1 KRAS VANGL1 TAF1 MEN1 CDKN1A MT-TS2 SPRED1 MFN2 LEMD3 CCL2 MT-ND5 FUZ USF3 SDHD FGFR1 MT-TL1 MT-TF MT-TS1 MT-TH TBXT KLLN GNA11 HP_CORNEAL_EROSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CORNEAL_EROSION PRDM5 EPCAM PAX6 TGFBI CERS3 CLTCL1 NTRK1 ALOX12B ALDH3A2 HLA-B KRT3 FGFR2 GJB6 COL4A5 GJB2 SLC39A4 ELP1 WT1 COL4A3 MBTPS2 FGFR3 CHST6 TGM1 SPINT2 MMP1 CTNS KIFBP FGF10 TP63 NIPAL4 COL7A1 ZNF469 FOXC2 IKZF1 PNPLA1 COL17A1 FERMT1 MPV17 COL4A4 ABCA12 TWIST2 ALOXE3 PLCG2 HP_DOWN_SLOPING_SHOULDERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DOWN_SLOPING_SHOULDERS PALS1 JARID2 ATP7A MYT1L KMT2E CCDC32 GTF2I EYA1 SUFU GTF2IRD1 TRPV4 PAX1 ZMIZ1 SEMA3E CLIP2 BCOR WASF1 ABHD11 NTNG1 EFNB1 ELN WDFY3 OTUD6B TRMT10A RUNX2 EIF4H LAT2 STX1A TRIP12 SLC12A2 SVBP TANC2 MED27 TBX5 GRIA4 MLXIPL BUD23 CNOT3 ACTL6B METTL27 KCNMA1 TBL2 LIMK1 TCF20 CLDN3 CHD7 CUL4B PTCH2 BAZ1B IRX5 HUWE1 KAT8 DPYSL5 HS2ST1 PPP1R15B PIEZO2 BPTF SPRTN PUS7 DDX6 PTPN23 MED13 UBR7 NTNG2 GTF2IRD2 DOCK3 RLIM LMNA NCF1 ACTL6A RFC2 MAPK8IP3 HPDL FKBP6 CLDN4 DNAJC30 HTT VPS37D BCORL1 KDM4B TNRC6B NAA10 PSMD12 TRMT1 TMEM270 TRAPPC4 BCL7B SATB1 FBXW11 AGO2 PTCH1 MADD HP_OCULAR_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_OCULAR_PAIN SF3B1 OVOL2 ZEB1 BAP1 TGFBI CTNS GRHL2 CYSLTR2 GNAQ VSX1 COL8A2 SLC39A14 COL17A1 SCN9A CHST6 GNA11 HP_PAPULE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PAPULE COL1A1 PRTN3 LEMD3 UBAC2 KRT14 HLA-DPA1 IL23R ATP2A2 GGCX PTEN MEFV CARD14 AAGAB CCR1 KLRC4 TRAF3IP2 MBTPS2 FLCN IL17RC COL14A1 COL7A1 NLRP3 C4A ECM1 EGFR IL7 CYLD FAS GJB2 ABCC6 HLA-B LRP1 ELOVL4 NOD2 CIB1 COL5A1 CSTA BRAF SDHD PEPD TLR4 LPIN2 TMC6 KLLN CLEC7A PIK3CA NF1 PLEC KRT5 SDHC SDHB STAT3 IL10 XYLT2 IL12A SEC23B ERCC4 POGLUT1 TGM5 SLC17A9 ZMPSTE24 STAT4 POFUT1 IL12A-AS1 LMNA HAVCR2 LDHA PTPN22 XYLT1 AQP5 ANTXR2 HLA-DPB1 IL17RA IL17F ERAP1 GNAQ NAGA MVK TMC8 AEBP1 GNAS COL5A2 PSENEN USF3 CTLA4 AKT1 CFTR GLMN HP_SKIN_PLAQUE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_PLAQUE KRT14 KRT5 CARD14 TRPM4 BTNL2 ATP2A2 KRT83 CTLA4 CIB1 KDSR LAMA3 TSC1 COL7A1 LORICRIN CD28 TMC8 COL2A1 TNFRSF1B LAMB3 TSC2 RASA1 UBA1 MEFV CFTR GLMN PSMB8 LAMC2 TMC6 ADA2 SDHD IL7 HLA-DRB1 HAVCR2 LDHA HP_SKIN_NODULE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_NODULE MDM2 COL1A1 ENPP1 HMGA2 NRAS LEMD3 UBAC2 ASAH1 COL5A1 IL23R PTEN KIF11 SLC37A4 BCL6 IDH1 TTPA CYP27A1 GNAS COL5A2 MEFV KIT RAF1 CCR1 KLRC4 APOA2 APOB ATP2A2 COL7A1 LPL C4A ANTXR2 ECM1 CYLD GHR FAS TNFRSF11B KRAS BTNL2 HLA-B TEK GJB2 ACVR1 TSC2 EPHX2 FERMT3 OCRL IL12B APOE BRAF SDHD TLR4 MLX DACT1 PTPN11 KLLN PTH1R INSR MMP14 PIK3CA KIF1B GLA SDHC AKT1 MYSM1 SDHB IL10 APC IL12A PDGFB CTNNB1 SEC23B PORCN CDK4 NOTCH3 TSC1 IDH2 ABCC6 PPP1R17 BCL2 STAT4 FUS IFNG IL12A-AS1 HLA-DRB1 FGFR2 LDLR COL3A1 DDIT3 PDGFRB SALL1 IARS2 ERAP1 NAGA FBN1 G6PC1 MMP2 USF3 TNFRSF11A PCSK9 MC1R GLMN FGFR1 HP_SKIN_VESICLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_VESICLE KRT5 PLEC NHP2 STAT3 TINF2 SLC35C1 CTC1 PPOX NPM1 PARN TERT ATP2C1 RTEL1 POFUT1 POGLUT1 DKC1 NOP10 COL7A1 PSENEN WRAP53 ATP2A2 TERC DSC3 MEFV USB1 HP_PUSTULE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PUSTULE ADAM17 STING1 PSTPIP1 MRTFA IL17RA EGFR CIB1 SCNN1G SCNN1B CTSC CTSB TMC8 IL1RN SCNN1A CARD14 SLC39A4 MEFV LPIN2 IL36RN TMC6 JAK3 ECM1 IL7 LDHA HP_EPIDERMOID_CYST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPIDERMOID_CYST APC KRT17 POFUT1 KRT6A POGLUT1 TSC2 CTNND1 CEP57 PSENEN CDH1 KRT16 ANTXR1 KRT5 KRT6B TSC1 HP_SKIN_EROSION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_EROSION KRT14 ARL6IP6 KRT5 COL7A1 UROS NAXE LMNA COL2A1 PPOX UROD DSP ITGB4 LAMA3 ATP2C1 CSTA LAMB3 ZMPSTE24 GATA1 TGM5 PLEC LAMC2 HP_SKIN_ULCER http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SKIN_ULCER SLC4A1 GJB6 GBE1 IRF5 PRTN3 HBB NTRK1 GFI1 SPTB HLA-DPA1 KIF11 LMNA WRN PTPN22 HLA-DRB1 TAP1 IDH1 WAS TERT KIAA0319L TAPBP RETREG1 CCT5 CAV1 TAP2 GBA TERC TRAF3IP2 LAMA3 IL17RC NOTCH2 ANTXR2 NHP2 EPB42 P4HA2 COL1A1 ITGB4 DOCK8 DLL4 GJB2 NOD2 WNK1 SPTLC2 IL12B CCR6 MPV17 RASA1 NCF2 HLA-B LBR MEFV PEPD MLX PIGL CYBA CYBB PTH1R SCN9A CLEC7A SRP54 STAT3 PSTPIP1 KRT1 ANK1 ATL1 PDGFB WIPF1 CCN2 NCF1 PARN PERP KRT10 RTEL1 NOTCH3 CD28 F12 BMS1 TNFRSF1B DKC1 NOP10 IDH2 ITGB2 SLC39A4 TREX1 WRAP53 ATL3 USB1 TP63 WDR1 AK2 ADA2 HAVCR2 PROS1 SPTA1 AQP5 IKBKG CYBC1 HLA-DPB1 TINF2 BTK IL17RA NGF NCF4 KIF1A CTC1 ELANE PDGFRB CTLA4 NPM1 IL17F GNAQ MBTPS2 SPTLC1 TCIRG1 OCRL COL3A1 LYST PLEC PGM3 NFKB1 TRPV3 HP_VERRUCAE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_VERRUCAE TMC6 KRT9 CXCR4 DCLRE1C IKBKG BLNK STK4 TCF3 ATP2A2 DOCK8 KRT1 CIB1 FCN3 IGLL1 PIK3R1 KRT16 TMC8 CD79A CARMIL2 IGHM CD79B LRRC8A IVNS1ABP CD4 IL7 ECM1 HP_POROKERATOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_POROKERATOSIS SLC17A9 FDPS RECQL4 MVK MVD PMVK ANAPC1 HP_CYANOTIC_EPISODE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CYANOTIC_EPISODE SCN1A GABRG2 PSAT1 SCN9A SCN1B STXBP1 GABRA1 PCDH19 SCN2A HP_UPPER_LIMB_HYPERTONIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_UPPER_LIMB_HYPERTONIA VPS37A SEPSECS CLDN11 TSEN34 MTPAP SPG7 TSEN54 TSEN2 TSEN15 HP_SMALL_HAND http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SMALL_HAND SIM1 HDAC8 CNOT3 SATB1 NGLY1 SLCO2A1 HERC2 WRN USP9X COG4 COG1 ORC1 RECQL4 EVC2 RMRP ROR2 GABBR2 DYNC1H1 PCGF2 CDK10 WDR81 STXBP1 BPTF MCTP2 FAM50A MAGEL2 DLK1 TBCE NTNG1 RTL1 KMT2D CCBE1 SMC3 FGFR2 TELO2 SON NSUN2 SNRPN AFF4 MBD5 SIN3A MECP2 PPM1D BRD4 LAS1L CDKL5 NDN SMC1A KIF5C HTT NIPBL TUBB3 SNORD116-1 EVC CUL4B FBXO11 XYLT1 TCF4 IGF1R COL11A1 KCNJ2 RNF2 SATB2 HDAC4 USP7 NALCN SHROOM4 LIG4 CENPE SPECC1L DVL1 PWRN1 MEG3 GALNT2 PIGN UNC80 MAPK8IP3 CTNND2 MKRN3 MIR140 PWAR1 GJA1 CANT1 KDM6A OCA2 HPGD HUWE1 DPM1 KIFBP WNT5A KCNJ5 PUM1 NPAP1 FGD1 DPH1 SLC6A17 FBN1 FMR1 COL3A1 SEMA5A TRPV4 SMARCD1 SNORD115-1 POC1A RAD21 ADNP CHUK LTBP3 HP_COLORECTAL_POLYPOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_COLORECTAL_POLYPOSIS PIK3CA GREM1 SDHC RNF43 KEAP1 SDHB MUTYH TP53 PTEN POLD1 CHEK2 SEC23B CDKN2A MSH3 DICER1 MDM2 USF3 SDHD AKT1 BMPR1A POLE KLLN AXIN2 HP_CHORIORETINAL_DEGENERATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHORIORETINAL_DEGENERATION SLC25A15 ZNF408 C1QTNF5 ZEB1 GRHL2 TIMP3 CTNNB1 SPATA7 PAX2 CYP4V2 CFH GUCY2D PRPH2 EYS LCA5 OVOL2 NRL SAG FZD4 OAT CFI LRP5 GUCA1A DPP6 TSPAN12 ACVRL1 CRB1 POU3F4 FSCN2 CHM TEAD1 RPE65 JAG1 ROM1 CRX VSX1 ADAMTS18 LRAT NDE1 NDP HADHA VCAN COL8A2 RP2 EFEMP1 HP_RECURRENT_SPONTANEOUS_ABORTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_SPONTANEOUS_ABORTION F2 F12 ABCC6 F13A1 SYCP3 HTR1A ENPP1 SERPINC1 ANXA5 F5 C11orf80 F13B HP_RESPIRATORY_INSUFFICIENCY_DUE_TO_DEFECTIVE_CILIARY_CLEARANCE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RESPIRATORY_INSUFFICIENCY_DUE_TO_DEFECTIVE_CILIARY_CLEARANCE DNAAF11 HYDIN ODAD2 ZMYND10 CCDC65 ODAD1 CFAP298 DNAAF5 ODAD3 SPAG1 HP_LIMB_TREMOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LIMB_TREMOR PGAP1 LMNB1 SNRPN SLC12A6 CACNA1G CARS2 CIZ1 DDC ITPA COL6A3 PMP22 UBE3A TUBB4A ITPR1 MPZ ANO3 HP_ORAL_MUCOSAL_BLISTERS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORAL_MUCOSAL_BLISTERS ITGB4 LAMC2 KRT14 PLEC KRT5 MMP1 COL17A1 COL7A1 LAMB3 LAMA3 ITGA6 DSG3 HP_ABSENT_SKIN_PIGMENTATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_SKIN_PIGMENTATION TYRP1 SNAI2 TYR OCA2 KIT MC1R HP_DECREASED_ABSENT_ANKLE_REFLEXES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_ABSENT_ANKLE_REFLEXES GJB1 VCP DYSF MRE11 OPA1 SACS C19orf12 RAI1 TWNK SQSTM1 ATXN3 ATP6AP2 PDK3 GNE POLG NEFL ALDH18A1 KLHL9 MFN2 POLG2 RRM2B HINT1 VPS13A PLEKHG4 SLC25A4 HARS1 OPA3 MYOT PGM3 ARL6IP1 HP_SPARSE_OR_ABSENT_EYELASHES http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SPARSE_OR_ABSENT_EYELASHES GJB6 RECQL4 DLX4 EPS8L3 POLR1D TWIST2 NOP10 KRAS ANAPC1 POLR3A FIG4 CLDN1 ITGA3 SPINK5 SOX18 LPAR6 MBTPS2 WDR35 GJB2 DSG4 SF3B4 ANTXR1 NECTIN4 NHP2 DOLK BRAF LIPH BANF1 TCOF1 ALX1 KREMEN1 LRP1 NECTIN1 TP63 LSS POLR1B RPL21 B4GALT7 EDNRA TRPS1 RIPK4 EDARADD HR MAP2K2 LMNA MPLKIP FRAS1 CWC27 ODC1 EDAR TSR2 HOXC13 KRT85 TMCO1 ALX4 RNU4ATAC SNRPE KANK2 MAP2K1 ZMPSTE24 VAC14 JUP COL11A1 KRT25 EDA SMARCA2 GJA1 APCDD1 CDH3 POLR1C KRT74 DKC1 PHGDH CST6 BLM EBP DPH1 HRURF DSP RMRP NF1 DSC3 GTPBP2 HP_ABSENT_SHORTENED_DYNEIN_ARMS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABSENT_SHORTENED_DYNEIN_ARMS DNAAF11 DNAAF3 DNAL1 ZMYND10 CFAP298 DNAAF5 TTC12 CCDC39 NME8 CFAP300 ODAD1 DNAAF1 ODAD3 HP_METABOLIC_ALKALOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_METABOLIC_ALKALOSIS CACNA1D CLCNKB SCNN1G HSD11B2 KCNJ1 NR3C1 SLC12A1 CLCN2 IKZF1 HLA-B SCNN1A KCNJ5 KCNJ10 BSND CLCNKA NARS2 SLC26A3 SLC12A3 SCNN1B HP_RECURRENT_UPPER_AND_LOWER_RESPIRATORY_TRACT_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_UPPER_AND_LOWER_RESPIRATORY_TRACT_INFECTIONS USP9X MGAT2 DCLRE1C UNG GLI3 RAG2 SCNN1A SCNN1G AICDA SCNN1B RAG1 ZAP70 HP_CHRONIC_HEPATITIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_HEPATITIS ALMS1 CIITA AIRE CD40LG C4B HBB RFXAP IL21R RFXANK RFX5 HP_CHRONIC_HEPATITIS_DUE_TO_CRYPTOSPORIDIUM_INFECTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_HEPATITIS_DUE_TO_CRYPTOSPORIDIUM_INFECTION CIITA RFXAP IL21R RFXANK RFX5 HP_MITOCHONDRIAL_RESPIRATORY_CHAIN_DEFECTS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MITOCHONDRIAL_RESPIRATORY_CHAIN_DEFECTS MT-ND4 MT-CYB MT-ND6 NDUFS2 MT-ATP6 SLC3A1 MT-ND2 PNPT1 PREPL MT-ND5 DNAJC30 MT-ND4L MT-CO1 CYP27A1 MT-CO3 MT-ND1 PPM1B CAMKMT TRMU FBXL4 HP_BIVENTRICULAR_HYPERTROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BIVENTRICULAR_HYPERTROPHY TALDO1 GDF1 CACNA1D ATP6V1E1 PRKAG2 ALG12 MED13L TNNC1 HP_EPILEPTIC_ENCEPHALOPATHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPILEPTIC_ENCEPHALOPATHY NEUROD2 SLC13A5 GABRB1 PIGA HNRNPU AP2M1 SYNGAP1 GABRA1 GRIN1 GRIN2A KMT2E SLC25A22 SYNJ1 MEF2C DOCK7 KCNQ5 CACNA1A PMPCB GABRB2 CAD DENND5A SPTAN1 GRIN2B FCSK CLCN4 ADAM22 CACNA1B CNPY3 PACS2 CPLX1 CHD2 KCNA2 DPAGT1 RNF13 ST3GAL3 FGF12 TBC1D24 SCN1B ARHGEF9 SLC35A2 STXBP1 DHDDS PAFAH1B1 MDH2 SLC2A1 SCN1A COQ4 CDKL5 GLS TWNK CARS2 DNM1L GABRG2 PARS2 PNPO SIK1 SLC6A1 NUS1 NECAP1 NTRK2 DCX CYFIP2 GNAO1 GUF1 AARS1 MDH1 CACNA1E CACNA2D2 SLC1A2 ROGDI PHACTR1 DNM1 GABBR2 SCN8A SLC25A12 KCNT1 PIGP FRRS1L WWOX KCNQ2 SCN2A STAG1 DPM2 PPP3CA EEF1A2 KCNB1 AFF3 ARX GRIN2D HCN1 CUX2 NRXN1 NSF SZT2 AP3B2 ALG9 KCNT2 UGDH ATP6V1A NEXMIF ARV1 GABRB3 BOLA3 SCN3A PLCB1 HP_ORAL_PHARYNGEAL_DYSPHAGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ORAL_PHARYNGEAL_DYSPHAGIA SEPSECS STXBP1 IRF6 EEF1A2 MBD5 NGLY1 ATP1A2 EXOSC9 KIF1A ASAH1 GRIN2B DMPK SCUBE3 CHAMP1 EPB41L1 UBB ARHGAP29 ZNF699 DEAF1 BRSK2 ADNP SLC2A3 GRIN1 CLTC SET KCNQ5 ASPA NBEA HIVEP2 CAMK2B BMP4 SETD1B TCF4 CDH1 MSX1 YY1 SLC1A3 KDM5B CACNA1A CTNS MED12L CUX1 RAI1 CIC TSEN15 TAF1 TANGO2 DOCK8 HTT CDH15 CNTNAP1 TSEN2 CACNG2 ATP1A3 TAOK1 DLG1 KIRREL3 MTRFR PPP3CA GRHL3 TSEN54 FLCN ASH1L SYNGAP1 GIPC1 RAB11A CSNK2B ZMYND11 TRPM3 DYNC1H1 DLL1 TSEN34 MYT1L ADCY6 DLX4 CAMK2A TP63 NECTIN1 HP_NEURONAL_LOSS_IN_BASAL_GANGLIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEURONAL_LOSS_IN_BASAL_GANGLIA SCO2 VRK1 MAPT HTT NDUFS2 NDUFAF3 NDUFB8 SURF1 HP_CSF_LYMPHOCYTIC_PLEIOCYTOSIS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CSF_LYMPHOCYTIC_PLEIOCYTOSIS RNASEH2B RNASEH2C SAMHD1 CACNA1A SCN1A TLR3 TRAF3 RNASEH2A TICAM1 ATP1A2 TBK1 ADAR TREX1 PRRT2 IFIH1 UNC93B1 HP_AGENESIS_OF_LATERAL_INCISOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGENESIS_OF_LATERAL_INCISOR CDH1 MSX1 LRP6 IRF6 DLX4 WNT10B TGFA AXIN2 B3GLCT FGFR1 DLG1 BCOR SUMO1 NAA10 ARHGAP29 EDA WNT10A BLM EDARADD PAX9 BMP4 TP63 NECTIN1 HP_AGENESIS_OF_MAXILLARY_INCISOR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_AGENESIS_OF_MAXILLARY_INCISOR RIPK4 SUMO1 LRP6 IRF6 MSX1 NAA10 WNT10B EDA WNT10A TGFA BLM AXIN2 EDARADD B3GLCT FGFR1 PAX9 BCOR HP_TALL_CHIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TALL_CHIN EIF2S3 SETD2 MYH8 TLK2 OPHN1 APC2 NSD1 HP_LONG_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_LONG_EAR EIF5A WNT7A EED KDM3B DPYD HP_MENOMETRORRHAGIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_MENOMETRORRHAGIA FGA ITGB3 ITGA2B GNAS FGG ARMC5 FGB HP_CLEFT_HARD_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLEFT_HARD_PALATE ZEB2 EIF4A3 NUAK2 NEK1 TP63 AMMECR1 HP_ABNORMALITY_OF_THE_PERIPHERAL_NERVOUS_SYSTEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_THE_PERIPHERAL_NERVOUS_SYSTEM SCN5A OPA1 SLC25A15 MPV17 COL1A1 MKKS NTRK1 MED25 LITAF PDK3 PTCH1 ARL6 TTR EGR2 GJB6 DDX59 NEFL GALC ERBB2 CCT5 MBTPS2 SLC6A8 CYP11B2 SPG11 RET DLL1 PMP22 TDGF1 FGF8 SH3TC2 MPZ ERCC8 EDNRB GDNF CEP41 TXN2 VCP MFF GDAP1 SIX3 ZEB2 PSAP CHRNA3 DIAPH3 GJB2 CEP126 SPTLC2 ARL13B TMEM237 SOX10 GBA FOXH1 INPP5E OTOF TUBB3 RFWD3 EDN3 GIGYF2 PHOX2B ZNF423 CBY1 ARL3 ERCC4 KRAS DYSF TCTN1 DBH SNAI2 SCN9A PIGN ARHGEF10 SEMA3C KIF1B CALM2 ATP1A2 GLI2 ZIC2 YEATS2 SNCA BBS1 SALL4 GARS1 PNKP CHCHD2 FOXF1 VPS13C IDUA PLEKHG5 GLUD2 CALM1 CYB561 TBP ATP7A CEP120 TGIF1 MYO1H PPOX GSN SUMF1 SETBP1 FBN1 TYMP SORD COL5A2 RFC1 FBLN5 PNPT1 GJB1 ACTG2 SIGMAR1 DISP1 SEPTIN9 TYR LMNB1 LTBP3 LRSAM1 AIFM1 ATXN1 SEC24C RRM2B SNAP29 IL12A PLP1 SHH KIAA0586 AHI1 COMT TMEM138 MYH14 TFG PLA2G6 JMJD1C BRCA2 ERBB3 FBXO7 CYP27A1 TCTN2 ATXN8OS SAMD9L PGAP2 FGD4 AARS1 SACS DEPDC5 NODAL KIFBP RAB7A CDON ATXN3 FANCA PINK1 LYST DHCR7 PRNP SETD2 KCNE2 RAD21 FGFR1 WDR45 ABCD1 CEP290 ATXN10 MFN2 CISD2 DHX16 HIRA PIBF1 NHLRC1 CPLANE1 SLC18A2 LRRK2 UCHL1 TBX1 SPTBN4 SLC12A6 MITF BDNF GJC2 FANCB TSPYL1 B9D1 MATR3 MKS1 SMO CREBBP CALM3 TCF4 GMPPA PRX ASCL1 PIGO GFM2 IRF5 VPS35 HK1 ACOX1 FANCF SLC1A3 SUFU CSPP1 SREBF1 TBC1D20 BRAT1 ARVCF BSCL2 GBE1 NOS1AP NFASC SPTLC1 REEP1 STARD7 PAX3 RREB1 VPS11 NAA10 ERCC6 SPG21 EP300 BRCA1 NMNAT1 SYNJ1 RAD51C MAPT PIGL FLVCR1 TRPV4 ARMC9 MTMR2 DHH HYLS1 TBC1D24 ADH1C PIGV LEP SCN11A HEXB LEPR GCK ARSA L1CAM FBXO38 GLA CACNA1C EIF4G1 TMEM216 SLX4 KCNQ1 SNTA1 CCDC28B MECP2 HPDL APC2 PODXL VPS13A PIGY GAS1 CEP104 KCNH2 ECE1 TBX5 DYNC1H1 PRPS1 NDRG1 LAMA2 COQ2 NALCN LIFR XRCC2 STAG2 MORC2 ERCC3 TPI1 DCAF8 MTRFR GABBR2 IGHMBP2 PLOD1 SBF2 TNFSF15 HSPB8 ATL3 HTRA2 SCN3A POLR3A SETX SIM1 KCNE1 B2M DNAJC13 FXN FANCC ELP1 DNM2 PIGW KIF1A AAAS UBE2T ATP1A3 RAD51 PARK7 NOTCH2NLC CAV3 FAM126A COMP PGAP3 FIG4 MAD2L2 RAI1 SEMA6B KIT NGLY1 SMC1A FMR1 SNCAIP TNPO3 TIMM8A EBP FANCE RMRP BCOR EPM2A SH2B1 MYH3 SLC6A2 NSD1 UQCRC1 RELN POLG MARCHF6 FANCI HSPB1 SEMA3D CTDP1 AKAP9 IL12RB1 KCNJ5 NRTN PRKN DEGS1 WNK1 COL5A1 SUCLA2 FANCL KITLG WFS1 KATNIP TRDN JPH1 SF3B4 ABHD12 HSD17B4 SBF1 TMEM67 RPGRIP1L SCN4B NR4A2 PEX6 MMEL1 ATL1 GATA1 UFD1 DNAJC6 ATXN2 ARX PTRH2 SCN10A LMNA ANK2 NEU1 CHCHD10 GP1BB MOGS CACNA1A ATRX RETREG1 TMEM231 POU2AF1 FANCG LGI1 SAMD12 TWNK NPHP1 SPIB BRIP1 FANCD2 CAV1 FANCM PALB2 CC2D2A HP_ABNORMALITY_OF_MASTICATORY_MUSCLE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_MASTICATORY_MUSCLE NECTIN1 RYR1 SRPX2 CHRNB1 AK9 LRP4 CHRNE SCN4A MSX1 CHRNA1 ATXN1 PI4KA RAPSN DMPK CHRND GIPC1 CACNA1S AGRN IRF6 COL13A1 DOK7 TP63 ADGRG1 MUSK HP_RECURRENT_EAR_INFECTIONS http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_RECURRENT_EAR_INFECTIONS IDS ODC1 DDOST SRP54 GFI1 UBE2A TCIRG1 KNSTRN PIK3CD IDUA ELANE SP110 ALG12 LEP SPTBN1 HP_EPIGASTRIC_PAIN http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EPIGASTRIC_PAIN HELLPAR MET CTNNB1 CFI ALMS1 CFH CD46 HP_CLEFT_LIP http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CLEFT_LIP NSD2 RPS28 DLL1 TCTN2 SMPD4 GPC4 TFAP2A RPS15A DLX4 ARHGAP31 SIX3 COLEC10 ADA2 NUP107 SUFU ALX3 PTCH1 EIF2S3 KIF7 RAI1 RPL18 VANGL2 DEAF1 INTS1 FGFR1 HYLS1 ZIC2 DDX59 ESCO2 CDH1 OFD1 KANSL1 CCDC32 STIL FLII HOXD13 IRF6 GLI2 SF3B4 RSPO2 RPL35 TDGF1 SLC2A10 FGF8 FOXF1 C2CD3 SMAD4 RPL35A PIGV SMOC1 YAP1 KAT5 DYNC2I1 DHODH GLI3 TP63 GATA1 TXNL4A TCOF1 FGD1 CYP26C1 DISP1 NELFA SPECC1L IFT80 WNT5A MID1 TSR2 NECTIN1 FLNB FREM2 BMP4 FOXC2 MEOX1 DYNC2I2 GAS1 MASP1 DDX3X SMO FOXH1 TMCO1 SEMA3E RPS27 GJA1 DYNC2H1 NUAK2 MEIS2 CHD7 KATNIP NODAL GRIP1 ACTB PIGN TBX2 STAG2 CTBP1 MKS1 TRAPPC9 FGF20 EPG5 RPS20 RPL5 SHH AMER1 NEK1 RET ZSWIM6 GPC3 MED12 CC2D2A DVL3 FKRP FGFRL1 INTU DSE SPOP TGDS RPGRIP1L RPS29 CPLX1 RPS10 RPS26 FOXA2 ASXL1 RPL26 TGIF1 MTHFR B3GLCT MYLPF CHST14 PROKR2 IL1RN MSX1 B3GALT6 SUMO1 CDON CPLANE1 GREB1L NSMF RPS24 PIGG EVC2 CHUK LMX1B RERE RPL27 POLR1D SMC1A GRHL3 COLEC11 DVL1 BCOR WNT4 WDR35 GDF11 EFNB1 LETM1 SLC29A3 IL1B NIPBL NSDHL NBN CTNND1 PROP1 SMCHD1 MSX2 HESX1 RPL15 RPS19 PORCN POLR1B RPS7 ALX4 POMT2 ITGA8 RIPK4 ANKRD17 EVC FAM20C IQSEC2 FRAS1 TRRAP PTCH2 LHX4 RPL11 PHF8 UBB KRAS SMG9 OTX2 RPL31 FKTN POMT1 IFT57 POU1F1 CEP120 VAX1 WNT3 TAPT1 JUP POLR1C PHGDH PAX3 NAA10 FZD2 TCTN3 RPS17 LARGE1 RIC1 CILK1 HP_SUBMUCOUS_CLEFT_OF_SOFT_AND_HARD_PALATE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_SUBMUCOUS_CLEFT_OF_SOFT_AND_HARD_PALATE PTDSS1 BICRA B3GALNT2 CDH11 RPS23 POMT2 KRAS PIEZO2 CARS1 CDC6 CUL3 PHGDH FKRP DHCR24 HYLS1 AMMECR1 LIG4 MAP2K1 GDF11 ZMPSTE24 AMER1 ORC4 BCOR ESS2 DGCR2 SIAH1 CDT1 WBP11 SMAD4 RNU4ATAC POMGNT1 PPP2R5D POMGNT2 SMCHD1 COL2A1 COL4A1 POMK SOX6 HYAL1 KAT5 BRAF DAG1 LARGE1 SON FKTN NSUN2 CRPPA ORC1 TBX1 FOXP2 ZEB2 LMNA POMT1 GMNN SIX3 TP63 PSAT1 DGCR6 TCTN3 ORC6 RXYLT1 STAG2 DGCR8 B4GAT1 MAP2K2 HS2ST1 KIF7 CDC45 KAT6B HP_ABNORMAL_T_CELL_ACTIVATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_T_CELL_ACTIVATION CASP8 CD40LG TGFB1 LEP CARMIL2 MAGT1 EPG5 LEPR HP_ABNORMAL_LIVER_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LIVER_MORPHOLOGY TNFRSF13B PPARG ATP7A RNU4ATAC A2ML1 SLC25A15 RAG1 NEUROG3 PIGA DIS3L2 ENG CCDC47 STX1A IFNGR1 GAA ERCC8 UQCRB BBS1 DPM1 RNASEH2A BMPER TJP2 KRAS HADHA KLF1 DDRGK1 FOS ABHD5 DCDC2 HNF1A FECH CBL MRPS28 LIPE STN1 STEAP3 MYRF AGPAT2 SPEN MRPL44 PEX3 CTSA TET2 TPP2 AGA MT-ND1 SEC63 PC IL2RG PEX12 SOS2 IFIH1 SAMHD1 COG8 SC5D TREX1 MT-ND4 DNAJB11 RHCE SLC6A14 LMNA JAM3 BCS1L SOS1 STAT3 ACVRL1 NHP2 DYNC2H1 HBB HMGCL MT-ND2 NGLY1 PHKG2 NRAS GLRX5 BBS9 ZAP70 ASL ACADS HFE PRKCZ NDUFAF3 C1S DOLK FBP1 MMAB PARN SUCLG1 MPL TMEM67 PEX5 SCAPER ZNF699 CEP290 MEG3 GPC3 ATPAF2 ARSB BRCA1 GLIS3 SLC7A7 COG4 BTK HYMAI B9D1 ACAD9 TGFB1 PCCA GUSB GBA AKT2 GPD1 PIK3C2A KCNN4 RFX5 CD79A PEX19 RRAS2 RFT1 RNASEH2C LIPA XPR1 MYBPC3 COG5 DNAJC19 GNS HLA-DRB1 ABCD3 PKD2 NDUFS8 GCDH EDNRA RRM2B CPOX CEACAM6 SLC2A1 HNF4A PPP1R21 SLC25A20 NOP10 SOCS1 COX5A MT-ND5 FLT1 NEU1 ALG2 IGLL1 HMGCS2 CD247 FAH WDR35 FUCA1 F5 IL1RN APC TRMT5 ANTXR1 SLC25A1 IL17RC IARS1 TCIRG1 TTC7A JAK2 MPC1 ITCH PCK1 TP53 PTPN22 B9D2 NEK1 JAG1 RRAS LIG4 LYST TINF2 LDLRAP1 MED13L MT-TK PSMB9 CA2 CCDC115 CD27 IDUA APOE RAG2 HADH ARL13B PLEKHM1 MKS1 OSTM1 DGUOK LPIN2 MIF PSMB8 CYP7A1 PTPN2 PMM2 CC2D2A NPHP3 IQCB1 TMEM216 FGFR2 BAP1 HSPG2 DLL4 RAC2 GALM DZIP1L PSAP SDCCAG8 CLCN7 SMPD1 TMEM165 NDUFS4 SMAD4 IL6 ETFB IRF5 CTLA4 KCNN3 CFAP418 PHKA2 EXTL3 NDUFS3 SPTA1 CPT2 NOTCH1 YARS2 SLC25A13 PEX10 MTTP UNC45A TRMU DLD CLDN1 FAM111B G6PC1 FAS RAB27A TRIM32 CEP19 G6PC3 PDPN LTBP3 RFXAP IL2RA ASXL1 TRAPPC11 ABCC8 GPC4 VPS45 NLRP3 MYD88 RIT1 LCAT PIK3CA SLCO2A1 SLC37A4 NAGS EARS2 PEX1 KIT PHKB RAF1 COA8 FADD ATP6AP1 SLC30A10 NDUFS7 BBS12 TCTN3 PIEZO1 PRF1 PDGFRB WDR19 GUCY2D SBDS PEX26 OCLN AKR1D1 PRKCSH KCNQ1OT1 PTPRC HEXB IDS NPHP1 RFXANK PEX14 NDUFS1 PTEN IFT43 KRT8 HBG1 IFT80 LRPPRC TNFSF11 SLC40A1 BBS5 CD19 BBS7 CD70 NCF2 SCO1 FLNC CBS PEPD PEX16 MADD IGF2R RBCK1 ATP8B1 CAV1 FARSB INPP5E ACP5 SLC34A2 IL2RB FARSA MARS1 VPS4A ACTG2 DCLRE1C TFAM ATRX NAGA SCYL1 POLG WT1 MT-TW TNFSF15 PIGS PYGL TNFRSF1A CFTR LUZP1 MVK ICOS B2M ATP7B XRCC4 GNE SLC25A19 DNAJC21 AP3B1 ALG1 FASLG TRIM37 PIGM NCF4 AIRE VCP IGF2 SLC4A1 TTC37 SF3B1 PSMB4 CTNNB1 NDUFV1 IL17F CTSC GALT ITK ALG9 IFT172 GBE1 HBA2 MAGT1 TKFC BOLA3 XK SCARB2 PEX13 IL7R RBM8A NDUFAF1 FGA LRP5 SP110 ALDOB COG7 TMEM237 PLIN1 TMEM107 KIF20A ZPR1 VPS33B ENPP1 SLC2A2 COX15 MMAA NCF1 RASGRP1 SLC35C1 SERPINA1 RIPK1 MET TNPO3 GCLC AP3D1 RHBDF2 RMRP PKD1 LPL MRPS7 CASP10 ACOX1 POLD1 FDX2 MT-TN BMP2 PSMB10 CORIN IL12RB1 TMEM199 WDPCP BTNL2 ABCB4 HMOX1 KCNJ11 KRT18 NCKAP1L OFD1 ERCC6 PNPLA2 APOC2 LACC1 SKIV2L HBG2 TNNI3 NDUFAF8 ALMS1 GNPTAB BICC1 PEX6 MT-ND3 RHAG VPS33A NDUFS6 MRAS STX11 LDLR ABCB11 IGHM SNX10 LZTR1 WRAP53 PCCB SGSH MT-ND6 STAT4 SLC9A3 TTC8 HJV ADA TCF3 POU2AF1 DOCK6 PCK2 TERC TUFM DHFR SAR1B ALG8 SLC22A5 MMUT ERCC4 SPIB RMND1 MCCC1 MPV17 GALK1 HNF1B ARL6 RTL1 TERT TNFRSF11A MMP23B PKHD1 MEFV CLPB UCP2 SLC20A2 CAVIN1 SPTBN1 EFL1 TCTN1 CTNS GALNS MAN2B1 RPGRIP1L EWSR1 HBA1 INSR ABCG5 AGL MFN2 SUMF1 ADK SOX10 PLAGL1 LBR MT-TE CPT1A NR1H4 MCM4 CIITA NPHP4 CYBB CLEC7A PDGFRL OTUD5 ABCA1 CDIN1 COG1 RERE TSC1 NPC1 SAA1 SLC26A9 ACADVL RINT1 DKC1 TSC2 TRAF3IP1 FCGR2A CYP7B1 PALLD DPM2 TNNT2 FOXRED1 HAVCR2 CASR ACADM CR2 GNMT CARS2 NPC2 FBN1 NDUFB9 PEX2 TYMP SRSF2 BBIP1 ADAR PRKCD NEK8 DCTN4 TXNDC15 MRPL3 JAM2 TALDO1 PSTPIP1 SLC39A4 XIAP LZTFL1 PTPN11 IL12A TMEM70 CDKN2A DHDDS BRCA2 EIF2AK3 LMNB2 NSMCE2 NDUFAF4 ERCC1 BSCL2 GSTM3 PDGFB NDUFAF2 NDUFV2 IRAK4 SLC29A3 TRAF3IP2 NOTCH2 RUNX1 FOXP3 ATP6V1B2 CDKN1C SHPK DPAGT1 UBE4B TBX19 NDUFAF5 SRP54 TSFM BAAT APOA1 RHD CYBA ETFDH HNRNPA1 MOGS ABCC6 NDUFS2 AUH UROD MICOS13 INVS AP1S1 ABCC2 TTC21B C2orf69 KCNQ1 MPI ELN CLCA4 NDUFA1 MYORG NFS1 SLC11A1 NUBPL HPGD CTSK USP18 TRPV6 GDF2 CTC1 ALG13 KCNH1 IL18BP AMACR BBS4 BBS2 COG2 ERBB3 PALB2 GDF1 SPTB RBPJ VIPAS39 TMEM231 EOGT COX14 C1QBP UNC13D INPPL1 APOB C4B ASS1 HGSNAT IFT27 GLB1 LYZ PCSK9 DYNC2I1 CASP8 EPB42 STXBP2 ATAD3A ARG1 DNASE1L3 CCDC28B GALE GPR35 NLRP1 SNX14 CSPP1 SDHD NAGLU TFR2 DYNC2I2 VPS13A POLG2 HADHB ETFA SYK TNFRSF13C GANAB PDGFRA RECQL4 IFT74 JAK3 NHLRC2 KRIT1 TCF4 ANK1 CYBC1 ANKRD55 AXIN1 TNFRSF1B RNASEH2B LRRC8A CHD7 GNAS TOGARAM1 ANKS6 CEACAM3 ADA2 IFNG CD3E TKT IFT122 COG6 CD28 IL17RA NDUFA6 SEMA4D NDUFB10 DDOST PIK3R1 NPM1 MKKS CD40LG SLC51B LYRM4 ADAMTSL2 AP1B1 ASAH1 BTD PEX11B SH2D1A KIF3B CALR SLC17A5 MT-ATP6 CD79B DAXX DYNC2LI1 RPGRIP1 RABL3 COX4I2 XYLT1 NDUFB11 KCNAB2 MYPN SFTPA2 CIDEC NDUFA11 JAK1 HSD3B7 FERMT3 STOX1 AGGF1 MLXIPL IFT140 PGM1 TARS2 CYP19A1 CD81 SDHA GATA2 CD55 IL21R KPTN STAT1 MUC5B HNRNPA2B1 GPIHBP1 SKI MTX2 ARHGAP31 HSD17B4 CEP164 BLNK POLR3A MT-TL1 MMEL1 HAMP RTEL1 CASZ1 HYOU1 PRDM16 MST1 PTRH2 TIMMDC1 USB1 YARS1 SURF1 ATP6AP2 LARS1 MT-TS1 CD96 RASA2 PNPLA6 SFTPC MT-TV MT-CYB ABCG8 TCTN2 GFM1 CD3D PSMG2 ACAT1 NDUFB3 GABRD TMEM126B DLK1 CP BBS10 HP_ABNORMAL_NEURAL_TUBE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_NEURAL_TUBE_MORPHOLOGY RORA DLL1 GTF2I NF1 SIX3 LFNG MAFB BMP2 MEOX1 SUFU CCNQ GTF2IRD1 PTCH1 RIPPLY2 FGFR1 RTL1 ZIC2 CDH1 SC5D RAB23 STIL ZIC1 GLI2 H19 CHRNG RAF1 TDGF1 FGF8 TMEM216 ACTB MESP2 POMGNT1 SLX4 DACT1 DISP1 ITGB4 DARS1 KANSL1 B3GALNT2 FLNB FREM2 HES7 PSAT1 GAS1 MASP1 FOXH1 METTL27 TBL2 RFWD3 RECQL4 ARID1B ERCC4 ATP6V1B2 TRIM36 FLNA NODAL MTR GRIP1 XRCC2 STAG2 INPP5E DLL3 NOTCH3 MAP3K7 GLI3 BRAF COLEC11 PORCN SHH AMER1 COLEC10 BMS1 ZSWIM6 MEG3 PIK3CA IRF6 VANGL2 IKBKG NCF1 FANCC KIAA0586 RFC2 TGIF1 VANGL1 PUF60 GMPPB DNAJC30 UBE2T B3GLCT POLA1 SETBP1 RAD51 TNXB SALL4 ALG3 CDON SNRPB BCL7B RBM8A PTPN11 PLEC CHN1 MAD2L2 NOTCH2NLC LARGE1 SEC24C IGF2 LMX1B COMT SMC1A JMJD1C BRCA2 CLIP2 GDF6 POMT1 FUZ FANCE RMRP ABHD11 MYH3 CEP290 ELN WBP11 KCNH1 RUNX2 CUL7 FANCI EIF4H CCBE1 LAT2 STX1A NSUN2 FANCA MTHFD1 DLL4 SIN3A FANCL BUD23 ALX4 POMT2 NEK9 HIRA OFD1 FKRP LIMK1 CLDN3 MTRR FRAS1 PTCH2 TBX1 TBC1D24 BAZ1B MTHFR FANCB PHGDH SLC25A19 CREBBP UFD1 LIG4 FIBP GDF3 FKTN MSX2 WNT7A CSPP1 FLI1 GTF2IRD2 TBX6 GP1BB FANCF BMPER FKBP6 ARVCF CLDN4 VPS37D FANCG MLXIPL CCL2 PAX3 RREB1 EP300 BRCA1 TMEM270 KIF22 BRIP1 FANCD2 HAAO KCNQ1OT1 DLK1 TBXT FANCM PALB2 RAD51C HP_DECREASED_CIRCULATING_GABA_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_CIRCULATING_GABA_CONCENTRATION MPO APP NOS3 PLAU HFE HP_INCREASED_LEVEL_OF_HIPPURIC_ACID_IN_URINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_LEVEL_OF_HIPPURIC_ACID_IN_URINE BCKDHA PCCB PAH DBT BCKDHB PCCA HMGCL HP_INCREASED_LEVEL_OF_L_FUCOSE_IN_URINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_INCREASED_LEVEL_OF_L_FUCOSE_IN_URINE TP53 APC STK11 IRF1 KRT8 ERBB2 MUTYH KRT18 KRAS SMAD4 CASP10 PIK3CA FGFR2 KLF6 HP_PHYSICAL_URTICARIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PHYSICAL_URTICARIA SPIB IRF5 POU2AF1 CARMIL2 MMEL1 PLCG2 IL12A SLC27A4 TNPO3 TNFSF15 SERPING1 IL12RB1 HP_HIPPOCAMPAL_ATROPHY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HIPPOCAMPAL_ATROPHY NEK1 GRM7 RNU4ATAC CPA6 BICRA CAMTA1 ABCA7 HP_HYPERKETONEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERKETONEMIA COX6B1 PHKA2 PHKG2 SLC37A4 GCDH HP_ABNORMAL_CIRCULATING_IGA_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_IGA_LEVEL PIK3CD TNFRSF13B CASP10 MTOR STING1 HLA-DQB1 IKBKG IL12A CD19 RASGRP1 KNSTRN TCN2 MMEL1 DNMT3B TNPO3 CTLA4 CD247 IL2RG CCND1 ATP6AP1 LRBA TNFRSF11A RAG2 TNFSF15 WAS PIGT IRF5 IVNS1ABP FAS ALG12 MOGS MVK ITCH OTULIN ICOS PRKCD CD3E DCLRE1C UNG CD40 PMM2 HLA-DQA1 FASLG IL12RB1 CR2 POU2AF1 NFKB2 IRF2BP2 BLM IL7R NLRP1 CARD11 RAG1 BACH2 CAVIN1 CD3D CSNK2A1 SYK TNFRSF13C CASP8 SPIB CD40LG ADA PSMB8 PGM3 JAK3 ATM PLCG2 RNF168 AICDA IL2RA HP_ABNORMAL_CIRCULATING_IGE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_IGE_LEVEL PRKCD PGM3 GPC4 CD40 FOXP3 STAT3 CD247 ADA STAT5B DOCK8 IL7R RASGRP1 KRT9 FASLG IL21 MS4A2 SPINK5 CDSN IL2RG BACH2 IL4R NSMCE3 TYK2 FAS CARD9 WAS IRAK4 GPC3 IL6ST CASP10 CD40LG TGFB1 NCKAP1L PLA2G7 COL7A1 IL2RA KRT1 ADAM17 EXTL3 IL6R HP_ABNORMAL_CIRCULATING_IGG_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_IGG_LEVEL TNFRSF13B CASP10 CD19 RASGRP1 IFNGR1 KNSTRN RAG2 TCN2 SH2D1A CTLA4 CNBP RAG1 CD247 PIK3CD IKBKG ERCC2 ATP6AP1 TNFRSF11A IVNS1ABP FAS IL2RG SPINK5 CXCR4 TPP2 PGM3 DCLRE1C UNG RNF168 IRF2BP2 SP110 ICOS IL7R NLRP1 BACH2 MGAT2 CD81 SYK TNFRSF13C NCKAP1L BLM PSMB8 JAK3 AICDA CR2 STING1 CTPS1 RAC2 VPS33A EPG5 IL21 SON CCND1 B2M LRBA MS4A1 ALG12 MOGS EXTL3 IL6R PRKCD CD3E CD40 PMM2 FASLG NFKB2 ITK CD3D CSNK2A1 CASP8 XIAP CD40LG ADA TGFB1 ATM TONSL SLC5A6 HP_ABNORMAL_CIRCULATING_IGM_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_IGM_LEVEL PIK3CD CASP10 IKBKG IL12A CD19 MYD88 TCF4 RASGRP1 IFNGR1 KNSTRN TCN2 MMEL1 SH2D1A VPS33A TNFRSF13C DNMT3B TNPO3 CTLA4 CNBP IL2RG ATP6AP1 KLHDC8B LRBA MST1 TNFRSF11A RAG2 TNFSF15 PIGT IRF5 WAS IVNS1ABP FAS ALG12 MOGS EXTL3 IL6R OTULIN PRKCD TPP2 PGM3 UNG CD40 FASLG CD247 LAMTOR2 IL12RB1 SEMA4D POU2AF1 NFKB2 IRF2BP2 ICOS BLM GPR35 CARD11 RAG1 BACH2 NSMCE3 RAC2 SYK CASP8 XIAP SPIB CD40LG ADA JAK3 PLCG2 RNF168 HP_CHRONIC_NEUTROPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_CHRONIC_NEUTROPENIA SBDS FIBP SRP54 LRBA EFL1 DNAJC21 CDC40 CXCR2 SLC37A4 PPIL1 HP_TRANSIENT_NEUTROPENIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_TRANSIENT_NEUTROPENIA SBDS FIBP CLPB SRP54 EFL1 DNAJC21 IRAK4 HP_BRAIN_IMAGING_ABNORMALITY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRAIN_IMAGING_ABNORMALITY HSD17B10 PSEN1 TBL1XR1 SIM1 PURA RAI1 NF1 MT-TS1 UBE3A MT-TL1 NGLY1 AP2M1 DNM1L PRNP EIF2AK3 MT-ND6 DYRK1A ABCD1 IARS1 MAPT SMARCB1 SIN3B C9orf72 RERE NSD1 GRM7 MTHFR CNP SH2B1 MT-CO2 HMBS SNRPN AKT1 TMEM106B SUCLG1 BAP1 SDHB MT-TS2 ALG1 CHD2 TBCK ADORA2A DPAGT1 PSEN2 SETD2 HPDL PIK3CA SCO2 NF2 APC2 SMARCE1 DEAF1 MT-ND1 SDHD COG8 CHMP2B MTRFR SLC2A1 GRN SQOR MT-ND5 SLC6A1 COQ2 MT-TH EP300 GAMT ATN1 SMO CREBBP VCP PDGFB WDR26 CACNA1G APOE TERT MT-CO3 ACP5 USP7 GALC SLC35A2 VPS33A SDHAF1 MT-CO1 SQSTM1 ERGIC1 COX16 MAGEL2 NDUFS2 SATB2 EHMT1 ASPA ALG12 CDC42 POLR3A NDUFAF3 MT-TF SLC6A8 TRAF7 SIN3A MT-TQ SYNGAP1 TREM2 ATP10A NDUFB8 PDP1 SURF1 SUFU FOXP1 MT-TW TREX1 GATM NEXMIF KARS1 PSAP ACAT1 CYP27A1 SCN1A MT-ND4 KMT2C BTD HP_PEDIATRIC_ONSET http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PEDIATRIC_ONSET PCDH19 NTRK1 SELENON PDE10A LACC1 GATAD2B CRB1 AGK VPS16 TGFB1 FECH RNASEH2A TNNI3 TJP2 MMADHC SLC6A5 METTL23 HEXA MUSK SVIL CCT5 ASH1L GRID2 TK2 MPZ SPTAN1 GFI1B NBEA ADAM22 SPG11 PRPS1 NFE2L2 GALNT3 AIMP2 LCA5 NKX6-2 MRPL44 MAST1 CD247 TET2 NEXMIF CHRNE GNB2 ZSWIM6 AKT1 SLURP1 CFI CYP1B1 RYR2 ASXL2 MYH7 MICAL1 CHRNA1 MYH9 BCS1L STAT3 DPAGT1 TNPO3 PINK1 SLC46A1 SCN9A VARS2 CCDC39 KCNMA1 NEFL PIGP LMX1B TMEM67 ATP6V0A4 ELANE NDUFA8 UVSSA VPS41 CUBN GPHN ALDH5A1 NAGA NDUFC2 MIEF2 ATPAF2 PHIP LCK MTOR SCN2A EXT2 CTNNB1 EEF1A2 SLC7A7 FMN2 KCNB1 WARS1 NDUFA10 GRIN2D CYP3A4 GPD1 GCH1 PMP22 NDUFV2 RFT1 KCNT2 GATA1 COL9A1 ABCD3 GDAP1 MTRR ILDR1 ADNP NEUROD2 YWHAG ARL3 RERE SGCB LGI1 ALG11 SOCS1 COX5A SLC19A1 HNF1A PLA2G6 COG2 MACF1 CASQ2 PGAP1 OCRL PLG SCNN1A LDHA JAK3 SIL1 ZNF711 WDR81 SACS CALM1 PRKAG2 CWF19L1 ZNF142 SLC2A1 PANK2 SPR NUP133 SUCLG1 NPHS2 PCK1 SLC33A1 SNAP29 KIDINS220 JAG1 TMEM94 SLC34A3 CSTB LYST AASS BCL10 ABCB7 CCDC115 SLCO2A1 MEFV SMPX NLRP3 F13A1 NEB CHD2 ATG7 EIF2AK4 FRMD7 GNAS PSMB8 HNRNPH2 SLC18A2 ERCC6 RPS26 COL6A1 TPP1 IGHM SYNE2 CLDN11 RIPK1 AIFM1 ACOX2 NLGN3 HIVEP2 PSAP TIMMDC1 PLEKHG5 ALS2 PNKD REST CLCN7 KDM5B TGM3 TXN2 UMOD PLCE1 GFPT1 SCN4A IL36RN NARS1 FGF13 TRAPPC2L ADCY5 PLEKHG2 XPC FCGR3A PET100 LIMS2 IGLL1 TSC1 GABRB3 EDEM3 NDUFV1 PGAP3 SUCLA2 CPA6 IQSEC2 DIAPH1 NMNAT1 NDUFS4 SAR1B ZMIZ1 HERC2 IREB2 RORC VPS45 CD19 FAR1 RAG2 SPTBN2 EARS2 HPCA CD3D CD3E PYGM ATP6AP1 RPS29 PRF1 TBC1D24 ADGRV1 HEXB F2 ADSL PPP2CA NUP214 APC2 GLA CXCR4 VAMP1 HADHA HNMT CPLX1 GNB1 KCNA2 LRPPRC NCDN CLCN1 FLVCR1 PERP CBLIF HPDL QDPR FKTN L2HGDH NFKBIA CHST6 CYP2R1 TMPRSS3 POMT2 MID2 CHRND LIPA RELN LAMA2 CD4 AUH PRX DEAF1 ATP8B1 CAV1 FZD4 FARSB CYB5A TRIOBP TRAPPC9 CUL3 IL21 PNP CD79B POLG P4HTM CARMIL2 WDR45B TPM2 KITLG MS4A1 PDP1 COL1A1 PIGS TSHR PAPPA2 CFTR COL6A3 SRD5A3 MVK LRP5 MECP2 KDM4B MCM6 MTHFR UPB1 AIRE AAAS NKX2-1 ABCA4 ITK CLIC5 ARV1 LMNA BCORL1 RPL3L BOLA3 SCN3A MFSD8 WAC ITGA7 HADHB NEMF FAM126A S1PR2 SCN1A NDUFS2 TMEM251 MMAA NGLY1 NCF1 SI GARS1 KMT2E KRT83 IKZF1 MRPS7 SLC6A6 GJC2 COX10 OPHN1 DCC CAD PTCHD1 WT1 FOXRED1 SYT1 LMBRD1 KLHL7 VARS1 CTDP1 NUP107 WDR26 DLAT VDR EIF2B1 CA12 KCNA1 UQCC2 NOTCH2NLC ACADSB EXOC2 IMPDH1 TCF3 DDOST ACO2 TCTN2 SDHA NBAS NCKAP1L TRPA1 COL1A2 PLCG2 EGR2 COQ6 JPH1 DPM3 PAX2 ALG14 SNRPN VPS33A STX11 KDELR2 TRDN ABCB11 UNC45B MLC1 CPT2 KCNQ2 ANGPT2 VWA1 TSC2 IL37 DYNC1H1 BRAT1 NGF RETREG1 PRKDC MTFMT SGCA CHRNA4 SMPD1 AP3B2 TUFM DLG4 MCOLN1 ADGRG1 ADAR TH TTI2 TACSTD2 KCNJ10 AMBN EIF2B3 SNX14 DAAM2 TBL1X NDUFB9 LMNB1 MPV17 NDUFS1 FCHO1 SLC12A5 KCNH1 TBC1D2B PLP1 LITAF DOK7 AMMECR1 YIPF5 ACSL4 MIPEP CHD1 KIRREL1 TNFRSF11A DDB1 GJB3 TNFAIP3 GEMIN4 SLC25A38 NCF2 GLRA1 RUBCN ATP6AP2 TBCE DHX30 RTN4IP1 GALNS DARS1 IMPG2 POMC ICOS ADK DDX3X ABCB4 DBR1 ISCU NR1H4 SGCE COPA TPM3 PIK3CD GAN MIA3 EMD CLPX PYROXD1 NPC1 PNPLA8 GLRB ACADVL RINT1 DOCK8 BRF1 EPO FCGR2A PSAT1 RNASET2 PEPD RYR1 SLC6A8 SLC25A26 CORO1A HUWE1 EDC3 DPM1 GPR101 RDX NFKB2 PDHA1 ERCC4 CEP104 MMP2 NARS2 PNPT1 POLA1 DCDC2 MRPL3 SETD1A DYNC1I2 ISCA1 PHKG2 SLC39A4 CASP10 GABRB1 SPECC1L PET117 YIF1B IKBKB SLC4A11 MAGT1 TLK2 ACTL6B PDE2A COX20 TMTC3 DOCK7 GPAA1 FGD4 PMPCA TMEM240 RANBP2 EIF2AK3 LAMA3 DNAAF4 LIPT1 CACNB4 UPF3B LMNB2 SLC35A1 TTN ZAP70 COL6A2 IDH3A SAMD9 TBCD TACO1 RUSC2 BAAT DAG1 GABRG2 TUBB6 FRMPD4 MFN2 MAGEL2 NUS1 RPSA ARFGEF2 CTNS SCNN1G PIGK TBX19 KRT86 TCIRG1 MICOS13 VPS37A FLNA C2orf69 SPEG SLC7A6OS PRNP YME1L1 MYO5A TREX1 HAX1 MRPS25 ZNF462 GAL IL6R MED13L ALG13 PNPLA6 POMK CUX2 SARS2 NDUFA13 BSCL2 COPB1 NDUFAF1 PRDX1 TRMT1 SH3BP2 GATM PSPH NR3C2 TMX2 DSC3 CTC1 FBN1 GAD1 WDR73 RPS28 CFH NOS1AP ITPR1 PARN ASAH1 RAG1 PCDH12 FANCB COL9A2 CD164 OTULIN PTS PTPRQ ACOX1 TPP2 NLRP12 HIBCH TRNT1 ARG1 POMT1 NLRP1 UBE2A SDHD NAGLU ATAD3A POLR3K SPART ALAS2 CDKL5 LMAN2L EMC10 EIF2B5 AFG3L2 SLC6A3 DMD ROR1 AQP5 NLGN4X DCX RPGRIP1L GLB1 GFAP FRG1 CYBB SLC25A12 ITPA MYMK SDHAF1 PIK3R1 VAMP2 SLC12A3 SBF2 PLEKHM1 TOGARAM1 ADA2 NDUFB8 EIF2B2 APTX PUS3 RCBTB1 KIF1A CASR TRPV4 NDUFAF8 SLC19A3 GRIK2 SCNN1B PCDH15 MRPS2 TBR1 GTPBP2 ADD3 SLC5A6 RPL35A C12orf57 HNRNPU ERCC8 NDRG1 HGD RASGRP2 PITRM1 PAK1 RAB27A HCFC1 MMACHC KIF3B COX6A2 DNM2 AP1S2 CC2D1A NLRC4 CLDN16 DHPS CNP TRAC COX4I2 COA8 CYBA CD59 PRMT7 MARCHF6 NDUFAF6 GUCY2D ATP2B3 SON KCTD7 PRKN GJB2 WNK1 FERMT3 TIMM8A TUBGCP2 CAVIN1 IFT140 AGO2 FXN UFSP2 IL21R STXBP2 HCN2 FOXP1 CFB ADAT3 MTX2 KRT81 HABP2 TRPM6 PHOX2B CHD3 CACNA2D2 ATP13A2 SASH1 SLC52A3 PIGT HSD17B10 EBF3 IL2RG DRC1 CARD11 GP6 TNFRSF4 COLQ MFF FLG ACP5 LARGE1 VPS53 EIF2B4 PROM1 HEPACAM SOST RPS19 CARD14 CEP78 TRIT1 ATP7A GRM1 BLNK GRIN1 COL12A1 DDHD1 SYNE1 HIKESHI HYDIN TIE1 AMTN PSMG2 SEPSECS DNAAF5 GEMIN5 DDC MTR EXT1 LRP12 HP_ABNORMAL_CIRCULATING_AMYLASE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_AMYLASE_LEVEL CNOT1 SBDS SRP54 NFS1 EFL1 DNAJC21 HP_HYPOAMYLASEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPOAMYLASEMIA CNOT1 SBDS SRP54 EFL1 DNAJC21 HP_NEGATIVISM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_NEGATIVISM HTR2A DAOA APOL2 MTHFR DRD3 RTN4R COMT CHI3L1 SYN2 APOL4 HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_PROTEIN_VACCINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_PROTEIN_VACCINE CTPS1 RIPK1 CD70 ALG12 CD81 CD247 HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_POLYSACCHARIDE_VACCINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_POLYSACCHARIDE_VACCINE ICOS TNFRSF13B CASP8 CD19 TNFRSF13C CARD11 CR2 HP_PARTIAL_ABSENCE_OF_SPECIFIC_ANTIBODY_RESPONSE_TO_UNCONJUGATED_PNEUMOCOCCUS_VACCINE http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_PARTIAL_ABSENCE_OF_SPECIFIC_ANTIBODY_RESPONSE_TO_UNCONJUGATED_PNEUMOCOCCUS_VACCINE ICOS TNFRSF13B CD19 TNFRSF13C CR2 HP_HYPERPLASIA_OF_THE_MAXILLA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERPLASIA_OF_THE_MAXILLA ZBTB11 AP2M1 WDR26 SOX5 HBB HP_ABNORMAL_CARDIAC_TEST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CARDIAC_TEST SCN5A JUP GDF1 KCNE1 MYL3 GPC4 KCNJ2 CLCNKB SCN1B GAA ALPK3 CACNA2D1 SCN3B POLG KCNJ5 SEMA3A NKX2-5 KCNJ18 CDKN2B DBH DMPK GNAS CDKN1B SVIL KCND3 GPD1L RYR1 NPPA TMEM43 KCNE3 COA6 ACADVL CACNA1C CALM1 CACNB2 PRKAG2 KCNQ1 ANK2 SCN10A FHOD3 TANGO2 MYH6 KCNJ8 KCNH2 AKAP9 CAV3 STX16 HCN4 TRPM4 SNTA1 DPAGT1 DNAJC19 HADH MED13L GATA6 KCNE2 DMD BPTF SCN2B RANGRF POLG2 TTN CAVIN1 TBX20 GTPBP3 DCAF17 TBX5 FXN TLL1 SCNN1A FBN1 CALM2 TRDN DYSF GABRA3 ALG10B SCN4B TECRL ATP1A2 GNB5 CALM3 CDC73 LAMA2 SLC12A3 PPCS PKP2 GPC3 TNNC1 B2M SLC1A3 CACNA1S CACNA1A TWNK CDKN2C GATA4 GMPPB GYG1 MEN1 SLMAP CDKN1A NOS1AP MYL2 BRF1 CITED2 SRY ATP1A3 RRM2B MT-CYB PHOX2B KCNA5 MECP2 ACTC1 SLC25A4 RPL3L PSMD12 NEU1 ABCC9 TNNI3K KCNE5 HP_ABNORMAL_CARDIAC_EXERCISE_STRESS_TEST http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CARDIAC_EXERCISE_STRESS_TEST SCN5A CACNA1C CALM1 KCNH2 AKAP9 SCN4B TBX5 KCNQ1 CALM2 CAV3 KCNJ5 SCN10A ANK2 SNTA1 NOS1AP TRDN KCNE2 CALM3 KCNE1 HP_ABNORMAL_CIRCULATING_DEHYDROEPIANDROSTERONE_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CIRCULATING_DEHYDROEPIANDROSTERONE_CONCENTRATION HSD3B2 CYP17A1 NNT TP53 MC2R MRAP STAR TXNRD2 HP_FOOD_ALLERGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_FOOD_ALLERGY IL6ST RBM8A PGM3 FOXP3 SPINK5 SLC27A4 JAK1 SPTBN1 SOX6 HP_ABNORMAL_BLOOD_CARBON_DIOXIDE_LEVEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_BLOOD_CARBON_DIOXIDE_LEVEL MAP3K20 TPM2 HACD1 RYR1 PHOX2B CACNA1S ACTA1 SELENON TPM3 LRP12 MYL2 ITGA7 HP_HYPERGASTRINEMIA http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_HYPERGASTRINEMIA MEN1 CDKN1A CDKN1B CDKN2C MCOLN1 CDKN2B HP_ABNORMAL_CSF_CARBOXYLIC_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CSF_CARBOXYLIC_ACID_CONCENTRATION DLAT GLUL PDHX PET117 GLYCTK PDHA1 LONP1 AASS ALDH5A1 NDUFA4 HP_ABNORMAL_CSF_PYRUVATE_FAMILY_AMINO_ACID_CONCENTRATION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_CSF_PYRUVATE_FAMILY_AMINO_ACID_CONCENTRATION DLAT PDHX PET117 PDHA1 LONP1 NDUFA4 HP_ABNORMAL_MANDIBULAR_RAMUS_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_MANDIBULAR_RAMUS_MORPHOLOGY PLCB4 GNAI3 EDN1 NFIX KCNJ2 HP_ABNORMALITY_OF_FRONTALIS_MUSCLE_BELLY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_FRONTALIS_MUSCLE_BELLY SLC18A3 SLC5A7 COL13A1 VAMP1 SNAP25 SLC25A1 SYT2 CHAT AGRN MYO9A HP_ABNORMALITY_OF_CARTILAGE_OF_EXTERNAL_EAR http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_CARTILAGE_OF_EXTERNAL_EAR PLCB4 MGP TWIST1 EDN1 ABCC6 ENPP1 GNAI3 TCTN3 ZBTB20 FGFR2 STEEP1 ZNF462 FGFR3 HS2ST1 HP_ABNORMALITY_OF_HEAD_BLOOD_VESSEL http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMALITY_OF_HEAD_BLOOD_VESSEL SEC24C GTF2I ENPP1 ASAH1 COMT GTF2IRD1 POLR3A NEU1 JMJD1C CLIP2 MT-ATP6 MYOC SELENOI ABHD11 HEXA LRP5 MT-ND5 BEST1 ANTXR1 APOB ELN TMEM231 CYP1B1 IGFBP7 HEXB GLB1 EIF4H LMX1B PCSK9 LAT2 STX1A MT-ND4L SMPD1 CTSA DARS1 ABCG5 MT-ND6 LDLRAP1 MT-CYB MLXIPL TULP1 BUD23 MT-ND4 METTL27 COL4A1 TBL2 HIRA LIMK1 CLDN3 DNAJC30 TBX1 NF1 BAZ1B NDP ABCC6 GALC UFD1 F12 LDLR NEK1 HOXA1 MT-CO3 GTF2IRD2 GP1BB MT-ND1 NCF1 RFC2 FKBP6 ARVCF CLDN4 PTDSS1 VPS37D FZD4 NDE1 ABCG8 RREB1 TMEM270 GM2A BCL7B PSAP MT-ND2 PRPF3 HP_ABNORMAL_ODONTOID_TISSUE_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_ODONTOID_TISSUE_MORPHOLOGY ATR TENT5A PLEC LRP6 GTF2I CNNM4 LAMB3 LONP1 B3GALT6 GPR68 SATB1 GTF2IRD1 ALDH3A2 ERCC8 TRIP11 DSPP DDX59 ADGRV1 RBBP8 OFD1 ATRIP GNAS ITGA6 RELT ELMO2 DNAJC21 SERPINH1 COL17A1 WNT10A OBSL1 MBTPS2 TCIRG1 ZNF469 EDARADD IFITM5 GLB1 PAX9 LMX1B USH2A TNFRSF11A FAM20C GALNT3 MSX1 TCOF1 GALNS ERCC6 STX16 TP63 NDUFB11 COL1A1 MYO7A OCRL FGFR3 CENPE IFT43 RNF113A METTL27 TBL2 CLDN19 GJA1 LTBP3 CLEC7A WDR72 AKT1 MIA3 ITGB4 ROGDI TRAIP SLC13A5 NUP133 CYP27B1 PCNT DLX3 USH1C MMP1 PORCN PTEN SLC10A7 PDZD7 ERCC3 RHOA FGFR2 ERCC2 LAMC2 PHEX SMARCA2 WDR19 GRHL2 IKBKG IFT122 NCF1 COG6 PEX6 RFC2 TRIM37 IL17RA ITGB6 AIRE APC FKBP10 DNAJC30 LAMA3 IL17F PPIB KCNJ2 NF1 BCL7B GTF2H5 LRP4 WHRN ENAM SEC24C CYP2R1 RECQL4 AMELX KDELR2 HLA-DQB1 LIFR ORAI1 POLR1D COMT PDE4D TGFA CLDN1 SMARCD2 HCCS JMJD1C CLIP2 FGFR1 ERCC1 PGAP1 MPLKIP ABHD11 SCUBE3 ESPN IRF6 CDH23 ERCC4 NECTIN4 ELN PCDH15 TRAF3IP2 FAM20A RUNX2 IL17RC KRT5 EIF4H TTC7A LAT2 STX1A VDR CCDC8 CEP152 IFT52 SLC35A2 POLR1B PEX1 SUMO1 TARS1 BUD23 HRAS SMOC2 PLK4 HIRA LIMK1 CLDN3 FGF10 TBX1 PIK3R1 BAZ1B PTDSS1 FGF3 KRT14 MMP20 COL1A2 AXIN2 CREBBP UFD1 GTF2E2 SLC24A4 PIK3C2A TSC1 FERMT1 KLK4 TMEM165 DHCR7 CENPJ GTF2IRD2 GP1BB ODAPH TBCE POLR1C CIB2 HLA-DQA1 FKBP6 ARVCF COL7A1 WNT10B SEC24D CLDN4 FLNB ANAPC1 VPS37D ACP4 MLXIPL FAM83H COX7B CUL7 NECTIN1 RREB1 AMTN P4HB EP300 TMEM270 AMBN EDA SLC29A3 USH1G WDR35 STIM1 HP_ABNORMAL_INTERNAL_CAROTID_ARTERY_MORPHOLOGY http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_INTERNAL_CAROTID_ARTERY_MORPHOLOGY HOXA1 ABCG5 NF1 NDE1 LDLR ABCG8 LDLRAP1 LMX1B APOB PCSK9 HP_BRONCHOCONSTRICTION http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_BRONCHOCONSTRICTION SCGB3A2 CCL11 TBX21 ADRB2 ALOX5 MUC7 IL13 TNF PLA2G7 HLA-G HNMT PTGER2 HP_EXANTHEM http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_EXANTHEM PRF1 SLC4A1 SPTA1 UNC13D EPB42 RUNX1 SRSF2 SPTB STXBP2 ANK1 BTNL2 STX11 TNFRSF1A TET2 CBL NLRP3 HLA-DRB1 MVK ASXL1 HP_ABNORMAL_LUNG_DEVELOPMENT http://www.gsea-msigdb.org/gsea/msigdb/cards/HP_ABNORMAL_LUNG_DEVELOPMENT WNT4 NSD2 CEP120 TENT5A DYNC2LI1 MKKS KIAA0586 B3GALT6 BUB3 SIX3 STRA6 BUB1B CFAP221 ODAD2 TRPV4 TRIP11 FGFR1 BMPER PEX1 RTL1 SLC25A24 WDR19 FANCB STIL HOXD13 IFT80 GLI2 ALG9 NUP88 CHRNG RSPO2 PKHD1 ESS2 MCTP2 FOXF1 ZIC2 DYNC2I1 GLI3 MYRF FAM20C DNAJB13 RARB NELFA TBX1 FLNB CCNO DRC1 COL2A1 FREM2 SLC26A2 LMOD3 DYNC2I2 PSAT1 ETFA WNT3 SMO ODAD1 GPC4 RSPH3 DGCR8 DYNC2H1 AARS2 AGT SPEF2 MUSK FLNA AKT1 GRIP1 CCDC39 PIGN CTBP1 MKS1 FGF20 SON PORCN PTEN SHH EMG1 RET DNAH11 MEG3 GPC3 CC2D2A KAT6B ZMPSTE24 RYR1 CHRND INTU NPHP3 LBR NEB WDR35 GAS8 AGTR1 RSPH1 MYOD1 GATA6 DISP1 ITGA8 CEP55 SETBP1 NME8 REN ZFPM2 ALG3 FGF8 CHUK INVS DNAH5 ODAD4 RPGR GREB1L NEK8 IFT140 DNAAF11 CFAP298 HYDIN PIGG KLHL41 SEC24C KDELR2 SPECC1L LIFR GDF1 BUB1 COMT DNAH1 NODAL DONSON SLC18A3 RSPH4A JMJD1C DNAAF2 EVC CSPP1 BCOR CDC45 DNAH9 CPLX1 DOK7 MCIDAS PIGT DGCR2 FLCN ASCC1 GLI1 DNAAF4 NSDHL TTC12 DNAAF1 MBTPS2 MYH11 TTC21B CFAP300 NEK1 RLIM TMEM94 DPAGT1 FUZ DHCR7 CCDC65 FOXJ1 FGFR3 MYH3 SPAG1 CHRM3 ZMYND10 ACTA1 DGCR6 DNAI1 NEK10 VANGL1 HIRA PIEZO2 DNAL1 HYLS1 FRAS1 COQ7 GAS2L2 ETFDH LGI4 NDUFB10 DNAI2 NKX2-6 WT1 IFT172 GLE1 DNAAF6 PHGDH ADGRG6 EVC2 GLDN UFD1 HSPG2 DZIP1L ATP5F1A GPKOW ODAD3 CEP57 RSPH9 DNAAF3 ETFB PUF60 RBM10 LTBP4 CCDC40 CCDC103 TAPT1 GP1BB RAPSN ACE CHRNA1 ARVCF PLXND1 LETM1 DNAAF5 LMNA TRIP13 KLHL40 OFD1 NEK9 RREB1 NAA10 TCTN3 TRIP4 DLK1 IFT81 LRRC56 PTH1R STK36